question
stringlengths 84
268
| answer
stringlengths 6
879
| reference_sequence
stringlengths 4.1k
4.1k
| mutated_sequence
stringlengths 4.1k
4.1k
| cleaned_pathogenicity
stringclasses 2
values | __index_level_0__
int64 67
343k
|
---|---|---|---|---|---|
A genetic alteration at chromosome 1, position 9244919, in gene H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
TTCTCTCCAGACGAGCGATTGCCGGTTGAGGAAAAAACGCTTGAAGGGCCAAGGACAGGGACTGGAAAGCAGGAGGAAAAAGCAGAATGGTCCTGTGGTCCGTGTGTGTATTTAGGGGTGAGGGCAGATACAGGGAGAGTGGGAGAGGAAGGCTGGGGAGCCACCCGTGTGGCCCTGATCCTCTAGTTAAAGCTCCAGTGATGGACGCGTCGTGTGTCCTGTAGACACTGGCTCAGACACTGTGGTTGGGTCCTCACCTTGGGTTGGTCCCTCACTAGGACCCTCTTGGAGATGGATCTTGAGAGAGATGAGGAAGAGGCAGAGGGGGTGGTGGGAGGAGGGGGTCTGACGTCAGGGTCAAGAGGCAGATTGGTGCCCTCTGTATAGGGATGGTGGAGAGGTCATTGGGCTGGTTCTGTGGGGACTTTTGTAAGTTATCTCTTTAAACCTCAACTTCTCCATTTGTATTACCAGATTATGGCTTCCTAAAGTTGTTAAAGATTTTGTTAATCCTTTACCTGGTAAATGCCTGACATATAATAGGCGCTAAATCAGCCATTCAGTTCCTTCGTCACTGCTCCCACCTGCAGGCTGAGCCCCATTTCCACCGTGGATTTCTGACTAGTTCCCATGGGCATGCCGGCCGTGATGACTTTCCCCCTCACTTCCTTCTTCCTTTCCCTCCAACACTGGCCTTGGTTGGAAGCTAGAGAGCCAGAGAGCTGTGGAGGAAGAATTCAGTGCAGGAAGCCCTACAACCTTGGTTAGAACAGAAGGGCAGAACAAACAAATACTTGGTGTGTTTGTGACCCACCTTAGGCCTCTACTTCTCATGCATGTGAGTGCCTCAGTTTAGGCTGAACACTAGCCCAGGTGGTTTGCTTACCTGGGAGAGGTTGTAGCCACTGGCCCAGACACTGTTGTTGGTCCTCACCTTGGGTTGGTCACTCACTAGGACCCTCTTGGACATGAATTTTGAGAGAGATGAGGAAGAGGCGGGGGCGGTGGGAGGGGGGGTCTGACGTCAGGGTCAAGAGGCAGATTTGGTCCCCTCTATAGCGGTGCTGGAGAGGTCATTGGGCATGTCATGCAGTGGCTGCACAGTCAGTCCCAGCTCCCCTGCTTTCTTACCCTGGGACCTTCATTGACCTGAGCCTCAGCTTTTCCATTTGCAGAATGGGAGGACTGTCACAGAACCCCATGTGGTTCTTTCAGGATTCTTGTCTGGATTCATTGAGCTCTAATACACATAAGTACTTAGTGCCAGCACTAATCATTTGCTGGTATCACTCTTCCAGGATGACACCTACCACTCGGTGCTTAATAGGTGATAGGTACAGGCCTCAGCTCATTATAAGCATGAACTCCTTTTATCCTTATAACAACTCTGTGCTGTAGGTACCGCTATTACCCCCATTTCAGGTGAGAAAACTGAGGTACAGCCAGGTTAAATAATTGTGCACTTACTAAGGGGTTGAGCTGGGATTCAAACTCAGGCAGTTAGTCTGGAGTCCATGTTTTCTGTCACTATGCTGTAGCAGTTATTAGTCATCACTTGGTAGTTGGAGCCCAGTGGACATGGAGAAGAGGCAAGTGAGAGGAGGTGGTCCTGCCCTCTCACTGTTCCAACTGTCGCCTGAGGACCTGCCACTATACCTAGGCTGGGGCTGCCCTGCTTGTCCGGGTGACCTGTGCTCCTAGAAGAGACTGGCCTTGGTCATAAAATGGACAGCTCCACTCCCAGGCCTGCGGCCCTCCCTGGTGGCCTTTGCCGCTTTCCTATGCTCCTGGCAGCAAAGTGGTTCATCTCTAGCAAGTGGTCTCTAACTTTCCCAGGCAGAGTCCCTGTCTACAGGGCAGGCTCCCTACCCACTGACTTCCTGGAACAGAAGCCAAGCTGTCAGGAGGGAGGGACAAGCTGTGGGCTTATAACATTTTCTTAAGAAACACGTGGTGGTTTCTTGCCAGGCAGGAAGTGTTTGTTTCCACATCGTAGCCACCTGAACCATGTCTGATCCTTCCTTGTTCCTCGTCTGTCTCTCTTTGCACCCCAGGCACCCAGGCATGTGGAATATGCTCATAGTGGCGATGTGCTTGGCCCTTCTGGGCTGCCTGCAAGCCCAGGAGCTCCAGGGACATGTCTCCATAATCCTGCTGGGAGCAACTGGGGACCTGGCTAAGAAGTACTTATGGCAGGGACTGTTCCAGCTGTACCTGGATGAAGCGGGGAGGGGTCACAGTTTTAGCTTCCATGGAGCTGCTCTGACAGCCCCCAAGCAGGGTCAAGAGCTCATGGCCAAGGCCCTGGAATCCCTCTCCTGCCCCAAGGACATGGCACCCAGTCACTGTGCAGAGCACAAGGATCAGTTCCTGCAGCTGAGCCAGTACCGCCAACTGAAGACGGCCGAGGACTATCAGGCCCTGAACAAGGACATCGAGGCACAGCTCCAGCACGCAGGCCTCCGGGAGGCTGGCAGGATCTTCTACTTCTCAGTGCCACCCTTCGCCTATGAAGACATTGCCCGCAACATCAACAGTAGCTGCCGGCCAGGCCCGGGCGCCTGGCTGCGGGTTGTCCTTGAGAAACCCTTTGGCCATGACCACTTCTCAGCCCAGCAGCTGGCCACAGAACTCGGGACCTTTTTCCAGGAGGAGGAGATGTACCGGGTGGACCATTACTTAGGCAAGCAGGTGAGCATCAGCATGGAGCCTGCCAGGGCTAGGGTGAGCTGGGCGCTGGTAGACCCCAGCAACAAAGCCGCTCGCTCATTGTGGAGCTAGGCCCCAAGGCATTGTGAACTCAGAGCTCCCATGGTCTCCTTGAAGGTGGGCAGGAGGCGAGCGGGTAAAGGAAAGACAGCAGCAGGGCAGGACTGTTGGGTCCTTGTCCATGTGTCTGGCCTCTTTTGTCCTTTGCAAAGCCCCCGTTCTCGTTGTTTCCCAGTCTGGGCTCTGGCTTCTCACGGTTGCCCTGCATCCCCTGTAGCGGTGGCTCAGCAACTCTGGTGTCTGGATCTGGCTTCCTGTTGGGTGTGCTGTGGGAATCAGAATGAGCTCTCTTCTCCTGCACCCATCCACCTTTTTTTTTTTTTTAGACAGAGTCTGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTCGGAGTACAGGCGCGCATCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAAATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAAATCCTGACTTCAAGTGATCCGCTCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCTGCCCCATCTACCTTTTTTCAAAATGTTTTTCTTCCTGAGTTCTGTTTTGAGCCAGAAGGTTGGCAACAAGAGCTTAAACCAGGGAGCAGTAGGACCTTAAGTCCTGGGCAGGAGCATGGGTTAACCTCCTGGGTGACACATGTCCGTTGACCAGTTCACTCAAAATGCCTTGGAGGCCCTTGGGGGCATCCTGCCCCAGGAACCCTGGCAGAGAGTGCAGCAGCCCTGTGTTCTGGTACGTGGTGCGGGTGGGCATAGGCAGTTGTTGAGGACAGAGACATGGCCTTCCATCCCACCCTGCCTGGAGTTGCCCATAGTAGGATTCCTAAATAGGGGTCCTCAGAACTGGGCCAGTCCTGGGGAGGTTTTCACTTGTTTATGGCAAGATGAGAAGAAATACAGAATGTGCTCAATTCAGAGCTTTTCTTTGCTACATTTTTGGTGTTAAACCTATCTTTATTTTATTAAAAATTGATTGTAATAGAAGATAGGTAATTCTAACTTTTTTTCTTGGCAAAATACAAATCTGGTAACCCTTTGGAGGTCACTTGCAAGTTTTTGGAACCTTTACTGGCCTGTGAGATCGTGAAGTCCAGAACTACTGCTCAGAGGGCATCTTCTGCTCTGAGCAGGGAATAGAAAGGTCAGAGCCCTTCCCGGGAGTCAGGGTTCCTCCTTCATCGTGAGAGTATCCTGCAGCACGCCCAGTCTTCCCCCCCCGACAGG
|
TTCTCTCCAGACGAGCGATTGCCGGTTGAGGAAAAAACGCTTGAAGGGCCAAGGACAGGGACTGGAAAGCAGGAGGAAAAAGCAGAATGGTCCTGTGGTCCGTGTGTGTATTTAGGGGTGAGGGCAGATACAGGGAGAGTGGGAGAGGAAGGCTGGGGAGCCACCCGTGTGGCCCTGATCCTCTAGTTAAAGCTCCAGTGATGGACGCGTCGTGTGTCCTGTAGACACTGGCTCAGACACTGTGGTTGGGTCCTCACCTTGGGTTGGTCCCTCACTAGGACCCTCTTGGAGATGGATCTTGAGAGAGATGAGGAAGAGGCAGAGGGGGTGGTGGGAGGAGGGGGTCTGACGTCAGGGTCAAGAGGCAGATTGGTGCCCTCTGTATAGGGATGGTGGAGAGGTCATTGGGCTGGTTCTGTGGGGACTTTTGTAAGTTATCTCTTTAAACCTCAACTTCTCCATTTGTATTACCAGATTATGGCTTCCTAAAGTTGTTAAAGATTTTGTTAATCCTTTACCTGGTAAATGCCTGACATATAATAGGCGCTAAATCAGCCATTCAGTTCCTTCGTCACTGCTCCCACCTGCAGGCTGAGCCCCATTTCCACCGTGGATTTCTGACTAGTTCCCATGGGCATGCCGGCCGTGATGACTTTCCCCCTCACTTCCTTCTTCCTTTCCCTCCAACACTGGCCTTGGTTGGAAGCTAGAGAGCCAGAGAGCTGTGGAGGAAGAATTCAGTGCAGGAAGCCCTACAACCTTGGTTAGAACAGAAGGGCAGAACAAACAAATACTTGGTGTGTTTGTGACCCACCTTAGGCCTCTACTTCTCATGCATGTGAGTGCCTCAGTTTAGGCTGAACACTAGCCCAGGTGGTTTGCTTACCTGGGAGAGGTTGTAGCCACTGGCCCAGACACTGTTGTTGGTCCTCACCTTGGGTTGGTCACTCACTAGGACCCTCTTGGACATGAATTTTGAGAGAGATGAGGAAGAGGCGGGGGCGGTGGGAGGGGGGGTCTGACGTCAGGGTCAAGAGGCAGATTTGGTCCCCTCTATAGCGGTGCTGGAGAGGTCATTGGGCATGTCATGCAGTGGCTGCACAGTCAGTCCCAGCTCCCCTGCTTTCTTACCCTGGGACCTTCATTGACCTGAGCCTCAGCTTTTCCATTTGCAGAATGGGAGGACTGTCACAGAACCCCATGTGGTTCTTTCAGGATTCTTGTCTGGATTCATTGAGCTCTAATACACATAAGTACTTAGTGCCAGCACTAATCATTTGCTGGTATCACTCTTCCAGGATGACACCTACCACTCGGTGCTTAATAGGTGATAGGTACAGGCCTCAGCTCATTATAAGCATGAACTCCTTTTATCCTTATAACAACTCTGTGCTGTAGGTACCGCTATTACCCCCATTTCAGGTGAGAAAACTGAGGTACAGCCAGGTTAAATAATTGTGCACTTACTAAGGGGTTGAGCTGGGATTCAAACTCAGGCAGTTAGTCTGGAGTCCATGTTTTCTGTCACTATGCTGTAGCAGTTATTAGTCATCACTTGGTAGTTGGAGCCCAGTGGACATGGAGAAGAGGCAAGTGAGAGGAGGTGGTCCTGCCCTCTCACTGTTCCAACTGTCGCCTGAGGACCTGCCACTATACCTAGGCTGGGGCTGCCCTGCTTGTCCGGGTGACCTGTGCTCCTAGAAGAGACTGGCCTTGGTCATAAAATGGACAGCTCCACTCCCAGGCCTGCGGCCCTCCCTGGTGGCCTTTGCCGCTTTCCTATGCTCCTGGCAGCAAAGTGGTTCATCTCTAGCAAGTGGTCTCTAACTTTCCCAGGCAGAGTCCCTGTCTACAGGGCAGGCTCCCTACCCACTGACTTCCTGGAACAGAAGCCAAGCTGTCAGGAGGGAGGGACAAGCTGTGGGCTTATAACATTTTCTTAAGAAACACGTGGTGGTTTCTTGCCAGGCAGGAAGTGTTTGTTTCCACATCGTAGCCACCTGAACCATGTCTGATCCTTCCTTGTTCCTCGTCTGTCTCTCTTTGCACCCCAGGCATGTGGAATATGCTCATAGTGGCGATGTGCTTGGCCCTTCTGGGCTGCCTGCAAGCCCAGGAGCTCCAGGGACATGTCTCCATAATCCTGCTGGGAGCAACTGGGGACCTGGCTAAGAAGTACTTATGGCAGGGACTGTTCCAGCTGTACCTGGATGAAGCGGGGAGGGGTCACAGTTTTAGCTTCCATGGAGCTGCTCTGACAGCCCCCAAGCAGGGTCAAGAGCTCATGGCCAAGGCCCTGGAATCCCTCTCCTGCCCCAAGGACATGGCACCCAGTCACTGTGCAGAGCACAAGGATCAGTTCCTGCAGCTGAGCCAGTACCGCCAACTGAAGACGGCCGAGGACTATCAGGCCCTGAACAAGGACATCGAGGCACAGCTCCAGCACGCAGGCCTCCGGGAGGCTGGCAGGATCTTCTACTTCTCAGTGCCACCCTTCGCCTATGAAGACATTGCCCGCAACATCAACAGTAGCTGCCGGCCAGGCCCGGGCGCCTGGCTGCGGGTTGTCCTTGAGAAACCCTTTGGCCATGACCACTTCTCAGCCCAGCAGCTGGCCACAGAACTCGGGACCTTTTTCCAGGAGGAGGAGATGTACCGGGTGGACCATTACTTAGGCAAGCAGGTGAGCATCAGCATGGAGCCTGCCAGGGCTAGGGTGAGCTGGGCGCTGGTAGACCCCAGCAACAAAGCCGCTCGCTCATTGTGGAGCTAGGCCCCAAGGCATTGTGAACTCAGAGCTCCCATGGTCTCCTTGAAGGTGGGCAGGAGGCGAGCGGGTAAAGGAAAGACAGCAGCAGGGCAGGACTGTTGGGTCCTTGTCCATGTGTCTGGCCTCTTTTGTCCTTTGCAAAGCCCCCGTTCTCGTTGTTTCCCAGTCTGGGCTCTGGCTTCTCACGGTTGCCCTGCATCCCCTGTAGCGGTGGCTCAGCAACTCTGGTGTCTGGATCTGGCTTCCTGTTGGGTGTGCTGTGGGAATCAGAATGAGCTCTCTTCTCCTGCACCCATCCACCTTTTTTTTTTTTTTAGACAGAGTCTGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTCGGAGTACAGGCGCGCATCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAAATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAAATCCTGACTTCAAGTGATCCGCTCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCTGCCCCATCTACCTTTTTTCAAAATGTTTTTCTTCCTGAGTTCTGTTTTGAGCCAGAAGGTTGGCAACAAGAGCTTAAACCAGGGAGCAGTAGGACCTTAAGTCCTGGGCAGGAGCATGGGTTAACCTCCTGGGTGACACATGTCCGTTGACCAGTTCACTCAAAATGCCTTGGAGGCCCTTGGGGGCATCCTGCCCCAGGAACCCTGGCAGAGAGTGCAGCAGCCCTGTGTTCTGGTACGTGGTGCGGGTGGGCATAGGCAGTTGTTGAGGACAGAGACATGGCCTTCCATCCCACCCTGCCTGGAGTTGCCCATAGTAGGATTCCTAAATAGGGGTCCTCAGAACTGGGCCAGTCCTGGGGAGGTTTTCACTTGTTTATGGCAAGATGAGAAGAAATACAGAATGTGCTCAATTCAGAGCTTTTCTTTGCTACATTTTTGGTGTTAAACCTATCTTTATTTTATTAAAAATTGATTGTAATAGAAGATAGGTAATTCTAACTTTTTTTCTTGGCAAAATACAAATCTGGTAACCCTTTGGAGGTCACTTGCAAGTTTTTGGAACCTTTACTGGCCTGTGAGATCGTGAAGTCCAGAACTACTGCTCAGAGGGCATCTTCTGCTCTGAGCAGGGAATAGAAAGGTCAGAGCCCTTCCCGGGAGTCAGGGTTCCTCCTTCATCGTGAGAGTATCCTGCAGCACGCCCAGTCTTCCCCCCCCGACAGGNNNNNNNN
|
benign
| 1,859 |
Is the genetic mutation found on chromosome 1 at position 9981092, within the gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Leber_congenital_amaurosis_9']
|
ATTAGTCAGTGTCCTCTGTCAATGGGGTAATAAACAATTCTGATATGAGAGATGAGCAGCACATTAAAACCAGAAGTATTTTCAGTGAAACTAGCTGCAAGGTGGCAGTAATATAGTCGCTTTGTAATAACCAAAATGTTCAGGCTGATCATGGTGGCTCACATCTATAGTCCCAGCACTTTGGGAGTCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGTGTGGGCAACATAGTGAGACCTCATCTCTCCAAAAAACTAAAGTTAGCTGAACATGGTGGCACGTGCCTGTAGTCGCAGCTATCTGGGAGGCTGAGGCGGTAGGATCACTTGAGCCCAGGAGTTTTGGTTGCAGCGAGCTATGATTGTGCCACTGTGCTCCATCCTGGGCAATAGAGTGAGCCTGTGTCTCTGAAAAACAAACCAAAAAAACCCCAAAACATTCACTCAATCAAATTGTTATTGAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATGGCGTGAACCTAGGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAATTGTTATTGAATGCCTCCTCATAGACTCTGCTAGGAGCTGGAGTAGCAACTGTAAGCCTCCTTTCTCCTTCCCTTACGGAGATAATAATATTTATGATATAGGATGTTGAGAAGATTTTTTTTTTCTTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGCGCAATCATGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCATGTGCCACCACACCCGGCTAATTTTCTATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGTCGAGAAGATTTTTAATTTTTTTTAGTCTTCCACAACAGTCATCTTATGTTGAGAAGACTTAATCAGATAATCCATGTAAAGGATTCAGTGTAATGTGTGGCATATGATAAATAATGTTGGCCAGGCACCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCGCTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCTATAAATAATGTTAATGATATATTCTAATGGAGCATGTGAGAAAGAGAAATATTCTATTGTTTTGTTGTTTTATAGACACCATCAAGAGAAATTGGAGGCTAGTGACTGTGATCACCAGCAGAACTCACCTACTCTAGAAAGGCCTGGAAGGAAGAGGAAGTGGACTGAAACACAAGATTCTAGTCAAAAGAAATCCCTAGAGCCAAAAACAAAAGGTTTGTATGTTTTAGCAGGACCCACGGACTAGAGTTGATAAGATTCTGTAGCTGAGCAAACCCCTGTGTATTTTTTTTTTTTTAGATGGAGTCTCGCTCTATCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCCTGCCACCACGCCTGTCTAATTTGTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCTGGGCCTTATTTTTTTTGTTTTATAGAGATGGGGTCTCACTATTTTGGCCAGGTTGGTCTTGAACTCCTGGCCCCAAGCAGTCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGTGTCAGCCACTATGCCTGGCCTTTATTTTCATTTTATATTGCATACTTGTGGGTGTCTGGAAAATGCCCCTTGTTAGTTGCATGAAGTGAAGGAGAATAAAAGGCACTTGGAGCTTATTTCTCCTGCAGTGGTCTCTAATCTTTGAGGTGTCCTGGGTCTCTTTTGGGAATCTGATTCTCATAAAATAAAAGCTCATAAAAACTGTGAACTGTCATTCTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCGATGGCACAATCTCGGCTTACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTATCTGGGGTTACAGGCGTGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAAACGGTATTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTACCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCTAGAGCCACCGCACTCGGCCTAAGCCCTCATCCTTGAAAAGCACATACGTATCTTCATTTTGATACAGTGGGTTATTAGAAAAGTAAACCCCTTTCCACTTGGAGGAGGTAGAGGGGAAGAAAAAGCATACCCCAAAGCTCTGTTTTATTCTTCCCAGCTGTGCCAAAGGTCAAGCTGCTGTGTGGGGCAGATTTATTGGAGTCCTTTGCTGTTCCCAATTTGTGGAAGAGTGAAGACATCACCCAAATCGTGGCCAACTATGGGCTCATATGTGTTACTCGGGCTGGAAATGATGCTCAGAAGTTTATCTATGAATCGGATGTGCTGTGGAAACACCGGAGCAACATTCACGTGGTGAATGAATGGATCGCTAATGACATCTCATCCACAAAAATCCGGAGAGCCCTCAGAAGGGGCCAGAGCATTCGCTACTTGGTACCAGATCTTGTCCAAGAATACATTGAAAAGCATAATTTGTACAGCTCTGAGAGTGAAGACAGGAATGCTGGGGTCATCCTGGCCCCTTTGCAGAGAAACACTGCAGAAGCTAAGACATAGGAATTCTACAGCATGATATTTCAGACTTCCCATTTGGGGATCTGAAACAATCTGGGAGTTAATAACTGGGGAAAGAAGTTGTGATCTGTTGCCTAAACTAAAGCTTAAAAGTTTAGTAAAAATCGTCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGGGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGACCCCAGGTGGTGGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATTTAGTAAAAATCAATGGTA
|
ATTAGTCAGTGTCCTCTGTCAATGGGGTAATAAACAATTCTGATATGAGAGATGAGCAGCACATTAAAACCAGAAGTATTTTCAGTGAAACTAGCTGCAAGGTGGCAGTAATATAGTCGCTTTGTAATAACCAAAATGTTCAGGCTGATCATGGTGGCTCACATCTATAGTCCCAGCACTTTGGGAGTCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGTGTGGGCAACATAGTGAGACCTCATCTCTCCAAAAAACTAAAGTTAGCTGAACATGGTGGCACGTGCCTGTAGTCGCAGCTATCTGGGAGGCTGAGGCGGTAGGATCACTTGAGCCCAGGAGTTTTGGTTGCAGCGAGCTATGATTGTGCCACTGTGCTCCATCCTGGGCAATAGAGTGAGCCTGTGTCTCTGAAAAACAAACCAAAAAAACCCCAAAACATTCACTCAATCAAATTGTTATTGAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATGGCGTGAACCTAGGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAATTGTTATTGAATGCCTCCTCATAGACTCTGCTAGGAGCTGGAGTAGCAACTGTAAGCCTCCTTTCTCCTTCCCTTACGGAGATAATAATATTTATGATATAGGATGTTGAGAAGATTTTTTTTTTCTTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGCGCAATCATGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCATGTGCCACCACACCCGGCTAATTTTCTATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGTCGAGAAGATTTTTAATTTTTTTTAGTCTTCCACAACAGTCATCTTATGTTGAGAAGACTTAATCAGATAATCCATGTAAAGGATTCAGTGTAATGTGTGGCATATGATAAATAATGTTGGCCAGGCACCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCGCTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCTATAAATAATGTTAATGATATATTCTAATGGAGCATGTGAGAAAGAGAAATATTCTATTGTTTTGTTGTTTTATAGACACCATCAAGAGAAATTGGAGGCTAGTGACTGTGATCACCAGCAGAACTCACCTACTCTAGAAGGCCTGGAAGGAAGAGGAAGTGGACTGAAACACAAGATTCTAGTCAAAAGAAATCCCTAGAGCCAAAAACAAAAGGTTTGTATGTTTTAGCAGGACCCACGGACTAGAGTTGATAAGATTCTGTAGCTGAGCAAACCCCTGTGTATTTTTTTTTTTTTAGATGGAGTCTCGCTCTATCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCCTGCCACCACGCCTGTCTAATTTGTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCTGGGCCTTATTTTTTTTGTTTTATAGAGATGGGGTCTCACTATTTTGGCCAGGTTGGTCTTGAACTCCTGGCCCCAAGCAGTCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGTGTCAGCCACTATGCCTGGCCTTTATTTTCATTTTATATTGCATACTTGTGGGTGTCTGGAAAATGCCCCTTGTTAGTTGCATGAAGTGAAGGAGAATAAAAGGCACTTGGAGCTTATTTCTCCTGCAGTGGTCTCTAATCTTTGAGGTGTCCTGGGTCTCTTTTGGGAATCTGATTCTCATAAAATAAAAGCTCATAAAAACTGTGAACTGTCATTCTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCGATGGCACAATCTCGGCTTACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTATCTGGGGTTACAGGCGTGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAAACGGTATTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTACCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCTAGAGCCACCGCACTCGGCCTAAGCCCTCATCCTTGAAAAGCACATACGTATCTTCATTTTGATACAGTGGGTTATTAGAAAAGTAAACCCCTTTCCACTTGGAGGAGGTAGAGGGGAAGAAAAAGCATACCCCAAAGCTCTGTTTTATTCTTCCCAGCTGTGCCAAAGGTCAAGCTGCTGTGTGGGGCAGATTTATTGGAGTCCTTTGCTGTTCCCAATTTGTGGAAGAGTGAAGACATCACCCAAATCGTGGCCAACTATGGGCTCATATGTGTTACTCGGGCTGGAAATGATGCTCAGAAGTTTATCTATGAATCGGATGTGCTGTGGAAACACCGGAGCAACATTCACGTGGTGAATGAATGGATCGCTAATGACATCTCATCCACAAAAATCCGGAGAGCCCTCAGAAGGGGCCAGAGCATTCGCTACTTGGTACCAGATCTTGTCCAAGAATACATTGAAAAGCATAATTTGTACAGCTCTGAGAGTGAAGACAGGAATGCTGGGGTCATCCTGGCCCCTTTGCAGAGAAACACTGCAGAAGCTAAGACATAGGAATTCTACAGCATGATATTTCAGACTTCCCATTTGGGGATCTGAAACAATCTGGGAGTTAATAACTGGGGAAAGAAGTTGTGATCTGTTGCCTAAACTAAAGCTTAAAAGTTTAGTAAAAATCGTCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGGGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGACCCCAGGTGGTGGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATTTAGTAAAAATCAATGGTAN
|
pathogenic
| 1,979 |
Variant on chromosome 1, at position 10258485, affecting KIF1B (kinesin family member 1B): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
TAGCATGAGTTCATTCTTTGATACAGTGATATAGTATTTTCATTCATAAAGTATTTGGGTTGATGGAAAGTTTATGTACACATATACATAAATATATACACATATATACATACAGAACATATTTAGTTTACACCAAATTTATACTGAATGTACACTAAATTTATACTGATTTAGACATTTCTTGAGGATTTATTTATCAGTATCTTAGGATCCTCATTACCAACATTATTGCCCATTGATCTTAGGAAATGCCAAATAATAATAATAATTATTATTATTATTATTTTTCTTCTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCGAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGGCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTGACCATGTTGGCCAGGCTGGTCTCGAGCTTCTGACCTTAAGTGATCCACCTGTGTTTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTGGAAATGCCAAATTAAAATTGCTTAGGGTACTGTTAATTTTAAGTTGAATTTTGAGGGAATGGCCAGCAAGATTGGAATGACCACAGAGAAATTGTTTTTTTTTTGTTTGTTTGTTTGTTTTTGGCTAGGCTGATCTTGAACTCCTGACCTCCTGATCCACCTGCCTCGACCTCTCAAAGTGTTGGGATTAAAGGAGTGAGCCACCGTGCCTGGCCAATTTTTTTTTTTTAATTGTAGTAGAGCAATGTGGGTTCTGAACATTTTGAAAGATGATACCGTGCCTCTACTAAAAATTCCAAAAAAAAAAAAAAATTAGGTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGTGAACTGCTTGAACCCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGAACATGACTGTGTCTCAAAAAAAAAAAAAGGAAAGAGGCTGCAGATCCACAAGGGAAACAAAAGATTACCAGTATTACGAAAATGCAGAGTAGGGCCCTTCCTGGTACCCTTACTCAGTGTGGAACCCCAAATGTTGCTGCTTCTTAGGGATTGTTCATAGAGTTTACTTCTGCATCATTCATCTCTTTGTTACATGTTTTTGGTTTTGTTTTTCCTGTTTTGTATTTTTTTTTAAAGACTGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTACACCTCCTGGGTTCAAGCAGTTCTCCTGCTTCAGCCTCCTGAGTATCTGAGATTACAGGCAGGTGCCACCACACCCGGCTGATTTTTTTAATTTTTAGTAGAGATGGGGTTTCGCTGTGTTGGCCAGGCTGGTCTCGAATTCCTATCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAGAGTGATGGGATTATAGGCATGAGCCACTGTGCCCTGCCCTGGGGAATCGATGTTTTAAACTATTGACAAAGCCTAATTGTCAAGGGAAGGGACTGAGAAGGGGATTGGAAATGCTGTTTCCTGAAAGCTGTGTTTATTGAGAAATAGTCCCAGTAGCTGGAGTGAGTTCAAAGAAGTATTTTTATATGTGGACTTGACCTTTGGTCTTTTATTCTCATTTTCCACTTAAGAAAATCTTGGCTGTGTGAATGAAAGAGTGATACTTTTAAGGTTATAGAAAGTGAAATGTAATCATGCCAGATAATTTTATATAGATATTTTTATGTATGGCTGACCTGGATGACTCTAACAGTGCATGTGTTTGTGAGTGTGTGTGTGTGCATGTGCGTGTATTTAATGAGAAAAGTAAACTTGTGTATAGGAGGCTTAAAAAATGTGTAGGGAATTTTAGGTGACTGTTCTGATTCCAGACACTTTTATTATGGAAGCAATCAAGTAAGTATAGGAAGAAATATTAATAAAAGGTTATTTATTTCTCCTTTTACTCTTTACAGCCCGAAGATCCCTGTTTTGCATCTCAAAACCGTGTGTACAATGACATTGGCAAGGAAATGCTCTTACACGCCTTTGAGGGATATAATGTCTGTATTTTTGCCTATGGGCAGACTGGTGCTGGAAAATCTTATACAATGATGGGTAAACAAGAAGAAAGCCAGGCTGGCATCATTCCACAGGTGAAAAACAAAACAAAACAAAAATCTTCTCTTCATTATTAGTGTTAGTCTTAAATTGCTTTAACAGTTATTTTTATTTGGCGAACATTTATGCGGGGATTGTTTTATGTCAGGCACAAAGATGAACAACCCATTATTTTCCCTCAGAGGAGCTCACAATTGAATGGGAAGGATTGACATGTACACATGTCTGTCATTAAAGGTGGGAAAGTCAGTGTTTTGTAATGATTTTGCCATATATCCAATGCCATATTATTTTGTCATTTGAAAAGTGTTACCAGCTTGTTAAAGCTCTGTTCTAAGTCCTGGAGATGGGGGGATATTGTTGATCTGATTTTTTTTCAAATTCCATGCATAGATTACCTCTGAAGAATGTGATTATTTTTGGTTTTTTTGATAGCCTTATTCGGAGATACTTTCATTTTATTTTCCTAATTTAATACTATGACTTTAAACTTCAAACACTCTGAGATTCTCCCTCTTTTTTTTTTTTTTTAGAACAGTTAGTATTATTGGGTTTGATCCTTTATTGTTTGGGAATGAAGAAGCGTTCTGACATAGATATTTATTTATTTTTATTTTCATTATTCGTTTCACTTAGGATTTAATGGTGAAAGACATAAGTATTTAAAAAGAACTTCATTATTTACTTATTTATTTGAGACAGGGTCTCACTCTGTTGCCCATGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGAGGCCTTGTCCTCCCAGGCTCAAGTGATCCTCCTGCCTTAGCCTCCAGAGTAGCTGGGACTAAAGCCATGTGCCACCACACCTAGCTCATTTTTAAATTAAAAAAAAAAAAAATTTTTTTTTTTTTTTGAGGTGGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACAATAGGCACCCACCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGTCCTGGTCTGGATCTCCTGACCTCAGGCAATCCGCCCACCTCCGCCTCCCAAAGTGCAGGGATTGCAGGCATGAGTCACCATGCCCGGCCTTTAAAATTTTTTTTTTAGAGACAGGGTCTCACCATGTTGTCCAGGCTGGTCTCGAATGGACCTGGGCTCCATCCTGGGCTTGGGATGATCTGCCTGCCTCGACTTCCAGAAGTACTGGGATTACAGGCATGAGCCACTGTGCGGGGCCTAAAAACTTAAGAAAAAAAAAAGATTAAGTGAGAAGATTGTATTTAAAATTTTCCTTTTATAGTCATGCATCACTTAAGGGTGGGGGTACATTTTGAGAAATGCATCATTAGTCGTTAGGTGCTTTTGTCATTGTACAGATATCATAGAGTGTACTTACACAAACCCTGGAAGGTGTAAACTGCTCCACACCTAGACTGCGTTGTATAGCCTGTTGCTCCAAGGCTATAAACTTGTGTAGCATGCTACTGTACTGAATACTACAGGCAATTATAATAGGATGGTAAGTATTTGTATATCTAAACATAGAAAAGTACATTAAAAATATGATATAAAAGATTTGAAATGGCACACCTGCATAGTGCTCTTACACTGGAGCTTGCAGGGCTGGAAGTTGCTCTGGGTGAGTCAGTGAGCAAGTGGTGAGTAAATGTGAAGGCCTAGGACATTGCTTTGCAGTATTGTAGACTTTATAAATGCTGCACACTTAGGCTACACTAAATTTAGTTTTAAAAACAGTTTCCTTTCAATAATTAACCTTAGTTAAATTACTATAACTTTTTTACTTTATAAACTTTAAAATTT
|
TAGCATGAGTTCATTCTTTGATACAGTGATATAGTATTTTCATTCATAAAGTATTTGGGTTGATGGAAAGTTTATGTACACATATACATAAATATATACACATATATACATACAGAACATATTTAGTTTACACCAAATTTATACTGAATGTACACTAAATTTATACTGATTTAGACATTTCTTGAGGATTTATTTATCAGTATCTTAGGATCCTCATTACCAACATTATTGCCCATTGATCTTAGGAAATGCCAAATAATAATAATAATTATTATTATTATTATTTTTCTTCTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCGAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGGCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTGACCATGTTGGCCAGGCTGGTCTCGAGCTTCTGACCTTAAGTGATCCACCTGTGTTTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTGGAAATGCCAAATTAAAATTGCTTAGGGTACTGTTAATTTTAAGTTGAATTTTGAGGGAATGGCCAGCAAGATTGGAATGACCACAGAGAAATTGTTTTTTTTTTGTTTGTTTGTTTGTTTTTGGCTAGGCTGATCTTGAACTCCTGACCTCCTGATCCACCTGCCTCGACCTCTCAAAGTGTTGGGATTAAAGGAGTGAGCCACCGTGCCTGGCCAATTTTTTTTTTTTAATTGTAGTAGAGCAATGTGGGTTCTGAACATTTTGAAAGATGATACCGTGCCTCTACTAAAAATTCCAAAAAAAAAAAAAAATTAGGTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGTGAACTGCTTGAACCCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGAACATGACTGTGTCTCAAAAAAAAAAAAAGGAAAGAGGCTGCAGATCCACAAGGGAAACAAAAGATTACCAGTATTACGAAAATGCAGAGTAGGGCCCTTCCTGGTACCCTTACTCAGTGTGGAACCCCAAATGTTGCTGCTTCTTAGGGATTGTTCATAGAGTTTACTTCTGCATCATTCATCTCTTTGTTACATGTTTTTGGTTTTGTTTTTCCTGTTTTGTATTTTTTTTTAAAGACTGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTACACCTCCTGGGTTCAAGCAGTTCTCCTGCTTCAGCCTCCTGAGTATCTGAGATTACAGGCAGGTGCCACCACACCCGGCTGATTTTTTTAATTTTTAGTAGAGATGGGGTTTCGCTGTGTTGGCCAGGCTGGTCTCGAATTCCTATCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAGAGTGATGGGATTATAGGCATGAGCCACTGTGCCCTGCCCTGGGGAATCGATGTTTTAAACTATTGACAAAGCCTAATTGTCAAGGGAAGGGACTGAGAAGGGGATTGGAAATGCTGTTTCCTGAAAGCTGTGTTTATTGAGAAATAGTCCCAGTAGCTGGAGTGAGTTCAAAGAAGTATTTTTATATGTGGACTTGACCTTTGGTCTTTTATTCTCATTTTCCACTTAAGAAAATCTTGGCTGTGTGAATGAAAGAGTGATACTTTTAAGGTTATAGAAAGTGAAATGTAATCATGCCAGATAATTTTATATAGATATTTTTATGTATGGCTGACCTGGATGACTCTAACAGTGCATGTGTTTGTGAGTGTGTGTGTGTGCATGTGCGTGTATTTAATGAGAAAAGTAAACTTGTGTATAGGAGGCTTAAAAAATGTGTAGGGAATTTTAGGTGACTGTTCTGATTCCAGACACTTTTATTATGGAAGCAATCAAGTAAGTATAGGAAGAAATATTAATAAAAGGTTATTTATTTCTCCTTTTACTCTACAGCCCGAAGATCCCTGTTTTGCATCTCAAAACCGTGTGTACAATGACATTGGCAAGGAAATGCTCTTACACGCCTTTGAGGGATATAATGTCTGTATTTTTGCCTATGGGCAGACTGGTGCTGGAAAATCTTATACAATGATGGGTAAACAAGAAGAAAGCCAGGCTGGCATCATTCCACAGGTGAAAAACAAAACAAAACAAAAATCTTCTCTTCATTATTAGTGTTAGTCTTAAATTGCTTTAACAGTTATTTTTATTTGGCGAACATTTATGCGGGGATTGTTTTATGTCAGGCACAAAGATGAACAACCCATTATTTTCCCTCAGAGGAGCTCACAATTGAATGGGAAGGATTGACATGTACACATGTCTGTCATTAAAGGTGGGAAAGTCAGTGTTTTGTAATGATTTTGCCATATATCCAATGCCATATTATTTTGTCATTTGAAAAGTGTTACCAGCTTGTTAAAGCTCTGTTCTAAGTCCTGGAGATGGGGGGATATTGTTGATCTGATTTTTTTTCAAATTCCATGCATAGATTACCTCTGAAGAATGTGATTATTTTTGGTTTTTTTGATAGCCTTATTCGGAGATACTTTCATTTTATTTTCCTAATTTAATACTATGACTTTAAACTTCAAACACTCTGAGATTCTCCCTCTTTTTTTTTTTTTTTAGAACAGTTAGTATTATTGGGTTTGATCCTTTATTGTTTGGGAATGAAGAAGCGTTCTGACATAGATATTTATTTATTTTTATTTTCATTATTCGTTTCACTTAGGATTTAATGGTGAAAGACATAAGTATTTAAAAAGAACTTCATTATTTACTTATTTATTTGAGACAGGGTCTCACTCTGTTGCCCATGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGAGGCCTTGTCCTCCCAGGCTCAAGTGATCCTCCTGCCTTAGCCTCCAGAGTAGCTGGGACTAAAGCCATGTGCCACCACACCTAGCTCATTTTTAAATTAAAAAAAAAAAAAATTTTTTTTTTTTTTTGAGGTGGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACAATAGGCACCCACCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGTCCTGGTCTGGATCTCCTGACCTCAGGCAATCCGCCCACCTCCGCCTCCCAAAGTGCAGGGATTGCAGGCATGAGTCACCATGCCCGGCCTTTAAAATTTTTTTTTTAGAGACAGGGTCTCACCATGTTGTCCAGGCTGGTCTCGAATGGACCTGGGCTCCATCCTGGGCTTGGGATGATCTGCCTGCCTCGACTTCCAGAAGTACTGGGATTACAGGCATGAGCCACTGTGCGGGGCCTAAAAACTTAAGAAAAAAAAAAGATTAAGTGAGAAGATTGTATTTAAAATTTTCCTTTTATAGTCATGCATCACTTAAGGGTGGGGGTACATTTTGAGAAATGCATCATTAGTCGTTAGGTGCTTTTGTCATTGTACAGATATCATAGAGTGTACTTACACAAACCCTGGAAGGTGTAAACTGCTCCACACCTAGACTGCGTTGTATAGCCTGTTGCTCCAAGGCTATAAACTTGTGTAGCATGCTACTGTACTGAATACTACAGGCAATTATAATAGGATGGTAAGTATTTGTATATCTAAACATAGAAAAGTACATTAAAAATATGATATAAAAGATTTGAAATGGCACACCTGCATAGTGCTCTTACACTGGAGCTTGCAGGGCTGGAAGTTGCTCTGGGTGAGTCAGTGAGCAAGTGGTGAGTAAATGTGAAGGCCTAGGACATTGCTTTGCAGTATTGTAGACTTTATAAATGCTGCACACTTAGGCTACACTAAATTTAGTTTTAAAAACAGTTTCCTTTCAATAATTAACCTTAGTTAAATTACTATAACTTTTTTACTTTATAAACTTTAAAATTTNN
|
benign
| 2,005 |
Does the variant on chromosome 1 at location 10267565 affecting gene KIF1B (kinesin family member 1B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
TGAGCCACCATGCCCAGCCTTTAACTGATTTTAAAACACAAATTAAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCTGCACTTTGGGAGGCCAAGATGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTGGTGAGACCCTGTCTCTGCAAAAAAAAATTTTTTTTAATTAGCTAGGCATGGTGGCACGTGCCTGTAGTCCCAGTTACTCCAGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGTTTGAGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGATACAGTCTCAAAAAATATATAAAAATAAAATACAGTATAAAAATACAGTTAGAGACTGAATGAAAGAAAAAGGCAATAGAAATGGAATTAAGATTCCATTCCAGATACTCTGAAAACATGTCCATAGACATTTAAAGTTTAAAAATGCAGGAGCTGTAATGTAAGCTTGAATAGCTCCATGATACAGAAGGATCTGTTTCCTGGGTAGCATCGTAATGTGGCCTATTGTGATGAATTTACCCTAGTTCAGAGCCTTGTTTGCTTAGAAGTCTGATTTTGTAGATTCATCAAGAAAAGGACTATCCTTACAAGTTAAGACTTGAGTAAAGCTCATTTGACTGATGTTATGAAACCAACTTGTTGGTTTGTTACTTTACCATGAGAAATAACTATTACTAAGGCTAGAACACTCAAGCCATTCGCAAGACTATTTAATATATTTCTGTGGACAGACCTCGCTGTTGGAAGCCTGTTGGTTGTTTGGTGTGCATGGAATTAGAAGGAGAGGAGTTGCTTAGATACATGTTTAATTGCCCCAGGTTAAGAAATGATAGCTTAATGCATTAATCACCATGATCGAATGGTCCTGCCAATGAGACAAGAATTTATGAAGTGTATTGTCTGAGGCTTCTTTCTCCCTCACAAATCTTGGATAGGTCCTGCCACCACCAGCTTTCATGCTGGTCAACCCTCATCCCTTCTGGAGGATACATCGTCCATAGTTAGTAACAGTGTGGTGAGCCTTAAAGAATTAGCATCACCCGTCTGTTTTGTCTTCTCTGCTCTGTAATATTGATATTGTTCCTTGGTTTTAACTCTAATAGAAATCTTATTTCCGAGTTCTTGGAGTAACCTCAATGCAAATCCCAGTTACTGACAACAGTATACATTTTAAAAAACATTGATAACTGATAAATTGCTACTAAAATATCTTTTAGCTGTCACTACATTCCAGAGATAATCTGTTTACCTCTCCCTTACAGAGAAAGTCTGAAGGCTGGTTCTAACCTATTCAGTGTAATTACCTGTGCGTATTGTTAATAGAATAAAAGGGCCTAGAGTTACGGCATTTCACTTTGTAAAGGTTGCTGATCTCTAATCTTAGAGCTTTTAATAAAAGTTAAAAAAATTTTTTTTCTGTATGTGATTTCTTTTGTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTATTAAGACAGAGCCTCACTCTGTCACCGAGGCTGAAGTGCAGGGGTGTGATATCGGCTCACTCTAACCTCCACCTCCCAGGTACAGGCGATTTCTCCTGCCTTAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCACCACGCCTGGCTCCTTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTGGCCAGACTGGTCTCGAACTCGTAGTTCGAGTGATCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTTCTGTATGTGATTTCTTTTTCACTCTAATTCACTTTACTAATTTGTTCATAGGTGAGCTACATGGAAATTTACTGTGAAAGAGTACGAGATTTGCTGAATCCAAAAAACAAGGGTAATTTGCGTGTGCGTGAACACCCACTTCTTGGACCCTATGTGGAGGATCTGTCCAAGTTGGCAGTTACTTCCTACACAGACATTGCTGACCTCATGGATGCTGGGAACAAAGCCAGGTATGGTAGGAAATAGAGTAATGACTGAGGTCTTTGGCACCTTTTGAGGTCCTTTTTTCCCAGTTAAGGGTTTGAGGCCACATTTATAGCTATGAAAGTTGCTTTAATTGTGGAGTCCTCTGATCCTTTGACTGTGCTGTAACAGTGAGGGCTTCAGAGTGTTAAGTATCTTCTCATCTAAACAGTACATTGCTGAAACATGTTAGAGCTCTCATTGAGTTTTACTCTTAGGTTTTGATCAAGTCATGGTAAAATGTTAGTTATCATGTATATATGCGGCTGTGGTAGTAATTGATTCTGGAATAAATGAGCACCAATAAAGAATAAAAATTAAATGCTTCATTGGTTTCTAAAGGGATAGCTGGAGTATGAAAAATGATTCTGATGGGGTGCCTTTGGAATTGGAGAGTAACTTGATGGGCTCACAAATAAGGCAGTATTGAGAGCAATTGTGTAAGTGACAATCTTGCAATCTGTGAATAAGTTTAAGACTATTGCTTGTGATTGTTATGCTTATAATGTGGAGCCTGCTGTCCATTTCAACTCTCATCTAAGAATTCCCTTGTCACGTGGTCACCTTTATGTTTATTTAGGACAGTGGCAGCTACAAACATGAATGAAACAAGTAGCCGTTCCCACGCTGTGTTTACGATTGTTTTCACCCAGAAGAAACACGATAATGAGACCAACCTTTCCACTGAGAAGGTAGGAGAGTTTCAGTCTCTAGGCTTGAGTTGTGAAGGATGGAGATTTTGAGAAGTCCCTTTTGTTGCCCTCTGCTTTTTGTGGAAGGTTGGGTGTTGGGGGGTGCTCTTTTACTTAATGGAGGGTGTTTTATACCTCTGCTTATCATTTTTCTTCCACCCTACACCAGTTTTCTGTATAGGTTCTTAAATGAAGTTGTAAGATAGAGAATAGGGTTAAGAAAAAAACAATCCAGGACTTTGGGTCTCAAAAACTACTCAATACAAGACAGTTAAGCAGTCTTGCAGGAGAAAGTTCTTTCTTTTCTTCTTCTTGACTGAACCTTTTTATTACCTTATTAGCTGCCTTTGGTATGTGTATTCTTTTTTTTTTTTTTTTTGAGCTATGATAATGTTATAGTGGGATTAAATGTTTAAGCAAATGATATGTTTCATTCCTGGAAAATAACTCCACAACAGTTCTGGTGTTCTTCAAATACCTTTCTTTGCTTATTGATTTTTCATTTTCTATAGTGGTTAAATGTCACAGACTTTAGCGTTGGATTGCTTGCTTTGAATTCTGATTCTGCCACTCTTCAGCTATATTACTTTGGGCAAACTACTTAACCTCTTTGTTCCTCAGTTTCCCCATCCATAACAGCCTGATAGGATTGTTAAAAAGATTAAGCGTTAATATAGGTTAAGTGCATACAATAATGTCTGGCACAGAGTAGCCACTCAATAATGTTAATTTTATTGTTATTGTTAGTAATAAAAAATTTATGTTGAATACTACTCTATCTGCATCCCTAAGAAGGATGCACCTGGATTTTTAAGCTTCAAGTTAGGTTTATTGTACTGGCAATTATAAAAGATCCTTTGCCTTATAAAATGAGTACTTTAGACACCACTGTCACTAATTATTAAAATCACCTTTTATTTGTTGACTTATTTCTAGCTGAAAATGATTTTTAAAAATATACTCCTGCTGGGCCGGGTATGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCCAAGGCAGACAGATCAAGAGGTCAGGAGTTTGGGACCAGCCTGGCCAGCATGGTGAAACCCAGTCTCTACTAAAAATATAAAAAAATTGGCTGTGCGTGGTGGCATGCGCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCATGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAACACACTCCTACTGGGCATGGTGGCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGG
|
TGAGCCACCATGCCCAGCCTTTAACTGATTTTAAAACACAAATTAAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCTGCACTTTGGGAGGCCAAGATGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTGGTGAGACCCTGTCTCTGCAAAAAAAAATTTTTTTTAATTAGCTAGGCATGGTGGCACGTGCCTGTAGTCCCAGTTACTCCAGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGTTTGAGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGATACAGTCTCAAAAAATATATAAAAATAAAATACAGTATAAAAATACAGTTAGAGACTGAATGAAAGAAAAAGGCAATAGAAATGGAATTAAGATTCCATTCCAGATACTCTGAAAACATGTCCATAGACATTTAAAGTTTAAAAATGCAGGAGCTGTAATGTAAGCTTGAATAGCTCCATGATACAGAAGGATCTGTTTCCTGGGTAGCATCGTAATGTGGCCTATTGTGATGAATTTACCCTAGTTCAGAGCCTTGTTTGCTTAGAAGTCTGATTTTGTAGATTCATCAAGAAAAGGACTATCCTTACAAGTTAAGACTTGAGTAAAGCTCATTTGACTGATGTTATGAAACCAACTTGTTGGTTTGTTACTTTACCATGAGAAATAACTATTACTAAGGCTAGAACACTCAAGCCATTCGCAAGACTATTTAATATATTTCTGTGGACAGACCTCGCTGTTGGAAGCCTGTTGGTTGTTTGGTGTGCATGGAATTAGAAGGAGAGGAGTTGCTTAGATACATGTTTAATTGCCCCAGGTTAAGAAATGATAGCTTAATGCATTAATCACCATGATCGAATGGTCCTGCCAATGAGACAAGAATTTATGAAGTGTATTGTCTGAGGCTTCTTTCTCCCTCACAAATCTTGGATAGGTCCTGCCACCACCAGCTTTCATGCTGGTCAACCCTCATCCCTTCTGGAGGATACATCGTCCATAGTTAGTAACAGTGTGGTGAGCCTTAAAGAATTAGCATCACCCGTCTGTTTTGTCTTCTCTGCTCTGTAATATTGATATTGTTCCTTGGTTTTAACTCTAATAGAAATCTTATTTCCGAGTTCTTGGAGTAACCTCAATGCAAATCCCAGTTACTGACAACAGTATACATTTTAAAAAACATTGATAACTGATAAATTGCTACTAAAATATCTTTTAGCTGTCACTACATTCCAGAGATAATCTGTTTACCTCTCCCTTACAGAGAAAGTCTGAAGGCTGGTTCTAACCTATTCAGTGTAATTACCTGTGCGTATTGTTAATAGAATAAAAGGGCCTAGAGTTACGGCATTTCACTTTGTAAAGGTTGCTGATCTCTAATCTTAGAGCTTTTAATAAAAGTTAAAAAAATTTTTTTTCTGTATGTGATTTCTTTTGTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTATTAAGACAGAGCCTCACTCTGTCACCGAGGCTGAAGTGCAGGGGTGTGATATCGGCTCACTCTAACCTCCACCTCCCAGGTACAGGCGATTTCTCCTGCCTTAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCACCACGCCTGGCTCCTTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTGGCCAGACTGGTCTCGAACTCGTAGTTCGAGTGATCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTTCTGTATGTGATTTCTTTTTCACTCTAATTCACTTTACTAATTTGTTCATAGGTGAGCTACATGGAAATTTACTGTGAAAGAGTACGAGATTTGCTGAATCCAAAAAACAAGGGTAATTTGCGTGTGCGTGAACACCCACTTCTTGGACCCTATGTGGAGGATCTGTCCAAGTTGGCAGTTACTTCCTACACAGACATTGCTGACCTCATGGATGCTGGGAACAAAGCCAGGTATGGTAAGGAAATAGAGTAATGACTGAGGTCTTTGGCACCTTTTGAGGTCCTTTTTTCCCAGTTAAGGGTTTGAGGCCACATTTATAGCTATGAAAGTTGCTTTAATTGTGGAGTCCTCTGATCCTTTGACTGTGCTGTAACAGTGAGGGCTTCAGAGTGTTAAGTATCTTCTCATCTAAACAGTACATTGCTGAAACATGTTAGAGCTCTCATTGAGTTTTACTCTTAGGTTTTGATCAAGTCATGGTAAAATGTTAGTTATCATGTATATATGCGGCTGTGGTAGTAATTGATTCTGGAATAAATGAGCACCAATAAAGAATAAAAATTAAATGCTTCATTGGTTTCTAAAGGGATAGCTGGAGTATGAAAAATGATTCTGATGGGGTGCCTTTGGAATTGGAGAGTAACTTGATGGGCTCACAAATAAGGCAGTATTGAGAGCAATTGTGTAAGTGACAATCTTGCAATCTGTGAATAAGTTTAAGACTATTGCTTGTGATTGTTATGCTTATAATGTGGAGCCTGCTGTCCATTTCAACTCTCATCTAAGAATTCCCTTGTCACGTGGTCACCTTTATGTTTATTTAGGACAGTGGCAGCTACAAACATGAATGAAACAAGTAGCCGTTCCCACGCTGTGTTTACGATTGTTTTCACCCAGAAGAAACACGATAATGAGACCAACCTTTCCACTGAGAAGGTAGGAGAGTTTCAGTCTCTAGGCTTGAGTTGTGAAGGATGGAGATTTTGAGAAGTCCCTTTTGTTGCCCTCTGCTTTTTGTGGAAGGTTGGGTGTTGGGGGGTGCTCTTTTACTTAATGGAGGGTGTTTTATACCTCTGCTTATCATTTTTCTTCCACCCTACACCAGTTTTCTGTATAGGTTCTTAAATGAAGTTGTAAGATAGAGAATAGGGTTAAGAAAAAAACAATCCAGGACTTTGGGTCTCAAAAACTACTCAATACAAGACAGTTAAGCAGTCTTGCAGGAGAAAGTTCTTTCTTTTCTTCTTCTTGACTGAACCTTTTTATTACCTTATTAGCTGCCTTTGGTATGTGTATTCTTTTTTTTTTTTTTTTTGAGCTATGATAATGTTATAGTGGGATTAAATGTTTAAGCAAATGATATGTTTCATTCCTGGAAAATAACTCCACAACAGTTCTGGTGTTCTTCAAATACCTTTCTTTGCTTATTGATTTTTCATTTTCTATAGTGGTTAAATGTCACAGACTTTAGCGTTGGATTGCTTGCTTTGAATTCTGATTCTGCCACTCTTCAGCTATATTACTTTGGGCAAACTACTTAACCTCTTTGTTCCTCAGTTTCCCCATCCATAACAGCCTGATAGGATTGTTAAAAAGATTAAGCGTTAATATAGGTTAAGTGCATACAATAATGTCTGGCACAGAGTAGCCACTCAATAATGTTAATTTTATTGTTATTGTTAGTAATAAAAAATTTATGTTGAATACTACTCTATCTGCATCCCTAAGAAGGATGCACCTGGATTTTTAAGCTTCAAGTTAGGTTTATTGTACTGGCAATTATAAAAGATCCTTTGCCTTATAAAATGAGTACTTTAGACACCACTGTCACTAATTATTAAAATCACCTTTTATTTGTTGACTTATTTCTAGCTGAAAATGATTTTTAAAAATATACTCCTGCTGGGCCGGGTATGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCCAAGGCAGACAGATCAAGAGGTCAGGAGTTTGGGACCAGCCTGGCCAGCATGGTGAAACCCAGTCTCTACTAAAAATATAAAAAAATTGGCTGTGCGTGGTGGCATGCGCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCATGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAACACACTCCTACTGGGCATGGTGGCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAG
|
benign
| 2,037 |
Gene mutation in KIF1B (kinesin family member 1B) at chromosome 1, position 10297148—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
TAACCTCAATGAAGACCCACTAATGTCTGAGTGCCTACTTTATTACATCAAAGATGGAATTACAAGGTATATTTATTTCCTGTTTTGGTCACTTCGTGTGTTTTCCCCCTCTTAGATAATTGAATAACTAAAGGGAAGGGGTTGAAAAAATTAACGTAATGATTTGCTGTATTTTTTGTCTGAAATAGTTACAAACTATGCTCTCTTTCCAAATAATGTGTTTTTGCCACTGGAGCCAGTTACTATGTAGTTTTTCTCTGAAGACCCTAAATAATTTTTTTTTCCTTTAACAAATATACATTCCTTAGGGATTTTATTTGACTCATGTCTTTATAATACTGTATGAGTTACATTGGTATATCAGTGCTCCTTGTTTCTTATTCTGATGTAGAGAGGTTGATCATATGTGAGGATAGAATTCATAGTTGAAAGCTTCTGATGCAACAAGGCAATACCTTTTTTGTACGTACCAAAGGATATTCTTTGGAATAAAGAGGTTCATTGTTTGTAGTGCTTTCTGTGTCTGAATTTCCCTGGGAAACACTTTCTCTTGTGTTCAGGGTTGGCCAAGCAGATGCTGAGCGGCGCCAGGACATAGTGCTGAGCGGGGCTCACATTAAAGAAGAGCATTGTATCTTCCGGAGTGAGAGAAGCAACAGCGGGGAAGGTGAGCATTCCTGGCTGGAGCTTCAGCAACAACATTTTCATTTTATATTATGAGAAATCCTTAAGACTTTGTATTCTCTGTCTATCAGTAGTACTTTCTTATACAATCTAATTCTGAAAAATGGAGAGACCTGGGCTGCTTATGAATGCAGAGATGGACAAGGCTGCTTTACATGAAAATAGCTTGGACAAAAGAAGCCCTTTTTTACTGCCAAGAACTGAGAAGGACATAGGCAATTAGGCTTGGTCTGGAATGTTAATTATTTAATAGAAAAGTAAGAAAATAGCAGATATCCTGGGTAATAGGAGATTTGAAGGACATTAAGTCAACCCAGCAGAATTTATTTTTATCTAAAAGGGAAGAAAAAGTCAGTCTTGATTTTTGCCTGGGTTATTAACAAAACAACAATTTAATGGTTTTTTTCTGTTATATAAGTCACTCATTCCCTTATCAAAATATTAGCTTCTCAGTCTTTAGTTTCTGGTTATTACCTATATCTCATCCTTACAATTTCTGATGGTTCTGAGTTTTATTGACTGAACCGTCAGAGATCCCTGAAACTAATATTTCCTATCATCTTCTTAGGTTTATCAAATAGAGTTAAATGTTCTTGTGTTAGCCATGGCCACAGATAGCCTCTTCTATTGGGGCTAGTTCTGGTACCCCAAAATGAACTACTGTATAGACAACTTCAGCCACTTGATTGATTGCAGGGATTTATTCTACTTACTGCAAATCCTGATAAGCAACTGCTTTCCATTATTTGATTCCAATAGTTTGTAATGATAACATTAGTTTGTGTTTGTTCCTCTTAGTTATCGTGACCTTAGAGCCCTGTGAGCGCTCAGAAACCTACGTAAATGGCAAGAGGGTGTCCCAGCCTGTTCAGCTGCGCTCAGGTGAGACTGGGAGAGGTTTGCCATCTTCAGCAATGTGCACATGGCTTCTGTGACAACTCTAATTTTTGGCTGTTTAAAGGCTGAAGTAATAGTCAGCATTAGGATTTTTGTTCTTGTAAAAACAACAGCTCTGAAAGCTGTCTTTTCACATTAGGGAGGGGTGAGGTTGTTAAATAGATACTATATATTAAAAAAATTATTTCTTAACCCTATTTTTCTGTTTTGTGCTAGGAAACCGTATCATCATGGGTAAAAACCATGTTTTCCGCTTTAACCACCCGGAACAAGCACGAGCTGAGCGAGAGAAGACTCCTTCTGCTGAGACCCCCTCTGAGCCTGTGGACTGGACATTTGCCCAGAGGGAGCTTCTGGAAAAACAAGGAATTGATATGAAACAAGAGATGGAGAAAAGGTAATGCACAGTTACGCAGCCCATATGACTGTTTCTTCTTTTAAACATGTAATACTAATAGCATTCTTGAATTTTTTTTTTTTTTTTTACTTCTAGGCTACAGGAAATGGAGATCTTATACAAAAAGGAGAAGGAAGAAGCAGATCTTCTTTTGGAGCAGCAGAGACTGGTAGGAGTCCTGAATCTGCTAAACTGTTGGGAAAAGGGCAGCTTGTTCCCATACTTTCCCTGTTCCACAGAGCAGTACTCACCCAAATTGCTTCTGTCTCAATGATACCAAGCACTATTCTTTAATTTCCTTAATGGAGAATGAACTTAAATCTCCCGGTAGCCTTAGCCTGAAAAAATAGTCCACAGAGGTACTCTTTTGGGCTTTTTATGTCTTAAAGCCAAATCTTAACTTCTGTTACAACCAAATACTTTTTAAGGAAATAGAGCTTTTCTGGTAGCCTTTGCCTCTTGATAGTGGTTTTGGAATTTGCTTCAGTGGTGGTTCTTTAAATGATAATTACTCTGAATATTGAATTTGGTGAGAGTTTGCCTTGGTTTTGTTTCTGATCACTTGATAGTACTAATTCTCTGCTCTTGGGCTGACTTTGGGATTGTTCTTACGCTGGGCAGACTTTTTTTTTTTAAGTTAAACTGTGTCTAAAAGTGTTGCTGCACAGTTGCATGTGTTACTCCTTTCCTTATCCCCTGCATGGAGTCTGAATTCTCAATCAGGTTCTCAGTGGCATGTGTGGTAGCGGTGGGAGCAAAGGCTGCATACCCAGCCCGGACAGGACAGAAGGCTTGCTTCCTTTGAGGGAAGGAGGATTTGAGTGAGCAGCTGGAAAGTCTGTTTAAGGTCCCAGCTATTGATACAATACTAATGGCTTCAGCGTTTTATAATGGTAATTGATTTCCCAGATTTGATAGAAACTGAATCTCATGAATAAATAAGTTGATCCATTAGTTAGATTTTCATTTTTAAAGCCAACCAAACAACCAATTTTGGTTAACAAAGCTGTGGTTATAAGAACCTTCTCAGCATTCATTTGATATGTAAGAATAAAGTATAACTAACCTTTGGATACTGTGGATGCAGTTTAGGAAGTTCTCATTTTTTAAGATTCAGTTGTATCTTTCTTTTAAGGTAAGGGGGCATTAGGGAGAAAGTTCAAGCACTGGCTTCTTTCCTTAGTATAAAATACAGCATGTAAACTACAGCCTTCTAGTCATGCTCTGTGCTTTGGAGAAGAAGGGGCTTAGTGCTAAGTGGGCCAGAAACGTGAAGGACTTGAGCACAAGCAACCTTTTCCAGAATACCTCAGTTCTCAGGCATGGGCATGGATTAAACCAGTTAGTTTGTTATCTTGTAAATTATAGTAAAGCCCTAAAAAGAATGGATTGTAAGAATAAATCAAGGGTTTGGGGCAAGATAATAGCAGTGTTACCAACAGAGGCTCTTTAGGAGGCCTTTTTAGCATTAAGTTTTTAATGAAAACGGAAAGAACTAGCTACAATGTGATTAGTGGCTTGAAAGGTTTGTGACACAAGAAGATGTCTTTTATCTTAATAATGTAGTACATTCTAATAACATGCCTCTGATGGTCTGTGAGAGATCAAATGAGGACAGGTGTAATTAAGCTCTATTATTAACAATAATGCCTTGTATTTGTATAGTGCTTTATAATTTACAGAGAGCGTTAACATCCATCAATTTATTTGACCCTCAAAACAACCCTCTTTGTTTACTTATGCATATGTATAAGTAAAATATGTAATATTACCTCCAGTTGAGGAAACCAAAACTTGGCTGGGCGCGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAAGCCTAGGCAGGTGGATCCTGGGACCTCACTTAGAATAACTAAGCACGGTGCTCGCTTCGGCAGCACATATACTAAAATTGGAACGATACAGAGAAGATTAGCATGGCCCCTGCGCAAGGATGACACGCAAATTCGTGAAGCGTTCCATATTTAAAAAAAAAAAAAAAGAAACAAAAACCACAAAAACAAAACAAAACAAGACAAACAAAAAAAAAGAATAACTAAGCACGGCAGAATAAGGATGCCTGGTGCTATCCATAACCAAGAGTTGGTGATC
|
TAACCTCAATGAAGACCCACTAATGTCTGAGTGCCTACTTTATTACATCAAAGATGGAATTACAAGGTATATTTATTTCCTGTTTTGGTCACTTCGTGTGTTTTCCCCCTCTTAGATAATTGAATAACTAAAGGGAAGGGGTTGAAAAAATTAACGTAATGATTTGCTGTATTTTTTGTCTGAAATAGTTACAAACTATGCTCTCTTTCCAAATAATGTGTTTTTGCCACTGGAGCCAGTTACTATGTAGTTTTTCTCTGAAGACCCTAAATAATTTTTTTTTCCTTTAACAAATATACATTCCTTAGGGATTTTATTTGACTCATGTCTTTATAATACTGTATGAGTTACATTGGTATATCAGTGCTCCTTGTTTCTTATTCTGATGTAGAGAGGTTGATCATATGTGAGGATAGAATTCATAGTTGAAAGCTTCTGATGCAACAAGGCAATACCTTTTTTGTACGTACCAAAGGATATTCTTTGGAATAAAGAGGTTCATTGTTTGTAGTGCTTTCTGTGTCTGAATTTCCCTGGGAAACACTTTCTCTTGTGTTCAGGGTTGGCCAAGCAGATGCTGAGCGGCGCCAGGACATAGTGCTGAGCGGGGCTCACATTAAAGAAGAGCATTGTATCTTCCGGAGTGAGAGAAGCAACAGCGGGGAAGGTGAGCATTCCTGGCTGGAGCTTCAGCAACAACATTTTCATTTTATATTATGAGAAATCCTTAAGACTTTGTATTCTCTGTCTATCAGTAGTACTTTCTTATACAATCTAATTCTGAAAAATGGAGAGACCTGGGCTGCTTATGAATGCAGAGATGGACAAGGCTGCTTTACATGAAAATAGCTTGGACAAAAGAAGCCCTTTTTTACTGCCAAGAACTGAGAAGGACATAGGCAATTAGGCTTGGTCTGGAATGTTAATTATTTAATAGAAAAGTAAGAAAATAGCAGATATCCTGGGTAATAGGAGATTTGAAGGACATTAAGTCAACCCAGCAGAATTTATTTTTATCTAAAAGGGAAGAAAAAGTCAGTCTTGATTTTTGCCTGGGTTATTAACAAAACAACAATTTAATGGTTTTTTTCTGTTATATAAGTCACTCATTCCCTTATCAAAATATTAGCTTCTCAGTCTTTAGTTTCTGGTTATTACCTATATCTCATCCTTACAATTTCTGATGGTTCTGAGTTTTATTGACTGAACCGTCAGAGATCCCTGAAACTAATATTTCCTATCATCTTCTTAGGTTTATCAAATAGAGTTAAATGTTCTTGTGTTAGCCATGGCCACAGATAGCCTCTTCTATTGGGGCTAGTTCTGGTACCCCAAAATGAACTACTGTATAGACAACTTCAGCCACTTGATTGATTGCAGGGATTTATTCTACTTACTGCAAATCCTGATAAGCAACTGCTTTCCATTATTTGATTCCAATAGTTTGTAATGATAACATTAGTTTGTGTTTGTTCCTCTTAGTTATCGTGACCTTAGAGCCCTGTGAGCGCTCAGAAACCTACGTAAATGGCAAGAGGGTGTCCCAGCCTGTTCAGCTGCGCTCAGGTGAGACTGGGAGAGGTTTGCCATCTTCAGCAATGTGCACATGGCTTCTGTGACAACTCTAATTTTTGGCTGTTTAAAGGCTGAAGTAATAGTCAGCATTAGGATTTTTGTTCTTGTAAAAACAACAGCTCTGAAAGCTGTCTTTTCACATTAGGGAGGGGTGAGGTTGTTAAATAGATACTATATATTAAAAAAATTATTTCTTAACCCTATTTTTCTGTTTTGTGCTAGGAAACCGTATCATCATGGGTAAAAACCATGTTTTCCGCTTTAACCACCCGGAACAAGCACGAGCTGAGCGAGAGAAGACTCCTTCTGCTGAGACCCCCTCTGAGCCTGTGGACTGGACATTTGCCCAGAGGGAGCTTCTGGAAAAACAAGGAATTGATATGAAACAAGAGATGGAGAAAAGGTAATGCACAGTTACGCAGCCCATATGACTGTTTCTTCTTTTAAACATGTAATACTAATAGCATTCTTGAATTTTTTTTTTTTTTTTTTACTTCTAGGCTACAGGAAATGGAGATCTTATACAAAAAGGAGAAGGAAGAAGCAGATCTTCTTTTGGAGCAGCAGAGACTGGTAGGAGTCCTGAATCTGCTAAACTGTTGGGAAAAGGGCAGCTTGTTCCCATACTTTCCCTGTTCCACAGAGCAGTACTCACCCAAATTGCTTCTGTCTCAATGATACCAAGCACTATTCTTTAATTTCCTTAATGGAGAATGAACTTAAATCTCCCGGTAGCCTTAGCCTGAAAAAATAGTCCACAGAGGTACTCTTTTGGGCTTTTTATGTCTTAAAGCCAAATCTTAACTTCTGTTACAACCAAATACTTTTTAAGGAAATAGAGCTTTTCTGGTAGCCTTTGCCTCTTGATAGTGGTTTTGGAATTTGCTTCAGTGGTGGTTCTTTAAATGATAATTACTCTGAATATTGAATTTGGTGAGAGTTTGCCTTGGTTTTGTTTCTGATCACTTGATAGTACTAATTCTCTGCTCTTGGGCTGACTTTGGGATTGTTCTTACGCTGGGCAGACTTTTTTTTTTTAAGTTAAACTGTGTCTAAAAGTGTTGCTGCACAGTTGCATGTGTTACTCCTTTCCTTATCCCCTGCATGGAGTCTGAATTCTCAATCAGGTTCTCAGTGGCATGTGTGGTAGCGGTGGGAGCAAAGGCTGCATACCCAGCCCGGACAGGACAGAAGGCTTGCTTCCTTTGAGGGAAGGAGGATTTGAGTGAGCAGCTGGAAAGTCTGTTTAAGGTCCCAGCTATTGATACAATACTAATGGCTTCAGCGTTTTATAATGGTAATTGATTTCCCAGATTTGATAGAAACTGAATCTCATGAATAAATAAGTTGATCCATTAGTTAGATTTTCATTTTTAAAGCCAACCAAACAACCAATTTTGGTTAACAAAGCTGTGGTTATAAGAACCTTCTCAGCATTCATTTGATATGTAAGAATAAAGTATAACTAACCTTTGGATACTGTGGATGCAGTTTAGGAAGTTCTCATTTTTTAAGATTCAGTTGTATCTTTCTTTTAAGGTAAGGGGGCATTAGGGAGAAAGTTCAAGCACTGGCTTCTTTCCTTAGTATAAAATACAGCATGTAAACTACAGCCTTCTAGTCATGCTCTGTGCTTTGGAGAAGAAGGGGCTTAGTGCTAAGTGGGCCAGAAACGTGAAGGACTTGAGCACAAGCAACCTTTTCCAGAATACCTCAGTTCTCAGGCATGGGCATGGATTAAACCAGTTAGTTTGTTATCTTGTAAATTATAGTAAAGCCCTAAAAAGAATGGATTGTAAGAATAAATCAAGGGTTTGGGGCAAGATAATAGCAGTGTTACCAACAGAGGCTCTTTAGGAGGCCTTTTTAGCATTAAGTTTTTAATGAAAACGGAAAGAACTAGCTACAATGTGATTAGTGGCTTGAAAGGTTTGTGACACAAGAAGATGTCTTTTATCTTAATAATGTAGTACATTCTAATAACATGCCTCTGATGGTCTGTGAGAGATCAAATGAGGACAGGTGTAATTAAGCTCTATTATTAACAATAATGCCTTGTATTTGTATAGTGCTTTATAATTTACAGAGAGCGTTAACATCCATCAATTTATTTGACCCTCAAAACAACCCTCTTTGTTTACTTATGCATATGTATAAGTAAAATATGTAATATTACCTCCAGTTGAGGAAACCAAAACTTGGCTGGGCGCGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAAGCCTAGGCAGGTGGATCCTGGGACCTCACTTAGAATAACTAAGCACGGTGCTCGCTTCGGCAGCACATATACTAAAATTGGAACGATACAGAGAAGATTAGCATGGCCCCTGCGCAAGGATGACACGCAAATTCGTGAAGCGTTCCATATTTAAAAAAAAAAAAAAAGAAACAAAAACCACAAAAACAAAACAAAACAAGACAAACAAAAAAAAAGAATAACTAAGCACGGCAGAATAAGGATGCCTGGTGCTATCCATAACCAAGAGTTGGTGAT
|
benign
| 2,116 |
Is the variant located on chromosome 1 at position 10339753, gene KIF1B (kinesin family member 1B), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
TGTCCTGGAATGCAACAGGGTTCCCTGGCAGGAGGAGCATGCTGCACATCCTGCTGCAGGGCTCTGCTGTGAGCGGTCCCCCTTTACCAGGAATGTAGGGTCTGATCACATAAGCCTGTTGATGAGTCTTTCTAGTCCTCTTCATGTTGAAATGTCTTATTAATAAGCCTGAAAGCAATGACTTATCTAGCTAGCAATTACGCCTATTTAATACTCGGGAAAAGGAAAATTTAAACAATGTAAAGAAGGATAAATTCTACATCAACTGAAAAAAGCTAGTATGTAGGGAAGATGTGATACCTCTCATTTCTCATCTACATAGGACTTGCTCTTTCCCGCGGCCCTCTCAAACCCTGTGCTCTGGATGCTTTCTTCTCAAGACTGCCCCAGGAAAACATTTTTTTGTGAATCTTCAGTTTTAATACCTCCAAACTTCAATTTGTCTTTTCAGTACTTGGAAAGGGCCACAGTACAAGAGACTGAAGTGTGACCCCTCCATACCTACCGCCCTCAGTTTGCCACTGGTGCCACCAAGAGGCTGCTTTGGGTTCTGCCATCCCTCTCCCCTCAGAATGTGCCTTGGCCGTCCCATGGGTCCTAGTGCAGTTTATAAAGCTTTTGTATAGGTTTTATCACAGAAAATTGAGTCAAATGTGATTTAAATTAAATGTGATCACTATATAGTAAGCCACTAATATCATTTGCTACAAGTCATAGTTGTTGGAATATTACCCATTGAGCATTGATTTCACCTATTTAATGTGTTTTCACTCATACCCTCAAACTTAGGGCAGGATAGTGTTCACCAGATGAATCTGTTTTTTGGAACTGTTGCTATTATTCTAATCAGGCAACTGATACGTTTTATGGAAAACATCTATTTGGTTAACTGATGTCTGAAGTGACAATAATAGTGAGTTGACCTTTGTCCTACAATCTCCTAAAAAGAGCAGCATCTCTACCTGGTGTTAGCTCTGGGGAAAAGGGCATGTTGCTTCTGTTGAAAGCAGCCTCAAAGGCGTCCTGTGTTTTTATAGTCGCTCCTCTGGCCTGTGCCGGGAAGGTATGGCTGCAGAGCACTGTGAATGAGTTCACCTGTCGTCAGGGAACCCCAGGAATGCTGCGGTGCCAGCAATACAGGAATCAGGGATTTGGAGCACTTGGCAAAAGCATGCTAGTGTTCTCAGACGGGTGAACTAATTTGGAAGACAACAAGTTCATATTACCAGTCTGTCTGTCCCCCCAGTTGAAAATAGTTTCTTTTTCTCCATTTTTTCTTGATGGAAGGGGTGTCCTTCTGATGGATTTTTCTATCTGGCAGTAAATCTTTGTGTTGGGTCCTCTTTAACTGTGCAGTTCTTTTTATTTCAGACTAATAATAGGGAGAGAGAGAGAGAGAACGATAACATCTCACTATCTGTGAAAATAACTAAATATAGCCCATTGTTTTAACAAATCTTTCCAGAGTATCTTCTGTGTGTCGAGACCTGTGGGAAAACGCTTGCTGTCTGGGGGAGAGAGGCATATAAATACATTATTACAGTGAAATCATTGCTATTAAGGAAAAAAACATTACTAGTAATGTGGGAACACAAAGCTGCCAGGGTAAGTCAGGAAAGACTGCCTGGAAGAGGTGACATTTGAATCCACAACAGACTCTTATGTAACTATGCCATCCACAGGCTCTCGCACTAACTGTGGAAGCTTGAGTCTGCTAAATTTTGTCTGTACAAAATGACATTGTTTTTATTTTTAGTAAAAAGCTTTTACAAAGGAAGAGGAGTTAATTGAATGTACTTCTTCACTCTCTCTAAAGCATTCTTGCATATACCTCCATATAGCTAAGTGATCAGGGTCAGTTAATTTTTCAGTCATTTTTGAAATAAAATCTAAAATGCCCTCTGTGCAATATGGAAAAGGTTCTTGACAAGGAAAGTAAATAACTTAAAGAATCTGCTTAAGTGGAATGCTTCTTTCTGTAGGATCCACATTGGGCTCTTGAAAGAGATTCTGATAAAACCGTTTAATGCATTGTTCACGAGTCTTTTTATTTTTTTTATGAAGCTTTTTGCATCGCCATGATGAAGCATTCTCCACGGAGCCCCTCAAAAACAATGGCAGAGGAAGTCCCCTGGCCTTTTATCATGTGCAGAATGTAAGTGACATGGACCTTTTTGCCAAACATATGTTTTTCTGGTACCTTGGCTTTCTCAGCCCGGGAAGGGTGATAAGAAGAGGTACAAGTCACTGGCTGTGCAGGGGGAGAGTAGACAATAGAGGGCGTGGCTAGAGTGGTGAGGTCATCCACAGCGGCCTGAGCAGCAAGCCTTCTTGTCTGTGTTACAGTGGGCCTAGTGAATGTGGGTTCGTCTGCCAATAAAATCTTCCATCAGTTTGAATGCAATGAGTTGTTTTAGTGTTTCTGTCCTAGAAAAATAAGCATGCTTAATAAGAGTTTTATTAAAGTGAATGCATTGTCCTTTAAACCCTAAGATACTTATGTTGCTCGATTGCAAATAACATAAAAAATATCAAATACCTTCTGTAGCTAAATTAAGATTTAGATCTGTTTTCCTTGCAACTGATAGTATAATTAACACATTAATGCCCTTTACAACTGTATTCCTACGTGGAGTAAGAAAACAGACCCTTCCCTCTCTTACGTGAAATTTCATTCAAACTCTATTCCAAAGTCATTATCCTCATCACAATAGCTAATATTCACTGAGAGTTTATTTTGTGTTAGTCACTGTTCTGAGAGTTTTTGTGTAATTTAATCTTTACCTTTATACCATAGATTAAGATAATCCCTGTGTTAGCTGAGATGACTGAAGCATAGAGCAATTAAAGTCACTCATCAGGCTGGGCGCAGTGGCTCATACCTGTCCCGGCACTCTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAATCCCATCTGAGACACGAGAATTGCTTGAACCCAGGATGGGGGGGTTGCAGTGAGTTGAGATTGTGCCACTGCACTCCAGCCTGGGCAAGAAAGCGAGACTCCCATCTCAAAAAAAATAAAAAAGTAATAATAAAAATAAAGTTACTCATCAGTGTTACAAGAGGCAGAGATAGGACTTAAGCTCAGAGAAATTTAGCTCTGGTATTCAGGATATTCACTACTACATGAAACTGTCTCTCATTCTCTTGCTAACCATGTCTGCTCTCTAAAGTAAGAGAGGAAAGGAGAACTTCAAAGATGGAACAAGCAAACACAAAATATGCCATCTTCTTTTTCATGTTGGTATAAATATAAGCAAGCATGTATCTGATAAACTTTGATCAGCTGCTGTGCACAAGGATTGTGCCTGACAACTGGGGAATGCAGATGAATCTCAGATGCTCCCAGTGAGCTTCGAATTACGATAGGGGAAATAAAATGCATACATAAACACCAGTCATGCAAAGATGAACATGAGAAAATATTCACTAAATGCAGTGGGAGTGGAGAAAGGGAAAGTTATTTCTATTAATGGAAAGCTATTTTAAGTTACTTTTTGTTGGGGAGGATAGTTGGGTGGAGAAAGGGGATAGGAAGCTCCCTGAAGGATGTAGTATAAGCAAGAAAAGGTGTGTCAAACTTGGCATTGTGCCTGGCACATAGGCCATAGTCAGTACATGCATGGATGTGCTGGAAGGGCCTTCCAGGCAGGGTTGCAGCCTGGGCCAGTCCTTGGCACAGCTGAGGAGAGAGCAGGTGAAAGGAGCAGCAGGTGAGTGAGTGAGCCAGAATAGTAAGTGTGGGAAGGACAACAGGGGCCAAGATCAGTTGAGGCAAAGTATGGAAGATCTTGAATACCTGAAGCTGGGAAAAGTTACTTTAGAATTAAAAACAACATAGGGGATCCCCTGTTTTTTGTTGCAAGAGTCCTGCATAGTAAAATACCCAGCAGATACTGGACACTCAGCAGCAGTAAAATTGGGCCAGGCATAGTGGCTCATGCCTGTAATCCAGCACTTTGGGAGCTGAGGCAGAAGGATCAGTTCAGCACATGAGTTCAAGACCAGTCTGGGAAACATAGTGAGATACTGTC
|
TGTCCTGGAATGCAACAGGGTTCCCTGGCAGGAGGAGCATGCTGCACATCCTGCTGCAGGGCTCTGCTGTGAGCGGTCCCCCTTTACCAGGAATGTAGGGTCTGATCACATAAGCCTGTTGATGAGTCTTTCTAGTCCTCTTCATGTTGAAATGTCTTATTAATAAGCCTGAAAGCAATGACTTATCTAGCTAGCAATTACGCCTATTTAATACTCGGGAAAAGGAAAATTTAAACAATGTAAAGAAGGATAAATTCTACATCAACTGAAAAAAGCTAGTATGTAGGGAAGATGTGATACCTCTCATTTCTCATCTACATAGGACTTGCTCTTTCCCGCGGCCCTCTCAAACCCTGTGCTCTGGATGCTTTCTTCTCAAGACTGCCCCAGGAAAACATTTTTTTGTGAATCTTCAGTTTTAATACCTCCAAACTTCAATTTGTCTTTTCAGTACTTGGAAAGGGCCACAGTACAAGAGACTGAAGTGTGACCCCTCCATACCTACCGCCCTCAGTTTGCCACTGGTGCCACCAAGAGGCTGCTTTGGGTTCTGCCATCCCTCTCCCCTCAGAATGTGCCTTGGCCGTCCCATGGGTCCTAGTGCAGTTTATAAAGCTTTTGTATAGGTTTTATCACAGAAAATTGAGTCAAATGTGATTTAAATTAAATGTGATCACTATATAGTAAGCCACTAATATCATTTGCTACAAGTCATAGTTGTTGGAATATTACCCATTGAGCATTGATTTCACCTATTTAATGTGTTTTCACTCATACCCTCAAACTTAGGGCAGGATAGTGTTCACCAGATGAATCTGTTTTTTGGAACTGTTGCTATTATTCTAATCAGGCAACTGATACGTTTTATGGAAAACATCTATTTGGTTAACTGATGTCTGAAGTGACAATAATAGTGAGTTGACCTTTGTCCTACAATCTCCTAAAAAGAGCAGCATCTCTACCTGGTGTTAGCTCTGGGGAAAAGGGCATGTTGCTTCTGTTGAAAGCAGCCTCAAAGGCGTCCTGTGTTTTTATAGTCGCTCCTCTGGCCTGTGCCGGGAAGGTATGGCTGCAGAGCACTGTGAATGAGTTCACCTGTCGTCAGGGAACCCCAGGAATGCTGCGGTGCCAGCAATACAGGAATCAGGGATTTGGAGCACTTGGCAAAAGCATGCTAGTGTTCTCAGACGGGTGAACTAATTTGGAAGACAACAAGTTCATATTACCAGTCTGTCTGTCCCCCCAGTTGAAAATAGTTTCTTTTTCTCCATTTTTTCTTGATGGAAGGGGTGTCCTTCTGATGGATTTTTCTATCTGGCAGTAAATCTTTGTGTTGGGTCCTCTTTAACTGTGCAGTTCTTTTTATTTCAGACTAATAATAGGGAGAGAGAGAGAGAGAACGATAACATCTCACTATCTGTGAAAATAACTAAATATAGCCCATTGTTTTAACAAATCTTTCCAGAGTATCTTCTGTGTGTCGAGACCTGTGGGAAAACGCTTGCTGTCTGGGGGAGAGAGGCATATAAATACATTATTACAGTGAAATCATTGCTATTAAGGAAAAAAACATTACTAGTAATGTGGGAACACAAAGCTGCCAGGGTAAGTCAGGAAAGACTGCCTGGAAGAGGTGACATTTGAATCCACAACAGACTCTTATGTAACTATGCCATCCACAGGCTCTCGCACTAACTGTGGAAGCTTGAGTCTGCTAAATTTTGTCTGTACAAAATGACATTGTTTTTATTTTTAGTAAAAAGCTTTTACAAAGGAAGAGGAGTTAATTGAATGTACTTCTTCACTCTCTCTAAAGCATTCTTGCATATACCTCCATATAGCTAAGTGATCAGGGTCAGTTAATTTTTCAGTCATTTTTGAAATAAAATCTAAAATGCCCTCTGTGCAATATGGAAAAGGTTCTTGACAAGGAAAGTAAATAACTTAAAGAATCTGCTTAAGTGGAATGCTTCTTTCTGTAGGATCCACATTGGGCTCTTGAAAGAGATTCTGATAAAACCGTTTAATGCATTGTTCACGAGTCTTTTTTTTTTTTTATGAAGCTTTTTGCATCGCCATGATGAAGCATTCTCCACGGAGCCCCTCAAAAACAATGGCAGAGGAAGTCCCCTGGCCTTTTATCATGTGCAGAATGTAAGTGACATGGACCTTTTTGCCAAACATATGTTTTTCTGGTACCTTGGCTTTCTCAGCCCGGGAAGGGTGATAAGAAGAGGTACAAGTCACTGGCTGTGCAGGGGGAGAGTAGACAATAGAGGGCGTGGCTAGAGTGGTGAGGTCATCCACAGCGGCCTGAGCAGCAAGCCTTCTTGTCTGTGTTACAGTGGGCCTAGTGAATGTGGGTTCGTCTGCCAATAAAATCTTCCATCAGTTTGAATGCAATGAGTTGTTTTAGTGTTTCTGTCCTAGAAAAATAAGCATGCTTAATAAGAGTTTTATTAAAGTGAATGCATTGTCCTTTAAACCCTAAGATACTTATGTTGCTCGATTGCAAATAACATAAAAAATATCAAATACCTTCTGTAGCTAAATTAAGATTTAGATCTGTTTTCCTTGCAACTGATAGTATAATTAACACATTAATGCCCTTTACAACTGTATTCCTACGTGGAGTAAGAAAACAGACCCTTCCCTCTCTTACGTGAAATTTCATTCAAACTCTATTCCAAAGTCATTATCCTCATCACAATAGCTAATATTCACTGAGAGTTTATTTTGTGTTAGTCACTGTTCTGAGAGTTTTTGTGTAATTTAATCTTTACCTTTATACCATAGATTAAGATAATCCCTGTGTTAGCTGAGATGACTGAAGCATAGAGCAATTAAAGTCACTCATCAGGCTGGGCGCAGTGGCTCATACCTGTCCCGGCACTCTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAATCCCATCTGAGACACGAGAATTGCTTGAACCCAGGATGGGGGGGTTGCAGTGAGTTGAGATTGTGCCACTGCACTCCAGCCTGGGCAAGAAAGCGAGACTCCCATCTCAAAAAAAATAAAAAAGTAATAATAAAAATAAAGTTACTCATCAGTGTTACAAGAGGCAGAGATAGGACTTAAGCTCAGAGAAATTTAGCTCTGGTATTCAGGATATTCACTACTACATGAAACTGTCTCTCATTCTCTTGCTAACCATGTCTGCTCTCTAAAGTAAGAGAGGAAAGGAGAACTTCAAAGATGGAACAAGCAAACACAAAATATGCCATCTTCTTTTTCATGTTGGTATAAATATAAGCAAGCATGTATCTGATAAACTTTGATCAGCTGCTGTGCACAAGGATTGTGCCTGACAACTGGGGAATGCAGATGAATCTCAGATGCTCCCAGTGAGCTTCGAATTACGATAGGGGAAATAAAATGCATACATAAACACCAGTCATGCAAAGATGAACATGAGAAAATATTCACTAAATGCAGTGGGAGTGGAGAAAGGGAAAGTTATTTCTATTAATGGAAAGCTATTTTAAGTTACTTTTTGTTGGGGAGGATAGTTGGGTGGAGAAAGGGGATAGGAAGCTCCCTGAAGGATGTAGTATAAGCAAGAAAAGGTGTGTCAAACTTGGCATTGTGCCTGGCACATAGGCCATAGTCAGTACATGCATGGATGTGCTGGAAGGGCCTTCCAGGCAGGGTTGCAGCCTGGGCCAGTCCTTGGCACAGCTGAGGAGAGAGCAGGTGAAAGGAGCAGCAGGTGAGTGAGTGAGCCAGAATAGTAAGTGTGGGAAGGACAACAGGGGCCAAGATCAGTTGAGGCAAAGTATGGAAGATCTTGAATACCTGAAGCTGGGAAAAGTTACTTTAGAATTAAAAACAACATAGGGGATCCCCTGTTTTTTGTTGCAAGAGTCCTGCATAGTAAAATACCCAGCAGATACTGGACACTCAGCAGCAGTAAAATTGGGCCAGGCATAGTGGCTCATGCCTGTAATCCAGCACTTTGGGAGCTGAGGCAGAAGGATCAGTTCAGCACATGAGTTCAAGACCAGTCTGGGAAACATAGTGAGATACTGTCN
|
benign
| 2,211 |
Gene KIF1B (kinesin family member 1B) variant at chromosome 1, position 10375383—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
AGTAATTCTCGTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGGGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTAACTTGATTTCAAAAAAAAAAAAGAATGAAGTATGAGAAAAAGTTAAAATGGGCTTTTTAGATTTAGTGAGATACAATGCTATGTTACTCTACAAAGATATCTAGCAATACAGAGTATAGGAATTTATTTCTCACACAGTAGTCAAGAGGGCTGGTCCAGGTCCAGGTCAGTGGTGCAGGTCTTCTCTGCACAGCCGTTCAGGAACCCTGGGTCTTCCCATTTGTTTGCTTTTTCTGCCATTTTCTAAGGCAGTGGGCCTCTGAGACTTCAGTGTACATCATCATCCCCTGGGAGGCTTGTTGAAGCCCCCATGGCTCAACCCCACCCAAAGTTTCTCGTTCCGTAGGTCTGGCTTGGAGTCTAAAAATTTGAGTTTTTGAACAGTTTCCCAGGTGAAGCTGATGCTGCTGGCTGGGAGCACACTTTGAGAAACATCGCTTTTGGTGTGGCCATGGGACTAAAAAGAAACATATAAAGGAGTAGAGTTCCTATTCCAGATAATGTGTTCAGAGGGCTTTAATATAGGCAGAGAGATTGTGTGACCCAGTGGCCATCAATGATCAATTTCCTTTCATAACTTCAGAAGGATGACACCAGTTGAACGCAGAGTTAACTTTCTGAAGCCAGCTTGTCTCCTCAGCTGAGCTCTCTGCAACTCAAGTTTGCAGCTGGGGTTTAGGGAGGGCCATTGTGTTCCTCCCAGTGAAACAGTACTCAGTATGCCTTGATTGTAACTGATTCTCTTGTTACCCTTTTCTTTCTAATCTCTCTATTTTAAAGGACCCCAGAAGCCAATTCCCGGGCCTCTAGTCCCTGCCCAGAATTTGAACAGTTTCAGATTGTCCCAGCTGTGGAAACACCATATTTGGCCCGAGCAGGAAAAAACGAATTTCTCAATCTTGTTCCAGATATTGAAGAAATTAGACCAAGGTGAGTACTATATTGAGCAGGAATGCCAGCTATAAAAAACAAATCCACAGGAAGAAGTGACTGGCCAGCTCTTCCCTGTGAGGTCTGTACTGTAGTCTGATGCAATCTGTACTGTAGTCTGATGCAAGTTGAGTCTGGGGTGAGAGGGCCAGCCTGGGTTTCTCCAGTTGGGTCTCATAATGCATCTGCACCCTGGCGCAGCATGTTGCCATGGCACGGTTTCGCTTTTGCCGTATTACTTTGGCAGATAAGATTCTAGGCCAAATAGGTCATTTGCCTGTTTCATCGAATCTAAGGACTTGGCCTAAGTGTGGCGTATTTTGATGGTCCTCAGCACGATTATTTTCTTTTTGTGAGAAACTAACTTTTGTCATATTGTCGTTTTTAGCTCAGTGGTCTCTAAGAAAGGATACCTTCATTTCAAGGAGCCTCTTTACAGTAACTGGGCTAAACATTTTGTTGTCGTCCGTCGGCCTTATGTCTTCATCTATAACAGTGACAAAGACCCTGTGGAGCGTGGAATCATTAACCTGTCCACAGCACAGGTGGAGTACAGTGAGGACCAGCAGGCCATGGTGAAGGTCCGTCCTGCCCTGCCTTGGTTTCTTATTGCCACGTGTGCCCTTCTCTTTTGATTTCTGCACTCTCTGTTACGTGGTGTGAAATTTCCCTATTCTCTCTGGTTTTGAACTTCCTTTGTGAAGTGCTATATGCCTTGGGAATATGGCAAGGCAGTCCCCATTGCTGTCTCTGTAGTAACTTTCTTGTCTACCTGCATTTTTCTTTCAGACACCAAACACCTTTGCTGTCTGCACAAAGCACCGTGGGGTCCTTTTGCAGGCCCTCAATGACAAAGACATGAACGACTGGTTGTATGCCTTCAACCCACTTCTAGCTGGCACAATACGGTAAGAAGTTTTGTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTTTTTCTCCCTGAAGTGCAGTGGCTTGGTCTTGGCTCACTGCAACCTCCGCCCCCTGGTTCAAGCGATTCTCCTGACTCAGCCTCCCCAGTAGCTGAGACTACAGGCACGTGCCACCATTGCCTGGCTAATTTTCGTATTTTTTGTAGAGACGGGGTTTTACCACAATGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGCACCCAGCCTAGAAGTTGTTCTGTGTTTTCTTTCTCTCTTTGGCTTTTGGCTTCAGGAATATCAGGATAAATAGGAAAGGAAGAATTTTTCTTTTCTTTTTTCTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTGTGTGGCCCAGGCTGGAGTGCAGTGGCATGATATCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGTCTCCTGAGTAGCTAGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCTTGAAAGGAAGTATTTTTCAAAATAAATTTAAAAGAGAGGAAGGACAGGAGTGTAAATTGGTTGTGGGGTGGTAATGAGGCCTCTGCATCTTGTAAGGCATTGTCATGTTCTGAACCACCAGGGATACTCTGGTCACACATGTGCACCAATTATTTTCCTTCTTTGTCTTTTTGTTCTCAAGAGTTCTAAAGATGGGGCTCAGGGGAGAGAGTAAAGGGAGGACAGTGAGAACCTTAATGGTCTCCCAACCTCCAGCCCTGTGATTCAGCCTCACGTTCTGAGGGCTTGTGTCACAGGGTCCCGGAGTAGACGGCTTAGAGGACTAGGCCTGCGGTGCCAAATAGGAAGATGCTCCAGGAGGGAGCCTCAGAGGGAGAGGACTGTGAGGGGACAAGACTTGTACCCAGACTTCTAATCCTACCTCCCCGTTTGTCCCCCATAGGTCAAAGCTTTCCCGCAGATGCCCGAGCCAGTCGAAATACTAAGTGACTCTGCCGAGTGCCCTCACTCGCCTTCGAGAGATAAAGAAAGCGTTACCTCTCATTTCTCTTTGTGATTCTTGACGGTGACTCTTGTATGTAATCCTGTGGCTTAACTACTTCTCCCTCCTTGTCCAGCACTTTTCTAGCTCTCCCGTTCCCCATCTCCATTGCTCTGTACTCTTTTCTTTTTTCTTGTGCTGAGAATCTCGTTAGTAGCATGTGGCCTAACAAAAGGAAAAAATGTTTTTAAACACACACACACACACACACACACACACACACATACACAGACAAAAACACAAAAACTCTGAGGGGATCTGGTGAATCTCCAAATTATTGTGGGTGTACTTTGGCTTCCTTTTGTATGATAGGTCCCCATCATGACCACCTCTGATGTCTGTGCTGCTGTCACCAGGCACCTTTGTTTTTCAAGACAACATACTTTTTTTTTCTTTTCTCTGTTTGTGATATCACTTTAATTTTTCTTGGGTGGCTTAGAGACTAAGGGAGGAGACATCTGGCCTTTTTAGAACCTGAGAGGAAAAAAAGAGTCTTTTTTTCCCCTCTGTCTCTTTTTGCCATGGCTAATCCCTGCATTTCCATTCAGGGAAAAGGTGGTAGTGAGCATAGAACTGCAACAGTTATATTCTGAGTCAAAGTTGGGGCTTTTTACGGCATAATTATGGAATTTTTATTTACTGGTAGAGAGGAGACGAGAGGCTTTTTCAGTGGGCCTGGGACAGTGGCTGCTCTTGACTTTGTGTGAAGGGAAATGCCAAGGATGCTTCTGGTGGACTTCAGGGGACCCCAGGGTTTGGCCGTGGGCCGTGATGGCAGCAGGCGGTG
|
AGTAATTCTCGTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGGGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTAACTTGATTTCAAAAAAAAAAAAGAATGAAGTATGAGAAAAAGTTAAAATGGGCTTTTTAGATTTAGTGAGATACAATGCTATGTTACTCTACAAAGATATCTAGCAATACAGAGTATAGGAATTTATTTCTCACACAGTAGTCAAGAGGGCTGGTCCAGGTCCAGGTCAGTGGTGCAGGTCTTCTCTGCACAGCCGTTCAGGAACCCTGGGTCTTCCCATTTGTTTGCTTTTTCTGCCATTTTCTAAGGCAGTGGGCCTCTGAGACTTCAGTGTACATCATCATCCCCTGGGAGGCTTGTTGAAGCCCCCATGGCTCAACCCCACCCAAAGTTTCTCGTTCCGTAGGTCTGGCTTGGAGTCTAAAAATTTGAGTTTTTGAACAGTTTCCCAGGTGAAGCTGATGCTGCTGGCTGGGAGCACACTTTGAGAAACATCGCTTTTGGTGTGGCCATGGGACTAAAAAGAAACATATAAAGGAGTAGAGTTCCTATTCCAGATAATGTGTTCAGAGGGCTTTAATATAGGCAGAGAGATTGTGTGACCCAGTGGCCATCAATGATCAATTTCCTTTCATAACTTCAGAAGGATGACACCAGTTGAACGCAGAGTTAACTTTCTGAAGCCAGCTTGTCTCCTCAGCTGAGCTCTCTGCAACTCAAGTTTGCAGCTGGGGTTTAGGGAGGGCCATTGTGTTCCTCCCAGTGAAACAGTACTCAGTATGCCTTGATTGTAACTGATTCTCTTGTTACCCTTTTCTTTCTAATCTCTCTATTTTAAAGGACCCCAGAAGCCAATTCCCGGGCCTCTAGTCCCTGCCCAGAATTTGAACAGTTTCAGATTGTCCCAGCTGTGGAAACACCATATTTGGCCCGAGCAGGAAAAAACGAATTTCTCAATCTTGTTCCAGATATTGAAGAAATTAGACCAAGGTGAGTACTATATTGAGCAGGAATGCCAGCTATAAAAAACAAATCCACAGGAAGAAGTGACTGGCCAGCTCTTCCCTGTGAGGTCTGTACTGTAGTCTGATGCAATCTGTACTGTAGTCTGATGCAAGTTGAGTCTGGGGTGAGAGGGCCAGCCTGGGTTTCTCCAGTTGGGTCTCATAATGCATCTGCACCCTGGCGCAGCATGTTGCCATGGCACGGTTTCGCTTTTGCCGTATTACTTTGGCAGATAAGATTCTAGGCCAAATAGGTCATTTGCCTGTTTCATCGAATCTAAGGACTTGGCCTAAGTGTGGCGTATTTTGATGGTCCTCAGCACGATTATTTTCTTTTTGTGAGAAACTAACTTTTGTCATATTGTCGTTTTTAGCTCAGTGGTCTCTAAGAAAGGATACCTTCATTTCAAGGAGCCTCTTTACAGTAACTGGGCTAAACATTTTGTTGTCGTCCGTCGGCCTTATGTCTTCATCTATAACAGTGACAAAGACCCTGTGGAGCGTGGAATCATTAACCTGTCCACAGCACAGGTGGAGTACAGTGAGGACCAGCAGGCCATGGTGAAGGTCCGTCCTGCCCTGCCTTGGTTTCTTATTGCCACGTGTGCCCTTCTCTTTTGATTTCTGCACTCTCTGTTACGTGGTGTGAAATTTCCCTATTCTCTCTGGTTTTGAACTTCCTTTGTGAAGTGCTATATGCCTTGGGAATATGGCAAGGCAGTCCCCATTGCTGTCTCTGTAGTAACTTTCTTGTCTACCTGCATTTTTCTTTCAGACACCAAACACCTTTGCTGTCTGCACAAAGCACCGTGGGGTCCTTTTGCAGGCCCTCAATGACAAAGACATGAACGACTGGTTGTATGCCTTCAACCCACTTCTAGCTGGCACAATACGGTAAGAAGTTTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTTTTTCTCCCTGAAGTGCAGTGGCTTGGTCTTGGCTCACTGCAACCTCCGCCCCCTGGTTCAAGCGATTCTCCTGACTCAGCCTCCCCAGTAGCTGAGACTACAGGCACGTGCCACCATTGCCTGGCTAATTTTCGTATTTTTTGTAGAGACGGGGTTTTACCACAATGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGCACCCAGCCTAGAAGTTGTTCTGTGTTTTCTTTCTCTCTTTGGCTTTTGGCTTCAGGAATATCAGGATAAATAGGAAAGGAAGAATTTTTCTTTTCTTTTTTCTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTGTGTGGCCCAGGCTGGAGTGCAGTGGCATGATATCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGTCTCCTGAGTAGCTAGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCTTGAAAGGAAGTATTTTTCAAAATAAATTTAAAAGAGAGGAAGGACAGGAGTGTAAATTGGTTGTGGGGTGGTAATGAGGCCTCTGCATCTTGTAAGGCATTGTCATGTTCTGAACCACCAGGGATACTCTGGTCACACATGTGCACCAATTATTTTCCTTCTTTGTCTTTTTGTTCTCAAGAGTTCTAAAGATGGGGCTCAGGGGAGAGAGTAAAGGGAGGACAGTGAGAACCTTAATGGTCTCCCAACCTCCAGCCCTGTGATTCAGCCTCACGTTCTGAGGGCTTGTGTCACAGGGTCCCGGAGTAGACGGCTTAGAGGACTAGGCCTGCGGTGCCAAATAGGAAGATGCTCCAGGAGGGAGCCTCAGAGGGAGAGGACTGTGAGGGGACAAGACTTGTACCCAGACTTCTAATCCTACCTCCCCGTTTGTCCCCCATAGGTCAAAGCTTTCCCGCAGATGCCCGAGCCAGTCGAAATACTAAGTGACTCTGCCGAGTGCCCTCACTCGCCTTCGAGAGATAAAGAAAGCGTTACCTCTCATTTCTCTTTGTGATTCTTGACGGTGACTCTTGTATGTAATCCTGTGGCTTAACTACTTCTCCCTCCTTGTCCAGCACTTTTCTAGCTCTCCCGTTCCCCATCTCCATTGCTCTGTACTCTTTTCTTTTTTCTTGTGCTGAGAATCTCGTTAGTAGCATGTGGCCTAACAAAAGGAAAAAATGTTTTTAAACACACACACACACACACACACACACACACACATACACAGACAAAAACACAAAAACTCTGAGGGGATCTGGTGAATCTCCAAATTATTGTGGGTGTACTTTGGCTTCCTTTTGTATGATAGGTCCCCATCATGACCACCTCTGATGTCTGTGCTGCTGTCACCAGGCACCTTTGTTTTTCAAGACAACATACTTTTTTTTTCTTTTCTCTGTTTGTGATATCACTTTAATTTTTCTTGGGTGGCTTAGAGACTAAGGGAGGAGACATCTGGCCTTTTTAGAACCTGAGAGGAAAAAAAGAGTCTTTTTTTCCCCTCTGTCTCTTTTTGCCATGGCTAATCCCTGCATTTCCATTCAGGGAAAAGGTGGTAGTGAGCATAGAACTGCAACAGTTATATTCTGAGTCAAAGTTGGGGCTTTTTACGGCATAATTATGGAATTTTTATTTACTGGTAGAGAGGAGACGAGAGGCTTTTTCAGTGGGCCTGGGACAGTGGCTGCTCTTGACTTTGTGTGAAGGGAAATGCCAAGGATGCTTCTGGTGGACTTCAGGGGACCCCAGGGTTTGGCCGTGGGCCGTGATGGCAGCAGGCGGTGNNN
|
benign
| 2,339 |
Regarding the variant at chromosome 1 and position 10376834, affecting gene KIF1B (kinesin family member 1B): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
TTGATGGTCCTCAGCACGATTATTTTCTTTTTGTGAGAAACTAACTTTTGTCATATTGTCGTTTTTAGCTCAGTGGTCTCTAAGAAAGGATACCTTCATTTCAAGGAGCCTCTTTACAGTAACTGGGCTAAACATTTTGTTGTCGTCCGTCGGCCTTATGTCTTCATCTATAACAGTGACAAAGACCCTGTGGAGCGTGGAATCATTAACCTGTCCACAGCACAGGTGGAGTACAGTGAGGACCAGCAGGCCATGGTGAAGGTCCGTCCTGCCCTGCCTTGGTTTCTTATTGCCACGTGTGCCCTTCTCTTTTGATTTCTGCACTCTCTGTTACGTGGTGTGAAATTTCCCTATTCTCTCTGGTTTTGAACTTCCTTTGTGAAGTGCTATATGCCTTGGGAATATGGCAAGGCAGTCCCCATTGCTGTCTCTGTAGTAACTTTCTTGTCTACCTGCATTTTTCTTTCAGACACCAAACACCTTTGCTGTCTGCACAAAGCACCGTGGGGTCCTTTTGCAGGCCCTCAATGACAAAGACATGAACGACTGGTTGTATGCCTTCAACCCACTTCTAGCTGGCACAATACGGTAAGAAGTTTTGTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTTTTTCTCCCTGAAGTGCAGTGGCTTGGTCTTGGCTCACTGCAACCTCCGCCCCCTGGTTCAAGCGATTCTCCTGACTCAGCCTCCCCAGTAGCTGAGACTACAGGCACGTGCCACCATTGCCTGGCTAATTTTCGTATTTTTTGTAGAGACGGGGTTTTACCACAATGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGCACCCAGCCTAGAAGTTGTTCTGTGTTTTCTTTCTCTCTTTGGCTTTTGGCTTCAGGAATATCAGGATAAATAGGAAAGGAAGAATTTTTCTTTTCTTTTTTCTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTGTGTGGCCCAGGCTGGAGTGCAGTGGCATGATATCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGTCTCCTGAGTAGCTAGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCTTGAAAGGAAGTATTTTTCAAAATAAATTTAAAAGAGAGGAAGGACAGGAGTGTAAATTGGTTGTGGGGTGGTAATGAGGCCTCTGCATCTTGTAAGGCATTGTCATGTTCTGAACCACCAGGGATACTCTGGTCACACATGTGCACCAATTATTTTCCTTCTTTGTCTTTTTGTTCTCAAGAGTTCTAAAGATGGGGCTCAGGGGAGAGAGTAAAGGGAGGACAGTGAGAACCTTAATGGTCTCCCAACCTCCAGCCCTGTGATTCAGCCTCACGTTCTGAGGGCTTGTGTCACAGGGTCCCGGAGTAGACGGCTTAGAGGACTAGGCCTGCGGTGCCAAATAGGAAGATGCTCCAGGAGGGAGCCTCAGAGGGAGAGGACTGTGAGGGGACAAGACTTGTACCCAGACTTCTAATCCTACCTCCCCGTTTGTCCCCCATAGGTCAAAGCTTTCCCGCAGATGCCCGAGCCAGTCGAAATACTAAGTGACTCTGCCGAGTGCCCTCACTCGCCTTCGAGAGATAAAGAAAGCGTTACCTCTCATTTCTCTTTGTGATTCTTGACGGTGACTCTTGTATGTAATCCTGTGGCTTAACTACTTCTCCCTCCTTGTCCAGCACTTTTCTAGCTCTCCCGTTCCCCATCTCCATTGCTCTGTACTCTTTTCTTTTTTCTTGTGCTGAGAATCTCGTTAGTAGCATGTGGCCTAACAAAAGGAAAAAATGTTTTTAAACACACACACACACACACACACACACACACACATACACAGACAAAAACACAAAAACTCTGAGGGGATCTGGTGAATCTCCAAATTATTGTGGGTGTACTTTGGCTTCCTTTTGTATGATAGGTCCCCATCATGACCACCTCTGATGTCTGTGCTGCTGTCACCAGGCACCTTTGTTTTTCAAGACAACATACTTTTTTTTTCTTTTCTCTGTTTGTGATATCACTTTAATTTTTCTTGGGTGGCTTAGAGACTAAGGGAGGAGACATCTGGCCTTTTTAGAACCTGAGAGGAAAAAAAGAGTCTTTTTTTCCCCTCTGTCTCTTTTTGCCATGGCTAATCCCTGCATTTCCATTCAGGGAAAAGGTGGTAGTGAGCATAGAACTGCAACAGTTATATTCTGAGTCAAAGTTGGGGCTTTTTACGGCATAATTATGGAATTTTTATTTACTGGTAGAGAGGAGACGAGAGGCTTTTTCAGTGGGCCTGGGACAGTGGCTGCTCTTGACTTTGTGTGAAGGGAAATGCCAAGGATGCTTCTGGTGGACTTCAGGGGACCCCAGGGTTTGGCCGTGGGCCGTGATGGCAGCAGGCGGTGGGATGCTTGTAGCTCCTCACAGCAGGATTCCTGCCCACTGTTTTTTCTCTGTTGGGAGGGAAGCTCTTTTCTAGGAGTGTCTCAGTTCTGCTTTTGGCATTAGTGATGGTGGTGGTACAGTTGGAATTAGTGCCATGTCATACACAAATGTTCCACAAGGCGGGAGTGTTTCACTTTCTGGTGATAAACTTGATGGTCATTGTTATGATTAAGATAATGCCGGGCAGGCCGGGCACAGTGGCTCACGCCTGTAATCCAAGCACTTGGGGAGGCCGAGGCGGGCAGATCACGAGATCAGGAGTTCAAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTACTAAAAATACAAAATTAGTCGGGTATGGTGGCACATGCCTGTAATTCCAGCTGCTTGGGAGCCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCTATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAGAAAAAAAAAAAAATAATAATGCTGGGTAGTGACCTTGTGATTGTTACAGCTCCCTTTGATCAAAGAAATATAGCTTTCAGGCATAAACCTGGAAGTCTCCCTCTGAATCCAGCAGTTGTTTTCATTGATGCTTGTCAGGTTGAAGATGCTTTCAGTGATGCTCTCTATACTCATAAATAAGCAAATGTGGCAGGCTTTGCTTTCTGGATCCCAGGATTAAAACTAACCGTGACCACTACTCCAAACAAAACACAATATGCCTAGGGGCACGGATGAACGTCCAGGGAGCCCGGGCCCCAGGCTTTGTTGCGTGTTCCCTGCTCCTCTCCATCTGGTGTGGAAACACTGCCCAGGGAGAAAGGAGGAAGCTCACTGTGGACAGTCTTCTTTCCTTCTGACAGACCAGGTCATCTGGCTTCCGAGATCATCAGAGAAGATAAGTCTGTCTCTTTCAGCTGCCAGTAAGTTTTCCAGGATGAGAGGGGAAAAAGAAAGCCTCCAGTGACTTCAGTTGCTTTGCCAGTTGTCTTGGGATTGTTTTACACCATCCTTTACTTCCCTTGCTCAGACCTCTCTGTTTCACCATTGCTCAGGCATTCAGGAAAGTATCTGCTCACTCCCACTTGGTGAGTCCTCGGCCTTGAGGTTGCTGACTCTCAGGCGTTAGGCAGCTGGATGACTTCCCGCTTCACGCAGCAAAGGCCAGGGGCTTGCGCGCCTCTGCAGAGTTGTTGCTAGGGAGACTTGTGTCATCATCCACAACCTTGTTTCTCACTTCCTGGTTGGGCTCATCTCTGAAGAACAGGTCTCCCAGCTTCGCTCCTTATCACTGCATTGTGAAGAGGAGGAAAAGTGAATCACGGAGAGAGAAAGGAAAGGATAGAATCACAGGCTGCGTCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCGGATTTTTTT
|
TTGATGGTCCTCAGCACGATTATTTTCTTTTTGTGAGAAACTAACTTTTGTCATATTGTCGTTTTTAGCTCAGTGGTCTCTAAGAAAGGATACCTTCATTTCAAGGAGCCTCTTTACAGTAACTGGGCTAAACATTTTGTTGTCGTCCGTCGGCCTTATGTCTTCATCTATAACAGTGACAAAGACCCTGTGGAGCGTGGAATCATTAACCTGTCCACAGCACAGGTGGAGTACAGTGAGGACCAGCAGGCCATGGTGAAGGTCCGTCCTGCCCTGCCTTGGTTTCTTATTGCCACGTGTGCCCTTCTCTTTTGATTTCTGCACTCTCTGTTACGTGGTGTGAAATTTCCCTATTCTCTCTGGTTTTGAACTTCCTTTGTGAAGTGCTATATGCCTTGGGAATATGGCAAGGCAGTCCCCATTGCTGTCTCTGTAGTAACTTTCTTGTCTACCTGCATTTTTCTTTCAGACACCAAACACCTTTGCTGTCTGCACAAAGCACCGTGGGGTCCTTTTGCAGGCCCTCAATGACAAAGACATGAACGACTGGTTGTATGCCTTCAACCCACTTCTAGCTGGCACAATACGGTAAGAAGTTTTGTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTTTTTCTCCCTGAAGTGCAGTGGCTTGGTCTTGGCTCACTGCAACCTCCGCCCCCTGGTTCAAGCGATTCTCCTGACTCAGCCTCCCCAGTAGCTGAGACTACAGGCACGTGCCACCATTGCCTGGCTAATTTTCGTATTTTTTGTAGAGACGGGGTTTTACCACAATGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGCACCCAGCCTAGAAGTTGTTCTGTGTTTTCTTTCTCTCTTTGGCTTTTGGCTTCAGGAATATCAGGATAAATAGGAAAGGAAGAATTTTTCTTTTCTTTTTTCTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTGTGTGGCCCAGGCTGGAGTGCAGTGGCATGATATCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGTCTCCTGAGTAGCTAGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCTTGAAAGGAAGTATTTTTCAAAATAAATTTAAAAGAGAGGAAGGACAGGAGTGTAAATTGGTTGTGGGGTGGTAATGAGGCCTCTGCATCTTGTAAGGCATTGTCATGTTCTGAACCACCAGGGATACTCTGGTCACACATGTGCACCAATTATTTTCCTTCTTTGTCTTTTTGTTCTCAAGAGTTCTAAAGATGGGGCTCAGGGGAGAGAGTAAAGGGAGGACAGTGAGAACCTTAATGGTCTCCCAACCTCCAGCCCTGTGATTCAGCCTCACGTTCTGAGGGCTTGTGTCACAGGGTCCCGGAGTAGACGGCTTAGAGGACTAGGCCTGCGGTGCCAAATAGGAAGATGCTCCAGGAGGGAGCCTCAGAGGGAGAGGACTGTGAGGGGACAAGACTTGTACCCAGACTTCTAATCCTACCTCCCCGTTTGTCCCCCATAGGTCAAAGCTTTCCCGCAGATGCCCGAGCCAGTCGAAATACTAAGTGACTCTGCCGAGTGCCCTCACTCGCCTTCGAGAGATAAAGAAAGCGTTACCTCTCATTTCTCTTTGTGATTCTTGACGGTGACTCTTGTATGTAATCCTGTGGCTTAACTACTTCTCCCTCCTTGTCCAGCACTTTTCTAGCTCTCCCGTTCCCCATCTCCATTGCTCTGTACTCTTTTCTTTTTTCTTGTGCTGAGAATCTCGTTAGTAGCATGTGGCCTAACAAAAGGAAAAAATGTTTTTAAACACACACACACACACACACACACACACACATACACAGACAAAAACACAAAAACTCTGAGGGGATCTGGTGAATCTCCAAATTATTGTGGGTGTACTTTGGCTTCCTTTTGTATGATAGGTCCCCATCATGACCACCTCTGATGTCTGTGCTGCTGTCACCAGGCACCTTTGTTTTTCAAGACAACATACTTTTTTTTTCTTTTCTCTGTTTGTGATATCACTTTAATTTTTCTTGGGTGGCTTAGAGACTAAGGGAGGAGACATCTGGCCTTTTTAGAACCTGAGAGGAAAAAAAGAGTCTTTTTTTCCCCTCTGTCTCTTTTTGCCATGGCTAATCCCTGCATTTCCATTCAGGGAAAAGGTGGTAGTGAGCATAGAACTGCAACAGTTATATTCTGAGTCAAAGTTGGGGCTTTTTACGGCATAATTATGGAATTTTTATTTACTGGTAGAGAGGAGACGAGAGGCTTTTTCAGTGGGCCTGGGACAGTGGCTGCTCTTGACTTTGTGTGAAGGGAAATGCCAAGGATGCTTCTGGTGGACTTCAGGGGACCCCAGGGTTTGGCCGTGGGCCGTGATGGCAGCAGGCGGTGGGATGCTTGTAGCTCCTCACAGCAGGATTCCTGCCCACTGTTTTTTCTCTGTTGGGAGGGAAGCTCTTTTCTAGGAGTGTCTCAGTTCTGCTTTTGGCATTAGTGATGGTGGTGGTACAGTTGGAATTAGTGCCATGTCATACACAAATGTTCCACAAGGCGGGAGTGTTTCACTTTCTGGTGATAAACTTGATGGTCATTGTTATGATTAAGATAATGCCGGGCAGGCCGGGCACAGTGGCTCACGCCTGTAATCCAAGCACTTGGGGAGGCCGAGGCGGGCAGATCACGAGATCAGGAGTTCAAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTACTAAAAATACAAAATTAGTCGGGTATGGTGGCACATGCCTGTAATTCCAGCTGCTTGGGAGCCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCTATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAGAAAAAAAAAAAAATAATAATGCTGGGTAGTGACCTTGTGATTGTTACAGCTCCCTTTGATCAAAGAAATATAGCTTTCAGGCATAAACCTGGAAGTCTCCCTCTGAATCCAGCAGTTGTTTTCATTGATGCTTGTCAGGTTGAAGATGCTTTCAGTGATGCTCTCTATACTCATAAATAAGCAAATGTGGCAGGCTTTGCTTTCTGGATCCCAGGATTAAAACTAACCGTGACCACTACTCCAAACAAAACACAATATGCCTAGGGGCACGGATGAACGTCCAGGGAGCCCGGGCCCCAGGCTTTGTTGCGTGTTCCCTGCTCCTCTCCATCTGGTGTGGAAACACTGCCCAGGGAGAAAGGAGGAAGCTCACTGTGGACAGTCTTCTTTCCTTCTGACAGACCAGGTCATCTGGCTTCCGAGATCATCAGAGAAGATAAGTCTGTCTCTTTCAGCTGCCAGTAAGTTTTCCAGGATGAGAGGGGAAAAAGAAAGCCTCCAGTGACTTCAGTTGCTTTGCCAGTTGTCTTGGGATTGTTTTACACCATCCTTTACTTCCCTTGCTCAGACCTCTCTGTTTCACCATTGCTCAGGCATTCAGGAAAGTATCTGCTCACTCCCACTTGGTGAGTCCTCGGCCTTGAGGTTGCTGACTCTCAGGCGTTAGGCAGCTGGATGACTTCCCGCTTCACGCAGCAAAGGCCAGGGGCTTGCGCGCCTCTGCAGAGTTGTTGCTAGGGAGACTTGTGTCATCATCCACAACCTTGTTTCTCACTTCCTGGTTGGGCTCATCTCTGAAGAACAGGTCTCCCAGCTTCGCTCCTTATCACTGCATTGTGAAGAGGAGGAAAAGTGAATCACGGAGAGAGAAAGGAAAGGATAGAATCACAGGCTGCGTCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCGGATTTTTTTNN
|
benign
| 2,348 |
Regarding the variant at chromosome 1 and position 10639086, affecting gene CASZ1 (castor zinc finger 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
AGCAATGGCTTATAGTCCTAGTGTGCAATATGAAGTTTACAAAAGGCTAGACTCCGCACTGTCGGCATCTTCTTCTTTTCTTCTTTTTTTTTTTTAAGTTTGATTTTGCTACATTGAAAAAATGTTTGTGTGTGTGTGTTTTTTTTTCCTTTACAAAACTCCTTCCACAGACGCCCGGGGCCTGTGGCGGGTCACTGTCTGGGCAGATGCTCACAGCAGCACGTGGTGCCCACAGAGTTCAGGAGGCTCTGGTAGGGGCTGTTTTAGAAAATAACTGATTTCCTGTTGAATCAGGTACGCTCCGTGCGACCACTCCTCCCTCCCTGCTCCCTGTCCAGTTCGGGTGGTCCTGGCTTTCTGGCTGTGGGCAGCTGAGAGGACAAAAGAAAGGAAGAAAAAAGGGAAAAGTAAACCACTGCCCCCCAGTTGAGCCAGGTTCCTCCTGGAGACCTCTGGGGAGGAGGCTTCTGGATGACAGCCTCCCCGCCAGCCTTCCATTCCCTCCTAGGCCTGTTCTCTCCCGGTGGCCCAATCTGACACCAGCTGGTGGCCTGGAGTAGGGAAGGTGGGCAGGTGTGGCCTCGGGCAGCCTGCCCTCGCAGGGGACTCGGTCCCCGGGGACCTCAGAGCCACTGGCCAGGTGTGTGCCTGCCAGGTCAGGCCCTGGCCCGGGCTTCGATGGCATCATCATCTCCAGGAAGGGGGATGTTTTGCAAAGGGAACCCAATCTGGGTAGACTGCACCAGCGAAGAAGCATCCCAAACAAAGTAATAAAACAAACTGGAAAAAAAAAAAAGCCCTATAAAGCCACACGCATCACCAAGAGAGAACTCAAATGTTAAATTAACTACAAACTTGGATCAACAGTAATAGTCCTTTTTTCTTGTCTCTACAAAATTCAAGTTAAGAGTTGGAATCACGCAGCTCCCATCAGTGCTATTGTGAAGACAGACAGCCTCAAACAGTTAAGGCCTCTACAAAAACCCTGGACCAAATCCCACAGGATAAACGGGACTGAGCCTCCAACCTCAGGCCGGGCCCAGGCGGGTCTGCACTCTCACCACGCCTGCTTTCTTCCTTTTTGTTCTATGTAGAATAATAACCTTTACAGGAAAAATACTGTACAACTTTCTTGTATTTTTTTCCATTTTGAACATTAAAGCCAAAACCAGGCGCATCCTTCCTGTTTGCACCACCAGGGTGGCCGAGACCCCGCCCCGGCCCCCAGCGGGCTACTCTGGGTTTTGGACGCAGCCTCGGTTTCCCTGGGGCGGAGGCTGGGGCCAGGGAGTCGCCAAACAGACCCGACCCAGGCCTGGGGGAGCAGCCGGGCCCTGGGGTGGGGCTGAGCTGGAGCTCCGCGGCTGCTACTCCCGTGAGGCTTCCTCCACGGTCCCTGTAGTGTCACCCGTGCTGACTGCCTTCTGCCCGTCTCCCCCTGGGCAGGGGGGAGGATCCTAGCTGCATGAGGGAGGCCCCGCCAGCGGCTCCAGGAGCCACCCCGCCCTGGTGGCGCGCGGTGGGGGTCCCGGTGGCCCCCAGCGCCCGTCCCAGTCCTGAGCAATGGTCGCGGGGCCGAATCGGCCGCGGGGAGGGGCGCCGGGGCAGCGGCCGGGAGCTGCGCCGCATTCGCCCGGGACCCCTGCTCCTAGGTTCCCTACCCCGGGACAAGAGCACCTTCTGTTTCCCTGAAGAGACCCGGCCTCCCTAGAGCAGGGCCACCGCCGCCGCCTGTGTCCTCGGCCGCGGAGCACCAGAGGGGTCCCCGCCTCTGTCCTGAGACGGACTCGGGGTCCGGAAGCACCGGCGGGGCGCGGGGCTCTGCCCAGGGGCCGCTTCGCGCGGGGCGGCGCCGCTCCCGAGGCCGAGGCCGAGGCCGCCGCCAGGGCCACCCGCGGGCGCCGCTAGGGCGAGGAGGCTGCAGTGGGCGCGGGGCCGGGGGCGCCCAGGGCCGCCAGCGCCGCCAAGGCCGGGGTCCGCGCGCCCGCGCCCGCCGCCTCCGCCGCCGCCTCGGGCAGCGACTCCTCCGAGTCGGTGCGCAGGTCCTCGTCGTCGTCGTCCTCGTCGTCGTCCTCGTCGTCGTCGTCCTCGTCGTCGTCCTCGTCCTCGTCGTCTTCGGCCTCCTCCTCCGGCAGCTCCAGCTCCTCCTCCTCGTCCTCCTGCGAGGACTCCCCAGCTGCGGCGGCGGCGGCGGCGGCGCCCTCGCGCGGCCCGGGGGCGGCGGCGTCGGGCGGGCCGGGGTCGCCCGCGTCGCCCAGCGCCAGGCCCAGGCCGGCGGCCGCCGACTGCAGGAAGAGCAGCGAGCCCGGCTCGGCGCCCAGCGACAGGGAGCCGTCCAGACTGATGGGAGGCCCGGGCGCGGGGCCCTCTGCCGCGGGCTCGCCGCGCTCCTGCTTCTCGTGCTTGCGCTTGTGCGAGTCCATCTGCGACATGCCCACCACCGTGTGGCGGCAGCCCGGGAAGGTGCAGTGGAAGTGCGAGCACTTGAGCTTGTACTTGCAGTCGGGCACGGCGCAGTCGGCGCTGGAGCTGAACTGGCAGAAGCCCGCGGCGCTGATCACGTCCTGTTTGCCGTGGTGCTTGCGATGCGCCGTGACCTTGGTGCTGTCGGTGCAGCGGAAGCGGCAGCGCAGGCAGTGGAAGTGCGTGCTGGTGCCCGAGAAGGGGCAGTCGGCGAAGTGGCAGCTGAGTGAGGCCTTGAAGCGCTTGAAGTCGTCCAGCACCAGGTTGTCCACGCGGTCGTGGTGCTGCGCGTGCTTGTACATGTGCGTGCGCCCGCAGAACTTGTAGCCGCAGTTCTCGCGCGTGCAGTGGTAGTGGGTGACCTTGAGCGAGAACTGACAAGCTGCGTCCTTGCAGTCCTCGTAAAGGTCGAAGCGCCGGAAGCCCTCCAGCATCATGCCCTCGTCCAGCATCTTCCGGGAGGACGCCGTCTTCCGCCGCTTGCCGAAGGGCGACATGTCCTCGATGATCCAGAAGCGCTTTTTGGCCCCCGAGGCTGTCGGCATAGAGATGGTGTTCCCTGGGGAGGGGCAGGGAGGTCAGTGCAGAAGAGGGACCCACGTGGGCACCATCAACAGGGTTACACCCACATGGGACCCCTGATCTGGCATGGCGCCAGAGGGCGGCATTTAGGGAGCCCTCGGCTTCCCCTGGCTTGGGAGGCCTCTCCTGCCCCGCCCCCTCCCTACCCTGGCACAGCAGGGGTCCTGGGCTTCCCCTCCTCATCCCTGTCTGCAGAAGGGCCACACAGGCCTCTCCCCCGGGGGGTGGCAGCCCAACCAGCTCTGGGGGACGTGGTGGCTGCTTCCTGGCCAGTTTGGGTGGGAAGTGAGGACACGTCCTGGCGCTAATTGAAGCTGAAGGGGGAATCTAGGTCGGCAGAGTGCAATTAGCCAAGTTGGACTCGGGCCAAGACGCCAGCTATAGCTGCCTCTAATGAGGGACAGGCCGGCTCCTTTCCCGCCGGCTACCCGGCTTCCCTGGCTGCGCCTGTCTGCACAGGGGGAGCTGCCTACTCACAGTAGGGGTGCCAAGTGCCCCAGGGCTGTGCGGGGCTGCAACTCCCTGCCCTAAGGAGCACCTTGTCCTTGGTACCAGAAGGTTCTTTAAGGTCTTGTTGGGGTTTTCTACCCCAAGGGCTGGGAGAGGGCAGCCCTGATGGAGGACCAGGACTCAGGGAGCTCAATGCCTCTGCCCTCTGCTCAGAGTCGTAATTTACCTGGGTCAGGACCAGGGCAGGGGCTCAGCCATGGGGAGCGGAGCCCATTTATGTCCAGCTGGCCCAGACTGCTTCCTGGGATTTAGGATGCCCCCCTGCCAAGGCCAGGGTTGTAACCCTTTCTGGGAGGTACCTGTGCCCCTATGGCCATGGGTGAGGGGAAGCCCCAGCTCCTGCCAGAGGCACAGGCAGCTAGTCCTGGCTCCCCACGCCACCCTCCACAAACAAGAGAAGCTCTCTGACCAGCCCCACCAGAGCGTGGGTAGCCTCTGGGCTCCTCCCACACGGCTGACCTGCCTGGCTCCCCCAGAGCCTGCTTAGAAGGCCCAGCAGTCACTCTAGCCACCAAATGTCTGCCCTGCCCATTTCAGGCCA
|
AGCAATGGCTTATAGTCCTAGTGTGCAATATGAAGTTTACAAAAGGCTAGACTCCGCACTGTCGGCATCTTCTTCTTTTCTTCTTTTTTTTTTTTAAGTTTGATTTTGCTACATTGAAAAAATGTTTGTGTGTGTGTGTTTTTTTTTCCTTTACAAAACTCCTTCCACAGACGCCCGGGGCCTGTGGCGGGTCACTGTCTGGGCAGATGCTCACAGCAGCACGTGGTGCCCACAGAGTTCAGGAGGCTCTGGTAGGGGCTGTTTTAGAAAATAACTGATTTCCTGTTGAATCAGGTACGCTCCGTGCGACCACTCCTCCCTCCCTGCTCCCTGTCCAGTTCGGGTGGTCCTGGCTTTCTGGCTGTGGGCAGCTGAGAGGACAAAAGAAAGGAAGAAAAAAGGGAAAAGTAAACCACTGCCCCCCAGTTGAGCCAGGTTCCTCCTGGAGACCTCTGGGGAGGAGGCTTCTGGATGACAGCCTCCCCGCCAGCCTTCCATTCCCTCCTAGGCCTGTTCTCTCCCGGTGGCCCAATCTGACACCAGCTGGTGGCCTGGAGTAGGGAAGGTGGGCAGGTGTGGCCTCGGGCAGCCTGCCCTCGCAGGGGACTCGGTCCCCGGGGACCTCAGAGCCACTGGCCAGGTGTGTGCCTGCCAGGTCAGGCCCTGGCCCGGGCTTCGATGGCATCATCATCTCCAGGAAGGGGGATGTTTTGCAAAGGGAACCCAATCTGGGTAGACTGCACCAGCGAAGAAGCATCCCAAACAAAGTAATAAAACAAACTGGAAAAAAAAAAAAGCCCTATAAAGCCACACGCATCACCAAGAGAGAACTCAAATGTTAAATTAACTACAAACTTGGATCAACAGTAATAGTCCTTTTTTCTTGTCTCTACAAAATTCAAGTTAAGAGTTGGAATCACGCAGCTCCCATCAGTGCTATTGTGAAGACAGACAGCCTCAAACAGTTAAGGCCTCTACAAAAACCCTGGACCAAATCCCACAGGATAAACGGGACTGAGCCTCCAACCTCAGGCCGGGCCCAGGCGGGTCTGCACTCTCACCACGCCTGCTTTCTTCCTTTTTGTTCTATGTAGAATAATAACCTTTACAGGAAAAATACTGTACAACTTTCTTGTATTTTTTTCCATTTTGAACATTAAAGCCAAAACCAGGCGCATCCTTCCTGTTTGCACCACCAGGGTGGCCGAGACCCCGCCCCGGCCCCCAGCGGGCTACTCTGGGTTTTGGACGCAGCCTCGGTTTCCCTGGGGCGGAGGCTGGGGCCAGGGAGTCGCCAAACAGACCCGACCCAGGCCTGGGGGAGCAGCCGGGCCCTGGGGTGGGGCTGAGCTGGAGCTCCGCGGCTGCTACTCCCGTGAGGCTTCCTCCACGGTCCCTGTAGTGTCACCCGTGCTGACTGCCTTCTGCCCGTCTCCCCCTGGGCAGGGGGGAGGATCCTAGCTGCATGAGGGAGGCCCCGCCAGCGGCTCCAGGAGCCACCCCGCCCTGGTGGCGCGCGGTGGGGGTCCCGGTGGCCCCCAGCGCCCGTCCCAGTCCTGAGCAATGGTCGCGGGGCCGAATCGGCCGCGGGGAGGGGCGCCGGGGCAGCGGCCGGGAGCTGCGCCGCATTCGCCCGGGACCCCTGCTCCTAGGTTCCCTACCCCGGGACAAGAGCACCTTCTGTTTCCCTGAAGAGACCCGGCCTCCCTAGAGCAGGGCCACCGCCGCCGCCTGTGTCCTCGGCCGCGGAGCACCAGAGGGGTCCCCGCCTCTGTCCTGAGACGGACTCGGGGTCCGGAAGCACCGGCGGGGCGCGGGGCTCTGCCCAGGGGCCGCTTCGCGCGGGGCGGCGCCGCTCCCGAGGCCGAGGCCGAGGCCGCCGCCAGGGCCACCCGCGGGCGCCGCTAGGGCGAGGAGGCTGCAGTGGGCGCGGGGCCGGGGGCGCCCAGGGCCGCCAGCGCCGCCAAGGCCGGGGTCCGCGCGCCCGCGCCCGCCGCCTCCGCCGCCGCCTCGGGCAGCGACTCCTCCGAGTCGGTGCGCAGGTCCTCGTCGTCGTCGTCCTCGTCGTCGTCGTCCTCGTCGTCGTCCTCGTCCTCGTCGTCTTCGGCCTCCTCCTCCGGCAGCTCCAGCTCCTCCTCCTCGTCCTCCTGCGAGGACTCCCCAGCTGCGGCGGCGGCGGCGGCGGCGCCCTCGCGCGGCCCGGGGGCGGCGGCGTCGGGCGGGCCGGGGTCGCCCGCGTCGCCCAGCGCCAGGCCCAGGCCGGCGGCCGCCGACTGCAGGAAGAGCAGCGAGCCCGGCTCGGCGCCCAGCGACAGGGAGCCGTCCAGACTGATGGGAGGCCCGGGCGCGGGGCCCTCTGCCGCGGGCTCGCCGCGCTCCTGCTTCTCGTGCTTGCGCTTGTGCGAGTCCATCTGCGACATGCCCACCACCGTGTGGCGGCAGCCCGGGAAGGTGCAGTGGAAGTGCGAGCACTTGAGCTTGTACTTGCAGTCGGGCACGGCGCAGTCGGCGCTGGAGCTGAACTGGCAGAAGCCCGCGGCGCTGATCACGTCCTGTTTGCCGTGGTGCTTGCGATGCGCCGTGACCTTGGTGCTGTCGGTGCAGCGGAAGCGGCAGCGCAGGCAGTGGAAGTGCGTGCTGGTGCCCGAGAAGGGGCAGTCGGCGAAGTGGCAGCTGAGTGAGGCCTTGAAGCGCTTGAAGTCGTCCAGCACCAGGTTGTCCACGCGGTCGTGGTGCTGCGCGTGCTTGTACATGTGCGTGCGCCCGCAGAACTTGTAGCCGCAGTTCTCGCGCGTGCAGTGGTAGTGGGTGACCTTGAGCGAGAACTGACAAGCTGCGTCCTTGCAGTCCTCGTAAAGGTCGAAGCGCCGGAAGCCCTCCAGCATCATGCCCTCGTCCAGCATCTTCCGGGAGGACGCCGTCTTCCGCCGCTTGCCGAAGGGCGACATGTCCTCGATGATCCAGAAGCGCTTTTTGGCCCCCGAGGCTGTCGGCATAGAGATGGTGTTCCCTGGGGAGGGGCAGGGAGGTCAGTGCAGAAGAGGGACCCACGTGGGCACCATCAACAGGGTTACACCCACATGGGACCCCTGATCTGGCATGGCGCCAGAGGGCGGCATTTAGGGAGCCCTCGGCTTCCCCTGGCTTGGGAGGCCTCTCCTGCCCCGCCCCCTCCCTACCCTGGCACAGCAGGGGTCCTGGGCTTCCCCTCCTCATCCCTGTCTGCAGAAGGGCCACACAGGCCTCTCCCCCGGGGGGTGGCAGCCCAACCAGCTCTGGGGGACGTGGTGGCTGCTTCCTGGCCAGTTTGGGTGGGAAGTGAGGACACGTCCTGGCGCTAATTGAAGCTGAAGGGGGAATCTAGGTCGGCAGAGTGCAATTAGCCAAGTTGGACTCGGGCCAAGACGCCAGCTATAGCTGCCTCTAATGAGGGACAGGCCGGCTCCTTTCCCGCCGGCTACCCGGCTTCCCTGGCTGCGCCTGTCTGCACAGGGGGAGCTGCCTACTCACAGTAGGGGTGCCAAGTGCCCCAGGGCTGTGCGGGGCTGCAACTCCCTGCCCTAAGGAGCACCTTGTCCTTGGTACCAGAAGGTTCTTTAAGGTCTTGTTGGGGTTTTCTACCCCAAGGGCTGGGAGAGGGCAGCCCTGATGGAGGACCAGGACTCAGGGAGCTCAATGCCTCTGCCCTCTGCTCAGAGTCGTAATTTACCTGGGTCAGGACCAGGGCAGGGGCTCAGCCATGGGGAGCGGAGCCCATTTATGTCCAGCTGGCCCAGACTGCTTCCTGGGATTTAGGATGCCCCCCTGCCAAGGCCAGGGTTGTAACCCTTTCTGGGAGGTACCTGTGCCCCTATGGCCATGGGTGAGGGGAAGCCCCAGCTCCTGCCAGAGGCACAGGCAGCTAGTCCTGGCTCCCCACGCCACCCTCCACAAACAAGAGAAGCTCTCTGACCAGCCCCACCAGAGCGTGGGTAGCCTCTGGGCTCCTCCCACACGGCTGACCTGCCTGGCTCCCCCAGAGCCTGCTTAGAAGGCCCAGCAGTCACTCTAGCCACCAAATGTCTGCCCTGCCCATTTCAGGCCANNNNNNNNNNNN
|
benign
| 2,398 |
Classify the chromosome 1 variant at position 10643146 affecting gene CASZ1 (castor zinc finger 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
TAGCCACCAAATGTCTGCCCTGCCCATTTCAGGCCAGGCCCCATAGGCCACCCGGAGTGGACAAAAACGGAGAGAGACTAAGGGCTGTGACGGTGTAGGGGCACCCAGGCAGGGGGCAAGGGATGGCCTCAGGCCCAAAACCTGGTGGGTGAGGAGCGGCTTTGGGTCTGAAGTCACAGGGTCTGGTTATGCCAGAGTGGAGCTTCCAACAGCCGGAAGTCCCTGAGGAGGGGGAGGCTCGGCCCTGCCCTGGCCATAACTCCTGGGGCCTGTACTCAGGCAGCACGTGAGGCAAGAATTAGCAGAGGAGTCCGAGCCCGGGTGGTGTCTACGCTCAAGGGAGGGGGCGGGCAGATGCCATCCCGGTGGGTATCAGATATGGGGGTGGGATGGGAGGTGCCTCTGCCCCTGAGCACTGCCGGGGCCTGAGTCCACAGAGACTTCCCTTACTGCTCAGCTTTGGGCGTGGCCCGGGGCTCAGGCTGGAATCTGGACCCTCTGAACCTGGGCAGGTCCCAGACCCCAGCAGACCTTCCCGAAAGCCTCCTCTATCTCTCCCTAGTGCCAGATCCCAGGGGGACTCCTCAGAGTAGAAGGGACAGGTCCTGCCTTGCCCCAGGCCGAGGAAGGCAGACCCTACAGGGCCTCCGGCAGGATCAGCCATCTCTGGGACTCTGAGCAGTTGTGAACAAGGGAGAATCCCTGGCAGCAGTGCTCTGGCCTGCCCAGCACTGAGCAGGAGCCACGAGGAGTTGTCCCTGGGATGGAGACCACGCTCTCTAGTCTCGGGGATGCTTGGCTGTGAGGGGTGCAGAGTGGCCCCGTCCTTGGCCTGGCTGGCTGCAGAAAAGGGTCAGGCCCCGGAGCGTGGCCTGGAGGGTGGGTTGGGGTGATGGACAGCGGTGAGAAGGCATGTGCGCGTTACCTGCAGCATCCTGAACTAGGGGGACGTCACTTTTTACTGGAGTTGGAGTGGCAGTGACGGGCGGGAAGCTGGGCGGGCTGCAGGTGGGATGGGCCAGGCCCCGGCCGGCTCCGAGAGTGGCACTGAGCAGAGAGTATGAGAGACAGGACGGAGAGAAGAGGCAGGGGAGGGGGGGGAGGGGCGGCCGGAGCGTGGCCGGCGAGAAGGATGGAGTCGCTGGCGGCTGCGGGGCCGTGCGGGCAGCCTCATCACCAGCGGCCGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGCCGGGCAGCCTGGAGAGGGTGGAGAAAAGCAGAAAAAAAAAAAAAAAAAGAAACCAAAACAAAGAACAAACAAACAGAAAGAACCAAAATGAGAAACCCGATGGCAGAAGCAGGTATGGCATGAAAATGTGTGCACGGATGAGCAGAGAGAGGGACACAAGAAGAAGGGGCAGGAGGAGAGAGAGGCGGGGCAGTGCCAGGGGTCACGTGGGCAGGTGTGCCGGGCAGGACCGGCGCTGGGCCCAGGCCGGGTGGGAGGCAGCGGAGGAAGGAGGCTGGGGCTGCGCTGCTCCCGCTGTGGCTCAGAGAGGACGGGCCCAGGGTCCTCTCCCGGAAACTGACGCAAAGGGCAGTGCCAGGGAGGCGGGAGGATGGCGGGAGGGGCCTCGATGACCCAGTCCCACAGACCAGCTGGCTCTGCTGCACGCCAGCCTGTCCTCCTCGGAGGCCGCGTGCCCCGGACCTTCTGTCCCAAGCTGCACCCAGCGGTGCTGGGCTTTGGGAGTGGGGCCTGGCCCTGCCAGCAGCCCCTGCCTGCCGCTCACCTGCCGCGGTGCTCTCGTTACCCACGGGGGTGCTGGAGCAGCTCCGGTCCATGGTGGATGACTCAGAGGACATGGCGCCTGGGCTGCAGCCAGTGTAGTCCATGCACTCATCTGTCTCAGCATCCATCAGGCCTGGGGGGCCCTGAAAGGACACGGGGGTCCCTGAGGAAGTGGGGCTGTGGGGTATGCTGCCCACAGAGGGCAGGCTGAGGCTCCATGCAGCACAGGCCTGAGAGTGAGCGTGGGACCATGATGCGTTCCCGCCACCCTGGCTGGGCTCTCACCTGGGGGGGGCTCTCACCTGGGAGGGGGGCACGCGGTCGAAGTTCTTCCCCAGCATCCTCCGCATGTGCTTCCGCGCGTGGGAGGTCATCTGGTGCTTGAGGAGGAAGGAGAACTGGCAGCCCTCCCGGATGCAGTGGAAGTGGCTGTTCACCTGGTTGTACTTGCAACCTGTGGACACAGCCCCACCTGGCATGAGCCCCCAGCTGGCCAGCGCTCATGGCTTCCAGGTCCTGTTGGGCACTGTTCTGGGCATGGGGGCAGTGTGGTCAGTAAGGCAGATGGTATCTGGGGAAAGGGCGCTGAGCCGAGGTGGCAGTCTTAGGAGGAAGGTCAGGAAGTCCAAAGCCCCCTGGCTGTCCAAACCCTGGGCCTCCTCTCCAGCCTGGCAGAGGCGAGTGACAATGCTGGGCAGGCCCCCATCCCCTGGCTCACACACAGGGAGGTGCACAGTTCCAAGGCAAGGGACCCTCATGGTCCCTGCACACTGGGCCAGCTACCTCCCAGGAAGCCACCTGTCCCCACATCTCTGCTGGGGAGCCCGGGGTGCTGTCTGCCCCTCTGCCCAGGCCCCAGCACCCACGGGGCCTCGCTCTGGGCCGAGAACAAACAGAGCAGGCGGGACTGAAACAGCATCATGGGGCAGGTGAGGGCCTGTCCGCTGCCATGGCGCCCAGGCCGGCCAGGTGTCTTCTGTCATCCCCCAGCTTTGTTTGGCCCCAACTATCGCCAAAAACACCACAAGTTGAGTAAATAATAGCAACTGCAGAATACCCTGACATCTGTAAACTGAGCCCAGGGACAGCACAGGCCGCAAGTGTTGACGCTTATTGGCATGGCTACCAGTCCTCTCCCTGGCCGAGAACTCCTTTTTGAATTCATACTTGAAGGCAAGGTTTGTTTCCTTTTTCTGGCAGTTGACTTTGAGGATGTCACCTTTCACTTTTGGAAGGACCAGAATGCAGCAGCCCCCACCCCTGCTGCCCTGACCACCAGGCCACAACGGGCCTTGCCTGCAGCCCAGGGGCCTCTGCTGGGCGGCCTGGCTCCCGCCTGCCCGTGGGTTCTGGTCTCTTCCTAGGGAGAGTCCTGCCTCATCAGCAGGCTGTGAACAGGGGCCAGGGGCTCAGCTCCCAGCAGCACGGCTACCTCTCAGGCATCAGTGGCCTCCCTTCCCAAAGCCACAGCACCCCTTCCTGGGTTCCGGGTCACGGGTGCTCCAGCTGAGCCCATGGAGAACTTGACCGTTCCCCATTAGATCTGAGTCGCCACCACTGTCACCACCCCCACCCCTGTGACAGCACCCAGCCTGGCACACAGCTGTCCCTCCATAAATAACTGCAGAATGGATGAATGGAAGAACAAACTGTAGCTCACTGCGGACAAAAACCTCATCATGAAAGCCATGGAAAGAGATCCCAGAGCAAAGAACGTTGAACTCCTAAAAATTCCCTGCTCGCCTTCTTGATAAGAAAAGGAAAACAGAACCACGCCCAGGCCCTGGATGCTCAAGATGAGGTCCCAGGGCGGCTGTCTGGGGGTGGAGGGGCGGTGCCCTGCGTGAGTCACCCCCACTCTTCTTGCTGGGCTTTGTGGGTTTGGACTGTTTCACAAGCTTGACAGTGCCTAGCCCGTGATATCTGGGACACCTTTAACAAAACGTGGAGCCTGCGGTGGGGAACAGGACGCGGGTACCAGGAGAGGCGGCCCAGGCCACGGGGGCCATGGTCTTGATGCCTGCTGCAAGTCCCTGCCCGCAGCCCCAGCCCTCGGTACCTAGCCTGCCACACTCCTCGCGCTTGGTGAAGTATTTGAAGCCATTGGCTGCCCGCCGCTCCGCCTTCTCATGCTTCTTGATGTGCCAGGGGAGCTTGGTGGTGATGTTGGTCACAAAATAGCAGCCGGTGCGGAGGCAGTGGTAGTGCCCACGCATTCGGAACTCGCAGTGCTGCAGGGAGACACGGGAGGGTCAGGACAGGCGGGTGACTTTCAAGAGCTCCTGCCTGCCCCGGGCCTGAGGCTGTGGTGGGCCCTTGGCACATGTGTTCTTCTC
|
TAGCCACCAAATGTCTGCCCTGCCCATTTCAGGCCAGGCCCCATAGGCCACCCGGAGTGGACAAAAACGGAGAGAGACTAAGGGCTGTGACGGTGTAGGGGCACCCAGGCAGGGGGCAAGGGATGGCCTCAGGCCCAAAACCTGGTGGGTGAGGAGCGGCTTTGGGTCTGAAGTCACAGGGTCTGGTTATGCCAGAGTGGAGCTTCCAACAGCCGGAAGTCCCTGAGGAGGGGGAGGCTCGGCCCTGCCCTGGCCATAACTCCTGGGGCCTGTACTCAGGCAGCACGTGAGGCAAGAATTAGCAGAGGAGTCCGAGCCCGGGTGGTGTCTACGCTCAAGGGAGGGGGCGGGCAGATGCCATCCCGGTGGGTATCAGATATGGGGGTGGGATGGGAGGTGCCTCTGCCCCTGAGCACTGCCGGGGCCTGAGTCCACAGAGACTTCCCTTACTGCTCAGCTTTGGGCGTGGCCCGGGGCTCAGGCTGGAATCTGGACCCTCTGAACCTGGGCAGGTCCCAGACCCCAGCAGACCTTCCCGAAAGCCTCCTCTATCTCTCCCTAGTGCCAGATCCCAGGGGGACTCCTCAGAGTAGAAGGGACAGGTCCTGCCTTGCCCCAGGCCGAGGAAGGCAGACCCTACAGGGCCTCCGGCAGGATCAGCCATCTCTGGGACTCTGAGCAGTTGTGAACAAGGGAGAATCCCTGGCAGCAGTGCTCTGGCCTGCCCAGCACTGAGCAGGAGCCACGAGGAGTTGTCCCTGGGATGGAGACCACGCTCTCTAGTCTCGGGGATGCTTGGCTGTGAGGGGTGCAGAGTGGCCCCGTCCTTGGCCTGGCTGGCTGCAGAAAAGGGTCAGGCCCCGGAGCGTGGCCTGGAGGGTGGGTTGGGGTGATGGACAGCGGTGAGAAGGCATGTGCGCGTTACCTGCAGCATCCTGAACTAGGGGGACGTCACTTTTTACTGGAGTTGGAGTGGCAGTGACGGGCGGGAAGCTGGGCGGGCTGCAGGTGGGATGGGCCAGGCCCCGGCCGGCTCCGAGAGTGGCACTGAGCAGAGAGTATGAGAGACAGGACGGAGAGAAGAGGCAGGGGAGGGGGGGGAGGGGCGGCCGGAGCGTGGCCGGCGAGAAGGATGGAGTCGCTGGCGGCTGCGGGGCCGTGCGGGCAGCCTCATCACCAGCGGCCGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGCCGGGCAGCCTGGAGAGGGTGGAGAAAAGCAGAAAAAAAAAAAAAAAAAGAAACCAAAACAAAGAACAAACAAACAGAAAGAACCAAAATGAGAAACCCGATGGCAGAAGCAGGTATGGCATGAAAATGTGTGCACGGATGAGCAGAGAGAGGGACACAAGAAGAAGGGGCAGGAGGAGAGAGAGGCGGGGCAGTGCCAGGGGTCACGTGGGCAGGTGTGCCGGGCAGGACCGGCGCTGGGCCCAGGCCGGGTGGGAGGCAGCGGAGGAAGGAGGCTGGGGCTGCGCTGCTCCCGCTGTGGCTCAGAGAGGACGGGCCCAGGGTCCTCTCCCGGAAACTGACGCAAAGGGCAGTGCCAGGGAGGCGGGAGGATGGCGGGAGGGGCCTCGATGACCCAGTCCCACAGACCAGCTGGCTCTGCTGCACGCCAGCCTGTCCTCCTCGGAGGCCGCGTGCCCCGGACCTTCTGTCCCAAGCTGCACCCAGCGGTGCTGGGCTTTGGGAGTGGGGCCTGGCCCTGCCAGCAGCCCCTGCCTGCCGCTCACCTGCCGCGGTGCTCTCGTTACCCACGGGGGTGCTGGAGCAGCTCCGGTCCATGGTGGATGACTCAGAGGACATGGCGCCTGGGCTGCAGCCAGTGTAGTCCATGCACTCATCTGTCTCAGCATCCATCAGGCCTGGGGGGCCCTGAAAGGACACGGGGGTCCCTGAGGAAGTGGGGCTGTGGGGTATGCTGCCCACAGAGGGCAGGCTGAGGCTCCATGCAGCACAGGCCTGAGAGTGAGCGTGGGACCATGATGCGTTCCCGCCACCCTGGCTGGGCTCTCACCTGGCGGGGGGCTCTCACCTGGGAGGGGGGCACGCGGTCGAAGTTCTTCCCCAGCATCCTCCGCATGTGCTTCCGCGCGTGGGAGGTCATCTGGTGCTTGAGGAGGAAGGAGAACTGGCAGCCCTCCCGGATGCAGTGGAAGTGGCTGTTCACCTGGTTGTACTTGCAACCTGTGGACACAGCCCCACCTGGCATGAGCCCCCAGCTGGCCAGCGCTCATGGCTTCCAGGTCCTGTTGGGCACTGTTCTGGGCATGGGGGCAGTGTGGTCAGTAAGGCAGATGGTATCTGGGGAAAGGGCGCTGAGCCGAGGTGGCAGTCTTAGGAGGAAGGTCAGGAAGTCCAAAGCCCCCTGGCTGTCCAAACCCTGGGCCTCCTCTCCAGCCTGGCAGAGGCGAGTGACAATGCTGGGCAGGCCCCCATCCCCTGGCTCACACACAGGGAGGTGCACAGTTCCAAGGCAAGGGACCCTCATGGTCCCTGCACACTGGGCCAGCTACCTCCCAGGAAGCCACCTGTCCCCACATCTCTGCTGGGGAGCCCGGGGTGCTGTCTGCCCCTCTGCCCAGGCCCCAGCACCCACGGGGCCTCGCTCTGGGCCGAGAACAAACAGAGCAGGCGGGACTGAAACAGCATCATGGGGCAGGTGAGGGCCTGTCCGCTGCCATGGCGCCCAGGCCGGCCAGGTGTCTTCTGTCATCCCCCAGCTTTGTTTGGCCCCAACTATCGCCAAAAACACCACAAGTTGAGTAAATAATAGCAACTGCAGAATACCCTGACATCTGTAAACTGAGCCCAGGGACAGCACAGGCCGCAAGTGTTGACGCTTATTGGCATGGCTACCAGTCCTCTCCCTGGCCGAGAACTCCTTTTTGAATTCATACTTGAAGGCAAGGTTTGTTTCCTTTTTCTGGCAGTTGACTTTGAGGATGTCACCTTTCACTTTTGGAAGGACCAGAATGCAGCAGCCCCCACCCCTGCTGCCCTGACCACCAGGCCACAACGGGCCTTGCCTGCAGCCCAGGGGCCTCTGCTGGGCGGCCTGGCTCCCGCCTGCCCGTGGGTTCTGGTCTCTTCCTAGGGAGAGTCCTGCCTCATCAGCAGGCTGTGAACAGGGGCCAGGGGCTCAGCTCCCAGCAGCACGGCTACCTCTCAGGCATCAGTGGCCTCCCTTCCCAAAGCCACAGCACCCCTTCCTGGGTTCCGGGTCACGGGTGCTCCAGCTGAGCCCATGGAGAACTTGACCGTTCCCCATTAGATCTGAGTCGCCACCACTGTCACCACCCCCACCCCTGTGACAGCACCCAGCCTGGCACACAGCTGTCCCTCCATAAATAACTGCAGAATGGATGAATGGAAGAACAAACTGTAGCTCACTGCGGACAAAAACCTCATCATGAAAGCCATGGAAAGAGATCCCAGAGCAAAGAACGTTGAACTCCTAAAAATTCCCTGCTCGCCTTCTTGATAAGAAAAGGAAAACAGAACCACGCCCAGGCCCTGGATGCTCAAGATGAGGTCCCAGGGCGGCTGTCTGGGGGTGGAGGGGCGGTGCCCTGCGTGAGTCACCCCCACTCTTCTTGCTGGGCTTTGTGGGTTTGGACTGTTTCACAAGCTTGACAGTGCCTAGCCCGTGATATCTGGGACACCTTTAACAAAACGTGGAGCCTGCGGTGGGGAACAGGACGCGGGTACCAGGAGAGGCGGCCCAGGCCACGGGGGCCATGGTCTTGATGCCTGCTGCAAGTCCCTGCCCGCAGCCCCAGCCCTCGGTACCTAGCCTGCCACACTCCTCGCGCTTGGTGAAGTATTTGAAGCCATTGGCTGCCCGCCGCTCCGCCTTCTCATGCTTCTTGATGTGCCAGGGGAGCTTGGTGGTGATGTTGGTCACAAAATAGCAGCCGGTGCGGAGGCAGTGGTAGTGCCCACGCATTCGGAACTCGCAGTGCTGCAGGGAGACACGGGAGGGTCAGGACAGGCGGGTGACTTTCAAGAGCTCCTGCCTGCCCCGGGCCTGAGGCTGTGGTGGGCCCTTGGCACATGTGTTCTTCT
|
benign
| 2,403 |
Is the genetic variant on chromosome 1, position 11020666, gene TARDBP (TAR DNA binding protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
TTAAGCCACTGCATCCAGTTGAAACCATTCAAATTGTTTTCTAAGGAACTATGATTTGGGAATGGAGTGTGTGAGTATGTGCACTTTTAGAGTAAACTTGTATCATCCTTTCTAGGTCAAGAAAGATCTTAAGACTGGTCATTCAAAGGGGTTTGGCTTTGTTCGTTTTACGGAATATGAAACACAAGTGAAAGTAATGTCACAGCGACATATGATAGATGGACGATGGTGTGACTGCAAACTTCCTAATTCTAAGGTACTTGCGTCTGTGCTTTGGGAATTTTTGCCAACAAACTTCCTTAGAGGATTGTAAGATAAAATGTTAAACACACTTAGAAAAGATAGCGGCAGGGTGTGTTCATGAAATCCTTTTGTCTTGTTGAAGTCTTTGGCCCTTAGTGCATGCTGAATATTTTATGCTTGTTTGAAATATTTAGTTTATTACTTCTCCAAACTAAACCTTTGTTCATTTTGTTCTTCCTTTTCGCTATGGATGGAAAAGAGAAAAGGTTATTTGTCAAGTTAATAGTTTCTTACATAGTTATATGTTAAAACATAAAGAGAATCAGAATACATACATTAATTGTTATAAAGACCTAACTTTTTCCAAGCAAACAAATAACATTGGCTTATTTGGAACATCATCATCTTTGCCAAGAGATTGCTTATTTATTAATTTTCTCAAATCCAAACACAGTCATGTATCACATGGCAAAGTTGATCAGTCAGCAGCAGACCTCGTGTACAGCAGTGGTCCCATAGGATTATAACACTGTTTTTACTGTACCCTTTCTATGTTTAGATACACAAATACTTACCATCATGTTATAGTCGCCTACAGTGTTGAGTACAGTAACTTGAAAGTTTGTGGCCTGGGAGCAATAGGCTATACCATCTAGCCTAGATGTGGGGTAGGCTATGCTATCTGGGTTTATATGATGTTTGCACAACGACTTTTTTTTTTTGAGAGAGAGAGTCTCACTCTGTCATCCGGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGTCGTTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGACTACAGGTGCCCACCAACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACTTCATGATCCGCCCATCTCGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTATTGCTCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCTCTTCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGATGCTGGGATTACAGGTGCCTGCCACCACACCCGGCTGATTTTTGTATTAGTAGAGGTGGGGTTTCACCATGTTGACCAGGCTGGTTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTCAGCCACCACACCTGGCCACGATGATGAAATTGTGTAATGGCTCATGATGTATTTATATCCATCATTATGTGATGCATGACTGTGTACTTTTGTAACTTAAAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAATACAAAAAAAAAAAAAAATAGCTCGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGCCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCGGAGGTGGCAGTGAACTGAGATCACACCACTGCATTCCAGCCCAGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAATATGTCCCAGGTAATTAGGTAATTTCTCTTGAACATTGCCCATGCAGCTAATTGCTATTCTTAGCTAAGTTTTCTGACCTTGTAAGACGTAGGGTGTATGGGCCTAGATGTTTGTGATACCTGTATCTGATATCACAAATACAACATTTTAAGAAATCTAAAAGTAAATATGCCTTTAGATAATTTTCAGTATGTGGCATTTGGGAATGTTATATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCGGGCTGGAGTGTGATGGCGCGATCTTGGCTCGCTGCATCCTCCACCTCATGGGTTCAAGCGATTGTCTTGGCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTGATTTTTTTGTGCTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCAGTTTTTTGTATCTTTAGTAGATAACGGGGTTTCACTGTTTTGATCTGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCTGCTCCCGGCCCATTTTTTAAATTATTATTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTGGAACACAGTGGTGTAATCATAGCTCACTACACCCTAGAACTCCTGGGCTCAGCCTCCAGGGGGAGGATCCTCCAGCTTCAGCCTCCCAAGTAGCTAGGACAGATGCATGCCACTACGCCCAGCTAATGTGGCTTTTTTGTGGTTTTTTTTGATAGAGGTGGGGTCTCCCTGTGTTGTCTAGGCTGCCAGGCTAGTCTTGAACTATTGGCCTCACACAGTCCTCCCACCTTGGCCTCCCAAAGCGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTATGTCTTTTGAAAATCGACTGAAATATCACTGCTGCTGTTAATAAAACTAAAAGCTGTATTGGGGGTTTAAATGAAATGAGTGTTCATTGCTTATTTTTCCTCTGGCTTTAGATAAATTAATGCTTGTAATCTAAGTTTTGTTGCTACTTTAAATATATGAATCAGTGGTTTAATCTTCTTTGTTTACATCCCTTATTTCTTATAGATTGCGCAGTCTCTTTGTGGAGAGGACTTGATCATTAAAGGAATCAGCGTTCATATATCCAATGCCGAACCTAAGCACAATAGCAATAGACAGTTAGAAAGAAGTGGAAGATTTGGTGGTAATCCAGGTGGCTTTGGGAATCAGGGTGGATTTGGTAATAGCAGAGGGGGTGGAGCTGGTTTGGGAAACAATCAAGGTAGTAATATGGGTGGTGGGATGAACTTTGGTGCGTTCAGCATTAATCCAGCCATGATGGCTGCCGCCCAGGCAGCACTACAGAGCAGTTGGGGTATGATGGGCATGTTAGCCAGCCAGCAGAACCAGTCAGGCCCATCGGGTAATAACCAAAACCAAGGCAACATGCAGAGGGAGCCAAACCAGGCCTTCGGTTCTGGAAATAACTCTTATAGTGGCTCTAATTCTGGTGCAGCAATTGGTTGGGGATCAGCATCCAATGCAGGGTCGGGCAGTGGTTTTAATGGAGGCTTTGGCTCAAGCATGGATTCTAAGTCTTCTGGCTGGGGAATGTAGACAGTGGGGTTGTGGTTGGTTGGTATAGAATGGTGGGAATTCAAATTTTTCTAAACTCA
|
TTAAGCCACTGCATCCAGTTGAAACCATTCAAATTGTTTTCTAAGGAACTATGATTTGGGAATGGAGTGTGTGAGTATGTGCACTTTTAGAGTAAACTTGTATCATCCTTTCTAGGTCAAGAAAGATCTTAAGACTGGTCATTCAAAGGGGTTTGGCTTTGTTCGTTTTACGGAATATGAAACACAAGTGAAAGTAATGTCACAGCGACATATGATAGATGGACGATGGTGTGACTGCAAACTTCCTAATTCTAAGGTACTTGCGTCTGTGCTTTGGGAATTTTTGCCAACAAACTTCCTTAGAGGATTGTAAGATAAAATGTTAAACACACTTAGAAAAGATAGCGGCAGGGTGTGTTCATGAAATCCTTTTGTCTTGTTGAAGTCTTTGGCCCTTAGTGCATGCTGAATATTTTATGCTTGTTTGAAATATTTAGTTTATTACTTCTCCAAACTAAACCTTTGTTCATTTTGTTCTTCCTTTTCGCTATGGATGGAAAAGAGAAAAGGTTATTTGTCAAGTTAATAGTTTCTTACATAGTTATATGTTAAAACATAAAGAGAATCAGAATACATACATTAATTGTTATAAAGACCTAACTTTTTCCAAGCAAACAAATAACATTGGCTTATTTGGAACATCATCATCTTTGCCAAGAGATTGCTTATTTATTAATTTTCTCAAATCCAAACACAGTCATGTATCACATGGCAAAGTTGATCAGTCAGCAGCAGACCTCGTGTACAGCAGTGGTCCCATAGGATTATAACACTGTTTTTACTGTACCCTTTCTATGTTTAGATACACAAATACTTACCATCATGTTATAGTCGCCTACAGTGTTGAGTACAGTAACTTGAAAGTTTGTGGCCTGGGAGCAATAGGCTATACCATCTAGCCTAGATGTGGGGTAGGCTATGCTATCTGGGTTTATATGATGTTTGCACAACGACTTTTTTTTTTTGAGAGAGAGAGTCTCACTCTGTCATCCGGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGTCGTTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGACTACAGGTGCCCACCAACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACTTCATGATCCGCCCATCTCGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTATTGCTCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCTCTTCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGATGCTGGGATTACAGGTGCCTGCCACCACACCCGGCTGATTTTTGTATTAGTAGAGGTGGGGTTTCACCATGTTGACCAGGCTGGTTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTCAGCCACCACACCTGGCCACGATGATGAAATTGTGTAATGGCTCATGATGTATTTATATCCATCATTATGTGATGCATGACTGTGTACTTTTGTAACTTAAAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAATACAAAAAAAAAAAAAAATAGCTCGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGCCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCGGAGGTGGCAGTGAACTGAGATCACACCACTGCATTCCAGCCCAGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAATATGTCCCAGGTAATTAGGTAATTTCTCTTGAACATTGCCCATGCAGCTAATTGCTATTCTTAGCTAAGTTTTCTGACCTTGTAAGACGTAGGGTGTATGGGCCTAGATGTTTGTGATACCTGTATCTGATATCACAAATACAACATTTTAAGAAATCTAAAAGTAAATATGCCTTTAGATAATTTTCAGTATGTGGCATTTGGGAATGTTATATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCGGGCTGGAGTGTGATGGCGCGATCTTGGCTCGCTGCATCCTCCACCTCATGGGTTCAAGCGATTGTCTTGGCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTGATTTTTTTGTGCTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCAGTTTTTTGTATCTTTAGTAGATAACGGGGTTTCACTGTTTTGATCTGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCTGCTCCCGGCCCATTTTTTAAATTATTATTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTGGAACACAGTGGTGTAATCATAGCTCACTACACCCTAGAACTCCTGGGCTCAGCCTCCAGGGGGAGGATCCTCCAGCTTCAGCCTCCCAAGTAGCTAGGACAGATGCATGCCACTACGCCCAGCTAATGTGGCTTTTTTGTGGTTTTTTTTGATAGAGGTGGGGTCTCCCTGTGTTGTCTAGGCTGCCAGGCTAGTCTTGAACTATTGGCCTCACACAGTCCTCCCACCTTGGCCTCCCAAAGCGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTATGTCTTTTGAAAATCGACTGAAATATCACTGCTGCTGTTAATAAAACTAAAAGCTGTATTGGGGGTTTAAATGAAATGAGTGTTCATTGCTTATTTTTCCTCTGGCTTTAGATAAATTAATGCTTGTAATCTAAGTTTTGTTGCTACTTTAAATATATGAATCAGTGGTTTAATCTTCTTTGTTTACATCCCTTATTTCTTATAGATTGCGCAGTCTCTTTGTGGAGAGGACTTGATCATTAAAGGAATCAGCGTTCATATATCCAATGCCGAACCTAAGCACAATAGCAATAGACAGTTAGAAAGAAGTGGAAGATTTGGTGGTAATCCAGGTGGCTTTGGGAATCAGGGTGGATTTGGTAATAGCAGAGGGGGTGGAGCTGGTTTGGGAAACAATCAAGGTAGTAATATGGGTGGTGGGATGAACTTTGGTGCGTTCAGCATTAATCCAGCCATGATGGCTGCCGCCCAGGCAGCACTACAGAGCAGTTGGGGTATGATGGGCATGTTAGCCAGCCAGCAGAACCAGTCAGGCCCATCGGGTAATAACCAAAACCAAGGCAACATGCAGAGGGAGCCAAACCAGGCCTTCGGTTCTGGAAATAACTCTTATAGTGGCTCTAATTCTGGTGCAGCAATTGGTTGGGGATCAGCATCCAATGCAGGGTCGGGCAGTGGTTTTAATGGAGGCTTTGGCTCAAGCATGGATTCTAAGTCTTCTGGCTGGGGAATGTAGACAGTGGGGTTGTGGTTGGTTGGTATAGAATGGTGGGAATTCAAATTTTTCTAAACTC
|
benign
| 2,473 |
Is the genetic mutation found on chromosome 1 at position 11112907, within the gene MTOR (mechanistic target of rapamycin kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
AACCAAATCCACCACCATCTGGTGCCAGCAGAACTGGCTGTCCTAGTTCCCTTCTGTATGCTACAGACAGCATATAGTAGCCACTTGAGAATTGTTAGGGAGGTGGGCCCTGAGAATGAAGCCAGTAAGTCTCAGCACACTTCGTTTGAGACCAGCCACCAGTATAAGCTCCCCCAGAGACTGTGTGTCCTATGAGCCTGGTGATTCAGGCATTCACAAATCCTGTCACAGTGTCCATGTATGACATTATAAGCCAGTATCCCAATTTCTTGCCTGAAACACCCTTTTCCTTTCTACCCATCAGATTCCACCCATCCAATAAGGATAAATTACCCTTTGGCAAGGTGGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACGTGGTGAAACCCTATCTCTACTAAAAATTCAAAAAAATTAGCTGAGCATGGTGGCATGCGTCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACTCGGGAGGCAGAGGTTGCAGCGAGCCGAGACTGCGCCACCATACTCCAGCCTGGGTGACAAAGCGAGACTCTGTCTCAAGAAAAAAAAAAAAAAAAGAAAGAAAAATTACCCTTTGTCAGGTGAAGTGATGGTTAGATGCCACCAACCCAAGTGCTCTCTTCGCAGCTACGGTTCACAGTGAAGTCCCCTTTTCTGAATCTCCACAGCCCTACTCCACACGAAAGCACCCGCAGGCTCCACGGCAGAGTCTCCTGCTCTCTGACTATTTCACGCAGGTTATGGTCAATTCTGTAATGCTTTCTGTGCTTCTTCAGGCGACCACTGTACCTCACATTTTCTTTTTGCACCCCTAGACATTATTTGGCTTAGTTTATTAACTAGTTGTAAGTGCTCTGTAAACATTTGTAGAAAAGATATACTTTTTTACACCCTAACAGTAATTCCCAAAGTATGAACTATGTAGGGTGTTGCTAAATGTCACGAAGGAAAAAAGGGGTGGGATGGGGAGTGCGGGGAAGAGGGGAGGGCTAAACAAAGTTAAACAATTTTACTCAAAAACAAACAAACAAACAAACAAAAAAACCCCCCAAAACCAGTAACTTCAATGCTGTGTGTGCTGGAAACTAATACAAATAAAATAAAAGTTAAACAGCTTGACTCAAACACTCCTGAGAGGTTTCCACACACAAAAAGGACTCTGGCTCTCAGAGGGACACAAGTCTTCTAGACCCCTGCTCTGTGAGTCGCGCTCCTAGAAACACTGTTCCATGTGGTTCCAGGGTTCCTCCCAGCAACGCAAATAAATTTCTGCTGCTTCCATCTTCCCATTTCTGAGCTATTATCAATGCTTGAGGACCAAGGTAATACTGTTAATAATTATTCCAACCCAGACACCATTAGTGAGCTGATATTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCCCATTCTAGAAACACTCTGGACAAGGGGGAGAGCCTCTGCAGCCTCCCACGGGATGCACCCACTGACTGAAGCCCACCCCACTCTAGAAACACTCTGCACAAGGGGGAGAGCCTCTGTAACGTCCTGCGGGATGCACCCACCGACTGAAGCCCACCCCACTCTACAAACACTCTGCACAAGGGGGAGAGCCTTTGCGACCTCCCGTGGATGCACCTACCGACTGACTGGCCAGCAGAGTAGGAATCCGTCCTCGTTCGGGATCGCTTGTTGCCTTTGGTATTTGCTAGGGAGAGAAATAAAGAGTATTGAAACATGCTTCAAATTTTGACTTGAAAGAAACTTGGTTATTTTCTTCCAGTCATAAAAATATAATTGTTCGTAAAGCTATAGCCCCAAAAAAAGAGATGACAGACATATTACTCAGGAATAAGTGGGTGGGTATTAGCATGGGATGTGAAACCCAGGGGGACACTCTATACTGTTGATTTGGACTTAGACAATGTAATACAGATAATATAAGGTCAAAGTATGATTTAATTTCAATGGATTAGAAGCTCTTTTGGTGAACATCCCCTAAGGTGGCAGAACAAAGGGTAGATGAAGATACTGCTGTCCCAAATCATAACTGTTTGCGTTTCTTATTAAAATTTCAGCTTACTACTCTATATAAAGCCCAGAGAAAAATCACTAGGATACTTGGTTAATACTGAAGAATATTTTAGTATCTAAATTGATAATGGCATTTTCTGTTTTAGTTAATAAAAATACTTGAAGTTCTTTTCCAGGTGTCAGAGTTACTCTGTGCAAATGTAATGCAATAGCTCTGCAATGTATCCCAGGCTGCAGGCTTGAAGGGGCATAGGTTTGTAAAATGTTATGTGCTGGATATTGCTAATTTGGGAGGCTGCCAACCCCAGCTTCCACACACTTGATTTTATTTTTTATTTGTTTTCTTTTATTTTTAAAATTAAATTTTTTATTTTTTTATTTTTTTGAGACAAGGTCTCACGCTGTCACCTAGGCTAGAGTGCAGCAGTGGCATGATCATAGCTCACTGTGCCTCAACCTCCCAGGCTCAGGTGATCCTCCTGCCTCTGCCTCCTGAGCAGGTAGGACCACCGGCATGTGCCACTGTACCCACCTTAATATGGTTTGGCTGTGTCCCCACCCAAAATCTCATCTTGAACTGCAATTCGAATTGTAATCCCCATGTGTTGTGGGAGGGACCTCATGGGAGGTGATTAGATCATGGGGATGGTTCCTCCATGCTGTTCTCGTGATAGTGACTGAGTTCTCATGAGATCTGGTGGTTTTATAAGGGGCTTTTCTCCCCTTCACTCTGTACTTCTCTCTTCTGCCCCCAAGTGAAGAAGGAAGTGTTTGCTTCCCCTCCCACCATGATTGTAAGTTTCCTGAGTTCTCCCCAGCCAAGCAGAACTGTGAGTCAATTAAACCTCTTTCCTTTATAAATTACCCAGTCTCAGGCAGTTCTTTATAACAGCGTGAGAACAGACTAATACATGCCTAATTTTTTCAGTTTTTGCAGAAAGGGGTCTTACTATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAACTCCTCTGCCTTGGCCTCCCAAAATGTTAGGATTACAGGTGTGAGCCACTGAGCTCAGCTCCCAGGCACTTGATGATACTCACTGTCCATCAGCCTCCAGTTCAGCAAGGGGTCATAGACAAAGGCTTCCAGCACGGCCATGACACTGTCCTTGTGCTCTCGCAGCACCTCCATCACTGTGTGGCATGTGATTCTGTAGTTGCCATCCAGGCCTGTAACCTAGAAATGGGACAGAGCCACTCACCACAGGAGTTACTAACTCTCCACCCAAAGCAAGCCGAGGGGGTCTGTTACCCTCACTTAGGAAGCAGACACAGGCCATGTTGACGTATCAGGGTGAGAATGTCTTAGGAGAAGGAATCAGGGCAGGACTGTGATCCACAGGAAACCAGGTCAGAAGTGAAGTGGTAAGCCTTTCATAGATAGGTCATTTCTAACACAATAGGAAATAACAGAAAACTGCTACAAAAATCACAAAGGCACTTTGGAGAACTGATGGGCTCTAACAAGCGTGTTCTCAGAAGGCTGTAACTGTCCTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGGAGCCAGGTGGAGCA
|
AACCAAATCCACCACCATCTGGTGCCAGCAGAACTGGCTGTCCTAGTTCCCTTCTGTATGCTACAGACAGCATATAGTAGCCACTTGAGAATTGTTAGGGAGGTGGGCCCTGAGAATGAAGCCAGTAAGTCTCAGCACACTTCGTTTGAGACCAGCCACCAGTATAAGCTCCCCCAGAGACTGTGTGTCCTATGAGCCTGGTGATTCAGGCATTCACAAATCCTGTCACAGTGTCCATGTATGACATTATAAGCCAGTATCCCAATTTCTTGCCTGAAACACCCTTTTCCTTTCTACCCATCAGATTCCACCCATCCAATAAGGATAAATTACCCTTTGGCAAGGTGGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACGTGGTGAAACCCTATCTCTACTAAAAATTCAAAAAAATTAGCTGAGCATGGTGGCATGCGTCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACTCGGGAGGCAGAGGTTGCAGCGAGCCGAGACTGCGCCACCATACTCCAGCCTGGGTGACAAAGCGAGACTCTGTCTCAAGAAAAAAAAAAAAAAAAGAAAGAAAAATTACCCTTTGTCAGGTGAAGTGATGGTTAGATGCCACCAACCCAAGTGCTCTCTTCGCAGCTACGGTTCACAGTGAAGTCCCCTTTTCTGAATCTCCACAGCCCTACTCCACACGAAAGCACCCGCAGGCTCCACGGCAGAGTCTCCTGCTCTCTGACTATTTCACGCAGGTTATGGTCAATTCTGTAATGCTTTCTGTGCTTCTTCAGGCGACCACTGTACCTCACATTTTCTTTTTGCACCCCTAGACATTATTTGGCTTAGTTTATTAACTAGTTGTAAGTGCTCTGTAAACATTTGTAGAAAAGATATACTTTTTTACACCCTAACAGTAATTCCCAAAGTATGAACTATGTAGGGTGTTGCTAAATGTCACGAAGGAAAAAAGGGGTGGGATGGGGAGTGCGGGGAAGAGGGGAGGGCTAAACAAAGTTAAACAATTTTACTCAAAAACAAACAAACAAACAAACAAAAAAACCCCCCAAAACCAGTAACTTCAATGCTGTGTGTGCTGGAAACTAATACAAATAAAATAAAAGTTAAACAGCTTGACTCAAACACTCCTGAGAGGTTTCCACACACAAAAAGGACTCTGGCTCTCAGAGGGACACAAGTCTTCTAGACCCCTGCTCTGTGAGTCGCGCTCCTAGAAACACTGTTCCATGTGGTTCCAGGGTTCCTCCCAGCAACGCAAATAAATTTCTGCTGCTTCCATCTTCCCATTTCTGAGCTATTATCAATGCTTGAGGACCAAGGTAATACTGTTAATAATTATTCCAACCCAGACACCATTAGTGAGCTGATATTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCCCATTCTAGAAACACTCTGGACAAGGGGGAGAGCCTCTGCAGCCTCCCACGGGATGCACCCACTGACTGAAGCCCACCCCACTCTAGAAACACTCTGCACAAGGGGGAGAGCCTCTGTAACGTCCTGCGGGATGCACCCACCGACTGAAGCCCACCCCACTCTACAAACACTCTGCACAAGGGGGAGAGCCTTTGCGACCTCCCGTGGATGCACCTACCGACTGACTGGCCAGCAGAGTAGGAATCCGTCCTCGTTCGGGATCGCTTGTTGCCTTTGTTGGTATTTGCTAGGGAGAGAAATAAAGAGTATTGAAACATGCTTCAAATTTTGACTTGAAAGAAACTTGGTTATTTTCTTCCAGTCATAAAAATATAATTGTTCGTAAAGCTATAGCCCCAAAAAAAGAGATGACAGACATATTACTCAGGAATAAGTGGGTGGGTATTAGCATGGGATGTGAAACCCAGGGGGACACTCTATACTGTTGATTTGGACTTAGACAATGTAATACAGATAATATAAGGTCAAAGTATGATTTAATTTCAATGGATTAGAAGCTCTTTTGGTGAACATCCCCTAAGGTGGCAGAACAAAGGGTAGATGAAGATACTGCTGTCCCAAATCATAACTGTTTGCGTTTCTTATTAAAATTTCAGCTTACTACTCTATATAAAGCCCAGAGAAAAATCACTAGGATACTTGGTTAATACTGAAGAATATTTTAGTATCTAAATTGATAATGGCATTTTCTGTTTTAGTTAATAAAAATACTTGAAGTTCTTTTCCAGGTGTCAGAGTTACTCTGTGCAAATGTAATGCAATAGCTCTGCAATGTATCCCAGGCTGCAGGCTTGAAGGGGCATAGGTTTGTAAAATGTTATGTGCTGGATATTGCTAATTTGGGAGGCTGCCAACCCCAGCTTCCACACACTTGATTTTATTTTTTATTTGTTTTCTTTTATTTTTAAAATTAAATTTTTTATTTTTTTATTTTTTTGAGACAAGGTCTCACGCTGTCACCTAGGCTAGAGTGCAGCAGTGGCATGATCATAGCTCACTGTGCCTCAACCTCCCAGGCTCAGGTGATCCTCCTGCCTCTGCCTCCTGAGCAGGTAGGACCACCGGCATGTGCCACTGTACCCACCTTAATATGGTTTGGCTGTGTCCCCACCCAAAATCTCATCTTGAACTGCAATTCGAATTGTAATCCCCATGTGTTGTGGGAGGGACCTCATGGGAGGTGATTAGATCATGGGGATGGTTCCTCCATGCTGTTCTCGTGATAGTGACTGAGTTCTCATGAGATCTGGTGGTTTTATAAGGGGCTTTTCTCCCCTTCACTCTGTACTTCTCTCTTCTGCCCCCAAGTGAAGAAGGAAGTGTTTGCTTCCCCTCCCACCATGATTGTAAGTTTCCTGAGTTCTCCCCAGCCAAGCAGAACTGTGAGTCAATTAAACCTCTTTCCTTTATAAATTACCCAGTCTCAGGCAGTTCTTTATAACAGCGTGAGAACAGACTAATACATGCCTAATTTTTTCAGTTTTTGCAGAAAGGGGTCTTACTATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAACTCCTCTGCCTTGGCCTCCCAAAATGTTAGGATTACAGGTGTGAGCCACTGAGCTCAGCTCCCAGGCACTTGATGATACTCACTGTCCATCAGCCTCCAGTTCAGCAAGGGGTCATAGACAAAGGCTTCCAGCACGGCCATGACACTGTCCTTGTGCTCTCGCAGCACCTCCATCACTGTGTGGCATGTGATTCTGTAGTTGCCATCCAGGCCTGTAACCTAGAAATGGGACAGAGCCACTCACCACAGGAGTTACTAACTCTCCACCCAAAGCAAGCCGAGGGGGTCTGTTACCCTCACTTAGGAAGCAGACACAGGCCATGTTGACGTATCAGGGTGAGAATGTCTTAGGAGAAGGAATCAGGGCAGGACTGTGATCCACAGGAAACCAGGTCAGAAGTGAAGTGGTAAGCCTTTCATAGATAGGTCATTTCTAACACAATAGGAAATAACAGAAAACTGCTACAAAAATCACAAAGGCACTTTGGAGAACTGATGGGCTCTAACAAGCGTGTTCTCAGAAGGCTGTAACTGTCCTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGGAGCCAGGTGGA
|
benign
| 2,535 |
Evaluate the clinical significance of the mutation at chromosome 1, position 11130640 in gene MTOR (mechanistic target of rapamycin kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
TGAAACAACTAGTTATTCTTCTAGGCAAAGATCAATTCTTTTAACTTGTTTCGGTTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCTCTAAGGCTCCTGAGAAGAGAGCTGGCAGGGACTCCAACCAGTAACTCTCAAATGTGTTTGGCCTCCCATGGGAGCAGGTGTCTGTGATGGGTGGCAGTGCTCTTGACTGAACACCGTAAGAGTCACCCTGAGCAAATGAGCATTTCATCCCAGGTCACCGAGGGGTCACCATGGCATGTATGCAAACATCAAACAGACGAGCCAGGATAACCTTTAGAAAGCCACAAGTCTGCACATGTAAGAGTCGCTGTACGGCAGAGGCAACAGGGACACCTGGCTCTTAGCTGGCTGGAGATCCTCAAATGAAGGAGGATGTGGACCTTGTCACCTTTACCCTCTGGGTTAACTGATTTGAGTCATTTGTTTAGACCTCTCCAAGTTGCTGAGGGATTTTAGAAATACTGTGACTTCAATAGGCAACAGGGTGGTCAGAAAAAAAGAAATATTGTGATTAACAGATGGGTTAATAATCCCTCCATAATAAACCACACATGGAGAGTTCTCACTCCACTTCTCCTCCTCACTCTCTGTAGGTTTCACCCACACAGGTGGGGCCCAGTCAGCTGTTACTCCTTAAATGCAGTGCAGAAAAAAGGCACATACATCGATCTTGGGTGTCCTGATCAGGGTCAGGAAGGGAAAGAGGACTTTTACGTGTGACTTCTAGGTCTTGCCATTAACATGGCCTACCAGAGTTGCATCCTTCCCTTCTCTGATACCTGAGTGTATCCTGGAGGTTGTTGCCTCGTGACAAGGAGATGGAACGGAAGAAGCCCTGGACGGCAGGCACCGTGTACATCAGGAGGGTTTTGGACAGATCCTGTTGGAACACACACGTGTTAGCGACACTCTTGCCTCTGCTTTCTCATCTGTAAAATGGGCATAAGAGCATACTAACTGTACCTACTTCAAAGGGTGGTTATAACAATTAAATCGGTTAATGCATGAAAAATCTTTAATCATTACCTGGCACATAGCAAAGACTCAATAAATGGCAACTGTATCATAACTGTTATTATCTTGGGCTGACAGTGGCTTCCTGAACAGGATGGAGGGAGGAGGTGGAGCTGAGGCTCTGAACACCCGGATCTCTGGGCCTGCCAGCGGCCCTGGCGCATTCTGAACTGACAGCCCAAGGGGAAGGGGAAGAAGTGGAAGTGGAGAGAAAAAGGCAGAGGATGGACCTCCCAAGCCCCATCCTCAGAGTGGACCCGCAGCTGTGTACAGCCACCCACACACAGGTGCAGCACGTAGAGAATGAGCTCGTCCACAGGGAAGCTTGACAAGGAGCTTGCTCTTCAGCATAGAGGCTGCGTCAGCTCCCCAAACACAAATATTCACACACAAAGCCCTATCTCAGGCAGTGCTGGATGGTAGATAGGCAGTATTTTCCAGCTCCATCTGGCACTTCAGATACAGCCTCAGGTTCCTTTTAAGCTTAACAACGATTCCATTTCTCAGAGAGCCTGGCACCTTGGTTGGTTGTTAATAAGGAAGAAGGGAAGGGTACCTCAGTGACCTTCTTCTGCAGCGGCGATGGGGTGGGGCTGTTCTCGGTGCTCTCGGCCTCGCTCTCACTGTTGCTGCCCTCGGTGCTGGCAGTGGTGGTGGCAGTGGCGGCCGTGGTGGCGGCAGTGGTGGCGTTGGTGATGTTGGCCCCGCTGGCATGACGCAGTTTCTTCTTCTCATCGCGGGCTTGGTTCTGATGTTTGTAGTGTAGCACAGCTTCGAAGTTCATCACTGCCCACGCATGCCAGGCCTGGTTGGGGAGAAAGGCAAGGACAGACACTGGAGCTGTGACCAACAGCAGGGCTCAGAGGAGCGCAAGGTCGATGCTGAGGAACAGCTGCTCCTGCCTGTTCTGTGTGTCCATAAAGCAAACACTTCAAGGAGACACTCAGAAATGGCTGTTTTACTAAATTCAACATGATCCACTCACTTTGTGGAGCACTAACTATATAACGTACTATGAGTGCACTGCGAGAAGGGCACAGCAAGAGGAGCAGGAGAGAGCTCTTGCCTCAAGGGATCTCCCGGCCTCCTAGGGGAGCTCACGCACAAACCTGAAGACCTAGGTACTCTGCAAGGCACAATGGGAGTAGCAAGGACAGGCATTTGGAAAGCTTTGTCAAGAAGAGGGATTTGGGGTAGGTCTGGAAGAGAGCTGCAGAAGGGCAAGGAGGGAAACAAGAAGGCAGCGGTGGGGACTACTTGGCAAGGGGGAAGAATAAGGCCAGAGATGTGCAGATTGGTTCACGGGAAACAAGCCCATGAATGTGACCGTGCAGGGGATACATGCAGGCGAGGAGTGAGAGCGAGGCCAGCAAAGCACGCCTGGAGCAGGCACAGGGCTGGCACTTTCACCCAGAAAGCAGAGCTGCACTGGGTATAAAGTGTACATTTAGGGGAGAGCAGAAATGGCAAGCAGAAGTGGGGGCAAGCAGCAGTCATCACAATATTTCAAGGGAGCAAAGTTTTGACAGGTCACCAGATAGTGGACAAAGGAAGACATGAAGAGCATAGGAGCCTGACAGAGAAAGAATCTCACCCATCTGCCTGGTCCCAACACCTAGCCCACGGCCTGACAGAGAACCAGTGCTCAATGCTTGAAGGAAGAACCGCTGGTGCTTATTTGGATAAAGGAATACTACTCTCTCTGGGGTTCTGAGCGGCAATGACTCTACAGCGTACCACCACTTGGTTTAGCGAGTGTGAGGCAGAGTTTGCTTCCAGGCATGGTAACTTTGCAGTGATAGTAGGACACTACGTGACCCATTAATAGCTGAACTTTCTGAATAATTGGGAAATTCGTTTGTATGCCTTGCCAAAAACCTTGAACACAGGTGTATCCGTTTTCTCAACTAAGGAGAATAGATTGATCACAACTAACCTTTACTTGATGAGTAAGAATTCTACAATGACCCAGGTTTCAGTTTTCCCATACCTTCATTTATTCACTGAATATCTCTTGTGTATCTGCTATGTGCCTGGCAATGACCTGGGGTCAAGGTGAACAAGACAAACAGTCCTGGCATGCATACAGGGCCATGACGTTGATGGTAGAATACATCATAAAACAAAAGGGACCCACATTAGGAAAAGCTTTTAAAAACTAAAACTAAAGTTCCTGAAACCAACTTTTTTCTTGTGATTTGCTTACTTCCTAAAAGCTTAATGAATGAAAGTAACTCTGGTTAGAATACAACTCTGATTAATAAGCTTCCAGTTAATAGTGTTTACCGGATGTATTTTCCAGCTTTGGACATGCAAGCTGTCCTAGAGAGAGTATTACTCTTATGACAAAATGGACATTTTTCAAACCAGAATGAAGCATGCCTAAACAAAGGTAAGATCTGTATTATAAGTGCTTCTGCAGTCCTCAGATACAAGTTTAGATTTCAGAGAGATTAATTCACAAAGTATTGGCAAGCCAAGGAAATACTGGAAAGATGTCAATGACATCTGCCACACCAAGTAGTTACCAGAAAGCCTCTCAAAAAGAAATAAGAAAGTATATTCTCACCAAAGATATACACTTCCAAAAATCACCCCTCCATCAATCACATCTTTTATATATTTTCTAATTCTGTTTATCTCTTTCAAAAGTTTCCTGTAACATAACAGGATGTTACTTGGATCTTTCCAATAAAAACAAAGAAAGTTAAGTTC
|
TGAAACAACTAGTTATTCTTCTAGGCAAAGATCAATTCTTTTAACTTGTTTCGGTTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCTCTAAGGCTCCTGAGAAGAGAGCTGGCAGGGACTCCAACCAGTAACTCTCAAATGTGTTTGGCCTCCCATGGGAGCAGGTGTCTGTGATGGGTGGCAGTGCTCTTGACTGAACACCGTAAGAGTCACCCTGAGCAAATGAGCATTTCATCCCAGGTCACCGAGGGGTCACCATGGCATGTATGCAAACATCAAACAGACGAGCCAGGATAACCTTTAGAAAGCCACAAGTCTGCACATGTAAGAGTCGCTGTACGGCAGAGGCAACAGGGACACCTGGCTCTTAGCTGGCTGGAGATCCTCAAATGAAGGAGGATGTGGACCTTGTCACCTTTACCCTCTGGGTTAACTGATTTGAGTCATTTGTTTAGACCTCTCCAAGTTGCTGAGGGATTTTAGAAATACTGTGACTTCAATAGGCAACAGGGTGGTCAGAAAAAAAGAAATATTGTGATTAACAGATGGGTTAATAATCCCTCCATAATAAACCACACATGGAGAGTTCTCACTCCACTTCTCCTCCTCACTCTCTGTAGGTTTCACCCACACAGGTGGGGCCCAGTCAGCTGTTACTCCTTAAATGCAGTGCAGAAAAAAGGCACATACATCGATCTTGGGTGTCCTGATCAGGGTCAGGAAGGGAAAGAGGACTTTTACGTGTGACTTCTAGGTCTTGCCATTAACATGGCCTACCAGAGTTGCATCCTTCCCTTCTCTGATACCTGAGTGTATCCTGGAGGTTGTTGCCTCGTGACAAGGAGATGGAACGGAAGAAGCCCTGGACGGCAGGCACCGTGTACATCAGGAGGGTTTTGGACAGATCCTGTTGGAACACACACGTGTTAGCGACACTCTTGCCTCTGCTTTCTCATCTGTAAAATGGGCATAAGAGCATACTAACTGTACCTACTTCAAAGGGTGGTTATAACAATTAAATCGGTTAATGCATGAAAAATCTTTAATCATTACCTGGCACATAGCAAAGACTCAATAAATGGCAACTGTATCATAACTGTTATTATCTTGGGCTGACAGTGGCTTCCTGAACAGGATGGAGGGAGGAGGTGGAGCTGAGGCTCTGAACACCCGGATCTCTGGGCCTGCCAGCGGCCCTGGCGCATTCTGAACTGACAGCCCAAGGGGAAGGGGAAGAAGTGGAAGTGGAGAGAAAAAGGCAGAGGATGGACCTCCCAAGCCCCATCCTCAGAGTGGACCCGCAGCTGTGTACAGCCACCCACACACAGGTGCAGCACGTAGAGAATGAGCTCGTCCACAGGGAAGCTTGACAAGGAGCTTGCTCTTCAGCATAGAGGCTGCGTCAGCTCCCCAAACACAAATATTCACACACAAAGCCCTATCTCAGGCAGTGCTGGATGGTAGATAGGCAGTATTTTCCAGCTCCATCTGGCACTTCAGATACAGCCTCAGGTTCCTTTTAAGCTTAACAACGATTCCATTTCTCAGAGAGCCTGGCACCTTGGTTGGTTGTTAATAAGGAAGAAGGGAAGGGTACCTCAGTGACCTTCTTCTGCAGCGGCGATGGGGTGGGGCTGTTCTCGGTGCTCTCGGCCTCGCTCTCACTGTTGCTGCCCTCGGTGCTGGCAGTGGTGGTGGCAGTGGCGGCCGTGGTGGCGTTGGTGATGTTGGCCCCGCTGGCATGACGCAGTTTCTTCTTCTCATCGCGGGCTTGGTTCTGATGTTTGTAGTGTAGCACAGCTTCGAAGTTCATCACTGCCCACGCATGCCAGGCCTGGTTGGGGAGAAAGGCAAGGACAGACACTGGAGCTGTGACCAACAGCAGGGCTCAGAGGAGCGCAAGGTCGATGCTGAGGAACAGCTGCTCCTGCCTGTTCTGTGTGTCCATAAAGCAAACACTTCAAGGAGACACTCAGAAATGGCTGTTTTACTAAATTCAACATGATCCACTCACTTTGTGGAGCACTAACTATATAACGTACTATGAGTGCACTGCGAGAAGGGCACAGCAAGAGGAGCAGGAGAGAGCTCTTGCCTCAAGGGATCTCCCGGCCTCCTAGGGGAGCTCACGCACAAACCTGAAGACCTAGGTACTCTGCAAGGCACAATGGGAGTAGCAAGGACAGGCATTTGGAAAGCTTTGTCAAGAAGAGGGATTTGGGGTAGGTCTGGAAGAGAGCTGCAGAAGGGCAAGGAGGGAAACAAGAAGGCAGCGGTGGGGACTACTTGGCAAGGGGGAAGAATAAGGCCAGAGATGTGCAGATTGGTTCACGGGAAACAAGCCCATGAATGTGACCGTGCAGGGGATACATGCAGGCGAGGAGTGAGAGCGAGGCCAGCAAAGCACGCCTGGAGCAGGCACAGGGCTGGCACTTTCACCCAGAAAGCAGAGCTGCACTGGGTATAAAGTGTACATTTAGGGGAGAGCAGAAATGGCAAGCAGAAGTGGGGGCAAGCAGCAGTCATCACAATATTTCAAGGGAGCAAAGTTTTGACAGGTCACCAGATAGTGGACAAAGGAAGACATGAAGAGCATAGGAGCCTGACAGAGAAAGAATCTCACCCATCTGCCTGGTCCCAACACCTAGCCCACGGCCTGACAGAGAACCAGTGCTCAATGCTTGAAGGAAGAACCGCTGGTGCTTATTTGGATAAAGGAATACTACTCTCTCTGGGGTTCTGAGCGGCAATGACTCTACAGCGTACCACCACTTGGTTTAGCGAGTGTGAGGCAGAGTTTGCTTCCAGGCATGGTAACTTTGCAGTGATAGTAGGACACTACGTGACCCATTAATAGCTGAACTTTCTGAATAATTGGGAAATTCGTTTGTATGCCTTGCCAAAAACCTTGAACACAGGTGTATCCGTTTTCTCAACTAAGGAGAATAGATTGATCACAACTAACCTTTACTTGATGAGTAAGAATTCTACAATGACCCAGGTTTCAGTTTTCCCATACCTTCATTTATTCACTGAATATCTCTTGTGTATCTGCTATGTGCCTGGCAATGACCTGGGGTCAAGGTGAACAAGACAAACAGTCCTGGCATGCATACAGGGCCATGACGTTGATGGTAGAATACATCATAAAACAAAAGGGACCCACATTAGGAAAAGCTTTTAAAAACTAAAACTAAAGTTCCTGAAACCAACTTTTTTCTTGTGATTTGCTTACTTCCTAAAAGCTTAATGAATGAAAGTAACTCTGGTTAGAATACAACTCTGATTAATAAGCTTCCAGTTAATAGTGTTTACCGGATGTATTTTCCAGCTTTGGACATGCAAGCTGTCCTAGAGAGAGTATTACTCTTATGACAAAATGGACATTTTTCAAACCAGAATGAAGCATGCCTAAACAAAGGTAAGATCTGTATTATAAGTGCTTCTGCAGTCCTCAGATACAAGTTTAGATTTCAGAGAGATTAATTCACAAAGTATTGGCAAGCCAAGGAAATACTGGAAAGATGTCAATGACATCTGCCACACCAAGTAGTTACCAGAAAGCCTCTCAAAAAGAAATAAGAAAGTATATTCTCACCAAAGATATACACTTCCAAAAATCACCCCTCCATCAATCACATCTTTTATATATTTTCTAATTCTGTTTATCTCTTTCAAAAGTTTCCTGTAACATAACAGGATGTTACTTGGATCTTTCCAATAAAAACAAAGAAAGTTAAGTTCNNNNNNNNNNNN
|
benign
| 2,602 |
Evaluate the clinical significance of the mutation at chromosome 1, position 11130694 in gene MTOR (mechanistic target of rapamycin kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
TTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCTCTAAGGCTCCTGAGAAGAGAGCTGGCAGGGACTCCAACCAGTAACTCTCAAATGTGTTTGGCCTCCCATGGGAGCAGGTGTCTGTGATGGGTGGCAGTGCTCTTGACTGAACACCGTAAGAGTCACCCTGAGCAAATGAGCATTTCATCCCAGGTCACCGAGGGGTCACCATGGCATGTATGCAAACATCAAACAGACGAGCCAGGATAACCTTTAGAAAGCCACAAGTCTGCACATGTAAGAGTCGCTGTACGGCAGAGGCAACAGGGACACCTGGCTCTTAGCTGGCTGGAGATCCTCAAATGAAGGAGGATGTGGACCTTGTCACCTTTACCCTCTGGGTTAACTGATTTGAGTCATTTGTTTAGACCTCTCCAAGTTGCTGAGGGATTTTAGAAATACTGTGACTTCAATAGGCAACAGGGTGGTCAGAAAAAAAGAAATATTGTGATTAACAGATGGGTTAATAATCCCTCCATAATAAACCACACATGGAGAGTTCTCACTCCACTTCTCCTCCTCACTCTCTGTAGGTTTCACCCACACAGGTGGGGCCCAGTCAGCTGTTACTCCTTAAATGCAGTGCAGAAAAAAGGCACATACATCGATCTTGGGTGTCCTGATCAGGGTCAGGAAGGGAAAGAGGACTTTTACGTGTGACTTCTAGGTCTTGCCATTAACATGGCCTACCAGAGTTGCATCCTTCCCTTCTCTGATACCTGAGTGTATCCTGGAGGTTGTTGCCTCGTGACAAGGAGATGGAACGGAAGAAGCCCTGGACGGCAGGCACCGTGTACATCAGGAGGGTTTTGGACAGATCCTGTTGGAACACACACGTGTTAGCGACACTCTTGCCTCTGCTTTCTCATCTGTAAAATGGGCATAAGAGCATACTAACTGTACCTACTTCAAAGGGTGGTTATAACAATTAAATCGGTTAATGCATGAAAAATCTTTAATCATTACCTGGCACATAGCAAAGACTCAATAAATGGCAACTGTATCATAACTGTTATTATCTTGGGCTGACAGTGGCTTCCTGAACAGGATGGAGGGAGGAGGTGGAGCTGAGGCTCTGAACACCCGGATCTCTGGGCCTGCCAGCGGCCCTGGCGCATTCTGAACTGACAGCCCAAGGGGAAGGGGAAGAAGTGGAAGTGGAGAGAAAAAGGCAGAGGATGGACCTCCCAAGCCCCATCCTCAGAGTGGACCCGCAGCTGTGTACAGCCACCCACACACAGGTGCAGCACGTAGAGAATGAGCTCGTCCACAGGGAAGCTTGACAAGGAGCTTGCTCTTCAGCATAGAGGCTGCGTCAGCTCCCCAAACACAAATATTCACACACAAAGCCCTATCTCAGGCAGTGCTGGATGGTAGATAGGCAGTATTTTCCAGCTCCATCTGGCACTTCAGATACAGCCTCAGGTTCCTTTTAAGCTTAACAACGATTCCATTTCTCAGAGAGCCTGGCACCTTGGTTGGTTGTTAATAAGGAAGAAGGGAAGGGTACCTCAGTGACCTTCTTCTGCAGCGGCGATGGGGTGGGGCTGTTCTCGGTGCTCTCGGCCTCGCTCTCACTGTTGCTGCCCTCGGTGCTGGCAGTGGTGGTGGCAGTGGCGGCCGTGGTGGCGGCAGTGGTGGCGTTGGTGATGTTGGCCCCGCTGGCATGACGCAGTTTCTTCTTCTCATCGCGGGCTTGGTTCTGATGTTTGTAGTGTAGCACAGCTTCGAAGTTCATCACTGCCCACGCATGCCAGGCCTGGTTGGGGAGAAAGGCAAGGACAGACACTGGAGCTGTGACCAACAGCAGGGCTCAGAGGAGCGCAAGGTCGATGCTGAGGAACAGCTGCTCCTGCCTGTTCTGTGTGTCCATAAAGCAAACACTTCAAGGAGACACTCAGAAATGGCTGTTTTACTAAATTCAACATGATCCACTCACTTTGTGGAGCACTAACTATATAACGTACTATGAGTGCACTGCGAGAAGGGCACAGCAAGAGGAGCAGGAGAGAGCTCTTGCCTCAAGGGATCTCCCGGCCTCCTAGGGGAGCTCACGCACAAACCTGAAGACCTAGGTACTCTGCAAGGCACAATGGGAGTAGCAAGGACAGGCATTTGGAAAGCTTTGTCAAGAAGAGGGATTTGGGGTAGGTCTGGAAGAGAGCTGCAGAAGGGCAAGGAGGGAAACAAGAAGGCAGCGGTGGGGACTACTTGGCAAGGGGGAAGAATAAGGCCAGAGATGTGCAGATTGGTTCACGGGAAACAAGCCCATGAATGTGACCGTGCAGGGGATACATGCAGGCGAGGAGTGAGAGCGAGGCCAGCAAAGCACGCCTGGAGCAGGCACAGGGCTGGCACTTTCACCCAGAAAGCAGAGCTGCACTGGGTATAAAGTGTACATTTAGGGGAGAGCAGAAATGGCAAGCAGAAGTGGGGGCAAGCAGCAGTCATCACAATATTTCAAGGGAGCAAAGTTTTGACAGGTCACCAGATAGTGGACAAAGGAAGACATGAAGAGCATAGGAGCCTGACAGAGAAAGAATCTCACCCATCTGCCTGGTCCCAACACCTAGCCCACGGCCTGACAGAGAACCAGTGCTCAATGCTTGAAGGAAGAACCGCTGGTGCTTATTTGGATAAAGGAATACTACTCTCTCTGGGGTTCTGAGCGGCAATGACTCTACAGCGTACCACCACTTGGTTTAGCGAGTGTGAGGCAGAGTTTGCTTCCAGGCATGGTAACTTTGCAGTGATAGTAGGACACTACGTGACCCATTAATAGCTGAACTTTCTGAATAATTGGGAAATTCGTTTGTATGCCTTGCCAAAAACCTTGAACACAGGTGTATCCGTTTTCTCAACTAAGGAGAATAGATTGATCACAACTAACCTTTACTTGATGAGTAAGAATTCTACAATGACCCAGGTTTCAGTTTTCCCATACCTTCATTTATTCACTGAATATCTCTTGTGTATCTGCTATGTGCCTGGCAATGACCTGGGGTCAAGGTGAACAAGACAAACAGTCCTGGCATGCATACAGGGCCATGACGTTGATGGTAGAATACATCATAAAACAAAAGGGACCCACATTAGGAAAAGCTTTTAAAAACTAAAACTAAAGTTCCTGAAACCAACTTTTTTCTTGTGATTTGCTTACTTCCTAAAAGCTTAATGAATGAAAGTAACTCTGGTTAGAATACAACTCTGATTAATAAGCTTCCAGTTAATAGTGTTTACCGGATGTATTTTCCAGCTTTGGACATGCAAGCTGTCCTAGAGAGAGTATTACTCTTATGACAAAATGGACATTTTTCAAACCAGAATGAAGCATGCCTAAACAAAGGTAAGATCTGTATTATAAGTGCTTCTGCAGTCCTCAGATACAAGTTTAGATTTCAGAGAGATTAATTCACAAAGTATTGGCAAGCCAAGGAAATACTGGAAAGATGTCAATGACATCTGCCACACCAAGTAGTTACCAGAAAGCCTCTCAAAAAGAAATAAGAAAGTATATTCTCACCAAAGATATACACTTCCAAAAATCACCCCTCCATCAATCACATCTTTTATATATTTTCTAATTCTGTTTATCTCTTTCAAAAGTTTCCTGTAACATAACAGGATGTTACTTGGATCTTTCCAATAAAAACAAAGAAAGTTAAGTTCTTAGCTGAGGAGCAGGCAAGGATGCAAATCAGAAAAACGCTGAACAAGAACAGA
|
TTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCTCTAAGGCTCCTGAGAAGAGAGCTGGCAGGGACTCCAACCAGTAACTCTCAAATGTGTTTGGCCTCCCATGGGAGCAGGTGTCTGTGATGGGTGGCAGTGCTCTTGACTGAACACCGTAAGAGTCACCCTGAGCAAATGAGCATTTCATCCCAGGTCACCGAGGGGTCACCATGGCATGTATGCAAACATCAAACAGACGAGCCAGGATAACCTTTAGAAAGCCACAAGTCTGCACATGTAAGAGTCGCTGTACGGCAGAGGCAACAGGGACACCTGGCTCTTAGCTGGCTGGAGATCCTCAAATGAAGGAGGATGTGGACCTTGTCACCTTTACCCTCTGGGTTAACTGATTTGAGTCATTTGTTTAGACCTCTCCAAGTTGCTGAGGGATTTTAGAAATACTGTGACTTCAATAGGCAACAGGGTGGTCAGAAAAAAAGAAATATTGTGATTAACAGATGGGTTAATAATCCCTCCATAATAAACCACACATGGAGAGTTCTCACTCCACTTCTCCTCCTCACTCTCTGTAGGTTTCACCCACACAGGTGGGGCCCAGTCAGCTGTTACTCCTTAAATGCAGTGCAGAAAAAAGGCACATACATCGATCTTGGGTGTCCTGATCAGGGTCAGGAAGGGAAAGAGGACTTTTACGTGTGACTTCTAGGTCTTGCCATTAACATGGCCTACCAGAGTTGCATCCTTCCCTTCTCTGATACCTGAGTGTATCCTGGAGGTTGTTGCCTCGTGACAAGGAGATGGAACGGAAGAAGCCCTGGACGGCAGGCACCGTGTACATCAGGAGGGTTTTGGACAGATCCTGTTGGAACACACACGTGTTAGCGACACTCTTGCCTCTGCTTTCTCATCTGTAAAATGGGCATAAGAGCATACTAACTGTACCTACTTCAAAGGGTGGTTATAACAATTAAATCGGTTAATGCATGAAAAATCTTTAATCATTACCTGGCACATAGCAAAGACTCAATAAATGGCAACTGTATCATAACTGTTATTATCTTGGGCTGACAGTGGCTTCCTGAACAGGATGGAGGGAGGAGGTGGAGCTGAGGCTCTGAACACCCGGATCTCTGGGCCTGCCAGCGGCCCTGGCGCATTCTGAACTGACAGCCCAAGGGGAAGGGGAAGAAGTGGAAGTGGAGAGAAAAAGGCAGAGGATGGACCTCCCAAGCCCCATCCTCAGAGTGGACCCGCAGCTGTGTACAGCCACCCACACACAGGTGCAGCACGTAGAGAATGAGCTCGTCCACAGGGAAGCTTGACAAGGAGCTTGCTCTTCAGCATAGAGGCTGCGTCAGCTCCCCAAACACAAATATTCACACACAAAGCCCTATCTCAGGCAGTGCTGGATGGTAGATAGGCAGTATTTTCCAGCTCCATCTGGCACTTCAGATACAGCCTCAGGTTCCTTTTAAGCTTAACAACGATTCCATTTCTCAGAGAGCCTGGCACCTTGGTTGGTTGTTAATAAGGAAGAAGGGAAGGGTACCTCAGTGACCTTCTTCTGCAGCGGCGATGGGGTGGGGCTGTTCTCGGTGCTCTCGGCCTCGCTCTCACTGTTGCTGCCCTCGGTGCTGGCAGTGGTGGTGGCAGTGGCGGCCGTGGTGGCGGCAGTGGTGGCGTTGGTGATGTTGGCCCCGCTGGCATGACGCAGTTTCTTCTCATCGCGGGCTTGGTTCTGATGTTTGTAGTGTAGCACAGCTTCGAAGTTCATCACTGCCCACGCATGCCAGGCCTGGTTGGGGAGAAAGGCAAGGACAGACACTGGAGCTGTGACCAACAGCAGGGCTCAGAGGAGCGCAAGGTCGATGCTGAGGAACAGCTGCTCCTGCCTGTTCTGTGTGTCCATAAAGCAAACACTTCAAGGAGACACTCAGAAATGGCTGTTTTACTAAATTCAACATGATCCACTCACTTTGTGGAGCACTAACTATATAACGTACTATGAGTGCACTGCGAGAAGGGCACAGCAAGAGGAGCAGGAGAGAGCTCTTGCCTCAAGGGATCTCCCGGCCTCCTAGGGGAGCTCACGCACAAACCTGAAGACCTAGGTACTCTGCAAGGCACAATGGGAGTAGCAAGGACAGGCATTTGGAAAGCTTTGTCAAGAAGAGGGATTTGGGGTAGGTCTGGAAGAGAGCTGCAGAAGGGCAAGGAGGGAAACAAGAAGGCAGCGGTGGGGACTACTTGGCAAGGGGGAAGAATAAGGCCAGAGATGTGCAGATTGGTTCACGGGAAACAAGCCCATGAATGTGACCGTGCAGGGGATACATGCAGGCGAGGAGTGAGAGCGAGGCCAGCAAAGCACGCCTGGAGCAGGCACAGGGCTGGCACTTTCACCCAGAAAGCAGAGCTGCACTGGGTATAAAGTGTACATTTAGGGGAGAGCAGAAATGGCAAGCAGAAGTGGGGGCAAGCAGCAGTCATCACAATATTTCAAGGGAGCAAAGTTTTGACAGGTCACCAGATAGTGGACAAAGGAAGACATGAAGAGCATAGGAGCCTGACAGAGAAAGAATCTCACCCATCTGCCTGGTCCCAACACCTAGCCCACGGCCTGACAGAGAACCAGTGCTCAATGCTTGAAGGAAGAACCGCTGGTGCTTATTTGGATAAAGGAATACTACTCTCTCTGGGGTTCTGAGCGGCAATGACTCTACAGCGTACCACCACTTGGTTTAGCGAGTGTGAGGCAGAGTTTGCTTCCAGGCATGGTAACTTTGCAGTGATAGTAGGACACTACGTGACCCATTAATAGCTGAACTTTCTGAATAATTGGGAAATTCGTTTGTATGCCTTGCCAAAAACCTTGAACACAGGTGTATCCGTTTTCTCAACTAAGGAGAATAGATTGATCACAACTAACCTTTACTTGATGAGTAAGAATTCTACAATGACCCAGGTTTCAGTTTTCCCATACCTTCATTTATTCACTGAATATCTCTTGTGTATCTGCTATGTGCCTGGCAATGACCTGGGGTCAAGGTGAACAAGACAAACAGTCCTGGCATGCATACAGGGCCATGACGTTGATGGTAGAATACATCATAAAACAAAAGGGACCCACATTAGGAAAAGCTTTTAAAAACTAAAACTAAAGTTCCTGAAACCAACTTTTTTCTTGTGATTTGCTTACTTCCTAAAAGCTTAATGAATGAAAGTAACTCTGGTTAGAATACAACTCTGATTAATAAGCTTCCAGTTAATAGTGTTTACCGGATGTATTTTCCAGCTTTGGACATGCAAGCTGTCCTAGAGAGAGTATTACTCTTATGACAAAATGGACATTTTTCAAACCAGAATGAAGCATGCCTAAACAAAGGTAAGATCTGTATTATAAGTGCTTCTGCAGTCCTCAGATACAAGTTTAGATTTCAGAGAGATTAATTCACAAAGTATTGGCAAGCCAAGGAAATACTGGAAAGATGTCAATGACATCTGCCACACCAAGTAGTTACCAGAAAGCCTCTCAAAAAGAAATAAGAAAGTATATTCTCACCAAAGATATACACTTCCAAAAATCACCCCTCCATCAATCACATCTTTTATATATTTTCTAATTCTGTTTATCTCTTTCAAAAGTTTCCTGTAACATAACAGGATGTTACTTGGATCTTTCCAATAAAAACAAAGAAAGTTAAGTTCTTAGCTGAGGAGCAGGCAAGGATGCAAATCAGAAAAACGCTGAACAAGAACAGANNN
|
benign
| 2,608 |
Variant chromosome 1, position 11145054, gene MTOR: benign or pathogenic? Disease(s)?
|
benign
|
CAAGAGCCAAATTTCCACTATAAATGTAATGCTTTACTTTCAGGCCTTGGACCACATTTTTCCATCCCATGAAGTGTGACAACAATGATTTCGAAAGTTAAAATAACAGAAAAAAGTACACTGAGTGATTGTTTTTTGTGACTTCTCACCAATAGTTAGGTTCTCCCAGATGCTGAAATAATTTGGCCTCCTGTAAGCCAAAAAGCATCTTGCTGCCTCAAGATAGGAAAGTCACGAAGGCTTAAGGTGGTGGCAGTGTCCTGGACCCAGTAAAGTCAGACAGGCATCTCTCTTCCCAGGACTCATTCCATGCCTCCCCTCTCCTCTAAGTCTACATTTGGATCAAGTCCCACTTGTCAGACTGTCAGAAGGTTCATCAGATCTCTGCTGTAGAAACTCTTTATTATAGGCATTTCAAAGAATTGGGGTGTGTACAAATCAAGTGGGAAATGCTTATTTGTGGAATTCTTTCTGGTGCCCAGGAGACAATTTTCCATCAAAACATTCACTGGGCATTTCATAATTACTAATAAAACATGTAAAAGAACTGTATGTGCTCATTTCAGAGCCATAAATGACTGTATTCATAGATGTTCCTTTGCCCATTGCTCTTTCCTGTCCAGGGGAATGTGCCCTGAGCTTCCTAGGCAGGAATGTGTTTGGAGTCAAAAGGTTTTGTCGCAGCCTACTGAGACGCCTGGAAGCACAAACTTCGATTGGTCTGAAGCGAGAATTTGGAATTAGCAATTAGGTGGGGATCTAGTTGAGAGGAAATGGTTTATAATTGCGGGGATGGATTATGATAGGTAGGGAGACAAATGGTTTCTGGAGTGGTAAAGGCTTTCTCTCTTTTTTCTTTTGCTGATGAACTTCCTATCCTACCCACTCAAGGAATGGGATAACTGGCCATCCTTCCCAGAACATTTAGACTCCTGACTCCCAGACCTGGAGTGACAGTTTCTCATGTTAAAATGATCAGAATGTGAGAATGAAAACACTGATGGAGGACTTGGGAAAGCTTCTTCTCTACAAGCGGAAACTGCAGTGGAAAAAAAGTCTCAATAGAGGCGACAGGATGACTCTGACCTAAGTAGCTATAAATAGCAGGAGTTGGCCAATGAGAACCTAAGGCAACCCCATCTGAAAAGCTGGTGCAGGTGGCCTCCAAGTGTAGTTAGAGCAGTGGTTCTTAGCTTTGGCTGGTGGAATCATCTGGGGGAACCTGAAAAGATACTGATCCTGAGTCTCTCCCCAGAAATTTAATTGGCCTGGGGAATAGCCTGGGCATCAGGATTTTAAAAAGCTCTGCAGGTGATTCTACTGTGCTGCTAAGGTTGAGAACCACTGATTTTGAGGTTATGATTCCTAACTGACTGGTCACAGGTGTCACTTACTAAAAAACATTTTTTTTAATTCCTAGAGAAGAGAATAAGAAGAGACTGGAAAATTGGTCATTCTCTCACAGCTTAAGTTTAGGTGAGGAGCCTTTGAGTATTCTGCTTTGTATGCAAGCCAAGCAATACACTGGTGGAGGAGGCAGGAAAAGCAAGTTGAGTAAGAGCCAGGGTGGAGGGGGGCACTCACCCAGGTCCTGGAAGGGGTAGGGGTAGGTGGGTGAACTGGGGCTTTCTACCAAGCTCACCTGCAGTCTCTCCCACCAGATCTGGCGGATGATCTCTCGTCGCTCGGGGACAAGTTTGTACTGGATAACCTCCTCCAGCTCGGACAGCATGTGGCAAGAAACCATGGCCTGATGGAAGCAAATCGCATTCCAAACTAATTACTGCACGAACAATCCAAAAGACAGGATTAATTTAAATCATTCCTTCTGGTGTCAGGGTATCTGCCGATCAGAGAAAACAGGCATGTTTCCAGCAGCCTGTAAGTTCTCAATAGCCCATTCTGAAAAAAGTATGGAAATAAGCCTCAAAAATGACAATGTGCAGAATAGTTGACACTTACCCCATATGCCCGACTGTAACTCTCTCCTGCCATCGCAGTTAATTCAGCATCCAGCAGGTCCCTGGCCTTGTCAATGCACTAGAAGAGAAACAACCCTTGGGACTGAGCTCTGGACTTGGGAGCTTAGGGTTATTTTAGGGCACCCCAACTAGCTACAGAAGTTATCTGTCTCACTTAAATTCCAGGGATGAAAAGAGAAATTCGCTGAAGAAGGGCATTTTCCCAGAACTGAATGGCTTGAGAGGAGGTATTATCCAATTTCTCATCGAAGACAGAAATGTATGGCATCCAAAACTTTAACATCTATCTAAGGTAACACACAAAATCTTAGGTGGCAAGGGCATGGGAATGTGGGCTGTAAAACCGAATCATGGGTTCTTGCATCTCAAGAGGACATAACTGGGGATCTACCTTTTTTTTTTCTTCTGAGACACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGTCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATGCTGGGGTTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCTCCATGTTGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATGCTGGGGTTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGGCAGGCTGGTCTTGAACTCCTGGTCTCAAGTGATCCGTCTGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACTGTGCCCAGCCTGGGGATCTACCCTCTTTTAACTTTTTCTTGCTGGGCATGTTTATGAAAATAGATTCTGCACACACTTCAATGGCTCCAGGTGGTAGCTCTGGCTTCCAAGCACCCTCTGTCCTTATGAGGGAGTGTCTCTAAAATTGGCAGAGATGCCCAATCCTGTCCACATGAACGGGAACTCTTGTGTCTCTGACAGAGACAACCAAGATCTTGGTTCTCATCACACAAATGACAGCCTGGGGGACGCCACAGCACTGCAGTTTGAGTTTCCTCTGTGCCATCAATTAAAAACCCCTCATGCAGAGCTTTTCCCGTTTTTGAATGTTTAAGGTTAATTATAGTGTCCCAATGCCTTAAGTGCTCAGATCATTTACCCGGGCACCTCATCTAAGTCTCGTGTCTGACAGGGTGGATGGGATTACTTCATTATTTCATTCTGCAAGTCAGCATACTATTTGCAAGTAAGTACTAGCTTCCTCGGAAGGTAATCAATGTGTGACATGCCTGCATGGCCAGAAGACCCTTGTGACTGATTTCTGCTGCACAGTGAGACTGCTGGCTCTCTGAATCCTACCTTTTGGTGAAATACAGCTTCTCTCTACAACAAGGGATACAATGATGACCCAACAAGCTAACTCCAAAAGCAACCGAGACAGTAGCTTCCAGAACACATTTGTCCCCCTCAGAACAATAAGTAGCCCCAGCTGACCTGCTGGCAGTCTTCTGAGTACAATGAATCAAAACCATTCAAATGTACTCACAGAGCCGAGTAAACATCAGACCTGAAGTACAACAGCTTCTTTACCAAAGCACCGTGGGCTTAGAAGCACTACAATCTTTTCCTCACTGAGAGATCTGGGTGCATGTAGGTTTTTACCTGTTGTGCCAAGGAGAAGAGGTCCTGATGCAGTGCCAGCACAGCTCTATAAAATGCCCCATCATGGGTGTCCCGAGGGATCATACAGGTGTATTCTTCCATGCTGTCCCACTGACCTATACACACACACATAGACAGAAAGCATCAAGGGGGTTGGCTGGTTGGGCTAAAGGCAGCATCTCAAATAGGTCTTGCCACTGTTATTTTCCTTTAGCTTGGGATATAAACAAGACAAATAAACTTGAGCCTCATGTACCAAAATCCTGCAGAGCCCCTATACACACTATGCAGGTTGACGTAACAAAAAAAGCCACATCTGTCTTCCAAACACAGGACTCCATGGCTGCCCAGGGAGCATCTTGACAGATGAGGGGAAGTGCATGAGTGTGAAGTCTGCACATCAAGTGGGCTGAATGCAGCACCTCA
|
CAAGAGCCAAATTTCCACTATAAATGTAATGCTTTACTTTCAGGCCTTGGACCACATTTTTCCATCCCATGAAGTGTGACAACAATGATTTCGAAAGTTAAAATAACAGAAAAAAGTACACTGAGTGATTGTTTTTTGTGACTTCTCACCAATAGTTAGGTTCTCCCAGATGCTGAAATAATTTGGCCTCCTGTAAGCCAAAAAGCATCTTGCTGCCTCAAGATAGGAAAGTCACGAAGGCTTAAGGTGGTGGCAGTGTCCTGGACCCAGTAAAGTCAGACAGGCATCTCTCTTCCCAGGACTCATTCCATGCCTCCCCTCTCCTCTAAGTCTACATTTGGATCAAGTCCCACTTGTCAGACTGTCAGAAGGTTCATCAGATCTCTGCTGTAGAAACTCTTTATTATAGGCATTTCAAAGAATTGGGGTGTGTACAAATCAAGTGGGAAATGCTTATTTGTGGAATTCTTTCTGGTGCCCAGGAGACAATTTTCCATCAAAACATTCACTGGGCATTTCATAATTACTAATAAAACATGTAAAAGAACTGTATGTGCTCATTTCAGAGCCATAAATGACTGTATTCATAGATGTTCCTTTGCCCATTGCTCTTTCCTGTCCAGGGGAATGTGCCCTGAGCTTCCTAGGCAGGAATGTGTTTGGAGTCAAAAGGTTTTGTCGCAGCCTACTGAGACGCCTGGAAGCACAAACTTCGATTGGTCTGAAGCGAGAATTTGGAATTAGCAATTAGGTGGGGATCTAGTTGAGAGGAAATGGTTTATAATTGCGGGGATGGATTATGATAGGTAGGGAGACAAATGGTTTCTGGAGTGGTAAAGGCTTTCTCTCTTTTTTCTTTTGCTGATGAACTTCCTATCCTACCCACTCAAGGAATGGGATAACTGGCCATCCTTCCCAGAACATTTAGACTCCTGACTCCCAGACCTGGAGTGACAGTTTCTCATGTTAAAATGATCAGAATGTGAGAATGAAAACACTGATGGAGGACTTGGGAAAGCTTCTTCTCTACAAGCGGAAACTGCAGTGGAAAAAAAGTCTCAATAGAGGCGACAGGATGACTCTGACCTAAGTAGCTATAAATAGCAGGAGTTGGCCAATGAGAACCTAAGGCAACCCCATCTGAAAAGCTGGTGCAGGTGGCCTCCAAGTGTAGTTAGAGCAGTGGTTCTTAGCTTTGGCTGGTGGAATCATCTGGGGGAACCTGAAAAGATACTGATCCTGAGTCTCTCCCCAGAAATTTAATTGGCCTGGGGAATAGCCTGGGCATCAGGATTTTAAAAAGCTCTGCAGGTGATTCTACTGTGCTGCTAAGGTTGAGAACCACTGATTTTGAGGTTATGATTCCTAACTGACTGGTCACAGGTGTCACTTACTAAAAAACATTTTTTTTAATTCCTAGAGAAGAGAATAAGAAGAGACTGGAAAATTGGTCATTCTCTCACAGCTTAAGTTTAGGTGAGGAGCCTTTGAGTATTCTGCTTTGTATGCAAGCCAAGCAATACACTGGTGGAGGAGGCAGGAAAAGCAAGTTGAGTAAGAGCCAGGGTGGAGGGGGGCACTCACCCAGGTCCTGGAAGGGGTAGGGGTAGGTGGGTGAACTGGGGCTTTCTACCAAGCTCACCTGCAGTCTCTCCCACCAGATCTGGCGGATGATCTCTCGTCGCTCGGGGACAAGTTTGTACTGGATAACCTCCTCCAGCTCGGACAGCATGTGGCAAGAAACCATGGCCTGATGGAAGCAAATCGCATTCCAAACTAATTACTGCACGAACAATCCAAAAGACAGGATTAATTTAAATCATTCCTTCTGGTGTCAGGGTATCTGCCGATCAGAGAAAACAGGCATGTTTCCAGCAGCCTGTAAGTTCTCAATAGCCCATTCTGAAAAAAGTATGGAAATAAGCCTCAAAAATGACAATGTGCAGAATAGTTGACACTTACCCCATATGCCCGACTGTAACTCTCTCCTGCCATCGCAGTTAATTCAGCATCCAGCAGGTCCCTGGCCTTGTCAATGCACTAGAAGAGAAAACAACCCTTGGGACTGAGCTCTGGACTTGGGAGCTTAGGGTTATTTTAGGGCACCCCAACTAGCTACAGAAGTTATCTGTCTCACTTAAATTCCAGGGATGAAAAGAGAAATTCGCTGAAGAAGGGCATTTTCCCAGAACTGAATGGCTTGAGAGGAGGTATTATCCAATTTCTCATCGAAGACAGAAATGTATGGCATCCAAAACTTTAACATCTATCTAAGGTAACACACAAAATCTTAGGTGGCAAGGGCATGGGAATGTGGGCTGTAAAACCGAATCATGGGTTCTTGCATCTCAAGAGGACATAACTGGGGATCTACCTTTTTTTTTTCTTCTGAGACACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGTCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATGCTGGGGTTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCTCCATGTTGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATGCTGGGGTTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGGCAGGCTGGTCTTGAACTCCTGGTCTCAAGTGATCCGTCTGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACTGTGCCCAGCCTGGGGATCTACCCTCTTTTAACTTTTTCTTGCTGGGCATGTTTATGAAAATAGATTCTGCACACACTTCAATGGCTCCAGGTGGTAGCTCTGGCTTCCAAGCACCCTCTGTCCTTATGAGGGAGTGTCTCTAAAATTGGCAGAGATGCCCAATCCTGTCCACATGAACGGGAACTCTTGTGTCTCTGACAGAGACAACCAAGATCTTGGTTCTCATCACACAAATGACAGCCTGGGGGACGCCACAGCACTGCAGTTTGAGTTTCCTCTGTGCCATCAATTAAAAACCCCTCATGCAGAGCTTTTCCCGTTTTTGAATGTTTAAGGTTAATTATAGTGTCCCAATGCCTTAAGTGCTCAGATCATTTACCCGGGCACCTCATCTAAGTCTCGTGTCTGACAGGGTGGATGGGATTACTTCATTATTTCATTCTGCAAGTCAGCATACTATTTGCAAGTAAGTACTAGCTTCCTCGGAAGGTAATCAATGTGTGACATGCCTGCATGGCCAGAAGACCCTTGTGACTGATTTCTGCTGCACAGTGAGACTGCTGGCTCTCTGAATCCTACCTTTTGGTGAAATACAGCTTCTCTCTACAACAAGGGATACAATGATGACCCAACAAGCTAACTCCAAAAGCAACCGAGACAGTAGCTTCCAGAACACATTTGTCCCCCTCAGAACAATAAGTAGCCCCAGCTGACCTGCTGGCAGTCTTCTGAGTACAATGAATCAAAACCATTCAAATGTACTCACAGAGCCGAGTAAACATCAGACCTGAAGTACAACAGCTTCTTTACCAAAGCACCGTGGGCTTAGAAGCACTACAATCTTTTCCTCACTGAGAGATCTGGGTGCATGTAGGTTTTTACCTGTTGTGCCAAGGAGAAGAGGTCCTGATGCAGTGCCAGCACAGCTCTATAAAATGCCCCATCATGGGTGTCCCGAGGGATCATACAGGTGTATTCTTCCATGCTGTCCCACTGACCTATACACACACACATAGACAGAAAGCATCAAGGGGGTTGGCTGGTTGGGCTAAAGGCAGCATCTCAAATAGGTCTTGCCACTGTTATTTTCCTTTAGCTTGGGATATAAACAAGACAAATAAACTTGAGCCTCATGTACCAAAATCCTGCAGAGCCCCTATACACACTATGCAGGTTGACGTAACAAAAAAAGCCACATCTGTCTTCCAAACACAGGACTCCATGGCTGCCCAGGGAGCATCTTGACAGATGAGGGGAAGTGCATGAGTGTGAAGTCTGCACATCAAGTGGGCTGAATGCAGCACCTC
|
benign
| 2,650 |
Variant in gene MTOR (mechanistic target of rapamycin kinase), located at chromosome 1 position 11248104: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
CCAAACTGCAAGCTTTAAACAAATAGTACTTATGCAATGAAGCAAATACTTATACGGTGTGCCCAGGCTGAATGTCACTGGCATATTTTAGCATATTTAATAAAACAACCTTGACTAACCTTAAAAAAGAGAGCAACAACAATAACAAACACCCACATCAAAAGAAGAAATCTAGGGCCCTCTGAGCCTTTGTATCCTGCTGCTAGGCAGCCTTCTGAACTTACAAGGGTAACTTACAAGGGTAATGTGCCAGACTTTGATCAAATTTGGCCTAGTTATTAGTTCCTTTTGAACCACAGACTTTCAATCCAAGATCATTTAAAGCTCTACTGAACAGCAGCCTGTCTGGTCATTAAAAAAGAGAAAAGCTGCTGGGTGCCAGGCCAGAACAATAGAAACTAACAAAATACGGGTGATTTTCCTTCTGTTATTTCTCTCTGGTTCAGTGGTTTTATGTGGCGAATTGTCATGTCCTCACCCAACACGTTCTACTTCTTTCGAACAGCGTGTTTAACACCTGACCAGCTACATTTCTCCTGTGGTTTGTCTGGCTGGGTGGCGTGAAGTGAGTCTGTGTGCTAGGGAATAGGGTCTGCTGAGGGCCAGGCTGGCCTTTTGCTTATGTTCCTGGCTCTCAATGGGTCCTGAATGCTTCACTAAGCACAGGCAATGAGCACCACGGTAAAGTGGGAAGAGATGTTCAAGACTGGGTGCCTACACTCAGCAAGTAGAGAGGTAAGACAAGGACATTAAGTATGAACAGGCAACTAGAGCATTATAAATTTTACCTCTACCCTATTTCCAAAACATATTTGAAGTAGCTTGAGGAGGCTGTAATAATATATAATGGTTTCCACTTATTAGGGCTCTGTGCCAGGCACTATAGTAGATGCTGAGACATTAATGCTGCTCATCTTGGGAGGCAGAGATTGTTATTCTGATTTTACAAGTCAGGAAGCTGAGGCCCAGGTAGGTCAAATAATCTGTCCAAAACCTCATGGTTAAGGGCGGAGGTGGGGTTCATCTCAGGTCTGATGCCAAACCTTTCCACAGCTGAGGGCTATGATGGAAGAAGGCAAGGACATTTACAGCTGGAGCAATCTAGGAAGGCTTCGTTGAGAAGTTGGACTCTGAGTTGGGGCAGCTTCAGGAGCCAAGGATTGATGCTGCCTGCAAGTGGTGAGGCAGCTTGGTGACCACCTCAGGGACAGAAGCAGGACGATCCCCAAACCCTCCCTGACTCACAAAGCTTTGACGTAGATGCTGCACAGTAGCTACATCAAAACTGCCCTTCCTTTGGTCTCTTTTAAGTCTACTTGTGAACTTGTTGGCATCCATACATGAAAATTTGCTTGGCCATAGAATTGCCTCTCTGTTCTGATTGTTCCTGTGTCTGCTGCCTCTGACATTAGAAAACCTGAACTAAATAGCATTGAAATTGGACATGAGACAAAGAAATCAGAGATTTGTTGGCGTTGCTTCAAAGGAAAAGATATTTGGCTTTTCTGGAATCACCTGTTCCCTGTTTACCCTGAGATGGGTAATGATGTCTTCCATGGACATCCTCACCTGTGAAGGCAGAAGGTCGGAATGCAGCCAAGCGGGGCAACAAATTAAGGATTGTCATTTGGATCAGCGAGTTCTTGCTATTCCTGCATTTCAGCACCCACTGGCACACCTGAGAGAGGAAGGATAAAGGGTTGGCAGGGGAAAAGTGAGGTGTGGAGCTTAGGAAAAGAGGGAAAGGGCCTCTCACCACTTACCTGATCAAATTTCTCCTCCATCAAGTCTCTGCAACACCGGCTCTCCACCAGGGTGGACTTAGCTGGACTGGGGGAGGTCCCAAATCCCATGAGGCCTTGGTGAGAGCTGTACCCCAGCAGCCCCACCAAGGCATTTGACTGCTGGGGCTGTACAGCCTGGAAACTGGTGAAGGGGGTAATGTGACGAGGTTTTGTTCCGAAGCCCATGAGATCTTTGCAGTACTTGTCGTGTACCAGCTGCTGCTGTGTGATTTCTTCCATTTCTTCTCTCAGACGCTATATATATGAGGAGGAAAAAAATCATCTTTACTTATGACTGGCATTCAAACTGGGCACTGTGGATTCTACAGACAATTACATTTGCCTAATCCCGAAACGCAACTACTTCCAAAGTGAAGGGTGGCCACTCTTCATGTTTAGGGTTACAATTTCCCCAGAACCTTGCAAGGGACCTGATTTTGTTCTAAGTTAGGCAGAAGAGCACCACCTATTGAACAATAAAGCAGCAGCAGAGGGCTGCCTTGCCAAGGGTTCTCACCTCCCAGGACTCCTCACTTGGTTTGGAAGGGCTGACTTGCATACTGCTGTGACTACTGACCTAGGCCACTGCAATGAGGCTTGCAAAGGTGATGGGAGCTCCCCTGCCAGCATCCTGTTAAGGACTGTCTGATCTCTTTCTTCTCCCTAGAAACCCAGGTAAAAACTTATGCAGGCCAGGCGTGGTGGCTCATGCCTGTAATTCCGGTACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCCGTCCCTATTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCTGGCTACTTGGGGGCTGAGGCAGGAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTAGCCTGGGCGACAAGAGGGAAATCTGTCTCAAAAAAACAAAAAACAAAAACTTAACCAAATAATTTTCTCAGAATCCTAGGATTCCACAGGTAGTATGGAATAAGCTGACTGAGAACTCATGTCTATTACCTTTACAATGGGCTGCTTAATCACTCATCCTGAGTCAGGCGCAAGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGTCTGACCAACATGGTGAAAACCCGTTTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCAACTGTACTCCAGCCTGGGCAGCAGAGCAAGCCTTGGTTTTGGGGGCCAGGGGAGGGGGGTTGGGGACTACTCATCCTCCAAGACTCCAAATTGAGAAGGAGATACAAGTTTTCCAAACTTCTAAACTTTTCTTGACACACATATTTTCACTTTTCAGAAAATCTTGTCCTCTCGTCAAAGTCACCAGTGAGTCTTTTTTTTTTTGAAACTAAAACACTCCATCTTTATTTATTTATTTATTTATTTATTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAATGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACCTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTGCCCCCTTTCTATTCCACAAAACCGCCACTGTCATCATGGCCCGTTCTCAATGAGCCACTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
|
CCAAACTGCAAGCTTTAAACAAATAGTACTTATGCAATGAAGCAAATACTTATACGGTGTGCCCAGGCTGAATGTCACTGGCATATTTTAGCATATTTAATAAAACAACCTTGACTAACCTTAAAAAAGAGAGCAACAACAATAACAAACACCCACATCAAAAGAAGAAATCTAGGGCCCTCTGAGCCTTTGTATCCTGCTGCTAGGCAGCCTTCTGAACTTACAAGGGTAACTTACAAGGGTAATGTGCCAGACTTTGATCAAATTTGGCCTAGTTATTAGTTCCTTTTGAACCACAGACTTTCAATCCAAGATCATTTAAAGCTCTACTGAACAGCAGCCTGTCTGGTCATTAAAAAAGAGAAAAGCTGCTGGGTGCCAGGCCAGAACAATAGAAACTAACAAAATACGGGTGATTTTCCTTCTGTTATTTCTCTCTGGTTCAGTGGTTTTATGTGGCGAATTGTCATGTCCTCACCCAACACGTTCTACTTCTTTCGAACAGCGTGTTTAACACCTGACCAGCTACATTTCTCCTGTGGTTTGTCTGGCTGGGTGGCGTGAAGTGAGTCTGTGTGCTAGGGAATAGGGTCTGCTGAGGGCCAGGCTGGCCTTTTGCTTATGTTCCTGGCTCTCAATGGGTCCTGAATGCTTCACTAAGCACAGGCAATGAGCACCACGGTAAAGTGGGAAGAGATGTTCAAGACTGGGTGCCTACACTCAGCAAGTAGAGAGGTAAGACAAGGACATTAAGTATGAACAGGCAACTAGAGCATTATAAATTTTACCTCTACCCTATTTCCAAAACATATTTGAAGTAGCTTGAGGAGGCTGTAATAATATATAATGGTTTCCACTTATTAGGGCTCTGTGCCAGGCACTATAGTAGATGCTGAGACATTAATGCTGCTCATCTTGGGAGGCAGAGATTGTTATTCTGATTTTACAAGTCAGGAAGCTGAGGCCCAGGTAGGTCAAATAATCTGTCCAAAACCTCATGGTTAAGGGCGGAGGTGGGGTTCATCTCAGGTCTGATGCCAAACCTTTCCACAGCTGAGGGCTATGATGGAAGAAGGCAAGGACATTTACAGCTGGAGCAATCTAGGAAGGCTTCGTTGAGAAGTTGGACTCTGAGTTGGGGCAGCTTCAGGAGCCAAGGATTGATGCTGCCTGCAAGTGGTGAGGCAGCTTGGTGACCACCTCAGGGACAGAAGCAGGACGATCCCCAAACCCTCCCTGACTCACAAAGCTTTGACGTAGATGCTGCACAGTAGCTACATCAAAACTGCCCTTCCTTTGGTCTCTTTTAAGTCTACTTGTGAACTTGTTGGCATCCATACATGAAAATTTGCTTGGCCATAGAATTGCCTCTCTGTTCTGATTGTTCCTGTGTCTGCTGCCTCTGACATTAGAAAACCTGAACTAAATAGCATTGAAATTGGACATGAGACAAAGAAATCAGAGATTTGTTGGCGTTGCTTCAAAGGAAAAGATATTTGGCTTTTCTGGAATCACCTGTTCCCTGTTTACCCTGAGATGGGTAATGATGTCTTCCATGGACATCCTCACCTGTGAAGGCAGAAGGTCGGAATGCAGCCAAGCGGGGCAACAAATTAAGGATTGTCATTTGGATCAGCGAGTTCTTGCTATTCCTGCATTTCAGCACCCACTGGCACACCTGAGAGAGGAAGGATAAAGGGTTGGCAGGGGAAAAGTGAGGTGTGGAGCTTAGGAAAAGAGGGAAAGGGCCTCTCACCACTTACCTGATCAAATTTCTCCTCCATCAAGTCTCTGCAACACCGGCTCTCCACCAGGGTGGACTTAGCTGGACTGGGGGAGGTCCCAAATCCCATGAGGCCTTGGTGAGAGCTGTACCCCAGCAGCCCCACCAAGGCATTTGACTGCTGGGGCTGTACAGCCTGGAAACTGGTGAAGGGGGTAATGTGACGAGGTTTTGTTCCGAAGCCCATGAGATCTTTGCAGTACTTGTCGTGTACCAGCTGCTGCTGTGTGATTTCTTCCATTTCTTCTCTCAGACGCTATATATATGAGGAAAAAAATCATCTTTACTTATGACTGGCATTCAAACTGGGCACTGTGGATTCTACAGACAATTACATTTGCCTAATCCCGAAACGCAACTACTTCCAAAGTGAAGGGTGGCCACTCTTCATGTTTAGGGTTACAATTTCCCCAGAACCTTGCAAGGGACCTGATTTTGTTCTAAGTTAGGCAGAAGAGCACCACCTATTGAACAATAAAGCAGCAGCAGAGGGCTGCCTTGCCAAGGGTTCTCACCTCCCAGGACTCCTCACTTGGTTTGGAAGGGCTGACTTGCATACTGCTGTGACTACTGACCTAGGCCACTGCAATGAGGCTTGCAAAGGTGATGGGAGCTCCCCTGCCAGCATCCTGTTAAGGACTGTCTGATCTCTTTCTTCTCCCTAGAAACCCAGGTAAAAACTTATGCAGGCCAGGCGTGGTGGCTCATGCCTGTAATTCCGGTACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCCGTCCCTATTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCTGGCTACTTGGGGGCTGAGGCAGGAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTAGCCTGGGCGACAAGAGGGAAATCTGTCTCAAAAAAACAAAAAACAAAAACTTAACCAAATAATTTTCTCAGAATCCTAGGATTCCACAGGTAGTATGGAATAAGCTGACTGAGAACTCATGTCTATTACCTTTACAATGGGCTGCTTAATCACTCATCCTGAGTCAGGCGCAAGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGTCTGACCAACATGGTGAAAACCCGTTTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCAACTGTACTCCAGCCTGGGCAGCAGAGCAAGCCTTGGTTTTGGGGGCCAGGGGAGGGGGGTTGGGGACTACTCATCCTCCAAGACTCCAAATTGAGAAGGAGATACAAGTTTTCCAAACTTCTAAACTTTTCTTGACACACATATTTTCACTTTTCAGAAAATCTTGTCCTCTCGTCAAAGTCACCAGTGAGTCTTTTTTTTTTTGAAACTAAAACACTCCATCTTTATTTATTTATTTATTTATTTATTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAATGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACCTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTGCCCCCTTTCTATTCCACAAAACCGCCACTGTCATCATGGCCCGTTCTCAATGAGCCACTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACNNN
|
benign
| 2,762 |
For chromosome 1, position 11790882, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive']
|
GCTTTCCCTGCTTGCCAGCCCCGGGGCCCCTTCGTTTTCAGGGGAGGGGGTCAGTTCCATTACAGAACACACAGGCTGGATGCTGGAGCCCTTGCTTTGATTTGTGGCCCCAGCTCAGGCCAGGCCCACCCGGTCCATCAGTTTGCGAAGAAGGTGTGGCATGAGGCATGGCTGCCACTCACACTAGCCCATGGAGGGCCTGGGTCCTGAGCGCCCCCTCCCTCATTTGCTCTGCTCTGAGTACAGCTTCCCAGCTCACCATCAGATCTATTCTGAGCTTGTGCATTTGGCCTAGGCAAGACTGGCTGGCTGCTTGGGGCAGAGGGAGGGGCCCTGGGGACAAAAGGAGCTGGGTACAGGGGTTGCTCTAGCAGGCACAGCACAGACCCCGGAGAAAGCCCACAACAATAGCATTTCCTCTCCTCCCTGGTTCCAGGCCTTTAAGAAGTGGCACCAACGCCTGGCAGCCAGGAGCCCAAGGAGAGGAGCTGCCAGTAGCCCAAGACCCTGGAGCAAGCCAGGCCCCAAGGGCCCCGAGAGTGGACAGGAAGCCGCCAGAGCACCGCGGGGTTGGGGGCTTGGGGCAGAGCATGGGGCCCAGCTGCAGCTGTGACTTGTTCTCATAGAATAAAAAACAGAACTGAACTTAGCCTTCCCAGGGAAGGAACCATGCCCCACACATCCAGGGAGTGATGACAGAGGGGACAGCTTGAAGAGCTCTGAAGGACAATAAAACCCACTCCTCAGTCCTAGCTGCTGCTTTCAGTCTCTCCTAGCGGCTGCCCCTCTGCCCCAGCCAGTGAGGCCAGGAAGGGAGTAAAGAGGACATCCCACAATTGCGTCCACCCCCTTGGCCATCAGGCTGCTCTTCCACTACACGAAACAGCCCATCTGCACCTGCCAGTCACTGCCCCCAGGCCCTGGGGCTTGCAGGTGACTCGTGGGGAGCCAGGCCAGGCAGATAACCTCTGGGACAGGACGAGGGGATGAGGAAGGCAGCTGGCAGGACAAGGGCCTACCTGAAAAATACACCAGGAAGCTGGGCTGCTGCACAGGCCCAGGCAGATCTGGGGCCCCTGTGCTGGCAAATCTCATCTTAGCCTCTGACAGGGAACGGGGCAGCATCAGGCCTCCACAGCCAGGCAAAAGGGGAAGGCCACGAGCCCCACCAAGCACAAGGGTTCAGACTGCCTTCAACCCTTAAGGGGCACTTTTTCTCTCAAGGCTCAGAATAGACAACTGTGCCAAAAAGCAGCATGGTAGGTGTCAGCCCAATGCCCATCCAGGGGGCTGGTGCCATGGACGGCTAAGTGGGCAGGCAGGGCAGTGGTGTGCCCCTTCAGTCACAAGTAGGTGGGGCCCAGCTGCCCACCTCTAGGAGGTGGAAGGGTACAGCACTTTGCCACATCTCTTCTACGATGCCACCAGTGCCTGATGCCCTTGCGTGTTTTGCCTGTACTGCACGGGCTCCAAGTGTAAGTTCACTGGGAGTCCCAGGCTGGCTCTGGAGGCTGCCTTGGTTCGAGGGCTTAGTTGGCAACAACCACTCTCCTCGCCTTCTCAGGAGGTGCCACCCACTGTGGTCCTCTGCAGGACGCAAGTGCTCCCCACCAAAAGAGCACAGACTCCTGGCTAGAGCAGAGAGTACTAGGTTCCCATGTGGGGCCGACTCAGGTCCAGGAAGAGCCTGGAAGCCTCACTCCAGTCTAGCTGCCATTGTCAGGTGGGGGAGTGGAGGCCGGGGTGGGAGAGACACGAAGGAGAGTGGAGTTCCCAAGAGAAGCAGCACTGTGGAGGAGGAAGGCGGGACAGGAGTGGCTCCAACGCAGGGCGTCAGGACGCAGGGTCATGGAGCCTCCGTTTCTCTCGCATTCTGGGTGGGCCTGTTGAGAAGCTCCAATGTGTCTTCCACCACCTGCCAGAGGCAGTTGTCCAGTGGGAAGTCATTGTCCACCAGGTTGACCAGGAAGTAGTTGTCGTGGATGTACTGGATGATGGTGCGGGACGGGGACTCCTCCTCATACAGCTTTCCCCACCGCTCAATCCACAGGGCAAAGGCCTCGTCCTACACACACATACCCCCGCACACACGCACACATGCACACACACACAGAGGCAAGATTAACAGGGCTCTCCAAGGGCTCTGCTCAACAGGACATTTCCCGGAATAGAACAAGGCCCACTGCCAGTATCACTTCCCACCCCTGCCCAGAAATAAACACCCTGCATCAGCAGTGACATGGGTGAGTCAGAGCTGGGTGTGCCCTGAAGGCTGGGTCCAGTGTGGCCTTCAGCACACGCTTGGGACTTGGTCCCAATCCCTCCCCACGGTTTTCCAGGTGGGCGGGGCAAGCTTGCCCCCGGCTCCTTTACCTTCCAGAACATGAAGCTGACGGGATCCACTACGGTGGGCTGGATGATCTCTCGCCCAGGGAAGATGCCCCAAGTGACAGCATTCGGCTGCAGTTCAGGGGCATTGGTGATGTTTTCACCCTGAGGGGATGTGGGGTGGGGGTAAGACCTGGGCCAAGAACAACTGGAGTCCCACTGCCTGGACAGCCTTGACTCAATGAGGCTGTCTGGGCTCAATACCCTCTGCCTGCGCCTCCACTCCCGGCCTCCACTCTCCCTGCGCCTCCACTCCCCTCTCCCTGTGCCTCCGCTCCTGGCCTCCTCTGCCTGCATCTGTGAATGATATCTCTCCCCACACAAGCCTGAACCTAGAGGCGTCCTGGCCACTTCCCCTCTCCTCCTTGAGCACCCCCTGCTCACTCTCTGATCCATTCCCTCTTGTCTAGCCCACCTCCAGGAGTGTGTTTGGCTTGGGTCACTCCAGGGGTCTCTTCACTGGCCTCCCCGGCTCTAGCCGTCCCCAATCTCTCTCATCCGTATGACTATCCACTGTGATTTGCCTAAAATAAAGCAGGAACCAAGCCACCCCACTGCTGGAGAAAGGCTTCCCTTGCATTGAGGGAAAACTCAAATTCCAGCAGGACAACCATGATCTCTGCGGGCCTGGCCCCTGCTTAACACTCCCGCCTCCTCCTGCTCATGTTCCCCGTTTCCCCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTCTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGA
|
GCTTTCCCTGCTTGCCAGCCCCGGGGCCCCTTCGTTTTCAGGGGAGGGGGTCAGTTCCATTACAGAACACACAGGCTGGATGCTGGAGCCCTTGCTTTGATTTGTGGCCCCAGCTCAGGCCAGGCCCACCCGGTCCATCAGTTTGCGAAGAAGGTGTGGCATGAGGCATGGCTGCCACTCACACTAGCCCATGGAGGGCCTGGGTCCTGAGCGCCCCCTCCCTCATTTGCTCTGCTCTGAGTACAGCTTCCCAGCTCACCATCAGATCTATTCTGAGCTTGTGCATTTGGCCTAGGCAAGACTGGCTGGCTGCTTGGGGCAGAGGGAGGGGCCCTGGGGACAAAAGGAGCTGGGTACAGGGGTTGCTCTAGCAGGCACAGCACAGACCCCGGAGAAAGCCCACAACAATAGCATTTCCTCTCCTCCCTGGTTCCAGGCCTTTAAGAAGTGGCACCAACGCCTGGCAGCCAGGAGCCCAAGGAGAGGAGCTGCCAGTAGCCCAAGACCCTGGAGCAAGCCAGGCCCCAAGGGCCCCGAGAGTGGACAGGAAGCCGCCAGAGCACCGCGGGGTTGGGGGCTTGGGGCAGAGCATGGGGCCCAGCTGCAGCTGTGACTTGTTCTCATAGAATAAAAAACAGAACTGAACTTAGCCTTCCCAGGGAAGGAACCATGCCCCACACATCCAGGGAGTGATGACAGAGGGGACAGCTTGAAGAGCTCTGAAGGACAATAAAACCCACTCCTCAGTCCTAGCTGCTGCTTTCAGTCTCTCCTAGCGGCTGCCCCTCTGCCCCAGCCAGTGAGGCCAGGAAGGGAGTAAAGAGGACATCCCACAATTGCGTCCACCCCCTTGGCCATCAGGCTGCTCTTCCACTACACGAAACAGCCCATCTGCACCTGCCAGTCACTGCCCCCAGGCCCTGGGGCTTGCAGGTGACTCGTGGGGAGCCAGGCCAGGCAGATAACCTCTGGGACAGGACGAGGGGATGAGGAAGGCAGCTGGCAGGACAAGGGCCTACCTGAAAAATACACCAGGAAGCTGGGCTGCTGCACAGGCCCAGGCAGATCTGGGGCCCCTGTGCTGGCAAATCTCATCTTAGCCTCTGACAGGGAACGGGGCAGCATCAGGCCTCCACAGCCAGGCAAAAGGGGAAGGCCACGAGCCCCACCAAGCACAAGGGTTCAGACTGCCTTCAACCCTTAAGGGGCACTTTTTCTCTCAAGGCTCAGAATAGACAACTGTGCCAAAAAGCAGCATGGTAGGTGTCAGCCCAATGCCCATCCAGGGGGCTGGTGCCATGGACGGCTAAGTGGGCAGGCAGGGCAGTGGTGTGCCCCTTCAGTCACAAGTAGGTGGGGCCCAGCTGCCCACCTCTAGGAGGTGGAAGGGTACAGCACTTTGCCACATCTCTTCTACGATGCCACCAGTGCCTGATGCCCTTGCGTGTTTTGCCTGTACTGCACGGGCTCCAAGTGTAAGTTCACTGGGAGTCCCAGGCTGGCTCTGGAGGCTGCCTTGGTTCGAGGGCTTAGTTGGCAACAACCACTCTCCTCGCCTTCTCAGGAGGTGCCACCCACTGTGGTCCTCTGCAGGACGCAAGTGCTCCCCACCAAAAGAGCACAGACTCCTGGCTAGAGCAGAGAGTACTAGGTTCCCATGTGGGGCCGACTCAGGTCCAGGAAGAGCCTGGAAGCCTCACTCCAGTCTAGCTGCCATTGTCAGGTGGGGGAGTGGAGGCCGGGGTGGGAGAGACACGAAGGAGAGTGGAGTTCCCAAGAGAAGCAGCACTGTGGAGGAGGAAGGCGGGACAGGAGTGGCTCCAACGCAGGGCGTCAGGACGCAGGGTCATGGAGCCTCCGTTTCTCTCGCATTCTGGGTGGGCCTGTTGAGAAGCTCCAATGTGTCTTCCACCACCTGCCAGAGGCAGTTGTCCAGTGGGAAGTCATTGTCCACCAGGTTGACCAGGAAGTAGTTGTCGTGGATGTACTGGATGATGGTGCGGGACGGGGACTCCTCCTCATACAGCTTTCCCCACCGCTCAATCCACAGGCAAAGGCCTCGTCCTACACACACATACCCCCGCACACACGCACACATGCACACACACACAGAGGCAAGATTAACAGGGCTCTCCAAGGGCTCTGCTCAACAGGACATTTCCCGGAATAGAACAAGGCCCACTGCCAGTATCACTTCCCACCCCTGCCCAGAAATAAACACCCTGCATCAGCAGTGACATGGGTGAGTCAGAGCTGGGTGTGCCCTGAAGGCTGGGTCCAGTGTGGCCTTCAGCACACGCTTGGGACTTGGTCCCAATCCCTCCCCACGGTTTTCCAGGTGGGCGGGGCAAGCTTGCCCCCGGCTCCTTTACCTTCCAGAACATGAAGCTGACGGGATCCACTACGGTGGGCTGGATGATCTCTCGCCCAGGGAAGATGCCCCAAGTGACAGCATTCGGCTGCAGTTCAGGGGCATTGGTGATGTTTTCACCCTGAGGGGATGTGGGGTGGGGGTAAGACCTGGGCCAAGAACAACTGGAGTCCCACTGCCTGGACAGCCTTGACTCAATGAGGCTGTCTGGGCTCAATACCCTCTGCCTGCGCCTCCACTCCCGGCCTCCACTCTCCCTGCGCCTCCACTCCCCTCTCCCTGTGCCTCCGCTCCTGGCCTCCTCTGCCTGCATCTGTGAATGATATCTCTCCCCACACAAGCCTGAACCTAGAGGCGTCCTGGCCACTTCCCCTCTCCTCCTTGAGCACCCCCTGCTCACTCTCTGATCCATTCCCTCTTGTCTAGCCCACCTCCAGGAGTGTGTTTGGCTTGGGTCACTCCAGGGGTCTCTTCACTGGCCTCCCCGGCTCTAGCCGTCCCCAATCTCTCTCATCCGTATGACTATCCACTGTGATTTGCCTAAAATAAAGCAGGAACCAAGCCACCCCACTGCTGGAGAAAGGCTTCCCTTGCATTGAGGGAAAACTCAAATTCCAGCAGGACAACCATGATCTCTGCGGGCCTGGCCCCTGCTTAACACTCCCGCCTCCTCCTGCTCATGTTCCCCGTTTCCCCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTCTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAN
|
pathogenic
| 2,820 |
Chromosome 1, position 11792367, gene MTHFR (methylenetetrahydrofolate reductase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive', 'Schizophrenia', 'Thrombophilia_due_to_thrombin_defect']
|
TGGGAGTCCCAGGCTGGCTCTGGAGGCTGCCTTGGTTCGAGGGCTTAGTTGGCAACAACCACTCTCCTCGCCTTCTCAGGAGGTGCCACCCACTGTGGTCCTCTGCAGGACGCAAGTGCTCCCCACCAAAAGAGCACAGACTCCTGGCTAGAGCAGAGAGTACTAGGTTCCCATGTGGGGCCGACTCAGGTCCAGGAAGAGCCTGGAAGCCTCACTCCAGTCTAGCTGCCATTGTCAGGTGGGGGAGTGGAGGCCGGGGTGGGAGAGACACGAAGGAGAGTGGAGTTCCCAAGAGAAGCAGCACTGTGGAGGAGGAAGGCGGGACAGGAGTGGCTCCAACGCAGGGCGTCAGGACGCAGGGTCATGGAGCCTCCGTTTCTCTCGCATTCTGGGTGGGCCTGTTGAGAAGCTCCAATGTGTCTTCCACCACCTGCCAGAGGCAGTTGTCCAGTGGGAAGTCATTGTCCACCAGGTTGACCAGGAAGTAGTTGTCGTGGATGTACTGGATGATGGTGCGGGACGGGGACTCCTCCTCATACAGCTTTCCCCACCGCTCAATCCACAGGGCAAAGGCCTCGTCCTACACACACATACCCCCGCACACACGCACACATGCACACACACACAGAGGCAAGATTAACAGGGCTCTCCAAGGGCTCTGCTCAACAGGACATTTCCCGGAATAGAACAAGGCCCACTGCCAGTATCACTTCCCACCCCTGCCCAGAAATAAACACCCTGCATCAGCAGTGACATGGGTGAGTCAGAGCTGGGTGTGCCCTGAAGGCTGGGTCCAGTGTGGCCTTCAGCACACGCTTGGGACTTGGTCCCAATCCCTCCCCACGGTTTTCCAGGTGGGCGGGGCAAGCTTGCCCCCGGCTCCTTTACCTTCCAGAACATGAAGCTGACGGGATCCACTACGGTGGGCTGGATGATCTCTCGCCCAGGGAAGATGCCCCAAGTGACAGCATTCGGCTGCAGTTCAGGGGCATTGGTGATGTTTTCACCCTGAGGGGATGTGGGGTGGGGGTAAGACCTGGGCCAAGAACAACTGGAGTCCCACTGCCTGGACAGCCTTGACTCAATGAGGCTGTCTGGGCTCAATACCCTCTGCCTGCGCCTCCACTCCCGGCCTCCACTCTCCCTGCGCCTCCACTCCCCTCTCCCTGTGCCTCCGCTCCTGGCCTCCTCTGCCTGCATCTGTGAATGATATCTCTCCCCACACAAGCCTGAACCTAGAGGCGTCCTGGCCACTTCCCCTCTCCTCCTTGAGCACCCCCTGCTCACTCTCTGATCCATTCCCTCTTGTCTAGCCCACCTCCAGGAGTGTGTTTGGCTTGGGTCACTCCAGGGGTCTCTTCACTGGCCTCCCCGGCTCTAGCCGTCCCCAATCTCTCTCATCCGTATGACTATCCACTGTGATTTGCCTAAAATAAAGCAGGAACCAAGCCACCCCACTGCTGGAGAAAGGCTTCCCTTGCATTGAGGGAAAACTCAAATTCCAGCAGGACAACCATGATCTCTGCGGGCCTGGCCCCTGCTTAACACTCCCGCCTCCTCCTGCTCATGTTCCCCGTTTCCCCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTCTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGAC
|
TGGGAGTCCCAGGCTGGCTCTGGAGGCTGCCTTGGTTCGAGGGCTTAGTTGGCAACAACCACTCTCCTCGCCTTCTCAGGAGGTGCCACCCACTGTGGTCCTCTGCAGGACGCAAGTGCTCCCCACCAAAAGAGCACAGACTCCTGGCTAGAGCAGAGAGTACTAGGTTCCCATGTGGGGCCGACTCAGGTCCAGGAAGAGCCTGGAAGCCTCACTCCAGTCTAGCTGCCATTGTCAGGTGGGGGAGTGGAGGCCGGGGTGGGAGAGACACGAAGGAGAGTGGAGTTCCCAAGAGAAGCAGCACTGTGGAGGAGGAAGGCGGGACAGGAGTGGCTCCAACGCAGGGCGTCAGGACGCAGGGTCATGGAGCCTCCGTTTCTCTCGCATTCTGGGTGGGCCTGTTGAGAAGCTCCAATGTGTCTTCCACCACCTGCCAGAGGCAGTTGTCCAGTGGGAAGTCATTGTCCACCAGGTTGACCAGGAAGTAGTTGTCGTGGATGTACTGGATGATGGTGCGGGACGGGGACTCCTCCTCATACAGCTTTCCCCACCGCTCAATCCACAGGGCAAAGGCCTCGTCCTACACACACATACCCCCGCACACACGCACACATGCACACACACACAGAGGCAAGATTAACAGGGCTCTCCAAGGGCTCTGCTCAACAGGACATTTCCCGGAATAGAACAAGGCCCACTGCCAGTATCACTTCCCACCCCTGCCCAGAAATAAACACCCTGCATCAGCAGTGACATGGGTGAGTCAGAGCTGGGTGTGCCCTGAAGGCTGGGTCCAGTGTGGCCTTCAGCACACGCTTGGGACTTGGTCCCAATCCCTCCCCACGGTTTTCCAGGTGGGCGGGGCAAGCTTGCCCCCGGCTCCTTTACCTTCCAGAACATGAAGCTGACGGGATCCACTACGGTGGGCTGGATGATCTCTCGCCCAGGGAAGATGCCCCAAGTGACAGCATTCGGCTGCAGTTCAGGGGCATTGGTGATGTTTTCACCCTGAGGGGATGTGGGGTGGGGGTAAGACCTGGGCCAAGAACAACTGGAGTCCCACTGCCTGGACAGCCTTGACTCAATGAGGCTGTCTGGGCTCAATACCCTCTGCCTGCGCCTCCACTCCCGGCCTCCACTCTCCCTGCGCCTCCACTCCCCTCTCCCTGTGCCTCCGCTCCTGGCCTCCTCTGCCTGCATCTGTGAATGATATCTCTCCCCACACAAGCCTGAACCTAGAGGCGTCCTGGCCACTTCCCCTCTCCTCCTTGAGCACCCCCTGCTCACTCTCTGATCCATTCCCTCTTGTCTAGCCCACCTCCAGGAGTGTGTTTGGCTTGGGTCACTCCAGGGGTCTCTTCACTGGCCTCCCCGGCTCTAGCCGTCCCCAATCTCTCTCATCCGTATGACTATCCACTGTGATTTGCCTAAAATAAAGCAGGAACCAAGCCACCCCACTGCTGGAGAAAGGCTTCCCTTGCATTGAGGGAAAACTCAAATTCCAGCAGGACAACCATGATCTCTGCGGGCCTGGCCCCTGCTTAACACTCCCGCCTCCTCCTGCTCATGTTCCCCGTTTCCCCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACNN
|
pathogenic
| 2,839 |
For chromosome 1, position 11793948, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive']
|
CCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTCTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCC
|
CCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTCTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCN
|
pathogenic
| 2,846 |
Determine whether the variant at chromosome 1, position 11794462, in gene MTHFR (methylenetetrahydrofolate reductase) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive', 'Schizophrenia', 'Thrombophilia_due_to_thrombin_defect']
|
GCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGA
|
GCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGANNNNNNNNNNNNNNN
|
pathogenic
| 2,863 |
Clinically, how would you classify the variant at chromosome 1, position 11794539, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive']
|
GGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGATCTTGCACCTTCCAACAGCACAGCACAGCCTGAACTAAAACAGTGAGTGGCTGGGCTCATGACTGATATGCTTCTGA
|
GGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGATCTTGCACCTTCCAACAGCACAGCACAGCCTGAACTAAAACAGTGAGTGGCTGGGCTCATGACTGATATGCTTCTGAN
|
pathogenic
| 2,864 |
Evaluate if the mutation on chromosome 1 at position 11795261 in MTHFR (methylenetetrahydrofolate reductase) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive']
|
ATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGATCTTGCACCTTCCAACAGCACAGCACAGCCTGAACTAAAACAGTGAGTGGCTGGGCTCATGACTGATATGCTTCTGACCCCAGAGATGACTCTCAGGGGAGGTGGCTCAGAGCCCAGTTCCAAGAGTGGGGGTGGATTGCTCCAAACTCCCACACTGTCCTGCCTTGAGCAGCCAAGCAAATCAGGCCTGCACTTGGTGGCCATAGAAAAGAGAAAATGCTACAGTTAGCACTGGCTGGGCAGCATCTGGGGTAGTAAGCTTGACTTTTCTCTAGGCACCGGATTAAACATTGTTTTTAATGTAACACTGAAATTACTCAGGGGTCCAAGATAGTGAAAAGCTAAAAACCAAGTTACACAAGGAAGAACTGAAGAAAGTGATGTTTTCTTCAAAGAAAATAATGGATGGCAGGGTGCGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTATGCCTGTAATAGCTACTCAGGAGGCTGAGTCAGGAAAATTGCTTGAACCCACGAGACAGAGGTTGCAGTGAGCCGAGATCGTACCATTGCACTCTAGCCTGGGCAACGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAATGAAAAGAATACAGAAACTCCTTTCAAATGTCCAAAGGTCTGTCCTGGGGAAAAAGGATCCACCATAGGTGAGTTTGTTTTGTTTTGTT
|
ATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTCGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGATCTTGCACCTTCCAACAGCACAGCACAGCCTGAACTAAAACAGTGAGTGGCTGGGCTCATGACTGATATGCTTCTGACCCCAGAGATGACTCTCAGGGGAGGTGGCTCAGAGCCCAGTTCCAAGAGTGGGGGTGGATTGCTCCAAACTCCCACACTGTCCTGCCTTGAGCAGCCAAGCAAATCAGGCCTGCACTTGGTGGCCATAGAAAAGAGAAAATGCTACAGTTAGCACTGGCTGGGCAGCATCTGGGGTAGTAAGCTTGACTTTTCTCTAGGCACCGGATTAAACATTGTTTTTAATGTAACACTGAAATTACTCAGGGGTCCAAGATAGTGAAAAGCTAAAAACCAAGTTACACAAGGAAGAACTGAAGAAAGTGATGTTTTCTTCAAAGAAAATAATGGATGGCAGGGTGCGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTATGCCTGTAATAGCTACTCAGGAGGCTGAGTCAGGAAAATTGCTTGAACCCACGAGACAGAGGTTGCAGTGAGCCGAGATCGTACCATTGCACTCTAGCCTGGGCAACGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAATGAAAAGAATACAGAAACTCCTTTCAAATGTCCAAAGGTCTGTCCTGGGGAAAAAGGATCCACCATAGGTGAGTTTGTTTTGTTTTGT
|
pathogenic
| 2,887 |
Clinically, how would you classify the variant at chromosome 1, position 11801362, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive']
|
TGGCCAATGGTGATTCTCTTTCCTGGGAATTTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTGCAGTGGGAAGCGGAGATGGGGGACCCTGTGGCCCCAGAGGGAATGAGGGAGGGCCTTGCTTTTTGACCTCTTCCAGTGCCTTGTGAGGTCTGAGGCCATCTCCTGATCTTGGGTTCCCTGCCCTCTGGAATCCTGTTAGTAAATATCCCTCTTTTGTGGGGTGTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGCCACTGAGGCTGGACTGCAGCGGCACCATCTCGGCTCACTGCAACCTCCGCCTCTTGGGTCCAAGAGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGCCGTGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTTGGCCAGGCAGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGGGTTACAGGTGTGAGCCACCGCGCCCAGACCCCTCTTTCGTTTTAAAGAAAAGAATAAGGCCAAGCAGGCTAAGGGCACAGCCAGGCAGAGGAACAAAAAGCTAGGGGTCGATGGTGGCAGGCCCAGGAGGGGAGTGGGTGATACAAAAGGAGCAAGGACATGGTGCAGTTCACCTCTGCATGTCCTTCATCCAGCATGGACCCATGAGTGCCCCTGATCACTGTGTCCTGAACCGAACACCGACAGGCTCTCTGGGCATCTCAGCCTCCCTAGCTCCATCCCCGCCACCAGGATGATCCAGCCACTCACCTGCCACACAGATGTCAAAGTAGTCACCAAACTCACTTCGGATGTGCTTCACCAGGTCCACTGCGTAGTTGAAGCCTCCCTCCTCCTCTTCCCACTGGTCACCTATTGGGTCTGCAGGGTTGGTGGAGGTCATAGTCACTGGGTCTCACCCAACCTCCAGAGACCCTTTCTGTTCCCTCTACCTAGCCCCGACACCCAGGACTGCGAGTCCCTGGAAGGCAGAAACTTCATATTATTTAGGTTTGGTTCGTCTCTTTCTAGCACTTGGTAAGACAGCAGGAGGGAAAAAAGCAGCCCACCAGTTCAATATTCACTGCATGCTGACCCTGTGCTGGCGGTGGAGAATAGGAGACCACCGCTGCTTCTCACCGTGCCTGGAGGATTGGAGAGCCCTTCCCTACTTCTACCTGGGCATGCCTGCCACCCTCTCCCATCCCACGGCCTTGGGGCTCCTGCCTCCTGGGAGAATTTTCTACTCATCTCAAGTGAAGGGGTCTTGTGGTAGGGAGCACGAGGCCATAGGATCCCACCCATCAGGCTCCCTCTTCCCACTCTTAGGTGGCCTGACAACAGCGGGCACCAGAGGCCTGACCGGCTATTCTCACTCCTGGATACTCTGTTACTCTGTGATTGGGCCAAGTGCTGGGTGCAGCCAGCAATCGATGCAGTGGTGTAGGCAAGGCAGAGGGTTATCAGGCCGCGACTGCATTCCTGACGGAACTCCTATGTCGAGGTCAAGAGGTGGAAGAGGTGGCTGCCTGTGTGTGGTGCCCAGGATGACTCACTACCCACAATGCCTACTGACACTACTGGCGGGGATGGGATCCTGCGGATCCTCAGCGTGGGGCCCAGGAAGAAGTAAAGGACCATTTCAGGAACCAAGTTCAGGCTACCAAGTGGCCTCCGGGAAAGCCAGAACCCAGAGTGTAGGGGAGTGCTGGCTCCACACCTCCCCGCAGCGCCATGATGTTCTTCAGGCCCAGCTGCTTAGCTTTGTGCAGATGGCCCGTGATCTCCTCCAGGCGCTGACGGCAGCAGGTCATGTGCAGGATGGTCTCCAGGCCACAGTAGTTCACGGCGGTGCTGGCGATCATCATGGAGGAGGTCTCCTTGTCTGAGCCAGGGTCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGGCCACCTGCTGCCATCCGGTCAAACCTGTAGGGGGTTTGTTTCTGAAGAGAGGTTCCAGGAGAAATACCATCCGTCACTGCCTTCCCATGGGGCCCGGGAGTTAGAGAAGCATCAATGAAGGTTGGAGACAGACCAATCAGCGTTCATATCCTGGCTTTGCTACTTATAGCTGTGTGATCTTGGGTACATTACTTAATCTCTGTGAGTTCTGTTTCCTTATTTATAAGACACGGCAGATAGTAGTACCCACTTCATAATAACACTAGGATGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTCAGGAGGCTGAAGTGAGTGGATCACTTGAGGTCAGGAGTTCCAGACCGCCTGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAGCCAGGAGGCAGAGGTTGCAATGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCCACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGCAACAACAACAACAAAAAACCATAACACTAGGAGAATATGACGGCAGCTGGTTCCACAGAACTTAGAACAGTGCCTGGTGTACAAACCGAATACTCAGTATATGTGAGGTGCCGTTATAATCACTATTACAGAGGTAAGACACAACAACAGCGCTATCATTTTGTGTGAGAGCAGCACTTCAGACTTTTCACAGCGCTTGCCTGTTTATTATCTCAGGTGAGTTAAGACATCATGATTGAGAGTTAGGGGAATCCTAACTGTGGCAAGCACAGCCTCGCTGTAGGAACAGTTAGAAAGAGGGTCAGCAGACTCACTTTCTTTCATGCCACCCCCCAAGCCCTGTGCAGCAGCTTACAGTTATGCAGACCAAGGCCAAGTTCCGAAACGAGACTCAAAAAAAAGCCTGGATGTGCACGAGTACTTGTGTTACAAGCTATCAACGGTGTATTTAAACATCCTTGTGCATTTAAACTTCAAAAACTTGGGAGTGACACGTGAGACGTGCATACAGTAAAAGGCATAAACTTAAAAAAAAAACTGCAATTCATGAAGTGCTAATGTAATTCAGTTGGCATTTCTAGAGTTCAAGAAGCATAATCCAAATTTCTAACTTGCTGAAAACAATCTCACTGCTTTGTGACTTCCTAAACTGCACTCGTGATCCAGCCCCCAAGTTCCCTCAAAGAATACAGTGTGAGAATCAACATTTTTAACCCATTGAAGAGTGTGTCTAAAATACCTTGACACTGTGGAGGGACTTTTACAGGCAACAGAGAAGTTGCAGATCAGATGACCCACTCTGCCTTCTCCTTCCTGCCCCCTCCGGCTGCTTTTTTCTGCCGGGTTAAAGGGCAGCCCAGCCTCAGGGCTGACAGTTTGCTCCCCAGGCACCACCACTCCCGCCTCCCACCTTAACCTTGCATGAGTTTACCTTGAGATGAGATTGACAGCTCCCTCAGCAGTTCGAGGAGGGAAGAATTCCAGGGAGAACCACTTGTCACCAGATTCCAATCGCCGCCTCATCTTCTCCCGGAGTCTCTCATGCCGCTCGGGGTCCAGGCCCGGGGTGGAACATCTCGAACTATCTTTGGAGCTCTCACTGCCACTGCTGGCACTGCCCTCCAAGCAGGGGTTGAGGCTGCTGTTTCCTCTGGCTTCGTTCACCATGGCTGGGTTCCTACTGCACAGGGTGGGGCAGGGAGCATCAGGGGGCAGGCAGCCACACCCCCGACACATCAAGACACCTGAGTGGCAGGTTCAAGCCGGAGGCGCTGTATTTCCACACAGGAAGAAGGCCAAAAAAGGTGACACTGCCCCCTCCCAGTGGCTCCATGCTCCTCAGCTATGGCTGTCCGGGCCGCCTCACTCAAAGCCTTGCCCTCCGCTGCTGCCAGGCTCCTTGCATGCAAGGCAGCCCCCACCCGGCACTGCAACATGCTCCTCGGTGACAGCTACCTGAT
|
TGGCCAATGGTGATTCTCTTTCCTGGGAATTTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTGCAGTGGGAAGCGGAGATGGGGGACCCTGTGGCCCCAGAGGGAATGAGGGAGGGCCTTGCTTTTTGACCTCTTCCAGTGCCTTGTGAGGTCTGAGGCCATCTCCTGATCTTGGGTTCCCTGCCCTCTGGAATCCTGTTAGTAAATATCCCTCTTTTGTGGGGTGTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGCCACTGAGGCTGGACTGCAGCGGCACCATCTCGGCTCACTGCAACCTCCGCCTCTTGGGTCCAAGAGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGCCGTGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTTGGCCAGGCAGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGGGTTACAGGTGTGAGCCACCGCGCCCAGACCCCTCTTTCGTTTTAAAGAAAAGAATAAGGCCAAGCAGGCTAAGGGCACAGCCAGGCAGAGGAACAAAAAGCTAGGGGTCGATGGTGGCAGGCCCAGGAGGGGAGTGGGTGATACAAAAGGAGCAAGGACATGGTGCAGTTCACCTCTGCATGTCCTTCATCCAGCATGGACCCATGAGTGCCCCTGATCACTGTGTCCTGAACCGAACACCGACAGGCTCTCTGGGCATCTCAGCCTCCCTAGCTCCATCCCCGCCACCAGGATGATCCAGCCACTCACCTGCCACACAGATGTCAAAGTAGTCACCAAACTCACTTCGGATGTGCTTCACCAGGTCCACTGCGTAGTTGAAGCCTCCCTCCTCCTCTTCCCACTGGTCACCTATTGGGTCTGCAGGGTTGGTGGAGGTCATAGTCACTGGGTCTCACCCAACCTCCAGAGACCCTTTCTGTTCCCTCTACCTAGCCCCGACACCCAGGACTGCGAGTCCCTGGAAGGCAGAAACTTCATATTATTTAGGTTTGGTTCGTCTCTTTCTAGCACTTGGTAAGACAGCAGGAGGGAAAAAAGCAGCCCACCAGTTCAATATTCACTGCATGCTGACCCTGTGCTGGCGGTGGAGAATAGGAGACCACCGCTGCTTCTCACCGTGCCTGGAGGATTGGAGAGCCCTTCCCTACTTCTACCTGGGCATGCCTGCCACCCTCTCCCATCCCACGGCCTTGGGGCTCCTGCCTCCTGGGAGAATTTTCTACTCATCTCAAGTGAAGGGGTCTTGTGGTAGGGAGCACGAGGCCATAGGATCCCACCCATCAGGCTCCCTCTTCCCACTCTTAGGTGGCCTGACAACAGCGGGCACCAGAGGCCTGACCGGCTATTCTCACTCCTGGATACTCTGTTACTCTGTGATTGGGCCAAGTGCTGGGTGCAGCCAGCAATCGATGCAGTGGTGTAGGCAAGGCAGAGGGTTATCAGGCCGCGACTGCATTCCTGACGGAACTCCTATGTCGAGGTCAAGAGGTGGAAGAGGTGGCTGCCTGTGTGTGGTGCCCAGGATGACTCACTACCCACAATGCCTACTGACACTACTGGCGGGGATGGGATCCTGCGGATCCTCAGCGTGGGGCCCAGGAAGAAGTAAAGGACCATTTCAGGAACCAAGTTCAGGCTACCAAGTGGCCTCCGGGAAAGCCAGAACCCAGAGTGTAGGGGAGTGCTGGCTCCACACCTCCCCGCAGCGCCATGATGTTCTTCAGGCCCAGCTGCTTAGCTTTGTGCAGATGGCCCGTGATCTCCTCCAGGCGCTGACGGCAGCAGGTCATGTGCAGGATGGTCTCCAGGCCACAGTAGTTCACGGCGGTGCTGGCGATCATCATGGAGGAGGTCTCCTTGTCTGAGCCAGGGTCACCTGCTGGGTGCCAGGTCACGTCTTATGTAGAGGGGGCCACCTGCTGCCATCCGGTCAAACCTGTAGGGGGTTTGTTTCTGAAGAGAGGTTCCAGGAGAAATACCATCCGTCACTGCCTTCCCATGGGGCCCGGGAGTTAGAGAAGCATCAATGAAGGTTGGAGACAGACCAATCAGCGTTCATATCCTGGCTTTGCTACTTATAGCTGTGTGATCTTGGGTACATTACTTAATCTCTGTGAGTTCTGTTTCCTTATTTATAAGACACGGCAGATAGTAGTACCCACTTCATAATAACACTAGGATGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTCAGGAGGCTGAAGTGAGTGGATCACTTGAGGTCAGGAGTTCCAGACCGCCTGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAGCCAGGAGGCAGAGGTTGCAATGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCCACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGCAACAACAACAACAAAAAACCATAACACTAGGAGAATATGACGGCAGCTGGTTCCACAGAACTTAGAACAGTGCCTGGTGTACAAACCGAATACTCAGTATATGTGAGGTGCCGTTATAATCACTATTACAGAGGTAAGACACAACAACAGCGCTATCATTTTGTGTGAGAGCAGCACTTCAGACTTTTCACAGCGCTTGCCTGTTTATTATCTCAGGTGAGTTAAGACATCATGATTGAGAGTTAGGGGAATCCTAACTGTGGCAAGCACAGCCTCGCTGTAGGAACAGTTAGAAAGAGGGTCAGCAGACTCACTTTCTTTCATGCCACCCCCCAAGCCCTGTGCAGCAGCTTACAGTTATGCAGACCAAGGCCAAGTTCCGAAACGAGACTCAAAAAAAAGCCTGGATGTGCACGAGTACTTGTGTTACAAGCTATCAACGGTGTATTTAAACATCCTTGTGCATTTAAACTTCAAAAACTTGGGAGTGACACGTGAGACGTGCATACAGTAAAAGGCATAAACTTAAAAAAAAAACTGCAATTCATGAAGTGCTAATGTAATTCAGTTGGCATTTCTAGAGTTCAAGAAGCATAATCCAAATTTCTAACTTGCTGAAAACAATCTCACTGCTTTGTGACTTCCTAAACTGCACTCGTGATCCAGCCCCCAAGTTCCCTCAAAGAATACAGTGTGAGAATCAACATTTTTAACCCATTGAAGAGTGTGTCTAAAATACCTTGACACTGTGGAGGGACTTTTACAGGCAACAGAGAAGTTGCAGATCAGATGACCCACTCTGCCTTCTCCTTCCTGCCCCCTCCGGCTGCTTTTTTCTGCCGGGTTAAAGGGCAGCCCAGCCTCAGGGCTGACAGTTTGCTCCCCAGGCACCACCACTCCCGCCTCCCACCTTAACCTTGCATGAGTTTACCTTGAGATGAGATTGACAGCTCCCTCAGCAGTTCGAGGAGGGAAGAATTCCAGGGAGAACCACTTGTCACCAGATTCCAATCGCCGCCTCATCTTCTCCCGGAGTCTCTCATGCCGCTCGGGGTCCAGGCCCGGGGTGGAACATCTCGAACTATCTTTGGAGCTCTCACTGCCACTGCTGGCACTGCCCTCCAAGCAGGGGTTGAGGCTGCTGTTTCCTCTGGCTTCGTTCACCATGGCTGGGTTCCTACTGCACAGGGTGGGGCAGGGAGCATCAGGGGGCAGGCAGCCACACCCCCGACACATCAAGACACCTGAGTGGCAGGTTCAAGCCGGAGGCGCTGTATTTCCACACAGGAAGAAGGCCAAAAAAGGTGACACTGCCCCCTCCCAGTGGCTCCATGCTCCTCAGCTATGGCTGTCCGGGCCGCCTCACTCAAAGCCTTGCCCTCCGCTGCTGCCAGGCTCCTTGCATGCAAGGCAGCCCCCACCCGGCACTGCAACATGCTCCTCGGTGACAGCTACCTGA
|
pathogenic
| 2,916 |
Is the chromosome 1, position 11950377 variant in PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1']
|
AGGCTAGTTTAGAGGACAGGGCCTCGGGATCAGCATTTCCACAAGTACCACCCCGTAATTTGGGGATGGGCACGGTCTAGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGACCGCAGGCTGGAGACCAAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCAT
|
AGGCTAGTTTAGAGGACAGGGCCTCGGGATCAGCATTTCCACAAGTACCACCCCGTAATTTGGGGATGGGCACGGTCTAGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGACCGCAGGCTGGAGACCAAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATN
|
pathogenic
| 3,006 |
Assess the variant on chromosome 1, position 11950455, impacting PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1']
|
AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGACCGCAGGCTGGAGACCAAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAG
|
AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCGACCGCAGGCTGGAGACCAAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAGN
|
pathogenic
| 3,010 |
A genetic variant on chromosome 1, position 11950455, affects the gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection']
|
AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGACCGCAGGCTGGAGACCAAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAG
|
AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAGNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 3,011 |
Variant in PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1), chromosome 1, position 11952620—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection']
|
GCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAGGTGACAGGGTTTGTGGGCATATGAGTGGAGGTGGATAAGAGGGAAGGGTGGGAGGAGGCCCCTGACTTAGAGGCTGGAAGCTAAGGGTCCGTCTTGGTGTCCCCACCCACCAACCTTCAGGCTTCATCGGTTATGCCCCCAACCTCAGCAAACTGGTGGCCGAGTGGGAGGGCCAGGACAGCGACAGCGATCAGCTGTTTTACACCAAGATCTTCTTGGACCCGGAGAAGAGGGTAAGAGGCAGTGGGCGGGCCAAGGAGAGGGGGCTGGGGATCCACCGGCCAGGCTGCACGGGAACAGCTCCTCTCAGGCCTGAACCCCTGGGTTGGTGTCTTAGTCTATGCAGGCTGCTCTGACAAACTGCCATAGGCTGGGTGGCTCCCAAACAACGGATGTGGATTTCTCATGGTTCTGGAGGCCGGAAGGGTGAGATCACAGTTGGGTTCTGGTCAGAGCCCTCTAACTGGTACAGACACAGCTGACTTCTCTCTGTGTCCTCAGATGGTGGAAGGGGGTAGGGAGCTCACTGGGGCCTCATTGATAAGGACACTAATCCTATTTTTTTATTTTTGGGATGGAGTCTCACTGTATTGCCCAGGCTAGAGTACAGTGGTGCGATCTCGGCTCACTACAGCCTCTACCTCCCTGGTTCAAGCGATTCTCGAGCCTCAGCGTCTCGAGTAGCGGGGACTACAGGCGTGCACCACCACGTTTGGCTGATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTACGTTCGCCAGGCTGGTCTCGAACTCCTGTCCTCAGGTGATTTACCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGTCGTGAGCCACCGTGCCCGGCTGTCGGGTCTTAAAGAGGCAGCATTGTTCATTGGTTCAGAATAAGGACTTCAGGGCCAGGCTGCCTGGGTTCCAATCCCAGCTCACCATTTACTAGCTGTGTGACATTGGGCAACTTCTCTGTCCCTTGTTTTTTCCGTTATGAAATGCAATAATGGGCCAGACCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGCCAAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATATAAAGATTAGCCGTGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTGCAGCCTGGGTGACAAGAGCCAGACTCCATCTCAAAAAAAAAAGCAATAATGATAATACTTTCTCACAGAGATGTTGTCAGGATTAAATTGATTAATATATGTAGAATAGTTTATTTATTTATTTGAGACAGGGTCTCACTGTCACCCAGGCTGATGCGCAGTGGCAGAAACATAGCTCACTGCAGCCTCAGCCTCCCGGACTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCCTGCGTCACCATGTCTGGCTAATTTTAAGATTTTTTTATAGAGATGAAGTTTTGCTATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTTCTGCCTCAGCCTCCCAAAGTGCTGGAATGACAGGAGTGAGCCACCGCACCCGACTCGTGTAGAATATTTGGAGTAGCGGCCAGGTGCGGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCGGGGGGCGGGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCTCAATGTGGTGAAATCCCATCTCTAGCAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCACATGCCCGTAGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGGTCGTGCCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCTTTCTCAAAAAAAAGAATATTTGGAGTAGCTATGTGCGTGTAGTGGAGTGCTTGGCAGGTGCTGGTTACTCTTAACGGCCGTCATTGTTGTAGGTGAGCCGGCTGCATTCTTAGATTCCTTCCAGTTCAGAGTCCCTGGTTTTCTGTGAGTAGAGCCACTAGACTGTAGACCCCAGGAGCTTGGCTG
|
GCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAGGTGACAGGGTTTGTGGGCATATGAGTGGAGGTGGATAAGAGGGAAGGGTGGGAGGAGGCCCCTGACTTAGAGGCTGGAAGCTAAGGGTCCGTCTTGGTGTCCCCACCCACCAACCTTCGGCTTCATCGGTTATGCCCCCAACCTCAGCAAACTGGTGGCCGAGTGGGAGGGCCAGGACAGCGACAGCGATCAGCTGTTTTACACCAAGATCTTCTTGGACCCGGAGAAGAGGGTAAGAGGCAGTGGGCGGGCCAAGGAGAGGGGGCTGGGGATCCACCGGCCAGGCTGCACGGGAACAGCTCCTCTCAGGCCTGAACCCCTGGGTTGGTGTCTTAGTCTATGCAGGCTGCTCTGACAAACTGCCATAGGCTGGGTGGCTCCCAAACAACGGATGTGGATTTCTCATGGTTCTGGAGGCCGGAAGGGTGAGATCACAGTTGGGTTCTGGTCAGAGCCCTCTAACTGGTACAGACACAGCTGACTTCTCTCTGTGTCCTCAGATGGTGGAAGGGGGTAGGGAGCTCACTGGGGCCTCATTGATAAGGACACTAATCCTATTTTTTTATTTTTGGGATGGAGTCTCACTGTATTGCCCAGGCTAGAGTACAGTGGTGCGATCTCGGCTCACTACAGCCTCTACCTCCCTGGTTCAAGCGATTCTCGAGCCTCAGCGTCTCGAGTAGCGGGGACTACAGGCGTGCACCACCACGTTTGGCTGATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTACGTTCGCCAGGCTGGTCTCGAACTCCTGTCCTCAGGTGATTTACCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGTCGTGAGCCACCGTGCCCGGCTGTCGGGTCTTAAAGAGGCAGCATTGTTCATTGGTTCAGAATAAGGACTTCAGGGCCAGGCTGCCTGGGTTCCAATCCCAGCTCACCATTTACTAGCTGTGTGACATTGGGCAACTTCTCTGTCCCTTGTTTTTTCCGTTATGAAATGCAATAATGGGCCAGACCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGCCAAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATATAAAGATTAGCCGTGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTGCAGCCTGGGTGACAAGAGCCAGACTCCATCTCAAAAAAAAAAGCAATAATGATAATACTTTCTCACAGAGATGTTGTCAGGATTAAATTGATTAATATATGTAGAATAGTTTATTTATTTATTTGAGACAGGGTCTCACTGTCACCCAGGCTGATGCGCAGTGGCAGAAACATAGCTCACTGCAGCCTCAGCCTCCCGGACTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCCTGCGTCACCATGTCTGGCTAATTTTAAGATTTTTTTATAGAGATGAAGTTTTGCTATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTTCTGCCTCAGCCTCCCAAAGTGCTGGAATGACAGGAGTGAGCCACCGCACCCGACTCGTGTAGAATATTTGGAGTAGCGGCCAGGTGCGGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCGGGGGGCGGGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCTCAATGTGGTGAAATCCCATCTCTAGCAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCACATGCCCGTAGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGGTCGTGCCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCTTTCTCAAAAAAAAGAATATTTGGAGTAGCTATGTGCGTGTAGTGGAGTGCTTGGCAGGTGCTGGTTACTCTTAACGGCCGTCATTGTTGTAGGTGAGCCGGCTGCATTCTTAGATTCCTTCCAGTTCAGAGTCCCTGGTTTTCTGTGAGTAGAGCCACTAGACTGTAGACCCCAGGAGCTTGGCTGN
|
pathogenic
| 3,017 |
The genetic variant at chromosome 1, position 11956963, affecting gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1']
|
GGGTGGATCCTCAGAGGGGTGATAGGAAGAATTCCAGGCAGGGCCCGAGCCCAGGGAGGAGAAATGGGCTGCTTCTTTCTGGCCATTGTGCTGAGAGGTCACTGGCCTCATCCCCAGGTCCCCAGGGGCCACTTGGATATCCTGGCGCAGAGCCATGTCTCTCTTGGGGGCGGGGGACAAGTGAGCATTCAGCCTGGGAGGAGTTGGGGGATGCGCACAGCAGGTGCTGGACCCCCTGCCCTGCATACCAGGTCCTTACAGGTGGGCCCTCTTTCCCCACTTTCCCGGCCCTCCCACCTTCCAGGTGAAGGAGTCCTGGGCTAGGGGCAGGAACTCAGCTGGTGGGACAGGCAGCTTGGGAAGCAAAAGGCTACTTGACCCTTGATGCCGCAAACATCCCTGGGCCTGGCCTCATGTCTGTGGCTGGTGATGACATTGCTTTGCCGCAGGTCTTCCTGTCTTCCTGAGTGACCTCAGGCAAGTCACACCTCCTCCCCACAGGGGACTCAGTTTTCTTATCTTTACAAAAGGGAAGTGAACCGGATCCACTGATTGCTGATTTTGTGGATAAATGGGCCCTTTTGAGAATCTGATGAAAGCTACGGCTCTGCTCCCAGAGAAACGCAGAAAATGCCCTTTGCCTGTGGTTTCTGGGGGTTAAGAAGCACTGAGTTCAGATCCACGCAGGTCAGGAGCTATCTGTTTTCCTTTTTTTTTCTTCTTTTTTAAGATGGAGTCTTGCTCCATCGCCCAGGCTGGAATGCAGTGGCGAATTCTCGACTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGACGTGAGCCATCGTGCCCAGCCCTATTTTAATTTTTAAAATAGAGACAGGGTCTCACTATGTTGCGCAGGCTTGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCAGCGTGCCCAGCTGAAATACCCATTTTCCTATGTGCAGACTAATAGGGTCAAACATGGGTATTGGGGGCCAGGCACTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCAGAGGTCATGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTACACTCCACACTGGGCAATAGAATGAGACTCCATTTCTAAAAAACAAAAAACAAAAACACACACAAAAAACATGAGTATTGGAACCCTGCTGCAGGGGCTCCCTCCACTGGGACAAGATCTGTCCTGATCATGCCCAGGCCTCCCCTGCATGTGGCTCTGGCATTTTCTCAGTGCTGCTCTGCCTACTCAGAGAAGGCGCGTCCCAGACCCTTTCTCTTGGGGCTTCTCTGAGGTGCCTGGAGCTGGGATGTTCCAGGTCTTCGTTCTTCTCCCAGCCCCTGCTTCTGACTGTAAGTAACCACAACAAGTACAGGGGTTGCCGTGGATTCTGTGCTCATGATGGGCCAGGCTTGGTGCCCCACGCTTGTTCAACACAAATCCTCCCCCTCACCCCATGAAGAAGGGATTATTCCTATTTTATAGATGAGGAAACTGAGGCTTAGAGAGAAGTGACTTGCCCGAGGACATAATCTACTCACTGCACAGCTGGGATTTGAGCCCAGCTGGTTGGACCCTGAGCCTGACCTCTGGGTCTGATGCTGGGTGGGACTGTGCTTTCTGACCCCCAGATGAGGTCGTGCTCAAGTTTGAAATGGGCCATGTGAGAGCGAGGAACCTGGCCTATGACACCCTCCCGGTCCTGATCCATGGCAACGGGCCAACCAAGGTAGGGGGTCCCCAGCCCCTGGGGAGTGTGGGAGGGGGCCAGAGCCCTAATTTCATTCTCACTGTGACCCCACAGTGTCTCCCTGGGGCCAGGGCCACCTTCCTGGGGCCTGCTATGAACTCACTGCCTCTGTCCTCACATCTGAGCTCAGCGTGATGCCTTCTTTTCCTGCTGTGGTGGTCAGTGGTACTCTGTCTGTTCTTGCTGGTCACAGGACACGTAGGAGGCTGCCATCCCCTTCCAGGCCTAGGCTGGGCTACCAGAGCCATCTGCACTGTCACCCCAGGGCAGAGTCACTTATTCACTCAGTAAACCTTTATTTCATGTTTGCACCAGACAGTAAGACATAGTCATAAGCAGGACGGATGTCCTGCATTCATGGTGACAGAAGGGACTGGGTGCAGATGCGGCCAGGGACAGAATGGACCTCACTGGTCCCTGGGGAACTGGCTCATAGCTCATAGCATATTTGAGTGTGGTCCTTCACCGCTGGAATGAGGGAGAGGAAGGAGGATGTGATGTGTTTAAAATGCAAATTTGCTGATTTCACCCAGGATCTGTTCAGATGGAATCTCTGAGCGGGGTGGGACCCAGGAATCTGCATTTTACAAGCTCTCGGGAGAAGCACTAGAGTGCCAAGCCCTCCCCTGCCCTCTCTCAGAGCGGCTTGGTGATCTCCTGGGGATGGAGCATTATCTCCAAGACCCTCTTAGGGAGTGGGAGGGGGCTGGATGGTGCTGACCCACTGGGGGCCCAGGGAGATGTGAGTCAGGGCTATGGCAGGTGGGGCTGGCTGGCTTCTCTGTGACCCCACGTCTCCCCGACAGCTGCAGTTGAACTACCTGGGCAACTACATCCCGCGCTTCTGGACCTTCGAAACAGGCTGCACCGTGTGTGACGAAGGCTTGCGCAGCCTCAAGGGCATTGGGGTGAGGCTGCGCCCAGGCCTGTGCCTGAGGGACACGGGGGGCTCAGTCCCCTGAGATGGCGAGATGGGTGATTCTGGAATAGACTCCATTGTCTTTGGTGGAAAGTGAAGGGGTCACCTCCCTGCCTGGGGTTCTATCCCGGTTGCCACCCAAGTGCCTCCTCCTGGAAGCCCTCTCAGATTGCATGTCTCTAGCTTCCCCCGAGATGTCCAGGTTCTGGTTTCTTCTGCCTGGTCCTTCAGGCTCTCCTGCAGCCCCCTCCCCATCCCATGAACCTCATCCTCATTTATGACTCACCTCGAACACCACGCCAGCCACGATCTCCTGACAGCAGGCCCTCAACCGAGTCCTTGTTCCAGGCCTGGGCTCCTGCTGCTCTCTCCCCGGGGCACCCTCCTGCTGCTTCCCTGCCCCCCCGTACCCCCTGACTGGAGTTCCCCGGCCCGGGCACCTTTCTTGGGAAGTCTACATGCTTCTGATTCTGGCTCTGACTCCCTTGGGCCACCCTGGGGTGGAGTGGCAGTGCTGTGACTGGACACTGCTGGACTCTTGTGCCGCCCTCCCTGGTGCAGGATGAAGCTCTGCCCACGGTCCTGGTCGGCGTGTTCATCGAACAGCCCACGCCGTTTGTGTCCCTGTTCTTCCAGCGGCTCCTGCGGCTCCACTACCCCCAGAAACACATGCGACTTTTCATCCACAACCACGTGAGTAACAGGCGCTCTGTGGGGTCGTCATGTGGCTTAGATCCAGGGCCCAGCTTCACAAGGTAGCCCGAGACCTCTGAGGGTCTCACCGAATCTAGCTTATCTGGGCCAAATGACAATCACCAGTGGACTGTGTCCCCAAATCACTGAGTTAACTTTGGAGTCAGACTGGGTGAGTTTGAATCCCAGCGCCGCTATTTTATTGGCTGTGTGACCTTGGGCACATTACTCAACCTCTCTGTGCTTTAGTTTCTCATCTATAAAATAGGCATAAAAGTCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGCAGATTATCTGAGGTCGGGAGTTCGAGACTAG
|
GGGTGGATCCTCAGAGGGGTGATAGGAAGAATTCCAGGCAGGGCCCGAGCCCAGGGAGGAGAAATGGGCTGCTTCTTTCTGGCCATTGTGCTGAGAGGTCACTGGCCTCATCCCCAGGTCCCCAGGGGCCACTTGGATATCCTGGCGCAGAGCCATGTCTCTCTTGGGGGCGGGGGACAAGTGAGCATTCAGCCTGGGAGGAGTTGGGGGATGCGCACAGCAGGTGCTGGACCCCCTGCCCTGCATACCAGGTCCTTACAGGTGGGCCCTCTTTCCCCACTTTCCCGGCCCTCCCACCTTCCAGGTGAAGGAGTCCTGGGCTAGGGGCAGGAACTCAGCTGGTGGGACAGGCAGCTTGGGAAGCAAAAGGCTACTTGACCCTTGATGCCGCAAACATCCCTGGGCCTGGCCTCATGTCTGTGGCTGGTGATGACATTGCTTTGCCGCAGGTCTTCCTGTCTTCCTGAGTGACCTCAGGCAAGTCACACCTCCTCCCCACAGGGGACTCAGTTTTCTTATCTTTACAAAAGGGAAGTGAACCGGATCCACTGATTGCTGATTTTGTGGATAAATGGGCCCTTTTGAGAATCTGATGAAAGCTACGGCTCTGCTCCCAGAGAAACGCAGAAAATGCCCTTTGCCTGTGGTTTCTGGGGGTTAAGAAGCACTGAGTTCAGATCCACGCAGGTCAGGAGCTATCTGTTTTCCTTTTTTTTTCTTCTTTTTTAAGATGGAGTCTTGCTCCATCGCCCAGGCTGGAATGCAGTGGCGAATTCTCGACTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGACGTGAGCCATCGTGCCCAGCCCTATTTTAATTTTTAAAATAGAGACAGGGTCTCACTATGTTGCGCAGGCTTGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCAGCGTGCCCAGCTGAAATACCCATTTTCCTATGTGCAGACTAATAGGGTCAAACATGGGTATTGGGGGCCAGGCACTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCAGAGGTCATGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTACACTCCACACTGGGCAATAGAATGAGACTCCATTTCTAAAAAACAAAAAACAAAAACACACACAAAAAACATGAGTATTGGAACCCTGCTGCAGGGGCTCCCTCCACTGGGACAAGATCTGTCCTGATCATGCCCAGGCCTCCCCTGCATGTGGCTCTGGCATTTTCTCAGTGCTGCTCTGCCTACTCAGAGAAGGCGCGTCCCAGACCCTTTCTCTTGGGGCTTCTCTGAGGTGCCTGGAGCTGGGATGTTCCAGGTCTTCGTTCTTCTCCCAGCCCCTGCTTCTGACTGTAAGTAACCACAACAAGTACAGGGGTTGCCGTGGATTCTGTGCTCATGATGGGCCAGGCTTGGTGCCCCACGCTTGTTCAACACAAATCCTCCCCCTCACCCCATGAAGAAGGGATTATTCCTATTTTATAGATGAGGAAACTGAGGCTTAGAGAGAAGTGACTTGCCCGAGGACATAATCTACTCACTGCACAGCTGGGATTTGAGCCCAGCTGGTTGGACCCTGAGCCTGACCTCTGGGTCTGATGCTGGGTGGGACTGTGCTTTCTGACCCCCAGATGAGGTCGTGCTCAAGTTTGAAATGGGCCATGTGAGAGCGAGGAACCTGGCCTACCTCTGGCCTATGACACCCTCCCGGTCCTGATCCATGGCAACGGGCCAACCAAGGTAGGGGGTCCCCAGCCCCTGGGGAGTGTGGGAGGGGGCCAGAGCCCTAATTTCATTCTCACTGTGACCCCACAGTGTCTCCCTGGGGCCAGGGCCACCTTCCTGGGGCCTGCTATGAACTCACTGCCTCTGTCCTCACATCTGAGCTCAGCGTGATGCCTTCTTTTCCTGCTGTGGTGGTCAGTGGTACTCTGTCTGTTCTTGCTGGTCACAGGACACGTAGGAGGCTGCCATCCCCTTCCAGGCCTAGGCTGGGCTACCAGAGCCATCTGCACTGTCACCCCAGGGCAGAGTCACTTATTCACTCAGTAAACCTTTATTTCATGTTTGCACCAGACAGTAAGACATAGTCATAAGCAGGACGGATGTCCTGCATTCATGGTGACAGAAGGGACTGGGTGCAGATGCGGCCAGGGACAGAATGGACCTCACTGGTCCCTGGGGAACTGGCTCATAGCTCATAGCATATTTGAGTGTGGTCCTTCACCGCTGGAATGAGGGAGAGGAAGGAGGATGTGATGTGTTTAAAATGCAAATTTGCTGATTTCACCCAGGATCTGTTCAGATGGAATCTCTGAGCGGGGTGGGACCCAGGAATCTGCATTTTACAAGCTCTCGGGAGAAGCACTAGAGTGCCAAGCCCTCCCCTGCCCTCTCTCAGAGCGGCTTGGTGATCTCCTGGGGATGGAGCATTATCTCCAAGACCCTCTTAGGGAGTGGGAGGGGGCTGGATGGTGCTGACCCACTGGGGGCCCAGGGAGATGTGAGTCAGGGCTATGGCAGGTGGGGCTGGCTGGCTTCTCTGTGACCCCACGTCTCCCCGACAGCTGCAGTTGAACTACCTGGGCAACTACATCCCGCGCTTCTGGACCTTCGAAACAGGCTGCACCGTGTGTGACGAAGGCTTGCGCAGCCTCAAGGGCATTGGGGTGAGGCTGCGCCCAGGCCTGTGCCTGAGGGACACGGGGGGCTCAGTCCCCTGAGATGGCGAGATGGGTGATTCTGGAATAGACTCCATTGTCTTTGGTGGAAAGTGAAGGGGTCACCTCCCTGCCTGGGGTTCTATCCCGGTTGCCACCCAAGTGCCTCCTCCTGGAAGCCCTCTCAGATTGCATGTCTCTAGCTTCCCCCGAGATGTCCAGGTTCTGGTTTCTTCTGCCTGGTCCTTCAGGCTCTCCTGCAGCCCCCTCCCCATCCCATGAACCTCATCCTCATTTATGACTCACCTCGAACACCACGCCAGCCACGATCTCCTGACAGCAGGCCCTCAACCGAGTCCTTGTTCCAGGCCTGGGCTCCTGCTGCTCTCTCCCCGGGGCACCCTCCTGCTGCTTCCCTGCCCCCCCGTACCCCCTGACTGGAGTTCCCCGGCCCGGGCACCTTTCTTGGGAAGTCTACATGCTTCTGATTCTGGCTCTGACTCCCTTGGGCCACCCTGGGGTGGAGTGGCAGTGCTGTGACTGGACACTGCTGGACTCTTGTGCCGCCCTCCCTGGTGCAGGATGAAGCTCTGCCCACGGTCCTGGTCGGCGTGTTCATCGAACAGCCCACGCCGTTTGTGTCCCTGTTCTTCCAGCGGCTCCTGCGGCTCCACTACCCCCAGAAACACATGCGACTTTTCATCCACAACCACGTGAGTAACAGGCGCTCTGTGGGGTCGTCATGTGGCTTAGATCCAGGGCCCAGCTTCACAAGGTAGCCCGAGACCTCTGAGGGTCTCACCGAATCTAGCTTATCTGGGCCAAATGACAATCACCAGTGGACTGTGTCCCCAAATCACTGAGTTAACTTTGGAGTCAGACTGGGTGAGTTTGAATCCCAGCGCCGCTATTTTATTGGCTGTGTGACCTTGGGCACATTACTCAACCTCTCTGTGCTTTAGTTTCTCATCTATAAAATAGGCATAAAAGTCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGCAGATTATCTGAGGTCGGGAG
|
pathogenic
| 3,033 |
Evaluate this variant at chromosome 1, position 11964227, gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1']
|
CTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGTGATGACCTTCACATAATTTTTACATCTTCTTTTGATTTTTGTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCAATATTGGCTCACTGCAAGCTCTGCCTCCCACGTTCACGCCATTCTCCTGTCTTAGCCTCCCGAGTAGCTGTGACTACAGGTGCCCACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCATCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCTGCCGATTTGTTTTTTTCTTGAAACAACTTAAAAACATAAAATCAGCCAAGTGCAGTGGCTGTAATCCCAGCACTTTGGGAGGCCAAGGATTGCTTGAGCTGGGGAAGTTGAGGCTGCAGTGAGCTATGATTGTGCATTCCAGCTTGGCTGACACAGTGAGACCCCCATCTCTAAAAAAGGAAAAAAGGCCGGGTGCAGTGGCTCGCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGTGCACGCCTCTAATCCCAGCTACTTGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCATTCCAGCCTGGGCAACAGAGTGAGACTCGTTCTCAAAAAAATAAAATAAAATAAAAATAAAAAAAAGAAAAACATAAAGCTGTTCTTAGCCCATGAGCTGTACAAAACCAGGCAGGGCCAGAGTTTGACTCACAGACCCTCGTTTGCTGAGTCCTGTACCAGATAAACAAAAGTAACACAGATTTTTAAGGCTTTTGGTACAAGTTACCAAATTGCATTTCAGAAAGGCAGCCCCAGCTTACTCCCCACCCTGGGCCATGTAGGCACCTGTGGGCTGTGTTCTTCCCAGTACCAGGATTTTCAGGGCACTTGATACCAGTTGCCAACCTCTGGGCCTTGGGTGAGAGAGCCCAGCAGTCCAGGGGTTTGGGACTCAGAGTCGGGAGGAACCTTTGAGGCTGCTGGTGTGACCTCTCTAAAGCCCCTTGGCTGATATGTGGTGAAGCCAGACTGTGGTCACAGATGTGAGCAGCCACCAGTAGCTCCAGGATCAGGTGCACTGACCCTGTGTCCTCCTCCTTGCAGAGACCTGTGCCGGCAGGACCGCAGCTGCACCTACTACTTCAGCGTGGATGCTGACGTGGCCCTGACCGAGCCCAACAGCCTGCGGCTGCTGATCCAACAGAACAAGTGAGGCTGCTCCGTCTGCACCCAGCACTGCTCAGGACTGGCCTGGTCCTGGGGTGGCAGCCCTCCTTGCCTTCCTCCTCCTCCTCCTCATCCACCTCCTCTTCCTCCTCTTTTTCCTTCTCCTGCTCCTCTTTCTCCTCCTCGTCTTCCTCCTTGTCTTCCTCCTCCTCTTCCTCTTCCTCCTCTTCCTCCTTTTTCCTCCTCCTCCTCGTCTTCCTCATCCTCTTTCTCCTCCTCCTCTTCCTCCTCCTCCTTGGCCTCACCTATTACCCAGAGCTGTGGATCCCCAGCCTGATACCCCAGGTTCTGATAGAGAAGGTGTCCTGCCCTGTCTGCTCCTGGCTGCCCCATGGGAGGGAGCAGGTACCAGAAGAGCCAAACCCCCGACACCCCGGCCAAGGCACTGCCTGTCTCAGTGAGGTGCTTGGGGATCCCTGCGTGCAGGTTGAGGGGCACCTACCTCCCCCCATCCCTGGTTAGTGCTGTCTCCTACTCCCAGTGGGCAGCGACCTCCTACTGAGGTGCTCCCTTCCCTCAGGAACGTCATTGCCCCGCTGATGACCCGGCATGGGAGGCTGTGGTCGAACTTCTGGGGGGCTCTCAGTGCAGATGGCTACTATGCCCGTTCCGAGGACTACGTGGACATTGTGCAGGGGCGGCGTGTGTGAGTACCTGCAGGGTGGGGGTGGGTGGGGGACACCTTCATCTGGCTTCTGCCTGGGCTTGTGGGGCTCCCTCCCTATTATTCCTGTTCTTGTTACCCTCAAATTCCTGTTGAACCTGAAGCAAGGAAGACTTCAGTTAGACACACAGAAGGACTTCCTGACAAATAGGCCCATGTGTCCAGGGCGGGGGAATCAAATCAGCACAATTGTGCCCCCCTAGCCTGTGACTTCCCTTCTCACACCCAGACTCCAGGCTATGACTCCCCACCACCACCCTGTGACCCCCTCCATCTTCCCCACCACCAGCCTCTGACCCCCACCCGCTTTCTGTCTCTCCCACAGTGGTGTCTGGAATGTGCCCTATATTTCAAACATCTACTTGATCAAGGGCAGTGCCCTGCGGGGTGAGCTGCAGTCCTCAGATCTCTTCCACCACAGCAAGCTGGACCCCGACATGGCCTTCTGTGCCAACATCCGGCAGCAGGTCAGCCAGGAGCGGGCAGCACAGGACGCCCTCTGGATGGGGCAGGCGGGAAGGTGGGCCTCCAGCTCTGACCCTCATGGTGGGCCGCCTTGTCACCGTAGGCCTGGGAGCTCCAGAGATTCTAGCAGGGCATCTCGGAAGCCACCAGGGCCTGCTGGAGGAATGGGGGCCGTCGGGCACGAGGGCTGGTCCTCAGGGGTCTGCAGGGACCATTTTAGCTGACCTGGTTTTTATACCATCTATTTTATTTACATTTTTGGAATAGCCCAAAGAAAACGGAACTTTCCACCTAAAGGTACTCCAAGTGATGTGCCCGAGAGACACCTCACCCTGTCTCTGCGCCCCACCCCATATATTTTTGTGACTTTTTTTTTTTTTTTAAACATGCAGCAAGATGAAGTTTTCCCCTGTGACCAACATTTCAGGACCAGAACACGCTCCTTTTCTTTTACGCATTTTTTCTTTCATTCTGTGTTCAGTCCTCTGGGAAGACTTCCCTGATCACATTCTTAGTGTCAGGCCTGGGCTGGGCCCTGGGGACATAGCGGTGACTGCACTTGGTCTCTGATATTGGGAACTTCAGTTCGGCGGGTGGAGGAGGCTGCACTGTTGCCCGTCTGGGAGCGTGCAGGGGAGGGGTGAGGGCAGGGGAGGGGTGGGGGAGCGCCTCTTCCACCGGGCCTGTCCTCCCCAGGATGTGTTCATGTTCCTGACCAACCGGCACACCCTTGGCCATCTGCTCTCCCTAGACAGCTACCGCACCACCCACCTGCACAACGACCTCTGGGAGGTGTTCAGCAACCCCGAGGTGAGGCCAGGGTGGGCACATAGGGGCTGGGAGCAAAGGGGCCCAGTGATCCTGCAGTCGGAGGGACTTCCCTCTCAGAGTCTTACAACAGCCAGGACCCCTGTAGGCCACCTGCCACCCTCCCTTCACCCCAGGAGGCTATAGGGCAGGATTTGGGTAGGGAGAGAAGGGTGTCCAGAGAGGCAACACCATCTATTGGAGGAGGGACCAGGACTCAAGAGGCCTGGGTTTGTGGCCTAGATCTGCCATCATCTGGGACTTAGTTGAGCCTTCCAGCTTTGGGGACCTTAGTTATCTTAGCTCCAAAATGGGTATACTGTCCCAGCCTGTCTTACCCATGAGGGTGTTGTGATGATCAGAAGGGGAGACAGTTGTAACTGTTTCTAGACGTTGGGAGCTCACAGCTGATGGGTGTAAGCACATGCCTGCACACAGACATATACACACAAGCACACACATGTACATACATGTGCAAACACCACCTCCTATGGGCACACCTGTGCACCCAGACAACACACACGCACCCAGTGGGTGCAGGTGAACACCTGCCTCTGTCAAGCACGTACACCTTCACTCCCACTTTGAGGGGTCTGCTCTGAGCATCCCTGGCAGTTGAGCCAATGGTGAGGACCCTAGCCTGCTTCCCACTTCCCACAGGACTGGAAGGAGAAGTACATCCAC
|
CTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGTGATGACCTTCACATAATTTTTACATCTTCTTTTGATTTTTGTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCAATATTGGCTCACTGCAAGCTCTGCCTCCCACGTTCACGCCATTCTCCTGTCTTAGCCTCCCGAGTAGCTGTGACTACAGGTGCCCACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCATCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCTGCCGATTTGTTTTTTTCTTGAAACAACTTAAAAACATAAAATCAGCCAAGTGCAGTGGCTGTAATCCCAGCACTTTGGGAGGCCAAGGATTGCTTGAGCTGGGGAAGTTGAGGCTGCAGTGAGCTATGATTGTGCATTCCAGCTTGGCTGACACAGTGAGACCCCCATCTCTAAAAAAGGAAAAAAGGCCGGGTGCAGTGGCTCGCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGTGCACGCCTCTAATCCCAGCTACTTGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCATTCCAGCCTGGGCAACAGAGTGAGACTCGTTCTCAAAAAAATAAAATAAAATAAAAATAAAAAAAAGAAAAACATAAAGCTGTTCTTAGCCCATGAGCTGTACAAAACCAGGCAGGGCCAGAGTTTGACTCACAGACCCTCGTTTGCTGAGTCCTGTACCAGATAAACAAAAGTAACACAGATTTTTAAGGCTTTTGGTACAAGTTACCAAATTGCATTTCAGAAAGGCAGCCCCAGCTTACTCCCCACCCTGGGCCATGTAGGCACCTGTGGGCTGTGTTCTTCCCAGTACCAGGATTTTCAGGGCACTTGATACCAGTTGCCAACCTCTGGGCCTTGGGTGAGAGAGCCCAGCAGTCCAGGGGTTTGGGACTCAGAGTCGGGAGGAACCTTTGAGGCTGCTGGTGTGACCTCTCTAAAGCCCCTTGGCTGATATGTGGTGAAGCCAGACTGTGGTCACAGATGTGAGCAGCCACCAGTAGCTCCAGGATCAGGTGCACTGACCCTGTGTCCTCCTCCTTGCAGAGACCTGTGCCGGCAGGACCGCAGCTGCACCTACTACTTCAGCGTGGATGCTGACGTGGCCCTGACCGAGCCCAACAGCCTGCGGCTGCTGATCCAACAGAACAAGTGAGGCTGCTCCGTCTGCACCCAGCACTGCTCAGGACTGGCCTGGTCCTGGGGTGGCAGCCCTCCTTGCCTTCCTCCTCCTCCTCCTCATCCACCTCCTCTTCCTCCTCTTTTTCCTTCTCCTGCTCCTCTTTCTCCTCCTCGTCTTCCTCCTTGTCTTCCTCCTCCTCTTCCTCTTCCTCCTCTTCCTCCTTTTTCCTCCTCCTCCTCGTCTTCCTCATCCTCTTTCTCCTCCTCCTCTTCCTCCTCCTCCTTGGCCTCACCTATTACCCAGAGCTGTGGATCCCCAGCCTGATACCCCAGGTTCTGATAGAGAAGGTGTCCTGCCCTGTCTGCTCCTGGCTGCCCCATGGGAGGGAGCAGGTACCAGAAGAGCCAAACCCCCGACACCCCGGCCAAGGCACTGCCTGTCTCAGTGAGGTGCTTGGGGATCCCTGCGTGCAGGTTGAGGGGCACCTACCTCCCCCCATCCCTGGTTAGTGCTGTCTCCTACTCCCAGTGGGCAGCGACCTCCTACTGAGGTGCTCCCTTCCCTCAGGAACGTCATTGCCCCGCTGATGACCCGGCATGGGAGGCTGTGGTCGAACTTCTGGGGGGGCTCTCAGTGCAGATGGCTACTATGCCCGTTCCGAGGACTACGTGGACATTGTGCAGGGGCGGCGTGTGTGAGTACCTGCAGGGTGGGGGTGGGTGGGGGACACCTTCATCTGGCTTCTGCCTGGGCTTGTGGGGCTCCCTCCCTATTATTCCTGTTCTTGTTACCCTCAAATTCCTGTTGAACCTGAAGCAAGGAAGACTTCAGTTAGACACACAGAAGGACTTCCTGACAAATAGGCCCATGTGTCCAGGGCGGGGGAATCAAATCAGCACAATTGTGCCCCCCTAGCCTGTGACTTCCCTTCTCACACCCAGACTCCAGGCTATGACTCCCCACCACCACCCTGTGACCCCCTCCATCTTCCCCACCACCAGCCTCTGACCCCCACCCGCTTTCTGTCTCTCCCACAGTGGTGTCTGGAATGTGCCCTATATTTCAAACATCTACTTGATCAAGGGCAGTGCCCTGCGGGGTGAGCTGCAGTCCTCAGATCTCTTCCACCACAGCAAGCTGGACCCCGACATGGCCTTCTGTGCCAACATCCGGCAGCAGGTCAGCCAGGAGCGGGCAGCACAGGACGCCCTCTGGATGGGGCAGGCGGGAAGGTGGGCCTCCAGCTCTGACCCTCATGGTGGGCCGCCTTGTCACCGTAGGCCTGGGAGCTCCAGAGATTCTAGCAGGGCATCTCGGAAGCCACCAGGGCCTGCTGGAGGAATGGGGGCCGTCGGGCACGAGGGCTGGTCCTCAGGGGTCTGCAGGGACCATTTTAGCTGACCTGGTTTTTATACCATCTATTTTATTTACATTTTTGGAATAGCCCAAAGAAAACGGAACTTTCCACCTAAAGGTACTCCAAGTGATGTGCCCGAGAGACACCTCACCCTGTCTCTGCGCCCCACCCCATATATTTTTGTGACTTTTTTTTTTTTTTTAAACATGCAGCAAGATGAAGTTTTCCCCTGTGACCAACATTTCAGGACCAGAACACGCTCCTTTTCTTTTACGCATTTTTTCTTTCATTCTGTGTTCAGTCCTCTGGGAAGACTTCCCTGATCACATTCTTAGTGTCAGGCCTGGGCTGGGCCCTGGGGACATAGCGGTGACTGCACTTGGTCTCTGATATTGGGAACTTCAGTTCGGCGGGTGGAGGAGGCTGCACTGTTGCCCGTCTGGGAGCGTGCAGGGGAGGGGTGAGGGCAGGGGAGGGGTGGGGGAGCGCCTCTTCCACCGGGCCTGTCCTCCCCAGGATGTGTTCATGTTCCTGACCAACCGGCACACCCTTGGCCATCTGCTCTCCCTAGACAGCTACCGCACCACCCACCTGCACAACGACCTCTGGGAGGTGTTCAGCAACCCCGAGGTGAGGCCAGGGTGGGCACATAGGGGCTGGGAGCAAAGGGGCCCAGTGATCCTGCAGTCGGAGGGACTTCCCTCTCAGAGTCTTACAACAGCCAGGACCCCTGTAGGCCACCTGCCACCCTCCCTTCACCCCAGGAGGCTATAGGGCAGGATTTGGGTAGGGAGAGAAGGGTGTCCAGAGAGGCAACACCATCTATTGGAGGAGGGACCAGGACTCAAGAGGCCTGGGTTTGTGGCCTAGATCTGCCATCATCTGGGACTTAGTTGAGCCTTCCAGCTTTGGGGACCTTAGTTATCTTAGCTCCAAAATGGGTATACTGTCCCAGCCTGTCTTACCCATGAGGGTGTTGTGATGATCAGAAGGGGAGACAGTTGTAACTGTTTCTAGACGTTGGGAGCTCACAGCTGATGGGTGTAAGCACATGCCTGCACACAGACATATACACACAAGCACACACATGTACATACATGTGCAAACACCACCTCCTATGGGCACACCTGTGCACCCAGACAACACACACGCACCCAGTGGGTGCAGGTGAACACCTGCCTCTGTCAAGCACGTACACCTTCACTCCCACTTTGAGGGGTCTGCTCTGAGCATCCCTGGCAGTTGAGCCAATGGTGAGGACCCTAGCCTGCTTCCCACTTCCCACAGGACTGGAAGGAGAAGTACATCCA
|
pathogenic
| 3,082 |
Variant in gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1), located at chromosome 1 position 11970708: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1']
|
CCTGCCACCATGCCCGACTAATTTTTGTATATTTAGTAGAGATGGGTTTCACCATTTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCGCACCGGGCACCCCACCTCTCATTTTCTACGTCCTTTTTTTTTTTTTTTTTGGTGAAGTGGAGCCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCAGTGGTGCAGTGGTGCGATCTCGGCTCACTGAAACCTCTGCCTCCTGAGTTCAAGTGATTCTCTTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGTGCTGGCCACCATGCCTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCGTCACCCAGGTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCCGCCTGAGTAGCTAGGATTACAGGTACCCACCACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCGTGTTTGTGAGGCTGGTCTGAAACTCCTGACCTCCGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTCATTTTCTAAGTTGTTTAACAGAAATGTGTGTTCCCAAGTTTAAGGCACCGTTTTTAAAGGCACATGAGACCCTGGACCTGTGTGCCAACCTCTGACCTGGCAACTGGACTAACCTGAAGTTCTGGTTATCTTCCTAATCCACATGCTTTGGTTGCTGAGCTGATCTCCAGAAGCCAGGAACTGGACTAGCCCGTGCATTCTGGGGGCTGGCTGATGCTTGTGCTCCAGTGACAGGGCCAGACCTCGGACCCCAGCTGACTCTGGCCCTGGAACAAGTTTTCAGTGCTCTGTAACAAATGACTGTGGCTCAGAATAACACCCGTGTGTTATCTCCTGGTTTCTGTGGGTCAGGAATCTGGGCCCAGTTTAGCTGGGTCATTGAGGTGTCAGCTGGGGTTGGGGTCTCATCTGAGGCCCAGGATTCCATTCCAAACTCACTTGGTTGTTGCAGAATTCATTCCCCTGCAGCTGTAGAACTTAACTTGCTTCTTCAAGGCCAGCAAGAGACAGAATCTCTCTTCAGTATCCTCCTTTAGCCAGGCGCAGTGGTTCATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGGGTTTAAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACAAAGAATAAAATTAGTGGCTGGGTGCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGCGGTGGAGGTTGCAGTGAGCTGAAATGACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCACACACACACAAAAATAAAAATAATAAAAATAAAATTAGTTGGGCGTGATGGTGCGTGCCTGTAGTCCCAGCTACACGGGAGGGTGAGGTGGGAGGATCACTTAGGCCTGGAAGGTTGAGGCTGCAGTGAGCTGAAGTTGCGCCACTGCGCTCTTACCTGTGCAACAGAGGGATACCCTGTCTCAAAAAATAAGGTCTTTCTGCAGATGACTCACCTAGTAGGTCAGGCCCCCCCAGGATAATCTCCCTTTTGATTAACCCAAAGTCAACTGATTAGGAGCCTTAATTGTATCTGCAAAGCCTGTTCAGTTTTGTCATGTAATGTGGTCCGGTCACATTCCCGGGTGTAGGAGAGGGGAGTAGACAGAGCCTGGGGGCCATCCTAGAATTCTGCCTAAACATTCACCTCGGTCACCTCCAGGACAACCGCATCCAGGGTGGCTACGAGAACGTGCCGACTATTGACATCCACATGAACCAGATCGGCTTTGAGCGGGAGTGGCACAAATTCCTGCTGGAGTACATTGCGCCCATGACGGAGAAGCTCTACCCCGGCTACTACACCAGGGTGGGCAAGCCTGGGGCATAGCCAGGATGCGGGGACAGTTGGGTGGGGTGTCAGTGGAGTGGCTGGGACTGGTGGGGGTAGGGTGGGAGGTGGAGAAACTGGGAGGGGCCGAGGTGGAGTGAGGGTGTGGGGAGCGTGGGAGGGGCAAGGGTGGGGCATGAGGTAGAGGGACTGAGGGGTGGGGATGGGGTTGGGAAGAGCAGGGGTGGGGTGGGAAGTGGTAGAGAAGCTGGGAGGGGTGGAGAGGAGTAGGGAGCCTGGGAGGGGCAGGGGTGAGTGGGAGTGGAAAGCCTAGAGGGGCGGGGGGGCAGGGGTGAGGGAGTGGAGAGACTGGAAGGGGCAGGAGTTGGTGGGGAGGTCGAGGCCAGTGTGGGGCAGGGGGATGGGGTGGGAGGGGTAGGGTGGAGTGGGGGGCTTGGGTGGAAGGGCCAGGGGTGGGTGGGGGCTGGAGAGTCTGGCAAGGGGAGGGGCTGGGGAAGGGGTTGGGTTGGAGTACGGGTGGAGGAACATCCCAGCTTATGGGAGAGGCCTGGATATTTGGTCCCCAGGCAGGAGTGAGGTCTCACCGCACACACCCCCTCCATCTAGTAGCGTGTGGGAAGACAGGGTGCTGGGCTGGGACTCTAGGGCCGGCTAGTTGGCCTCTAGCCTGAGCTGGAGTCTCACTCAGCCTCATGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTAATCCGCCCACCTCTGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGACCTCAGCTCTTTTGAATCTTTCTTCCTTGTCATTAACCCTGCCTCAGTGGCTCCTATACCAGCCCACCAAAAAAGCACCCCTGCCCACCTTAGCTGGCCAGCGTGCCCACTCCCTCCCTAGCCACAAGCCTGTGCCCCACGCCTGGGCCCTGCTTCGTCCGAAGCAGCCTTCTTCCAATAGTGAGGAAAACCCTGAACTCCTGTTACTGACAGTTGTCATTCATCCCTTGAATGCTTACTGTGGTTCCCCGGAAACAATTACCTGGCTGGCCTCGGTTAATTCTCACAATTCTTTCCAGTGCTATCACTCATGTGTCTGTCCACTGCTACCTTGGCTTTCTCCAAGGTACTTTCTCCAAGACTCAGTTCCTTCCTTGGTCTCTGGTTTCTCCAGATACCTGCCCATGGCGTGCCTGGGTCCTGCCTCAGGGAATCCAGCCTGGATAGTTGCCAGAAAGGGTTGTGAGGATTGGATGCCCCCCTTTGTCTTTGTCTTTTCATTCATTCCTTCGTTCCTTTCTTCCCTTCCTTCCTTCCTTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTCTCTCTCTTTCTCTTTCTCTGTCTCTTTTTCTTTCTTTTCTTTCGCACTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTACAATCTCCGCCTCCCAGATTCAAGCGATTCTCCGGCCTCAGCCTCCCAAGTAGCTGCGATTACAGACGCCCACCACCATGTCTGGCTAATTTTTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTACCATGTCCGGCCTCCTTCCCTTTCATTTCTTCTCTTCCCTTTCATTTCTTCTCTTCCCTTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTTTCTTCCTTCCCCTCTGTTCTCTTCCTTCCCTCCCTCTCTCCCCTCTGTCCATACATTTTTGTTGAGAACCTTTTCTGTGCCAGGTAGTTGCAGGCACTCGAGCATAGAGCCCCATGTAGACCTGGC
|
CCTGCCACCATGCCCGACTAATTTTTGTATATTTAGTAGAGATGGGTTTCACCATTTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCGCACCGGGCACCCCACCTCTCATTTTCTACGTCCTTTTTTTTTTTTTTTTTGGTGAAGTGGAGCCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCAGTGGTGCAGTGGTGCGATCTCGGCTCACTGAAACCTCTGCCTCCTGAGTTCAAGTGATTCTCTTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGTGCTGGCCACCATGCCTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCGTCACCCAGGTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCCGCCTGAGTAGCTAGGATTACAGGTACCCACCACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCGTGTTTGTGAGGCTGGTCTGAAACTCCTGACCTCCGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTCATTTTCTAAGTTGTTTAACAGAAATGTGTGTTCCCAAGTTTAAGGCACCGTTTTTAAAGGCACATGAGACCCTGGACCTGTGTGCCAACCTCTGACCTGGCAACTGGACTAACCTGAAGTTCTGGTTATCTTCCTAATCCACATGCTTTGGTTGCTGAGCTGATCTCCAGAAGCCAGGAACTGGACTAGCCCGTGCATTCTGGGGGCTGGCTGATGCTTGTGCTCCAGTGACAGGGCCAGACCTCGGACCCCAGCTGACTCTGGCCCTGGAACAAGTTTTCAGTGCTCTGTAACAAATGACTGTGGCTCAGAATAACACCCGTGTGTTATCTCCTGGTTTCTGTGGGTCAGGAATCTGGGCCCAGTTTAGCTGGGTCATTGAGGTGTCAGCTGGGGTTGGGGTCTCATCTGAGGCCCAGGATTCCATTCCAAACTCACTTGGTTGTTGCAGAATTCATTCCCCTGCAGCTGTAGAACTTAACTTGCTTCTTCAAGGCCAGCAAGAGACAGAATCTCTCTTCAGTATCCTCCTTTAGCCAGGCGCAGTGGTTCATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGGGTTTAAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACAAAGAATAAAATTAGTGGCTGGGTGCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGCGGTGGAGGTTGCAGTGAGCTGAAATGACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCACACACACACAAAAATAAAAATAATAAAAATAAAATTAGTTGGGCGTGATGGTGCGTGCCTGTAGTCCCAGCTACACGGGAGGGTGAGGTGGGAGGATCACTTAGGCCTGGAAGGTTGAGGCTGCAGTGAGCTGAAGTTGCGCCACTGCGCTCTTACCTGTGCAACAGAGGGATACCCTGTCTCAAAAAATAAGGTCTTTCTGCAGATGACTCACCTAGTAGGTCAGGCCCCCCCAGGATAATCTCCCTTTTGATTAACCCAAAGTCAACTGATTAGGAGCCTTAATTGTATCTGCAAAGCCTGTTCAGTTTTGTCATGTAATGTGGTCCGGTCACATTCCCGGGTGTAGGAGAGGGGAGTAGACAGAGCCTGGGGGCCATCCTAGAATTCTGCCTAAACATTCACCTCGGTCACCTCCAGGACAACCGCATCCAGGGTGGCTACGAGAACGTGCCGACTTTGACATCCACATGAACCAGATCGGCTTTGAGCGGGAGTGGCACAAATTCCTGCTGGAGTACATTGCGCCCATGACGGAGAAGCTCTACCCCGGCTACTACACCAGGGTGGGCAAGCCTGGGGCATAGCCAGGATGCGGGGACAGTTGGGTGGGGTGTCAGTGGAGTGGCTGGGACTGGTGGGGGTAGGGTGGGAGGTGGAGAAACTGGGAGGGGCCGAGGTGGAGTGAGGGTGTGGGGAGCGTGGGAGGGGCAAGGGTGGGGCATGAGGTAGAGGGACTGAGGGGTGGGGATGGGGTTGGGAAGAGCAGGGGTGGGGTGGGAAGTGGTAGAGAAGCTGGGAGGGGTGGAGAGGAGTAGGGAGCCTGGGAGGGGCAGGGGTGAGTGGGAGTGGAAAGCCTAGAGGGGCGGGGGGGCAGGGGTGAGGGAGTGGAGAGACTGGAAGGGGCAGGAGTTGGTGGGGAGGTCGAGGCCAGTGTGGGGCAGGGGGATGGGGTGGGAGGGGTAGGGTGGAGTGGGGGGCTTGGGTGGAAGGGCCAGGGGTGGGTGGGGGCTGGAGAGTCTGGCAAGGGGAGGGGCTGGGGAAGGGGTTGGGTTGGAGTACGGGTGGAGGAACATCCCAGCTTATGGGAGAGGCCTGGATATTTGGTCCCCAGGCAGGAGTGAGGTCTCACCGCACACACCCCCTCCATCTAGTAGCGTGTGGGAAGACAGGGTGCTGGGCTGGGACTCTAGGGCCGGCTAGTTGGCCTCTAGCCTGAGCTGGAGTCTCACTCAGCCTCATGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTAATCCGCCCACCTCTGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGACCTCAGCTCTTTTGAATCTTTCTTCCTTGTCATTAACCCTGCCTCAGTGGCTCCTATACCAGCCCACCAAAAAAGCACCCCTGCCCACCTTAGCTGGCCAGCGTGCCCACTCCCTCCCTAGCCACAAGCCTGTGCCCCACGCCTGGGCCCTGCTTCGTCCGAAGCAGCCTTCTTCCAATAGTGAGGAAAACCCTGAACTCCTGTTACTGACAGTTGTCATTCATCCCTTGAATGCTTACTGTGGTTCCCCGGAAACAATTACCTGGCTGGCCTCGGTTAATTCTCACAATTCTTTCCAGTGCTATCACTCATGTGTCTGTCCACTGCTACCTTGGCTTTCTCCAAGGTACTTTCTCCAAGACTCAGTTCCTTCCTTGGTCTCTGGTTTCTCCAGATACCTGCCCATGGCGTGCCTGGGTCCTGCCTCAGGGAATCCAGCCTGGATAGTTGCCAGAAAGGGTTGTGAGGATTGGATGCCCCCCTTTGTCTTTGTCTTTTCATTCATTCCTTCGTTCCTTTCTTCCCTTCCTTCCTTCCTTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTCTCTCTCTTTCTCTTTCTCTGTCTCTTTTTCTTTCTTTTCTTTCGCACTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTACAATCTCCGCCTCCCAGATTCAAGCGATTCTCCGGCCTCAGCCTCCCAAGTAGCTGCGATTACAGACGCCCACCACCATGTCTGGCTAATTTTTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTACCATGTCCGGCCTCCTTCCCTTTCATTTCTTCTCTTCCCTTTCATTTCTTCTCTTCCCTTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTTTCTTCCTTCCCCTCTGTTCTCTTCCTTCCCTCCCTCTCTCCCCTCTGTCCATACATTTTTGTTGAGAACCTTTTCTGTGCCAGGTAGTTGCAGGCACTCGAGCATAGAGCCCCATGTAGACCTGGCN
|
pathogenic
| 3,135 |
Evaluate if the mutation on chromosome 1 at position 11972853 in PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
TACTACACCAGGGTGGGCAAGCCTGGGGCATAGCCAGGATGCGGGGACAGTTGGGTGGGGTGTCAGTGGAGTGGCTGGGACTGGTGGGGGTAGGGTGGGAGGTGGAGAAACTGGGAGGGGCCGAGGTGGAGTGAGGGTGTGGGGAGCGTGGGAGGGGCAAGGGTGGGGCATGAGGTAGAGGGACTGAGGGGTGGGGATGGGGTTGGGAAGAGCAGGGGTGGGGTGGGAAGTGGTAGAGAAGCTGGGAGGGGTGGAGAGGAGTAGGGAGCCTGGGAGGGGCAGGGGTGAGTGGGAGTGGAAAGCCTAGAGGGGCGGGGGGGCAGGGGTGAGGGAGTGGAGAGACTGGAAGGGGCAGGAGTTGGTGGGGAGGTCGAGGCCAGTGTGGGGCAGGGGGATGGGGTGGGAGGGGTAGGGTGGAGTGGGGGGCTTGGGTGGAAGGGCCAGGGGTGGGTGGGGGCTGGAGAGTCTGGCAAGGGGAGGGGCTGGGGAAGGGGTTGGGTTGGAGTACGGGTGGAGGAACATCCCAGCTTATGGGAGAGGCCTGGATATTTGGTCCCCAGGCAGGAGTGAGGTCTCACCGCACACACCCCCTCCATCTAGTAGCGTGTGGGAAGACAGGGTGCTGGGCTGGGACTCTAGGGCCGGCTAGTTGGCCTCTAGCCTGAGCTGGAGTCTCACTCAGCCTCATGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTAATCCGCCCACCTCTGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGACCTCAGCTCTTTTGAATCTTTCTTCCTTGTCATTAACCCTGCCTCAGTGGCTCCTATACCAGCCCACCAAAAAAGCACCCCTGCCCACCTTAGCTGGCCAGCGTGCCCACTCCCTCCCTAGCCACAAGCCTGTGCCCCACGCCTGGGCCCTGCTTCGTCCGAAGCAGCCTTCTTCCAATAGTGAGGAAAACCCTGAACTCCTGTTACTGACAGTTGTCATTCATCCCTTGAATGCTTACTGTGGTTCCCCGGAAACAATTACCTGGCTGGCCTCGGTTAATTCTCACAATTCTTTCCAGTGCTATCACTCATGTGTCTGTCCACTGCTACCTTGGCTTTCTCCAAGGTACTTTCTCCAAGACTCAGTTCCTTCCTTGGTCTCTGGTTTCTCCAGATACCTGCCCATGGCGTGCCTGGGTCCTGCCTCAGGGAATCCAGCCTGGATAGTTGCCAGAAAGGGTTGTGAGGATTGGATGCCCCCCTTTGTCTTTGTCTTTTCATTCATTCCTTCGTTCCTTTCTTCCCTTCCTTCCTTCCTTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTCTCTCTCTTTCTCTTTCTCTGTCTCTTTTTCTTTCTTTTCTTTCGCACTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTACAATCTCCGCCTCCCAGATTCAAGCGATTCTCCGGCCTCAGCCTCCCAAGTAGCTGCGATTACAGACGCCCACCACCATGTCTGGCTAATTTTTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTACCATGTCCGGCCTCCTTCCCTTTCATTTCTTCTCTTCCCTTTCATTTCTTCTCTTCCCTTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTTTCTTCCTTCCCCTCTGTTCTCTTCCTTCCCTCCCTCTCTCCCCTCTGTCCATACATTTTTGTTGAGAACCTTTTCTGTGCCAGGTAGTTGCAGGCACTCGAGCATAGAGCCCCATGTAGACCTGGCCCCTGTAAGCTGACCTGCAGCAGGCCAGACCAGGCCCCATGTGTGCACCCTCCTCTCCTGGCCTTTGTGTCCTCCTTAACTAACACGGGCTCTCTTGTCCCCCTGCCTTGGTACAGGCCCAGTTTGACCTGGCCTTTGTCGTCCGCTACAAGCCTGATGAGCAGCCCTCACTGATGCCACACCATGATGCCTCCACCTTCACCATCAACATCGCCCTGAACCGAGTCGGGGTGGATTACGAGGTGAGCAGGAGCCAGCCGGGGTCAAGGGGCCGGCAATGGGGATGAGGAGGGCTAGCTGAGGAGAGGCTTCAGGGTGGTTGAGGCAGAGGGGCCCCAGGTAACCAGTGCCAGAGAACCAGAAAAAAAAGGATGTGGGTCTGTGGGAGGGCTTCCTGGAAGGGTTCACAGTCTAGCAGGAGGAGGGGCCAGGCTCTTAAGCTACTATTTTAAGAGATTTTTGGGCTCGGCATGGTGGCTGATGCCTGCAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGGGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATTTCCACTAAAAATAGAAAAATTAGCTGGGCGTGGTAGCACACACCTGTAATCTTAGCTACCCAGAAGGCTGAGGCATGAGAATCTCTTGAACCCAAGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCCAAAAAAAACAAAAAGAGGTTTTTTGAACTTAGCCCTGGGCTGGGTGCTGTGGAGAACACTCATAAAAACAGCTATAATCCTTTTTTTTTTCTTTTTCGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGATCACAGTTCACTGCAGCCTCAACCTCCTGGGCCCAAGCAATCCTCCCACCTCAGCCCCCCCAAGTAGTTGGGACCACAGGCGTGTGCCACCATGGCCAGCTAATTTTTTTTCTTGCTTTTAGAGATGGGGTTTCACTATGTTGCCCAGGCTGGAGCTATAATTTTTTGAGAGCTTACAACAAACATATCAGGCATCCCTAATCCAAGGATTCTCAACCAGGAGCAACTGTGGCCTGCAAGGGACATTGGCAGTACCTGGAGACATAATTGGTTTTTACAACTATGAGGGGCTACTGGCATCTAGTGGGTAGAAGTCAGAGATGCCCGGGACAGCCTTCCACAGCAAAGTGTCTATAGTGGTGAGGTTGGGAAGCTTGATCCTCAGCTCTCAATTGTAACATCTCATTTAATTCTCACTATCCTGTTCTGTTTAACCCTCATTTTACAGAAGGGGAAACTGAAGCTCAGGTTGGTCACAGTTAGTAAAGAGTGGAGGTGATGTCTGCCCAGGGCTGCCTGACTCCAAGGACAGAGCTCTTGATCACTTACTCTTTGGGTTTTTTTTTTTTTGAGACAGTCTCATTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCCTCCTGGGTTCAAGTGATTCTGTCTCAGCTTCCCGAATAGCTGGGATTACAGGCGTGCGCTGCTACACCCAGCTGGTTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCATGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACTCCTGGCCACTACTCTTCATTTAGTGTCTTCCTTAGCAGCGCTTGTGGCTGTCACTCCAGAAGGCATCCCCAGGCAGGCAGTGCTGAGGGCCACTTGGCCATGACAGGAGATCATGACGGGAGAACAGACGGGCAGGGGGGCGGTGGGGAAAGGCCACTGATGCTTTCTGTCTCCCAGGGCGGGGGCTGTCGGTTCCTGCGCTACAACTGTTCCATCCGAGCCCCAAGGAAGGGCTGGACCCTCATGCACCCTGGACGACTCACGCATTACCATGAGGGGCTCCCCACCACCAGGGGCACCCGCTACATCGCAGTCTCCTTCGTCGATCCCTAATTGGCCAGGCCTGACCCTCTTGGACCTTTCTTCTTTGCCGACAACCACTGCCCAGCAGCCTCTGGGACCTCGGGGTCCCAGGGAACCCAGTC
|
TACTACACCAGGGTGGGCAAGCCTGGGGCATAGCCAGGATGCGGGGACAGTTGGGTGGGGTGTCAGTGGAGTGGCTGGGACTGGTGGGGGTAGGGTGGGAGGTGGAGAAACTGGGAGGGGCCGAGGTGGAGTGAGGGTGTGGGGAGCGTGGGAGGGGCAAGGGTGGGGCATGAGGTAGAGGGACTGAGGGGTGGGGATGGGGTTGGGAAGAGCAGGGGTGGGGTGGGAAGTGGTAGAGAAGCTGGGAGGGGTGGAGAGGAGTAGGGAGCCTGGGAGGGGCAGGGGTGAGTGGGAGTGGAAAGCCTAGAGGGGCGGGGGGGCAGGGGTGAGGGAGTGGAGAGACTGGAAGGGGCAGGAGTTGGTGGGGAGGTCGAGGCCAGTGTGGGGCAGGGGGATGGGGTGGGAGGGGTAGGGTGGAGTGGGGGGCTTGGGTGGAAGGGCCAGGGGTGGGTGGGGGCTGGAGAGTCTGGCAAGGGGAGGGGCTGGGGAAGGGGTTGGGTTGGAGTACGGGTGGAGGAACATCCCAGCTTATGGGAGAGGCCTGGATATTTGGTCCCCAGGCAGGAGTGAGGTCTCACCGCACACACCCCCTCCATCTAGTAGCGTGTGGGAAGACAGGGTGCTGGGCTGGGACTCTAGGGCCGGCTAGTTGGCCTCTAGCCTGAGCTGGAGTCTCACTCAGCCTCATGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTAATCCGCCCACCTCTGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGACCTCAGCTCTTTTGAATCTTTCTTCCTTGTCATTAACCCTGCCTCAGTGGCTCCTATACCAGCCCACCAAAAAAGCACCCCTGCCCACCTTAGCTGGCCAGCGTGCCCACTCCCTCCCTAGCCACAAGCCTGTGCCCCACGCCTGGGCCCTGCTTCGTCCGAAGCAGCCTTCTTCCAATAGTGAGGAAAACCCTGAACTCCTGTTACTGACAGTTGTCATTCATCCCTTGAATGCTTACTGTGGTTCCCCGGAAACAATTACCTGGCTGGCCTCGGTTAATTCTCACAATTCTTTCCAGTGCTATCACTCATGTGTCTGTCCACTGCTACCTTGGCTTTCTCCAAGGTACTTTCTCCAAGACTCAGTTCCTTCCTTGGTCTCTGGTTTCTCCAGATACCTGCCCATGGCGTGCCTGGGTCCTGCCTCAGGGAATCCAGCCTGGATAGTTGCCAGAAAGGGTTGTGAGGATTGGATGCCCCCCTTTGTCTTTGTCTTTTCATTCATTCCTTCGTTCCTTTCTTCCCTTCCTTCCTTCCTTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTCTCTCTCTTTCTCTTTCTCTGTCTCTTTTTCTTTCTTTTCTTTCGCACTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTACAATCTCCGCCTCCCAGATTCAAGCGATTCTCCGGCCTCAGCCTCCCAAGTAGCTGCGATTACAGACGCCCACCACCATGTCTGGCTAATTTTTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTACCATGTCCGGCCTCCTTCCCTTTCATTTCTTCTCTTCCCTTTCATTTCTTCTCTTCCCTTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTTTCTTCCTTCCCCTCTGTTCTCTTCCTTCCCTCCCTCTCTCCCCTCTGTCCATACATTTTTGTTGAGAACCTTTTCTGTGCCAGGTAGTTGCAGGCACTCGAGCATAGAGCCCCATGTAGACCTGGCCCCTGTAAGCTGACCTGCAGCAGGCCAGACCAGGCCCCATGTGTGCACCCTCCTCTCCTGGCCTTTGTGTCCTCCTTAACTAACACGGGCTCTCTTGTCCCCCCTGCCTTGGTACAGGCCCAGTTTGACCTGGCCTTTGTCGTCCGCTACAAGCCTGATGAGCAGCCCTCACTGATGCCACACCATGATGCCTCCACCTTCACCATCAACATCGCCCTGAACCGAGTCGGGGTGGATTACGAGGTGAGCAGGAGCCAGCCGGGGTCAAGGGGCCGGCAATGGGGATGAGGAGGGCTAGCTGAGGAGAGGCTTCAGGGTGGTTGAGGCAGAGGGGCCCCAGGTAACCAGTGCCAGAGAACCAGAAAAAAAAGGATGTGGGTCTGTGGGAGGGCTTCCTGGAAGGGTTCACAGTCTAGCAGGAGGAGGGGCCAGGCTCTTAAGCTACTATTTTAAGAGATTTTTGGGCTCGGCATGGTGGCTGATGCCTGCAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGGGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATTTCCACTAAAAATAGAAAAATTAGCTGGGCGTGGTAGCACACACCTGTAATCTTAGCTACCCAGAAGGCTGAGGCATGAGAATCTCTTGAACCCAAGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCCAAAAAAAACAAAAAGAGGTTTTTTGAACTTAGCCCTGGGCTGGGTGCTGTGGAGAACACTCATAAAAACAGCTATAATCCTTTTTTTTTTCTTTTTCGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGATCACAGTTCACTGCAGCCTCAACCTCCTGGGCCCAAGCAATCCTCCCACCTCAGCCCCCCCAAGTAGTTGGGACCACAGGCGTGTGCCACCATGGCCAGCTAATTTTTTTTCTTGCTTTTAGAGATGGGGTTTCACTATGTTGCCCAGGCTGGAGCTATAATTTTTTGAGAGCTTACAACAAACATATCAGGCATCCCTAATCCAAGGATTCTCAACCAGGAGCAACTGTGGCCTGCAAGGGACATTGGCAGTACCTGGAGACATAATTGGTTTTTACAACTATGAGGGGCTACTGGCATCTAGTGGGTAGAAGTCAGAGATGCCCGGGACAGCCTTCCACAGCAAAGTGTCTATAGTGGTGAGGTTGGGAAGCTTGATCCTCAGCTCTCAATTGTAACATCTCATTTAATTCTCACTATCCTGTTCTGTTTAACCCTCATTTTACAGAAGGGGAAACTGAAGCTCAGGTTGGTCACAGTTAGTAAAGAGTGGAGGTGATGTCTGCCCAGGGCTGCCTGACTCCAAGGACAGAGCTCTTGATCACTTACTCTTTGGGTTTTTTTTTTTTTGAGACAGTCTCATTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCCTCCTGGGTTCAAGTGATTCTGTCTCAGCTTCCCGAATAGCTGGGATTACAGGCGTGCGCTGCTACACCCAGCTGGTTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCATGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACTCCTGGCCACTACTCTTCATTTAGTGTCTTCCTTAGCAGCGCTTGTGGCTGTCACTCCAGAAGGCATCCCCAGGCAGGCAGTGCTGAGGGCCACTTGGCCATGACAGGAGATCATGACGGGAGAACAGACGGGCAGGGGGGCGGTGGGGAAAGGCCACTGATGCTTTCTGTCTCCCAGGGCGGGGGCTGTCGGTTCCTGCGCTACAACTGTTCCATCCGAGCCCCAAGGAAGGGCTGGACCCTCATGCACCCTGGACGACTCACGCATTACCATGAGGGGCTCCCCACCACCAGGGGCACCCGCTACATCGCAGTCTCCTTCGTCGATCCCTAATTGGCCAGGCCTGACCCTCTTGGACCTTTCTTCTTTGCCGACAACCACTGCCCAGCAGCCTCTGGGACCTCGGGGTCCCAGGGAACCCAGT
|
benign
| 3,146 |
Is the genetic mutation found on chromosome 1 at position 11996247, within the gene MFN2 (mitofusin 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2']
|
TATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGGTTGCAGTGAGTCAAGATCGCGCCACTGCACTCCAGCCTAGGTGACGGAGTGAGACTCCGTCTCAAAAAAAAAAAATCTAATACAAGAAAAAAGGCATCTAGACAGATTGTATGCTAGGCACACAGTGGTAGCCTGGGGAATAGGCACTGTGCCTAGAGTCTTGACCCTGATGAACTGTAACCTCAGGTGTGGTCCTCTACTCCTCTGAACTATCATTTCTTCATCCTCACCTGGGAGGTATGACCCCCTACTTAGGTGAGCTAGTGGGCTTCCTGTCTCACTGGGTGCAGGTAAGGTCATTGTAGTTCTGCTCTAGTGATATGGCTGAGAAACTTCAACTCAGAATGAGAAACACTGTGTTTAGCACAGGTTGAAAGCTCTGAGACTCAGAGCAGATGAGTCTGCTGAGCAGAGCTATTCTCAAGAAGCAGAAATGGTGGGGTGCAGTGGTTCACACCTGTAATCTCAGCACTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATGGCAAGACCCCATCTCTACCAAAAATTTAAAAATTAGCTGGGCGTGGTCGCAGCTATAGTCTATATATAGGTGGTACCTATAGTCTAAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTGAGCCCTGATGGTCGAGGCTGCAGTGAGCTATATTCATGCCACACGCTACTGCACTCCAGCTTGGGCGAGAAAGCAAAATCCCATATCAAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAATAACAATAAAAAAAAAAAGAATGAGAAAGTAACCTTCCCTTTAGCCTGGCAGTTGTCAGCTGGGACTCACAAGGTGGAGCTTCATGTGTAAGGAGGAGCGTGATGGGAGAAAAGCAGCGAAACATGCCCTGTGTAGGAAACACTGGGGTCATTTAGACTGAGGAAGACACTCTGGGGGTTAGTCGGTGTTTCAGGTAGGCCTGAATTAAACTTTGGAGACAGACAGACAGTCTCTATAAGTGTTGCTGAGGGTGGCTGTGTGATTCAAGGGGCAGACAGCACGCAGTGAGCCTCTTGTAGATTGATCTGAAATGATGAACCAGGGGCATGTCAGAGGTTTGGGCCTGGGGGTGTTTATTCATTTTAATAAACAGTGCCTACTCTTTGTCTCTCAGCACTGTCTGGGCACTGGCAACATTGCACTGAATAGGGCTTTGGCCTTCCAGGCTGGTATCTGCGTTGTGAAAGTAATTCAGGTCAGATACTGGTGGCTTTGCTGACAGCTGTTACTTCCTTCTAGGACGAGCAATGGGAAGAGCACCGTGATCAATGCCATGCTCTGGGACAAAGTTCTGCCCTCTGGGATTGGCCACACCACCAATTGCTTCCTGCGGGTAGAGGGCACAGATGGCCATGAGGCCTTTCTCCTTACCGAGGGCTCAGAGGAAAAGAGGAGTGCCAAGGTGAGGGTGCCAGGCTGGCTGTCAGCCCTGTGCCTGCTGGGGGAGCAAGTCCTCCGTTGTGACACGGCTGACCTCACCTCTAGGGAGGGGGCAGCACCACCCTGTGGAGGTGAATGGGAGACCCTATTTTAGATGAACTTTTTGAAGGATGTAAGAGCTTTTGGGGGCTGGCGGAGGTGGTTTTCAGAAACGTGGATCACCAAGAATGAGGACCCTGCTGTTCCTCATACAGCTCTGAGTGGCCACTGACCTCTCTTCACTAATTAAGGAAGACAGTATGTGCTGTGTTCTTCCTTGGGATATTGCCAGAGAGGAATTCCTGCATTTGCTGTGTGTCTCTGACCTATCAGTCAGGGACCGACACTCTGAGTTTTCTGAGAGGCAGCTGCATTCTTGTTTGGGGCCAGATGCTCAATTTGCTTCATAAAGAATCAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGTGTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAGGTAAGAGGGAGGTGCCCTCCTAGGAGGTCCAAACTGGAAGGCACCAGGTTTCCATTTCTGGATAATCTAGGCCAGGGTCCCTGGGCCCCATCCTTGCTCTGCTTAAGTATTACTACCTTTCAGATGGGCTCAACCAAATCCTCTGGCCTCTTGGCTTTCCTCTGGAGTCTGGTTACTATACCTATTTATCAGTACCCTGCAGATGTCCCAGGGATGGTCTGTAAAAGATAGGAGGGATGCTCAAAAGTTGGTGGGGGAGGTTCTCAATCTCAGCCCAGTGCCAGCATGTGTACTGGGGGTGGGGAGTTGTGGCGGAGTCAGAGGTGTATTTTATTTCCCTTGAAGAAACACTTTGCCTTGGCTTGGTGGACTGGTTATAACTATACCAACATGTACAGTATTGTAGTGTTTATCTGGACTCACATCAAGTCACAACTTCACCTTAATTGTATATCATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCATGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACTGTGCCCCGCCTGGTATATCATCTTTAAAGTAGAATTACAAGTAATTCTGTTTTTATAAAAGCAATAGATATATGTGTTTAAAAACACTCATTTCTGCCAGGCACGGTGGCTCATGCCTGTAAT
|
TATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGGTTGCAGTGAGTCAAGATCGCGCCACTGCACTCCAGCCTAGGTGACGGAGTGAGACTCCGTCTCAAAAAAAAAAAATCTAATACAAGAAAAAAGGCATCTAGACAGATTGTATGCTAGGCACACAGTGGTAGCCTGGGGAATAGGCACTGTGCCTAGAGTCTTGACCCTGATGAACTGTAACCTCAGGTGTGGTCCTCTACTCCTCTGAACTATCATTTCTTCATCCTCACCTGGGAGGTATGACCCCCTACTTAGGTGAGCTAGTGGGCTTCCTGTCTCACTGGGTGCAGGTAAGGTCATTGTAGTTCTGCTCTAGTGATATGGCTGAGAAACTTCAACTCAGAATGAGAAACACTGTGTTTAGCACAGGTTGAAAGCTCTGAGACTCAGAGCAGATGAGTCTGCTGAGCAGAGCTATTCTCAAGAAGCAGAAATGGTGGGGTGCAGTGGTTCACACCTGTAATCTCAGCACTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATGGCAAGACCCCATCTCTACCAAAAATTTAAAAATTAGCTGGGCGTGGTCGCAGCTATAGTCTATATATAGGTGGTACCTATAGTCTAAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTGAGCCCTGATGGTCGAGGCTGCAGTGAGCTATATTCATGCCACACGCTACTGCACTCCAGCTTGGGCGAGAAAGCAAAATCCCATATCAAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAATAACAATAAAAAAAAAAAGAATGAGAAAGTAACCTTCCCTTTAGCCTGGCAGTTGTCAGCTGGGACTCACAAGGTGGAGCTTCATGTGTAAGGAGGAGCGTGATGGGAGAAAAGCAGCGAAACATGCCCTGTGTAGGAAACACTGGGGTCATTTAGACTGAGGAAGACACTCTGGGGGTTAGTCGGTGTTTCAGGTAGGCCTGAATTAAACTTTGGAGACAGACAGACAGTCTCTATAAGTGTTGCTGAGGGTGGCTGTGTGATTCAAGGGGCAGACAGCACGCAGTGAGCCTCTTGTAGATTGATCTGAAATGATGAACCAGGGGCATGTCAGAGGTTTGGGCCTGGGGGTGTTTATTCATTTTAATAAACAGTGCCTACTCTTTGTCTCTCAGCACTGTCTGGGCACTGGCAACATTGCACTGAATAGGGCTTTGGCCTTCCAGGCTGGTATCTGCGTTGTGAAAGTAATTCAGGTCAGATACTGGTGGCTTTGCTGACAGCTGTTACTTCCTTCTAGGACGAGCAATGGGAAGAGCACCGTGATCAATGCCATGCTCTGGGACAAAGTTCTGCCCTCTGGGATTGGCCACACCACCAATTGCTTCCTGCGGGGTAGAGGGCACAGATGGCCATGAGGCCTTTCTCCTTACCGAGGGCTCAGAGGAAAAGAGGAGTGCCAAGGTGAGGGTGCCAGGCTGGCTGTCAGCCCTGTGCCTGCTGGGGGAGCAAGTCCTCCGTTGTGACACGGCTGACCTCACCTCTAGGGAGGGGGCAGCACCACCCTGTGGAGGTGAATGGGAGACCCTATTTTAGATGAACTTTTTGAAGGATGTAAGAGCTTTTGGGGGCTGGCGGAGGTGGTTTTCAGAAACGTGGATCACCAAGAATGAGGACCCTGCTGTTCCTCATACAGCTCTGAGTGGCCACTGACCTCTCTTCACTAATTAAGGAAGACAGTATGTGCTGTGTTCTTCCTTGGGATATTGCCAGAGAGGAATTCCTGCATTTGCTGTGTGTCTCTGACCTATCAGTCAGGGACCGACACTCTGAGTTTTCTGAGAGGCAGCTGCATTCTTGTTTGGGGCCAGATGCTCAATTTGCTTCATAAAGAATCAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGTGTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAGGTAAGAGGGAGGTGCCCTCCTAGGAGGTCCAAACTGGAAGGCACCAGGTTTCCATTTCTGGATAATCTAGGCCAGGGTCCCTGGGCCCCATCCTTGCTCTGCTTAAGTATTACTACCTTTCAGATGGGCTCAACCAAATCCTCTGGCCTCTTGGCTTTCCTCTGGAGTCTGGTTACTATACCTATTTATCAGTACCCTGCAGATGTCCCAGGGATGGTCTGTAAAAGATAGGAGGGATGCTCAAAAGTTGGTGGGGGAGGTTCTCAATCTCAGCCCAGTGCCAGCATGTGTACTGGGGGTGGGGAGTTGTGGCGGAGTCAGAGGTGTATTTTATTTCCCTTGAAGAAACACTTTGCCTTGGCTTGGTGGACTGGTTATAACTATACCAACATGTACAGTATTGTAGTGTTTATCTGGACTCACATCAAGTCACAACTTCACCTTAATTGTATATCATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCATGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACTGTGCCCCGCCTGGTATATCATCTTTAAAGTAGAATTACAAGTAATTCTGTTTTTATAAAAGCAATAGATATATGTGTTTAAAAACACTCATTTCTGCCAGGCACGGTGGCTCATGCCTGTAA
|
pathogenic
| 3,210 |
Considering the genetic mutation at chromosome 1, position 11998841, impacting MFN2 (mitofusin 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Inborn_genetic_diseases']
|
TTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGTGTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAGGTAAGAGGGAGGTGCCCTCCTAGGAGGTCCAAACTGGAAGGCACCAGGTTTCCATTTCTGGATAATCTAGGCCAGGGTCCCTGGGCCCCATCCTTGCTCTGCTTAAGTATTACTACCTTTCAGATGGGCTCAACCAAATCCTCTGGCCTCTTGGCTTTCCTCTGGAGTCTGGTTACTATACCTATTTATCAGTACCCTGCAGATGTCCCAGGGATGGTCTGTAAAAGATAGGAGGGATGCTCAAAAGTTGGTGGGGGAGGTTCTCAATCTCAGCCCAGTGCCAGCATGTGTACTGGGGGTGGGGAGTTGTGGCGGAGTCAGAGGTGTATTTTATTTCCCTTGAAGAAACACTTTGCCTTGGCTTGGTGGACTGGTTATAACTATACCAACATGTACAGTATTGTAGTGTTTATCTGGACTCACATCAAGTCACAACTTCACCTTAATTGTATATCATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCATGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACTGTGCCCCGCCTGGTATATCATCTTTAAAGTAGAATTACAAGTAATTCTGTTTTTATAAAAGCAATAGATATATGTGTTTAAAAACACTCATTTCTGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAAGCTGAGGCGGGCAGATCAGGAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCCGGGCGACAGAGCAAGACTCTATATCCAAAAACAAAACAAAACAAAACAAAACACTCATTTCCAGGCAATCTGGAAGGATAGGAAATGGGAAGTAAAATCCGTTAATGAGGGCCAGGCCTGATTTCTCTCCCGTCCCTGGCTTTCTCCTCCATGACCTGCCTGCCTCACAAGTCCCAGGTCTGTTCTCAGCAGGAAGAATAGGGCTCCTGCTCTGCCTGATGATTTGGTTTACCCCTGTCACCTTTAGCCCTGGTATTGATGTCACCACAGAGCTGGACAGCTGGATTGACAAGTTTTGTCTGGATGCTGATGTGTTTGTGCTGGTGGCCAACTCAGAGTCCACCCTGATGCAGACGGTAACTCCTCCTCTGCCTTCTCCCAAGCTCCCAGCACCCCCTGGGCAGGCAGCTGATGGGGCCTTGGCTGTCAAGCTCCTGCTCCACCGAGGTCTTACCCTTTATCTAGGAAAAGCACTTCTTCCACAAGGTGAGTGAGCGTCTCTCCCGGCCAAACATCTTCATCCTGAACAACCGCTGGGATGCATCTGCCTCAGAGCCCGAGTACATGGAGGAGGTTCGTGCTTCTGTTTGGCAGTTTGGGGAATGCAACCCCGAGGGAGCACTGCCTGCCACTGGGGCCACTTCCTGCACCCCTGGATCTAGTGACTTCCCTGAATTAATTTTATTGCCAAAGAATTCTCCAAATACTCTTCTGTGGTATCTTCTGGTGGTCTTTCCCCTCTCCCATCCACTTTGCTGGATGCACCCCCTCTTCAAGCCACTCTCCCCTAGGCCTAAAAAGGATCCCTGCTGCATTAGTGCATCTTCAGTGCCGGTGCTCAGTTTGGTTTCTGAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATAT
|
TTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGTGTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAGGTAAGAGGGAGGTGCCCTCCTAGGAGGTCCAAACTGGAAGGCACCAGGTTTCCATTTCTGGATAATCTAGGCCAGGGTCCCTGGGCCCCATCCTTGCTCTGCTTAAGTATTACTACCTTTCAGATGGGCTCAACCAAATCCTCTGGCCTCTTGGCTTTCCTCTGGAGTCTGGTTACTATACCTATTTATCAGTACCCTGCAGATGTCCCAGGGATGGTCTGTAAAAGATAGGAGGGATGCTCAAAAGTTGGTGGGGGAGGTTCTCAATCTCAGCCCAGTGCCAGCATGTGTACTGGGGGTGGGGAGTTGTGGCGGAGTCAGAGGTGTATTTTATTTCCCTTGAAGAAACACTTTGCCTTGGCTTGGTGGACTGGTTATAACTATACCAACATGTACAGTATTGTAGTGTTTATCTGGACTCACATCAAGTCACAACTTCACCTTAATTGTATATCATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCATGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACTGTGCCCCGCCTGGTATATCATCTTTAAAGTAGAATTACAAGTAATTCTGTTTTTATAAAAGCAATAGATATATGTGTTTAAAAACACTCATTTCTGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAAGCTGAGGCGGGCAGATCAGGAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCCGGGCGACAGAGCAAGACTCTATATCCAAAAACAAAACAAAACAAAACAAAACACTCATTTCCAGGCAATCTGGAAGGATAGGAAATGGGAAGTAAAATCCGTTAATGAGGGCCAGGCCTGATTTCTCTCCCGTCCCTGGCTTTCTCCTCCATGACCTGCCTGCCTCACAAGTCCCAGGTCTGTTCTCAGCAGGAAGAATAGGGCTCCTGCTCTGCCTGATGATTTGGTTTACCCCTGTCACCTTTAGCCCTGGTATTGATGTCACCACAGAGCTGGACAGCTGGATTGACAAGTTTTGTCTGGATGCTGATGTGTTTGTGCCAACTCAGAGTCCACCCTGATGCAGACGGTAACTCCTCCTCTGCCTTCTCCCAAGCTCCCAGCACCCCCTGGGCAGGCAGCTGATGGGGCCTTGGCTGTCAAGCTCCTGCTCCACCGAGGTCTTACCCTTTATCTAGGAAAAGCACTTCTTCCACAAGGTGAGTGAGCGTCTCTCCCGGCCAAACATCTTCATCCTGAACAACCGCTGGGATGCATCTGCCTCAGAGCCCGAGTACATGGAGGAGGTTCGTGCTTCTGTTTGGCAGTTTGGGGAATGCAACCCCGAGGGAGCACTGCCTGCCACTGGGGCCACTTCCTGCACCCCTGGATCTAGTGACTTCCCTGAATTAATTTTATTGCCAAAGAATTCTCCAAATACTCTTCTGTGGTATCTTCTGGTGGTCTTTCCCCTCTCCCATCCACTTTGCTGGATGCACCCCCTCTTCAAGCCACTCTCCCCTAGGCCTAAAAAGGATCCCTGCTGCATTAGTGCATCTTCAGTGCCGGTGCTCAGTTTGGTTTCTGAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATNNNNNNN
|
pathogenic
| 3,234 |
Mutation at chromosome 1, position 12004934, within MFN2 (mitofusin 2): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
GAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCAGGTGAGAAATGAGGAGGAGGCATTCTGGGAAGATTTGGACTCCGAGTAGAGTCCAGAAGAAAGCAGACCTCCTCCTCTTAGGGACTTCTCAGCCTTTCAGAAGAAAGTTGTGGCCCTGTTTCAAGAATACAGAGCTGCCGTTTGGGTTCCATTGTCGGGTTGTGTGATGCTGGGCATGTTCCCTTTCCTCTGGACCTCCACAGATCATGTGGGCGTTTGATCAGCCAGTTTCCCAGACCCTCTCACTTCAGAGGCTTTAATTCCATAGAGGAGCTGAGGAGGCTGCTGGTTTGAGAGGAAGGATGTGCCATCTGCTAGGATCTCTCCTGGTGCTGCAGGAGTGAACTTTGGTCTTCCTTGATACTTAACAGTGTGCTTCCTTTTGCTGTAGGTGTCGACTGCAATGGCCGAGGAGATCAGGCGCCTCTCTGTACTGGTGGACGATTACCAGATGGACTTCCACCCTTCTCCAGTAGTCCTCAAGGTTTATAAGAATGTGAGTCATGGAGCAACAGGTCCTCTTGGCAGGAGGCCCCCAAAAGTGATTCAACCCCTGTTGGTCTGGGTCAGGGCCCCCCAGCAGTGACAGTAGAAGCCACAGAGACAAGGCCCAGGCTTCCGTCAGCCTTCTGGGGTCACCTGGTGGATGTGGCCTGAAGGGAATTTTGATGGACATGCTTCTCTTAACTTCCCTCTTCTGGTGGCAGGAGCTGCACCGCCACATAGAGGAAGGACTGGGTCGAAACATGTCTGACCGCTGCTCCACGGCCATCACCAACTCCCTGCAGACCATGCAGCAGGACATGATAGGTTAGTGCCCATGGGGAACTGGGCAGCTGTGGCCCTGGGCTGCCCAAAGATCAGATGCGGAGGCCAAGCTAAAGAAATCAGGACTTTCCTTATCTGTCACTTTTCATGATGATTCAACTCGATACCTTCAGGTTCTGGGTACATGTTCTGAACTCATTCTTGTTTGCTTTTTGAGACAGAGTCGCACTCCGTAACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCACCGAGGTTCAAGCGATTCTTCTGCTCCAGCGTCCCGAGTAGCTGCGACTACAGGCGTGACCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCACGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAAGTGATCTATCTGCCTTGGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACCGGCCCTGGCCTTGTGAACTCATTCTGTACACAGGGTTGGGGAGCCCATCTTGTTCTACTACATGGGTCTACCCTAGGCTGAGAATTGGGCCTGCTCCTTTAAGTCCACGTGAGGCATAAGTGTTAGCAGTATGGCATCTGAGTCCACACTTGCCTGGGAGAGCTGGCCTCAAGTGAGGCATGCTCAGTCTCACGGGCCAACTTGACTGGGGTGTGGTTCCCAGGCAAAGCTGTTCAGCATCCCTGGCAGTAGCTGGTAGAGCCCTGTCTCCAAGGCTTGGTGCCGCTGTGGTGCAGGGCTGAGCTGATAAGCTTTTCCTCCATTTCTCTTCCTGACAGATGGCTTGAAACCCCTCCTTCCTGTGTCTGTGCGGAGTCAGATAGACATGCTGGTCCCACGCCAGTGCTTCTCCCTCAACTATGACCTAAACTGTGACAAGCTGTGTGCTGACTTCCAGGAAGACATTGAGTTCCATTTCTCTCTCGGATGGACCATGCTGGTGAATAGGTTCCTGGGCCCCAAGAACAGCCGTCGGGCCTTGATGGGCTACAATGACCAGGCAAGCAAAGTTCCTCACCTCAAGGGCATTGTGGGGGGTCAGTCTGTACCCTGCCTCCAGACACGGGAACCATTCTAAAACGGGGGTTCCCTAAGGTCAGCAGCTGTGGTGGTGTGCCCCACCACACAGTACACCACAGACAGAATTTTTGCTACTGATTGACCTGGATTTGTTCTAAGCAGTGATATTTGTGAAATGACAGATGCTAGTATTTTTCTCTAATACACATTAAAGTAAGTATGTAACTATTAAAAATAGACGACTTTAAAAATAACCACCTACATACGACTATTTTAAAGTTCAGATTTTAAAAACATTCATCTCTAAACCACTTGAGTTGTCACATGTACTGCCCTCTGTACACATCCCACACTCGGGGAAGCTGCCAGGCGGGTCAGGATGGCTCCTGCTCACATTTTGCACGTCCCGTGGTGCTCACCTGAGGGTCTCCTCTGCTACATCTGAAGCTAGTTGTCCCCTTTTTGCCTTTTGGAAATTGAAGAGCCACTCTGTGTCCCTGTTCCCCAGACTAGGGCAACACTGAGGGTTCACGTGAATGAGAGACTCAATACGTCCCCCTCACCCCTCTCATGTTTCTCTCCTCAGGTCCAGCGTCCCATCCCTCTGACGCCAGCCAACCCCAGCATGCCCCCACTGCCACAGGGCTCGCTCACCCAGGAGGAGTTCATGGTTTCCATGGTTACCGGCCTGGCCTCCTTGACATCCAGGACCTCCATGGGCATTCTTGTTGTTGGAGGAGTGGTCAGTGACCAGTTCTGCTCGGGAAGGTGGGGGCGGAGGGCAGGTGGGCGGGGCCTGAGGGCTAGGTTCCTGCTGTGGCCCCTGCATTGGGCCACACTCCACAGTCCACTGCATACTTTCTCCTCTGTGATTGCATGGGGAGCGCTTACTCCCTCACCAAGTTTCCCTCACTTCCTGCTGGACATGGTCCCAGACCTTCTGGCCTCGGTGGGATCAAAGGAGACATTGAAAGAGGAACTCAGAGTAGAAACATGAAGGCTCCTTGGCTGGGGCCCTTCAGATGGCCCT
|
GAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCAGGTGAGAAATGAGGAGGAGGCATTCTGGGAAGATTTGGACTCCGAGTAGAGTCCAGAAGAAAGCAGACCTCCTCCTCTTAGGGACTTCTCAGCCTTTCAGAAGAAAGTTGTGGCCCTGTTTCAAGAATACAGAGCTGCCGTTTGGGTTCCATTGTCGGGTTGTGTGATGCTGGGCATGTTCCCTTTCCTCTGGACCTCCACAGATCATGTGGGCGTTTGATCAGCCAGTTTCCCAGACCCTCTCACTTCAGAGGCTTTAATTCCATAGAGGAGCTGAGGAGGCTGCTGGTTTGAGAGGAAGGATGTGCCATCTGCTAGGATCTCTCCTGGTGCTGCAGGAGTGAACTTTGGTCTTCCTTGATACTTAACAGTGTGCTTCCTTTTGCTGTAGGTGTCGACTGCAATGGCCGAGGAGATCAGGCGCCTCTCTGTACTGGTGGACGATTACCAGATGGACTTCCACCCTTCTCCAGTAGTCCTCAAGGTTTATAAGAATGTGAGTCATGGAGCAACAGGTCCTCTTGGCAGGAGGCCCCCAAAAGTGATTCAACCCCTGTTGGTCTGGGTCAGGGCCCCCCAGCAGTGACAGTAGAAGCCACAGAGACAAGGCCCAGGCTTCCGTCAGCCTTCTGGGGTCACCTGGTGGATGTGGCCTGAAGGGAATTTTGATGGACATGCTTCTCTTAACTTCCCTCTTCTGGTGGCAGGAGCTGCACCGCCACATAGAGGAAGGACTGGGTCGAAACATGTCTGACCGCTGCTCCACGGCCATCACCAACTCCCTGCAGACCATGCAGCAGGACATGATAGGTTAGTGCCATGGGGAACTGGGCAGCTGTGGCCCTGGGCTGCCCAAAGATCAGATGCGGAGGCCAAGCTAAAGAAATCAGGACTTTCCTTATCTGTCACTTTTCATGATGATTCAACTCGATACCTTCAGGTTCTGGGTACATGTTCTGAACTCATTCTTGTTTGCTTTTTGAGACAGAGTCGCACTCCGTAACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCACCGAGGTTCAAGCGATTCTTCTGCTCCAGCGTCCCGAGTAGCTGCGACTACAGGCGTGACCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCACGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAAGTGATCTATCTGCCTTGGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACCGGCCCTGGCCTTGTGAACTCATTCTGTACACAGGGTTGGGGAGCCCATCTTGTTCTACTACATGGGTCTACCCTAGGCTGAGAATTGGGCCTGCTCCTTTAAGTCCACGTGAGGCATAAGTGTTAGCAGTATGGCATCTGAGTCCACACTTGCCTGGGAGAGCTGGCCTCAAGTGAGGCATGCTCAGTCTCACGGGCCAACTTGACTGGGGTGTGGTTCCCAGGCAAAGCTGTTCAGCATCCCTGGCAGTAGCTGGTAGAGCCCTGTCTCCAAGGCTTGGTGCCGCTGTGGTGCAGGGCTGAGCTGATAAGCTTTTCCTCCATTTCTCTTCCTGACAGATGGCTTGAAACCCCTCCTTCCTGTGTCTGTGCGGAGTCAGATAGACATGCTGGTCCCACGCCAGTGCTTCTCCCTCAACTATGACCTAAACTGTGACAAGCTGTGTGCTGACTTCCAGGAAGACATTGAGTTCCATTTCTCTCTCGGATGGACCATGCTGGTGAATAGGTTCCTGGGCCCCAAGAACAGCCGTCGGGCCTTGATGGGCTACAATGACCAGGCAAGCAAAGTTCCTCACCTCAAGGGCATTGTGGGGGGTCAGTCTGTACCCTGCCTCCAGACACGGGAACCATTCTAAAACGGGGGTTCCCTAAGGTCAGCAGCTGTGGTGGTGTGCCCCACCACACAGTACACCACAGACAGAATTTTTGCTACTGATTGACCTGGATTTGTTCTAAGCAGTGATATTTGTGAAATGACAGATGCTAGTATTTTTCTCTAATACACATTAAAGTAAGTATGTAACTATTAAAAATAGACGACTTTAAAAATAACCACCTACATACGACTATTTTAAAGTTCAGATTTTAAAAACATTCATCTCTAAACCACTTGAGTTGTCACATGTACTGCCCTCTGTACACATCCCACACTCGGGGAAGCTGCCAGGCGGGTCAGGATGGCTCCTGCTCACATTTTGCACGTCCCGTGGTGCTCACCTGAGGGTCTCCTCTGCTACATCTGAAGCTAGTTGTCCCCTTTTTGCCTTTTGGAAATTGAAGAGCCACTCTGTGTCCCTGTTCCCCAGACTAGGGCAACACTGAGGGTTCACGTGAATGAGAGACTCAATACGTCCCCCTCACCCCTCTCATGTTTCTCTCCTCAGGTCCAGCGTCCCATCCCTCTGACGCCAGCCAACCCCAGCATGCCCCCACTGCCACAGGGCTCGCTCACCCAGGAGGAGTTCATGGTTTCCATGGTTACCGGCCTGGCCTCCTTGACATCCAGGACCTCCATGGGCATTCTTGTTGTTGGAGGAGTGGTCAGTGACCAGTTCTGCTCGGGAAGGTGGGGGCGGAGGGCAGGTGGGCGGGGCCTGAGGGCTAGGTTCCTGCTGTGGCCCCTGCATTGGGCCACACTCCACAGTCCACTGCATACTTTCTCCTCTGTGATTGCATGGGGAGCGCTTACTCCCTCACCAAGTTTCCCTCACTTCCTGCTGGACATGGTCCCAGACCTTCTGGCCTCGGTGGGATCAAAGGAGACATTGAAAGAGGAACTCAGAGTAGAAACATGAAGGCTCCTTGGCTGGGGCCCTTCAGATGGCCCTN
|
benign
| 3,288 |
Does the chromosome 1 mutation at position 12373755 within gene VPS13D (vacuolar protein sorting 13 homolog D) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['VPS13D-related_disorder']
|
AAAGTACCCAGTATTTTTTGTGGCTGAATACTATGCTGTATACTACATTTTTGTTTATCCAGTTATTTGTTGATGGACATTTGGTTGTTTCTGCGTTTTGGCTATTGTAAACAGTGTTGCTATGAACATGCCTGTACATATATTTGTTTGAGTACTTGTTTTCAATTCTTTTGCTTTATACAGAAGAGTGGAGTTGCTGGGTTCTATTATAATTCTAAGTTTAACTTTTTGAGGAACCGCCATACTGTTTTCCACAGTGGCTAAACGATTGTACATTCCTACCAACAGTGTAGAGAGGTTCCAATTTCTCCACATCCTCACCAACATGTGTTGGTTTTTGTTTTTGTTTTTATTTTTATTTCTATTTTTGAGACAAGGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCCTGCTGCATCCTCAACCTCCTAGGATCAAACGGTCCTCCTGCTTCAGCCTCTCTCATAGCTGGGACTACAGGTATGCAGCACCACGCCCAGCTAATTGAAAAAAAATTTTTTTTTGGTAGAGACAGGGTCTCACTATTTTGCCCAGGCTGGTCTCAAACTCTTGGGCCCAAATGCTATCTACCTGCCACAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGTGCCAGGCCTGGTTTTGTTTTGTTTTGTTTTGTTTTAAATGATACCCATCCTACTGGGTATGATGTGGTATCTCATTGTGGCTTTTGATTTGCATCCTTAGTAACTAATGATGTTATGCGTCTTTTCATGTGCTTATTAGTCATTTGTGTATATTATTTGGAGAAAGTGTATTCAAATACTTTCCATATTTCAAATGGAATTATTTACCTTTTTATTGTTGAATTGTCAGAGTTCTTCATATCTGGTCTCTTACCAGATGTATGATTTGCAATTTTTTTCTCCCATTATTTTTGTGAGTTTTCTTTTTACTTTTAGATTGTGTCCTTTCAAGCACAGAAGTTTCTCATTTTGGTCACATATAATTTATCTGCTTTGGGGGGAACAAAGATTACTTGTGCTTTTGGTGTCATGAAGACTAGTTTTTAACGCTGAATTAATCCATTACCTTTTTTTTTTTTTTTTTTTGCTAATAAGGGTTAATAGAAAGAGGAGAATAATCTAAATAAAACTTCCAAACATCCCTAAGTGTAGCCAGGCTGCAACATTCCATAAAGCTTAGGATTCTTTAGCTTCAGAGAAACGTAACACGATTGAATTGGAGGAAGTTGATTGGAACCCTTTGTTTTCTTTTCATCCTAAAGGGACTTCTGATTTCTTGCCAAGACTTGGGGATGCAGTGATGCTGATCATCTGCCTGGCAGAGTAAAGCTAATTTTTGGTCCCTTGAATTGTCTGGCTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTTGGGGGTTGGGGCAGAATCTCATTCTGTCACCCAGGCTAGAGTGTAGTGGTGCAGTCTCAGCTCACTGCAACCTCTGCCTCTCAGGTTCAAGCAATTCTCATACCTCTGCCTCGTGAGTAACTGGGATTACAGGGGCCTGCCTCCATGCCCGGCTAATTTTTGTGTTTTTAATAGAGACGGGATTTTGCCGTGTTGGTCAGGCTGGTTTCGAACTCCTGGCTTCAGCAGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGTGCCTGGCCAAATTTTTTGCCTTTTTTTTTGGTGGGGGGGCCTCTAAAGATATATGGTTATACTTTTGCATCTGAATTTTAAGTCACTAAAATTATGAAGAGAAGAAAAATGTCAGAGTATGTCTTCTGAGAGATGAATCTTGGAACTGTGTAGGGAAAAAAATGCAACCCTGATCTTTCTGCTCTTGCATCAGACTTTTTCTTCTATCCTTTAAAAAATTTTCTTTTTAATAAAAGTTTTGGGCATTTGCTTATTAATACTTGAATACATGTGTGAGTATGTGTGTGTATACCTGTATATATATTTTTATGTAATATATATATTTTTTAAATTCTAGCTTGCAGGAGGGAACAGGCAGGCCTGTGGCTTCCAACAAGGCCATTACCTGTGCGGAGCTCGTTTTGGATGTCTCACCCAAGACACAAAGAGTCATTTTAAAAAAGAAGGTAAGAGAGCTTACAATCAGAGTTTAGAATACAAGGTTTTTAGCACTGGACGGGACTCAGGATCACCCAGTGCAGAGTCCTTATTTCATGATGAGGCCATAGGGACTTGTGTGGAACCCAGGCCTCTTGGCATTTCCAGGTCAGTGTTAGGGCGGATGAGTACCAGCTCAGGAGTAAGATGACTTCTGGAGTGGGATGTGATCACCAGGTGTGATCAGCAGAACGTGAATAATAAATATATGTGGAATTACTAAGGGCTGGGTGACTGTTAAGCAGACAAGAACAAATTTCTAAGATTAAGTAGCAATAATTGTAACATTTTATATAACATTTTATAACTTATAGAACATTTTCAGTTATTATTTCACTTGATAAGGATGACAGCTAGTAAATAGGTAATAAAAGAGTTACATTGACATTGAAAATTAGGTTAAAGTGTATGAACTGGCATGAAGAAATGGACCTCTCCTTTTTAGTTGGAAACCAAGTGTAGAAAGTTTGACATTTTAGGTTTTTGTTTGGTTTGTTTTTGTTTTTTTTACTTTTTATTTGGAAACAATCTCAGATTTCCAGAAAATTGGCAAGAATTTTACCAAAGTGGGGCTGTGATGTTGATTTGTCCCCTTACTGGTGACATTAACTTATTGCAGTTGATTAAGAAGGTGTGTGGTAGCCTTTTCCACTGAGAAGTGAGGCTACTCTTTTTCTTTTTATAATCAGTCAAGATTTTGTGGCGTGGTACGTTGAGACTACATAAACCTCCTATTTGTCATATTTTCTATATATGTATGCATATGTATATGTGTCATTCAGTATGGGCTGCTGTTTTATTCAGCGTGTTATCTGTTACTGTGTCAGTATGTGTATGCGTATGTATGTATGTATTTATTTATTTTTGAGATGGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCACCACCACACCCAACTAATTCTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGGCCTCCGAAAGTGCTGGGATTACAGGCCTGAGCCACCATGCCCGGCCAGTATTTATTTTGATGCTCAGTTTTTCTTATCTTTGGCCAGTGGGAGCTCCTTTAACCTTCCGTGTGCTTTCAGCATGTGCCCTCACTCACTTCCTTACTTTCTGACACAGCAAGTTATCCTGGGTCAATCTTATATTTTTCCCTGCACCATTCCTGGAATTTGCCATTTCTCCAGGGAGCCCTCATCCCTTCTATCAGAGAATGGAATTTAGAAACCTGAGATTCATGAATTAGGTGCAGTTGTTGCTATTGTGGTGTTGTGGTTCCCAGGCTCTCTCAGAAGACAGACCTAGGGTTTTTTAATCTATGTATGCACAAATATACATATGTGTGTTTTATGTACATATTTATATACTGTACATATTTATTTCTATGTCTACATATCAAAATCTAGCAGTTCACACCAATATTTCCAATTCAAGTCCAGTATGACAAAGTTCATTCTAATTTTCTCCCTTTCCCTATTTGTACTTCCCTTGTCCAGCACTGAGAATATGTTTATTGATTTGATCAGTTCCCCTGAATGTAACAGTGTAACTCATCCTCCGTCACCACAGTTGTCCCATGTCCTGTATGAACACCCTGGTTTCTTCCCTTGGGCTCTGATCTCCATGTACTGGGCAGCCCTGCCCTCTTCCCACCCTGTCCTTCGCAGGAATGCCCTCCTCACCTCCCTCTGTGATGCTCCCATTAAACCCCTCCCCAACCTCCCAACTTGGCTTCAGCCCCTGCTCTGGGCTGCCCCATCGCTTAGGTGGATGCCT
|
AAAGTACCCAGTATTTTTTGTGGCTGAATACTATGCTGTATACTACATTTTTGTTTATCCAGTTATTTGTTGATGGACATTTGGTTGTTTCTGCGTTTTGGCTATTGTAAACAGTGTTGCTATGAACATGCCTGTACATATATTTGTTTGAGTACTTGTTTTCAATTCTTTTGCTTTATACAGAAGAGTGGAGTTGCTGGGTTCTATTATAATTCTAAGTTTAACTTTTTGAGGAACCGCCATACTGTTTTCCACAGTGGCTAAACGATTGTACATTCCTACCAACAGTGTAGAGAGGTTCCAATTTCTCCACATCCTCACCAACATGTGTTGGTTTTTGTTTTTGTTTTTATTTTTATTTCTATTTTTGAGACAAGGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCCTGCTGCATCCTCAACCTCCTAGGATCAAACGGTCCTCCTGCTTCAGCCTCTCTCATAGCTGGGACTACAGGTATGCAGCACCACGCCCAGCTAATTGAAAAAAAATTTTTTTTTGGTAGAGACAGGGTCTCACTATTTTGCCCAGGCTGGTCTCAAACTCTTGGGCCCAAATGCTATCTACCTGCCACAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGTGCCAGGCCTGGTTTTGTTTTGTTTTGTTTTGTTTTAAATGATACCCATCCTACTGGGTATGATGTGGTATCTCATTGTGGCTTTTGATTTGCATCCTTAGTAACTAATGATGTTATGCGTCTTTTCATGTGCTTATTAGTCATTTGTGTATATTATTTGGAGAAAGTGTATTCAAATACTTTCCATATTTCAAATGGAATTATTTACCTTTTTATTGTTGAATTGTCAGAGTTCTTCATATCTGGTCTCTTACCAGATGTATGATTTGCAATTTTTTTCTCCCATTATTTTTGTGAGTTTTCTTTTTACTTTTAGATTGTGTCCTTTCAAGCACAGAAGTTTCTCATTTTGGTCACATATAATTTATCTGCTTTGGGGGGAACAAAGATTACTTGTGCTTTTGGTGTCATGAAGACTAGTTTTTAACGCTGAATTAATCCATTACCTTTTTTTTTTTTTTTTTTTGCTAATAAGGGTTAATAGAAAGAGGAGAATAATCTAAATAAAACTTCCAAACATCCCTAAGTGTAGCCAGGCTGCAACATTCCATAAAGCTTAGGATTCTTTAGCTTCAGAGAAACGTAACACGATTGAATTGGAGGAAGTTGATTGGAACCCTTTGTTTTCTTTTCATCCTAAAGGGACTTCTGATTTCTTGCCAAGACTTGGGGATGCAGTGATGCTGATCATCTGCCTGGCAGAGTAAAGCTAATTTTTGGTCCCTTGAATTGTCTGGCTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTTGGGGGTTGGGGCAGAATCTCATTCTGTCACCCAGGCTAGAGTGTAGTGGTGCAGTCTCAGCTCACTGCAACCTCTGCCTCTCAGGTTCAAGCAATTCTCATACCTCTGCCTCGTGAGTAACTGGGATTACAGGGGCCTGCCTCCATGCCCGGCTAATTTTTGTGTTTTTAATAGAGACGGGATTTTGCCGTGTTGGTCAGGCTGGTTTCGAACTCCTGGCTTCAGCAGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGTGCCTGGCCAAATTTTTTGCCTTTTTTTTTGGTGGGGGGGCCTCTAAAGATATATGGTTATACTTTTGCATCTGAATTTTAAGTCACTAAAATTATGAAGAGAAGAAAAATGTCAGAGTATGTCTTCTGAGAGATGAATCTTGGAACTGTGTAGGGAAAAAAATGCAACCCTGATCTTTCTGCTCTTGCATCAGACTTTTTCTTCTATCCTTTAAAAAATTTTCTTTTTAATAAAAGTTTTGGGCATTTGCTTATTAATACTTGAATACATGTGTGAGTATGTGTGTGTATACCTGTATATATATTTTTATGTAATATATATATTTTTTAAATTCTAGCTTGCAGGAACAGGCAGGCCTGTGGCTTCCAACAAGGCCATTACCTGTGCGGAGCTCGTTTTGGATGTCTCACCCAAGACACAAAGAGTCATTTTAAAAAAGAAGGTAAGAGAGCTTACAATCAGAGTTTAGAATACAAGGTTTTTAGCACTGGACGGGACTCAGGATCACCCAGTGCAGAGTCCTTATTTCATGATGAGGCCATAGGGACTTGTGTGGAACCCAGGCCTCTTGGCATTTCCAGGTCAGTGTTAGGGCGGATGAGTACCAGCTCAGGAGTAAGATGACTTCTGGAGTGGGATGTGATCACCAGGTGTGATCAGCAGAACGTGAATAATAAATATATGTGGAATTACTAAGGGCTGGGTGACTGTTAAGCAGACAAGAACAAATTTCTAAGATTAAGTAGCAATAATTGTAACATTTTATATAACATTTTATAACTTATAGAACATTTTCAGTTATTATTTCACTTGATAAGGATGACAGCTAGTAAATAGGTAATAAAAGAGTTACATTGACATTGAAAATTAGGTTAAAGTGTATGAACTGGCATGAAGAAATGGACCTCTCCTTTTTAGTTGGAAACCAAGTGTAGAAAGTTTGACATTTTAGGTTTTTGTTTGGTTTGTTTTTGTTTTTTTTACTTTTTATTTGGAAACAATCTCAGATTTCCAGAAAATTGGCAAGAATTTTACCAAAGTGGGGCTGTGATGTTGATTTGTCCCCTTACTGGTGACATTAACTTATTGCAGTTGATTAAGAAGGTGTGTGGTAGCCTTTTCCACTGAGAAGTGAGGCTACTCTTTTTCTTTTTATAATCAGTCAAGATTTTGTGGCGTGGTACGTTGAGACTACATAAACCTCCTATTTGTCATATTTTCTATATATGTATGCATATGTATATGTGTCATTCAGTATGGGCTGCTGTTTTATTCAGCGTGTTATCTGTTACTGTGTCAGTATGTGTATGCGTATGTATGTATGTATTTATTTATTTTTGAGATGGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCACCACCACACCCAACTAATTCTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGGCCTCCGAAAGTGCTGGGATTACAGGCCTGAGCCACCATGCCCGGCCAGTATTTATTTTGATGCTCAGTTTTTCTTATCTTTGGCCAGTGGGAGCTCCTTTAACCTTCCGTGTGCTTTCAGCATGTGCCCTCACTCACTTCCTTACTTTCTGACACAGCAAGTTATCCTGGGTCAATCTTATATTTTTCCCTGCACCATTCCTGGAATTTGCCATTTCTCCAGGGAGCCCTCATCCCTTCTATCAGAGAATGGAATTTAGAAACCTGAGATTCATGAATTAGGTGCAGTTGTTGCTATTGTGGTGTTGTGGTTCCCAGGCTCTCTCAGAAGACAGACCTAGGGTTTTTTAATCTATGTATGCACAAATATACATATGTGTGTTTTATGTACATATTTATATACTGTACATATTTATTTCTATGTCTACATATCAAAATCTAGCAGTTCACACCAATATTTCCAATTCAAGTCCAGTATGACAAAGTTCATTCTAATTTTCTCCCTTTCCCTATTTGTACTTCCCTTGTCCAGCACTGAGAATATGTTTATTGATTTGATCAGTTCCCCTGAATGTAACAGTGTAACTCATCCTCCGTCACCACAGTTGTCCCATGTCCTGTATGAACACCCTGGTTTCTTCCCTTGGGCTCTGATCTCCATGTACTGGGCAGCCCTGCCCTCTTCCCACCCTGTCCTTCGCAGGAATGCCCTCCTCACCTCCCTCTGTGATGCTCCCATTAAACCCCTCCCCAACCTCCCAACTTGGCTTCAGCCCCTGCTCTGGGCTGCCCCATCGCTTAGGTGGATGCCTNNNN
|
pathogenic
| 3,433 |
The genetic variant at chromosome 1, position 15445687, affecting gene CTRC (chymotrypsin C): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Hereditary_pancreatitis', 'Pancreatitis,_chronic,_susceptibility_to', 'likely other unspecified diseases']
|
TGCCTTCACATTTTCATGTCTTTGTAAACTTTGTAACAATAACAGCTAATATTTACTAAGCACATACCATGTGACAGACACTCTAGCAAGGGTCTCTGAGAGATGTGGTAAAGTTTAGACGAATTAGAATTTGTCAAGTGCTCAGAACAGCACTTGGCACATAGTAAGTGTCACATAAATAAACTAAAATAAACCATTAGGGGTAGGGGATGACATCTGTGGTATACCGTATGCCCAAATAGGTCCCAGCTGAATTAAAAGTTAAATGCAAATCATGAAACTATGGGAGACTTAGAAAATGCAGATCACTATTTAGAAAATCCTGGGGGAGAAGTCAGCTGTGGCGGCTCACACCTGTAATCCCGACATTTTAGGAAGCTGAGGAGGAAAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTGCCTCTACAAAAAAAAAATTTTTAAATAGCAGTGTATGGTGGTGTGTACCTGTAGTCCCAAACTACTCAGGAGGCTGAGGTGAGAGGATCATTTGAGCCCAGGGGTTTGAGGCTGCAGTGAGCTATGATCTTGCCACTGCTGTCCAGCCTGAGCAACAGAGTGAGACCTTGTATGTATCAAAAAAAAAAAGAAAGAGAAATAGAAAATCTTGGGGGTGAGAAAGGCTTTTTAATGGGTGACAGCAAAGACAGAGACCCACAGGAAATTATTGACAATTAAATCCCCAGAATCCAACTTAAAGACAACTCAACTCAACACTGTAGCTTCCTTCTGCCGGCAGCCTGCTCCTGACCCTCTGGGACCTTGGCTTGCCTCTTGATGAAGGGCAGGTGTGTGGTCCGCACACTGTCTCAGCCGGCGCTCCCCTGGGTCCTGTCCCAGGCATCTGCTCCCTGAAGGCCTGGGGAGGGGCTGGACTGGGCTTCCCGGCTGCCTCCCTGGTCACTGCTCACTCTCTCCCCAGCCAACGGCCCCATTGCTGATAAGCTGCAGCAGGGCCTGCAGCCCGTGGTGGATCACGCCACGTGCTCCAGGATTGACTGGTGGGGCTTCAGGGTGAAGAAAACCATGGTGTGCGCTGGGGGCGATGGCGTCATCTCAGCCTGCAATGTGAGTGGCTAGGTTCTGCACCTTGTCCCTACTCCAAGTGGCCAAGTGGATGTGGGCAAAGGGGGGTGCGATGGACCAAACCCTTCTCCTGGGAGGAGACTGAGCGAGCCCTGGCTGGGCCCAGCAGGCTCAGGGTAAGCCCATCACCCCCCATCACTGTGGTGAGAGCATGAGCATTGAGCACGAGTATCTGAGTTCAAGCCCCAGTCCCACCATTTATGAGCTACGTAAACTTGGGAGGGCCGTTGAACCTCTGACCTCAGTTTTTCCATCTGTAAAATGGAGTTACAGTAACCACTTCACAGGGTTAGGACTAAATGAGTTTAAAGGACAGAGAAGAGGCTTCACTGAAGTCTCTACACATGTTCCTCCATGCATTTGCTCCACCAGTCCAGGGAGACCAGAACCATAAAACATCTAAGACAATCAGGGAATGTCCTGTTTTCAAACACACAACCCTCTCCCCATTCTCACCCTCCTTCCTCACCTTCCCAGGCCTCTAGCACAGCTGCCTGCATCCTCACTGCTCTGAGTAGCTCACAGAGTCTTAGATAAGGAGACCTGAACAGCTAGGGAAACTGAGGCACGGAGAGGATTAACATCATCCCAAGATCACACAGCAAACCAAGAGCTAGTCTGACACCCCAGGGCCTCCCAGAATAAGGCCAAGGCAGCCGCAAACCACATTTCCTCTGCCTCCCTCACCATGGGCAGGCTGAGGCCAAATCTGTCCACTAACTAAGGCTGAGAAGCCAACCCACATCCCCCACCCCAACCCAGTCCTGCTTCCCAAGACTTCCTCTGGGGGGGGGCCTGGTGGCTTATGCCCTCCCGGTCTGGTGCAGGGGGACTCCGGTGGCCCACTGAACTGCCAGTTGGAGAACGGTTCCTGGGAGGTGTTTGGCATCGTCAGCTTTGGCTCCCGGCGGGGCTGCAACACCCGCAAGAAGCCGGTAGTCTACACCCGGGTGTCCGCCTACATCGACTGGATCAACGAGGTGGGTGCTGCCTCCACAGCTGTCCCTGCACCTGTCAGCCCCTCCCCCTCACTCACCCATCCCCTCACTCATTCACTCATTCATGCGTTTATTCATTCATTCATTTATTCACTCATTCATGCATTTATTCACTCATTCATGCATTCATTCATTTATTCACTTATTCAGTCACTCATTCATGTATTTATTCATTTATTCATTCACTCATGCATTCATTCATTCATTTATTCACTTATTCATTCACTCATTCATGTATTCATTCATTCATGCATTTATTTACTCATTCATCCATTTATTCACTCATTCATTTGCTCATTCAGTGATTCATTCATGCACTTCTTCACACATTCACTCTCTCATTCAAGTAATATTGGTTGAGTGCTTCCAGTAGCAGGCCTTGAGTTGGGTGCCAATAAGGAAACAGTCATTGACTCCTCCATCCATCCATTCACTGCCTTCATCAAGCACTTATGTCCCCATCCAGGCCCCACACCAGTCTCCCCCAAAAACTGACCCCCTGAGGGTATGGCCCAGCAGAGGAGAGGGATGGTGTGGATGGCCATTTCTCATCTTGAGAGTAGGGGAACAGAGGGTCACCCTGGGCTGGGGGCTTCCCCATTGGGGACAGAGTGTGTTCCAAGACCCATTTGCACAGTGGCCTGAAATGCTGAGGGCCTCAGACCCCTTGAACAGGGACAAGGCTGGCATGTGAAGGCCGGGGGCTGCTGGCCATGCCCCCATGGACCCACCCTCCGGGCAGAGCCCTGTGCCACCCTAGAAGGTGGCACAGCCCTGAGTCTCTCACACTGTTCTCTGCTCCTCCAGAAAATGCAGCTGTGATTTGTTGCTGGGAGCGGCGGCAGCGAGTCCCTGCAACAGCAATAAACTTCCTTCTCCTCGGGCCACCTGGATCCTTGATTTGTGCAGCTTCTGTTGCTTCCCTCCTCTCTGGTGCTGCCCCTTTCCACACTATGGAGCCAAAGAGAGACCCCACTCAGCCAGTTTCCCCCACCCTGCATTAGACAGGTGGGGAAACAGAGGCCGGGAGAGAGGGCCAAGGAAGGAGCCTCCTGGGGCATTAATGGGAGGCAGGGGGCTGGGGTGGAGAGCCCAGGGAGTCCTGCGTGAAGCCGGAGGGGATGGGAGTGAAGGACGCATCAGACACCTTCCCCGCTCCATCTCACAAGCTGCGAACAGGTGAGACCCTGATGAAATCACTCGCTTCTCCGATCCTACCTCCACCGAGGGGCCTGGCAGGTCCTCACAGCCCCCCAGCAGCAGGTGGAAGACAGGGTCTCCCCAAAAGCAGCGTCCCCCAGGCCAGAGAGACCAGGCCACAGGAGGATGGCCAAAGCTCAGGGACAACCACTCCTGGGGAAGGGGCTCCCTAGCAGGGACCCCCCACCCCCACCCCGCAGCACAGACCCCATGGCTGCTGTTGGCAGGGGCTCTCTGCTTTGAGAAGTGTTTAGTGAGCCAGCCCCTGTGTCCAGTCCTGTGCTGGGCATGATGAGGGTACAGGAAGAGGAAGAGACCCCAGCATCATCCTCAGGAGACATACGTTTGAAGAAGGCAATGGTTTCCACACAGAATCACAGTGGTCAGAGCTGGATATGCTTTCATTGCATTAGACAAGTGGGGAAACTGAGGCCCAGAGAGAGGAAGGAGTTGGGATAGCTGGCAATGCCTGATCCAGGAGAAGAGAGTTCTCCTGAGGCTGACAAGAGGCCAAGAGGAGCCAGAGATGAGATAGACCCAGTGTCCAGGGAGGGACATGCCAGTGGGATCAGACCCTGATGACAGGGGCAGCCAGAGATGAGAGAGATCCAATGTCCAGGGAGGGACATGCCAGGGGGATCAGACCCTGATGATAGGGGCCTCTGGCCTGGCCTGCTCCTGGGAATGTCCTGTTCTGTGGGGGTGCCCCCAGCCCAGCCTCTGGACCCCTCGCTGGAGAGCCCTCGGCTGCAGCTACCTCAGACTGG
|
TGCCTTCACATTTTCATGTCTTTGTAAACTTTGTAACAATAACAGCTAATATTTACTAAGCACATACCATGTGACAGACACTCTAGCAAGGGTCTCTGAGAGATGTGGTAAAGTTTAGACGAATTAGAATTTGTCAAGTGCTCAGAACAGCACTTGGCACATAGTAAGTGTCACATAAATAAACTAAAATAAACCATTAGGGGTAGGGGATGACATCTGTGGTATACCGTATGCCCAAATAGGTCCCAGCTGAATTAAAAGTTAAATGCAAATCATGAAACTATGGGAGACTTAGAAAATGCAGATCACTATTTAGAAAATCCTGGGGGAGAAGTCAGCTGTGGCGGCTCACACCTGTAATCCCGACATTTTAGGAAGCTGAGGAGGAAAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTGCCTCTACAAAAAAAAAATTTTTAAATAGCAGTGTATGGTGGTGTGTACCTGTAGTCCCAAACTACTCAGGAGGCTGAGGTGAGAGGATCATTTGAGCCCAGGGGTTTGAGGCTGCAGTGAGCTATGATCTTGCCACTGCTGTCCAGCCTGAGCAACAGAGTGAGACCTTGTATGTATCAAAAAAAAAAAGAAAGAGAAATAGAAAATCTTGGGGGTGAGAAAGGCTTTTTAATGGGTGACAGCAAAGACAGAGACCCACAGGAAATTATTGACAATTAAATCCCCAGAATCCAACTTAAAGACAACTCAACTCAACACTGTAGCTTCCTTCTGCCGGCAGCCTGCTCCTGACCCTCTGGGACCTTGGCTTGCCTCTTGATGAAGGGCAGGTGTGTGGTCCGCACACTGTCTCAGCCGGCGCTCCCCTGGGTCCTGTCCCAGGCATCTGCTCCCTGAAGGCCTGGGGAGGGGCTGGACTGGGCTTCCCGGCTGCCTCCCTGGTCACTGCTCACTCTCTCCCCAGCCAACGGCCCCATTGCTGATAAGCTGCAGCAGGGCCTGCAGCCCGTGGTGGATCACGCCACGTGCTCCAGGATTGACTGGTGGGGCTTCAGGGTGAAGAAAACCATGGTGTGCGCTGGGGGCGATGGCGTCATCTCAGCCTGCAATGTGAGTGGCTAGGTTCTGCACCTTGTCCCTACTCCAAGTGGCCAAGTGGATGTGGGCAAAGGGGGGTGCGATGGACCAAACCCTTCTCCTGGGAGGAGACTGAGCGAGCCCTGGCTGGGCCCAGCAGGCTCAGGGTAAGCCCATCACCCCCCATCACTGTGGTGAGAGCATGAGCATTGAGCACGAGTATCTGAGTTCAAGCCCCAGTCCCACCATTTATGAGCTACGTAAACTTGGGAGGGCCGTTGAACCTCTGACCTCAGTTTTTCCATCTGTAAAATGGAGTTACAGTAACCACTTCACAGGGTTAGGACTAAATGAGTTTAAAGGACAGAGAAGAGGCTTCACTGAAGTCTCTACACATGTTCCTCCATGCATTTGCTCCACCAGTCCAGGGAGACCAGAACCATAAAACATCTAAGACAATCAGGGAATGTCCTGTTTTCAAACACACAACCCTCTCCCCATTCTCACCCTCCTTCCTCACCTTCCCAGGCCTCTAGCACAGCTGCCTGCATCCTCACTGCTCTGAGTAGCTCACAGAGTCTTAGATAAGGAGACCTGAACAGCTAGGGAAACTGAGGCACGGAGAGGATTAACATCATCCCAAGATCACACAGCAAACCAAGAGCTAGTCTGACACCCCAGGGCCTCCCAGAATAAGGCCAAGGCAGCCGCAAACCACATTTCCTCTGCCTCCCTCACCATGGGCAGGCTGAGGCCAAATCTGTCCACTAACTAAGGCTGAGAAGCCAACCCACATCCCCCACCCCAACCCAGTCCTGCTTCCCAAGACTTCCTCTGGGGGGGGGCCTGGTGGCTTATGCCCTCCCGGTCTGGTGCAGGGGGACTCCGGTGGCCCACTGAACTGCCAGTTGGAGAACGGTTCCTGGGAGGTGTTTGGCATCGTCAGCTTTGGCTCCCGGCGGGGCTGCAACACCCGGGTGTCCGCCTACATCGACTGGATCAACGAGGTGGGTGCTGCCTCCACAGCTGTCCCTGCACCTGTCAGCCCCTCCCCCTCACTCACCCATCCCCTCACTCATTCACTCATTCATGCGTTTATTCATTCATTCATTTATTCACTCATTCATGCATTTATTCACTCATTCATGCATTCATTCATTTATTCACTTATTCAGTCACTCATTCATGTATTTATTCATTTATTCATTCACTCATGCATTCATTCATTCATTTATTCACTTATTCATTCACTCATTCATGTATTCATTCATTCATGCATTTATTTACTCATTCATCCATTTATTCACTCATTCATTTGCTCATTCAGTGATTCATTCATGCACTTCTTCACACATTCACTCTCTCATTCAAGTAATATTGGTTGAGTGCTTCCAGTAGCAGGCCTTGAGTTGGGTGCCAATAAGGAAACAGTCATTGACTCCTCCATCCATCCATTCACTGCCTTCATCAAGCACTTATGTCCCCATCCAGGCCCCACACCAGTCTCCCCCAAAAACTGACCCCCTGAGGGTATGGCCCAGCAGAGGAGAGGGATGGTGTGGATGGCCATTTCTCATCTTGAGAGTAGGGGAACAGAGGGTCACCCTGGGCTGGGGGCTTCCCCATTGGGGACAGAGTGTGTTCCAAGACCCATTTGCACAGTGGCCTGAAATGCTGAGGGCCTCAGACCCCTTGAACAGGGACAAGGCTGGCATGTGAAGGCCGGGGGCTGCTGGCCATGCCCCCATGGACCCACCCTCCGGGCAGAGCCCTGTGCCACCCTAGAAGGTGGCACAGCCCTGAGTCTCTCACACTGTTCTCTGCTCCTCCAGAAAATGCAGCTGTGATTTGTTGCTGGGAGCGGCGGCAGCGAGTCCCTGCAACAGCAATAAACTTCCTTCTCCTCGGGCCACCTGGATCCTTGATTTGTGCAGCTTCTGTTGCTTCCCTCCTCTCTGGTGCTGCCCCTTTCCACACTATGGAGCCAAAGAGAGACCCCACTCAGCCAGTTTCCCCCACCCTGCATTAGACAGGTGGGGAAACAGAGGCCGGGAGAGAGGGCCAAGGAAGGAGCCTCCTGGGGCATTAATGGGAGGCAGGGGGCTGGGGTGGAGAGCCCAGGGAGTCCTGCGTGAAGCCGGAGGGGATGGGAGTGAAGGACGCATCAGACACCTTCCCCGCTCCATCTCACAAGCTGCGAACAGGTGAGACCCTGATGAAATCACTCGCTTCTCCGATCCTACCTCCACCGAGGGGCCTGGCAGGTCCTCACAGCCCCCCAGCAGCAGGTGGAAGACAGGGTCTCCCCAAAAGCAGCGTCCCCCAGGCCAGAGAGACCAGGCCACAGGAGGATGGCCAAAGCTCAGGGACAACCACTCCTGGGGAAGGGGCTCCCTAGCAGGGACCCCCCACCCCCACCCCGCAGCACAGACCCCATGGCTGCTGTTGGCAGGGGCTCTCTGCTTTGAGAAGTGTTTAGTGAGCCAGCCCCTGTGTCCAGTCCTGTGCTGGGCATGATGAGGGTACAGGAAGAGGAAGAGACCCCAGCATCATCCTCAGGAGACATACGTTTGAAGAAGGCAATGGTTTCCACACAGAATCACAGTGGTCAGAGCTGGATATGCTTTCATTGCATTAGACAAGTGGGGAAACTGAGGCCCAGAGAGAGGAAGGAGTTGGGATAGCTGGCAATGCCTGATCCAGGAGAAGAGAGTTCTCCTGAGGCTGACAAGAGGCCAAGAGGAGCCAGAGATGAGATAGACCCAGTGTCCAGGGAGGGACATGCCAGTGGGATCAGACCCTGATGACAGGGGCAGCCAGAGATGAGAGAGATCCAATGTCCAGGGAGGGACATGCCAGGGGGATCAGACCCTGATGATAGGGGCCTCTGGCCTGGCCTGCTCCTGGGAATGTCCTGTTCTGTGGGGGTGCCCCCAGCCCAGCCTCTGGACCCCTCGCTGGAGAGCCCTCGGCTGCAGCTACCTCAGACTGGNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 3,519 |
Clinically, how would you classify the variant at chromosome 1, position 15716229, gene PLEKHM2 (pleckstrin homology and RUN domain containing M2): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
CCACCCGCCTTGGCTTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCCTGTTTTGGTTTTTTAATTAGAACATTGCACTAGATCTCTAAGGATGCTTCCAGCTGTAACATCTGTCTATAGGCTCTCTGATCTCAGATTTACTCAGATTTTGAAATTAAAAAAAAAAAAAAAAAAAAAGCTCTACCCCAGTGTGGTCGTACTTAATACTGAAGTGTGCAGTAATGTTTCCAGCTGTTGCTGAGAGGGATTATGCAGTTTTTGCAGGCTTATTCCTCTTTCTTTCAGCTCTAGAAATCTTTCCTTCTGGTGCTCTGATTTGCCTGCCTCTGGGAGGAAGGGAAGGGAAGACCCTGCAGGACTGAGGTTTGTCCTGGCTGACAGGCCTGCCAGGCTTGTTCCGGGCTGCAGAGAAGAGAGGCTATTTTTGTTGTGGGAGCTGAATTGTTGGTCTCTCTCCAGGAGCACATGCTTGTTGGTGTGGTTGATGTATCTTGCCTGCTGTGGCCATCTCTACCACTGCTTCCAGAAAACACTTGAGAATACGTTTGTCCCAAGAGGTTAAACCTGAGATCAGGATCAGGCATCTGTGCTCTTGTCTTGTGTTCCACTCCCTTCTGGCCATTGGAAGGGCAGTAGCAGAACAGGATATGGCTAACATGAACTTGGAGAGACTTTTCTCCTAGAGCTGTGCTTGAAAGGGGCCCTCTCTCTGTAACTGCGGTTGCAGTGAACTCAGTCCAATATCTGGGCTTTCTTGTCCTTCAGTAGGCTGATGGAGCTGCCCTTGCCCTCACCAGCCTGGTGGGGTTTGCACAGTGCTGCAGTTCATCTCACCTACTGTCCAAATCTCCTTTTATCAGCCCAGTCCAGGAACAGTGGTGTCCTTCTTGGTGTAGGGCTTAACGTGAGCCTTGCATGCACCTAGATCCATATCCAGCATTGCAGGCAATTCTAGTATTCCATGTCAAGAAGGCTGGCAAGAAGGCTGGTGGGGCAGGTGCCCCAGTCCATCGGCCCTTAGTATATGCAGAGGGTAGCTCCAAGTGGGGCCACTGTGATATGAAGGAGGATTGTTTGAATTCAGGAGATTGAGGCTGCAGCGAGCCGTGATCACACCACTGCACTCCAGCCTGCATGACAGAGTGAGACCCTGTCTCAAAACAAACAGGCCGGGCACAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCGAAACCTCGTCTCTACTAAAGATAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCATGCCACTGCCCTCCAGCCTGGGCGACAGAACAAGACTTTGTCTCAATAAAACAAACAACCAAAAAGAAAAGAAAAAAGATACTTTTCTAATATATGACTGGGAAAAATGGGAAACTATAAAGGAAAAGATGGACAGATTTGACTGCCTAAAAATTAAAACTTTCTCAATAGGGCAAAACAATAACATAAGCAAAGTTTAAAGGTCTGTTGACAATGGGAGGAAAATACGTCTAGCGCTCTCTGTATCAATGCCCCAACTCTGGGTTTGTGTGGCATTGGTCTAGACAGCACTGTACATAGTGCCCCTGAAGTTGTGCCATGCTGTGGCCCTGGCCTGAAGCTTGCCACCACTTGAGACCTATGCATGGACAGTGGATCCCTCCAGCCTCAAGTTGTCACTGTGCGGACTGCTGACTGGGTGCCTCTGGGGGACTGGGCTGTAAAGATACAGCTGTTGCCTGCTGGAACCTCCAGTGCCAGAGCAGCAGCTGGGACAGGGGTGGTTTGAGGTAGACGTCTCTGCTGGTCATTGTGGATACACCATTTGACTAATTTTTTTTAGCTACCTTCTTGATTCCAGAACTTTTGTAGCCTTCCTCTTAATCCATTTCTGATTTGGAGGTGTTTTTTTTTCTTTCAGTTGCAGAGCTATTTTGCTGCATGTGAGGATGAGATCCCTGCCATCCGGAACCATGACAAGGTCCTACAGCGTCTGTGTGAGCACCTGGACCACGCCCTGCTGTACGGGTAAGGTGGAGGAAGTTTCCAAAGATGACGGAGCACAACCCAGGCCATGAGTAGCCTCCACAGAGAAACCCTTAGCCTCTCTGCCTTTTCTTTCTTCTCTCCCCTTGGCAGAAAGGGATTTGTCCCACTCAAGTGGGCCACAGTCTCTCTGTAGTTACCCCAGTAAATCATCTCTGGGCAGACATAAATGATGGAGGGAGGATTTGCCACAAATGATATGATGGTGTGAAGGTGTGCTGGGTGCCTGGGAGACCTGCTGGGGATCCATCACTTCCTGCCTTGCGCTCACTGCTGGACCAGCCGACTGCAGCTTCCCAGGGTGGCCCCATGCAGGTCACAGCAGCTCCTGTCCTGTTTTCTCAGACTGCAAGACCTCTCCTCTGGCTACTGGGTGCTCGTGGTGCATTTTACTCGGAGAGAGGCCATCAAGCAGATCGAGGTGCTGCAGCACGTGGCCACCAACCTGGGGCGCAGTGAGTAGTCACAAGGAGACGCTGGGGAAGGGACCAGCTCCACCTTCGGTGGGTAGCTTGGGGCTCTGTCCCAGGTTTACCCTCAGGGTCAGCCCTGGGAGGCAAATTACCTGGTGGTGTCCAGTAGCAGTGGGGTGTTAAAATGCCAGCACCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGAGGGAGGATGGCTTGAGGCCAGGAGTTTAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCTACAAAAATTTAAATATTACATGGATGTCTTGGTACACACCTATAGTCCCAGCTACTCAGGGGCTGAGGTGGGAGGATGGCTTGAGCCCCGGAGTTTGAGGCTGCAGTGAGGCATGACCACAGCATTGCACTCCAGCCTGGAAGAAAGAGTGAGACCCCATCTCTAAAGATTTAGGAAAATGGCCGGGCACAGTGGCTCATGCCTGTAATTCCAACACTTTGGGAGGGTAAGGCAGGAGGATCCCTTGAGCCCAGGAATTTAAGGCTGTATTGAGCTGTGATCACACCACTATACTCCAGCCTGGGTGACAGAGTCTCTGTCTCAAAAAATAAAATAATAGTAATAAATAATAAATTTATAAAATGCCAGCCCCCTCCATGAGGCCTCTTTTCTCCCCACATATGATGGTTTTTTGGCACAGCAGTGATGGGGAGAAAGAGGGCGAGCTGCCAGCGAGAGCTGGACTCTTATGGAATCCCAGCCTGAGCACGTGCTATGGAGTCTGGTTTCTCTCCCTGAGCTGGGATCACTGTTAGCCTACAGGATCAGTGCAGAGTCCTGGCGTTTCTTGACCTGTCTGAAGTGTGCAGTCTGCCCTCTTTATCAGAATTTCCTGGCCAGCTACATGCTGAGGTCTGACTAGGAAAATAAAGCACTCAGGGGTTATGGTACCCCACCAAGCACAAAGGCCACTGAAGTGCCTGGTCCCATTACCTGCTCTTTCTTTCCTTTCTGCGCTTGCTTGGCAAATAAAAGCCAGCAGTCTGAGAGGCCTTCCTGCCGGTTACTCCTGCCTTTGTTTGCAGGCCGTGCCTGGCTGTACCTGGCCCTCAACGAGAACTCCTTGGAGAGCTACCTGCGGTTGTTCCAGGAGAACCTGGGCCTGCTGCATAAGTACTACGTCAAGTGAGTGTCTGGGACGGTCTGTCTCCCCTAGCCTCAGAGCTCCCTTTCAGCTACCTCCCAAAGGCTCTTGTCATGCAGACAGCACAGTGTGCCACATCAGTGATGCCAGAGAGCCATTAGAACCTTGCCAGTAGCTGGGTAGCCTTCACCAGGAGCACCGGTGTCCCATCTGGGCTCCTGGGTACAGTCTGGGTCTCTGCTGCTCCCTGGTCCTCCTCCCAGGCTTCAGACCTGACCAGTGCCCATGCTTTGGCTCAGCCTTTGCTGGGGTTGCTGCAGGAACA
|
CCACCCGCCTTGGCTTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCCTGTTTTGGTTTTTTAATTAGAACATTGCACTAGATCTCTAAGGATGCTTCCAGCTGTAACATCTGTCTATAGGCTCTCTGATCTCAGATTTACTCAGATTTTGAAATTAAAAAAAAAAAAAAAAAAAAAGCTCTACCCCAGTGTGGTCGTACTTAATACTGAAGTGTGCAGTAATGTTTCCAGCTGTTGCTGAGAGGGATTATGCAGTTTTTGCAGGCTTATTCCTCTTTCTTTCAGCTCTAGAAATCTTTCCTTCTGGTGCTCTGATTTGCCTGCCTCTGGGAGGAAGGGAAGGGAAGACCCTGCAGGACTGAGGTTTGTCCTGGCTGACAGGCCTGCCAGGCTTGTTCCGGGCTGCAGAGAAGAGAGGCTATTTTTGTTGTGGGAGCTGAATTGTTGGTCTCTCTCCAGGAGCACATGCTTGTTGGTGTGGTTGATGTATCTTGCCTGCTGTGGCCATCTCTACCACTGCTTCCAGAAAACACTTGAGAATACGTTTGTCCCAAGAGGTTAAACCTGAGATCAGGATCAGGCATCTGTGCTCTTGTCTTGTGTTCCACTCCCTTCTGGCCATTGGAAGGGCAGTAGCAGAACAGGATATGGCTAACATGAACTTGGAGAGACTTTTCTCCTAGAGCTGTGCTTGAAAGGGGCCCTCTCTCTGTAACTGCGGTTGCAGTGAACTCAGTCCAATATCTGGGCTTTCTTGTCCTTCAGTAGGCTGATGGAGCTGCCCTTGCCCTCACCAGCCTGGTGGGGTTTGCACAGTGCTGCAGTTCATCTCACCTACTGTCCAAATCTCCTTTTATCAGCCCAGTCCAGGAACAGTGGTGTCCTTCTTGGTGTAGGGCTTAACGTGAGCCTTGCATGCACCTAGATCCATATCCAGCATTGCAGGCAATTCTAGTATTCCATGTCAAGAAGGCTGGCAAGAAGGCTGGTGGGGCAGGTGCCCCAGTCCATCGGCCCTTAGTATATGCAGAGGGTAGCTCCAAGTGGGGCCACTGTGATATGAAGGAGGATTGTTTGAATTCAGGAGATTGAGGCTGCAGCGAGCCGTGATCACACCACTGCACTCCAGCCTGCATGACAGAGTGAGACCCTGTCTCAAAACAAACAGGCCGGGCACAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCGAAACCTCGTCTCTACTAAAGATAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCATGCCACTGCCCTCCAGCCTGGGCGACAGAACAAGACTTTGTCTCAATAAAACAAACAACCAAAAAGAAAAGAAAAAAGATACTTTTCTAATATATGACTGGGAAAAATGGGAAACTATAAAGGAAAAGATGGACAGATTTGACTGCCTAAAAATTAAAACTTTCTCAATAGGGCAAAACAATAACATAAGCAAAGTTTAAAGGTCTGTTGACAATGGGAGGAAAATACGTCTAGCGCTCTCTGTATCAATGCCCCAACTCTGGGTTTGTGTGGCATTGGTCTAGACAGCACTGTACATAGTGCCCCTGAAGTTGTGCCATGCTGTGGCCCTGGCCTGAAGCTTGCCACCACTTGAGACCTATGCATGGACAGTGGATCCCTCCAGCCTCAAGTTGTCACTGTGCGGACTGCTGACTGGGTGCCTCTGGGGGACTGGGCTGTAAAGATACAGCTGTTGCCTGCTGGAACCTCCAGTGCCAGAGCAGCAGCTGGGACAGGGGTGGTTTGAGGTAGACGTCTCTGCTGGTCATTGTGGATACACCATTTGACTAATTTTTTTTAGCTACCTTCTTGATTCCAGAACTTTTGTAGCCTTCCTCTTAATCCATTTCTGATTTGGAGGTGTTTTTTTTTTTTCAGTTGCAGAGCTATTTTGCTGCATGTGAGGATGAGATCCCTGCCATCCGGAACCATGACAAGGTCCTACAGCGTCTGTGTGAGCACCTGGACCACGCCCTGCTGTACGGGTAAGGTGGAGGAAGTTTCCAAAGATGACGGAGCACAACCCAGGCCATGAGTAGCCTCCACAGAGAAACCCTTAGCCTCTCTGCCTTTTCTTTCTTCTCTCCCCTTGGCAGAAAGGGATTTGTCCCACTCAAGTGGGCCACAGTCTCTCTGTAGTTACCCCAGTAAATCATCTCTGGGCAGACATAAATGATGGAGGGAGGATTTGCCACAAATGATATGATGGTGTGAAGGTGTGCTGGGTGCCTGGGAGACCTGCTGGGGATCCATCACTTCCTGCCTTGCGCTCACTGCTGGACCAGCCGACTGCAGCTTCCCAGGGTGGCCCCATGCAGGTCACAGCAGCTCCTGTCCTGTTTTCTCAGACTGCAAGACCTCTCCTCTGGCTACTGGGTGCTCGTGGTGCATTTTACTCGGAGAGAGGCCATCAAGCAGATCGAGGTGCTGCAGCACGTGGCCACCAACCTGGGGCGCAGTGAGTAGTCACAAGGAGACGCTGGGGAAGGGACCAGCTCCACCTTCGGTGGGTAGCTTGGGGCTCTGTCCCAGGTTTACCCTCAGGGTCAGCCCTGGGAGGCAAATTACCTGGTGGTGTCCAGTAGCAGTGGGGTGTTAAAATGCCAGCACCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGAGGGAGGATGGCTTGAGGCCAGGAGTTTAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCTACAAAAATTTAAATATTACATGGATGTCTTGGTACACACCTATAGTCCCAGCTACTCAGGGGCTGAGGTGGGAGGATGGCTTGAGCCCCGGAGTTTGAGGCTGCAGTGAGGCATGACCACAGCATTGCACTCCAGCCTGGAAGAAAGAGTGAGACCCCATCTCTAAAGATTTAGGAAAATGGCCGGGCACAGTGGCTCATGCCTGTAATTCCAACACTTTGGGAGGGTAAGGCAGGAGGATCCCTTGAGCCCAGGAATTTAAGGCTGTATTGAGCTGTGATCACACCACTATACTCCAGCCTGGGTGACAGAGTCTCTGTCTCAAAAAATAAAATAATAGTAATAAATAATAAATTTATAAAATGCCAGCCCCCTCCATGAGGCCTCTTTTCTCCCCACATATGATGGTTTTTTGGCACAGCAGTGATGGGGAGAAAGAGGGCGAGCTGCCAGCGAGAGCTGGACTCTTATGGAATCCCAGCCTGAGCACGTGCTATGGAGTCTGGTTTCTCTCCCTGAGCTGGGATCACTGTTAGCCTACAGGATCAGTGCAGAGTCCTGGCGTTTCTTGACCTGTCTGAAGTGTGCAGTCTGCCCTCTTTATCAGAATTTCCTGGCCAGCTACATGCTGAGGTCTGACTAGGAAAATAAAGCACTCAGGGGTTATGGTACCCCACCAAGCACAAAGGCCACTGAAGTGCCTGGTCCCATTACCTGCTCTTTCTTTCCTTTCTGCGCTTGCTTGGCAAATAAAAGCCAGCAGTCTGAGAGGCCTTCCTGCCGGTTACTCCTGCCTTTGTTTGCAGGCCGTGCCTGGCTGTACCTGGCCCTCAACGAGAACTCCTTGGAGAGCTACCTGCGGTTGTTCCAGGAGAACCTGGGCCTGCTGCATAAGTACTACGTCAAGTGAGTGTCTGGGACGGTCTGTCTCCCCTAGCCTCAGAGCTCCCTTTCAGCTACCTCCCAAAGGCTCTTGTCATGCAGACAGCACAGTGTGCCACATCAGTGATGCCAGAGAGCCATTAGAACCTTGCCAGTAGCTGGGTAGCCTTCACCAGGAGCACCGGTGTCCCATCTGGGCTCCTGGGTACAGTCTGGGTCTCTGCTGCTCCCTGGTCCTCCTCCCAGGCTTCAGACCTGACCAGTGCCCATGCTTTGGCTCAGCCTTTGCTGGGGTTGCTGCAGGAACAN
|
benign
| 3,541 |
For chromosome 1, position 15928646, gene SPEN (spen family transcriptional repressor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Neurodevelopmental_abnormality', 'Radio-Tartaglia_syndrome']
|
GTTGAGTGCTATGAGCCAAGTGCTGTTGTAAGAGCTAGAGAAATTTTGGCCAAGAAGACAAAGCCTGTGCCTTTATGGGGCTTAAGTTCTAGTGTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCGCCCAAGCTGGAGTGCAGCGGCACAATCTTGACTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTTCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCCTGCCACCATGCCCGCCTAATTTTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGTCCGGCCAAGTTCTAGTGTTCTTTCAGCGAGCTACTAATGGCAGTGTTACCTAGAATGAGCCAGGTGTATCTACATGAGAGAACAAACATTGCGGAGAATGAATGAGTGAAGGAAGTAATTGGTCTCTGTTACAGGTGTATTTAATTTCATATAATATATGTTCTTGTGTGTAAATTTAATCCTATTTTGAATGCACCAGACAGGTCCCTGTGGGAGAAAACCTGTGGTGAGTTCCTTAAAACTGGAGGAGTTCTCTCATGGTGCTTGCAGTCATCCCTGGTTTGTTAGTTGGCAGCCTGGGGGAAAGTGACAACATTTACTGAGGCCAAGTACCTGCCTAGGATTATGTAGGAAAGTTTTTACAGATATTATCTTAATCTTTTTAACAGCTTTATGAGGAAAAGCTGCCATTTTATGAGTGAGGAGACTGAGTTCAGAGAGTTTAACCAGGTTCCAGTATTTTTTAAAAATTGTGAATTAGATAGAAGTGTTACCAGTATCATACAGGTCATATAGATGGCAAAATTTTAGTTAAAATTTTTATCTGTTTTTCTAAACAGTGGATTTATTTCCCAAGTTGTAAGAATATCTTTTTATAGAATAGTAATTTTGTGGGAGACTTAGGTAGGAGTGTGGGGATATTGTCCAGTAACTAGTGTCTGCTTTGTCACAACGCCGGAGTTACCAGAAACATTAAAAAAGGGTTGAATCACCACTGCCCAATAGAAGCATAATGTAAGTTATATAAATTCTGTATATGTAATTTTAAATTTTCTAGTAGCCACATTAAAAAGACAAAGTGAAATTTTCTTTAATATATCTAAAACGTTGTTTCAACATATAATCAGTCTAAATTGTTGTTTTTCTATAAACTAGGTCTACAAAATTGGCTGTGTATTTTACACATCTCAATTTAGCTAGATTTCAAGTGCCTAGTAGCTACTTGAAGCTATAGTGGATAGCTACTACAAACTAATCATTTCACAAATGATTAAATAATGTCAAAAGATTTTTTAGAAGCAGGAATTTCTGATTTCATATGTATGATTTTATGCATAAGTGATGAGGAAACAAAAGAACTAATATCTTTGTTATTTTTTGGCAGAGAGGAACGAAGGGCATCCTACGACTATAACCAAGATCGTACATATTATGAGAGTGTTCGAACTCCAGGCACTTATCCTGAGGATTCCAGGCGGGACTATCCAGCTCGAGGGAGAGAGTTTTATTCAGAATGGGAAACTTACCAAGGAGACTACTATGAATCACGATACTACGATGATCCTCGGGAATACAGGGATTACAGGAATGATCCTTATGAACAAGATATTAGGGAATATAGTTACAGGCAAAGGGAACGAGAAAGAGAACGTGAAAGATTTGAGTCTGACCGGGACAGAGACCATGAGAGGAGGCCGATTGAACGAAGTCAAAGTCCTGTTCACTTGCGACGTCCACAGAGTCCTGGAGCGTCTCCCTCTCAGGCAGAGAGGTTGCCGAGTGATTCTGAGAGGAGGCTTTACAGCCGATCCTCAGACCGGAGTGGAAGCTGTAGCTCACTCTCCCCTCCAAGATATGAGAAACTGGACAAGTCTCGTTTGGAGCGCTATACAAAAAATGAAAAGACAGATAAAGAACGAACTTTTGATCCGGAGAGAGTGGAGAGAGAGAGACGCTTAATACGGAAGGAAAAAGTGGAAAAGGACAAAACTGACAAGCAGAAACGCAAAGGAAAGGTTCACTCCCCTAGTTCTCAGTCTTCAGAAACGGACCAAGAAAATGAGCGAGAGCAAAGCCCTGAAAAGCCCAGGAGTTGTAATAAACTGAGCAGAGAGAAAGCTGACAAAGAGGGAATAGCGAAAAACCGCCTGGAACTCATGCCTTGCGTGGTTTTGACTCGAGTGAAAGAGAAAGAGGGAAAGGTCATTGACCACACTCCTGTGGAAAAGTTGAAAGCCAAGCTTGATAATGACACTGTCAAATCTTCTGCCCTGGACCAGAAACTTCAGGTCTCTCAGACGGAGCCTGCAAAATCTGACTTGTCTAAACTGGAATCAGTTAGAATGAAAGTACCAAAGGAAAAGGGGCTTTCAAGCCATGTTGAAGTGGTGGAGAAGGAAGGCAGGCTTAAAGCCAGGAAGCACCTCAAGCCTGAGCAGCCTGCAGATGGGGTAAGTGCTGTGGATCTGGAGAAGCTGGAAGCCAGGAAAAGGCGCTTTGCAGATTCCAATTTAAAAGCAGAAAAGCAAAAACCAGAGGTCAAGAAAAGCAGTCCAGAGATGGAGGATGCTCGCGTGCTTTCAAAAAAGCAGCCTGACGTGTCCTCTAGAGAGGTCATTCTGCTGAGGGAAGGAGAGGCTGAAAGAAAGCCTGTGAGGAAAGAAATTCTTAAAAGAGAATCTAAAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAAGAAAAAATTGGCATTGACATCGATCACACGCAGAGTTACCGAAAACAAATGGAACAGAGTCGTAGGAAACAGCAGATGGAAATGGAAATAGCCAAGTCTGAGAAGTTTGGCAGTCCTAAAAAAGATGTAGATGAATATGAAAGACGTAGCCTCGTTCACGAGGTAGGCAAACCCCCTCAAGATGTCACTGATGACTCTCCTCCTAGCAAAAAGAAAAGGATGGATCATGTCGATTTTGATATCTGCACCAAGCGAGAACGGAATTACAGAAGTTCACGCCAAATCAGCGAAGATTCTGAAAGGACTGGTGGTTCTCCCAGTGTCCGACATGGTTCCTTCCATGAAGATGAGGATCCCATAGGCTCCCCTAGGCTACTGTCAGTAAAAGGGTCTCCTAAAGTAGATGAAAAAGTCCTCCCCTATTCTAACATAACAGTCAGGGAAGAGTCTTTAAAATTTAATCCTTATGATTCTAGCAGGAGAGAACAGATGGCAGATATGGCCAAAATAAAACTATCTGTCTTGAATTCTGAAGATGAACTAAATCGTTGGGACTCTCAGATGAAACAGGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACT
|
GTTGAGTGCTATGAGCCAAGTGCTGTTGTAAGAGCTAGAGAAATTTTGGCCAAGAAGACAAAGCCTGTGCCTTTATGGGGCTTAAGTTCTAGTGTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCGCCCAAGCTGGAGTGCAGCGGCACAATCTTGACTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTTCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCCTGCCACCATGCCCGCCTAATTTTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGTCCGGCCAAGTTCTAGTGTTCTTTCAGCGAGCTACTAATGGCAGTGTTACCTAGAATGAGCCAGGTGTATCTACATGAGAGAACAAACATTGCGGAGAATGAATGAGTGAAGGAAGTAATTGGTCTCTGTTACAGGTGTATTTAATTTCATATAATATATGTTCTTGTGTGTAAATTTAATCCTATTTTGAATGCACCAGACAGGTCCCTGTGGGAGAAAACCTGTGGTGAGTTCCTTAAAACTGGAGGAGTTCTCTCATGGTGCTTGCAGTCATCCCTGGTTTGTTAGTTGGCAGCCTGGGGGAAAGTGACAACATTTACTGAGGCCAAGTACCTGCCTAGGATTATGTAGGAAAGTTTTTACAGATATTATCTTAATCTTTTTAACAGCTTTATGAGGAAAAGCTGCCATTTTATGAGTGAGGAGACTGAGTTCAGAGAGTTTAACCAGGTTCCAGTATTTTTTAAAAATTGTGAATTAGATAGAAGTGTTACCAGTATCATACAGGTCATATAGATGGCAAAATTTTAGTTAAAATTTTTATCTGTTTTTCTAAACAGTGGATTTATTTCCCAAGTTGTAAGAATATCTTTTTATAGAATAGTAATTTTGTGGGAGACTTAGGTAGGAGTGTGGGGATATTGTCCAGTAACTAGTGTCTGCTTTGTCACAACGCCGGAGTTACCAGAAACATTAAAAAAGGGTTGAATCACCACTGCCCAATAGAAGCATAATGTAAGTTATATAAATTCTGTATATGTAATTTTAAATTTTCTAGTAGCCACATTAAAAAGACAAAGTGAAATTTTCTTTAATATATCTAAAACGTTGTTTCAACATATAATCAGTCTAAATTGTTGTTTTTCTATAAACTAGGTCTACAAAATTGGCTGTGTATTTTACACATCTCAATTTAGCTAGATTTCAAGTGCCTAGTAGCTACTTGAAGCTATAGTGGATAGCTACTACAAACTAATCATTTCACAAATGATTAAATAATGTCAAAAGATTTTTTAGAAGCAGGAATTTCTGATTTCATATGTATGATTTTATGCATAAGTGATGAGGAAACAAAAGAACTAATATCTTTGTTATTTTTTGGCAGAGAGGAACGAAGGGCATCCTACGACTATAACCAAGATCGTACATATTATGAGAGTGTTCGAACTCCAGGCACTTATCCTGAGGATTCCAGGCGGGACTATCCAGCTCGAGGGAGAGAGTTTTATTCAGAATGGGAAACTTACCAAGGAGACTACTATGAATCACGATACTACGATGATCCTCGGGAATACAGGGATTACAGGAATGATCCTTATGAACAAGATATTAGGGAATATAGTTACAGGCAAAGGGAACGAGAAAGAGAACGTGAAAGATTTGAGTCTGACCGGGACAGAGACCATGAGAGGAGGCCGATTGAACGAAGTCAAAGTCCTGTTCACTTGCGACGTCCACAGAGTCCTGGAGCGTCTCCCTCTCAGGCAGAGAGGTTGCCGAGTGATTCTGAGAGGAGGCTTTACAGCCGATCCTCAGACCGGAGTGGAAGCTGTAGCTCACTCTCCCCTCCAAGATATGAGAAACTGGACAAGTCTCGTTTGGAGCGCTATACAAAAAATGAAAAGACAGATAAAGAACGAACTTTTGATCCGGAGAGAGTGGAGAGAGAGAGAGACGCTTAATACGGAAGGAAAAAGTGGAAAAGGACAAAACTGACAAGCAGAAACGCAAAGGAAAGGTTCACTCCCCTAGTTCTCAGTCTTCAGAAACGGACCAAGAAAATGAGCGAGAGCAAAGCCCTGAAAAGCCCAGGAGTTGTAATAAACTGAGCAGAGAGAAAGCTGACAAAGAGGGAATAGCGAAAAACCGCCTGGAACTCATGCCTTGCGTGGTTTTGACTCGAGTGAAAGAGAAAGAGGGAAAGGTCATTGACCACACTCCTGTGGAAAAGTTGAAAGCCAAGCTTGATAATGACACTGTCAAATCTTCTGCCCTGGACCAGAAACTTCAGGTCTCTCAGACGGAGCCTGCAAAATCTGACTTGTCTAAACTGGAATCAGTTAGAATGAAAGTACCAAAGGAAAAGGGGCTTTCAAGCCATGTTGAAGTGGTGGAGAAGGAAGGCAGGCTTAAAGCCAGGAAGCACCTCAAGCCTGAGCAGCCTGCAGATGGGGTAAGTGCTGTGGATCTGGAGAAGCTGGAAGCCAGGAAAAGGCGCTTTGCAGATTCCAATTTAAAAGCAGAAAAGCAAAAACCAGAGGTCAAGAAAAGCAGTCCAGAGATGGAGGATGCTCGCGTGCTTTCAAAAAAGCAGCCTGACGTGTCCTCTAGAGAGGTCATTCTGCTGAGGGAAGGAGAGGCTGAAAGAAAGCCTGTGAGGAAAGAAATTCTTAAAAGAGAATCTAAAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAAGAAAAAATTGGCATTGACATCGATCACACGCAGAGTTACCGAAAACAAATGGAACAGAGTCGTAGGAAACAGCAGATGGAAATGGAAATAGCCAAGTCTGAGAAGTTTGGCAGTCCTAAAAAAGATGTAGATGAATATGAAAGACGTAGCCTCGTTCACGAGGTAGGCAAACCCCCTCAAGATGTCACTGATGACTCTCCTCCTAGCAAAAAGAAAAGGATGGATCATGTCGATTTTGATATCTGCACCAAGCGAGAACGGAATTACAGAAGTTCACGCCAAATCAGCGAAGATTCTGAAAGGACTGGTGGTTCTCCCAGTGTCCGACATGGTTCCTTCCATGAAGATGAGGATCCCATAGGCTCCCCTAGGCTACTGTCAGTAAAAGGGTCTCCTAAAGTAGATGAAAAAGTCCTCCCCTATTCTAACATAACAGTCAGGGAAGAGTCTTTAAAATTTAATCCTTATGATTCTAGCAGGAGAGAACAGATGGCAGATATGGCCAAAATAAAACTATCTGTCTTGAATTCTGAAGATGAACTAAATCGTTGGGACTCTCAGATGAAACAGGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGA
|
pathogenic
| 3,595 |
Variant in gene SPEN (spen family transcriptional repressor), located at chromosome 1 position 15932326: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Encephalopathy', 'Radio-Tartaglia_syndrome']
|
GGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTG
|
GGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGACCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGNN
|
pathogenic
| 3,605 |
Determine whether the variant at chromosome 1, position 15932458, in gene SPEN (spen family transcriptional repressor) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Radio-Tartaglia_syndrome']
|
CCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCC
|
CCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCCNNNNN
|
pathogenic
| 3,606 |
Mutation found at chromosome 1 position 15932878, gene SPEN (spen family transcriptional repressor): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Inborn_genetic_diseases']
|
TTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCCACAACAGGCACGGTGACAATGGCAGGGGCAGTGATTGCGCCGTCAACAAAGTGCAAACAGAGAGCGAGTGCTAATGAAAACAGTCGGTTCCACCCAGGGTCCATGCCTGTGATCGACGATCGTCCGGCAGACGCGGGCTCAGGGGCGGGGCTGCGTGTGAACACTTCTGAAGGGGTTGTGCTCCTGAGTTACTCAGGGCAGAAGACCGAAGGCCCACAGCGGATCAGCGCCAAGATCAGCCAGATCCCCCCGGCCAGTGCAATGGACATTGAATTTCAGCAGTCAGTGTCCAAGTCCCAGGTCAAACCTGATTCTGTCACAGCATCGCAGCCTCCATCCAAAGGCCCTCAAGCTCCTGCAGGCTATGCGAACGTGGCCACCCATTCCACGTTGGTACTGACCGCCCAGACATATAATGCC
|
TTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCCACAACAGGCACGGTGACAATGGCAGGGGCAGTGATTGCGCCGTCAACAAAGTGCAAACAGAGAGCGAGTGCTAATGAAAACAGTCGGTTCCACCCAGGGTCCATGCCTGTGATCGACGATCGTCCGGCAGACGCGGGCTCAGGGGCGGGGCTGCGTGTGAACACTTCTGAAGGGGTTGTGCTCCTGAGTTACTCAGGGCAGAAGACCGAAGGCCCACAGCGGATCAGCGCCAAGATCAGCCAGATCCCCCCGGCCAGTGCAATGGACATTGAATTTCAGCAGTCAGTGTCCAAGTCCCAGGTCAAACCTGATTCTGTCACAGCATCGCAGCCTCCATCCAAAGGCCCTCAAGCTCCTGCAGGCTATGCGAACGTGGCCACCCATTCCACGTTGGTACTGACCGCCCAGACATATAATGCCNN
|
pathogenic
| 3,607 |
Is the chromosome 1, position 15933213 variant in SPEN (spen family transcriptional repressor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Inborn_genetic_diseases', 'Radio-Tartaglia_syndrome']
|
TCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCCACAACAGGCACGGTGACAATGGCAGGGGCAGTGATTGCGCCGTCAACAAAGTGCAAACAGAGAGCGAGTGCTAATGAAAACAGTCGGTTCCACCCAGGGTCCATGCCTGTGATCGACGATCGTCCGGCAGACGCGGGCTCAGGGGCGGGGCTGCGTGTGAACACTTCTGAAGGGGTTGTGCTCCTGAGTTACTCAGGGCAGAAGACCGAAGGCCCACAGCGGATCAGCGCCAAGATCAGCCAGATCCCCCCGGCCAGTGCAATGGACATTGAATTTCAGCAGTCAGTGTCCAAGTCCCAGGTCAAACCTGATTCTGTCACAGCATCGCAGCCTCCATCCAAAGGCCCTCAAGCTCCTGCAGGCTATGCGAACGTGGCCACCCATTCCACGTTGGTACTGACCGCCCAGACATATAATGCCTCTCCTGTGATTTCGTCTGTGAAGGCCGATAGGCCATCCTTGGAGAAGCCCGAGCCCATTCACCTCTCGGTGTCCACGCCTGTCACCCAGGGAGGCACAGTGAAGGTTCTCACCCAGGGGATCAACACACCCCCTGTGCTGGTTCACAACCAGCTGGTCCTCACCCCAAGCATTGTCACCACAAACAAGAAGCTTGCTGACCCCGTCACCCTTAAAATCGAGACCAAGGTCCTTCAGCCGGCCAACCTGGGGTCCACGCTCACGCCCCACCACCCTCCTGCTCTGCCCAGCAAACTGCCTACAGAAGTCAACCATGTCCCCTCGGGGCCCAGCAT
|
TCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCCACAACAGGCACGGTGACAATGGCAGGGGCAGTGATTGCGCCGTCAACAAAGTGCAAACAGAGAGCGAGTGCTAATGAAAACAGTCGGTTCCACCCAGGGTCCATGCCTGTGATCGACGATCGTCCGGCAGACGCGGGCTCAGGGGCGGGGCTGCGTGTGAACACTTCTGAAGGGGTTGTGCTCCTGAGTTACTCAGGGCAGAAGACCGAAGGCCCACAGCGGATCAGCGCCAAGATCAGCCAGATCCCCCCGGCCAGTGCAATGGACATTGAATTTCAGCAGTCAGTGTCCAAGTCCCAGGTCAAACCTGATTCTGTCACAGCATCGCAGCCTCCATCCAAAGGCCCTCAAGCTCCTGCAGGCTATGCGAACGTGGCCACCCATTCCACGTTGGTACTGACCGCCCAGACATATAATGCCTCTCCTGTGATTTCGTCTGTGAAGGCCGATAGGCCATCCTTGGAGAAGCCCGAGCCCATTCACCTCTCGGTGTCCACGCCTGTCACCCAGGGAGGCACAGTGAAGGTTCTCACCCAGGGGATCAACACACCCCCTGTGCTGGTTCACAACCAGCTGGTCCTCACCCCAAGCATTGTCACCACAAACAAGAAGCTTGCTGACCCCGTCACCCTTAAAATCGAGACCAAGGTCCTTCAGCCGGCCAACCTGGGGTCCACGCTCACGCCCCACCACCCTCCTGCTCTGCCCAGCAAACTGCCTACAGAAGTCAACCATGTCCCCTCGGGGCCCAGCATNN
|
pathogenic
| 3,609 |
Regarding the variant found on chromosome 1 at position 16044506 in gene CLCNKB (chloride voltage-gated channel Kb): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
|
GATGAAGGTGGGCTCGGGTTCATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGGGCTGGGTTCAGCCTCTGCTGTGTGACCTTGGATGAGTGACTCACCTCTCTGACCATCTACAAAATGGCGAGGCTCTCCCCATTCACAGGGTGTGGGGAGGAGGACTTGAGCTGCGGATGTGACGCTTCTGACACGTTGCAGGCACACGGCACGTGCTTGTTCCTCGCCATGTCCCCTCACACCTGTGCTGCCATCCTCTGTTGGGGTGGGACAAACTCTGTGGAATTACCCAGAAGTCCCCACCAGAGCCGCTGGCCCTTGGACGTGTGCTTTGAGAGGCATTTCCTGAGCCTGGAGGGTCTGGACACAGGATCAAGTCTGAGTTCCTGACCCCAATTCACTGCCTTGCCCCAGGTGTCGGCCTCCTCGCCAGCCCTGGACAAGATGGGTCATCAGGATGGGACCGTGTGGCACAGCCTGCGGGCTTTGGAGCCAGGCAAACCTGGGCTGGGAATCCTGGCGCTGCCTCGGCCTCCGTGATCTTAGACGGGCAGCCCCACCTCCCTGAGACACCATTTCTCTACAACGGGATCACGCTGCCTGCCTCGTGGGATTTCCGTGGGCACTCAGGGTAATTAATCTAGGGGAAGGCTGACTCTCTACCTGGCACACAGGGAGGCTGTGGTCATGCTGGCCCCACTCACCTTTGCCGGCCTGCTTTCTCCTTCTCTGCCCAGCCTCCTCCCCTCTCCCTCTGTGCTTTTCCAAACCTTCCATGTCCAGCTCTGAGACCCCTGGACCCTGAGCCTCAGCCTTGGCAGATGACCCCTCTCTGTCCTGCTGTGTGCGTGAGCTCCCCCTTCCCAGCCCCCGTCCAGCAGCACCCAGGAGCCTGAGTACAGCTGGGCACCACCCTCTGTGCAGCTATGGTGGGTGGGGAGGCTCCTGTTCCCCTCCCTGTTGGCAGCTCTGCTCTGCTCTGCTCCGGCCTGGGCAGTTCTGATCGGTTTTCAAGGACATTCTAAGTGTTCGCCATAAACCCTGGGCCCAGGCGGGAAAGGGGGGAGGATGTTGATTGTTGGAACACACACCTGTCCAGGTGCAGGGGAGCTGGAGGCTCTGTGAGAGGAGGGCCAGCTCAGCCACAGCAGGAGGACTGACAGGTGAGGGGTCGCTGCAAGATGCTGGGGCCTGCCAGGGCCAGACAGGCAGGGCGGGGGGGGGGGGGTGGTAAGGGCAGGAGCCAGCACCTCACTTTGGCCCTGGTGGGATCTTCTTCTGGGCCTGGGGTTTTGCTGCCTCTGTGGCCTGAGCTGGGGTCAGGGGTGCTCATAGGTGGACAGGGAGAGTCAGAGCCATCCATGGGACTCTGCAGTGAGAGTGTCACAGCCCTGGGCAGAGACTGCTCCCAGCAGTGGAAGCGCCAAGTGACCCAGGAGGGTGGGAGCGGCTGCCACCGAAGGGGAAGGGGCTCTGAGCAGGGCTTGGGCTCCGGCCTGTGCCCAGTCTGCTGCTGGACACAGGGGGACACCTAGGAATCCCACCCCCATCCCACACAATGACACACACAGGCACACACCCTCAGTGACGGAAACTCAGGGATGAAGGCACACACAGACCTAGTGTGATAACTTCACATACACACACACACACACACACACGCACAATCTTTCCTCTTCATGGGTGGGGAGAGCACTGGAAGGGCCTAGAGGCAGTGCGAGGACGTGCAGCAGCTCACCGCGGTCCCTCCCTCTATCCGCTTCTCCAGGGGCCTGATGGAGGAGTTTGTGGGGCTGCGTGAAGGCTCCTCAGGGAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAG
|
GATGAAGGTGGGCTCGGGTTCATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGGGCTGGGTTCAGCCTCTGCTGTGTGACCTTGGATGAGTGACTCACCTCTCTGACCATCTACAAAATGGCGAGGCTCTCCCCATTCACAGGGTGTGGGGAGGAGGACTTGAGCTGCGGATGTGACGCTTCTGACACGTTGCAGGCACACGGCACGTGCTTGTTCCTCGCCATGTCCCCTCACACCTGTGCTGCCATCCTCTGTTGGGGTGGGACAAACTCTGTGGAATTACCCAGAAGTCCCCACCAGAGCCGCTGGCCCTTGGACGTGTGCTTTGAGAGGCATTTCCTGAGCCTGGAGGGTCTGGACACAGGATCAAGTCTGAGTTCCTGACCCCAATTCACTGCCTTGCCCCAGGTGTCGGCCTCCTCGCCAGCCCTGGACAAGATGGGTCATCAGGATGGGACCGTGTGGCACAGCCTGCGGGCTTTGGAGCCAGGCAAACCTGGGCTGGGAATCCTGGCGCTGCCTCGGCCTCCGTGATCTTAGACGGGCAGCCCCACCTCCCTGAGACACCATTTCTCTACAACGGGATCACGCTGCCTGCCTCGTGGGATTTCCGTGGGCACTCAGGGTAATTAATCTAGGGGAAGGCTGACTCTCTACCTGGCACACAGGGAGGCTGTGGTCATGCTGGCCCCACTCACCTTTGCCGGCCTGCTTTCTCCTTCTCTGCCCAGCCTCCTCCCCTCTCCCTCTGTGCTTTTCCAAACCTTCCATGTCCAGCTCTGAGACCCCTGGACCCTGAGCCTCAGCCTTGGCAGATGACCCCTCTCTGTCCTGCTGTGTGCGTGAGCTCCCCCTTCCCAGCCCCCGTCCAGCAGCACCCAGGAGCCTGAGTACAGCTGGGCACCACCCTCTGTGCAGCTATGGTGGGTGGGGAGGCTCCTGTTCCCCTCCCTGTTGGCAGCTCTGCTCTGCTCTGCTCCGGCCTGGGCAGTTCTGATCGGTTTTCAAGGACATTCTAAGTGTTCGCCATAAACCCTGGGCCCAGGCGGGAAAGGGGGGAGGATGTTGATTGTTGGAACACACACCTGTCCAGGTGCAGGGGAGCTGGAGGCTCTGTGAGAGGAGGGCCAGCTCAGCCACAGCAGGAGGACTGACAGGTGAGGGGTCGCTGCAAGATGCTGGGGCCTGCCAGGGCCAGACAGGCAGGGCGGGGGGGGGGGGGTGGTAAGGGCAGGAGCCAGCACCTCACTTTGGCCCTGGTGGGATCTTCTTCTGGGCCTGGGGTTTTGCTGCCTCTGTGGCCTGAGCTGGGGTCAGGGGTGCTCATAGGTGGACAGGGAGAGTCAGAGCCATCCATGGGACTCTGCAGTGAGAGTGTCACAGCCCTGGGCAGAGACTGCTCCCAGCAGTGGAAGCGCCAAGTGACCCAGGAGGGTGGGAGCGGCTGCCACCGAAGGGGAAGGGGCTCTGAGCAGGGCTTGGGCTCCGGCCTGTGCCCAGTCTGCTGCTGGACACAGGGGGACACCTAGGAATCCCACCCCCATCCCACACAATGACACACACAGGCACACACCCTCAGTGACGGAAACTCAGGGATGAAGGCACACACAGACCTAGTGTGATAACTTCACATACACACACACACACACACACACGCACAATCTTTCCTCTTCATGGGTGGGGAGAGCACTGGAAGGGCCTAGAGGCAGTGCGAGGACGTGCAGCAGCTCACCGCGGTCCCTCCCTCTATCCGCTTCTCCAGGGGCCTGATGGAGGAGTTTGTGGGGGCTGCGTGAAGGCTCCTCAGGGAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACA
|
pathogenic
| 3,705 |
Mutation found at chromosome 1 position 16044527, gene CLCNKB (chloride voltage-gated channel Kb): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
|
ATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGGGCTGGGTTCAGCCTCTGCTGTGTGACCTTGGATGAGTGACTCACCTCTCTGACCATCTACAAAATGGCGAGGCTCTCCCCATTCACAGGGTGTGGGGAGGAGGACTTGAGCTGCGGATGTGACGCTTCTGACACGTTGCAGGCACACGGCACGTGCTTGTTCCTCGCCATGTCCCCTCACACCTGTGCTGCCATCCTCTGTTGGGGTGGGACAAACTCTGTGGAATTACCCAGAAGTCCCCACCAGAGCCGCTGGCCCTTGGACGTGTGCTTTGAGAGGCATTTCCTGAGCCTGGAGGGTCTGGACACAGGATCAAGTCTGAGTTCCTGACCCCAATTCACTGCCTTGCCCCAGGTGTCGGCCTCCTCGCCAGCCCTGGACAAGATGGGTCATCAGGATGGGACCGTGTGGCACAGCCTGCGGGCTTTGGAGCCAGGCAAACCTGGGCTGGGAATCCTGGCGCTGCCTCGGCCTCCGTGATCTTAGACGGGCAGCCCCACCTCCCTGAGACACCATTTCTCTACAACGGGATCACGCTGCCTGCCTCGTGGGATTTCCGTGGGCACTCAGGGTAATTAATCTAGGGGAAGGCTGACTCTCTACCTGGCACACAGGGAGGCTGTGGTCATGCTGGCCCCACTCACCTTTGCCGGCCTGCTTTCTCCTTCTCTGCCCAGCCTCCTCCCCTCTCCCTCTGTGCTTTTCCAAACCTTCCATGTCCAGCTCTGAGACCCCTGGACCCTGAGCCTCAGCCTTGGCAGATGACCCCTCTCTGTCCTGCTGTGTGCGTGAGCTCCCCCTTCCCAGCCCCCGTCCAGCAGCACCCAGGAGCCTGAGTACAGCTGGGCACCACCCTCTGTGCAGCTATGGTGGGTGGGGAGGCTCCTGTTCCCCTCCCTGTTGGCAGCTCTGCTCTGCTCTGCTCCGGCCTGGGCAGTTCTGATCGGTTTTCAAGGACATTCTAAGTGTTCGCCATAAACCCTGGGCCCAGGCGGGAAAGGGGGGAGGATGTTGATTGTTGGAACACACACCTGTCCAGGTGCAGGGGAGCTGGAGGCTCTGTGAGAGGAGGGCCAGCTCAGCCACAGCAGGAGGACTGACAGGTGAGGGGTCGCTGCAAGATGCTGGGGCCTGCCAGGGCCAGACAGGCAGGGCGGGGGGGGGGGGGTGGTAAGGGCAGGAGCCAGCACCTCACTTTGGCCCTGGTGGGATCTTCTTCTGGGCCTGGGGTTTTGCTGCCTCTGTGGCCTGAGCTGGGGTCAGGGGTGCTCATAGGTGGACAGGGAGAGTCAGAGCCATCCATGGGACTCTGCAGTGAGAGTGTCACAGCCCTGGGCAGAGACTGCTCCCAGCAGTGGAAGCGCCAAGTGACCCAGGAGGGTGGGAGCGGCTGCCACCGAAGGGGAAGGGGCTCTGAGCAGGGCTTGGGCTCCGGCCTGTGCCCAGTCTGCTGCTGGACACAGGGGGACACCTAGGAATCCCACCCCCATCCCACACAATGACACACACAGGCACACACCCTCAGTGACGGAAACTCAGGGATGAAGGCACACACAGACCTAGTGTGATAACTTCACATACACACACACACACACACACACGCACAATCTTTCCTCTTCATGGGTGGGGAGAGCACTGGAAGGGCCTAGAGGCAGTGCGAGGACGTGCAGCAGCTCACCGCGGTCCCTCCCTCTATCCGCTTCTCCAGGGGCCTGATGGAGGAGTTTGTGGGGCTGCGTGAAGGCTCCTCAGGGAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCT
|
ATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGGGCTGGGTTCAGCCTCTGCTGTGTGACCTTGGATGAGTGACTCACCTCTCTGACCATCTACAAAATGGCGAGGCTCTCCCCATTCACAGGGTGTGGGGAGGAGGACTTGAGCTGCGGATGTGACGCTTCTGACACGTTGCAGGCACACGGCACGTGCTTGTTCCTCGCCATGTCCCCTCACACCTGTGCTGCCATCCTCTGTTGGGGTGGGACAAACTCTGTGGAATTACCCAGAAGTCCCCACCAGAGCCGCTGGCCCTTGGACGTGTGCTTTGAGAGGCATTTCCTGAGCCTGGAGGGTCTGGACACAGGATCAAGTCTGAGTTCCTGACCCCAATTCACTGCCTTGCCCCAGGTGTCGGCCTCCTCGCCAGCCCTGGACAAGATGGGTCATCAGGATGGGACCGTGTGGCACAGCCTGCGGGCTTTGGAGCCAGGCAAACCTGGGCTGGGAATCCTGGCGCTGCCTCGGCCTCCGTGATCTTAGACGGGCAGCCCCACCTCCCTGAGACACCATTTCTCTACAACGGGATCACGCTGCCTGCCTCGTGGGATTTCCGTGGGCACTCAGGGTAATTAATCTAGGGGAAGGCTGACTCTCTACCTGGCACACAGGGAGGCTGTGGTCATGCTGGCCCCACTCACCTTTGCCGGCCTGCTTTCTCCTTCTCTGCCCAGCCTCCTCCCCTCTCCCTCTGTGCTTTTCCAAACCTTCCATGTCCAGCTCTGAGACCCCTGGACCCTGAGCCTCAGCCTTGGCAGATGACCCCTCTCTGTCCTGCTGTGTGCGTGAGCTCCCCCTTCCCAGCCCCCGTCCAGCAGCACCCAGGAGCCTGAGTACAGCTGGGCACCACCCTCTGTGCAGCTATGGTGGGTGGGGAGGCTCCTGTTCCCCTCCCTGTTGGCAGCTCTGCTCTGCTCTGCTCCGGCCTGGGCAGTTCTGATCGGTTTTCAAGGACATTCTAAGTGTTCGCCATAAACCCTGGGCCCAGGCGGGAAAGGGGGGAGGATGTTGATTGTTGGAACACACACCTGTCCAGGTGCAGGGGAGCTGGAGGCTCTGTGAGAGGAGGGCCAGCTCAGCCACAGCAGGAGGACTGACAGGTGAGGGGTCGCTGCAAGATGCTGGGGCCTGCCAGGGCCAGACAGGCAGGGCGGGGGGGGGGGGGTGGTAAGGGCAGGAGCCAGCACCTCACTTTGGCCCTGGTGGGATCTTCTTCTGGGCCTGGGGTTTTGCTGCCTCTGTGGCCTGAGCTGGGGTCAGGGGTGCTCATAGGTGGACAGGGAGAGTCAGAGCCATCCATGGGACTCTGCAGTGAGAGTGTCACAGCCCTGGGCAGAGACTGCTCCCAGCAGTGGAAGCGCCAAGTGACCCAGGAGGGTGGGAGCGGCTGCCACCGAAGGGGAAGGGGCTCTGAGCAGGGCTTGGGCTCCGGCCTGTGCCCAGTCTGCTGCTGGACACAGGGGGACACCTAGGAATCCCACCCCCATCCCACACAATGACACACACAGGCACACACCCTCAGTGACGGAAACTCAGGGATGAAGGCACACACAGACCTAGTGTGATAACTTCACATACACACACACACACACACACACGCACAATCTTTCCTCTTCATGGGTGGGGAGAGCACTGGAAGGGCCTAGAGGCAGTGCGAGGACGTGCAGCAGCTCACCGCGGTCCCTCCCTCTATCCGCTTCTCCAGGGGCCTGATGGAGGAGTTTGTGGGGCTGCGTGAAGGCTCCTCGGGAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTN
|
pathogenic
| 3,706 |
The mutation impacting CLCNKB on chromosome 1 at position 16047920: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic
|
GTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACC
|
GTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCN
|
pathogenic
| 3,726 |
Considering the variant on chromosome 1, location 16048568, involving gene CLCNKB, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
CCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAG
|
CCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGGCGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAG
|
benign
| 3,738 |
The mutation in gene CLCNKB at chromosome 1, position 16049743—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATC
|
GGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCN
|
benign
| 3,759 |
Gene CLCNKB variant at chromosome position 16049884 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Bartter_disease_type_3', 'Hematuria', 'Proteinuria']
|
CACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGA
|
CACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCA
|
pathogenic
| 3,763 |
Is the variant located on chromosome 1 at position 16051800, gene CLCNKB, benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
|
GGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGA
|
GGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGAN
|
pathogenic
| 3,795 |
Gene CLCNKB variant at chromosome position 16052263 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
|
TGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTC
|
TGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCN
|
pathogenic
| 3,802 |
Evaluate the clinical significance of the mutation at chromosome 1, position 16053707 in gene CLCNKB: benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
|
CTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCAGCCCATGTGTCCCCCTGTGCAAGTGAGACAAGCTGCACACCTGGCAAGCACACCACAGCTGGATTTTGGTCTCCACTTGCACTTTGGGCAGGCACCTTGTGCAGTGAGCAACCTGTACAACCATATGGGTCACCCCTATGCCCACCCCAAGAGGGATAAGGCCATTTATGAGCTAAAGAACTGTGAGTATACCACTTAAGCTCTATGTACTGCATTTTCATCATCTTGAAAGTAGGGATCAAGAGAGTATAGGATTGCCAGACGTTCTCACTCCAAATGCTAGGCCCTTCTTTCCCCCACTAACTGGAAGACCGTTAGCATTATGCTGTGGAATATGCCAAATATCTCATCTGAAAATGTTTGCATTCGGATGACCCCACCAAGAGCCTTCACTTCCTGGATCAAAGAAAGAACTAGCCTCAAAGACAAAGACAAAGTCCTCTTTTACCCTCAGAGCCACAGCAAAGTGCTCCAACCAACACAGGCCCAGGCTGTGGGACCCCACTGCTCACCCAAGAAATAGCCTTCAGTGTTCATTTAAAAGGGAAGGGGGACATTTATATGTCTAGGTGTCAAGTTTTTATTCCACTCAACAGAAAGCAAAAACACCAAGCTGGGCCCTCAAAACTAAATATCCGACAATGCCATTGATGCCCCAGGGCCAGAGTGAAGTTGCCAAGGCCCCAGCACACAGTAGGACCTCAGAACACAGTGTCCTCCTGGGTTCACACCTTCACTGTGCTGCGCCAAATGTGAAGCCTCTTGGGAAATGAAGGAGAAAGCCCAGCCCTGACACACAGACTTCATCGTGCTGGCGTCCCTAGCTTGCTCCTGTCTTGAGGCCTTGCAATGTGGGGGATCTCAGTGGTGGCCAGGGTCCCTCCTGGCTCCCTGGCAGCCTCACTCAGCCATCCTCAGCTACCACACCTGAATGACCTTGGGCAAGACAATTAGCCTCTCTGTGCCTCTGAGCCAAAGTTTCCTGTCCTTTATAATGGGTGACAATAGTCACAATAGCCCCATAGGAACACCAGAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTTGCCAGAGTCCCAGATCCTGGTGGGCATAGTGCGAAGGGCCCAGCTGGTGCAGGCCCTGAAGGCTGAGCCTCCTTCCTGGGCTCCTGGACACCAGGTGGGTACTCCTGAGGGGCATGGGGATGGGGCGGGGGTGGGTCAGCAGGAATGGGAGGAGAGGGGCCCGCTGATATCCTGAGGGAGAGGTGGTCAGAGAGAGGCATCCTGGGGAGGCCAGCCCTGCACCTGTAACCCTTCCCCACCCCCAGCAGTGTCTCCAGGACATCTTGGCTGCAGGCTGCCCCACAGAACCAGTGACCCTGAAGCTGTCCCCAGAGACTTCCCTGCA
|
CTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCAGCCCATGTGTCCCCCTGTGCAAGTGAGACAAGCTGCACACCTGGCAAGCACACCACAGCTGGATTTTGGTCTCCACTTGCACTTTGGGCAGGCACCTTGTGCAGTGAGCAACCTGTACAACCATATGGGTCACCCCTATGCCCACCCCAAGAGGGATAAGGCCATTTATGAGCTAAAGAACTGTGAGTATACCACTTAAGCTCTATGTACTGCATTTTCATCATCTTGAAAGTAGGGATCAAGAGAGTATAGGATTGCCAGACGTTCTCACTCCAAATGCTAGGCCCTTCTTTCCCCCACTAACTGGAAGACCGTTAGCATTATGCTGTGGAATATGCCAAATATCTCATCTGAAAATGTTTGCATTCGGATGACCCCACCAAGAGCCTTCACTTCCTGGATCAAAGAAAGAACTAGCCTCAAAGACAAAGACAAAGTCCTCTTTTACCCTCAGAGCCACAGCAAAGTGCTCCAACCAACACAGGCCCAGGCTGTGGGACCCCACTGCTCACCCAAGAAATAGCCTTCAGTGTTCATTTAAAAGGGAAGGGGGACATTTATATGTCTAGGTGTCAAGTTTTTATTCCACTCAACAGAAAGCAAAAACACCAAGCTGGGCCCTCAAAACTAAATATCCGACAATGCCATTGATGCCCCAGGGCCAGAGTGAAGTTGCCAAGGCCCCAGCACACAGTAGGACCTCAGAACACAGTGTCCTCCTGGGTTCACACCTTCACTGTGCTGCGCCAAATGTGAAGCCTCTTGGGAAATGAAGGAGAAAGCCCAGCCCTGACACACAGACTTCATCGTGCTGGCGTCCCTAGCTTGCTCCTGTCTTGAGGCCTTGCAATGTGGGGGATCTCAGTGGTGGCCAGGGTCCCTCCTGGCTCCCTGGCAGCCTCACTCAGCCATCCTCAGCTACCACACCTGAATGACCTTGGGCAAGACAATTAGCCTCTCTGTGCCTCTGAGCCAAAGTTTCCTGTCCTTTATAATGGGTGACAATAGTCACAATAGCCCCATAGGAACACCAGAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTTGCCAGAGTCCCAGATCCTGGTGGGCATAGTGCGAAGGGCCCAGCTGGTGCAGGCCCTGAAGGCTGAGCCTCCTTCCTGGGCTCCTGGACACCAGGTGGGTACTCCTGAGGGGCATGGGGATGGGGCGGGGGTGGGTCAGCAGGAATGGGAGGAGAGGGGCCCGCTGATATCCTGAGGGAGAGGTGGTCAGAGAGAGGCATCCTGGGGAGGCCAGCCCTGCACCTGTAACCCTTCCCCACCCCCAGCAGTGTCTCCAGGACATCTTGGCTGCAGGCTGCCCCACAGAACCAGTGACCCTGAAGCTGTCCCCAGAGACTTCCCTGCAN
|
pathogenic
| 3,824 |
Does the variant on chromosome 1 at location 16055723 affecting gene CLCNKB have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
|
CAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCAGCCCATGTGTCCCCCTGTGCAAGTGAGACAAGCTGCACACCTGGCAAGCACACCACAGCTGGATTTTGGTCTCCACTTGCACTTTGGGCAGGCACCTTGTGCAGTGAGCAACCTGTACAACCATATGGGTCACCCCTATGCCCACCCCAAGAGGGATAAGGCCATTTATGAGCTAAAGAACTGTGAGTATACCACTTAAGCTCTATGTACTGCATTTTCATCATCTTGAAAGTAGGGATCAAGAGAGTATAGGATTGCCAGACGTTCTCACTCCAAATGCTAGGCCCTTCTTTCCCCCACTAACTGGAAGACCGTTAGCATTATGCTGTGGAATATGCCAAATATCTCATCTGAAAATGTTTGCATTCGGATGACCCCACCAAGAGCCTTCACTTCCTGGATCAAAGAAAGAACTAGCCTCAAAGACAAAGACAAAGTCCTCTTTTACCCTCAGAGCCACAGCAAAGTGCTCCAACCAACACAGGCCCAGGCTGTGGGACCCCACTGCTCACCCAAGAAATAGCCTTCAGTGTTCATTTAAAAGGGAAGGGGGACATTTATATGTCTAGGTGTCAAGTTTTTATTCCACTCAACAGAAAGCAAAAACACCAAGCTGGGCCCTCAAAACTAAATATCCGACAATGCCATTGATGCCCCAGGGCCAGAGTGAAGTTGCCAAGGCCCCAGCACACAGTAGGACCTCAGAACACAGTGTCCTCCTGGGTTCACACCTTCACTGTGCTGCGCCAAATGTGAAGCCTCTTGGGAAATGAAGGAGAAAGCCCAGCCCTGACACACAGACTTCATCGTGCTGGCGTCCCTAGCTTGCTCCTGTCTTGAGGCCTTGCAATGTGGGGGATCTCAGTGGTGGCCAGGGTCCCTCCTGGCTCCCTGGCAGCCTCACTCAGCCATCCTCAGCTACCACACCTGAATGACCTTGGGCAAGACAATTAGCCTCTCTGTGCCTCTGAGCCAAAGTTTCCTGTCCTTTATAATGGGTGACAATAGTCACAATAGCCCCATAGGAACACCAGAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTTGCCAGAGTCCCAGATCCTGGTGGGCATAGTGCGAAGGGCCCAGCTGGTGCAGGCCCTGAAGGCTGAGCCTCCTTCCTGGGCTCCTGGACACCAGGTGGGTACTCCTGAGGGGCATGGGGATGGGGCGGGGGTGGGTCAGCAGGAATGGGAGGAGAGGGGCCCGCTGATATCCTGAGGGAGAGGTGGTCAGAGAGAGGCATCCTGGGGAGGCCAGCCCTGCACCTGTAACCCTTCCCCACCCCCAGCAGTGTCTCCAGGACATCTTGGCTGCAGGCTGCCCCACAGAACCAGTGACCCTGAAGCTGTCCCCAGAGACTTCCCTGCATGAGGTAACGGGGAGAACTGGGGAGTGTGACACATGAGGCCTCTGGGTGGGGGAAGAGCTGATGAGGAGCTCACGCTCCAGCCTCCCCTCCCAACCCCGCCCTGCCCGTCTTATGCTGCTTCCTGCTCCTCCTGGGCCAGTGTCCTCATCAGCAGACTGGGCAAAGAAGCTCCTGCCCTGTTGCCCCTCACTGCCAGGGTTGTGGGGATGATGCAGAGAGATGAGGGAAGTGGGAGAGTGGCAAATGTAAATCTCTGGGTGGAGAAAGACAGTGGAGTTGCACCAAGGCACACGTGCGCTTCAATTTCAGGTCCACCGCATTCTCCCTGTGTGATCTTGGACAAACGACTTAACCACTCAGGACAGAGCCTGGCACACGGGTTGGGGAGGGGCAGAGGCTGACAGGGGACCTGGAGATGGCCCCGCCCCCTCTGTGCTGCTGGAGGGTGCTGGATATTAGGTCCTGTTTACCTGCGGCCCCGCCCAGACCCTTGCATGGACTCTGGCATCCCCCAGTGGCCACATTGGACATTGCAGGCCTGGGTCTCTTGTCTCCCACACACATCAGGCCCCGCCCCTCTTCCTGGCTCAGAGGCGTGGTGGAGTGGGCTAGAGGGTGGGCTGGGCACCTTCTACCCTCCAGTGTTTCCTAACATCCCCCATCCAGGCACACAACCTCTTTGAGCTGTTGAACCTTCATTCCCTCTTTGTGACGTCGCGGGGCAGAGCTGTGGGCTGCGTGTCCTGGGTGGAGGTACCAGGGTCCCGGGGGCAGAGCAAAGCAGGGAACCTATGCCTGAGAAGACTGGGGAGGTGGGGAGGTGGGGTGGGGGGGACACCAGCATGCTCCCATCCAAACCTGGGGGGATTCAGAGGATACTGATGAGTCCCTCTTCTTGGCCCAGATTGGCCACTGGGCCTGGCTCCCCTACCTTGTTTTCTGGCCAGTGGCCAGCCTGCCCCTCTCGGCCTCAGTGATCCCATCTGTGCAATGGGGTGGCACAGGCTCTACTATTTACCCAGAAACCACCCTTAGGGGAACCAAAAATGCTGGAGCCCCCCTCACAACCTCCTCTACATCCCCCCGCACCTCCACCCCCTTTCTCTGTTCTAGATGAAGAAAGCAATTTCCAACCTGACAAATCCGCCAGCCCCAAAGTGAGCCGGCCCAGCAAGATGAAACAGGGCACCCCAGCTGACCTGGTACTGAGGTTGGGCTGAGACCCTGCTTCTCTTCCCCCATCACCACCTGCCCCTCCCTCCAGCCCAGCTCCATTCTTTGGCATAACAGGCAACTTTAACCTAGCCCAGAAGAGGATGGCTCATCCTGGGTGGGACGATGGCTCCTGCCTTGAAAGACAAAAATCCCACCTTGGGCAGAGCTGAGTGTGAGAAGATGGAAAACCAGTATCTGCCAGTTGCTCAGTGACTGGCCATCACATTAATGAATGATGAGATTGGAGTACACTGTCACCAAGGGCAGGCACAGATGCCTTCTGGGGTTGTCTGGTTCCCAGTGAGAGGCTCCTGAGAAAAATAAAGCTGGTTCCCAGAGCTGGTGTCCATCCCTCATCTCAGCTGCAAGGTTGCTGGTCTGGGACTGGAGCTCCTTACCTGCGCTGGCCCAGAGTGAGTTTCCCGTGGTCACGTGGGCACTGCAGGCTCGGGCCCCTGGGCTCCTCCTCATGCTCCATTTCTTGGCAGGGAGATGCCAGGGAGAGAGGGTCTCCCACCAGGTCTATGATGCTTGTCCTCATGGATAAGCAGGACCCTGTGTTGCTCAAGCCCTAGTCTCCTGCTTGGCTGGGCCACAGCTCATAAAGCCAGGACCCAAGTGTGGCTCCTTGGGGAGTCCACAGAGCCTTAGGCATCCTCCATGGGCCCTCTCTGGCTGGGTGGGAGCAGGTTGACCAGCTGTGTGAGCATTGGCAGTAGGGACCTTCCCTGACTCCCTCCGGACTCTGTCCAGGGGCCCAAGGTCACATCTTCCCCAGCAGAGACCAGGCCAAGGTCATC
|
CAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCAGCCCATGTGTCCCCCTGTGCAAGTGAGACAAGCTGCACACCTGGCAAGCACACCACAGCTGGATTTTGGTCTCCACTTGCACTTTGGGCAGGCACCTTGTGCAGTGAGCAACCTGTACAACCATATGGGTCACCCCTATGCCCACCCCAAGAGGGATAAGGCCATTTATGAGCTAAAGAACTGTGAGTATACCACTTAAGCTCTATGTACTGCATTTTCATCATCTTGAAAGTAGGGATCAAGAGAGTATAGGATTGCCAGACGTTCTCACTCCAAATGCTAGGCCCTTCTTTCCCCCACTAACTGGAAGACCGTTAGCATTATGCTGTGGAATATGCCAAATATCTCATCTGAAAATGTTTGCATTCGGATGACCCCACCAAGAGCCTTCACTTCCTGGATCAAAGAAAGAACTAGCCTCAAAGACAAAGACAAAGTCCTCTTTTACCCTCAGAGCCACAGCAAAGTGCTCCAACCAACACAGGCCCAGGCTGTGGGACCCCACTGCTCACCCAAGAAATAGCCTTCAGTGTTCATTTAAAAGGGAAGGGGGACATTTATATGTCTAGGTGTCAAGTTTTTATTCCACTCAACAGAAAGCAAAAACACCAAGCTGGGCCCTCAAAACTAAATATCCGACAATGCCATTGATGCCCCAGGGCCAGAGTGAAGTTGCCAAGGCCCCAGCACACAGTAGGACCTCAGAACACAGTGTCCTCCTGGGTTCACACCTTCACTGTGCTGCGCCAAATGTGAAGCCTCTTGGGAAATGAAGGAGAAAGCCCAGCCCTGACACACAGACTTCATCGTGCTGGCGTCCCTAGCTTGCTCCTGTCTTGAGGCCTTGCAATGTGGGGGATCTCAGTGGTGGCCAGGGTCCCTCCTGGCTCCCTGGCAGCCTCACTCAGCCATCCTCAGCTACCACACCTGAATGACCTTGGGCAAGACAATTAGCCTCTCTGTGCCTCTGAGCCAAAGTTTCCTGTCCTTTATAATGGGTGACAATAGTCACAATAGCCCCATAGGAACACCAGAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTTGCCAGAGTCCCAGATCCTGGTGGGCATAGTGCGAAGGGCCCAGCTGGTGCAGGCCCTGAAGGCTGAGCCTCCTTCCTGGGCTCCTGGACACCAGGTGGGTACTCCTGAGGGGCATGGGGATGGGGCGGGGGTGGGTCAGCAGGAATGGGAGGAGAGGGGCCCGCTGATATCCTGAGGGAGAGGTGGTCAGAGAGAGGCATCCTGGGGAGGCCAGCCCTGCACCTGTAACCCTTCCCCACCCCCAGCAGTGTCTCCAGGACATCTTGGCTGCAGGCTGCCCCACAGAACCAGTGACCTGAAGCTGTCCCCAGAGACTTCCCTGCATGAGGTAACGGGGAGAACTGGGGAGTGTGACACATGAGGCCTCTGGGTGGGGGAAGAGCTGATGAGGAGCTCACGCTCCAGCCTCCCCTCCCAACCCCGCCCTGCCCGTCTTATGCTGCTTCCTGCTCCTCCTGGGCCAGTGTCCTCATCAGCAGACTGGGCAAAGAAGCTCCTGCCCTGTTGCCCCTCACTGCCAGGGTTGTGGGGATGATGCAGAGAGATGAGGGAAGTGGGAGAGTGGCAAATGTAAATCTCTGGGTGGAGAAAGACAGTGGAGTTGCACCAAGGCACACGTGCGCTTCAATTTCAGGTCCACCGCATTCTCCCTGTGTGATCTTGGACAAACGACTTAACCACTCAGGACAGAGCCTGGCACACGGGTTGGGGAGGGGCAGAGGCTGACAGGGGACCTGGAGATGGCCCCGCCCCCTCTGTGCTGCTGGAGGGTGCTGGATATTAGGTCCTGTTTACCTGCGGCCCCGCCCAGACCCTTGCATGGACTCTGGCATCCCCCAGTGGCCACATTGGACATTGCAGGCCTGGGTCTCTTGTCTCCCACACACATCAGGCCCCGCCCCTCTTCCTGGCTCAGAGGCGTGGTGGAGTGGGCTAGAGGGTGGGCTGGGCACCTTCTACCCTCCAGTGTTTCCTAACATCCCCCATCCAGGCACACAACCTCTTTGAGCTGTTGAACCTTCATTCCCTCTTTGTGACGTCGCGGGGCAGAGCTGTGGGCTGCGTGTCCTGGGTGGAGGTACCAGGGTCCCGGGGGCAGAGCAAAGCAGGGAACCTATGCCTGAGAAGACTGGGGAGGTGGGGAGGTGGGGTGGGGGGGACACCAGCATGCTCCCATCCAAACCTGGGGGGATTCAGAGGATACTGATGAGTCCCTCTTCTTGGCCCAGATTGGCCACTGGGCCTGGCTCCCCTACCTTGTTTTCTGGCCAGTGGCCAGCCTGCCCCTCTCGGCCTCAGTGATCCCATCTGTGCAATGGGGTGGCACAGGCTCTACTATTTACCCAGAAACCACCCTTAGGGGAACCAAAAATGCTGGAGCCCCCCTCACAACCTCCTCTACATCCCCCCGCACCTCCACCCCCTTTCTCTGTTCTAGATGAAGAAAGCAATTTCCAACCTGACAAATCCGCCAGCCCCAAAGTGAGCCGGCCCAGCAAGATGAAACAGGGCACCCCAGCTGACCTGGTACTGAGGTTGGGCTGAGACCCTGCTTCTCTTCCCCCATCACCACCTGCCCCTCCCTCCAGCCCAGCTCCATTCTTTGGCATAACAGGCAACTTTAACCTAGCCCAGAAGAGGATGGCTCATCCTGGGTGGGACGATGGCTCCTGCCTTGAAAGACAAAAATCCCACCTTGGGCAGAGCTGAGTGTGAGAAGATGGAAAACCAGTATCTGCCAGTTGCTCAGTGACTGGCCATCACATTAATGAATGATGAGATTGGAGTACACTGTCACCAAGGGCAGGCACAGATGCCTTCTGGGGTTGTCTGGTTCCCAGTGAGAGGCTCCTGAGAAAAATAAAGCTGGTTCCCAGAGCTGGTGTCCATCCCTCATCTCAGCTGCAAGGTTGCTGGTCTGGGACTGGAGCTCCTTACCTGCGCTGGCCCAGAGTGAGTTTCCCGTGGTCACGTGGGCACTGCAGGCTCGGGCCCCTGGGCTCCTCCTCATGCTCCATTTCTTGGCAGGGAGATGCCAGGGAGAGAGGGTCTCCCACCAGGTCTATGATGCTTGTCCTCATGGATAAGCAGGACCCTGTGTTGCTCAAGCCCTAGTCTCCTGCTTGGCTGGGCCACAGCTCATAAAGCCAGGACCCAAGTGTGGCTCCTTGGGGAGTCCACAGAGCCTTAGGCATCCTCCATGGGCCCTCTCTGGCTGGGTGGGAGCAGGTTGACCAGCTGTGTGAGCATTGGCAGTAGGGACCTTCCCTGACTCCCTCCGGACTCTGTCCAGGGGCCCAAGGTCACATCTTCCCCAGCAGAGACCAGGCCAAGGTCATCN
|
pathogenic
| 3,839 |
Variant on chromosome 1, at position 16986749, affecting ATP13A2 (ATPase cation transporting 13A2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
GCTGGCTGGCAACACAGTGCCAGGAGCAGAGGTCCACTGTGATGTGCCTCCTGGCAGGACTTTCATCTTCACACCCACATCCCTTCTCCCCAGCATGATTCAACGTTTTCTCAGCCCCTACTCTGGCAGGCCTGGGGATAGCACCAGGGGTTCCAGGAATGAGGTTGGCCAGGGCTTTTGGAAGGCAGGAAACAGCCGGTCTTTCCTGTTCTCCCCTGCCCAGATGAGCCAGACGGCCAAGCTGCCTCTCTAGAGCAGAGGGGCTTGGCCAGGGGCCCGCTGGTGAGATGAGCTCAGAGGCACCCACCCTTCCCTGAGGGATGATGCGCGTGGTTCTGGCTGGGAGATGTGGGCTCCGAGCCTGGATTTCATCTGAGGAAGGAACTGCCCACAAACATGTCCCAGGATGCTGGGGTGGGACGGGGAGGGGGTAAGGTGGGAGAGAGGGAGCTGCCCCCTAGCAAATGCCTCCCAGGCAAGCCTACATCTCCTTGTCCTCCAAAGGAGGGTAGGAGGGTTAGGAACATCGAAGCTGGAGTCAAAGCTATCCGGCCCCACTCTGACTACTTGTGTAACCTCTAAGCCTTGGTTTCTTCATCTGTAAAATGGGAATAGTACCACAGTTGTTGGAAGGATGACATGACAATGTGTGTAAAATGCTAAATGGGGCCAAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACCCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGAAAAAAAAAAAAAAAAAAAAAAGCTAAACGGAATATCCAGGCACATGCTGGACACAGAGGAAACATTATTACTGTGAGATGAGGGAACACAGGCCCAGAGAGGGGAGTTGGCCAATGGAGTCTGAAAAACCAGGGGGTTCCAGGGGGTTGTCAGGCTGAAAAACCAGCCTGAAAAACCAGCCCCCCAGGGGGTTCCAGGGGCAGACACGTGCAGGGGCTGCCAGCTGGGCACCCGGGGGTATGTGCATTTCCTCCTGGGCAGGTGGGAGGGTCTATGGTGCCAGGTACAAGACAGGCACAGCAGAGCCAGGAAAATATCATGACTTTATTTGCTACACTGACAGCAGCACTGAGGGGAGCTGGGGGCTGCCACCCCTACGCGGGATGGTCCAAGGTAGGGGACAGTAGTCAACGCTTCCCCAGGGTGGGGGTGGTCTCGGGGGAGGAGTGTAGACAGTCGCCAACCTCAGGGATGTGGGAGGTGGTGGCGGTGGTGTTGCTGGAGAGGGGTCCAGTTGGTGGCTCAGAGGCAGGGAGTTCCAGTGTCTGGGGTGCCCGTGGGCCTGCACTACCTCAGGGGGCCGGCGGGCAGCGGCGGCCAGGGCTGCTCGGCCAGCTCTCGTTCCAGCTGCTTGAAGCGCTTCTTGGAGGCCCGCTTGGGCCGGAGGCGGCGCAGGCAGGCGGGGAGGCACTGGTCTAGCACGCTCTGCAAAGGGCAGGGAGGGTGTCAGGGGCAGCCGGGGCTGAGCTGGGGTCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTAGCCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGC
|
GCTGGCTGGCAACACAGTGCCAGGAGCAGAGGTCCACTGTGATGTGCCTCCTGGCAGGACTTTCATCTTCACACCCACATCCCTTCTCCCCAGCATGATTCAACGTTTTCTCAGCCCCTACTCTGGCAGGCCTGGGGATAGCACCAGGGGTTCCAGGAATGAGGTTGGCCAGGGCTTTTGGAAGGCAGGAAACAGCCGGTCTTTCCTGTTCTCCCCTGCCCAGATGAGCCAGACGGCCAAGCTGCCTCTCTAGAGCAGAGGGGCTTGGCCAGGGGCCCGCTGGTGAGATGAGCTCAGAGGCACCCACCCTTCCCTGAGGGATGATGCGCGTGGTTCTGGCTGGGAGATGTGGGCTCCGAGCCTGGATTTCATCTGAGGAAGGAACTGCCCACAAACATGTCCCAGGATGCTGGGGTGGGACGGGGAGGGGGTAAGGTGGGAGAGAGGGAGCTGCCCCCTAGCAAATGCCTCCCAGGCAAGCCTACATCTCCTTGTCCTCCAAAGGAGGGTAGGAGGGTTAGGAACATCGAAGCTGGAGTCAAAGCTATCCGGCCCCACTCTGACTACTTGTGTAACCTCTAAGCCTTGGTTTCTTCATCTGTAAAATGGGAATAGTACCACAGTTGTTGGAAGGATGACATGACAATGTGTGTAAAATGCTAAATGGGGCCAAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACCCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGAAAAAAAAAAAAAAAAAAAAAAGCTAAACGGAATATCCAGGCACATGCTGGACACAGAGGAAACATTATTACTGTGAGATGAGGGAACACAGGCCCAGAGAGGGGAGTTGGCCAATGGAGTCTGAAAAACCAGGGGGTTCCAGGGGGTTGTCAGGCTGAAAAACCAGCCTGAAAAACCAGCCCCCCAGGGGGTTCCAGGGGCAGACACGTGCAGGGGCTGCCAGCTGGGCACCCGGGGGTATGTGCATTTCCTCCTGGGCAGGTGGGAGGGTCTATGGTGCCAGGTACAAGACAGGCACAGCAGAGCCAGGAAAATATCATGACTTTATTTGCTACACTGACAGCAGCACTGAGGGGAGCTGGGGGCTGCCACCCCTACGCGGGATGGTCCAAGGTAGGGGACAGTAGTCAACGCTTCCCCAGGGTGGGGGTGGTCTCGGGGGAGGAGTGTAGACAGTCGCCAACCTCAGGGATGTGGGAGGTGGTGGCGGTGGTGTTGCTGGAGAGGGGTCCAGTTGGTGGCTCAGAGGCAGGGAGTTCCAGTGTCTGGGGTGCCCGTGGGCCTGCACTACCTCAGGGGGCCGGCGGGCAGCGGCGGCCAGGGCTGCTCGGCCAGCTCTCGTTCCAGCTGCTTGAAGCGCTTCTTGGAGGCCCGCTTGGGCCGGAGGCGGCGCAGGCAGGCGGGGAGGCACTGGTCTAGCACGCTCTGCAAAGGGCAGGGAGGGTGTCAGGGGCAGCCGGGGCTGAGCTGGGGTCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTAGCCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCNNNNNNNNNNNN
|
benign
| 3,957 |
Assess the variant on chromosome 1, position 16987071, impacting ATP13A2 (ATPase cation transporting 13A2): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Autosomal_recessive_spastic_paraplegia_type_78', 'Inborn_genetic_diseases', 'Kufor-Rakeb_syndrome', 'Neurodegeneration_with_brain_iron_accumulation']
|
GATGCGCGTGGTTCTGGCTGGGAGATGTGGGCTCCGAGCCTGGATTTCATCTGAGGAAGGAACTGCCCACAAACATGTCCCAGGATGCTGGGGTGGGACGGGGAGGGGGTAAGGTGGGAGAGAGGGAGCTGCCCCCTAGCAAATGCCTCCCAGGCAAGCCTACATCTCCTTGTCCTCCAAAGGAGGGTAGGAGGGTTAGGAACATCGAAGCTGGAGTCAAAGCTATCCGGCCCCACTCTGACTACTTGTGTAACCTCTAAGCCTTGGTTTCTTCATCTGTAAAATGGGAATAGTACCACAGTTGTTGGAAGGATGACATGACAATGTGTGTAAAATGCTAAATGGGGCCAAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACCCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGAAAAAAAAAAAAAAAAAAAAAAGCTAAACGGAATATCCAGGCACATGCTGGACACAGAGGAAACATTATTACTGTGAGATGAGGGAACACAGGCCCAGAGAGGGGAGTTGGCCAATGGAGTCTGAAAAACCAGGGGGTTCCAGGGGGTTGTCAGGCTGAAAAACCAGCCTGAAAAACCAGCCCCCCAGGGGGTTCCAGGGGCAGACACGTGCAGGGGCTGCCAGCTGGGCACCCGGGGGTATGTGCATTTCCTCCTGGGCAGGTGGGAGGGTCTATGGTGCCAGGTACAAGACAGGCACAGCAGAGCCAGGAAAATATCATGACTTTATTTGCTACACTGACAGCAGCACTGAGGGGAGCTGGGGGCTGCCACCCCTACGCGGGATGGTCCAAGGTAGGGGACAGTAGTCAACGCTTCCCCAGGGTGGGGGTGGTCTCGGGGGAGGAGTGTAGACAGTCGCCAACCTCAGGGATGTGGGAGGTGGTGGCGGTGGTGTTGCTGGAGAGGGGTCCAGTTGGTGGCTCAGAGGCAGGGAGTTCCAGTGTCTGGGGTGCCCGTGGGCCTGCACTACCTCAGGGGGCCGGCGGGCAGCGGCGGCCAGGGCTGCTCGGCCAGCTCTCGTTCCAGCTGCTTGAAGCGCTTCTTGGAGGCCCGCTTGGGCCGGAGGCGGCGCAGGCAGGCGGGGAGGCACTGGTCTAGCACGCTCTGCAAAGGGCAGGGAGGGTGTCAGGGGCAGCCGGGGCTGAGCTGGGGTCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTAGCCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATG
|
GATGCGCGTGGTTCTGGCTGGGAGATGTGGGCTCCGAGCCTGGATTTCATCTGAGGAAGGAACTGCCCACAAACATGTCCCAGGATGCTGGGGTGGGACGGGGAGGGGGTAAGGTGGGAGAGAGGGAGCTGCCCCCTAGCAAATGCCTCCCAGGCAAGCCTACATCTCCTTGTCCTCCAAAGGAGGGTAGGAGGGTTAGGAACATCGAAGCTGGAGTCAAAGCTATCCGGCCCCACTCTGACTACTTGTGTAACCTCTAAGCCTTGGTTTCTTCATCTGTAAAATGGGAATAGTACCACAGTTGTTGGAAGGATGACATGACAATGTGTGTAAAATGCTAAATGGGGCCAAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACCCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGAAAAAAAAAAAAAAAAAAAAAAGCTAAACGGAATATCCAGGCACATGCTGGACACAGAGGAAACATTATTACTGTGAGATGAGGGAACACAGGCCCAGAGAGGGGAGTTGGCCAATGGAGTCTGAAAAACCAGGGGGTTCCAGGGGGTTGTCAGGCTGAAAAACCAGCCTGAAAAACCAGCCCCCCAGGGGGTTCCAGGGGCAGACACGTGCAGGGGCTGCCAGCTGGGCACCCGGGGGTATGTGCATTTCCTCCTGGGCAGGTGGGAGGGTCTATGGTGCCAGGTACAAGACAGGCACAGCAGAGCCAGGAAAATATCATGACTTTATTTGCTACACTGACAGCAGCACTGAGGGGAGCTGGGGGCTGCCACCCCTACGCGGGATGGTCCAAGGTAGGGGACAGTAGTCAACGCTTCCCCAGGGTGGGGGTGGTCTCGGGGGAGGAGTGTAGACAGTCGCCAACCTCAGGGATGTGGGAGGTGGTGGCGGTGGTGTTGCTGGAGAGGGGTCCAGTTGGTGGCTCAGAGGCAGGGAGTTCCAGTGTCTGGGGTGCCCGTGGGCCTGCACTACCTCAGGGGGCCGGCGGGCAGCGGCGGCCAGGGCTGCTCGGCCAGCTCTCGTTCCAGCTGCTTGAAGCGCTTCTTGGAGGCCCGCTTGGGCCGGAGGCGGCGCAGGCAGGCGGGGAGGCACTGGTCTAGCACGCTCTGCAAAGGGCAGGGAGGGTGTCAGGGGCAGCCGGGGCTGAGCTGGGGTCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTACCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGN
|
pathogenic
| 3,967 |
A genetic alteration at chromosome 1, position 16992037, in gene ATP13A2 (ATPase cation transporting 13A2)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Autosomal_recessive_spastic_paraplegia_type_78', 'Neurodegeneration_with_brain_iron_accumulation']
|
AGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGAGCTCCACATATACTCCTTTTTTTTCTTTTTTTAAGACAAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCTTCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGAGGGTGCGACCACACCAGGCTAATTTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTCAGGTGATCCCCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCACGAGCCATGTGCCCAGGCTACATATACTCCTTACTGCTGTGTGACTCTGCTGCCAAGTGCCCATGAATGTGTGTGCACATATGTGTGTGTGCAGGGGCGGGGAGGACAAGGACACAGACCTCTTAGCTCCTGCTGTCTCACCCTAGCTAGAATCTTTTTTTTTTTGAGACTGGGTCTCTCTCTGTTGCCCAGGCTGGAGTGAAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCCACCACCATACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCGTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGTGCCCGGCCATTTTCGTATTCTTTGTAGAGACGGAGTTTTGCCATGTTGCCCAGGTTGGTCTTGAACTCCAGGGTTCAAGACATCCTTCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAGTACCGTGCCCGGCCAGAATCTTTCTCTTCCTGCTCCTTGAGCTTGTCACAGCCTCTGAGGCTGACATCATTATCCCCATTTCTCAGAGGTGCCACCTGGAACCCAGGCTGTCTGACAGCGCACATGGGTTCCTTGGAAGTCACTCCACTCCTCTGAGTCTCAGTTTCCTCATCTGTCAAACAGGGGTGACAATTACCACTTGCGGGGGGGATATTGTGAAGATTCACGAAATGTTTAAAAAGGACCTGGCCTGAAGCAAGGGCCCAAAAAGATGCCCCAAAAAGGAATCCCTGGTGCCCCTCTTCTCTGCCAGGAAGGGGCGGATTCTGCCCTGCTAGCCCGGGCCCCTACATGCCATTGTACCTGTCACCATGACGGCGCGGATGCGGGTCCTTCGCAGAGCCTGGATAACTGGCGTTGTCTGCGGCTTCAGTAGGTTCCTCATGACCAGCAGCCCCAGGAGGCTCAGGTCTCCTTCCACAGTGTCCCTGGAGGGTGGGCAGACCTGGATCAGAGGTCATGCAGTGGCCAGGGCCCCTCTCCCAGCCACCAGGCAGGGCATCTTCCTTGGGCTCTGCCTGCGTGAGAGCCTCCCTCTGCCTAGTCCTCAGAGTGGGTGGGACAGGAGACAGGCCCACCTCGTCAGTTGCTGGGCTGCCTCCAGGCTGGGCACAGTGGGCAGTGGCTTGCTGGCCAGGGCCACGACACGGTAGCCAGCAGCTGTATAGCTCTGCAGCATCTGGGCGAAGTCGGTGGGCACTGCCAGGGAGAGGCAGGTGTCACAAGGAGGGGATGGCAGGGACAGAGGCTGGGTACCCACCCCATTCTGTGCCAATGCCCAACCAGGGGGACTCAGGGGCTTCCCCCTGCACCTGTCTCGGGGTTGCAGAGCCCTGCCACCAGCTCCGGGGAGCCTTTGACGTAGGCCTCGGGCTGAGTGGCCCCTGGCCACGCCACCACCACACTCATGCGCTGCAGAGCCGAAGAGAAGGGGAAGCGGTGGAGGACGCTGACTGGCACCGGGGGCTCCTCCTGCAGGGTTGGAGAGGCAGCTGAGGTGCTGGCTGGGGAGCCCACCCCTCTGCCCTGCACCCAACAGGCCCCCCTCAGCTCACCATTGCCTGCAGCTGGGGCTCCCAAAGTGGGGGTCTCATCACTGCCAAGACCTGGGTCCCAAATGCTGAGTCTGCAGCCGGCTCTTCCTCCAGGACCTGGCAGGCAGGCAGGGAAGTTTGGTGTCTGGGGGCTTTGGCTCACAGAGAGATTTGAGCTAGACTCAGGGAAGACTTCCTTCATGGGAGACTGAATGGTGGGTTAAGAATGTGGGCTTTGGAGCCCGGTGGACTCAAATTCAAACTCTAGCTTTGCTACTTACAAGCTGTTGGGTGACCTGGAATACGTCACTCCAAATCTCCCAGCCTCAGCATCCGTGAAGCAACATTTGAGCTTGCTTGCTAGGGCTTGGGGAAGAGGAAATGAGACCAGGCCTCTGTGGCCGTGCGCTGGCGCATAGTAGGCACTCAGCCTGAGGCCTTGCCATTATTATTATGTTACTTTTATTTTAAGACAGAGTCTTACTCTGTGACCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGCCTCCCGGATTCAAATGATTCTCCTGCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTTCCACCGCACTTGGCTAATTTTTGTATTTTTATTACAGACGGGGTTTCACTATGTTGGCCAGGCTGCTTTCAAACTTCCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGCACCTGGCCTATCATTATTATTTTTTGAGACAGGGTCTCGTTCTGTTACCCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCCCTGTAGCCTCGCCCTCCCGGGCTCAATTAATCCTCCCACCTCAGCCTCCTGGGACTACAGGCATGCACCACCACGCCCGGCTAATTTTTGTATTTTTGGCAGAGATGGGGTTTTGCCATGTAGGTCAGGCTGGGGTCCCGGGCTCAAGTGATCCTCCCGTCTTGGCCTCCCAAAGCGCCGGGAGCCACGTTACAGGTGTGAGCCACTGCGCCTGGCCTATTATTATTAATGGTGGGCATAATAAGAGACCACCCTGAAAGATGGAGAGGGAAGACAGGGTGGGATTCGTTAGGCCCCACTGCCCAGAGGCAGGGGGCTGACCTGCTTGGCCTCCTCACCCAGCCAGTAGACTCCACCATCTTCAAGTCCATGGGGTCGCCCACGGGGGTGTCCTGGAGCCGGCTGAGGGCATGGCAGGTGGCCAGTGCTCGGAGCAGGGGCCCCACAGGCAGGCGGCGAGGCTCTGGGACCAGGGGCAGGAATGCCTGCCCCTTCAGGGGCACCACCCCCATCACGTCTAAGCCGTCCTCAGTGAGGGTGCCCGTCTGTGGGAGACAGGTGGGTGGGGCAGCGATGAGTCCTGGGATGGGGGTACCCTGCTGAGCTGGGCCTCCAAACCCCAGGCCCGGCGGACCCTATGGGAACCCCAGGAACTCGAGCTGGAGCCAAAAGATGACCTTTCTTGACTGCTGTCCTTGGCACATGTGATTCCCTCTGCTGGGGTCCCCCTCCCCAGCCCCCACCGTCTCTCTGTCTAGCATCATCTCTTCCAGGGTGTCTTCCTCCTTAACTCC
|
AGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGAGCTCCACATATACTCCTTTTTTTTCTTTTTTTAAGACAAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCTTCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGAGGGTGCGACCACACCAGGCTAATTTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTCAGGTGATCCCCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCACGAGCCATGTGCCCAGGCTACATATACTCCTTACTGCTGTGTGACTCTGCTGCCAAGTGCCCATGAATGTGTGTGCACATATGTGTGTGTGCAGGGGCGGGGAGGACAAGGACACAGACCTCTTAGCTCCTGCTGTCTCACCCTAGCTAGAATCTTTTTTTTTTTGAGACTGGGTCTCTCTCTGTTGCCCAGGCTGGAGTGAAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCCACCACCATACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCGTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGTGCCCGGCCATTTTCGTATTCTTTGTAGAGACGGAGTTTTGCCATGTTGCCCAGGTTGGTCTTGAACTCCAGGGTTCAAGACATCCTTCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAGTACCGTGCCCGGCCAGAATCTTTCTCTTCCTGCTCCTTGAGCTTGTCACAGCCTCTGAGGCTGACATCATTATCCCCATTTCTCAGAGGTGCCACCTGGAACCCAGGCTGTCTGACAGCGCACATGGGTTCCTTGGAAGTCACTCCACTCCTCTGAGTCTCAGTTTCCTCATCTGTCAAACAGGGGTGACAATTACCACTTGCGGGGGGGATATTGTGAAGATTCACGAAATGTTTAAAAAGGACCTGGCCTGAAGCAAGGGCCCAAAAAGATGCCCCAAAAAGGAATCCCTGGTGCCCCTCTTCTCTGCCAGGAAGGGGCGGATTCTGCCCTGCTAGCCCGGGCCCCTACATGCCATTGTACCTGTCACCATGACGGCGCGGATGCGGGTCCTTCGCAGAGCCTGGATAACTGGCGTTGTCTGCGGCTTCAGTAGGTTCCTCATGACCAGCAGCCCCAGGAGGCTCAGGTCTCCTTCCACAGTGTCCCTGGAGGGTGGGCAGACCTGGATCAGAGGTCATGCAGTGGCCAGGGCCCCTCTCCCAGCCACCAGGCAGGGCATCTTCCTTGGGCTCTGCCTGCGTGAGAGCCTCCCTCTGCCTAGTCCTCAGAGTGGGTGGGACAGGAGACAGGCCCACCTCGTCAGTTGCTGGGCTGCCTCCAGGCTGGCACAGTGGGCAGTGGCTTGCTGGCCAGGGCCACGACACGGTAGCCAGCAGCTGTATAGCTCTGCAGCATCTGGGCGAAGTCGGTGGGCACTGCCAGGGAGAGGCAGGTGTCACAAGGAGGGGATGGCAGGGACAGAGGCTGGGTACCCACCCCATTCTGTGCCAATGCCCAACCAGGGGGACTCAGGGGCTTCCCCCTGCACCTGTCTCGGGGTTGCAGAGCCCTGCCACCAGCTCCGGGGAGCCTTTGACGTAGGCCTCGGGCTGAGTGGCCCCTGGCCACGCCACCACCACACTCATGCGCTGCAGAGCCGAAGAGAAGGGGAAGCGGTGGAGGACGCTGACTGGCACCGGGGGCTCCTCCTGCAGGGTTGGAGAGGCAGCTGAGGTGCTGGCTGGGGAGCCCACCCCTCTGCCCTGCACCCAACAGGCCCCCCTCAGCTCACCATTGCCTGCAGCTGGGGCTCCCAAAGTGGGGGTCTCATCACTGCCAAGACCTGGGTCCCAAATGCTGAGTCTGCAGCCGGCTCTTCCTCCAGGACCTGGCAGGCAGGCAGGGAAGTTTGGTGTCTGGGGGCTTTGGCTCACAGAGAGATTTGAGCTAGACTCAGGGAAGACTTCCTTCATGGGAGACTGAATGGTGGGTTAAGAATGTGGGCTTTGGAGCCCGGTGGACTCAAATTCAAACTCTAGCTTTGCTACTTACAAGCTGTTGGGTGACCTGGAATACGTCACTCCAAATCTCCCAGCCTCAGCATCCGTGAAGCAACATTTGAGCTTGCTTGCTAGGGCTTGGGGAAGAGGAAATGAGACCAGGCCTCTGTGGCCGTGCGCTGGCGCATAGTAGGCACTCAGCCTGAGGCCTTGCCATTATTATTATGTTACTTTTATTTTAAGACAGAGTCTTACTCTGTGACCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGCCTCCCGGATTCAAATGATTCTCCTGCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTTCCACCGCACTTGGCTAATTTTTGTATTTTTATTACAGACGGGGTTTCACTATGTTGGCCAGGCTGCTTTCAAACTTCCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGCACCTGGCCTATCATTATTATTTTTTGAGACAGGGTCTCGTTCTGTTACCCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCCCTGTAGCCTCGCCCTCCCGGGCTCAATTAATCCTCCCACCTCAGCCTCCTGGGACTACAGGCATGCACCACCACGCCCGGCTAATTTTTGTATTTTTGGCAGAGATGGGGTTTTGCCATGTAGGTCAGGCTGGGGTCCCGGGCTCAAGTGATCCTCCCGTCTTGGCCTCCCAAAGCGCCGGGAGCCACGTTACAGGTGTGAGCCACTGCGCCTGGCCTATTATTATTAATGGTGGGCATAATAAGAGACCACCCTGAAAGATGGAGAGGGAAGACAGGGTGGGATTCGTTAGGCCCCACTGCCCAGAGGCAGGGGGCTGACCTGCTTGGCCTCCTCACCCAGCCAGTAGACTCCACCATCTTCAAGTCCATGGGGTCGCCCACGGGGGTGTCCTGGAGCCGGCTGAGGGCATGGCAGGTGGCCAGTGCTCGGAGCAGGGGCCCCACAGGCAGGCGGCGAGGCTCTGGGACCAGGGGCAGGAATGCCTGCCCCTTCAGGGGCACCACCCCCATCACGTCTAAGCCGTCCTCAGTGAGGGTGCCCGTCTGTGGGAGACAGGTGGGTGGGGCAGCGATGAGTCCTGGGATGGGGGTACCCTGCTGAGCTGGGCCTCCAAACCCCAGGCCCGGCGGACCCTATGGGAACCCCAGGAACTCGAGCTGGAGCCAAAAGATGACCTTTCTTGACTGCTGTCCTTGGCACATGTGATTCCCTCTGCTGGGGTCCCCCTCCCCAGCCCCCACCGTCTCTCTGTCTAGCATCATCTCTTCCAGGGTGTCTTCCTCCTTAACTCCN
|
pathogenic
| 3,996 |
Gene ATP13A2 (ATPase cation transporting 13A2) variant at chromosome position 17000015 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['ATP13A2-related_disorder', 'Autosomal_recessive_spastic_paraplegia_type_78', 'Kufor-Rakeb_syndrome']
|
TGCTCGCCATGGCCCTGTGAAGTCCTGGGCAGGCTGCCTAGCAAACAGTGGCACTCCCTTACTGAATGCCTGCAGGCTGGGACTATTGAGCACCTACTGTGTGCACATTCCTGCAAGGGAGTCAGACAATCCTGCCATGTCTGCCTCACAAGAGATGAGCAGATGAAGTATGTGTGGACAGTTTGTGGAGGGCAGGGCTCAGGGCGTGTGCCCACAAATCATACTGATCACAATTACTACTTTTTTTTTGTTTTCTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTAGGCTCAAACGATCCTCCCACCTCAGCCTCCCAAGTACCTGGGACGATAGACGTGCACCACTACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGGTTTCAACATGATTTCCAGGCTGTTTTCGAACTCCTCACCTCAGGCAATCCACCCACCTCTGCCTGCCAAAGTGTTGGGATTACAGGTGCGAGCCACTGCGCCTGGCCTACGATTTGTGATACAAATACAATGCCAGCCAGAAAACTTCCCTGGAAAAAAACCACTATCCTGTGGTTTTTAGTAAACTCTCTCCAGTATCTACCACCAAAATATAACACATCTCAGAGAAAGAAATACTTGCACACATCAAGAGACACAGGACAAAGCTGCTCCTGTGGCGTCCTTTGCAATGGCTGGAAAATCACATTCTAAATACTCATGGCGAGCGGGCCGGTTGAGTCAGTTACGATACATCCGTATTGTGGACTCTCATGCAGCCATGAGGTGGGGCCATCCGTGCTTGTGGAAGGATGCCAGGAGAAAAAGCAAAGTATGGAACAATACACAGCATACAATCCCACGTTCAGAACAAAAGGAGAGGCAAATCAGCCCATGTGCACACACGTAATGCAGAAAAAGGCGTGGAAGACACCTCACACCCTTCACAGTGGCTGCCCTGGGGAGGGGAAGGGAAGGGGACTGTGGGGTAGTGAATGGGGACCGCAGTCTCTCACTCTGGGAGAGGGCTTCCCACTCTCCTGTGCCATCTGGAATCTTTATGACCTGAAGGTGGGCACTGGTATAGAAACAGCTCAGATGCAGCCAGGTGCTATGGTTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGACCAACGTGGTGAAACCCCATCTCAACTAAAAATACAAAATTAGCCGGGTATGGTGGCGCACACCTGTAATCCCAGGTACTTGGGTGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCATGGTACTCCAGCCGGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAATAGCCCAGATGCACTGGGTGGCTGGCCATTTATGCTGCACCTCTCACGCTCCTAAGCACTTTGCACAACTCTGTCCAGGAGGAGTGACTGACAGCCATCTTACAGAAGAAGGAACTGAGGCACGGAGATGATACGTGGTAACGGCCCAGGGGTGTGAGGTTAGCAAGTCCTAAAGCTGGGATTGTTGCTTGAGAGAAAAAGGAAGAGGAGGCGGAGCGCTGGCACACGCCTGAAATCCCAGCACCTTGGGAGGCCGAGGTGGGCAGATAACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAAACTCCATCTCTACTAAAAATAAAAAATTAGCTGGGCGTGATGGTATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGGGGTGGAGGCTGCAGTGAGCTGAGATCATGTCACTGCACTCCAGCCTGGACAACAGAGTGAAACTCCGTCTCACAAAAAAACAAAAAAGGAAAAGGAAACTCAAATGAAAACTTTTGCCGCAGGGCAAAGGGTTGGATGGCAGGGGAGGAAGGAAGCTGCAGGCCAGGGGCTGGGGGCTCACCTGTCAGAGAGCTCTCATTCACCATGCACTCGCCGGCCACCAGGGCGGCATCACAGGGCATCAGCCCACCCTCCTGGGGCAGCACCAGGCAGTCTCCGGGCACTAGCTCACTGGAGTCCACCCACTCTTCCTCTGCAGGCAGGCAGGAGAGGAGCTCAGCTAGGTGGGGCCAGCCCCAGCCATGCCCCCCCACCCTCCCACTCCTGCCCCCGCCCCCTGGGCCCTAGCTCCTCACCTCCCCCTGGCCGGCACACGCACACCCGCATGGACAACTTGACCATGTCCCTTAGAGTCTGGCTTTGCTGTGGGCAGGGGACAAGAGGGCCGTGAGTGGGTGGGGGCCCCTGGGGACCCACCTGTCCCGTCCCCACCCACCTTATGGCACTCACCTTTCTGGTCTTGTACAGCGACAGGCAGATGGAGATGGAGGAAATGAGGAAGATGCACAGGGCGTACCAGTAGTAGTGGTCAGCCAGCCACAGCGCGATGCTGAAGGCCTGGAACCCATAGTAGGGGTTCAGTGCCTGGGGGAGGGGCGGGAGGCAGCGTCAGGGCCGCGTCCCCCAGGGCAGCCCAGCCACAGGCTGGGTCTCCTGTGCCCATGGGAGCAGAGGGCCCAGTGGCTGCCAAAGGACTGGAGCCAGGCCTTTCTCCTGGTCAATCCCATCCCCACCCAACCAGACATCCCCAGGGCCCTCAGTTTCTCCGCTCTAAAGAGGACAAGGGTTTATGACCAGCCTGGGCAACATGGCGAAACCCCATATCTACAAAAAATACAAAAATTAGCCTGATGGGGTGGCCTGTGCCTACGCTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCTGGGGAGGTGGAGGGTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGAGTGACAGAGGGAGACCCTGTCTCAAAAAAAATAAACAAATAAATAAATAGGATAAGGGTATTTACTGAACCCCCACTACACGCCAAGTGCTTTATCTAAGTGTCATACAATGGCAATGACAATTCTACAAGGCCGGTACCACCATTAGCTCCATTCTACAGATGAGGAAACCAAGGCATGGACAGGTGAAGCCACTGGCCTAAAACCACATAGTTCCAGCCAGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGCAAGGCCGAGGCAGGTGGGTCATCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAATCCCCGTATCTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTATGTAGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGTGGACATCGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAACAACAAACAAAAAACAAAAAACCACATAGCTTCTAAGTGACAGACTGATTTCTATGGGGCCAGACTCAAAGATCTCTTTCATGGTGCCTGCCCCCGATCAGAGGGCTGGGATGTTCACACTTTATTCTAGTTGTGTCCAGGTCACTGGCTTCTCTTTGTCCCTGTGTGACCTTGGCCATGTCACAGCCTCCAACTGAAGCTTGGATTTCTCAGGTGTGAACAGTGCAGTCCCAGGCCCAACCCACGGGACTGTTGGGAGCATGAAAGTGGAGGACGCACAGAGAGGACCCAGGCTCTAGGGCGTGTCTCTGGGGACCCCATAGATGCTCAGGCTGCGTGGATTTGCCTCTTGGCCTCCAATCCCTATGAGTGGGGCCCCAATCTGTGACCCAAGCCTTGGGCAGAACCTCCAATTCCTGGACCTGGTCTCTCTGGCTAGGCTGACTGCGGCAGGTTCTGAGATGACGATCCACTATGGAGAAGGGGACAGCTGGTCTGGTTGCCACCGTAAAGTGGCCCAGAGGAGGCAAGCCCTGGGCCAAGGTCACACAGCACGCCAGGCAGGGCTGGGGCAAGACCCAGGGACAGCCCTACCTCGTCCACCAGCAGCTGGGGGTAGGACT
|
TGCTCGCCATGGCCCTGTGAAGTCCTGGGCAGGCTGCCTAGCAAACAGTGGCACTCCCTTACTGAATGCCTGCAGGCTGGGACTATTGAGCACCTACTGTGTGCACATTCCTGCAAGGGAGTCAGACAATCCTGCCATGTCTGCCTCACAAGAGATGAGCAGATGAAGTATGTGTGGACAGTTTGTGGAGGGCAGGGCTCAGGGCGTGTGCCCACAAATCATACTGATCACAATTACTACTTTTTTTTTGTTTTCTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTAGGCTCAAACGATCCTCCCACCTCAGCCTCCCAAGTACCTGGGACGATAGACGTGCACCACTACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGGTTTCAACATGATTTCCAGGCTGTTTTCGAACTCCTCACCTCAGGCAATCCACCCACCTCTGCCTGCCAAAGTGTTGGGATTACAGGTGCGAGCCACTGCGCCTGGCCTACGATTTGTGATACAAATACAATGCCAGCCAGAAAACTTCCCTGGAAAAAAACCACTATCCTGTGGTTTTTAGTAAACTCTCTCCAGTATCTACCACCAAAATATAACACATCTCAGAGAAAGAAATACTTGCACACATCAAGAGACACAGGACAAAGCTGCTCCTGTGGCGTCCTTTGCAATGGCTGGAAAATCACATTCTAAATACTCATGGCGAGCGGGCCGGTTGAGTCAGTTACGATACATCCGTATTGTGGACTCTCATGCAGCCATGAGGTGGGGCCATCCGTGCTTGTGGAAGGATGCCAGGAGAAAAAGCAAAGTATGGAACAATACACAGCATACAATCCCACGTTCAGAACAAAAGGAGAGGCAAATCAGCCCATGTGCACACACGTAATGCAGAAAAAGGCGTGGAAGACACCTCACACCCTTCACAGTGGCTGCCCTGGGGAGGGGAAGGGAAGGGGACTGTGGGGTAGTGAATGGGGACCGCAGTCTCTCACTCTGGGAGAGGGCTTCCCACTCTCCTGTGCCATCTGGAATCTTTATGACCTGAAGGTGGGCACTGGTATAGAAACAGCTCAGATGCAGCCAGGTGCTATGGTTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGACCAACGTGGTGAAACCCCATCTCAACTAAAAATACAAAATTAGCCGGGTATGGTGGCGCACACCTGTAATCCCAGGTACTTGGGTGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCATGGTACTCCAGCCGGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAATAGCCCAGATGCACTGGGTGGCTGGCCATTTATGCTGCACCTCTCACGCTCCTAAGCACTTTGCACAACTCTGTCCAGGAGGAGTGACTGACAGCCATCTTACAGAAGAAGGAACTGAGGCACGGAGATGATACGTGGTAACGGCCCAGGGGTGTGAGGTTAGCAAGTCCTAAAGCTGGGATTGTTGCTTGAGAGAAAAAGGAAGAGGAGGCGGAGCGCTGGCACACGCCTGAAATCCCAGCACCTTGGGAGGCCGAGGTGGGCAGATAACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAAACTCCATCTCTACTAAAAATAAAAAATTAGCTGGGCGTGATGGTATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGGGGTGGAGGCTGCAGTGAGCTGAGATCATGTCACTGCACTCCAGCCTGGACAACAGAGTGAAACTCCGTCTCACAAAAAAACAAAAAAGGAAAAGGAAACTCAAATGAAAACTTTTGCCGCAGGGCAAAGGGTTGGATGGCAGGGGAGGAAGGAAGCTGCAGGCCAGGGGCTGGGGGCTCACCTGTCAGAGCTCTCATTCACCATGCACTCGCCGGCCACCAGGGCGGCATCACAGGGCATCAGCCCACCCTCCTGGGGCAGCACCAGGCAGTCTCCGGGCACTAGCTCACTGGAGTCCACCCACTCTTCCTCTGCAGGCAGGCAGGAGAGGAGCTCAGCTAGGTGGGGCCAGCCCCAGCCATGCCCCCCCACCCTCCCACTCCTGCCCCCGCCCCCTGGGCCCTAGCTCCTCACCTCCCCCTGGCCGGCACACGCACACCCGCATGGACAACTTGACCATGTCCCTTAGAGTCTGGCTTTGCTGTGGGCAGGGGACAAGAGGGCCGTGAGTGGGTGGGGGCCCCTGGGGACCCACCTGTCCCGTCCCCACCCACCTTATGGCACTCACCTTTCTGGTCTTGTACAGCGACAGGCAGATGGAGATGGAGGAAATGAGGAAGATGCACAGGGCGTACCAGTAGTAGTGGTCAGCCAGCCACAGCGCGATGCTGAAGGCCTGGAACCCATAGTAGGGGTTCAGTGCCTGGGGGAGGGGCGGGAGGCAGCGTCAGGGCCGCGTCCCCCAGGGCAGCCCAGCCACAGGCTGGGTCTCCTGTGCCCATGGGAGCAGAGGGCCCAGTGGCTGCCAAAGGACTGGAGCCAGGCCTTTCTCCTGGTCAATCCCATCCCCACCCAACCAGACATCCCCAGGGCCCTCAGTTTCTCCGCTCTAAAGAGGACAAGGGTTTATGACCAGCCTGGGCAACATGGCGAAACCCCATATCTACAAAAAATACAAAAATTAGCCTGATGGGGTGGCCTGTGCCTACGCTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCTGGGGAGGTGGAGGGTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGAGTGACAGAGGGAGACCCTGTCTCAAAAAAAATAAACAAATAAATAAATAGGATAAGGGTATTTACTGAACCCCCACTACACGCCAAGTGCTTTATCTAAGTGTCATACAATGGCAATGACAATTCTACAAGGCCGGTACCACCATTAGCTCCATTCTACAGATGAGGAAACCAAGGCATGGACAGGTGAAGCCACTGGCCTAAAACCACATAGTTCCAGCCAGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGCAAGGCCGAGGCAGGTGGGTCATCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAATCCCCGTATCTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTATGTAGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGTGGACATCGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAACAACAAACAAAAAACAAAAAACCACATAGCTTCTAAGTGACAGACTGATTTCTATGGGGCCAGACTCAAAGATCTCTTTCATGGTGCCTGCCCCCGATCAGAGGGCTGGGATGTTCACACTTTATTCTAGTTGTGTCCAGGTCACTGGCTTCTCTTTGTCCCTGTGTGACCTTGGCCATGTCACAGCCTCCAACTGAAGCTTGGATTTCTCAGGTGTGAACAGTGCAGTCCCAGGCCCAACCCACGGGACTGTTGGGAGCATGAAAGTGGAGGACGCACAGAGAGGACCCAGGCTCTAGGGCGTGTCTCTGGGGACCCCATAGATGCTCAGGCTGCGTGGATTTGCCTCTTGGCCTCCAATCCCTATGAGTGGGGCCCCAATCTGTGACCCAAGCCTTGGGCAGAACCTCCAATTCCTGGACCTGGTCTCTCTGGCTAGGCTGACTGCGGCAGGTTCTGAGATGACGATCCACTATGGAGAAGGGGACAGCTGGTCTGGTTGCCACCGTAAAGTGGCCCAGAGGAGGCAAGCCCTGGGCCAAGGTCACACAGCACGCCAGGCAGGGCTGGGGCAAGACCCAGGGACAGCCCTACCTCGTCCACCAGCAGCTGGGGGTAGGACTNN
|
pathogenic
| 4,027 |
Evaluate this variant at chromosome 1, position 17002326, gene ATP13A2 (ATPase cation transporting 13A2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Autosomal_recessive_spastic_paraplegia_type_78', 'Inborn_genetic_diseases', 'Kufor-Rakeb_syndrome']
|
GACAACTTGACCATGTCCCTTAGAGTCTGGCTTTGCTGTGGGCAGGGGACAAGAGGGCCGTGAGTGGGTGGGGGCCCCTGGGGACCCACCTGTCCCGTCCCCACCCACCTTATGGCACTCACCTTTCTGGTCTTGTACAGCGACAGGCAGATGGAGATGGAGGAAATGAGGAAGATGCACAGGGCGTACCAGTAGTAGTGGTCAGCCAGCCACAGCGCGATGCTGAAGGCCTGGAACCCATAGTAGGGGTTCAGTGCCTGGGGGAGGGGCGGGAGGCAGCGTCAGGGCCGCGTCCCCCAGGGCAGCCCAGCCACAGGCTGGGTCTCCTGTGCCCATGGGAGCAGAGGGCCCAGTGGCTGCCAAAGGACTGGAGCCAGGCCTTTCTCCTGGTCAATCCCATCCCCACCCAACCAGACATCCCCAGGGCCCTCAGTTTCTCCGCTCTAAAGAGGACAAGGGTTTATGACCAGCCTGGGCAACATGGCGAAACCCCATATCTACAAAAAATACAAAAATTAGCCTGATGGGGTGGCCTGTGCCTACGCTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCTGGGGAGGTGGAGGGTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGAGTGACAGAGGGAGACCCTGTCTCAAAAAAAATAAACAAATAAATAAATAGGATAAGGGTATTTACTGAACCCCCACTACACGCCAAGTGCTTTATCTAAGTGTCATACAATGGCAATGACAATTCTACAAGGCCGGTACCACCATTAGCTCCATTCTACAGATGAGGAAACCAAGGCATGGACAGGTGAAGCCACTGGCCTAAAACCACATAGTTCCAGCCAGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGCAAGGCCGAGGCAGGTGGGTCATCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAATCCCCGTATCTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTATGTAGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGTGGACATCGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAACAACAAACAAAAAACAAAAAACCACATAGCTTCTAAGTGACAGACTGATTTCTATGGGGCCAGACTCAAAGATCTCTTTCATGGTGCCTGCCCCCGATCAGAGGGCTGGGATGTTCACACTTTATTCTAGTTGTGTCCAGGTCACTGGCTTCTCTTTGTCCCTGTGTGACCTTGGCCATGTCACAGCCTCCAACTGAAGCTTGGATTTCTCAGGTGTGAACAGTGCAGTCCCAGGCCCAACCCACGGGACTGTTGGGAGCATGAAAGTGGAGGACGCACAGAGAGGACCCAGGCTCTAGGGCGTGTCTCTGGGGACCCCATAGATGCTCAGGCTGCGTGGATTTGCCTCTTGGCCTCCAATCCCTATGAGTGGGGCCCCAATCTGTGACCCAAGCCTTGGGCAGAACCTCCAATTCCTGGACCTGGTCTCTCTGGCTAGGCTGACTGCGGCAGGTTCTGAGATGACGATCCACTATGGAGAAGGGGACAGCTGGTCTGGTTGCCACCGTAAAGTGGCCCAGAGGAGGCAAGCCCTGGGCCAAGGTCACACAGCACGCCAGGCAGGGCTGGGGCAAGACCCAGGGACAGCCCTACCTCGTCCACCAGCAGCTGGGGGTAGGACTTGACCGGTATGCTGATCACGTTGGGGCCGTAAATGGCCTTCCTGGAAGAGGGGATGAGGCCAAGCCATCAGAAGGAGGAGCTGTGGCTGGACCCTCCCGGGGTGAAGGAGCTCCCCACTTTCAGCTGGGGGAACTGAGGCCCAGAGAAGGCAGGTGACTGGAAGGCAACCACATTGGGGGGCAACACAAGGAGCCCCAGTTCTCAGGGCACCCCGGTCCAGGGCAGCACTGACCTCACCATTTGGTCCTGGAGGCTGAGGCCATGGCGGGAGCGGTGGACGTCGTCACAAGAGCGGCCATGGTCCAGGAGGCTGGGGGTGGGTGCGAGGGGACACGCATGGGCCATGGGGCCTGAGGTCTGCATCCCCCACCCTGTGCAGGCTGGAGACTATGGGCTCTAGGCCCCCCATCCCCGTTCTGCCACACTGAGCTCCTGGGAGCAAGTAAGCCCCCTTGAACCCAAGGCTTGGCTTTGCCCTTTTGTTCCTCTCACTGGGTTCCAAACCAAGTCACTGAAGAAGGAGAACAGCGAGAGATGATGCTAATAATATGAACAGTGAAAAGAGTAGCTGTTATTTAGTGATAAGGGCACTATTTACACTGATGATACCCTGGGCAAGTCACTTAACCTCTCTGTGCCTCAGTTTTCTCATCTGCAAAATGGGGGCAGTGACAGCACCTACCACATAGGGCCATGGGTAGATTAAGTGGGGCAAGCCTCGGGGACTGCTTTGGACGTGCCTGCCACTTGCTAAGTGATGAATGCACGGGTGATTTTTGCTATTATCCCCATCATGCAGCAGAGGCTGTTGCTGCCATCCCCATCTCCCCTCTGCCTCACCTCCACATGACAGCTGGACCCTGAAAACACCTGTCTTTACCTGAGGCCTTCTGGCTGCATGTGAATCCCCTGCCTGTGAGCCCGGAAAGCGTGGAAGACTTTGTGTCCCGTGACTGATAATGGCAGGGAATTTGATGGTAACTGTCCTCACTCCCTGTGTGAGGTCGCCCAGAGGTGTGTGGTCTACGCTGGCCCAAGGAGATCCCCAGGCGACTGAAGTCCGGGTGTCCACAGCTGTGGCAGCCAGCATAACCTCCCTCCGTGCTTCCATCCCTTCCCCAGCACTGCCTGGGATCAGCTTCAAAACAAACTCCCTGCCCTTGAGCCCTTGTCTGGGGGTCTGCTTCTGCGGCATTCAAACTAAAGTGTGTGAGCAGGGCCCGGTGGCTCATGCCTGTAATTCTAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGTATTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCCCTACAAAACATGCAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTGCAGTGAGCCGAGAATGCGGCATTGCACTCCAGCCCGGGCAACAAGAGTGAAACTCCATCTTAAAAAACAAACAAACAAACCAAAAAAACCACACACACACACACACACACACACACACACACACACATACACACAAACTAAGGTGTGTGGTGAGCTTGTGTTTCTTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCATGCTCTGTCATCCAGGCTAGAGTGCAGTGGCGCGATGTTGGCTCACTGCAACCTCTGCCGCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATGCCATCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCAGCATCTTGGCCAGGCTGATCTTGAACTCCTGACCTCGTGATCCACCTGTCTTGGCTTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGAGCTCATGTTTCTTAAGCCTTTTGTAGGTGGCAGAGCAGTGACTAAACCCCAAGCAGACAGTCTGAGTACAGAGCTGATAGTCTGATTCACAGTGGTGTCACAACCTCAGATCACATTCGGTGCCAAGCTCTACATAAATTATTATCTATTTCACCATCAAAACAATCCTAGGAGGCAGAAGTTATCTTCATGCCCTATTTATAGACAGAGATCCCAGGCCTGGAGGGGCTCAGTAACCTGCCCAAGGTTTCAGACAGCAAAAGCATCAGAGCTGAGAGGGGAGCCCAGGCCATGCCATGCCACCGTCTGTGCCCAAACCAGTGCCACTCTGGGAGGTGACATGAGCCACACAGGCCCTGACTCCTACCTGACCTGGTAGAAGGCTTGCTGGGTCTCGATCCAGATATAG
|
GACAACTTGACCATGTCCCTTAGAGTCTGGCTTTGCTGTGGGCAGGGGACAAGAGGGCCGTGAGTGGGTGGGGGCCCCTGGGGACCCACCTGTCCCGTCCCCACCCACCTTATGGCACTCACCTTTCTGGTCTTGTACAGCGACAGGCAGATGGAGATGGAGGAAATGAGGAAGATGCACAGGGCGTACCAGTAGTAGTGGTCAGCCAGCCACAGCGCGATGCTGAAGGCCTGGAACCCATAGTAGGGGTTCAGTGCCTGGGGGAGGGGCGGGAGGCAGCGTCAGGGCCGCGTCCCCCAGGGCAGCCCAGCCACAGGCTGGGTCTCCTGTGCCCATGGGAGCAGAGGGCCCAGTGGCTGCCAAAGGACTGGAGCCAGGCCTTTCTCCTGGTCAATCCCATCCCCACCCAACCAGACATCCCCAGGGCCCTCAGTTTCTCCGCTCTAAAGAGGACAAGGGTTTATGACCAGCCTGGGCAACATGGCGAAACCCCATATCTACAAAAAATACAAAAATTAGCCTGATGGGGTGGCCTGTGCCTACGCTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCTGGGGAGGTGGAGGGTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGAGTGACAGAGGGAGACCCTGTCTCAAAAAAAATAAACAAATAAATAAATAGGATAAGGGTATTTACTGAACCCCCACTACACGCCAAGTGCTTTATCTAAGTGTCATACAATGGCAATGACAATTCTACAAGGCCGGTACCACCATTAGCTCCATTCTACAGATGAGGAAACCAAGGCATGGACAGGTGAAGCCACTGGCCTAAAACCACATAGTTCCAGCCAGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGCAAGGCCGAGGCAGGTGGGTCATCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAATCCCCGTATCTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTATGTAGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGTGGACATCGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAACAACAAACAAAAAACAAAAAACCACATAGCTTCTAAGTGACAGACTGATTTCTATGGGGCCAGACTCAAAGATCTCTTTCATGGTGCCTGCCCCCGATCAGAGGGCTGGGATGTTCACACTTTATTCTAGTTGTGTCCAGGTCACTGGCTTCTCTTTGTCCCTGTGTGACCTTGGCCATGTCACAGCCTCCAACTGAAGCTTGGATTTCTCAGGTGTGAACAGTGCAGTCCCAGGCCCAACCCACGGGACTGTTGGGAGCATGAAAGTGGAGGACGCACAGAGAGGACCCAGGCTCTAGGGCGTGTCTCTGGGGACCCCATAGATGCTCAGGCTGCGTGGATTTGCCTCTTGGCCTCCAATCCCTATGAGTGGGGCCCCAATCTGTGACCCAAGCCTTGGGCAGAACCTCCAATTCCTGGACCTGGTCTCTCTGGCTAGGCTGACTGCGGCAGGTTCTGAGATGACGATCCACTATGGAGAAGGGGACAGCTGGTCTGGTTGCCACCGTAAAGTGGCCCAGAGGAGGCAAGCCCTGGGCCAAGGTCACACAGCACGCCAGGCAGGGCTGGGGCAAGACCCAGGGACAGCCCTACCTCGTCCACCAGCAGCTGGGGGTAGGACTTGACCGGTATGCTGATCACGTTGGGGCCGTAAATGGCCTTCCTGGAAGAGGGGATGAGGCCAAGCCATCAGAAGGAGGAGCTGTGGCTGGACCCTCCCGGGGTGAAGGAGCTCCCCACTTTCAGCTGGGGGAACTGAGGCCCAGAGAAGGCAGGTGACTGGAAGGCAACCACATTGGGGGGCAACACAAGGAGCCCCAGTTCTCAGGGCACCCCGGTCCAGGGCAGCACTGACCTCACCATTTGGTCCTGGAGGCTGAGGCCATGCGGGAGCGGTGGACGTCGTCACAAGAGCGGCCATGGTCCAGGAGGCTGGGGGTGGGTGCGAGGGGACACGCATGGGCCATGGGGCCTGAGGTCTGCATCCCCCACCCTGTGCAGGCTGGAGACTATGGGCTCTAGGCCCCCCATCCCCGTTCTGCCACACTGAGCTCCTGGGAGCAAGTAAGCCCCCTTGAACCCAAGGCTTGGCTTTGCCCTTTTGTTCCTCTCACTGGGTTCCAAACCAAGTCACTGAAGAAGGAGAACAGCGAGAGATGATGCTAATAATATGAACAGTGAAAAGAGTAGCTGTTATTTAGTGATAAGGGCACTATTTACACTGATGATACCCTGGGCAAGTCACTTAACCTCTCTGTGCCTCAGTTTTCTCATCTGCAAAATGGGGGCAGTGACAGCACCTACCACATAGGGCCATGGGTAGATTAAGTGGGGCAAGCCTCGGGGACTGCTTTGGACGTGCCTGCCACTTGCTAAGTGATGAATGCACGGGTGATTTTTGCTATTATCCCCATCATGCAGCAGAGGCTGTTGCTGCCATCCCCATCTCCCCTCTGCCTCACCTCCACATGACAGCTGGACCCTGAAAACACCTGTCTTTACCTGAGGCCTTCTGGCTGCATGTGAATCCCCTGCCTGTGAGCCCGGAAAGCGTGGAAGACTTTGTGTCCCGTGACTGATAATGGCAGGGAATTTGATGGTAACTGTCCTCACTCCCTGTGTGAGGTCGCCCAGAGGTGTGTGGTCTACGCTGGCCCAAGGAGATCCCCAGGCGACTGAAGTCCGGGTGTCCACAGCTGTGGCAGCCAGCATAACCTCCCTCCGTGCTTCCATCCCTTCCCCAGCACTGCCTGGGATCAGCTTCAAAACAAACTCCCTGCCCTTGAGCCCTTGTCTGGGGGTCTGCTTCTGCGGCATTCAAACTAAAGTGTGTGAGCAGGGCCCGGTGGCTCATGCCTGTAATTCTAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGTATTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCCCTACAAAACATGCAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTGCAGTGAGCCGAGAATGCGGCATTGCACTCCAGCCCGGGCAACAAGAGTGAAACTCCATCTTAAAAAACAAACAAACAAACCAAAAAAACCACACACACACACACACACACACACACACACACACACATACACACAAACTAAGGTGTGTGGTGAGCTTGTGTTTCTTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCATGCTCTGTCATCCAGGCTAGAGTGCAGTGGCGCGATGTTGGCTCACTGCAACCTCTGCCGCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATGCCATCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCAGCATCTTGGCCAGGCTGATCTTGAACTCCTGACCTCGTGATCCACCTGTCTTGGCTTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGAGCTCATGTTTCTTAAGCCTTTTGTAGGTGGCAGAGCAGTGACTAAACCCCAAGCAGACAGTCTGAGTACAGAGCTGATAGTCTGATTCACAGTGGTGTCACAACCTCAGATCACATTCGGTGCCAAGCTCTACATAAATTATTATCTATTTCACCATCAAAACAATCCTAGGAGGCAGAAGTTATCTTCATGCCCTATTTATAGACAGAGATCCCAGGCCTGGAGGGGCTCAGTAACCTGCCCAAGGTTTCAGACAGCAAAAGCATCAGAGCTGAGAGGGGAGCCCAGGCCATGCCATGCCACCGTCTGTGCCCAAACCAGTGCCACTCTGGGAGGTGACATGAGCCACACAGGCCCTGACTCCTACCTGACCTGGTAGAAGGCTTGCTGGGTCTCGATCCAGATATAGN
|
pathogenic
| 4,044 |
Evaluate this variant at chromosome 1, position 17018936, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
TCCCAGCTGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTTTCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGAATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTT
|
TCCCAGCTGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTAGCTTTCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGAATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAG
|
pathogenic
| 4,074 |
Is chromosome 1, position 17018943, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
TGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTTTCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGAATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTT
|
TGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTTTCCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGAATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCT
|
pathogenic
| 4,076 |
Located at chromosome 1 position 17018976, the variant affecting gene SDHB—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
ACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTTTCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGAATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGA
|
ACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTTTCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAN
|
benign
| 4,078 |
Does the variant impacting SDHB (succinate dehydrogenase complex iron sulfur subunit B) on chromosome 1, position 17022651, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
AGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAG
|
AGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGNNNN
|
pathogenic
| 4,093 |
Chromosome 1, position 17022653, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
|
CCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAA
|
CCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAANNNN
|
pathogenic
| 4,095 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 17022655, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): what disease(s) if pathogenic?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
AGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACC
|
AGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAAC
|
pathogenic
| 4,096 |
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17022659 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
|
CCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGA
|
CCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGAN
|
pathogenic
| 4,098 |
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17022685 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCT
|
CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
|
pathogenic
| 4,108 |
Is the genetic mutation found on chromosome 1 at position 17022685, within the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCT
|
CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGG
|
pathogenic
| 4,109 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 17022688, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
|
AAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCC
|
AAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCNN
|
pathogenic
| 4,110 |
The mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) at chromosome 1, position 17022691—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
CAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGC
|
CAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCNN
|
pathogenic
| 4,112 |
The genetic variant at chromosome 1, position 17023966, affecting gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
CCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACA
|
CCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCATGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACANNNNNNN
|
pathogenic
| 4,129 |
The mutation impacting SDHB (succinate dehydrogenase complex iron sulfur subunit B) on chromosome 1 at position 17023977: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Carney-Stratakis_syndrome', 'Gastrointestinal_stromal_tumor', 'Mitochondrial_complex_2_deficiency,_nuclear_type_4', 'Paragangliomas_4', 'Pheochromocytoma']
|
ACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAA
|
ACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATTAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCA
|
pathogenic
| 4,135 |
A mutation at chromosome position 17023993 on chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma']
|
GCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGA
|
GCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGANN
|
pathogenic
| 4,141 |
Considering the variant on chromosome 1, location 17023998, involving gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
AGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACT
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AGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTNNNNNNNNNN
|
pathogenic
| 4,143 |
Does the variant on chromosome 1 at location 17024005 affecting gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
CCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTG
|
CCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCA
|
pathogenic
| 4,144 |
Mutation at chromosome 1, position 17024009, within SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
TCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATC
|
TCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTAT
|
pathogenic
| 4,147 |
A genetic alteration at chromosome 1, position 17024016, in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma']
|
CCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAA
|
CCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
|
pathogenic
| 4,151 |
A mutation at chromosome position 17024023 on chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder']
|
TGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACA
|
TGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACAN
|
pathogenic
| 4,154 |
Mutation at chromosome 1, position 17024075, within SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
CTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCA
|
CTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCC
|
benign
| 4,172 |
The chromosome 1, position 17024081 genetic variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
AAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCT
|
AAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGAT
|
benign
| 4,175 |
A genetic variant on chromosome 1, position 17027751, affects the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
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pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
TACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCA
|
TACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTC
|
pathogenic
| 4,180 |
Is the genetic mutation found on chromosome 1 at position 17027797, within the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma']
|
GCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCC
|
GCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCN
|
pathogenic
| 4,190 |
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17027807 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
TTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCC
|
TTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCN
|
pathogenic
| 4,191 |
Does the genetic variant at chromosome 1, position 17027818, impacting gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
|
AAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGT
|
AAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTN
|
pathogenic
| 4,194 |
Variant at chromosome position 17027843, chromosome 1, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
|
AAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCAT
|
AAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTCCATAGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCC
|
pathogenic
| 4,201 |
Clinical classification of chromosome 1, position 17027844, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4']
|
AATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATG
|
AATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTCCATAGAGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCG
|
pathogenic
| 4,203 |
Is the genetic variant on chromosome 1, position 17027873, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
GGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAG
|
GGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCT
|
benign
| 4,207 |
Considering the variant on chromosome 1, location 17027875, involving gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
TTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGT
|
TTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTA
|
benign
| 4,208 |
For chromosome 1, position 17027877, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
GGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTG
|
GGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGN
|
benign
| 4,209 |
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome 1, position 17027878—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGG
|
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTA
|
benign
| 4,210 |
The chromosome 1, position 17027878 genetic variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGG
|
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTT
|
benign
| 4,211 |
Does the chromosome 1 mutation at position 17027878 within gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGG
|
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGNNN
|
benign
| 4,212 |
Evaluate if the mutation on chromosome 1 at position 17027878 in SDHB (succinate dehydrogenase complex iron sulfur subunit B) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGG
|
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGNNNNNNNNN
|
benign
| 4,213 |
Clinical classification of chromosome 1, position 17028579, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
ATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTT
|
ATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTNN
|
benign
| 4,215 |
Variant at chromosome position 17028610, chromosome 1, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGA
|
ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGAN
|
pathogenic
| 4,222 |
Variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), located at chromosome 1 position 17028643: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
|
CCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTT
|
CCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTT
|
pathogenic
| 4,226 |
Is the chromosome 1, position 17028689 variant in SDHB (succinate dehydrogenase complex iron sulfur subunit B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
|
AGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGC
|
AGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGATAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGA
|
pathogenic
| 4,235 |
Is the genetic change at chromosome 1, position 17028690, within gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
|
GATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCA
|
GATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCANN
|
pathogenic
| 4,236 |
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17028712 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder']
|
GACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTG
|
GACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGCCTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACT
|
pathogenic
| 4,239 |
Clinically, how would you classify the variant at chromosome 1, position 17033135, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, specify the associated illness(es).
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pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
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TCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATACAATTCTGCTTTATTTTTTTTAGTCCAGATGGGTCACACCTTATGTTCTTGGTTCTGAAAGAGTCCTACAGGGAAAGGTTACTGAAAAGCATCTACCTTTCCTGTGTTGCCAGGACTTAATGGGGAAGGCTGCTGTTTAACTGCCGCAGAATGTTCCCTGAACAGCAGGACTCAGCCGAACTATCATAATATCCATCAGCATTTGCAACGCTAAATAAGATTAGCTGAATCAAAACAGATGTCTTAAAAGACTTGAAATGCTTGAAATGTACAGCTGAACAGATAAAAAGCCATGGGCCGGTATCAATACTGGCTTTTCCTTTTTTTTTAAGGTTTTCTTAGAAAAAAGCTCAGTGTCCTCACAGAATCAAGCTACTCTCTGCTTTTGTTTTATCCCAGGTGTTCCAAGCCAAGTCAGTGCCTGAGAGAGCAGATCTGGAGTCTGGAGTCTGACAGCTTTGGCTGACTCCCGGCTCTCAAGTCACTCTCTATGTGTCCTTGTGGAAGTCCATTACCCTCTCTGGGCCTCACCTTTAAATTGAAGGTAGATAATAAGCACAGTCATCTACCTCATGTCCAGTGCACAGAACAGAGCCGGGCACACAGTCTGGCTCCACGGACATCAGGCCAGTCGGTCTTCACTGCACCCTGTGCAATTTTTGCTATACCTGAGAACCACCTGAATCAACTTTCTTTAAAGTATCTCTTGGGTTTTCTTTAACTTGTTTTGCTTAAATTCACATTAAAAAACCACTTATATCCCTATTATACCATCATTAGTAATTATATTTTTCTTTTTTTTTTTTTTGAGACTGTCTCGCTCTATTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAACTCCACCTCCCGGGTTCCTGCCTCAGCCTCCCGAGTAGCCAGGATTACAGGCGTCCGCTATCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGTTGATCTCGAACTCCTGACGCCAGCTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCAGTAATTATATTTTTCTAATACAGAAAATGAATACATTGCTATTCATGTAGAAAATGTTAGTCTGCACACTGCCTCAAATGGGCTCATGTGGCACCAGCAGCACAAGTAACCACATGCTGAGGGAGACACTGTACCAGCCAATCCAGAACACAGCTACCAAGGACATGTCATGCTGGGAGCTGAGGGAGACTCACACATCTCCCCTGCTGGACAAGCATAAGTGCCAGACAGAAACTCTCCACTGCTCCCTTAATAAAAGAGCTCAGCAGCATGGAAGGTGCCAGCCAGCAGGTCCTAGCTAGGCCTTGAAGCGTGGAGCAGCTCACAGGGACCGCCAGATGCAGTAACCACAGGATAGAATGCTCCTGAAGGAAAGTAAACTCAGAAACCAGAACTTGCACCATGGTTAGAATTTTGGATGCATTTACCCAAGAAAAGGAATTAGGTTGCACAGCAAGTTCACCCAGCAGAGAGCTGCAGCTGTTTTCCAGATGTCTCTATCAGCTTTGGCCAGCCCAAGCCTCTTTGGAAGACCACAAGTATCTGGAGCCCAACAGGAATGAAATGCTCACCTTCTCTGCATGATCTTCGGAAGGTCAAAGTAGAGTCAACTTCATTCTTAATCTTGATTAAAGCATCCAATACCATGGGGCCACATCTAACAAAGAAAAATATCCAGTGGTATTTATGTAACGTTCAACCTCCCTACACTTTATCATAATATAATCGGAGACACCTGGATGTATTAGCTTATCCATTTGGTCTTCTCAGGTCACCTTCGGAATTTGTTCTGTAGTTTTGTTTTTGCAGATTCTTACATTTTAAGTACTGCACAGTTCTATTTTGATGATCACAGTGCAAACACATTTCTAGGAAATGGAAAGCTAAAGTAGTAGTAGACAAGTATGACACAACTTCCATACAGTGGCCGAGTTTTTGTTTTTTACTTCTGAAGCTCCCTGCAAAGTTTTTCCAAATAATTTATTTCAAATTTTAGTTTGATTTTTAGGATGTAGACAATAGTTTTAAATAGTAATTAATAATACATAACCATAAGAGAAGACATAGTACAGAGAATAAAAGACACCCAATCACTCACAGTCCCCCAGTCAAATCACTGTGAGCCTCCTAGAACATACAAGGGCAGTGACATGGTACTAAGCGGAGCATCCCTGGGCGTGGGACCTGGAGTGCCGGCCTGGCAGCCAAGAGACTGGTCTGCACCATGGCTGAGCCACTTACCAGCTTGCAGGCAAATGATTTAATTTCTGCCTAGGCATTTAATCCACTGAGTGCAGAGAGCAGCACCTGCATCCCACAGGATTGCTGGAGGTGAGTTAATACACACGAGATCTTTACAGCAGCATCTGACATATAAATCATAGTTTAACTATAATAATCATCATGCAGAAACTGTGATTCTACGGAAATTACTCTCTGAACCTCAGTTTATCTGTAGAGTTAATATTTACACCACAGGGTTACTGTGAAAATTACATAAAAATATGTAATTTTTCATAGTACCTGGCATACAGTAAGTGCTCCACAAATCTATTTTCTGGTTGCCACCCTGCCCCCATTCCACTCACTAATTTTCTATGCATGAGATTAAAAATATACTTAAAAATACGTCATTTCCTTTAGTACTATCTGTATTTCATTTTTTTTCTTTTTTTTCTTGAGACGGGGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGATCTGTAACCTCCGCATCCCAGCCTCAAGAGATCCTCCTGCCTCAGCCCCCCAGTAGCTGGGACTACAGGTATGTGCCACCACATCCAGCTTAATTTTTGTATTTTTTTGTAGAGGTGGGATTTCGCCATGTTGCCCAGGCTGGTCTCTAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGATTCTCAAAGTGTTGGGATTATGGGTGTGAGGCAATGGTGCGATCTCGGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCGGCAAATTTTTGTATTTTTAGTAGAGATAGGTTTTCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTTCCCAAATGCTGGGATTACAGGTGTGAGCGACTGCGTCTGGCCCATTATCTGTATTTGTATCAGCACTATGTAGACGTCCTTTCTGCTGGACCTCTGCTAACACTGGGAATTGGAAGCTTTAAAAACCTTTGCTATTCTGATACTGGAGAAGTGTTATTGTTTTCAGTGTTTTAAATCGAGACTTTTGAATACTACATAGGTTGAATGTTTGTCATAAATTTACTAATTTTTCTTTATTTCCCAATTATTTATTGAACATTTACTCTGCCAGGTTCTGTTCTAGATGCTGGGGATGTAGCAGAGAATAAAAGAGACGAATACCACCTGCCCGCACAAAGCTCTGTTCCAGAGGACTCATTCTAGAGACTCAGTCTGTCCACATTCTTTGCCTCTGTTTACCAGGGTCTTGGAAATTCTTTTTCATGATCTGAGGCTCTTATATATTATATCTGTTGCCATTTCTGCTTCCTCCCTCACTGCCAATAGTAATGTGCTATTTGACTTCTAATTTTGGTAACAGAATTTTAAACATACATGAGTTAAAT
|
TCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATACAATTCTGCTTTATTTTTTTTAGTCCAGATGGGTCACACCTTATGTTCTTGGTTCTGAAAGAGTCCTACAGGGAAAGGTTACTGAAAAGCATCTACCTTTCCTGTGTTGCCAGGACTTAATGGGGAAGGCTGCTGTTTAACTGCCGCAGAATGTTCCCTGAACAGCAGGACTCAGCCGAACTATCATAATATCCATCAGCATTTGCAACGCTAAATAAGATTAGCTGAATCAAAACAGATGTCTTAAAAGACTTGAAATGCTTGAAATGTACAGCTGAACAGATAAAAAGCCATGGGCCGGTATCAATACTGGCTTTTCCTTTTTTTTTAAGGTTTTCTTAGAAAAAAGCTCAGTGTCCTCACAGAATCAAGCTACTCTCTGCTTTTGTTTTATCCCAGGTGTTCCAAGCCAAGTCAGTGCCTGAGAGAGCAGATCTGGAGTCTGGAGTCTGACAGCTTTGGCTGACTCCCGGCTCTCAAGTCACTCTCTATGTGTCCTTGTGGAAGTCCATTACCCTCTCTGGGCCTCACCTTTAAATTGAAGGTAGATAATAAGCACAGTCATCTACCTCATGTCCAGTGCACAGAACAGAGCCGGGCACACAGTCTGGCTCCACGGACATCAGGCCAGTCGGTCTTCACTGCACCCTGTGCAATTTTTGCTATACCTGAGAACCACCTGAATCAACTTTCTTTAAAGTATCTCTTGGGTTTTCTTTAACTTGTTTTGCTTAAATTCACATTAAAAAACCACTTATATCCCTATTATACCATCATTAGTAATTATATTTTTCTTTTTTTTTTTTTTGAGACTGTCTCGCTCTATTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAACTCCACCTCCCGGGTTCCTGCCTCAGCCTCCCGAGTAGCCAGGATTACAGGCGTCCGCTATCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGTTGATCTCGAACTCCTGACGCCAGCTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCAGTAATTATATTTTTCTAATACAGAAAATGAATACATTGCTATTCATGTAGAAAATGTTAGTCTGCACACTGCCTCAAATGGGCTCATGTGGCACCAGCAGCACAAGTAACCACATGCTGAGGGAGACACTGTACCAGCCAATCCAGAACACAGCTACCAAGGACATGTCATGCTGGGAGCTGAGGGAGACTCACACATCTCCCCTGCTGGACAAGCATAAGTGCCAGACAGAAACTCTCCACTGCTCCCTTAATAAAAGAGCTCAGCAGCATGGAAGGTGCCAGCCAGCAGGTCCTAGCTAGGCCTTGAAGCGTGGAGCAGCTCACAGGGACCGCCAGATGCAGTAACCACAGGATAGAATGCTCCTGAAGGAAAGTAAACTCAGAAACCAGAACTTGCACCATGGTTAGAATTTTGGATGCATTTACCCAAGAAAAGGAATTAGGTTGCACAGCAAGTTCACCCAGCAGAGAGCTGCAGCTGTTTTCCAGATGTCTCTATCAGCTTTGGCCAGCCCAAGCCTCTTTGGAAGACCACAAGTATCTGGAGCCCAACAGGAATGAAATGCTCACCTTCTCTGCATGATCTTCGGAAGGTCAAAGTAGAGTCAACTTCATTCTTAATCTTGATTAAAGCATCCAATACCATGGGGGCCACATCTAACAAAGAAAAATATCCAGTGGTATTTATGTAACGTTCAACCTCCCTACACTTTATCATAATATAATCGGAGACACCTGGATGTATTAGCTTATCCATTTGGTCTTCTCAGGTCACCTTCGGAATTTGTTCTGTAGTTTTGTTTTTGCAGATTCTTACATTTTAAGTACTGCACAGTTCTATTTTGATGATCACAGTGCAAACACATTTCTAGGAAATGGAAAGCTAAAGTAGTAGTAGACAAGTATGACACAACTTCCATACAGTGGCCGAGTTTTTGTTTTTTACTTCTGAAGCTCCCTGCAAAGTTTTTCCAAATAATTTATTTCAAATTTTAGTTTGATTTTTAGGATGTAGACAATAGTTTTAAATAGTAATTAATAATACATAACCATAAGAGAAGACATAGTACAGAGAATAAAAGACACCCAATCACTCACAGTCCCCCAGTCAAATCACTGTGAGCCTCCTAGAACATACAAGGGCAGTGACATGGTACTAAGCGGAGCATCCCTGGGCGTGGGACCTGGAGTGCCGGCCTGGCAGCCAAGAGACTGGTCTGCACCATGGCTGAGCCACTTACCAGCTTGCAGGCAAATGATTTAATTTCTGCCTAGGCATTTAATCCACTGAGTGCAGAGAGCAGCACCTGCATCCCACAGGATTGCTGGAGGTGAGTTAATACACACGAGATCTTTACAGCAGCATCTGACATATAAATCATAGTTTAACTATAATAATCATCATGCAGAAACTGTGATTCTACGGAAATTACTCTCTGAACCTCAGTTTATCTGTAGAGTTAATATTTACACCACAGGGTTACTGTGAAAATTACATAAAAATATGTAATTTTTCATAGTACCTGGCATACAGTAAGTGCTCCACAAATCTATTTTCTGGTTGCCACCCTGCCCCCATTCCACTCACTAATTTTCTATGCATGAGATTAAAAATATACTTAAAAATACGTCATTTCCTTTAGTACTATCTGTATTTCATTTTTTTTCTTTTTTTTCTTGAGACGGGGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGATCTGTAACCTCCGCATCCCAGCCTCAAGAGATCCTCCTGCCTCAGCCCCCCAGTAGCTGGGACTACAGGTATGTGCCACCACATCCAGCTTAATTTTTGTATTTTTTTGTAGAGGTGGGATTTCGCCATGTTGCCCAGGCTGGTCTCTAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGATTCTCAAAGTGTTGGGATTATGGGTGTGAGGCAATGGTGCGATCTCGGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCGGCAAATTTTTGTATTTTTAGTAGAGATAGGTTTTCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTTCCCAAATGCTGGGATTACAGGTGTGAGCGACTGCGTCTGGCCCATTATCTGTATTTGTATCAGCACTATGTAGACGTCCTTTCTGCTGGACCTCTGCTAACACTGGGAATTGGAAGCTTTAAAAACCTTTGCTATTCTGATACTGGAGAAGTGTTATTGTTTTCAGTGTTTTAAATCGAGACTTTTGAATACTACATAGGTTGAATGTTTGTCATAAATTTACTAATTTTTCTTTATTTCCCAATTATTTATTGAACATTTACTCTGCCAGGTTCTGTTCTAGATGCTGGGGATGTAGCAGAGAATAAAAGAGACGAATACCACCTGCCCGCACAAAGCTCTGTTCCAGAGGACTCATTCTAGAGACTCAGTCTGTCCACATTCTTTGCCTCTGTTTACCAGGGTCTTGGAAATTCTTTTTCATGATCTGAGGCTCTTATATATTATATCTGTTGCCATTTCTGCTTCCTCCCTCACTGCCAATAGTAATGTGCTATTTGACTTCTAATTTTGGTAACAGAATTTTAAACATACATGAGTTAAA
|
pathogenic
| 4,272 |
Chromosome 1, position 17044790, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Carney-Stratakis_syndrome', 'Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_2_deficiency,_nuclear_type_4', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder', 'likely other unspecified diseases']
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CACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGT
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CACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTNNNNN
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pathogenic
| 4,289 |
The mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) at chromosome 1, position 17044816—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
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pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
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CCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCA
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CCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGG
|
pathogenic
| 4,293 |
Subsets and Splits
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