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
|
|---|---|---|---|---|---|
Regarding the variant found on chromosome 1 at position 17044848 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
|
CAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCAGGCCCGGCTAATTTTGTATTTT
|
CAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCAGGCCCGGCTAATTTTGTATT
|
pathogenic
| 4,303 |
Variant at chromosome position 17044872, 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', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
|
TTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCAGGCCCGGCTAATTTTGTATTTTTAGTAGAGATGTGGTTTGTCTATG
|
TTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCAGGCCCGGCTAATTTTGTATTTTTAGTAGAGATGTGGTTTGTCTATGN
|
pathogenic
| 4,307 |
For chromosome 1, position 17053948, gene SDHB: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder']
|
GGTGCGATTTCAGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTC
|
GGTGCGATTTCAGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTT
|
pathogenic
| 4,322 |
Is chromosome 1, position 17053978, 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', 'Paragangliomas_4', 'Pheochromocytoma']
|
CTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTCTGTCTGCTTGTTTTGGACATGTG
|
CTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTC
|
pathogenic
| 4,331 |
Determine whether the variant at chromosome 1, position 17053998, in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma']
|
TCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTCTGTCTGCTTGTTTTGGACATGTGAAGGGCGCCTTTCTATAGTC
|
TCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTCTGTCTGCTTGTTTTGGACATGTGAAGGGCGCCTTTCTATAGTCN
|
pathogenic
| 4,340 |
Chromosome 1, position 17053999, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4']
|
CCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTCTGTCTGCTTGTTTTGGACATGTGAAGGGCGCCTTTCTATAGTCT
|
CCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTTCAGTGGTCAGACTATAAGCATAAAAAGAATTCAGAACCTGAACCTGAATGTTACCCACAGGTAACACACCAAGCTCATTACTGAATTCTTTTGAGGTGGCTTTTGTGGGTATACATGTACATTCCCACAAGGAAGGGGAGGCCTTGGGGCTCTTCTATTTTCTGTTGCCCTCAGGAGGCCCTGCAAAGACCTTGCCTGGAATTACAAAAATGACCTATGAAATTAGCCTTTTCTACAATGCATTCTTAGAAGAGGGGCTTGGAACTCTCTCGTTAGTGGGGCTCTCACAATTTAATTGTTTGCTCAGCAACTATAAAAGGAACAGGTAAACAAGCTCATTATCAATCATCAATTTAATACTGAGAGGATGTCAGCTTGAGGCTCTGGTAGGCTGTCTTCTTCCTCTATCTCCCCTTTTCAGAAAGGCTGATGCAGACAGAGTGGATCCAAGTTCACACACAGCATGCTGGATAGAACCAGGATTGGAACATGGGCAATATGTACTGTGTTATGCAGCCATAGCAGGCACTTAAGATGAAAGATGTCCTCATTTAAGTGCAAGAGAGGAAGAGGAACTAAAATTTCTTGGACACCAACCATGTCCCAAGATCTATGCTAAGGAGTTTTTCTGGTACCATGTTAAAAAACTGCCTCAGGTCTGCTTCTTGGGAATGTGATATTTTGAGCAAGCCAAAAATTTTCTTTCTGGGGGCCTCAAGTTTTCAAAGCTCCAAAAAGGAGGGTAAGGATTCTTGCTTGCCCACCTTAAAGGGGTTGTTGAGAATCCCAGAAGAGGAACAGACTTAGAAAGGATTTGCAAATCCTTAGTCCCTTATGTATACAAAAGCAATTTCCCTTCCCCTTCTAAATGTTCCCACTTAGAAGGCAGGTCAGAAATGTGTTGTTTCTTGGCCATACAAGGGGCGTGGGAAAATCTGTTACTGCACACGGCATAGTAATAAACAAGAACAGCGCCAAGCCCTCTACCTGTCATTCCATGTCAACTCTATGAGGTCCGTATTATTATATGACCTTTAGAGTCAGAAACACTGAGAGGATACTAGTGAAACTGTGGTGACACTGCTTTAAGGAACCCAGTCTTTCCTGCAACCCCCACCACCCACCTCCGGGATCCTTCGAGGTAGGGGGCTGGGTGCATTTCCCTCCATCTCTCCCTTCCCCTGCCCTGTCCCCAACAATTCACATGTCCTTTCCTCACCCATCCCGGTCCTCAACCTCGCACCCTTGAGGAATTACCTCGCTTCCCAATTCCCATCCTTCACACCCCGCAGGTCTCCCTTTTCTACAGAGGCGATAGTTTGGTGGCAGAAAAAGGGCTTGGAACTCCAATGTCTGGATTCAAATTCTGGTTCCAGCAGTCATTCGCTTGCCATGTGACCTTGAGCAATTCAAGTCCCCTTTCTGAACGTCCCCCCCCCCCGCACCCTTAGCTGTAAAAAATTGCCCGTGCCCTAACTCACAAGCTGCTGCGAGGCGCAGAAAGATAACTTGACAGGGATGCTCGAAGCCAAACCAAAGCACTGCACCAGGGGGAGGAGGTCCTCCATCTCCCTGAGGCCTTGCCCTATGCTTCCTCAGTCTCTCCGCAGCCCCATCAGCTCCAGGCAGTCTCTGTGGCTTTCCTGACTTTTCCCTCTCTGAGGCTCCAGGACTCACCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAAGTGCGACCACCGCCGCCATCTTGGCTCCTGACGTCAGCCCCACCCCTTAACCCCGAGGTCGCTCTCCGCCGGTGTCCCGTCGAACATCGCGGCGCCCAGCCTACATCCACTGAGGACCCACTAGCCGCGTACGAGCAACCAAGTGGGAGGCGGCTTCCGGTTTCCCGGGTGGGCGGAGGGAAGGCGGGGCAAGCACAGCGAGCGTGCGCAATAGCGCAGTAGCGGCGCATGCCCATTTGGCTTCCCCCGTGACCTTCTCAGAAAGGGGAGGAGTCTGAGAGGCAGGGCGACTTTCAGGGGGTGGGGCTAAGACTTAGATGGGGCGGAGCCATCCTATCCGGGTCCCTGCCCCGATTTCAACCTCTTTATTCCTGGAATTTTTGTTTGTTTGTTTGAGATGGAGTCTCGCACTGTTTCCCGGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCACACCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTTTTTTTTTTTTCAGACAGGGTCTCACTCTGTTGCCCAGGCCGGTGTGCAGTCTTGGCTCACTGCAGCCTCGACTTCCCAGGCTCAAGCGATCCTCCCACCTCCAGAGTAGCTGGGACTACAGGCGTGTGAGCCACCATACCCGGGTAGTTTTTTTTTTTTTCTTTTTTTTGAGATGGAGTATCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCATCATGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAGCCACCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCATGAGCCACCGCGCCCGGCCACCCGGATAATTTTTTTAAAAAATTATTTGTAGAGATGGAGTCTGGCTATGTTGCCCAGGCTGGGCTCAAGCAATCATCCTGCTCCAACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTAGCCTCCCTAAGAATTTGTCAGTCTTATTATTCATCTCTGACGCTTACTGGCTTGAGTCAGCCCTTTCTGTCGCATACCGTGCAGCTTGCCCGAGGCTGCCCAGGTTTCTGCACTGAGAGTCCCAAACAAACTGGGCAGTTGGTGAATGAGCTGAGGTGATTTCAAGGGTGGCTGGCAAAGGTGCCATTCTTTTGTTCGTTCATTCATTCATTCATAAATACGAATGGAGTGGCTACTATGTGGCAGGCACCAAGTGCTGGGATGCTGCAGGGAATGAGCAAGCCAGGTGGTCACTGCTCATTGAATTTACTCTCTAGTGGTGGAGACGGCAAGTGAGCAGACAGCTAGACACTGTGAGCTCTGTTCTGTACGAGAGGGTGTGCCCAGAGAAGGACACCCAGTCCTTGGTGGCTTTGTTAGCCATTTAATATAAGAAACCATTTCTACTCTGTGCCAAACATTATGGTCCATTATCCCACTTAATCCCCACAGCAGTTCTGTGAAGAAAGTTTTTTGGTTTTGTTTTTTACTGAGTTTCCATTTTAGACATCTCAGCTTCTTTTTCCAGCCCCCTCCATGGATCTGCTCAGAGCTGGCCTCACTCTTGGGACTTACCTTGGGCAGGAGTGGCCTGGAGCCTCCAAGGCACCTGCCTCTTCAGTCACTCCACGCGTTTGTGTAGATTGTTAACCTTGCAGGTCCCGGGGTTTCGTAGGAGTGATTTTTTTTTCCCCTTTCTGTCTGCTTGTTTTGGACATGTGAAGGGCGCCTTTCTATAGTCTN
|
pathogenic
| 4,343 |
Determine whether the variant at chromosome 1, position 19220813, in gene EMC1 is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B', 'Congenital_anomaly_of_kidney_and_urinary_tract']
|
CTGGATCAGTCCTCAAGCCTCAGCTAAGGATGGATCCTATTTCTTCCCAGTGCAAAACACCAAATGTACCTATAAGGTGGAGTCGGCAAGGAGAGTTCCCCTCTTACTTTGAAGCAAGAGATGGAAAAAGTCAGAAAGATTTCTAGATAAAATTGAGAAACACAAAAGGCAAAGTAAAGTCAATTTAAACAGGCCTCACAAAAATCAGCCGGAATTCTTATTAAAAAAAACAAAACAGAACATTCATGGATGGGCAAAGAAAGGAAACAATGCAGACGCCTTTGGACTTCAAGAGAAAGCCCATCAGGAATCTCTGAGAGTGTCAGCTGAGAGAGTTCTGTCTCTCTCCATGTAGGATCCTTTCTGCATCATGTATATCCCAAAAGGAGTTCTGCGTGAAGGTCATCCATCTTCCCTACAGTTCTTAGCTGAGCACTGACACACACACATACTCCACCAATCCACCAAACTGCAGCTGTAGCTGCTTATCTGACCCACACTCCCCTGGCTCTCCACTTTTAGGCACAGTCTTTGTTCTTTATCGCCAGGCCCGATTCAGGAGCTTCACCTGTGCCAGTCTCTTAGTGATCATGGTGGCAAAAACCAGGCCAAAGAGGACGCTGCTGATTAACACGTAGTCATAGTCATCCTTCAGAACGTCAAACTGCTTGGATGGGTAGACTCGAGTTTGGTAAATGTCCAAACCATAGGCCACAACCTGGAAGGCAGATGGAATAAGAATTAGGAAAGAAACAACCAATGATCCACCAAGGGTGAAATAGGGCAGCTGTGGGCTCTACTCACCAAACAAGTGGACTCCAGACCCGAGGGAGCTGTGTAGATACCTCGCATTCGAGAAACTGTCTGGTTATAGTTGATGAATCGCTCTGCGTGTATCTGTACATCTGGAGAATACGGGATTAAGTTCTCCTCTCTGCAAAACACCAGCCGGGACAGGCAGTCTGAGCACTGCTGTAAAGGGATCTCTTGGCTGCCCTTCCTGAGTCCTGGGAGGTTTCCAGGCTACATATCTAGCCTCAAATCTCCTAGGAGGTCTGCTTGCATTAGGTAGTTAAAAATTTAGCAGCTGAATGTTAGGAAGGACTACAAGAAAGGAAGCTCTCTGGAGAGTAAGACTGAGATCTAGATTCCTACTTTGTTCTAAATCTGAAAAGAAAGAACATACAGATGACTGGCACTTCACACCACAAGAGGAAAGCCGACCATTTTAAAGCCAACACACTGAACCACTAAGCTAATTCCTGCTCTCCACTCCAGGGTGCCTCTCAGTCCCCATTTCTCTGAAACCTGATTATCATCCTGTGTCTTTTCCTAGCTTTAACCTCCTCTCTCTCATATACTTCTCCAAAACACACTCCTCTCCATTCCTCATGCCCCTAGGCAAAGAAATTCAGGATGGAGGTAAGAAAACCCGACAAGATGGTGGTTGTTAATACAACAATACCAACAGTGAATAAGATATTGGCTTGCCCACATGGTCTGGCCCGAATTACCTCAGTGATCTCATTTCCTAGCGTTGCCCTCCGCAAACTCACCAGACATGATCTCAGGGGATTTGCATTGCCTGTTCCCTCTGCCTAGAAAGTTCTTCCTCAGGTATCTACACAGCTAGCTCCTTCACCTCCTTCAGGCCTTCACTCAAAATGCACCTTCTCAAAGGGGCTTTCCCAGGCCACCTCTCAAATTACACCCACGCACATCCCCATCCCCACTTCCTAGCTCATTCCTGTTTTACTCTGCTTAGCATTTGAGTACCTAACATAGTATATATTTTACTTGTTTATCTTATGTATTTATTGTCCATTTCCCAGCAGACTGTAAGCTCCATGAGGGCAGGTGACTTTTTCAGACTTGCCCCCTGCTACATCCCCAGCCCCTAGCACAGCATGAAGGCACACAGAGACCAAGAACCAAGCTTAATCAGTGAGGTTAAGTTATGTAAGGTCAGAGCCTTCAGCACTGCCCATGAGGGTCTCACCTGCTTTGTTCTGTTGGGATCTCGGGGCGGCGGGGATCCAGCAAAGCCTTAGGAAGGGAAAGAATTGCTCCAGAAGGTAGTCCAACTACACAGGAGGAAGTGAATGTTCACACCGATCCAGTGTCCAGCAAGGGCCAGTTACAAAAATGTCATTATTGCAGACATTTAAATAAGAATTTAAAACAAAAAAATGGGTCAATGAGGCTCCCTTACATAGCCAAAAATAATAATCCAATGATACGCATGGGTCTGAATGAAGGTTCTCACTTTTGAAGACACTGGTTTCTTAACTTTCTGAGACACCAGAAAATAAAGTTCTAGAATCAAGATATGGATAATGATGAAAGAGAAAAATGTAGAAGGCCACTTGGATTTCCTCATGCCTCTCCCCGGGGCCTCCCTCCCATACCTCCCCCAGCAGGAAGTCTCCTTCCCATTGAGCAAACGCAGCTGTTCATGCAGCTGCGGTACAGTGGCCAGGGAAGACTGGAGGACCAGGCATGATCAATCATAGCACCAGTTTCAGTAATGGTGATTAAAGCTGATAAACTGCCAACAGGGCTGGCTTCTTCATATTTAAGAATTCAATAGGCCAGTCGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACTCCGTCTCTACCAAAAATTTAAAAATGAGCTGGGCACAGTGGCACGCACCTGTAGTCCCAGCTACTCAGCAGACTGAGGCAGGAGAATCACTTGAACCAGGGAGGCTGAAGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGCAACAGCAATGCCAAGTGCCCATCAGATCTGAGAGTCCCAAACATCTTCGGTAAAATCAACTAAACACAGGAACCTGTTAACCACTAAGTCCTAAGTCCTGGGCTTAGGTTACATAAGGATGAGATTTTAGGGCTGGCGCAGTGGCTCACACATATAATCCCAACACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTTAACTACTTGGGAGGCTGAGGAGGAGGATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAATAGACCCTGCCAGTTTCTGCAAGCTGTCAGCACAGGCTAGCTATGTTAACAATGCTATCAGGAACTGACTTTTTGAGCTAGGTGAAAATGCCAAATAGAGAGGTGGTATATCAGAAATGAGGACTGAAGGCCAGGCAGCCAGGCACGATGGCTCACACCTGTAATCCCAACACTTCAGGAGGCCAAGGCAGGAGGATCACATGAGCCCAGGAGTCTAGATCAGCCTGGGCAACATGGCAAATCCCTGTCTCTACCAAAAAAAATTTTTTTAATTAGCCAGGTGAGCTCAGGAGGTTGAGGCTGCAGTGAGTCATGATCACACCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAACAAAAAAAAGATGAGAACTGAGAGAGAAGTGGTCACCTTCATAGGTGGCAAAGATGAACTAAGAAACTTTTTCCACCGATATATAGCCCTCCTCACCACCTTTCCCTTACAGGTGGTTCAACAAGGCTCTGCCAGCAATGTGTCCCTTGCTCTGTCCTTAAGTGTGGTTGCCCAAGGGAACCCAGCCATCCCAGAGGCTCCCCAGTCACTCACTCAGCAGGTGTCGGCTGGTGATGCCCCGTTCGGTGATGGTGGCCTCCATGGCACTGATGGAGGACGGGAAGATATAGGACTGCTGGAGGACCTGGGGCAGCTGGGGGCGGTCCAGGGAGCTGAAGGCGGTGGCGTTGTATTGCTCAGTGCCCTCATAGAGCTCCAGTACGGTAAACTCGTTGCGCCGAGCCTTGGTGTTCCAGTACTGGTACTGCAGGGATAGGAGGTGGCAGCTCA
|
CTGGATCAGTCCTCAAGCCTCAGCTAAGGATGGATCCTATTTCTTCCCAGTGCAAAACACCAAATGTACCTATAAGGTGGAGTCGGCAAGGAGAGTTCCCCTCTTACTTTGAAGCAAGAGATGGAAAAAGTCAGAAAGATTTCTAGATAAAATTGAGAAACACAAAAGGCAAAGTAAAGTCAATTTAAACAGGCCTCACAAAAATCAGCCGGAATTCTTATTAAAAAAAACAAAACAGAACATTCATGGATGGGCAAAGAAAGGAAACAATGCAGACGCCTTTGGACTTCAAGAGAAAGCCCATCAGGAATCTCTGAGAGTGTCAGCTGAGAGAGTTCTGTCTCTCTCCATGTAGGATCCTTTCTGCATCATGTATATCCCAAAAGGAGTTCTGCGTGAAGGTCATCCATCTTCCCTACAGTTCTTAGCTGAGCACTGACACACACACATACTCCACCAATCCACCAAACTGCAGCTGTAGCTGCTTATCTGACCCACACTCCCCTGGCTCTCCACTTTTAGGCACAGTCTTTGTTCTTTATCGCCAGGCCCGATTCAGGAGCTTCACCTGTGCCAGTCTCTTAGTGATCATGGTGGCAAAAACCAGGCCAAAGAGGACGCTGCTGATTAACACGTAGTCATAGTCATCCTTCAGAACGTCAAACTGCTTGGATGGGTAGACTCGAGTTTGGTAAATGTCCAAACCATAGGCCACAACCTGGAAGGCAGATGGAATAAGAATTAGGAAAGAAACAACCAATGATCCACCAAGGGTGAAATAGGGCAGCTGTGGGCTCTACTCACCAAACAAGTGGACTCCAGACCCGAGGGAGCTGTGTAGATACCTCGCATTCGAGAAACTGTCTGGTTATAGTTGATGAATCGCTCTGCGTGTATCTGTACATCTGGAGAATACGGGATTAAGTTCTCCTCTCTGCAAAACACCAGCCGGGACAGGCAGTCTGAGCACTGCTGTAAAGGGATCTCTTGGCTGCCCTTCCTGAGTCCTGGGAGGTTTCCAGGCTACATATCTAGCCTCAAATCTCCTAGGAGGTCTGCTTGCATTAGGTAGTTAAAAATTTAGCAGCTGAATGTTAGGAAGGACTACAAGAAAGGAAGCTCTCTGGAGAGTAAGACTGAGATCTAGATTCCTACTTTGTTCTAAATCTGAAAAGAAAGAACATACAGATGACTGGCACTTCACACCACAAGAGGAAAGCCGACCATTTTAAAGCCAACACACTGAACCACTAAGCTAATTCCTGCTCTCCACTCCAGGGTGCCTCTCAGTCCCCATTTCTCTGAAACCTGATTATCATCCTGTGTCTTTTCCTAGCTTTAACCTCCTCTCTCTCATATACTTCTCCAAAACACACTCCTCTCCATTCCTCATGCCCCTAGGCAAAGAAATTCAGGATGGAGGTAAGAAAACCCGACAAGATGGTGGTTGTTAATACAACAATACCAACAGTGAATAAGATATTGGCTTGCCCACATGGTCTGGCCCGAATTACCTCAGTGATCTCATTTCCTAGCGTTGCCCTCCGCAAACTCACCAGACATGATCTCAGGGGATTTGCATTGCCTGTTCCCTCTGCCTAGAAAGTTCTTCCTCAGGTATCTACACAGCTAGCTCCTTCACCTCCTTCAGGCCTTCACTCAAAATGCACCTTCTCAAAGGGGCTTTCCCAGGCCACCTCTCAAATTACACCCACGCACATCCCCATCCCCACTTCCTAGCTCATTCCTGTTTTACTCTGCTTAGCATTTGAGTACCTAACATAGTATATATTTTACTTGTTTATCTTATGTATTTATTGTCCATTTCCCAGCAGACTGTAAGCTCCATGAGGGCAGGTGACTTTTTCAGACTTGCCCCCTGCTACATCCCCAGCCCCTAGCACAGCATGAAGGCACACAGAGACCAAGAACCAAGCTTAATCAGTGAGGTTAAGTTATGTAAGGTCAGAGCCTTCAGCACTGCCCATGAGGGTCTCACCTGCTTTGTTCTGTTGGGATCTCGGGGCGGCGGGGATCCAGCAAAGCCTTAGGGAAAGAATTGCTCCAGAAGGTAGTCCAACTACACAGGAGGAAGTGAATGTTCACACCGATCCAGTGTCCAGCAAGGGCCAGTTACAAAAATGTCATTATTGCAGACATTTAAATAAGAATTTAAAACAAAAAAATGGGTCAATGAGGCTCCCTTACATAGCCAAAAATAATAATCCAATGATACGCATGGGTCTGAATGAAGGTTCTCACTTTTGAAGACACTGGTTTCTTAACTTTCTGAGACACCAGAAAATAAAGTTCTAGAATCAAGATATGGATAATGATGAAAGAGAAAAATGTAGAAGGCCACTTGGATTTCCTCATGCCTCTCCCCGGGGCCTCCCTCCCATACCTCCCCCAGCAGGAAGTCTCCTTCCCATTGAGCAAACGCAGCTGTTCATGCAGCTGCGGTACAGTGGCCAGGGAAGACTGGAGGACCAGGCATGATCAATCATAGCACCAGTTTCAGTAATGGTGATTAAAGCTGATAAACTGCCAACAGGGCTGGCTTCTTCATATTTAAGAATTCAATAGGCCAGTCGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACTCCGTCTCTACCAAAAATTTAAAAATGAGCTGGGCACAGTGGCACGCACCTGTAGTCCCAGCTACTCAGCAGACTGAGGCAGGAGAATCACTTGAACCAGGGAGGCTGAAGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGCAACAGCAATGCCAAGTGCCCATCAGATCTGAGAGTCCCAAACATCTTCGGTAAAATCAACTAAACACAGGAACCTGTTAACCACTAAGTCCTAAGTCCTGGGCTTAGGTTACATAAGGATGAGATTTTAGGGCTGGCGCAGTGGCTCACACATATAATCCCAACACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCACGCCTGTTAACTACTTGGGAGGCTGAGGAGGAGGATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAATAGACCCTGCCAGTTTCTGCAAGCTGTCAGCACAGGCTAGCTATGTTAACAATGCTATCAGGAACTGACTTTTTGAGCTAGGTGAAAATGCCAAATAGAGAGGTGGTATATCAGAAATGAGGACTGAAGGCCAGGCAGCCAGGCACGATGGCTCACACCTGTAATCCCAACACTTCAGGAGGCCAAGGCAGGAGGATCACATGAGCCCAGGAGTCTAGATCAGCCTGGGCAACATGGCAAATCCCTGTCTCTACCAAAAAAAATTTTTTTAATTAGCCAGGTGAGCTCAGGAGGTTGAGGCTGCAGTGAGTCATGATCACACCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCTGTCTCGAAAAACAAAAAAAAGATGAGAACTGAGAGAGAAGTGGTCACCTTCATAGGTGGCAAAGATGAACTAAGAAACTTTTTCCACCGATATATAGCCCTCCTCACCACCTTTCCCTTACAGGTGGTTCAACAAGGCTCTGCCAGCAATGTGTCCCTTGCTCTGTCCTTAAGTGTGGTTGCCCAAGGGAACCCAGCCATCCCAGAGGCTCCCCAGTCACTCACTCAGCAGGTGTCGGCTGGTGATGCCCCGTTCGGTGATGGTGGCCTCCATGGCACTGATGGAGGACGGGAAGATATAGGACTGCTGGAGGACCTGGGGCAGCTGGGGGCGGTCCAGGGAGCTGAAGGCGGTGGCGTTGTATTGCTCAGTGCCCTCATAGAGCTCCAGTACGGTAAACTCGTTGCGCCGAGCCTTGGTGTTCCAGTACTGGTACTGCAGGGATAGGAGGTGGCAGCTCANNNN
|
pathogenic
| 4,472 |
Benign or pathogenic: chromosome 1, position 20648990, gene PINK1 variant? Disease(s) if pathogenic?
|
pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_6']
|
CCATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCGTGCCTCCGCCTCCTGAGTAGCTAGGATTACAGGCAGGTGCCACCACGCCTAGCTAATTTTTGATTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTACCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACTTCGTGATCCACCTGCTTCGGCCTCCCAAAGCGCTGGGATTATTATTTTTAGTGGAGATGGGGTTTCACTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTCCAAAATGTTGGGATTACAGGTATGAGCCACCACGCCCAGCTGGGAGTTGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCCCTGCCTATCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCACTACACCTGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGATCTGGAACTCCTGACTTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAGGAACTGGCTTTTTAAAGGAATTTTGTGTGGACCCTTTTACAAATAACCAATTCTTTTTTTATTTTTTCTGAGACAGAGTCTCGCTGTGTTGCTCAGGCTGAAGTGATTCTCCTGTCTCAGCCTCCTTCACCTCCCAGGTTCAAGTAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATACAGGCACACACCACCATGCCTGGCTAGTTTTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAATGTTGGCATTACAGGCCACCACACCCGGCAATAACTGATTCTTAATGCACCTGGTTCTTAGGTTTGGATTTGGGGTTTCAAATTCAAATCAAAGTCTCCTGGGGTATAAGGGCCCTTGGAGATCATTTGAACCAAGCTCTAGCTCCTTTGGTCTTGGGGACAGCTCCAATTACTAGAACATGATTTAAATTGAGCCACACAGTCCTTTGCCTGGGGATTTTGCAGCCTGTACTTACTGGAGGCATTTCCGTGTTCGCACAGCAGGCCCTTCTGATCAGCTCTCAGGCCTTGCTGACCTCCTGGGCCAACACTGAGCCATTAGCCCCTGTCAGCTATGTCTTGCTGGTGGCTTTAGTAGGGACATAGGAGGGCCTCTCAGAGGGAAGGAGGGGAGGAGAAATGGTCACTTTGCTTGCTCCTTCCCAGACGGCTGCCCCTGGCTGGTGATCGCAGATTTTGGCTGCTGCCTGGCTGATGAGAGCATCGGCCTGCAGTTGCCCTTCAGCAGCTGGTACGTGGATCGGGGCGGAAACGGCTGTCTGATGGCCCCAGAGGTGAGTCCCGAGTGTGTCATGCGCCATCGGCAGCCCTTCCCCCACATGTCCACTGAATGCAGGAGACTCGATGCCTTGTGATAACCCAACACCTCCATCTTTTCTGACCCATAATTTGGCACAAGTTCCTTCCCTGCCACTTTGCTTTCCTCCGGCGTTCCCTCATGTTCCAGGAGAATGCAAGTCCTGTCACATAAACCAGGTGGTCTAAGCAGACCCCTTCTGGGTCTGAGCCACAGCTCACTCAAGCTCTGGGTTCCTTGGGACAGAGTTCAGATTAGCCCATGGATCAGGTGATGTGCAGGACATGAAAAGGTTAGATGGGCGGGCAGCGTGATGTCTCACCCACTGCTTCTGAGCAGGTGTCCACGGCCCGTCCTGGCCCCAGGGCAGTGATTGACTACAGCAAGGCTGATGCCTGGGCAGTGGGAGCCATCGCCTATGAAATCTTCGGGCTTGTCAATCCCTTCTACGGCCAGGGCAAGGCCCACCTTGAAAGCCGCAGCTACCAAGAGGCTCAGCTACCTGCACTGCCCGAGTCAGTGCCTCCAGACGTGAGACAGTTGGTGAGGGCACTGCTCCAGCGAGAGGCCAGCAAGGTGAGGCTGTCCCCGGCTTCGAGGGGACGGTGTGGGTAGAAACCTCTGTTCTCGTTCCAGAGTGAAGGTCAGGTTTGGGCCAGAGCCACAGTGACAGATCCTCTGTGTTAGGAAGGTAAAGGCTAGTTACAAGAGAACAAAAAACAGATTTTAATGTAGGTAGGAGTAGGAGCACTAGCCACCACAGCATAGTCAGAATCCTAGCAGTTCAACTCCTGTGGCTTTTTTAGTTGCTGAAAAAGTTGTTCAGAGGCCAGACACGGTGGCTTACACCTATAATCACAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGGGACCAGGAGTTCCAGTCCAGCCTGGCCAACATGGTAAAACCCCGTCTGTACTAAAAATACAAAAATTAGCTGAGTGTCGTGGCACACGCCTGTAATTCCAGGTACTCGGGAGGCTGAAGCAGGAGAATCGTTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCTGGCCTAGGTGACAGTGCAAGTCTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGCTATTCAGAGAGAGAAAAGGAGGCATTTTTGAGAAATGTTTAATGGAGATGTAGCTCATGGAAGCAGCTGAGAACTGATCAGAGAGAGATGGAAAACATCTCCTGAGAGCAGATCTGGACATTGTGAAATTAATATAAAGGAATGCAAAGGCAGACCTATCCGAAGCCATAATTGGAGTGGCAGCTGGCTCAGGGGCAGGCTTAGTGCAAAGAGCTGAGCCATACCTGCACCCCAGCACTGTTCTGCCACTCCGTTAACTGCTCTCTGTACGTGGCCTGCTATCTTGGTGCGCAGTGAAGGTTAGAACAACAGCTGCAACCAGTTATGAAATGATAGAGGAGACTACTTACCTGGTTCAAGGGACCAGATAGCTGTGCACAAGAGGCACTAGGCTTTCCACCCAGGGGGAAAGGCTATTTCAACAATGCATGCTGCCCCATGCAGAGGTGTACACATGGAAAAGCTTGGAGCACGGGCAGGGGACAGGCAGTATTTGTCACCTGAGTGAAGGGCATCAGTAGGAGATAGGGTAGAGGAAGAATTGGGTTGGGACCAGAGAAGGGAAGACCCTCACTAACAAAGCAGGCTTTGGGTTGAGACTGTGTTAACAGATGTTCTAGCTACAGCTTCCCTTCCTGTTGCAGAGACCATCTGCCCGAGTAGCCGCAAATGTGCTTCATCTAAGCCTCTGGGGTGAACATATTCTAGCCCTGAAGAATCTGAAGTTAGACAAGATGGTTGGCTGGCTCCTCCAACAATCGGCCGCCACTTTGTTGGCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCTAACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCCCTGTGATGTCCCTGCATGGAGCTGGTGAATTACTAAAAGAACATGGCATCCTCTGTGTCGTGATGGTCTGTGAATGGTGAGGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGA
|
CCATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCGTGCCTCCGCCTCCTGAGTAGCTAGGATTACAGGCAGGTGCCACCACGCCTAGCTAATTTTTGATTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTACCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCTATCTCCTGACTTCGTGATCCACCTGCTTCGGCCTCCCAAAGCGCTGGGATTATTATTTTTAGTGGAGATGGGGTTTCACTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTCCAAAATGTTGGGATTACAGGTATGAGCCACCACGCCCAGCTGGGAGTTGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCCCTGCCTATCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACGCCACTACACCTGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGATCTGGAACTCCTGACTTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAGGAACTGGCTTTTTAAAGGAATTTTGTGTGGACCCTTTTACAAATAACCAATTCTTTTTTTATTTTTTCTGAGACAGAGTCTCGCTGTGTTGCTCAGGCTGAAGTGATTCTCCTGTCTCAGCCTCCTTCACCTCCCAGGTTCAAGTAATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATACAGGCACACACCACCATGCCTGGCTAGTTTTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAATGTTGGCATTACAGGCCACCACACCCGGCAATAACTGATTCTTAATGCACCTGGTTCTTAGGTTTGGATTTGGGGTTTCAAATTCAAATCAAAGTCTCCTGGGGTATAAGGGCCCTTGGAGATCATTTGAACCAAGCTCTAGCTCCTTTGGTCTTGGGGACAGCTCCAATTACTAGAACATGATTTAAATTGAGCCACACAGTCCTTTGCCTGGGGATTTTGCAGCCTGTACTTACTGGAGGCATTTCCGTGTTCGCACAGCAGGCCCTTCTGATCAGCTCTCAGGCCTTGCTGACCTCCTGGGCCAACACTGAGCCATTAGCCCCTGTCAGCTATGTCTTGCTGGTGGCTTTAGTAGGGACATAGGAGGGCCTCTCAGAGGGAAGGAGGGGAGGAGAAATGGTCACTTTGCTTGCTCCTTCCCAGACGGCTGCCCCTGGCTGGTGATCGCAGATTTTGGCTGCTGCCTGGCTGATGAGAGCATCGGCCTGCAGTTGCCCTTCAGCAGCTGGTACGTGGATCGGGGCGGAAACGGCTGTCTGATGGCCCCAGAGGTGAGTCCCGAGTGTGTCATGCGCCATCGGCAGCCCTTCCCCCACATGTCCACTGAATGCAGGAGACTCGATGCCTTGTGATAACCCAACACCTCCATCTTTTCTGACCCATAATTTGGCACAAGTTCCTTCCCTGCCACTTTGCTTTCCTCCGGCGTTCCCTCATGTTCCAGGAGAATGCAAGTCCTGTCACATAAACCAGGTGGTCTAAGCAGACCCCTTCTGGGTCTGAGCCACAGCTCACTCAAGCTCTGGGTTCCTTGGGACAGAGTTCAGATTAGCCCATGGATCAGGTGATGTGCAGGACATGAAAAGGTTAGATGGGCGGGCAGCGTGATGTCTCACCCACTGCTTCTGAGCCCCAGGGCAGTGATTGACTACAGCAAGGCTGATGCCTGGGCAGTGGGAGCCATCGCCTATGAAATCTTCGGGCTTGTCAATCCCTTCTACGGCCAGGGCAAGGCCCACCTTGAAAGCCGCAGCTACCAAGAGGCTCAGCTACCTGCACTGCCCGAGTCAGTGCCTCCAGACGTGAGACAGTTGGTGAGGGCACTGCTCCAGCGAGAGGCCAGCAAGGTGAGGCTGTCCCCGGCTTCGAGGGGACGGTGTGGGTAGAAACCTCTGTTCTCGTTCCAGAGTGAAGGTCAGGTTTGGGCCAGAGCCACAGTGACAGATCCTCTGTGTTAGGAAGGTAAAGGCTAGTTACAAGAGAACAAAAAACAGATTTTAATGTAGGTAGGAGTAGGAGCACTAGCCACCACAGCATAGTCAGAATCCTAGCAGTTCAACTCCTGTGGCTTTTTTAGTTGCTGAAAAAGTTGTTCAGAGGCCAGACACGGTGGCTTACACCTATAATCACAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGGGACCAGGAGTTCCAGTCCAGCCTGGCCAACATGGTAAAACCCCGTCTGTACTAAAAATACAAAAATTAGCTGAGTGTCGTGGCACACGCCTGTAATTCCAGGTACTCGGGAGGCTGAAGCAGGAGAATCGTTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCTGGCCTAGGTGACAGTGCAAGTCTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGCTATTCAGAGAGAGAAAAGGAGGCATTTTTGAGAAATGTTTAATGGAGATGTAGCTCATGGAAGCAGCTGAGAACTGATCAGAGAGAGATGGAAAACATCTCCTGAGAGCAGATCTGGACATTGTGAAATTAATATAAAGGAATGCAAAGGCAGACCTATCCGAAGCCATAATTGGAGTGGCAGCTGGCTCAGGGGCAGGCTTAGTGCAAAGAGCTGAGCCATACCTGCACCCCAGCACTGTTCTGCCACTCCGTTAACTGCTCTCTGTACGTGGCCTGCTATCTTGGTGCGCAGTGAAGGTTAGAACAACAGCTGCAACCAGTTATGAAATGATAGAGGAGACTACTTACCTGGTTCAAGGGACCAGATAGCTGTGCACAAGAGGCACTAGGCTTTCCACCCAGGGGGAAAGGCTATTTCAACAATGCATGCTGCCCCATGCAGAGGTGTACACATGGAAAAGCTTGGAGCACGGGCAGGGGACAGGCAGTATTTGTCACCTGAGTGAAGGGCATCAGTAGGAGATAGGGTAGAGGAAGAATTGGGTTGGGACCAGAGAAGGGAAGACCCTCACTAACAAAGCAGGCTTTGGGTTGAGACTGTGTTAACAGATGTTCTAGCTACAGCTTCCCTTCCTGTTGCAGAGACCATCTGCCCGAGTAGCCGCAAATGTGCTTCATCTAAGCCTCTGGGGTGAACATATTCTAGCCCTGAAGAATCTGAAGTTAGACAAGATGGTTGGCTGGCTCCTCCAACAATCGGCCGCCACTTTGTTGGCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCTAACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCCCTGTGATGTCCCTGCATGGAGCTGGTGAATTACTAAAAGAACATGGCATCCTCTGTGTCGTGATGGTCTGTGAATGGTGAGGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGANNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 4,565 |
Determine if the mutation at chromosome 1, position 20652604 in gene DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
CACTTTGTTGGCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCTAACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCCCTGTGATGTCCCTGCATGGAGCTGGTGAATTACTAAAAGAACATGGCATCCTCTGTGTCGTGATGGTCTGTGAATGGTGAGGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCGTAGCATGTCTGATTTGCCACCTGGATGAAGGCAGACATCAACATGGGTCAGCACGTTCAGTTACGGGAGTGGGAAATTACATGAGGCCTGGGCCTCTGCGTTCCCAAGCTGTGCGTTCTGGACCAGCTACTGAATTATTAATCTCACTTAGCGAAAGTGACGGATGAGCAGTAAGTAAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGACTAGCCTCTCTTACAGGAATTGTGAAATATTAAATGCAAATTTACAACTGCAGATGACGTATGTGCCTTGAACTGAATATTTGGCTTTAAGAATGATTCTTATACTCTGAAGGTGAGAATATTTTGTGGGCAGGTATCAACATTGGGGAAGAGATTTCATGTCTAACTAACTAACTTTATACATGATTTTTAGGAAGCTATTGCCTAAATCAGCGTCAACATGCAGTAAAGGTTGTCTTCAACTGAGCTGTTCTAGTTTTCTCTTCCCCAGCACTGTCATCTAGATTTTCCATTTCAGTGATTCCCACCCCTCGGTCTACTAGCAACAACAACTTTCTTGTATCCTTTGAGGAGACGTTAGGGAGAACCATCATTTCACAGTTAAAAGAAAGACAGTCCAGTCCTAGGCAAAATTTCATGAAGCCACTTAGGATTTTGTATCCAGTCAGTCATCACCCACAGCAACCCCCACCCACAGCCATTAGCAAACCAGGACCGGGGCCAGGTGAAGTTTGAGGGCAACATCTCGCTTTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATATTTGAGACAGAGTCTTAACACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCTTGGATTCATGCCTTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCACGTCCCTATTTTAGAAATGAGAGGAGTGACTGCACATAGGAAAAATGCCACTTTTAGCAATTCAAAGTGGAAAAACTTCTTTTATATAAAAATTATCCCAACTCCCACCCCTTGGCTCTCAGTGTTGCATCTCCCACAGAGGTAAAGTTGTGCCATTTTCCCACGGCTTTAAACAAAGCAAAACAAAACCACCAATCCTAATAACCCCCCTCCTTGCCCCGTCTCCACGCTGTGCGGAGAGGGCTCTAGCCCCTCAGTCGGACTTCTCCTTCTCCTTCATGTGCAAGAAGACGATGCTGAAGATGAAGAGCCCCAGCATCATGGAGAAGGCGCTGGCGTAGTAGGGGTAGGCCGAGGGGATGAAGCGCTCATACTGCGTGTGCTGGAGTGGCCGCACGGATACCTGCAGGAGGACAGAGGTGGCAGGACCTGGCCACTGCAGAGCCCAGGCAGGGCACATGCTAGCTGAAAACAGAAGCTGTCACCTGTGCTTACCTGAGTGGAAGAGTACAGGTGTGTGTAGCCTAGCCGGTTGTAATCCACTTTAAACTGGAATACACCATACACGTCGGGCAACTTGAACTGAACACTGTATTTGCCACCTGCGGAAGAACCAACAAGAATAACCGGGAGGGGTTTCCCAGAGCTTTTCCTGGTTGGGCCTCGAGAGCAAGTGAGGCCTGGGGCCGTTTCTGGCAGCATCCTCGTGCAGGAACTACACTCACCTTTCTTCTTCAGGAAGGTCCTCACAAAAGGATCAATGCGGACAAACTCCAGCTGAATGTCATCGCCATCAAAGGGGACCCATTTGCCATTTGAGAGCTGCTGGATCACGATGCTATACTCCTGAGATAAAAGGCCAGGTTAGCCAGGGCTGGCCATGACTGGAGGCCTTCCACCACCTGCAGGCAGAGCTGCACTTAATTCCCACCCGACGAACATGGCAGGAATGCCCAGGAGTTCAGAAGACCTGCAGATGCCCCTGCCACCCGGCCCTGATCAGTAACCAGTCTCTCTCCTCAGCAAGGTTAATCCCCCAACACAGCATCTCTGCCTCTTCTCTGAAGGCCTAGATTCCTTCACACAGTATTCATGGCCCATCAAAGTCTGGACCCAAACCACCCTCCTGCCCCGACATGTGCCAGGCACTTTCAAGTATTCATGCTTCCATATTCGCTTTCTCTTGCCTAACAAATTCAACCTAATGACCTATTTCTCTTATTAAGTCCAACTTCCTGGGCAGAGTTAATCAGTGAAGCCCCTCCCACTGCTGCCCCCCATAGCAAATACACACACCTCTTCAAAAGAAGTGCTCCTATTAGGACATCAGTTTTCACGCCAGGCTCTGCATCTCACCTGGCATGCTTAGGTGTAGGGATTAACTTATTCATCTTTATTTATGCCCTTTAGGCCAGCAAAGAAGTGTTCAATAAGTGCTTCTGAGCTGAGCTCAGTCAGCTTGGCAAACCCTTTGGGCCCTCCCACCCCAAACATCTCTTACCACTAGGTCAGTGACAGTGTAGGCATTGGGTGGGGCTGTCTCGCCCACCCGATGATGGGACACAGGCCCCACACGGAGGACACCCTCCTCCTTGAACACCCAGCGGGAGAGGGCCACAGCTAGTTCATAGTTGCCTGTCTGGGAATACCTGCAGGAGGGAAACAGGAGCAGCTTGGGCACCAGAGCCACCTTTCCAGTGGTGCCTGATGGGCAGGACCACTCATGTCCACCATGACAGTACCCTAGCGAAGTTCTGCCTGTAGGCCTTGGGCACCTAGGGACTCATGGTTAAAGGGAACGCAGGAAACAAACGAAAAGATATGGCTGGTTGCTTGTCATCTGCACAACAAATACACAAATTTCTAAAAGGAACGGTGGAGGTTAGGGATCTCTAGATAAGTCACTACTACCTTAAAAAATTGGAAGTGCCAATACCAGCAATATAGCAATAAAGCCCTGAAATAATCTGACAGCACCTGAAACACTCAGCCTCTGACACTTTTAGCTAAAAGCCTCCTTCTTCCCCTTCTGAGTCCTCCCCATATACACACACTGCACCACCCGGATCCCCGGCCCCTAAGCCTCCTGGCAGCTACCTCTGGGAGCCGGGCGCCGCCTTCTGCACTGCTGAGTTGAAGAAGGAGTCGCTGAAGAAGTCGAGGGAGCCGCTGAAGATGACGCGGGCATTGTTCCTGGCCTGGAGCCCAGCAATGAGGAGGGTGTTCTTCCCCACCGCATGTGGATACTGGGAACAAAACGAGGCTGTGACCCAAGCAGTTCCAAGTAAGGGAAAAGCTGCCACGCCTCCCGAACAAGAGGACAGCAGGCCAGACCAAAACGACCCTGGCCCTACCTGAAGGGGGAGCCTGAGACCACACCGCTTCTGCCCATGCCCCACCCCACCAACTAGTCATTTCCTTCGCCTCAGCCAAATGTGCTGTTCTGCTTCATTTTTATTTCGAAGCCTCAAGGTTGTGAAGCCCTTACCTGGGTGATAGGCTTGTCCGGGAAGAAGGAGTAAGAGG
|
CACTTTGTTGGCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCTAACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCCCTGTGATGTCCCTGCATGGAGCTGGTGAATTACTAAAAGAACATGGCATCCTCTGTGTCGTGATGGTCTGTGAATGGTGAGGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCGTAGCATGTCTGATTTGCCACCTGGATGAAGGCAGACATCAACATGGGTCAGCACGTTCAGTTACGGGAGTGGGAAATTACATGAGGCCTGGGCCTCTGCGTTCCCAAGCTGTGCGTTCTGGACCAGCTACTGAATTATTAATCTCACTTAGCGAAAGTGACGGATGAGCAGTAAGTAAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGACTAGCCTCTCTTACAGGAATTGTGAAATATTAAATGCAAATTTACAACTGCAGATGACGTATGTGCCTTGAACTGAATATTTGGCTTTAAGAATGATTCTTATACTCTGAAGGTGAGAATATTTTGTGGGCAGGTATCAACATTGGGGAAGAGATTTCATGTCTAACTAACTAACTTTATACATGATTTTTAGGAAGCTATTGCCTAAATCAGCGTCAACATGCAGTAAAGGTTGTCTTCAACTGAGCTGTTCTAGTTTTCTCTTCCCCAGCACTGTCATCTAGATTTTCCATTTCAGTGATTCCCACCCCTCGGTCTACTAGCAACAACAACTTTCTTGTATCCTTTGAGGAGACGTTAGGGAGAACCATCATTTCACAGTTAAAAGAAAGACAGTCCAGTCCTAGGCAAAATTTCATGAAGCCACTTAGGATTTTGTATCCAGTCAGTCATCACCCACAGCAACCCCCACCCACAGCCATTAGCAAACCAGGACCGGGGCCAGGTGAAGTTTGAGGGCAACATCTCGCTTTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATATTTGAGACAGAGTCTTAACACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCTTGGATTCATGCCTTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCACGTCCCTATTTTAGAAATGAGAGGAGTGACTGCACATAGGAAAAATGCCACTTTTAGCAATTCAAAGTGGAAAAACTTCTTTTATATAAAAATTATCCCAACTCCCACCCCTTGGCTCTCAGTGTTGCATCTCCCACAGAGGTAAAGTTGTGCCATTTTCCCACGGCTTTAAACAAAGCAAAACAAAACCACCAATCCTAATAACCCCCCTCCTTGCCCCGTCTCCACGCTGTGCGGAGAGGGCTCTAGCCCCTCAGTCGGACTTCTCCTTCTCCTTCATGTGCAAGAAGACGATGCTGAAGATGAAGAGCCCCAGCATCATGGAGAAGGCGCTGGCGTAGTAGGGGTAGGCCGAGGGGATGAAGCGCTCATACTGCGTGTGCTGGAGTGGCCGCACGGATACCTGCAGGAGGACAGAGGTGGCAGGACCTGGCCACTGCAGAGCCCAGGCAGGGCACATGCTAGCTGAAAACAGAAGCTTGTCACCTGTGCTTACCTGAGTGGAAGAGTACAGGTGTGTGTAGCCTAGCCGGTTGTAATCCACTTTAAACTGGAATACACCATACACGTCGGGCAACTTGAACTGAACACTGTATTTGCCACCTGCGGAAGAACCAACAAGAATAACCGGGAGGGGTTTCCCAGAGCTTTTCCTGGTTGGGCCTCGAGAGCAAGTGAGGCCTGGGGCCGTTTCTGGCAGCATCCTCGTGCAGGAACTACACTCACCTTTCTTCTTCAGGAAGGTCCTCACAAAAGGATCAATGCGGACAAACTCCAGCTGAATGTCATCGCCATCAAAGGGGACCCATTTGCCATTTGAGAGCTGCTGGATCACGATGCTATACTCCTGAGATAAAAGGCCAGGTTAGCCAGGGCTGGCCATGACTGGAGGCCTTCCACCACCTGCAGGCAGAGCTGCACTTAATTCCCACCCGACGAACATGGCAGGAATGCCCAGGAGTTCAGAAGACCTGCAGATGCCCCTGCCACCCGGCCCTGATCAGTAACCAGTCTCTCTCCTCAGCAAGGTTAATCCCCCAACACAGCATCTCTGCCTCTTCTCTGAAGGCCTAGATTCCTTCACACAGTATTCATGGCCCATCAAAGTCTGGACCCAAACCACCCTCCTGCCCCGACATGTGCCAGGCACTTTCAAGTATTCATGCTTCCATATTCGCTTTCTCTTGCCTAACAAATTCAACCTAATGACCTATTTCTCTTATTAAGTCCAACTTCCTGGGCAGAGTTAATCAGTGAAGCCCCTCCCACTGCTGCCCCCCATAGCAAATACACACACCTCTTCAAAAGAAGTGCTCCTATTAGGACATCAGTTTTCACGCCAGGCTCTGCATCTCACCTGGCATGCTTAGGTGTAGGGATTAACTTATTCATCTTTATTTATGCCCTTTAGGCCAGCAAAGAAGTGTTCAATAAGTGCTTCTGAGCTGAGCTCAGTCAGCTTGGCAAACCCTTTGGGCCCTCCCACCCCAAACATCTCTTACCACTAGGTCAGTGACAGTGTAGGCATTGGGTGGGGCTGTCTCGCCCACCCGATGATGGGACACAGGCCCCACACGGAGGACACCCTCCTCCTTGAACACCCAGCGGGAGAGGGCCACAGCTAGTTCATAGTTGCCTGTCTGGGAATACCTGCAGGAGGGAAACAGGAGCAGCTTGGGCACCAGAGCCACCTTTCCAGTGGTGCCTGATGGGCAGGACCACTCATGTCCACCATGACAGTACCCTAGCGAAGTTCTGCCTGTAGGCCTTGGGCACCTAGGGACTCATGGTTAAAGGGAACGCAGGAAACAAACGAAAAGATATGGCTGGTTGCTTGTCATCTGCACAACAAATACACAAATTTCTAAAAGGAACGGTGGAGGTTAGGGATCTCTAGATAAGTCACTACTACCTTAAAAAATTGGAAGTGCCAATACCAGCAATATAGCAATAAAGCCCTGAAATAATCTGACAGCACCTGAAACACTCAGCCTCTGACACTTTTAGCTAAAAGCCTCCTTCTTCCCCTTCTGAGTCCTCCCCATATACACACACTGCACCACCCGGATCCCCGGCCCCTAAGCCTCCTGGCAGCTACCTCTGGGAGCCGGGCGCCGCCTTCTGCACTGCTGAGTTGAAGAAGGAGTCGCTGAAGAAGTCGAGGGAGCCGCTGAAGATGACGCGGGCATTGTTCCTGGCCTGGAGCCCAGCAATGAGGAGGGTGTTCTTCCCCACCGCATGTGGATACTGGGAACAAAACGAGGCTGTGACCCAAGCAGTTCCAAGTAAGGGAAAAGCTGCCACGCCTCCCGAACAAGAGGACAGCAGGCCAGACCAAAACGACCCTGGCCCTACCTGAAGGGGGAGCCTGAGACCACACCGCTTCTGCCCATGCCCCACCCCACCAACTAGTCATTTCCTTCGCCTCAGCCAAATGTGCTGTTCTGCTTCATTTTTATTTCGAAGCCTCAAGGTTGTGAAGCCCTTACCTGGGTGATAGGCTTGTCCGGGAAGAAGGAGTAAGAG
|
benign
| 4,595 |
Is chromosome 1, position 20652814, gene DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
GGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCGTAGCATGTCTGATTTGCCACCTGGATGAAGGCAGACATCAACATGGGTCAGCACGTTCAGTTACGGGAGTGGGAAATTACATGAGGCCTGGGCCTCTGCGTTCCCAAGCTGTGCGTTCTGGACCAGCTACTGAATTATTAATCTCACTTAGCGAAAGTGACGGATGAGCAGTAAGTAAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGACTAGCCTCTCTTACAGGAATTGTGAAATATTAAATGCAAATTTACAACTGCAGATGACGTATGTGCCTTGAACTGAATATTTGGCTTTAAGAATGATTCTTATACTCTGAAGGTGAGAATATTTTGTGGGCAGGTATCAACATTGGGGAAGAGATTTCATGTCTAACTAACTAACTTTATACATGATTTTTAGGAAGCTATTGCCTAAATCAGCGTCAACATGCAGTAAAGGTTGTCTTCAACTGAGCTGTTCTAGTTTTCTCTTCCCCAGCACTGTCATCTAGATTTTCCATTTCAGTGATTCCCACCCCTCGGTCTACTAGCAACAACAACTTTCTTGTATCCTTTGAGGAGACGTTAGGGAGAACCATCATTTCACAGTTAAAAGAAAGACAGTCCAGTCCTAGGCAAAATTTCATGAAGCCACTTAGGATTTTGTATCCAGTCAGTCATCACCCACAGCAACCCCCACCCACAGCCATTAGCAAACCAGGACCGGGGCCAGGTGAAGTTTGAGGGCAACATCTCGCTTTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATATTTGAGACAGAGTCTTAACACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCTTGGATTCATGCCTTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCACGTCCCTATTTTAGAAATGAGAGGAGTGACTGCACATAGGAAAAATGCCACTTTTAGCAATTCAAAGTGGAAAAACTTCTTTTATATAAAAATTATCCCAACTCCCACCCCTTGGCTCTCAGTGTTGCATCTCCCACAGAGGTAAAGTTGTGCCATTTTCCCACGGCTTTAAACAAAGCAAAACAAAACCACCAATCCTAATAACCCCCCTCCTTGCCCCGTCTCCACGCTGTGCGGAGAGGGCTCTAGCCCCTCAGTCGGACTTCTCCTTCTCCTTCATGTGCAAGAAGACGATGCTGAAGATGAAGAGCCCCAGCATCATGGAGAAGGCGCTGGCGTAGTAGGGGTAGGCCGAGGGGATGAAGCGCTCATACTGCGTGTGCTGGAGTGGCCGCACGGATACCTGCAGGAGGACAGAGGTGGCAGGACCTGGCCACTGCAGAGCCCAGGCAGGGCACATGCTAGCTGAAAACAGAAGCTGTCACCTGTGCTTACCTGAGTGGAAGAGTACAGGTGTGTGTAGCCTAGCCGGTTGTAATCCACTTTAAACTGGAATACACCATACACGTCGGGCAACTTGAACTGAACACTGTATTTGCCACCTGCGGAAGAACCAACAAGAATAACCGGGAGGGGTTTCCCAGAGCTTTTCCTGGTTGGGCCTCGAGAGCAAGTGAGGCCTGGGGCCGTTTCTGGCAGCATCCTCGTGCAGGAACTACACTCACCTTTCTTCTTCAGGAAGGTCCTCACAAAAGGATCAATGCGGACAAACTCCAGCTGAATGTCATCGCCATCAAAGGGGACCCATTTGCCATTTGAGAGCTGCTGGATCACGATGCTATACTCCTGAGATAAAAGGCCAGGTTAGCCAGGGCTGGCCATGACTGGAGGCCTTCCACCACCTGCAGGCAGAGCTGCACTTAATTCCCACCCGACGAACATGGCAGGAATGCCCAGGAGTTCAGAAGACCTGCAGATGCCCCTGCCACCCGGCCCTGATCAGTAACCAGTCTCTCTCCTCAGCAAGGTTAATCCCCCAACACAGCATCTCTGCCTCTTCTCTGAAGGCCTAGATTCCTTCACACAGTATTCATGGCCCATCAAAGTCTGGACCCAAACCACCCTCCTGCCCCGACATGTGCCAGGCACTTTCAAGTATTCATGCTTCCATATTCGCTTTCTCTTGCCTAACAAATTCAACCTAATGACCTATTTCTCTTATTAAGTCCAACTTCCTGGGCAGAGTTAATCAGTGAAGCCCCTCCCACTGCTGCCCCCCATAGCAAATACACACACCTCTTCAAAAGAAGTGCTCCTATTAGGACATCAGTTTTCACGCCAGGCTCTGCATCTCACCTGGCATGCTTAGGTGTAGGGATTAACTTATTCATCTTTATTTATGCCCTTTAGGCCAGCAAAGAAGTGTTCAATAAGTGCTTCTGAGCTGAGCTCAGTCAGCTTGGCAAACCCTTTGGGCCCTCCCACCCCAAACATCTCTTACCACTAGGTCAGTGACAGTGTAGGCATTGGGTGGGGCTGTCTCGCCCACCCGATGATGGGACACAGGCCCCACACGGAGGACACCCTCCTCCTTGAACACCCAGCGGGAGAGGGCCACAGCTAGTTCATAGTTGCCTGTCTGGGAATACCTGCAGGAGGGAAACAGGAGCAGCTTGGGCACCAGAGCCACCTTTCCAGTGGTGCCTGATGGGCAGGACCACTCATGTCCACCATGACAGTACCCTAGCGAAGTTCTGCCTGTAGGCCTTGGGCACCTAGGGACTCATGGTTAAAGGGAACGCAGGAAACAAACGAAAAGATATGGCTGGTTGCTTGTCATCTGCACAACAAATACACAAATTTCTAAAAGGAACGGTGGAGGTTAGGGATCTCTAGATAAGTCACTACTACCTTAAAAAATTGGAAGTGCCAATACCAGCAATATAGCAATAAAGCCCTGAAATAATCTGACAGCACCTGAAACACTCAGCCTCTGACACTTTTAGCTAAAAGCCTCCTTCTTCCCCTTCTGAGTCCTCCCCATATACACACACTGCACCACCCGGATCCCCGGCCCCTAAGCCTCCTGGCAGCTACCTCTGGGAGCCGGGCGCCGCCTTCTGCACTGCTGAGTTGAAGAAGGAGTCGCTGAAGAAGTCGAGGGAGCCGCTGAAGATGACGCGGGCATTGTTCCTGGCCTGGAGCCCAGCAATGAGGAGGGTGTTCTTCCCCACCGCATGTGGATACTGGGAACAAAACGAGGCTGTGACCCAAGCAGTTCCAAGTAAGGGAAAAGCTGCCACGCCTCCCGAACAAGAGGACAGCAGGCCAGACCAAAACGACCCTGGCCCTACCTGAAGGGGGAGCCTGAGACCACACCGCTTCTGCCCATGCCCCACCCCACCAACTAGTCATTTCCTTCGCCTCAGCCAAATGTGCTGTTCTGCTTCATTTTTATTTCGAAGCCTCAAGGTTGTGAAGCCCTTACCTGGGTGATAGGCTTGTCCGGGAAGAAGGAGTAAGAGGTGGAAGAGCCCGTCAGGATGTCCAGCACCAAAGGGTTATCAGGATCGGCCACCATCCTGCAGCAGGACGAGAGCAGCCCAGCACTGGCCCCAGGAACTGAGCCCAAGGACATGGGATCCCCGAGAGCCAGTTCTTCCCAGGAATGAATCCTTTTTTCTTAATTGCCAACCACTTAGCTCTTGTCTTGATATAACAATGGAGTCTGACTTG
|
GGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCGTAGCATGTCTGATTTGCCACCTGGATGAAGGCAGACATCAACATGGGTCAGCACGTTCAGTTACGGGAGTGGGAAATTACATGAGGCCTGGGCCTCTGCGTTCCCAAGCTGTGCGTTCTGGACCAGCTACTGAATTATTAATCTCACTTAGCGAAAGTGACGGATGAGCAGTAAGTAAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGACTAGCCTCTCTTACAGGAATTGTGAAATATTAAATGCAAATTTACAACTGCAGATGACGTATGTGCCTTGAACTGAATATTTGGCTTTAAGAATGATTCTTATACTCTGAAGGTGAGAATATTTTGTGGGCAGGTATCAACATTGGGGAAGAGATTTCATGTCTAACTAACTAACTTTATACATGATTTTTAGGAAGCTATTGCCTAAATCAGCGTCAACATGCAGTAAAGGTTGTCTTCAACTGAGCTGTTCTAGTTTTCTCTTCCCCAGCACTGTCATCTAGATTTTCCATTTCAGTGATTCCCACCCCTCGGTCTACTAGCAACAACAACTTTCTTGTATCCTTTGAGGAGACGTTAGGGAGAACCATCATTTCACAGTTAAAAGAAAGACAGTCCAGTCCTAGGCAAAATTTCATGAAGCCACTTAGGATTTTGTATCCAGTCAGTCATCACCCACAGCAACCCCCACCCACAGCCATTAGCAAACCAGGACCGGGGCCAGGTGAAGTTTGAGGGCAACATCTCGCTTTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTATATTTGAGACAGAGTCTTAACACTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCTTGGATTCATGCCTTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGAGCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCACGTCCCTATTTTAGAAATGAGAGGAGTGACTGCACATAGGAAAAATGCCACTTTTAGCAATTCAAAGTGGAAAAACTTCTTTTATATAAAAATTATCCCAACTCCCACCCCTTGGCTCTCAGTGTTGCATCTCCCACAGAGGTAAAGTTGTGCCATTTTCCCACGGCTTTAAACAAAGCAAAACAAAACCACCAATCCTAATAACCCCCCTCCTTGCCCCGTCTCCACGCTGTGCGGAGAGGGCTCTAGCCCCTCAGTCGGACTTCTCCTTCTCCTTCATGTGCAAGAAGACGATGCTGAAGATGAAGAGCCCCAGCATCATGGAGAAGGCGCTGGCGTAGTAGGGGTAGGCCGAGGGGATGAAGCGCTCATACTGCGTGTGCTGGAGTGGCCGCACGGATACCTGCAGGAGGACAGAGGTGGCAGGACCTGGCCACTGCAGAGCCCAGGCAGGGCACATGCTAGCTGAAAACAGAAGCTGTCACCTGTGCTTACCTGAGTGGAAGAGTACAGGTGTGTGTAGCCTAGCCGGTTGTAATCCACTTTAAACTGGAATACACCATACACGTCGGGCAACTTGAACTGAACACTGTATTTGCCACCTGCGGAAGAACCAACAAGAATAACCGGGAGGGGTTTCCCAGAGCTTTTCCTGGTTGGGCCTCGAGAGCAAGTGAGGCCTGGGGCCGTTTTCTGGCAGCATCCTCGTGCAGGAACTACACTCACCTTTCTTCTTCAGGAAGGTCCTCACAAAAGGATCAATGCGGACAAACTCCAGCTGAATGTCATCGCCATCAAAGGGGACCCATTTGCCATTTGAGAGCTGCTGGATCACGATGCTATACTCCTGAGATAAAAGGCCAGGTTAGCCAGGGCTGGCCATGACTGGAGGCCTTCCACCACCTGCAGGCAGAGCTGCACTTAATTCCCACCCGACGAACATGGCAGGAATGCCCAGGAGTTCAGAAGACCTGCAGATGCCCCTGCCACCCGGCCCTGATCAGTAACCAGTCTCTCTCCTCAGCAAGGTTAATCCCCCAACACAGCATCTCTGCCTCTTCTCTGAAGGCCTAGATTCCTTCACACAGTATTCATGGCCCATCAAAGTCTGGACCCAAACCACCCTCCTGCCCCGACATGTGCCAGGCACTTTCAAGTATTCATGCTTCCATATTCGCTTTCTCTTGCCTAACAAATTCAACCTAATGACCTATTTCTCTTATTAAGTCCAACTTCCTGGGCAGAGTTAATCAGTGAAGCCCCTCCCACTGCTGCCCCCCATAGCAAATACACACACCTCTTCAAAAGAAGTGCTCCTATTAGGACATCAGTTTTCACGCCAGGCTCTGCATCTCACCTGGCATGCTTAGGTGTAGGGATTAACTTATTCATCTTTATTTATGCCCTTTAGGCCAGCAAAGAAGTGTTCAATAAGTGCTTCTGAGCTGAGCTCAGTCAGCTTGGCAAACCCTTTGGGCCCTCCCACCCCAAACATCTCTTACCACTAGGTCAGTGACAGTGTAGGCATTGGGTGGGGCTGTCTCGCCCACCCGATGATGGGACACAGGCCCCACACGGAGGACACCCTCCTCCTTGAACACCCAGCGGGAGAGGGCCACAGCTAGTTCATAGTTGCCTGTCTGGGAATACCTGCAGGAGGGAAACAGGAGCAGCTTGGGCACCAGAGCCACCTTTCCAGTGGTGCCTGATGGGCAGGACCACTCATGTCCACCATGACAGTACCCTAGCGAAGTTCTGCCTGTAGGCCTTGGGCACCTAGGGACTCATGGTTAAAGGGAACGCAGGAAACAAACGAAAAGATATGGCTGGTTGCTTGTCATCTGCACAACAAATACACAAATTTCTAAAAGGAACGGTGGAGGTTAGGGATCTCTAGATAAGTCACTACTACCTTAAAAAATTGGAAGTGCCAATACCAGCAATATAGCAATAAAGCCCTGAAATAATCTGACAGCACCTGAAACACTCAGCCTCTGACACTTTTAGCTAAAAGCCTCCTTCTTCCCCTTCTGAGTCCTCCCCATATACACACACTGCACCACCCGGATCCCCGGCCCCTAAGCCTCCTGGCAGCTACCTCTGGGAGCCGGGCGCCGCCTTCTGCACTGCTGAGTTGAAGAAGGAGTCGCTGAAGAAGTCGAGGGAGCCGCTGAAGATGACGCGGGCATTGTTCCTGGCCTGGAGCCCAGCAATGAGGAGGGTGTTCTTCCCCACCGCATGTGGATACTGGGAACAAAACGAGGCTGTGACCCAAGCAGTTCCAAGTAAGGGAAAAGCTGCCACGCCTCCCGAACAAGAGGACAGCAGGCCAGACCAAAACGACCCTGGCCCTACCTGAAGGGGGAGCCTGAGACCACACCGCTTCTGCCCATGCCCCACCCCACCAACTAGTCATTTCCTTCGCCTCAGCCAAATGTGCTGTTCTGCTTCATTTTTATTTCGAAGCCTCAAGGTTGTGAAGCCCTTACCTGGGTGATAGGCTTGTCCGGGAAGAAGGAGTAAGAGGTGGAAGAGCCCGTCAGGATGTCCAGCACCAAAGGGTTATCAGGATCGGCCACCATCCTGCAGCAGGACGAGAGCAGCCCAGCACTGGCCCCAGGAACTGAGCCCAAGGACATGGGATCCCCGAGAGCCAGTTCTTCCCAGGAATGAATCCTTTTTTCTTAATTGCCAACCACTTAGCTCTTGTCTTGATATAACAATGGAGTCTGACTT
|
benign
| 4,596 |
Evaluate this variant at chromosome 1, position 21554098, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']
|
AAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAATCTTTTTCCTTTGAGCTGGAGCTGCAAAGAGAAGAATTTTTAAAAAGAAAAGAAACTTTTAAAAAATTAAAATACAAAAATTTTTCTTAGAGACAGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCCAACTCCAGGCCTGAAGCGAACTTCCTCCAGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTTACCACCATGCCTGGCTTTTTTTCTTTAAACAACTTTTAAAAAATGTTTTATTTTGTTTTTACTTAACATATAATAATTGGACTAGAGTGGTGTCTTATCTGTCACAACACTTTTCTAACGGTAGAGTGTGTATTACTGCTGTTTCCCACAACAAATGGTGTCATATCTTGGTTTTGGCTGAAGCAATAACATTTCCCAGTGAAACTCTTGCCACTTAAAATTCTTTGTCTTGTAACTCATGTGCAACAGGGTTAGTACATTTCTCAGCTGCCAGTGGGGTTGTTCTTTGTGATTTAACAGGAAGACCACAGTGTAAAAACATTCTTATGCCATTAATACATGCTTGTTTTAGGCTACTTGGAAAATTCAAAAAAATAAAGAGGAAATAATCATTCATAGTCCTACCACCCAGAGAAAACCACAGTTAATGTTTTGGTGTATTTCCTTCCAGTTTTTTTTTCCACCTAAACTCTTCAATTACATCCGACTTTAAATATATATATATTTTTTAAAAATTGTAAAGATAATACTGTATCTCAGCACAAAAGAAAATTTTGGAAATGCAGAAAAGACAATGGAAAAGAAAAATCAGTTGTCTGTGATGTCACCACCCAGAAATGGCCACACTTACCAGCCAGTTTTTTCACATATGTGACTCCTACCATTTTTATATCTCTTACCATAAACGACAAGCTCTAGAAGAGAATGTAGCAAATGTAGGGGTCCTGAAAGAAGGGGTGCACTCTGTTTTGTCCCTGATGTTCCTGGGACACAGGTAATTAAAAGGCTGAAGACCGAGTGCTGTAGAACAGGGCTTCTCAAGGTGTGGTCCGCAAAGCAGCAAAGCAGCAGCTTCTCCTGGGAGCTTATTAGAAATACAATCGGAGCCTCACCAGTGGGCCGGGAATCTGTTGTAACAAGCCCTTGGGGGATTCAGATGCTTGCTCTCCTTACAGTTTGAGAAACACTGCACCAAAAGATTGGACTCTGGGAGGTAGGGGGCTTCAGATGAATTGAAAGTGGAAATTCACTTAGGAAATGGGACGGAACTGCTTTGCAGCATGGAACTCATTGACACTGACACAGCTGTTTGTGTGGTTAAGCTTCCTGAGACAGGGACCAGCTGGGTTTGGCATCCCAATGTTGAGCCCCATGCCTGGTCTGTAATAGGTGCTCACCGAATACTTGTTGAATGAATCAAGGAATGAATAAGTGAGTGAAAAAGGATCTCTAGAGCTGTGCCCCACATGCCTCTTTTTCTCTTTTTTTAATTTCTAGGATTGGAACATCAGTTAACATCTGACCACTGCCAGCCCACCCCCTCCCACCCACGTCGATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCACCATTCTTAGTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCAGGTATGCTTGGGGACACAGGTGGAGGCATAAAAAGGTGGTGCAGATGGGGTATGATGAGGGCAGTGTCTATGTTTTAAGGTCCCAGAACCATCCAAAGTATTTAAGAGCTGAAAACAGTGTTCAGAGCAGGAAACCTCAGCCCTGCTACTTGCATGTGTTAGTTGGATAGGTCACTCTTTTCCCATATATATATATATACACACATACACATATATGAAATATATATATACAAGGAAAATATATATATACAAGGAAATATATATTTTCCACATATATATTTTTCCATATATATATTTCATATATATATTTTTCCATATATATATTTCATATATATTATATATATTCTTTCTTAATTTTTTTTTTTTTGAGACAGGGTTTCGCTCTGTTGCCCAAGCTAGAGTGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTCTTTCCTTTCTTTCCTTTCTTTTCTCTCGCATCCGAGTGAAGAGACCACCAAACAGGCTTTGAGTGAGCAACAAGGCTGTTTATTTCACCTGGGTGCAGGCGGGCTAAGTCCAAAAAGAGAGTCAGCCAAGGGAGATATGGGTGGGGCCGTTTTATAAGATAGGGGTAGGTAAAGGAAAAATTACAGTCAAAGGGGGGTTCTCTGGCGGGCAGGAGTGGGGGTCACAAGGTGCTCAGTGGGGGAGCTTTTTGAGCCAGGATGAGCCAGGAGAAGGAATTTCACAAGGTAATGTCGTCAGTTAAGGCAAGGACCGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGTAGGAACAGACCATTTAAATTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCGTCTGGATGTATATGTGCAGGTCACAGGGGATATGATGGCTTAGCTTGGGCTCAGACGCCTGACACTTTCTTTTTGAGACAGAGACAGACTCTCACTCTGTTTGCCCAGGATGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACCTTCGCCACCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCGCAACACCCGGCTAATTTTTTGTATTCTTATTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTTTTTCTTGTCATTTGTAGTTCTCACTAGTGAACTCATCTTCAACAGGAGTTTTTTGTTTTTCTTTTTTTTGAGACAGTGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCATCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCGCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCGAGTTTTTTGTTTTTCTGTTGGAGATTCACGCGGAAGTGTTTCCACAGCATGGCATGGTGTTTTCAGGACACT
|
AAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAATCTTTTTCCTTTGAGCTGGAGCTGCAAAGAGAAGAATTTTTAAAAAGAAAAGAAACTTTTAAAAAATTAAAATACAAAAATTTTTCTTAGAGACAGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCCAACTCCAGGCCTGAAGCGAACTTCCTCCAGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTTACCACCATGCCTGGCTTTTTTTCTTTAAACAACTTTTAAAAAATGTTTTATTTTGTTTTTACTTAACATATAATAATTGGACTAGAGTGGTGTCTTATCTGTCACAACACTTTTCTAACGGTAGAGTGTGTATTACTGCTGTTTCCCACAACAAATGGTGTCATATCTTGGTTTTGGCTGAAGCAATAACATTTCCCAGTGAAACTCTTGCCACTTAAAATTCTTTGTCTTGTAACTCATGTGCAACAGGGTTAGTACATTTCTCAGCTGCCAGTGGGGTTGTTCTTTGTGATTTAACAGGAAGACCACAGTGTAAAAACATTCTTATGCCATTAATACATGCTTGTTTTAGGCTACTTGGAAAATTCAAAAAAATAAAGAGGAAATAATCATTCATAGTCCTACCACCCAGAGAAAACCACAGTTAATGTTTTGGTGTATTTCCTTCCAGTTTTTTTTTCCACCTAAACTCTTCAATTACATCCGACTTTAAATATATATATATTTTTTAAAAATTGTAAAGATAATACTGTATCTCAGCACAAAAGAAAATTTTGGAAATGCAGAAAAGACAATGGAAAAGAAAAATCAGTTGTCTGTGATGTCACCACCCAGAAATGGCCACACTTACCAGCCAGTTTTTTCACATATGTGACTCCTACCATTTTTATATCTCTTACCATAAACGACAAGCTCTAGAAGAGAATGTAGCAAATGTAGGGGTCCTGAAAGAAGGGGTGCACTCTGTTTTGTCCCTGATGTTCCTGGGACACAGGTAATTAAAAGGCTGAAGACCGAGTGCTGTAGAACAGGGCTTCTCAAGGTGTGGTCCGCAAAGCAGCAAAGCAGCAGCTTCTCCTGGGAGCTTATTAGAAATACAATCGGAGCCTCACCAGTGGGCCGGGAATCTGTTGTAACAAGCCCTTGGGGGATTCAGATGCTTGCTCTCCTTACAGTTTGAGAAACACTGCACCAAAAGATTGGACTCTGGGAGGTAGGGGGCTTCAGATGAATTGAAAGTGGAAATTCACTTAGGAAATGGGACGGAACTGCTTTGCAGCATGGAACTCATTGACACTGACACAGCTGTTTGTGTGGTTAAGCTTCCTGAGACAGGGACCAGCTGGGTTTGGCATCCCAATGTTGAGCCCCATGCCTGGTCTGTAATAGGTGCTCACCGAATACTTGTTGAATGAATCAAGGAATGAATAAGTGAGTGAAAAAGGATCTCTAGAGCTGTGCCCCACATGCCTCTTTTTCTCTTTTTTTAATTTCTAGGATTGGAACATCAGTTAACATCTGACCACTGCCAGCCCACCCCCTCCCACCCACGTCGATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCACCATTCTTGTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCAGGTATGCTTGGGGACACAGGTGGAGGCATAAAAAGGTGGTGCAGATGGGGTATGATGAGGGCAGTGTCTATGTTTTAAGGTCCCAGAACCATCCAAAGTATTTAAGAGCTGAAAACAGTGTTCAGAGCAGGAAACCTCAGCCCTGCTACTTGCATGTGTTAGTTGGATAGGTCACTCTTTTCCCATATATATATATATACACACATACACATATATGAAATATATATATACAAGGAAAATATATATATACAAGGAAATATATATTTTCCACATATATATTTTTCCATATATATATTTCATATATATATTTTTCCATATATATATTTCATATATATTATATATATTCTTTCTTAATTTTTTTTTTTTTGAGACAGGGTTTCGCTCTGTTGCCCAAGCTAGAGTGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTCTTTCCTTTCTTTCCTTTCTTTTCTCTCGCATCCGAGTGAAGAGACCACCAAACAGGCTTTGAGTGAGCAACAAGGCTGTTTATTTCACCTGGGTGCAGGCGGGCTAAGTCCAAAAAGAGAGTCAGCCAAGGGAGATATGGGTGGGGCCGTTTTATAAGATAGGGGTAGGTAAAGGAAAAATTACAGTCAAAGGGGGGTTCTCTGGCGGGCAGGAGTGGGGGTCACAAGGTGCTCAGTGGGGGAGCTTTTTGAGCCAGGATGAGCCAGGAGAAGGAATTTCACAAGGTAATGTCGTCAGTTAAGGCAAGGACCGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGTAGGAACAGACCATTTAAATTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCGTCTGGATGTATATGTGCAGGTCACAGGGGATATGATGGCTTAGCTTGGGCTCAGACGCCTGACACTTTCTTTTTGAGACAGAGACAGACTCTCACTCTGTTTGCCCAGGATGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACCTTCGCCACCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCGCAACACCCGGCTAATTTTTTGTATTCTTATTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTTTTTCTTGTCATTTGTAGTTCTCACTAGTGAACTCATCTTCAACAGGAGTTTTTTGTTTTTCTTTTTTTTGAGACAGTGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCATCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCGCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCGAGTTTTTTGTTTTTCTGTTGGAGATTCACGCGGAAGTGTTTCCACAGCATGGCATGGTGTTTTCAGGACACTN
|
pathogenic
| 4,654 |
Mutation at chromosome 1, position 21554123, within ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Hypophosphatasia', 'Infantile_hypophosphatasia']
|
TTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAATCTTTTTCCTTTGAGCTGGAGCTGCAAAGAGAAGAATTTTTAAAAAGAAAAGAAACTTTTAAAAAATTAAAATACAAAAATTTTTCTTAGAGACAGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCCAACTCCAGGCCTGAAGCGAACTTCCTCCAGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTTACCACCATGCCTGGCTTTTTTTCTTTAAACAACTTTTAAAAAATGTTTTATTTTGTTTTTACTTAACATATAATAATTGGACTAGAGTGGTGTCTTATCTGTCACAACACTTTTCTAACGGTAGAGTGTGTATTACTGCTGTTTCCCACAACAAATGGTGTCATATCTTGGTTTTGGCTGAAGCAATAACATTTCCCAGTGAAACTCTTGCCACTTAAAATTCTTTGTCTTGTAACTCATGTGCAACAGGGTTAGTACATTTCTCAGCTGCCAGTGGGGTTGTTCTTTGTGATTTAACAGGAAGACCACAGTGTAAAAACATTCTTATGCCATTAATACATGCTTGTTTTAGGCTACTTGGAAAATTCAAAAAAATAAAGAGGAAATAATCATTCATAGTCCTACCACCCAGAGAAAACCACAGTTAATGTTTTGGTGTATTTCCTTCCAGTTTTTTTTTCCACCTAAACTCTTCAATTACATCCGACTTTAAATATATATATATTTTTTAAAAATTGTAAAGATAATACTGTATCTCAGCACAAAAGAAAATTTTGGAAATGCAGAAAAGACAATGGAAAAGAAAAATCAGTTGTCTGTGATGTCACCACCCAGAAATGGCCACACTTACCAGCCAGTTTTTTCACATATGTGACTCCTACCATTTTTATATCTCTTACCATAAACGACAAGCTCTAGAAGAGAATGTAGCAAATGTAGGGGTCCTGAAAGAAGGGGTGCACTCTGTTTTGTCCCTGATGTTCCTGGGACACAGGTAATTAAAAGGCTGAAGACCGAGTGCTGTAGAACAGGGCTTCTCAAGGTGTGGTCCGCAAAGCAGCAAAGCAGCAGCTTCTCCTGGGAGCTTATTAGAAATACAATCGGAGCCTCACCAGTGGGCCGGGAATCTGTTGTAACAAGCCCTTGGGGGATTCAGATGCTTGCTCTCCTTACAGTTTGAGAAACACTGCACCAAAAGATTGGACTCTGGGAGGTAGGGGGCTTCAGATGAATTGAAAGTGGAAATTCACTTAGGAAATGGGACGGAACTGCTTTGCAGCATGGAACTCATTGACACTGACACAGCTGTTTGTGTGGTTAAGCTTCCTGAGACAGGGACCAGCTGGGTTTGGCATCCCAATGTTGAGCCCCATGCCTGGTCTGTAATAGGTGCTCACCGAATACTTGTTGAATGAATCAAGGAATGAATAAGTGAGTGAAAAAGGATCTCTAGAGCTGTGCCCCACATGCCTCTTTTTCTCTTTTTTTAATTTCTAGGATTGGAACATCAGTTAACATCTGACCACTGCCAGCCCACCCCCTCCCACCCACGTCGATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCACCATTCTTAGTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCAGGTATGCTTGGGGACACAGGTGGAGGCATAAAAAGGTGGTGCAGATGGGGTATGATGAGGGCAGTGTCTATGTTTTAAGGTCCCAGAACCATCCAAAGTATTTAAGAGCTGAAAACAGTGTTCAGAGCAGGAAACCTCAGCCCTGCTACTTGCATGTGTTAGTTGGATAGGTCACTCTTTTCCCATATATATATATATACACACATACACATATATGAAATATATATATACAAGGAAAATATATATATACAAGGAAATATATATTTTCCACATATATATTTTTCCATATATATATTTCATATATATATTTTTCCATATATATATTTCATATATATTATATATATTCTTTCTTAATTTTTTTTTTTTTGAGACAGGGTTTCGCTCTGTTGCCCAAGCTAGAGTGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTCTTTCCTTTCTTTCCTTTCTTTTCTCTCGCATCCGAGTGAAGAGACCACCAAACAGGCTTTGAGTGAGCAACAAGGCTGTTTATTTCACCTGGGTGCAGGCGGGCTAAGTCCAAAAAGAGAGTCAGCCAAGGGAGATATGGGTGGGGCCGTTTTATAAGATAGGGGTAGGTAAAGGAAAAATTACAGTCAAAGGGGGGTTCTCTGGCGGGCAGGAGTGGGGGTCACAAGGTGCTCAGTGGGGGAGCTTTTTGAGCCAGGATGAGCCAGGAGAAGGAATTTCACAAGGTAATGTCGTCAGTTAAGGCAAGGACCGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGTAGGAACAGACCATTTAAATTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCGTCTGGATGTATATGTGCAGGTCACAGGGGATATGATGGCTTAGCTTGGGCTCAGACGCCTGACACTTTCTTTTTGAGACAGAGACAGACTCTCACTCTGTTTGCCCAGGATGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACCTTCGCCACCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCGCAACACCCGGCTAATTTTTTGTATTCTTATTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTTTTTCTTGTCATTTGTAGTTCTCACTAGTGAACTCATCTTCAACAGGAGTTTTTTGTTTTTCTTTTTTTTGAGACAGTGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCATCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCGCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCGAGTTTTTTGTTTTTCTGTTGGAGATTCACGCGGAAGTGTTTCCACAGCATGGCATGGTGTTTTCAGGACACTAGGGGTTCAACTAATTCTAGGCCAG
|
TTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCGAGGTTGTGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAATCTTTTTCCTTTGAGCTGGAGCTGCAAAGAGAAGAATTTTTAAAAAGAAAAGAAACTTTTAAAAAATTAAAATACAAAAATTTTTCTTAGAGACAGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCCAACTCCAGGCCTGAAGCGAACTTCCTCCAGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTTACCACCATGCCTGGCTTTTTTTCTTTAAACAACTTTTAAAAAATGTTTTATTTTGTTTTTACTTAACATATAATAATTGGACTAGAGTGGTGTCTTATCTGTCACAACACTTTTCTAACGGTAGAGTGTGTATTACTGCTGTTTCCCACAACAAATGGTGTCATATCTTGGTTTTGGCTGAAGCAATAACATTTCCCAGTGAAACTCTTGCCACTTAAAATTCTTTGTCTTGTAACTCATGTGCAACAGGGTTAGTACATTTCTCAGCTGCCAGTGGGGTTGTTCTTTGTGATTTAACAGGAAGACCACAGTGTAAAAACATTCTTATGCCATTAATACATGCTTGTTTTAGGCTACTTGGAAAATTCAAAAAAATAAAGAGGAAATAATCATTCATAGTCCTACCACCCAGAGAAAACCACAGTTAATGTTTTGGTGTATTTCCTTCCAGTTTTTTTTTCCACCTAAACTCTTCAATTACATCCGACTTTAAATATATATATATTTTTTAAAAATTGTAAAGATAATACTGTATCTCAGCACAAAAGAAAATTTTGGAAATGCAGAAAAGACAATGGAAAAGAAAAATCAGTTGTCTGTGATGTCACCACCCAGAAATGGCCACACTTACCAGCCAGTTTTTTCACATATGTGACTCCTACCATTTTTATATCTCTTACCATAAACGACAAGCTCTAGAAGAGAATGTAGCAAATGTAGGGGTCCTGAAAGAAGGGGTGCACTCTGTTTTGTCCCTGATGTTCCTGGGACACAGGTAATTAAAAGGCTGAAGACCGAGTGCTGTAGAACAGGGCTTCTCAAGGTGTGGTCCGCAAAGCAGCAAAGCAGCAGCTTCTCCTGGGAGCTTATTAGAAATACAATCGGAGCCTCACCAGTGGGCCGGGAATCTGTTGTAACAAGCCCTTGGGGGATTCAGATGCTTGCTCTCCTTACAGTTTGAGAAACACTGCACCAAAAGATTGGACTCTGGGAGGTAGGGGGCTTCAGATGAATTGAAAGTGGAAATTCACTTAGGAAATGGGACGGAACTGCTTTGCAGCATGGAACTCATTGACACTGACACAGCTGTTTGTGTGGTTAAGCTTCCTGAGACAGGGACCAGCTGGGTTTGGCATCCCAATGTTGAGCCCCATGCCTGGTCTGTAATAGGTGCTCACCGAATACTTGTTGAATGAATCAAGGAATGAATAAGTGAGTGAAAAAGGATCTCTAGAGCTGTGCCCCACATGCCTCTTTTTCTCTTTTTTTAATTTCTAGGATTGGAACATCAGTTAACATCTGACCACTGCCAGCCCACCCCCTCCCACCCACGTCGATTGCATCTCTGGGCTCCAGGGATAAAGCAGGTCTTGGGGTGCACCATGATTTCACCATTCTTAGTACTGGCCATTGGCACCTGCCTTACTCCTTAGTGCCAGGTATGCTTGGGGACACAGGTGGAGGCATAAAAAGGTGGTGCAGATGGGGTATGATGAGGGCAGTGTCTATGTTTTAAGGTCCCAGAACCATCCAAAGTATTTAAGAGCTGAAAACAGTGTTCAGAGCAGGAAACCTCAGCCCTGCTACTTGCATGTGTTAGTTGGATAGGTCACTCTTTTCCCATATATATATATATACACACATACACATATATGAAATATATATATACAAGGAAAATATATATATACAAGGAAATATATATTTTCCACATATATATTTTTCCATATATATATTTCATATATATATTTTTCCATATATATATTTCATATATATTATATATATTCTTTCTTAATTTTTTTTTTTTTGAGACAGGGTTTCGCTCTGTTGCCCAAGCTAGAGTGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTCTTTCCTTTCTTTCCTTTCTTTTCTCTCGCATCCGAGTGAAGAGACCACCAAACAGGCTTTGAGTGAGCAACAAGGCTGTTTATTTCACCTGGGTGCAGGCGGGCTAAGTCCAAAAAGAGAGTCAGCCAAGGGAGATATGGGTGGGGCCGTTTTATAAGATAGGGGTAGGTAAAGGAAAAATTACAGTCAAAGGGGGGTTCTCTGGCGGGCAGGAGTGGGGGTCACAAGGTGCTCAGTGGGGGAGCTTTTTGAGCCAGGATGAGCCAGGAGAAGGAATTTCACAAGGTAATGTCGTCAGTTAAGGCAAGGACCGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGTAGGAACAGACCATTTAAATTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCGTCTGGATGTATATGTGCAGGTCACAGGGGATATGATGGCTTAGCTTGGGCTCAGACGCCTGACACTTTCTTTTTGAGACAGAGACAGACTCTCACTCTGTTTGCCCAGGATGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACCTTCGCCACCCAGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCGCAACACCCGGCTAATTTTTTGTATTCTTATTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTTTTTCTTGTCATTTGTAGTTCTCACTAGTGAACTCATCTTCAACAGGAGTTTTTTGTTTTTCTTTTTTTTGAGACAGTGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCATCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCGCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCGAGTTTTTTGTTTTTCTGTTGGAGATTCACGCGGAAGTGTTTCCACAGCATGGCATGGTGTTTTCAGGACACTAGGGGTTCAACTAATTCTAGGCCAGNNNN
|
pathogenic
| 4,655 |
Assess the variant on chromosome 1, position 21560691, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia']
|
TCTGAAATTGATGCCCTCAGCAGACACTTCCAGAAGAGAGAGGGTGGACCTGGGGCTGTCGGGATGAGGGTAGTGGGCTGAGGGATTGGGGTGGTGGTGACGTAAGGGGAGGCCTCTTGGGGAGGGGCGTGGGGTGTGCTTGGGTCCAAAGCTAGAGGTGCACTGCAGCACCCTGGCGGCTCCTCGCCTGTGCTCTGCGCCTATGCTAGGCTGGGGCAGAGCCACGGCGACGCGTGAGTTTCCGGTTCTCCCACTTGGGGCCCTAATCTCAGGCTCTCCATTTCCTAATGTGGAGGAGACACTGGTGCCCACCTGCCAAGGCAGTTGAGAGGAATAAGAGAAGCTGTGTGGGGGGTCCCTGGCATCTCGCCCAGAGCCAGTGCGTGTGTGAGGAAGGAGGGCTGTTCTTTACCCACGGCCACTCCGAGAGCCAGGCACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAG
|
TCTGAAATTGATGCCCTCAGCAGACACTTCCAGAAGAGAGAGGGTGGACCTGGGGCTGTCGGGATGAGGGTAGTGGGCTGAGGGATTGGGGTGGTGGTGACGTAAGGGGAGGCCTCTTGGGGAGGGGCGTGGGGTGTGCTTGGGTCCAAAGCTAGAGGTGCACTGCAGCACCCTGGCGGCTCCTCGCCTGTGCTCTGCGCCTATGCTAGGCTGGGGCAGAGCCACGGCGACGCGTGAGTTTCCGGTTCTCCCACTTGGGGCCCTAATCTCAGGCTCTCCATTTCCTAATGTGGAGGAGACACTGGTGCCCACCTGCCAAGGCAGTTGAGAGGAATAAGAGAAGCTGTGTGGGGGGTCCCTGGCATCTCGCCCAGAGCCAGTGCGTGTGTGAGGAAGGAGGGCTGTTCTTTACCCACGGCCACTCCGAGAGCCAGGCACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGN
|
pathogenic
| 4,665 |
Gene mutation in ALPL (alkaline phosphatase, biomineralization associated) at chromosome 1, position 21561095—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Infantile_hypophosphatasia']
|
TTCTTTACCCACGGCCACTCCGAGAGCCAGGCACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGT
|
TTCTTTACCCACGGCCACTCCGAGAGCCAGGCACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAG
|
pathogenic
| 4,674 |
Is chromosome 1, position 21561138, gene ALPL (alkaline phosphatase, biomineralization associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Infantile_hypophosphatasia']
|
CTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATG
|
CTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGCCCAGTCCTTAGAGCGACCCTGAGGGGATGATGCCAGCAATGTCATTTAACAGGGGAAGAGACTGAGGCTGAGGGAGGTGACAGAGCTAGTACTTGGAGCAGCTGGGGGTTTTTTGTTTGTTTGTTTTTGAGACGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACTGCCACGCCCAGCTAATTTTTCATATTTCAGTAGAGACGGGATATCACCGTGTTGCCCAAGTTGGTCGCGAACTCCTGAGCTCAGGTGATCTGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCAGCTGGGGTTTTAATTGAGGTCTGTCTGGCACTAAAGCTGTGGATTGGTTGCTGGACACACACACACATGAGAAAGAGGGAGAGAGAAAGAAGTGTTCTTAGTTCTCATTTTATCTCAAAACCATAAAGCCCCAGCCAGAAGTCACTATCAGCCAAGAGGGATGGAGGGGGCGATGAGAGATGCAGAATGTCGTCCTTGATAACTAATCCTAACAAGAGTGAGATCACCTGGCTCCTTTAAATTTGACATATTAAGCAAAAGGCAAGCTTCGCTTTCCAGCACTGCTATTAAACCAAGTCAGGTTCCTGCTGAGCCTACTTTAATGAATAAGCTAAGCAGAGTTGATAATTGATGGCTGGCTATATCAGGGGACCCCTTCTGCTGGAAGGAGTTTGTTGAATAGGTTAAACATTACTCTCTTAATTGTGCTAGCACAATTCATTTGCTGCCTTAGCAGCTCATCTCCCTACTGGGTAGAAGGAATGAGCATGGGCTTTGGAGCGAAACCCAGCCCTGCCAGTGTCTGCCTGTGCTGTGTGGCCTTAGGCAAGTTGCTCGTTGTCTCTGAGCCTTGGTTTCTTCATTCTGAGATGTGAGGAGAAGACCCCAGGGTCCACAGGCTTTTCTGGAGGATCTGGATGGCACATATTTATAAACCACAGATGTGTTGTCTGGGTGGGCAACTATTGCACCCACCTCCAAGTTCAGGCATTCCAGCCTGAGCAATCAGAAGTGGGGGGATCTGTACGTCTGGAGATAGGAGGCTATCCTTACCCCGCCAAGTAACTGCCTCTCTCTGTGTTTAGAGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGATGGTGAGGCCCAGGGGCCTGTGGGAGGGGTGGAACAGGACACCTAGCTAGGAGCCCCGGGAGCCAGGCTGAGTTGAAGGGGGCTGTGTTGAAGGGGCTAGGGCTCTGGAGGAAGGGTGTTTAAAAGGATGAGGGGCCAGGCTGTGGATTCAAGAGGCCTGCTCTGCCAGACAGCCCCCTGAGGATCTGGGGGTGAAGGGAGAGAGGGGCTGCTCACTGACATTTACAGAGCCATGCCCAGTGCCAACTGCCCGAGCCTGCCTTGGTACCGAACTAGAGAGCTTCTGGGTACCCAAGCAGGCTGATTGGAGAGGCAGGAGCACGAGAGACTGAGGCCCCCACTCCCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCC
|
pathogenic
| 4,684 |
Gene ALPL (alkaline phosphatase, biomineralization associated) variant at chromosome position 21563169 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Adult_hypophosphatasia']
|
CTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGAC
|
CTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACNN
|
pathogenic
| 4,702 |
Regarding the variant found on chromosome 1 at position 21563195 in gene ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic
|
CACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGG
|
CACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATG
|
pathogenic
| 4,705 |
Assess the variant on chromosome 1, position 21563203, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Infantile_hypophosphatasia']
|
CCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAA
|
CCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAACGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAN
|
pathogenic
| 4,706 |
A genetic variant at chromosome 1, position 21563212, affecting gene ALPL (alkaline phosphatase, biomineralization associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Hypophosphatemia', 'Infantile_hypophosphatasia']
|
GGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCT
|
GGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCCATGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCT
|
pathogenic
| 4,710 |
Is the genetic variant on chromosome 1, position 21563221, gene ALPL (alkaline phosphatase, biomineralization associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Hypophosphatasia']
|
GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACA
|
GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACAN
|
pathogenic
| 4,713 |
The mutation in gene ALPL (alkaline phosphatase, biomineralization associated) at chromosome 1, position 21563236—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Infantile_hypophosphatasia']
|
GTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGC
|
GTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCN
|
pathogenic
| 4,715 |
Variant in gene ALPL (alkaline phosphatase, biomineralization associated), located at chromosome 1 position 21563291: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
CTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCAC
|
CTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAGACCCCCCCAAGGTCTCTAATTCTTGGGCTTAAGCGATCCTACAGCCTTGGCCTCCCAGTCTTGGGATTACAGGCGTGAGCCACCATGCACGGCCTATATATGCCTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTACTCTGTCTTCCAGGCTGGAGTACAGTAGCATGACATCAGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAGACAAGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTGTATACACTTTTGCATGAAGTTCCAGTTCATTCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACN
|
benign
| 4,719 |
Variant chromosome 1, position 21564047, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? Disease(s)?
|
pathogenic; ['Adult_hypophosphatasia']
|
TCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCC
|
TCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCN
|
pathogenic
| 4,725 |
The genetic variant at chromosome 1, position 21564085, affecting gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']
|
TATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAA
|
TATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAN
|
pathogenic
| 4,731 |
Determine whether the variant at chromosome 1, position 21564133, in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia']
|
ATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATA
|
ATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATANNN
|
pathogenic
| 4,743 |
Chromosome 1, position 21564148, gene ALPL (alkaline phosphatase, biomineralization associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia']
|
CAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGT
|
CAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTATTGCTATTGGTGGTGGTGATAGTGGTGTTATGTAATAACCTCCAGACCCTGGGTCAGGCCCCAGGCTCACTTCTGGGGGAGTAGTGGGGACTATGGTGCCTTCTGTGCCTTCAAGGTGCTCTCAGGCTGGTGGGGAAGGGAGACAGGCAAATAGTTTTGGGGTCTCTGCTAAACATCCGGATGTAGGGCAACCCTGTGATGGTGGCCGCAGGGCAGGTGGCAGAGAAGTCAGCGCTGGTCTTGGCCCCACCCTTCCCTTCCCCAGTCCCCTTCCCCCTCACTTTCACTACCCTATCCCCAGACCCCCCACTCCTTCAAGAAGGCCCCTCCCTCTCCCTTCTCCAGGACTCCCCTGCTCCCCAACCCCTTGCTGGCTCCTGCAGCCCCAGGCCCGGAGAGAGGCCTCCGCTGACCCCACCTGAGCCCCAATCTTCCGCCGGACACTTCTCTGTACTTTGGAGAGCTAAGGTCCTGCCCCAGTGCTGCCAGGGTGCAGGGAATGATGGCAGGAAGCAGGCAGCTAGGTAGTCCTGTGGCTCTGGGGGGCTTCAGTGGGCAGTGGGCCTGGTCAAGGCTATGGGGTCCTCTCTGGTCCCTCACGCCCCAGTCCCCATGGTGTGAGTGTAGGCGGGGTGGGTGCCACTGGGGCGAAGGCCTGGCCATCTCCTGACCCTCCTCTCCCACCTGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTGGTGAGTCGGGGGAGCAGTGGGGAGCAGGGCCAGCTTCGTGGCCTGTCCAGGCCTCAGTCTTTCTGACTGTGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATATCCATGGGATTCCTTCCGTGACAGGGGAAGCTGAGGGTTTGGGGTTCACTCAGTGGTGGGTTCTGGTCCCAGTTCATTTCTCTGAGTCGATTCTTCATTTGACTATAAAACGGGTGGGAACGTAGCCCCCTCATAGGGTTGGTGTGAGGAGGGAGAAGTCAGCCCAGGGCTAGCCTGTGGGGTGCAGTCCATGGCCACGCCCCTTCCCTCCTCAGAATTGGGAGGCCCAGCCTGTGCCCCCAGAAGCTTTAGTCAGGGGCCAAGGCCAAAACACAGGTGACAAGGCCAACATACAGGTGACAGAGCCACAGTCCACTTGAGATCCCTCAGGGGTCCTGTGGGCGCCTTGATGAAGGGGAGGACTCCAGCCCAGGTGCTCACATCTCAAGGGCCTTCGGGGTGAGGGGAGAGGGTTCCAGAGGCAGTGTTCTGGCTGCTCGGCTACTTGGAAGCCACTGCCAGACACCTGCTGCTGTGGATGGGGAGACTGAGACCCGGGCAATCCTCAGAACTGAAGCGGGGGCCTGTCTTTAGCGGGGAGGGGGAAGGGAGGGAGGAGGCCTCTGGGACACCCCGATCTGTGGATAAAGCCAAACCCGCCCCTCCTGCACCCCAGGGAAATCTGTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCGAGGCCTTGAGCCAGGGCTGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACGGGGTGAGGCGGGGCCTCTGGTGGGCAGGAGGCCTCAGGCCCAGGCTGGCCCGGAGAAAGCAGCCTGGCCTGGCTCCCCACACACCTGGGAGGCTCCCAGCCCATTAGGGGATTTGCGGTTGGGCAGGCAGGCACTGTGGGATTTCTCTGCGGTGGGGCTGCGGGGTGAACCCTCATGTGACCGCCACCACACCCCAAGAACCAGGCATCCAGGGATGATTCCATAAATTGAAACCTGGTGCTGTGCCCTCCTCTGCCCCCCACTACACGGGAGGTGGTGATGGCCAAGTGTCGTCTGCCTGCCCTGCGTATTCACATGGTCACAGATGGGTACATATCTGTACACTCAACCACCAGCATGCCCGGCAAAGAGCTGGTGTGTACAGTGGTTGGCTAGTGCCAGCTCTCGTGTTTAAACTTCCGAGTTCCAGACCTTGCCCTGCGTGTTGCTAGCTGTGTGACCTTGGGTCAGTTACTTAACCTCTCTGAGGCTTCCCTTTCACAACTCCTTTGTGAACTGTACCTGCCTCATAAGCTTATGCCAAGAACTGATTAAGATAATCCCTGTGGAGCTCAGCACAGGACCCGAGGCCTAGCGAGTGCCCAGAAGGTGGTGGCACTTACGCAGGAGCCACATGTCCTTGCCCTGAAACACACTTCAACAAACTGAGCTGACTCATGGAGACAGAAGTCATCCATGTGACGCTTACTCTCTGTTCTTAAGTGAGAATGCCCGGCTCGTTCCTTTTCAGGCTTTTATTGCCTACTGTGGGGGACTGCTGAGGCGATCTGGGGACTTCTGCCCCTTGAGCCTGGAATGGGGATTCGGTGAGGGGCAGAGAAAGCCCCCCTGCCCAGCTACACCTCACCTCTTTCTCTCCACCACCAGACAAACTCACCTGCCTTCAGCCCTCCATGCACTGCCCCCCACAAATTTCTGGGGGCTACTTGGCCCCTCCACAGTAGAGACCCACGTCTGCCCTTTTCCCAGCATGGTGGATTAAGTACCCGCTTTCAGGACACACAGTGCTGTTGGCCCCTTTCACTGAACAGACATCTGAGGCCAAGCCACTCATCCTGGCTTGCCTTCACCCGACATGTGGCCTGGGGCGAGTTCCTTCCCCTCCCTATGCCTCAGTTTCCCCACCTGTGCAGCAGAAACAGAGAGCCACACTTGCTTGCTCCCAGGGCCGTGGGAGGCCGTGATGAGGTCATGGATGTGAGAACATTTGTTGTACAGGCACAGGGTATAATTACATGGGGACTGCTCCTCAGAGGGGTTTGTCAGGGACAGCCTGAGCAGGGGACAGGAACTTGAAGGAAATTCGAGGGGAGGGAAGATGTTTCAGGTGAGGGGGTGGGAGATGAGGAGGGGGGGCCGCAGGGGCCACGTCAAGGGGCACAAGCCAGGGAGTGAGTGAGGACGGAGGACCTGTGTGAGGATCCCTTTCTTTCCTCCTCTTCCTTTCTCTCCCAGCCCCACCTGCCTCTCCGTCACCACCCCCCCAAAAGCCTCCCAGTCCCCAGACTGTACATGAAACAAAAATCCTGGTGTCCACCCTGAAAATAAATACTGTTGCTTAAAAAAAAAAAAGAAAGAAGAGAAAGAAAGAAAGAAAGACACAAACCTAAACCCCAAAGCCAAACAGCAAGTCTGTTATTTGGGAGTTTAATGAGCCCGTGTGAAGTCGCTGCCGGGCTGGAAACGATGAGGCTCCCTGCAGGAAGATTGGGGGCTTCGTTTTCCACTCTGAAGATGCCAAGAGGTCAGGTTCTGTGGGAACAGTTGTGGGGGGCGGGGCAAGGGACCCGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTNN
|
pathogenic
| 4,747 |
Evaluate the clinical significance of the mutation at chromosome 1, position 21568105 in gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['ALPL-related_disorder', 'Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']
|
CGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCA
|
CGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGCTAAGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCA
|
pathogenic
| 4,751 |
Is the variant located on chromosome 1 at position 21568111, gene ALPL (alkaline phosphatase, biomineralization associated), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Adult_hypophosphatasia', 'Infantile_hypophosphatasia']
|
CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTT
|
CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGTGATCATGGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCT
|
pathogenic
| 4,754 |
Determine if the mutation at chromosome 1, position 21568111 in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia']
|
CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTT
|
CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAAATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCTGGACCTCAGGTGATCCGCCCGTTTTGGCCTCCCAAAGTGCTGGCATTATAGGCGTGAGCCATCGCGCCCGGCCTATTTTATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTTCAGTCTCAGCCTCCTGGGCTCAAGTGCTCCTCCTGGCTCAGTCCCTTGAATAGCTAGGAGCACAAGCCTGTACCACCATGCCCGGCTAAGTTTCGAAACAAATTTTATTTGTATAGACAGGGTCTTGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGGCATCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGTCGCATTTTATGGATAGGAAAACTGGGCTCACAGAGTTTAGGTGGCAGGCCCTTGGTCAGTAGTCGATAGAGTCAGGGTTCAAACCCAAGTCTGACTTCAAAGCTCACGGCCATGACCATGGCCTGGACCCAGGCTGGTCCTGGGGCACCTTTCCCACCTCTCCAGCCATCCTGTGTTCCTGGCCCCCTGTGCATTCCACAAAACCTAGGATCTAAGGTGGGAGACAGAGTGGAGGATAGAGCAAGGGACCTATGAGATGCAGGCCTGGAATGGTGGATCTGGGGCCAGTGTCAGCCAGGCTCTGCACTCCCAAGGTGTCAGCCAGGGGCAGTGGCCCGGGCTGGCACCCGCGGTGACAAGAGAACACTAGTGTGGTGGTCACCGCAGGCGGCTGCTGTTATGCTCTTGGCCCTACTTTAAAAATAGTCAGAACTTCAAACATGGACTCCCAAGGAAAACAAACAGTCCCGCGTCCGTCTGCCCGCACACACCAGCTGGTGGGTAAAATTAGCCTGGTGGTGACTACAGAGCCGTGAGGCCCGGCCCCGCTGTTTGCCCAGGCTGCGGTGGGCTGGCTCCCAGCTGTGGGCTGCCCCAAAGACCTCCCTGGCTGGAGCCTCTCCCTGCACGCATTCAGCCTTCCACCGTGGGAGAGGAGGCTCTGGGAGTCCCTGCCCTTAGCTGCACGAATACAGCAGGGCCCTAGTGCCACAGCCGGAAAAGCCCTGGGTTTGAATCCTGATGCTGCCACTTCCTGGCTCTGTGGCCTTCGGGGGAAAAAACCAATTTCTGTGCCCATTTTTTTAGTTGGAAAACAGGTGGCCAGGGTTTATTGCAGCCTTGGTATGAAGTTGAGTCAGAATGTATCTTAAATGCTTAGTGCCTGACACACAGGGAACGCTCTGTAAATGGTCTGATTCTTATTCGAGTGGGAGTTCTGTGGATTCCGGGAAGCCAAGTAAGGTAAGTTATCAGCTCCTCCAATATCCCTAGAAGCGCCAAACCACCGTCCCAATAGACTCGTGATTTCATCTCCCCACGCTGGACAAGTAAGGCCCAGAGATGACTGAGGCCTGGCTCACCAGGCTGGGAAAGTGTCCACACCATCTCCAGGGACTCCAGGAGTCCAGGTTCCAAGCCGAGGTCACTGGGGCTTCTGGGCATCTTGGAACCCTGCAGAAGTGATGGCTCCTGTCTCTTTTAGGTGATCATGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAGAAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAACCGAGATACAAGGTAGCCTGTGCTGGGGCCATGTGGCTGCAGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTN
|
pathogenic
| 4,755 |
Mutation found at chromosome 1 position 21570324, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia']
|
AGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTGAGGTCAGGGATGGTGGGTCCTCAGGGAGAGATTTTTAAGTGAGGGAAGGAAACAAGTAAAGGCCTCAGACTCTGATAGCTGCTGGGGTCAGTCCTTCCGACTCTCCCTAGCCCCCGGCATGTGCTGACACAGCCCTTCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTAAGTGGAGGGGGTGGAGGGGAGGATGCATGGCTCGGAGCCTGGTGGCCGGAGCTGCGTGTGGCCAGCACCTGGGGACAAGGCCCTAGCCTGACGCCCACTTAGGGGCCTCTGCTCTTGGGCTTCAGGACCTGGGAGAGGCAAGGAAGGGGGTTCTGGTTCCTGGAATTAGGCCTGAAATCTGCTGGCTGTGCAGGGGGATTAGCCTCATTGGGCACAAGAAGAAACTGAAGCTCAGAGAGGGGAGTGGCCCGCGGCATGTGGCACAAGTGACAGCGGTACGGCCCAGGCAAGTTTGAGCCCTGGCTGGGAACTGGGACTTAACAGCTCCTGGGCTATGGAGCCTGGGACCTGGAGTCAGCTCTACTGTGTGCATGGCCAGGGCAGAAGCCAGCCAAGTTATCTCTGCCCATCCTGACGATTGCCCTCCTCCCCAGGCAGTGGGGAGCATGTGGTGAGGGCCCAGGGGCAGCTTCAGGTCTGGTGGGATGCAGCCCTGAGCACCACCATGCAGCTATCCGGGTTTTCTTTTCCAGCTGTCTGTAGTGCCAAGCAAGTGGTGGCAAAATCTCCTGCAGACATTTCCCAAGGAACACAGCTCCGCGTCCTGGGTGTCATTAGAGGTTATGGGCTCAGAGCTGTGCACCTGGTGGGTCCTCCAGACACATGCACACAGCCTCTTGCTTGCCTGGGTCACATGGCACACACCCAGTACCACATGGGCTGTGCATGCACCCGTGTATCATGCTGGTTTTGCTCATGGATCTTAGAGCCAGAGTGCTGGGTTCAAATCCAGCTCTACCACCTCTAAGCTGTGTGACCTTGGGCAAGTGATTTCTCCTCTTTCTGCCTCAGTTTCCTCTTCTATAAAGTAGGGATAATGATGCTCCCATAAAATGGAGATAGTGATGGGGCTGGAGACAACCCCTGGGTTGTCATGAGCATGACATGAACTTGTGTTGTATAAGTTATCTGTTGCTGTATAACAAATTATCTCAAAACTTAGGCCAGGTGCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAGCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACGAGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTA
|
AGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTGAGGTCAGGGATGGTGGGTCCTCAGGGAGAGATTTTTAAGTGAGGGAAGGAAACAAGTAAAGGCCTCAGACTCTGATAGCTGCTGGGGTCAGTCCTTCCGACTCTCCCTAGCCCCCGGCATGTGCTGACACAGCCCTTCCTCCTAGCACTCCCACTTCATCTGGAACGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTAAGTGGAGGGGGTGGAGGGGAGGATGCATGGCTCGGAGCCTGGTGGCCGGAGCTGCGTGTGGCCAGCACCTGGGGACAAGGCCCTAGCCTGACGCCCACTTAGGGGCCTCTGCTCTTGGGCTTCAGGACCTGGGAGAGGCAAGGAAGGGGGTTCTGGTTCCTGGAATTAGGCCTGAAATCTGCTGGCTGTGCAGGGGGATTAGCCTCATTGGGCACAAGAAGAAACTGAAGCTCAGAGAGGGGAGTGGCCCGCGGCATGTGGCACAAGTGACAGCGGTACGGCCCAGGCAAGTTTGAGCCCTGGCTGGGAACTGGGACTTAACAGCTCCTGGGCTATGGAGCCTGGGACCTGGAGTCAGCTCTACTGTGTGCATGGCCAGGGCAGAAGCCAGCCAAGTTATCTCTGCCCATCCTGACGATTGCCCTCCTCCCCAGGCAGTGGGGAGCATGTGGTGAGGGCCCAGGGGCAGCTTCAGGTCTGGTGGGATGCAGCCCTGAGCACCACCATGCAGCTATCCGGGTTTTCTTTTCCAGCTGTCTGTAGTGCCAAGCAAGTGGTGGCAAAATCTCCTGCAGACATTTCCCAAGGAACACAGCTCCGCGTCCTGGGTGTCATTAGAGGTTATGGGCTCAGAGCTGTGCACCTGGTGGGTCCTCCAGACACATGCACACAGCCTCTTGCTTGCCTGGGTCACATGGCACACACCCAGTACCACATGGGCTGTGCATGCACCCGTGTATCATGCTGGTTTTGCTCATGGATCTTAGAGCCAGAGTGCTGGGTTCAAATCCAGCTCTACCACCTCTAAGCTGTGTGACCTTGGGCAAGTGATTTCTCCTCTTTCTGCCTCAGTTTCCTCTTCTATAAAGTAGGGATAATGATGCTCCCATAAAATGGAGATAGTGATGGGGCTGGAGACAACCCCTGGGTTGTCATGAGCATGACATGAACTTGTGTTGTATAAGTTATCTGTTGCTGTATAACAAATTATCTCAAAACTTAGGCCAGGTGCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAGCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACGAGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTAN
|
pathogenic
| 4,775 |
Does the variant on chromosome 1 at location 21570348 affecting gene ALPL (alkaline phosphatase, biomineralization associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Infantile_hypophosphatasia']
|
GCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTGAGGTCAGGGATGGTGGGTCCTCAGGGAGAGATTTTTAAGTGAGGGAAGGAAACAAGTAAAGGCCTCAGACTCTGATAGCTGCTGGGGTCAGTCCTTCCGACTCTCCCTAGCCCCCGGCATGTGCTGACACAGCCCTTCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACAATGTGGACTACCTATTGGGTAAGTGGAGGGGGTGGAGGGGAGGATGCATGGCTCGGAGCCTGGTGGCCGGAGCTGCGTGTGGCCAGCACCTGGGGACAAGGCCCTAGCCTGACGCCCACTTAGGGGCCTCTGCTCTTGGGCTTCAGGACCTGGGAGAGGCAAGGAAGGGGGTTCTGGTTCCTGGAATTAGGCCTGAAATCTGCTGGCTGTGCAGGGGGATTAGCCTCATTGGGCACAAGAAGAAACTGAAGCTCAGAGAGGGGAGTGGCCCGCGGCATGTGGCACAAGTGACAGCGGTACGGCCCAGGCAAGTTTGAGCCCTGGCTGGGAACTGGGACTTAACAGCTCCTGGGCTATGGAGCCTGGGACCTGGAGTCAGCTCTACTGTGTGCATGGCCAGGGCAGAAGCCAGCCAAGTTATCTCTGCCCATCCTGACGATTGCCCTCCTCCCCAGGCAGTGGGGAGCATGTGGTGAGGGCCCAGGGGCAGCTTCAGGTCTGGTGGGATGCAGCCCTGAGCACCACCATGCAGCTATCCGGGTTTTCTTTTCCAGCTGTCTGTAGTGCCAAGCAAGTGGTGGCAAAATCTCCTGCAGACATTTCCCAAGGAACACAGCTCCGCGTCCTGGGTGTCATTAGAGGTTATGGGCTCAGAGCTGTGCACCTGGTGGGTCCTCCAGACACATGCACACAGCCTCTTGCTTGCCTGGGTCACATGGCACACACCCAGTACCACATGGGCTGTGCATGCACCCGTGTATCATGCTGGTTTTGCTCATGGATCTTAGAGCCAGAGTGCTGGGTTCAAATCCAGCTCTACCACCTCTAAGCTGTGTGACCTTGGGCAAGTGATTTCTCCTCTTTCTGCCTCAGTTTCCTCTTCTATAAAGTAGGGATAATGATGCTCCCATAAAATGGAGATAGTGATGGGGCTGGAGACAACCCCTGGGTTGTCATGAGCATGACATGAACTTGTGTTGTATAAGTTATCTGTTGCTGTATAACAAATTATCTCAAAACTTAGGCCAGGTGCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAGCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACGAGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATT
|
GCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTGGCTCTGCAGGCGCCCTGGGGGGACAGATGACAGGGAGGAGCCAAGAAGCTCTGGGCAAGTAGGAGGATGGAGGGAGGAGGCAGCGCTGGATGGATCAGGGGAGGACATGGTTGGCCCCAGTGTGCAAGCCATGGAGGGAGCGGAGAAGCCCTCCACAGTGAGTCCCCCTTGGCTGGGGGATGGAATAGATTGGGGAAGGGAGGCTGGAGGACGGAATAGATTGGGGAAGGGAGGCTGGAGGGACCTCTGGAAGGACCCCAAGCTCCAGCTCCTTGGAGTGGCCTCTGGCCCTTTAAATCTGAGCTGCTGGCCTGCGGGCCTGGGGCAGCTGGGGTCTGGAAATGACTGTGGTCAGGGCTGAAGACAGTGGGGAGTAGCCTGGCAGCCACTTTGATGTCACTCTGGGGTTGGGTTTCTGCAAGTTCCAGGACTGGCCCCTGGGGAGGCCTCGTGGGATGAGGCTGGGCCAAGAACGAGGTGGGGGTAGGGACTAGGGAAGGGCCCCCGTGGGGATGGTGGGGGTGTGGAACTGAGTGGCTTTGAACCCTTTCCATCCCTTCTGAGTCAGCTCAGGCTGGGCCAGAGCCCCCTCCAAGCTCAAGCCAGAGAGACACCAGCCTCAGTTTCTCTACGTGGCACATGGGGCCAGAGCTTCATCCTCCTTGCCCAGGCAGGGTGCTTACCCAGGAACTCGGTCTAGACCTCTAAGACGGGGAGAGAGCGTCTACACCATGGCCCCGAGCCTGGCCACATTGGGTATCAGGTCCCGTGTAGGCCCCACATCCCTAGAAAATCATGCCTTAAGAGTGGGTTTTAGAGTCAGTTTCACCTTTACCATTCAGTGGCTACGTGGTCTGTGTGCCTCGGTGCCCTCATCTGTAAAGAGGGAATAACAGGAACAACCCTGGAGGGAGAGAGCACAGGAGAGCCACCTCCAGGAAGCAGGGGCTGGGAGGGGGGGTGCGGAGCCCCACTTTCTGAGCCTCTCTGCCCTCCTCCCCACAACAGCCCCTGAGGCTTGCAAAGCCACTGATCCCACTGTCATTGCTAAGAGAAGGCAGGGGGTCTTCTAAGGGCACACAGCAGATCCTTGGTAGTGCTGGGACCCCTGGTCCAGGCCCACATGGTGCCCTCTCCAGGCCTGGCCTAGCTGGCTTCTTTCTGTGGACTTTATTCCCTGGGGAAACAGCCACGCCTTTATCTCCCCTCCCAGATGGGGTCCCCAAAGCAGAGCTGGGGCTTTGCTTCCTCCCTGGCCCTCCACGGCCTCCAGAAAACAGCCCACACCTGTCAGCACTCAAGGCCCCTGGAGACCTGTGCCTGGCTCTTCTTTGCCCCATGATCCCTCCTCCCTGGAATAGCCTTCCTGACCCTAGGCTGTTCAATTCCCACTTGTCCTCCAGGGACCCATTAGAACATCACCTCCACCAGGAAGCCCTCCCTGGTCCTGTGTCTGGGCTCACGGCCTCCCTGGGCTCTATCAGAATTCTCATCCCCTTGCATTATACATTATAATGGGCTATTGATTCATCATTTCTTGAGGTCAGGGATGGTGGGTCCTCAGGGAGAGATTTTTAAGTGAGGGAAGGAAACAAGTAAAGGCCTCAGACTCTGATAGCTGCTGGGGTCAGTCCTTCCGACTCTCCCTAGCCCCCGGCATGTGCTGACACAGCCCTTCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCACAATGTGGACTACCTATTGGGTAAGTGGAGGGGGTGGAGGGGAGGATGCATGGCTCGGAGCCTGGTGGCCGGAGCTGCGTGTGGCCAGCACCTGGGGACAAGGCCCTAGCCTGACGCCCACTTAGGGGCCTCTGCTCTTGGGCTTCAGGACCTGGGAGAGGCAAGGAAGGGGGTTCTGGTTCCTGGAATTAGGCCTGAAATCTGCTGGCTGTGCAGGGGGATTAGCCTCATTGGGCACAAGAAGAAACTGAAGCTCAGAGAGGGGAGTGGCCCGCGGCATGTGGCACAAGTGACAGCGGTACGGCCCAGGCAAGTTTGAGCCCTGGCTGGGAACTGGGACTTAACAGCTCCTGGGCTATGGAGCCTGGGACCTGGAGTCAGCTCTACTGTGTGCATGGCCAGGGCAGAAGCCAGCCAAGTTATCTCTGCCCATCCTGACGATTGCCCTCCTCCCCAGGCAGTGGGGAGCATGTGGTGAGGGCCCAGGGGCAGCTTCAGGTCTGGTGGGATGCAGCCCTGAGCACCACCATGCAGCTATCCGGGTTTTCTTTTCCAGCTGTCTGTAGTGCCAAGCAAGTGGTGGCAAAATCTCCTGCAGACATTTCCCAAGGAACACAGCTCCGCGTCCTGGGTGTCATTAGAGGTTATGGGCTCAGAGCTGTGCACCTGGTGGGTCCTCCAGACACATGCACACAGCCTCTTGCTTGCCTGGGTCACATGGCACACACCCAGTACCACATGGGCTGTGCATGCACCCGTGTATCATGCTGGTTTTGCTCATGGATCTTAGAGCCAGAGTGCTGGGTTCAAATCCAGCTCTACCACCTCTAAGCTGTGTGACCTTGGGCAAGTGATTTCTCCTCTTTCTGCCTCAGTTTCCTCTTCTATAAAGTAGGGATAATGATGCTCCCATAAAATGGAGATAGTGATGGGGCTGGAGACAACCCCTGGGTTGTCATGAGCATGACATGAACTTGTGTTGTATAAGTTATCTGTTGCTGTATAACAAATTATCTCAAAACTTAGGCCAGGTGCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAGCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACGAGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTN
|
pathogenic
| 4,780 |
Mutation at chromosome 1, position 21573677, within ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia']
|
ACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGT
|
ACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCCATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTNNNNNN
|
pathogenic
| 4,798 |
Is the chromosome 1, position 21573703 variant in ALPL (alkaline phosphatase, biomineralization associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Infantile_hypophosphatasia']
|
GAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACG
|
GAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGN
|
pathogenic
| 4,804 |
Mutation at chromosome 1, position 21573726, within ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Infantile_hypophosphatasia']
|
AAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAG
|
AAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGNN
|
pathogenic
| 4,806 |
Assess the variant on chromosome 1, position 21573763, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Infantile_hypophosphatasia']
|
TGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCA
|
TGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCAN
|
pathogenic
| 4,808 |
Chromosome 1, position 21573779, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Inborn_genetic_diseases', 'Infantile_hypophosphatasia', 'Osteogenesis_imperfecta', 'likely other unspecified diseases']
|
TGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAG
|
TGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAGCTGACGTGGGAGGCTTGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACCAGTTTGGGCAACAGAGTGAGACCCTGTCACAAAACAAAACTTAACAGTTTAAAACAAGAGTAAACATTTATTGCCTCACTCAATTTCTTTGGGTCAGGAATCTGGGGACAGCTTAGCTGGGTCTCCCATGAGGTCACAGTCATCTGAAGGCTTGACTGGGGCTGGTGCTTCCAGGATGGTTCACTCACATGGCTGGCGAGTTGGTCTTGGCTGTTGGCAGGAGGCCTCAGTTCCTTGGCACATTGCTCTCTATAGAGCAGCTTGAGTGTCCTCATTACATGGTGGCTGGCTTCCCACAGAGATCCAAGAGTATATAAACAGAAGCTACAACATTTTATGCCCCAGCCTTCGAAATCACACACCATCATTTCGGTGGCATTCTATGGCATACAAAGGCTAGTGTGGGAGGAGACCACACAAGCGCGTGAATTCCAGGGGGCAGGGGTTATTGGGCACCATCTTGGAGGCTGGCTTTTGCCTGCTTCCAAAGCGCTAACAGCATGTGGCACCAAGTGAACCCTGTGTGCATGGGAGCTATTGTTCGGCTGTGTACCCACTCACAGAGGGGCAGGGTGTTCTGGAAGGACACCAGAATTGGAAGGACACCAGAATCAGAAGCACCAGCATGGGACACATGGAACTTTGTGCCATGGGCAAGGAATGGATCATTCTCCTTATGTCACAAGTGAGAAAACGGAGCCCAGTGAGCAGGAGGGACAATGATTCCAAACCTTCTGCTGTTTCGCTGCACAGGCCACCGTGCCCTTCAAATCCAACATGTAAATGCACACACACTCTAGCGGCCCCATCGAGTCCAGGCTGTGACCCTCTGCCTTGGGGCCACAGTGCTGTGTGCTGAGCCCTGCAGGCTGGAGGCAGACTGACTGATGGATTTGAACCCCAGATCTGCCACTTCTCAGCTGACAATAGCAAGTTATGGAACACCTCTGGGCCTCAGTGCTCCTCATCTGTGAAACGGGCATGGTGATCCCACCGCGCCATAGTGGTGGGAATGAAAATGAAAGGAATTGGGGCTGGGTGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTTAAAATACAACAAAAATTAGCTGGGTGTGGTGATGCATGTCTGTAATCCCAGCTATTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTGCACTCCAGCCTGGACAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAAAAAAAAGGAATTGGGGGCCTAATTCTGGGCCCACAAAAATCACCCAGATAAGGATCCTCCCAGCCACCATACTCTACCCCAAGCTGGCTGTGGGGAGCCTGCATTCCCTGAGACACCCCAGCTTCCTTGGAGTCCTCCTAGCCGGGTCACAGCCTCTCAGCATCCACATCCTCCTGGCGTCCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGNNN
|
pathogenic
| 4,811 |
Determine whether the variant at chromosome 1, position 21575749, in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']
|
ACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCAC
|
ACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCA
|
pathogenic
| 4,829 |
Determine whether the variant at chromosome 1, position 21575813, in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']
|
GAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCC
|
GAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGC
|
pathogenic
| 4,839 |
Evaluate the clinical significance of the mutation at chromosome 1, position 21575831 in gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']
|
CTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGC
|
CTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCNNN
|
pathogenic
| 4,840 |
Variant in ALPL (alkaline phosphatase, biomineralization associated), chromosome 1, position 21575846—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Decreased_circulating_alkaline_phosphatase_activity', 'Infantile_hypophosphatasia']
|
AGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTT
|
AGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTNN
|
pathogenic
| 4,841 |
Evaluate if the mutation on chromosome 1 at position 21575900 in ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia']
|
TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTT
|
TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTT
|
pathogenic
| 4,853 |
Variant at chromosome position 21575900, chromosome 1, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']
|
TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTT
|
TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTN
|
pathogenic
| 4,854 |
Considering the genetic mutation at chromosome 1, position 21575913, impacting ALPL (alkaline phosphatase, biomineralization associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']
|
GTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTA
|
GTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTANN
|
pathogenic
| 4,858 |
Regarding the variant found on chromosome 1 at position 21575916 in gene ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia']
|
CAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTT
|
CAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGCGCCGGCCAGGGGCCTTGCAGACAGACCTGAATTCTTGGCCTGGCGCTGCCATCTGCTGGCGGTGTGACCTCTACCTGTGCACTTCTGTTATGTGAAGCCAAAAATAGCATCTGTCTCCTGGAGAGTGATTCGCCTCCATTGTGTTCAGAGACATAAAGTACTTGGAACGGGGCCCAGTAAAGAATAAACCGTGTTTCTATTATTAGCCTTGTTATGGCTACACAATAGTTAAGGCGGGAACAATAGGAAGTGTGAGGAAGTGATAAAGATTCCAGAAACCTTCCAGTGCTAACAGCCCTTGCCCACCGCAGTTCCTCATGTTGCCCTGCTAACATCGGTATGTATACACACACATGCACACACGTGAACATGTTTGCACATATGCTCCCCACGCATACACACATGCTCAGCGCCTCCGCCTTCCAGAGGTGAGCGTCCGCCAGCCCAGCTTGGCTGCTTTCTTGCCAAACCCCGGGGTTCCCACTCGAGCACAGCGGTCTTGGCCTGGCCCCGAACAGGCCTCTGACGCCAAGGAGCCAGCCAGAAACCAGCGGTGGTGAGCACGGGCTCCCCCGGGAGCGGTTTCCTTTGTGAGCAAGGCCAGGATGGGCCGCCCAGGCTAGCTGCTCCCAGAGCCACAACAAAGGGAGGACACGCCCTGCCAGCCTGCCGGGCCACCGCGAGGCTCAGACTGGTGGGAACAGAGGGCTGCCTGGCGCCCAGGACCCTCCAAGCTGGGAGTGTCCACCAGGCAGCGCCCTCCTGTTAGCAAGGGAAGTGTTCCTTTAAGGTCACAGAGCCCTCGGCTGCTGGGCCAAGCCTCCAGCCAGGCCCCTGCACTCACCCGGAGGTGGGAAGCGGGGGCGGAGGCTGCGAGGGTTCAGGCTTCGGCAGGGCTTTGTGGAACCTGCCACAGGCACTGCCCAGGCACTGGGGACTTTCACTACCTCTGGGAGCTCCGTGCTTTCTTTTTAGAGGGGATGATTTGAGGTAGAGATGAAAAACGGGGTTAGGACGAGTCACACCTGAATTCACATCCTGGCAAATCCCACCGTGGGCTTCCCCACACTAGGCCTCAGTTGCTCCATCTGTAAACAGGACTGATCATATTCCTCTCTGCCCAGCATTGCTGTTCAGGGGAAAAGAGACATGGGTGTGTCGTGCCTGGCACATTGTAGGGATTCCAGCGTGCCCCCTTCCCTACCTCCCAAAGGCTTCAGTGCCTCCTTCAAGCAGCTAGAGACAGTGCTGGGAGGGGCGGTGGGAGGAGTACAGCTTCCCGGCCTGGTGAATTTGATTACACATCTGGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATT
|
pathogenic
| 4,859 |
Is the genetic variant on chromosome 1, position 21577543, gene ALPL (alkaline phosphatase, biomineralization associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['ALPL-related_disorder', 'Adult_hypophosphatasia', 'Hypophosphatasia']
|
GGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGT
|
GGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTN
|
pathogenic
| 4,905 |
Evaluate if the mutation on chromosome 1 at position 21577623 in ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Hypophosphatasia', 'Infantile_hypophosphatasia']
|
AAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACA
|
AAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACANNNNNNNNNNNNNNNN
|
pathogenic
| 4,913 |
Assess the variant on chromosome 1, position 21577631, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia']
|
AGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACAC
|
AGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACACN
|
pathogenic
| 4,914 |
Considering the genetic mutation at chromosome 1, position 21577769, impacting ALPL (alkaline phosphatase, biomineralization associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
TGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACACTGATCATTTACAACATGCCAGGTCTGTGCTTGACGCTTTATGTGGATTCATTGCATTTAATCCTCATTAGGAAATAGGCCCCCATCATCCACATGTATAGGTGAGGACCCTGAGGGTTTGGGAAGTGAGGTGATTGCC
|
TGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACTGGGTGGGGAGGAAGAGTTACTGGGGATGGGGAGAAAATGCAGGGTGAGGCAGGGGAGTGAGTTGAGTGGTGGTCGGGTAGACAGGCAGGTGGGTGGATGGATGGCCACGTTGACCATGGCTGGGCGAGAACGTGGATAGATGAATGAGAGAGGATGGCTGGCTGGATGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACACTGATCATTTACAACATGCCAGGTCTGTGCTTGACGCTTTATGTGGATTCATTGCATTTAATCCTCATTAGGAAATAGGCCCCCATCATCCACATGTATAGGTGAGGACCCTGAGGGTTTGGGAAGTGAGGTGATTGCCN
|
benign
| 4,919 |
The mutation impacting ALPL (alkaline phosphatase, biomineralization associated) on chromosome 1 at position 21578333: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
GGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACACTGATCATTTACAACATGCCAGGTCTGTGCTTGACGCTTTATGTGGATTCATTGCATTTAATCCTCATTAGGAAATAGGCCCCCATCATCCACATGTATAGGTGAGGACCCTGAGGGTTTGGGAAGTGAGGTGATTGCCCAAATGCCCCCAAGCTGTGGAGCTGGTATTTGAAGCCAGGTGTGTCCTATTCCAAAGCTCCTGTACTTAATACCATCCTTTATTTGGTTATAACACACTTCAAACCTCTTGTCAACCAGGTCCTGAAGCAGACAATACTAATGACTCATGACATACACCAGTTAAATATAAACTCAGGAAGATGAGAAACCGTATGTCAGAAGTGGACTTCTTCAGGATTGAAAATGCAAACTAAGCAGATTTGTCTCTGAGCTTCCTAGCAGTCCTGACAAAAAAAAGGGAAGCACAGCCAAGCTGACACTGGGATAAAAGATGAAACTATAGGCCAGGCACAACGGTGCATACCTGTAATCCCAGCACTTCGAAAAGCTGAGGTGGGAGGATTGCTTGAGGGCAGGAGTTCAATACCAACCTGGGCAACATAGCGAGACCCTGTCTCTACAAAAAATAAAAAAATTAGCCAGGTATGGTGATATGTGCCTGTAATCTAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTAGAGCCCAGGAGTTAGAGGCTGCAGTGAGCTATGATCATGCC
|
GGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACCCAGGGCTGGGAGGGGACAGGGCACCCCTCGGGGATGGGCTTGGGAATAGGGTGTCAGCTTGTGGTCAAGGTCAGGGGTCTCAGAATGACTGGGGCTTGAGTCCCAGTTTGATTGTTGAGTCCCAGGTTGTTTGATTCAAACAACCTCAGTTTGAATCGCCTTCTACAATCTAGCAGCTCTGAGACTTTGGGCATGTGACTTCATCTTTCTCTGCTTCAGTTTCCTCTCTAAAAGGGTTCTACCTTTGACGGTTGTCTGAATGACCAAATGGGTCTGATGAGCTTAGCATAGTGCCTGGCACAAGTAGGTGCTCAATATTTTATACTCATTTTTCTTGGCCCTATAATATTCCAGTATACGAGACTTTGCAGTTAGTTCATCCCATCCCATATCATTCATTCGTTCTTGATACTCCCAGTGGTTCTAGGGGGTCTAAAGATGCAGCAATGGTAAGAGTCTCCCCGTCAACTCTCCCTGCTAATCCAAGCAGCCCAAATGAGGTTAATTTTCTCTGTTGGGGGTTGAGAATGCAGACTCCTGTGTCAGAACAGGCTCAGGTTCAAATCCCGTGGCCTTAGGCAAAATGACTTTCCCACATTGAGCCTCCTTTTCCTCTTCTGTGAAATGGGAGCATTCAAGCCAGCCTGGAAGGGAGATGGAAAAGCTGCGTGCGCAGCGCCAGGCCCCTGGCAGGCTCTCAGCAGGTGTTTCCCCTGGCCCACAGCTCACAACAACTACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTCCCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCCAGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTGAGCGTCCTGTTCTGAGGGCCCAGGGCCCGGGCACCCACAAGCCCGTGACAGATGCCAACTTCCCACACGGCAGCCCCCCCCTCAAGGGGCAGGGAGGTGGGGGCCTCCTCAGCCTCTGCAACTGCAAGAAAGGGGACCCAAGAAACCAAAGTCTGCCGCCCACCTCGCTCCCCTCTGGAATCTTCCCCAAGGGCCAAACCCACTTCTGGCCTCCAGCCTTTGCTCCCTCCCCGCTGCCCTTTGGCCAACAGGGTAGATTTCTCTTGGGCAGGCAGAGAGTACAGACTGCAGACATTCTCAAAGCCTCTTATTTTTCTAGCGAACGTATTTCTCCAGACCCAGAGGCCCTGAAGCCTCCGTGGAACATTCTGGATCTGACCCTCCCAGTCTCATCTCCTGACCCTCCCACTCCCATCTCCTTACCTCTGGAACCCCCCAGGCCCTACAATGCTCATGTCCCTGTCCCCAGGCCCAGCCCTCCTTCAGGGGAGTTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACTCACTCCAAGACCACCAGGGTCCCAGGAAGCCGGTGCCTGGGTGGCCATCCTACCCAGCGTGGCCCAGGCCGGGAAGAGCCACCTGGCAGGGCTCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACTCTCCTGTTTGGAACGGCAAAAAAAAATTTTTTTTTTCTCTTTTTGGTGGTGGTTAAAAGGGAACACAAAACATTTAAATAAAACTTTCCAAATATTTCCGAGGACAGAGCTGAGTCTTTGTGGTCAGTGAGAAAAAGACTGAAAGAAGCTTATTTCTCTGGGAAGAACTGGCCTCAGGGCCCGGGGTACAGGTGGGTTGGACAGGGTGGAAAGGCCTTCTGCTGTCCTGGGGGCTTCACACTCCCTACCTGTGCCACTTTGGACACATAGGTTTGTGTCTCAGTTTTCTTGTCTGTGAAATGGGAGACAACCCCCTTCTGGGTTATTGTGAGGATTAAAGAGGAGGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCATTTGAGGTCAGCAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATACAGAAATTAGCCAGGCATGGTGGCGCGCACACCTGTAGTCCCAGCTCCTCTGGACACTGAGGCAGGAGAATCGCTTGAACCCAAGAAGCAGAGGTTGTAGTGAGCCGAGACAGCGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAAACAAACAAAAAAAAACAAGATAAAAGAGGAGTGCCTGTATGCCCAGAAACCCACAGCAAGGAGGACTTCAGGGGCCCAGTGGCAGCCCGGCTGCATGATACCCACAAACAGCACTACATACCTTGGCCCATTTCATTCATTCAACAAATACAGACTACGTGCTAGGCATGGTATTAAGTCTTAAGAATTGTTGGCCGGGTGCTGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAAGCTGAGGCGGGTGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCCATCTCAGAAAAAAAAAAAAAAAAAAAGAATTTAGTGGTGAACATGACAGACAGAAGGCTGAACAGACAGAGGGCTCCTTGCCCTCACAGAGCGTCAGCCCAGCTTAGCAACTGTGATCTTTCCATTTCTCATATTCACACCTTGGTACTACACTCAGGCCTGCAGCCGACCTTGTTGGGATACAGACTTGTCCAAGTTTGCTCCTCTTGCTTCATTGAAATGAAAATTCCTTTAATAAGGATAACAATCATGACAATTAACACTGATCATTTACAACATGCCAGGTCTGTGCTTGACGCTTTATGTGGATTCATTGCATTTAATCCTCATTAGGAAATAGGCCCCCATCATCCACATGTATAGGTGAGGACCCTGAGGGTTTGGGAAGTGAGGTGATTGCCCAAATGCCCCCAAGCTGTGGAGCTGGTATTTGAAGCCAGGTGTGTCCTATTCCAAAGCTCCTGTACTTAATACCATCCTTTATTTGGTTATAACACACTTCAAACCTCTTGTCAACCAGGTCCTGAAGCAGACAATACTAATGACTCATGACATACACCAGTTAAATATAAACTCAGGAAGATGAGAAACCGTATGTCAGAAGTGGACTTCTTCAGGATTGAAAATGCAAACTAAGCAGATTTGTCTCTGAGCTTCCTAGCAGTCCTGACAAAAAAAAGGGAAGCACAGCCAAGCTGACACTGGGATAAAAGATGAAACTATAGGCCAGGCACAACGGTGCATACCTGTAATCCCAGCACTTCGAAAAGCTGAGGTGGGAGGATTGCTTGAGGGCAGGAGTTCAATACCAACCTGGGCAACATAGCGAGACCCTGTCTCTACAAAAAATAAAAAAATTAGCCAGGTATGGTGATATGTGCCTGTAATCTAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTAGAGCCCAGGAGTTAGAGGCTGCAGTGAGCTATGATCATGC
|
benign
| 4,926 |
Considering the variant on chromosome 1, location 21841292, involving gene HSPG2 (heparan sulfate proteoglycan 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
CAGGCTCCAGGACCCTGCAGCGCCTGGAGACCTCTGGATGGGGTTCCTGGGGTTCTGTGTGGGGTGGAGCCTAGTCGGGGGGCTCAGATCTCCATTTGGTGCAGACAAAGAAGGGATGAGGCCTTACTCTCCACGTGCAGGATGATGGTGGCCTCAGCGTGCCCAGCAGGGCTAGTGGCATTGCAGATGTACTGGCCCGAGTCCTGCTGGGCTACCCGGGGTATGATGAGTGTGTCACCTTCCAGCCGGTGCTGCCAGGGCAGTGGGGAACGCAGCTTGGACCAGTGGATGGTGGGCGCGGGGCTGCCTGTGGAGTCGAGTGGAAGATGACAGAAGTCACTGGGCTACCTCAGGGACCCGCAGAGGGTGGCCATGGTGAGGAAGGGCCCTGGGTGATCCTGTCCCTCTATGGGGACCCCAGTTGGGTTCCTCGGCCATCACTGGGGGATGCTAGCAACACGGTCTCCCCGTACTCCCCACCCCTGGGCATGACATCATCTCTAGATCACATGTGTCTACATTTCAGACCCCAGGGCATCCCTGCCCTGCCAGCCCTATGTGCCAGCCCTTGGTCACACCTGTGGCTGAGCAGCGCAAGGTGGCCGTGTGTCCAGCCTCCACAGTCAGCTCAGCTTCTTCAGCTTGGACCTGAGGGGCCCCTGGGGCCATGGCGCCCGTGTCCACGATCACCTCCACCTGCTTCTGTGCTGTGCCTAGTGCATTCTGAGCAAGGCACACATAAGTGCCCGCATCTGATGGTTTAGCTGATGAAATCTGGGAGAAAGCAAGGAGGCTGGTTATGTGGGGACTCAGTGGGGACGCTGATGTCAGCCCCAGCTCTGGCTTGGTCTTCCCTATTTCCTCTACCCTGCCTTGGTATCTATTTATTTACTTATTTATATATTTATTTTTTGAGACAGGGTCTTACTCTGTCGCACAGGTTGGAGTGCAGTGGCACCATCTGGCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCTCGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTATGTGCCACCACACTCAGCTAATTTTGTTTGTTTGTTTGTTTTTTGAGGGTCTTGCTCTGTCACCCAGGCTGCAGTGCTGTGGCACGATCTCTGCTCACTGAAAGCTCTACCTCCCAGGTTCACATCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACCCGCCATCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTGTGAGCCACTGCACCCAGCCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCTTCCTGCCTCAGCCTCTCCAAGTGCTGGGATTACAGGCACGTGCCACCATGCCTGGCCCTTTCCTTGGTTTTTAGCTGTCCCATCTGGTTGCTTGAGGGCTCACCCTCATGACACCCCATTAGTCCATCCATCCACTTGGCCTTCGACCCACCCTCCCACTCATTCTTTCTTCCTTCTCCTACCTTCCTTCTCTCTTCCCTCTCATCTTCCAGTCTATTCGTCATCCACCCATCCCATCCCATTCCTCCCTTCCTCTCTCCATCCACTCATCACCACCTGCCCATCCACTACTATCTCCTCCAAGCACCCGCTCAAGGCTGGGCCATGGACTGGGCCTCAGACCCAGAGAGGCAGCCCCGGCTTCACCTGCAGCACCGCGTGGCTGTCCATGAGCCCATATGTCCGCTGCTCCAACTTGGCAGGGGTGCTGCTGATCCGGGTCCAACGAGCAGAGGAGCGGGGCTCCCCGGCACTGACACACTCCAGGGTGACAGCCTTTCCCACTTTCACCCACACGGGGCCCTCGGGGAGCACGGACACTGTAGGGGGCCCTGTGCGGAGGAATGACAACCACTGACACACAGGCAGGGCTCTGCTGCTCACCCACACTGCCATGGCCTCCAGCTTAGTAACTGCTGGGTGGGCACCTGTCTCCCCACTGCACTGAGGTGGAAACTGAGGCTCAGAGAGGGAGAATGCCCAAGACAGAGTCAATGGTGGAAGGAGGATTTAAACTTGGAGGCTCTGAGCTGAGAATCAGGGCTGGAAACAGGGCAGAGCCCCACAGGGTCAACGTCCCCTCACCGTGCACACTGAGGTTCACCACACTCTGGGCCACACCGTAGGCATTGGAGGCCACGCAGCGGTAGGTACCGTGGTTGCTGGGCCGGGTGCCCACGATGGTGATGATGGAGCCATTGGGACTGATGTGGACGTTGTCTGTGAGGTTGCATGGGGGAGGGTGAGAGAGGATTGACCTGGTCCTTCTCGTGTCTTGGTGCTGCCAGCCTGTGCCCCTGGGCCCACTTCCCCAATCCCTCCGGCCTGGGTGTGTCTAGCTCATGGAGTCGCAGATAGCAGAAAGTAACAAAGGCCTTGGAAACTCCTGGGTCCAGCGCTCTTGCCATACAGAGACGGGAAGGGCCTTACTCAGGGCCACACCATGAATGTGGGGCGTCCAGACTTCTGCCCCACCCTTGCACAGTGGGGATGACGGCACCCCCATGCCTGCCCCCAGCTTGCCCACCTGCCCACCAGCCTGGCTCACCCTCCAGCTCCTGGTTCCGGGTCTTCCACTCGAGGCTGATGGGGGCTGCCCCGTCATGGATGAGGCACTTGAAGCTGGCATCCTGGCCCTGCTGCACGGTGCTGCTGGGCGGGTCGATGGAGATGACCGGGCTCCTAAGGCCTGGGGCCAAAGGGGCAGAGGGCTGGGCTCAGCAGGGGTGGGCTTAGCTTCAGGGCCCTCCCTTCCCCCCTTGCCCATGGCATCTGCCATACTCACGGTAGGAAGACCCCTCACTGGGCGGGACGGTGACTGTGAAGGAGGCTTCTTGCTCAGGGCCTGGGCCGCTGGCTGCACGACACACATACTCGCCTGAGTCGGCAGGGGAGACGAGGTGGAGCCGCAGCTGGGAGCCATGGGTCTGTCAGAGCAGCGAGGGGACAGTTATCAGGGCAAAGTCCCCAGGACAAGGAATGTCCCCAAGCCCAACTGTGCCGGTACCCAAGAGTTCTCTCGGAAGCTCAGGGTCTCAGCTGGTAGGGCTGGTGGAAGCTTCATTCACAGAATCCTAGAGGTCCAACCCACTCACTTTACAGTGGAGGAAACTGAGGCCCAGGAAAGGATTCAGCTGCAGAGCCAAGAGAAAAACCCAGGTCTCCTGATTTGCAGGCTGGTGAACTCGTCCCGCAAACGTATTTTATCCCCTGGGGTCCCCAAGCAGGCTGGTGTTTGCATGAGGTTTGGGTACAGAAAGCAACTGCAGGTCTAACCTTGCCTGACCTGGAATCCTCCCCATCCTGGCCCCTGTACCTGGTGCCGGGCGGGGAGGCTGCCCCCGCGCTTGTACCACGTGACCTGGGCATGGGCCTGCCCGGGCACCACACAGTTCAGATCCAGAGTCTGCCCTTCAGTCACGTGTGAAGAGGAGGCCTCGATGTAGATGGGCTGGGCCAGTCCTGGAGCTGTGGGCACAGGGGGTGGGTGAGAGAGGCCAGGCTCCGGGGATCAAGGCAGGGGCTGAAGGTGGTGGCAGTGAAGACCAGCTCCAGTTGATCCTGGGGGCGCGGTGGCTTGAGAGTGGCTGATATAACCTAAGAAGGGTCTCCTTTCCCTGGGGACTCAAGGGTCCTCCTGAAACTCAGGGCTGGGGTCCCCCTGGTTGAGGGGACGGGACCATTGTCAGACTTGGGAACACCTGGGTTGGCTTGATCCTCCGTGGTAGGAAACCCCGCCTGCAGGCAACAATAAGTGCCCGGCTGGGAGAGAGGAGAGGAGCAGAGCTGGGAAGGAGCCCCGCGCCTGTGCTCTGGCATCGCCCACTGCTCCCTATCACTCACCAGGAATGGGTCCTGGGCTGGAGGGCTCAATTGTGACCAGGAC
|
CAGGCTCCAGGACCCTGCAGCGCCTGGAGACCTCTGGATGGGGTTCCTGGGGTTCTGTGTGGGGTGGAGCCTAGTCGGGGGGCTCAGATCTCCATTTGGTGCAGACAAAGAAGGGATGAGGCCTTACTCTCCACGTGCAGGATGATGGTGGCCTCAGCGTGCCCAGCAGGGCTAGTGGCATTGCAGATGTACTGGCCCGAGTCCTGCTGGGCTACCCGGGGTATGATGAGTGTGTCACCTTCCAGCCGGTGCTGCCAGGGCAGTGGGGAACGCAGCTTGGACCAGTGGATGGTGGGCGCGGGGCTGCCTGTGGAGTCGAGTGGAAGATGACAGAAGTCACTGGGCTACCTCAGGGACCCGCAGAGGGTGGCCATGGTGAGGAAGGGCCCTGGGTGATCCTGTCCCTCTATGGGGACCCCAGTTGGGTTCCTCGGCCATCACTGGGGGATGCTAGCAACACGGTCTCCCCGTACTCCCCACCCCTGGGCATGACATCATCTCTAGATCACATGTGTCTACATTTCAGACCCCAGGGCATCCCTGCCCTGCCAGCCCTATGTGCCAGCCCTTGGTCACACCTGTGGCTGAGCAGCGCAAGGTGGCCGTGTGTCCAGCCTCCACAGTCAGCTCAGCTTCTTCAGCTTGGACCTGAGGGGCCCCTGGGGCCATGGCGCCCGTGTCCACGATCACCTCCACCTGCTTCTGTGCTGTGCCTAGTGCATTCTGAGCAAGGCACACATAAGTGCCCGCATCTGATGGTTTAGCTGATGAAATCTGGGAGAAAGCAAGGAGGCTGGTTATGTGGGGACTCAGTGGGGACGCTGATGTCAGCCCCAGCTCTGGCTTGGTCTTCCCTATTTCCTCTACCCTGCCTTGGTATCTATTTATTTACTTATTTATATATTTATTTTTTGAGACAGGGTCTTACTCTGTCGCACAGGTTGGAGTGCAGTGGCACCATCTGGCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCTCGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTATGTGCCACCACACTCAGCTAATTTTGTTTGTTTGTTTGTTTTTTGAGGGTCTTGCTCTGTCACCCAGGCTGCAGTGCTGTGGCACGATCTCTGCTCACTGAAAGCTCTACCTCCCAGGTTCACATCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACCCGCCATCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTGTGAGCCACTGCACCCAGCCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCTTCCTGCCTCAGCCTCTCCAAGTGCTGGGATTACAGGCACGTGCCACCATGCCTGGCCCTTTCCTTGGTTTTTAGCTGTCCCATCTGGTTGCTTGAGGGCTCACCCTCATGACACCCCATTAGTCCATCCATCCACTTGGCCTTCGACCCACCCTCCCACTCATTCTTTCTTCCTTCTCCTACCTTCCTTCTCTCTTCCCTCTCATCTTCCAGTCTATTCGTCATCCACCCATCCCATCCCATTCCTCCCTTCCTCTCTCCATCCACTCATCACCACCTGCCCATCCACTACTATCTCCTCCAAGCACCCGCTCAAGGCTGGGCCATGGACTGGGCCTCAGACCCAGAGAGGCAGCCCCGGCTTCACCTGCAGCACCGCGTGGCTGTCCATGAGCCCATATGTCCGCTGCTCCAACTTGGCAGGGGTGCTGCTGATCCGGGTCCAACGAGCAGAGGAGCGGGGCTCCCCGGCACTGACACACTCCAGGGTGACAGCCTTTCCCACTTTCACCCACACGGGGCCCTCGGGGAGCACGGACACTGTAGGGGGCCCTGTGCAAAGGAATGACAACCACTGACACACAGGCAGGGCTCTGCTGCTCACCCACACTGCCATGGCCTCCAGCTTAGTAACTGCTGGGTGGGCACCTGTCTCCCCACTGCACTGAGGTGGAAACTGAGGCTCAGAGAGGGAGAATGCCCAAGACAGAGTCAATGGTGGAAGGAGGATTTAAACTTGGAGGCTCTGAGCTGAGAATCAGGGCTGGAAACAGGGCAGAGCCCCACAGGGTCAACGTCCCCTCACCGTGCACACTGAGGTTCACCACACTCTGGGCCACACCGTAGGCATTGGAGGCCACGCAGCGGTAGGTACCGTGGTTGCTGGGCCGGGTGCCCACGATGGTGATGATGGAGCCATTGGGACTGATGTGGACGTTGTCTGTGAGGTTGCATGGGGGAGGGTGAGAGAGGATTGACCTGGTCCTTCTCGTGTCTTGGTGCTGCCAGCCTGTGCCCCTGGGCCCACTTCCCCAATCCCTCCGGCCTGGGTGTGTCTAGCTCATGGAGTCGCAGATAGCAGAAAGTAACAAAGGCCTTGGAAACTCCTGGGTCCAGCGCTCTTGCCATACAGAGACGGGAAGGGCCTTACTCAGGGCCACACCATGAATGTGGGGCGTCCAGACTTCTGCCCCACCCTTGCACAGTGGGGATGACGGCACCCCCATGCCTGCCCCCAGCTTGCCCACCTGCCCACCAGCCTGGCTCACCCTCCAGCTCCTGGTTCCGGGTCTTCCACTCGAGGCTGATGGGGGCTGCCCCGTCATGGATGAGGCACTTGAAGCTGGCATCCTGGCCCTGCTGCACGGTGCTGCTGGGCGGGTCGATGGAGATGACCGGGCTCCTAAGGCCTGGGGCCAAAGGGGCAGAGGGCTGGGCTCAGCAGGGGTGGGCTTAGCTTCAGGGCCCTCCCTTCCCCCCTTGCCCATGGCATCTGCCATACTCACGGTAGGAAGACCCCTCACTGGGCGGGACGGTGACTGTGAAGGAGGCTTCTTGCTCAGGGCCTGGGCCGCTGGCTGCACGACACACATACTCGCCTGAGTCGGCAGGGGAGACGAGGTGGAGCCGCAGCTGGGAGCCATGGGTCTGTCAGAGCAGCGAGGGGACAGTTATCAGGGCAAAGTCCCCAGGACAAGGAATGTCCCCAAGCCCAACTGTGCCGGTACCCAAGAGTTCTCTCGGAAGCTCAGGGTCTCAGCTGGTAGGGCTGGTGGAAGCTTCATTCACAGAATCCTAGAGGTCCAACCCACTCACTTTACAGTGGAGGAAACTGAGGCCCAGGAAAGGATTCAGCTGCAGAGCCAAGAGAAAAACCCAGGTCTCCTGATTTGCAGGCTGGTGAACTCGTCCCGCAAACGTATTTTATCCCCTGGGGTCCCCAAGCAGGCTGGTGTTTGCATGAGGTTTGGGTACAGAAAGCAACTGCAGGTCTAACCTTGCCTGACCTGGAATCCTCCCCATCCTGGCCCCTGTACCTGGTGCCGGGCGGGGAGGCTGCCCCCGCGCTTGTACCACGTGACCTGGGCATGGGCCTGCCCGGGCACCACACAGTTCAGATCCAGAGTCTGCCCTTCAGTCACGTGTGAAGAGGAGGCCTCGATGTAGATGGGCTGGGCCAGTCCTGGAGCTGTGGGCACAGGGGGTGGGTGAGAGAGGCCAGGCTCCGGGGATCAAGGCAGGGGCTGAAGGTGGTGGCAGTGAAGACCAGCTCCAGTTGATCCTGGGGGCGCGGTGGCTTGAGAGTGGCTGATATAACCTAAGAAGGGTCTCCTTTCCCTGGGGACTCAAGGGTCCTCCTGAAACTCAGGGCTGGGGTCCCCCTGGTTGAGGGGACGGGACCATTGTCAGACTTGGGAACACCTGGGTTGGCTTGATCCTCCGTGGTAGGAAACCCCGCCTGCAGGCAACAATAAGTGCCCGGCTGGGAGAGAGGAGAGGAGCAGAGCTGGGAAGGAGCCCCGCGCCTGTGCTCTGGCATCGCCCACTGCTCCCTATCACTCACCAGGAATGGGTCCTGGGCTGGAGGGCTCAATTGTGACCAGGAC
|
benign
| 5,041 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 21842256, gene HSPG2 (heparan sulfate proteoglycan 2): what disease(s) if pathogenic?
|
pathogenic; ['HSPG2-related_disorder', 'Lethal_Kniest-like_syndrome', 'Schwartz-Jampel_syndrome_type_1']
|
GCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCTCGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTATGTGCCACCACACTCAGCTAATTTTGTTTGTTTGTTTGTTTTTTGAGGGTCTTGCTCTGTCACCCAGGCTGCAGTGCTGTGGCACGATCTCTGCTCACTGAAAGCTCTACCTCCCAGGTTCACATCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACCCGCCATCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTGTGAGCCACTGCACCCAGCCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCTTCCTGCCTCAGCCTCTCCAAGTGCTGGGATTACAGGCACGTGCCACCATGCCTGGCCCTTTCCTTGGTTTTTAGCTGTCCCATCTGGTTGCTTGAGGGCTCACCCTCATGACACCCCATTAGTCCATCCATCCACTTGGCCTTCGACCCACCCTCCCACTCATTCTTTCTTCCTTCTCCTACCTTCCTTCTCTCTTCCCTCTCATCTTCCAGTCTATTCGTCATCCACCCATCCCATCCCATTCCTCCCTTCCTCTCTCCATCCACTCATCACCACCTGCCCATCCACTACTATCTCCTCCAAGCACCCGCTCAAGGCTGGGCCATGGACTGGGCCTCAGACCCAGAGAGGCAGCCCCGGCTTCACCTGCAGCACCGCGTGGCTGTCCATGAGCCCATATGTCCGCTGCTCCAACTTGGCAGGGGTGCTGCTGATCCGGGTCCAACGAGCAGAGGAGCGGGGCTCCCCGGCACTGACACACTCCAGGGTGACAGCCTTTCCCACTTTCACCCACACGGGGCCCTCGGGGAGCACGGACACTGTAGGGGGCCCTGTGCGGAGGAATGACAACCACTGACACACAGGCAGGGCTCTGCTGCTCACCCACACTGCCATGGCCTCCAGCTTAGTAACTGCTGGGTGGGCACCTGTCTCCCCACTGCACTGAGGTGGAAACTGAGGCTCAGAGAGGGAGAATGCCCAAGACAGAGTCAATGGTGGAAGGAGGATTTAAACTTGGAGGCTCTGAGCTGAGAATCAGGGCTGGAAACAGGGCAGAGCCCCACAGGGTCAACGTCCCCTCACCGTGCACACTGAGGTTCACCACACTCTGGGCCACACCGTAGGCATTGGAGGCCACGCAGCGGTAGGTACCGTGGTTGCTGGGCCGGGTGCCCACGATGGTGATGATGGAGCCATTGGGACTGATGTGGACGTTGTCTGTGAGGTTGCATGGGGGAGGGTGAGAGAGGATTGACCTGGTCCTTCTCGTGTCTTGGTGCTGCCAGCCTGTGCCCCTGGGCCCACTTCCCCAATCCCTCCGGCCTGGGTGTGTCTAGCTCATGGAGTCGCAGATAGCAGAAAGTAACAAAGGCCTTGGAAACTCCTGGGTCCAGCGCTCTTGCCATACAGAGACGGGAAGGGCCTTACTCAGGGCCACACCATGAATGTGGGGCGTCCAGACTTCTGCCCCACCCTTGCACAGTGGGGATGACGGCACCCCCATGCCTGCCCCCAGCTTGCCCACCTGCCCACCAGCCTGGCTCACCCTCCAGCTCCTGGTTCCGGGTCTTCCACTCGAGGCTGATGGGGGCTGCCCCGTCATGGATGAGGCACTTGAAGCTGGCATCCTGGCCCTGCTGCACGGTGCTGCTGGGCGGGTCGATGGAGATGACCGGGCTCCTAAGGCCTGGGGCCAAAGGGGCAGAGGGCTGGGCTCAGCAGGGGTGGGCTTAGCTTCAGGGCCCTCCCTTCCCCCCTTGCCCATGGCATCTGCCATACTCACGGTAGGAAGACCCCTCACTGGGCGGGACGGTGACTGTGAAGGAGGCTTCTTGCTCAGGGCCTGGGCCGCTGGCTGCACGACACACATACTCGCCTGAGTCGGCAGGGGAGACGAGGTGGAGCCGCAGCTGGGAGCCATGGGTCTGTCAGAGCAGCGAGGGGACAGTTATCAGGGCAAAGTCCCCAGGACAAGGAATGTCCCCAAGCCCAACTGTGCCGGTACCCAAGAGTTCTCTCGGAAGCTCAGGGTCTCAGCTGGTAGGGCTGGTGGAAGCTTCATTCACAGAATCCTAGAGGTCCAACCCACTCACTTTACAGTGGAGGAAACTGAGGCCCAGGAAAGGATTCAGCTGCAGAGCCAAGAGAAAAACCCAGGTCTCCTGATTTGCAGGCTGGTGAACTCGTCCCGCAAACGTATTTTATCCCCTGGGGTCCCCAAGCAGGCTGGTGTTTGCATGAGGTTTGGGTACAGAAAGCAACTGCAGGTCTAACCTTGCCTGACCTGGAATCCTCCCCATCCTGGCCCCTGTACCTGGTGCCGGGCGGGGAGGCTGCCCCCGCGCTTGTACCACGTGACCTGGGCATGGGCCTGCCCGGGCACCACACAGTTCAGATCCAGAGTCTGCCCTTCAGTCACGTGTGAAGAGGAGGCCTCGATGTAGATGGGCTGGGCCAGTCCTGGAGCTGTGGGCACAGGGGGTGGGTGAGAGAGGCCAGGCTCCGGGGATCAAGGCAGGGGCTGAAGGTGGTGGCAGTGAAGACCAGCTCCAGTTGATCCTGGGGGCGCGGTGGCTTGAGAGTGGCTGATATAACCTAAGAAGGGTCTCCTTTCCCTGGGGACTCAAGGGTCCTCCTGAAACTCAGGGCTGGGGTCCCCCTGGTTGAGGGGACGGGACCATTGTCAGACTTGGGAACACCTGGGTTGGCTTGATCCTCCGTGGTAGGAAACCCCGCCTGCAGGCAACAATAAGTGCCCGGCTGGGAGAGAGGAGAGGAGCAGAGCTGGGAAGGAGCCCCGCGCCTGTGCTCTGGCATCGCCCACTGCTCCCTATCACTCACCAGGAATGGGTCCTGGGCTGGAGGGCTCAATTGTGACCAGGACAGATGCCTCCAGGGTGCCTGAGCTTCCGGTCACTTGGCACGAGTACTCGCCAGAGTCAGCCGGGGACACCTGGTTCAGCCTCAGCAGTGGGCCGTGGACCTGGCCAAGGTGGGGTGAGAGCGGGGAGGGTGAGCTGGGAGCCTTCAGATGCCCAGGCCTCTGGTACCCACACCCTGGGACTGCCATGCACAGATATGTAGGCGCATCCTGTTGGAGGCGACCCCTTTGACAGTCCGCATTGTGGAGGGCATGTTTATTATGATGGTTTCTCCGGCAGGAGGAAGTCAAGAGCCTTGAGTAACAGGTGTCCTTTTCTTTTTTTTTTGAGACAGTGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCTGCCACCATGCCTGGCCAATTTTTGTGTTTTTCGTTTCGCCATGTTGGCCGGGCTGGCTTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGACATGAGCCACTGCGCCCAGCCAGAGATGTCCTTTTCTATTTTGCACCAAGGTGCTGTGGGGCTGGTGGTGGCCCTGCTGTGCCCAGCCCGCTCTCAACTTCCTGATTCCATTGACCTCCTGCTGCCATTTCCCACAAGCCCCAGTTGCTGAGGCCACTTTCCCTTCAACGCTGGATTCAGGCAGGACCACTGCAGGTGTGGAGGATGCATGCATCCTTCTCCAGCTCCTTTACCTGGTGCCGGGCAGGGAGGTTTCCTCCACGCTTGTGCCACGTGACCTGGGCGTGGGCCTGCCCGGGCACCACGCACTTCAGATCCAGGGTCTGCCCTTCTGCCACTCGGGAGGAGGAGGGCTCGATGCGGATGGGTGGGGCTCCACCTGGGGCTGG
|
GCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCTCGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTATGTGCCACCACACTCAGCTAATTTTGTTTGTTTGTTTGTTTTTTGAGGGTCTTGCTCTGTCACCCAGGCTGCAGTGCTGTGGCACGATCTCTGCTCACTGAAAGCTCTACCTCCCAGGTTCACATCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACCCGCCATCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAATTGCTAGGATTACAGGTGTGAGCCACTGCACCCAGCCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCTTCCTGCCTCAGCCTCTCCAAGTGCTGGGATTACAGGCACGTGCCACCATGCCTGGCCCTTTCCTTGGTTTTTAGCTGTCCCATCTGGTTGCTTGAGGGCTCACCCTCATGACACCCCATTAGTCCATCCATCCACTTGGCCTTCGACCCACCCTCCCACTCATTCTTTCTTCCTTCTCCTACCTTCCTTCTCTCTTCCCTCTCATCTTCCAGTCTATTCGTCATCCACCCATCCCATCCCATTCCTCCCTTCCTCTCTCCATCCACTCATCACCACCTGCCCATCCACTACTATCTCCTCCAAGCACCCGCTCAAGGCTGGGCCATGGACTGGGCCTCAGACCCAGAGAGGCAGCCCCGGCTTCACCTGCAGCACCGCGTGGCTGTCCATGAGCCCATATGTCCGCTGCTCCAACTTGGCAGGGGTGCTGCTGATCCGGGTCCAACGAGCAGAGGAGCGGGGCTCCCCGGCACTGACACACTCCAGGGTGACAGCCTTTCCCACTTTCACCCACACGGGGCCCTCGGGGAGCACGGACACTGTAGGGGGCCCTGTGCGGAGGAATGACAACCACTGACACACAGGCAGGGCTCTGCTGCTCACCCACACTGCCATGGCCTCCAGCTTAGTAACTGCTGGGTGGGCACCTGTCTCCCCACTGCACTGAGGTGGAAACTGAGGCTCAGAGAGGGAGAATGCCCAAGACAGAGTCAATGGTGGAAGGAGGATTTAAACTTGGAGGCTCTGAGCTGAGAATCAGGGCTGGAAACAGGGCAGAGCCCCACAGGGTCAACGTCCCCTCACCGTGCACACTGAGGTTCACCACACTCTGGGCCACACCGTAGGCATTGGAGGCCACGCAGCGGTAGGTACCGTGGTTGCTGGGCCGGGTGCCCACGATGGTGATGATGGAGCCATTGGGACTGATGTGGACGTTGTCTGTGAGGTTGCATGGGGGAGGGTGAGAGAGGATTGACCTGGTCCTTCTCGTGTCTTGGTGCTGCCAGCCTGTGCCCCTGGGCCCACTTCCCCAATCCCTCCGGCCTGGGTGTGTCTAGCTCATGGAGTCGCAGATAGCAGAAAGTAACAAAGGCCTTGGAAACTCCTGGGTCCAGCGCTCTTGCCATACAGAGACGGGAAGGGCCTTACTCAGGGCCACACCATGAATGTGGGGCGTCCAGACTTCTGCCCCACCCTTGCACAGTGGGGATGACGGCACCCCCATGCCTGCCCCCAGCTTGCCCACCTGCCCACCAGCCTGGCTCACCCTCCAGCTCCTGGTTCCGGGTCTTCCACTCGAGGCTGATGGGGGCTGCCCCGTCATGGATGAGGCACTTGAAGCTGGCATCCTGGCCCTGCTGCACGGTGCTGCTGGGCGGGTCGATGGAGATGACCGGGCTCCTAAGGCCTGGGGCCAAAGGGGCAGAGGGCTGGGCTCAGCAGGGGTGGGCTTAGCTTCAGGGCCCTCCCTTCCCCCCTTGCCCATGGCATCTGCCATACTCACGGTAGGAAGACCCCTCACGGCGGGACGGTGACTGTGAAGGAGGCTTCTTGCTCAGGGCCTGGGCCGCTGGCTGCACGACACACATACTCGCCTGAGTCGGCAGGGGAGACGAGGTGGAGCCGCAGCTGGGAGCCATGGGTCTGTCAGAGCAGCGAGGGGACAGTTATCAGGGCAAAGTCCCCAGGACAAGGAATGTCCCCAAGCCCAACTGTGCCGGTACCCAAGAGTTCTCTCGGAAGCTCAGGGTCTCAGCTGGTAGGGCTGGTGGAAGCTTCATTCACAGAATCCTAGAGGTCCAACCCACTCACTTTACAGTGGAGGAAACTGAGGCCCAGGAAAGGATTCAGCTGCAGAGCCAAGAGAAAAACCCAGGTCTCCTGATTTGCAGGCTGGTGAACTCGTCCCGCAAACGTATTTTATCCCCTGGGGTCCCCAAGCAGGCTGGTGTTTGCATGAGGTTTGGGTACAGAAAGCAACTGCAGGTCTAACCTTGCCTGACCTGGAATCCTCCCCATCCTGGCCCCTGTACCTGGTGCCGGGCGGGGAGGCTGCCCCCGCGCTTGTACCACGTGACCTGGGCATGGGCCTGCCCGGGCACCACACAGTTCAGATCCAGAGTCTGCCCTTCAGTCACGTGTGAAGAGGAGGCCTCGATGTAGATGGGCTGGGCCAGTCCTGGAGCTGTGGGCACAGGGGGTGGGTGAGAGAGGCCAGGCTCCGGGGATCAAGGCAGGGGCTGAAGGTGGTGGCAGTGAAGACCAGCTCCAGTTGATCCTGGGGGCGCGGTGGCTTGAGAGTGGCTGATATAACCTAAGAAGGGTCTCCTTTCCCTGGGGACTCAAGGGTCCTCCTGAAACTCAGGGCTGGGGTCCCCCTGGTTGAGGGGACGGGACCATTGTCAGACTTGGGAACACCTGGGTTGGCTTGATCCTCCGTGGTAGGAAACCCCGCCTGCAGGCAACAATAAGTGCCCGGCTGGGAGAGAGGAGAGGAGCAGAGCTGGGAAGGAGCCCCGCGCCTGTGCTCTGGCATCGCCCACTGCTCCCTATCACTCACCAGGAATGGGTCCTGGGCTGGAGGGCTCAATTGTGACCAGGACAGATGCCTCCAGGGTGCCTGAGCTTCCGGTCACTTGGCACGAGTACTCGCCAGAGTCAGCCGGGGACACCTGGTTCAGCCTCAGCAGTGGGCCGTGGACCTGGCCAAGGTGGGGTGAGAGCGGGGAGGGTGAGCTGGGAGCCTTCAGATGCCCAGGCCTCTGGTACCCACACCCTGGGACTGCCATGCACAGATATGTAGGCGCATCCTGTTGGAGGCGACCCCTTTGACAGTCCGCATTGTGGAGGGCATGTTTATTATGATGGTTTCTCCGGCAGGAGGAAGTCAAGAGCCTTGAGTAACAGGTGTCCTTTTCTTTTTTTTTTGAGACAGTGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCTGCCACCATGCCTGGCCAATTTTTGTGTTTTTCGTTTCGCCATGTTGGCCGGGCTGGCTTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGACATGAGCCACTGCGCCCAGCCAGAGATGTCCTTTTCTATTTTGCACCAAGGTGCTGTGGGGCTGGTGGTGGCCCTGCTGTGCCCAGCCCGCTCTCAACTTCCTGATTCCATTGACCTCCTGCTGCCATTTCCCACAAGCCCCAGTTGCTGAGGCCACTTTCCCTTCAACGCTGGATTCAGGCAGGACCACTGCAGGTGTGGAGGATGCATGCATCCTTCTCCAGCTCCTTTACCTGGTGCCGGGCAGGGAGGTTTCCTCCACGCTTGTGCCACGTGACCTGGGCGTGGGCCTGCCCGGGCACCACGCACTTCAGATCCAGGGTCTGCCCTTCTGCCACTCGGGAGGAGGAGGGCTCGATGCGGATGGGTGGGGCTCCACCTGGGGCTGGNN
|
pathogenic
| 5,050 |
Regarding the variant at chromosome 1 and position 21855290, affecting gene HSPG2 (heparan sulfate proteoglycan 2): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
TTCCCTCCCCAGCCTCTAACCACAAGCTGGAGGCCCATTGACCCACCCATGACTTCTTGATGATGAGCTCCTCTGGCCCATAGGGAACCAGCAAGCTTTACTACCCAGGCTGCGCCCAAGGATGCGGATGACAGTGAGACACCTCCCTTCTACAGGACGTCTTCCGTGTGCTCACAAGTACTTTCCATAGACACTGTCTCATTTAAACCACACCATGACTGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGACGGTCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGTGTGCCTGTAGTCCTAGCTACTCAGAAGGCTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTCTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAAAAACCACACCATGACCAAGCAGGTGGGCAGTACTGCTCCATTTCATAGATGAATCTGAGGCCCCAAAAGTTAAAAGCTAGTTCAAGGTTGCTAAGGGGCAGATCTGGGATTTGAACCAGGTCAGCCGACTCCCAGCTTAGTATTCAACCTGGACATTCTGCTGCTTCCTGACAAATTCTGAAACAGTCACTCATAGGGAGCCCAGGTAAGCTGGACCAGCCTTAACCTCCCTCCCGTCCACTCAACCTCCTTCTCTCTCTGAGCAGGCGCTGAAGGGTCAAAGCCTGCCTGGAATGCCCCCCTGTCCTGGTCCCACTGAAGAAGCCACAGGCATCTTCCTTGGGAGCTCCTAGGGCTCAGCCCCGGCCCAGCCACACCTGGCTCCTCACCTGGGGTGTAGCTGGGGCCAGAATGGGTGCCGTGGAGCACAGACACAGTAATGGAGGCCTCCTTGGGGCCCGATCCATTCTCCACACGGCACACATATTCTCCAGAATCAGCTGGTGAGACCTGGGGGAGCCGCAGACGGGAGCCGTGCACCTGGGCCAGGAGGAGCCAGAGGTACGTGAGGACAGGGACGGGGGCTATTGTCACCACTCCCTCAGCCTCAGTGATTCATTCAAACTCTCACTGGCTCTGCTCCGAGCCATCCCATGCTAGAAACTGGGAGGGAGGGAGATGAGGCCTGGCTTCTGCTGGTGGAACGTGTGGGGCAGTGTGCCGCCTCCCCCGCCCAGCGTACAGGCCCCGCCTCCGCCACAGCCCCTGCACCCTGGGTCCCCTGCCATAGGCTCAGGGCCCACATACCTGGGTGTGGGGAGGCAGGCTACCCCCTCGCCTGTACCAGGTGACCTGGGCATGGGCTGACCCTGCCACCACACAGTTGAGGTCGAGTGTTTGCCCTTCTGTCACAGAAGGCGATGAGGACTCAATCTTGACCGGCGGTGGGCTGGCATCTGAGGCTGGGGCCAGAGTAGGGGTCAGCAGGCCCCAGGGGAGCCCTGGCTTGCCCTCCCCACCCCTCCATTCCCAGAGAGTCCGTACCTGAAAGGACAACCACTTGGATCCGGGCCTGGGCAGTGCCTGCAGGGCTGGTGGCCACGCAGAGGTAGAAGCCGGCGTCAGCAGTCGTGATGGCTGGGATGAGCAGTGTCGCGATGTCTGTGCGCTCTGACCGGGCCTGCCGTGGGTGAGATGGGTCAGCTGCCCCAGAGGCAGCTGGACAACGGCTGGCCAGGGGGACAGATAGGGCATAAAAGGGAGAGGCAGGTGCAGGGCCAATATTAGGGCCCAGTGGGGCATGAAGGAGGACAAACGCCAGGCAGCCAAGAGGACGGCAGGGGCTCCCTGCTGGGATGCAGGGGCAGGAGACCACCATCTTGGAGGTGAAGGGAGCCACAGAGGAGGAGGTGGGGTGGGGCGTGAAGGGGGAGGGAAGGTGGCTGGGACTCTCTGCAGAGCCTGTGGGCCTCCTCCTCCTGGGTGGGCCCATCTCCTCACCTGTGGTGGGAGGCTGCCCCCTTCCTTCCTCCAGGTGATGGTGGCGCTAGGCACGCCTGCAGCCCTGCAGTACAGCCTGACGGTGCGGCCTGCGTGGACCTGGGTCCTCTCTGGGCTCACTTGGACTCTGGGCCCACCGCCCCCTGCAGACAGAGTCCTGTGAGAACACGCCCTGGGCTGAGCACACTCCCGGCCCCCACCCTGAGCCCGGCCTCTCACCATGCACGTGGAGCACAGCCCTGGCCACCTGCTGCCCAGCGCTGCTGTGGGCTCGGCACAAGTACTGGGCCTGATCCGTGGGCTCGACAGCTGGCAGGCGCAGGATGCCGCCGTGGATTTGTGCCTTCGCAGGGAGCTGGCCGCCGGGGCCCCCTGACGAGTAGACGTGGGGTCAGCACCCACCAAGCCTGCTCAGAGTCCTGCCCCTCCCCTCCCACACCCAGGAGAGTCAGGCCTTGAATGTCATTCCCATCACGGCCTCACCTGTCCACTCGAGGGTGGGCGTGGGGCTCCCTGTGGCGCTGCAGCGGAACTCCGCCAGTTGCCCGGGCTGCACTGTGAGCTGTGGCGGATGGATGGAGACCACGGGGGCGGACAAGGTGCCCGAGGCTGACAAGGGAGGAAAAGGAACATGCACTCAGGGTGGGGAGTGTCGTCTGACTCACACAACAGTCCTGCTGCCTACTTTCTCTGCTTCCAGGCTAGCCCTCCACGGCCATCTGTGCACACAGGAGCCAGAGGGAGCTTGGGAAATGTCAACAGGACCTTGTGACCTCCCACCTTGAGACCTGTCCATGACTCCCTGTTGCTTTTAGAATAAAATCCAAAATTCCTACCCTGATCCACCACATACTCCATGCTCTCCCGTCTGCCCACACCCGTCCTCCCTCCCACAGCCCCAGCCACGTGGTCTCTGCTGTTCCTCAAACATAGCAACGTGCTCCTGCCTCAGGGCCTTGCCATGTGCTGCTCCCTCTGCCAAGAACACTCTGCCAACTCTCTAACTTGCTCAATGCCTACCTTTCCTTCAGGTCTCAGCTTAGGTGTCACCTCCTCAGAGAGGCCCTCCCTGACTGCCCTATCTAGAGTAGCCCTTGCCTCTCCCACCTTGTTTTATTTTATTTATTTTTCTGAGATGGATTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTAAGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCTGCCACCACACCCAGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCTGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGTGTGAGCCACCGCTCCTGGCCTTCTCCCACCTTGTTTCTTGCTTTCTCATCATTCCTAGCCTGGCACTCATCGCCATGTGTAGTTATCTTGCTTGTTCATTTATTCCCATGCTTATGGTCTCCCTGCCTAGGACGTGTACTTCAGGAGGACCGAGATACTGTACATGCTTCTCTCCCCTGCTTCTGCAGAGCCTAGACCAGGACCAGGCATGCAGCAGGTGCTCAGAAATGATCAGCAGAATGAAGAAATGCTGTGCTAATTCTGGTGGGAATGGGGGAGAGACAGGAGGGGAGAATCAGGTATAGATGGGAGGTGTACCCTGCACATGTAGAGTGGCTGTGCCCTGGTCCATGGCAAACATGTTGGAGCCGGTGCACACGTAGGTGCCTGCATCACTCAGCTGGACGTTGCGAATGGTCAGGATGCCATTGAAATCCATGGCTCGGGTGGGCAGTTTCCCGTTGTGCAGGCGGGTCCACACCAGGGTATAGGCTGGGGACTGCAGGGCAAGGCGAAAGGGGGTCATGGGTGGGGCTCAGAGACCCCAGAAGACAGACTTCCTCCATCCCCACTCCCTGACCTGCACACCTTGCTTTTGGCTGTGCAGATGAAGGTGACGTCAGCTCCGGGGCGCACGCTCT
|
TTCCCTCCCCAGCCTCTAACCACAAGCTGGAGGCCCATTGACCCACCCATGACTTCTTGATGATGAGCTCCTCTGGCCCATAGGGAACCAGCAAGCTTTACTACCCAGGCTGCGCCCAAGGATGCGGATGACAGTGAGACACCTCCCTTCTACAGGACGTCTTCCGTGTGCTCACAAGTACTTTCCATAGACACTGTCTCATTTAAACCACACCATGACTGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGACGGTCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGTGTGCCTGTAGTCCTAGCTACTCAGAAGGCTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTCTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAAAAACCACACCATGACCAAGCAGGTGGGCAGTACTGCTCCATTTCATAGATGAATCTGAGGCCCCAAAAGTTAAAAGCTAGTTCAAGGTTGCTAAGGGGCAGATCTGGGATTTGAACCAGGTCAGCCGACTCCCAGCTTAGTATTCAACCTGGACATTCTGCTGCTTCCTGACAAATTCTGAAACAGTCACTCATAGGGAGCCCAGGTAAGCTGGACCAGCCTTAACCTCCCTCCCGTCCACTCAACCTCCTTCTCTCTCTGAGCAGGCGCTGAAGGGTCAAAGCCTGCCTGGAATGCCCCCCTGTCCTGGTCCCACTGAAGAAGCCACAGGCATCTTCCTTGGGAGCTCCTAGGGCTCAGCCCCGGCCCAGCCACACCTGGCTCCTCACCTGGGGTGTAGCTGGGGCCAGAATGGGTGCCGTGGAGCACAGACACAGTAATGGAGGCCTCCTTGGGGCCCGATCCATTCTCCACACGGCACACATATTCTCCAGAATCAGCTGGTGAGACCTGGGGGAGCCGCAGACGGGAGCCGTGCACCTGGGCCAGGAGGAGCCAGAGGTACGTGAGGACAGGGACGGGGGCTATTGTCACCACTCCCTCAGCCTCAGTGATTCATTCAAACTCTCACTGGCTCTGCTCCGAGCCATCCCATGCTAGAAACTGGGAGGGAGGGAGATGAGGCCTGGCTTCTGCTGGTGGAACGTGTGGGGCAGTGTGCCGCCTCCCCCGCCCAGCGTACAGGCCCCGCCTCCGCCACAGCCCCTGCACCCTGGGTCCCCTGCCATAGGCTCAGGGCCCACATACCTGGGTGTGGGGAGGCAGGCTACCCCCTCGCCTGTACCAGGTGACCTGGGCATGGGCTGACCCTGCCACCACACAGTTGAGGTCGAGTGTTTGCCCTTCTGTCACAGAAGGCGATGAGGACTCAATCTTGACCGGCGGTGGGCTGGCATCTGAGGCTGGGGCCAGAGTAGGGGTCAGCAGGCCCCAGGGGAGCCCTGGCTTGCCCTCCCCACCCCTCCATTCCCAGAGAGTCCGTACCTGAAAGGACAACCACTTGGATCCGGGCCTGGGCAGTGCCTGCAGGGCTGGTGGCCACGCAGAGGTAGAAGCCGGCGTCAGCAGTCGTGATGGCTGGGATGAGCAGTGTCGCGATGTCTGTGCGCTCTGACCGGGCCTGCCGTGGGTGAGATGGGTCAGCTGCCCCAGAGGCAGCTGGACAACGGCTGGCCAGGGGGACAGATAGGGCATAAAAGGGAGAGGCAGGTGCAGGGCCAATATTAGGGCCCAGTGGGGCATGAAGGAGGACAAACGCCAGGCAGCCAAGAGGACGGCAGGGGCTCCCTGCTGGGATGCAGGGGCAGGAGACCACCATCTTGGAGGTGAAGGGAGCCACAGAGGAGGAGGTGGGGTGGGGCGTGAAGGGGGAGGGAAGGTGGCTGGGACTCTCTGCAGAGCCTGTGGGCCTCCTCCTCCTGGGTGGGCCATCTCCTCACCTGTGGTGGGAGGCTGCCCCCTTCCTTCCTCCAGGTGATGGTGGCGCTAGGCACGCCTGCAGCCCTGCAGTACAGCCTGACGGTGCGGCCTGCGTGGACCTGGGTCCTCTCTGGGCTCACTTGGACTCTGGGCCCACCGCCCCCTGCAGACAGAGTCCTGTGAGAACACGCCCTGGGCTGAGCACACTCCCGGCCCCCACCCTGAGCCCGGCCTCTCACCATGCACGTGGAGCACAGCCCTGGCCACCTGCTGCCCAGCGCTGCTGTGGGCTCGGCACAAGTACTGGGCCTGATCCGTGGGCTCGACAGCTGGCAGGCGCAGGATGCCGCCGTGGATTTGTGCCTTCGCAGGGAGCTGGCCGCCGGGGCCCCCTGACGAGTAGACGTGGGGTCAGCACCCACCAAGCCTGCTCAGAGTCCTGCCCCTCCCCTCCCACACCCAGGAGAGTCAGGCCTTGAATGTCATTCCCATCACGGCCTCACCTGTCCACTCGAGGGTGGGCGTGGGGCTCCCTGTGGCGCTGCAGCGGAACTCCGCCAGTTGCCCGGGCTGCACTGTGAGCTGTGGCGGATGGATGGAGACCACGGGGGCGGACAAGGTGCCCGAGGCTGACAAGGGAGGAAAAGGAACATGCACTCAGGGTGGGGAGTGTCGTCTGACTCACACAACAGTCCTGCTGCCTACTTTCTCTGCTTCCAGGCTAGCCCTCCACGGCCATCTGTGCACACAGGAGCCAGAGGGAGCTTGGGAAATGTCAACAGGACCTTGTGACCTCCCACCTTGAGACCTGTCCATGACTCCCTGTTGCTTTTAGAATAAAATCCAAAATTCCTACCCTGATCCACCACATACTCCATGCTCTCCCGTCTGCCCACACCCGTCCTCCCTCCCACAGCCCCAGCCACGTGGTCTCTGCTGTTCCTCAAACATAGCAACGTGCTCCTGCCTCAGGGCCTTGCCATGTGCTGCTCCCTCTGCCAAGAACACTCTGCCAACTCTCTAACTTGCTCAATGCCTACCTTTCCTTCAGGTCTCAGCTTAGGTGTCACCTCCTCAGAGAGGCCCTCCCTGACTGCCCTATCTAGAGTAGCCCTTGCCTCTCCCACCTTGTTTTATTTTATTTATTTTTCTGAGATGGATTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTAAGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCTGCCACCACACCCAGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCTGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGTGTGAGCCACCGCTCCTGGCCTTCTCCCACCTTGTTTCTTGCTTTCTCATCATTCCTAGCCTGGCACTCATCGCCATGTGTAGTTATCTTGCTTGTTCATTTATTCCCATGCTTATGGTCTCCCTGCCTAGGACGTGTACTTCAGGAGGACCGAGATACTGTACATGCTTCTCTCCCCTGCTTCTGCAGAGCCTAGACCAGGACCAGGCATGCAGCAGGTGCTCAGAAATGATCAGCAGAATGAAGAAATGCTGTGCTAATTCTGGTGGGAATGGGGGAGAGACAGGAGGGGAGAATCAGGTATAGATGGGAGGTGTACCCTGCACATGTAGAGTGGCTGTGCCCTGGTCCATGGCAAACATGTTGGAGCCGGTGCACACGTAGGTGCCTGCATCACTCAGCTGGACGTTGCGAATGGTCAGGATGCCATTGAAATCCATGGCTCGGGTGGGCAGTTTCCCGTTGTGCAGGCGGGTCCACACCAGGGTATAGGCTGGGGACTGCAGGGCAAGGCGAAAGGGGGTCATGGGTGGGGCTCAGAGACCCCAGAAGACAGACTTCCTCCATCCCCACTCCCTGACCTGCACACCTTGCTTTTGGCTGTGCAGATGAAGGTGACGTCAGCTCCGGGGCGCACGCTCTN
|
benign
| 5,137 |
Is the genetic variant on chromosome 1, position 21875925, gene HSPG2 (heparan sulfate proteoglycan 2), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic
|
GGACACCCCCTGTGCGCATCCCCCCACCCTCTCCACCCCCTGCCTCACCTCTCACAGTGACGCCCACTGTGGCCTGGGGAGCACGCATCACAGGTGGGGTGGCCGTCTGTGTCCAGAAAACAAGTGTGGGCAGCCCTGAGTGTGGGGGCAGATTTCTAGTCAGGAACGCAGTGGCTCCTTCCTCTCCCCCGATCCTCCTTCAGGACCAGGGGAGAGGGGAGGGGAAGAACAGGCATGTGAACTCATGTGTCCTCAGTGCCACTGCATGCCTGGCACTGTGCTAAGAGTTCCACATGCATAGCCTCATTCAACTCTCACACAAGGGGCTGAGGAGGGTGGACTACCCCATTTCACAGATGAGGCAGCTGAGGCCCTGAAAGTGAAGTGTATCTCACACCAAGTGACACTGAGCAGGCAGTAAGGCCAGGATTTAACCACTGCCTCTCAGAAGGGCCCTGGATGAAGCGGGTGTGGGAGCGGGTGGTAGACATTTCAGGGAAGGGCAGGTGCAGGCAGGGACTGGACGCACTGGCCGGCAGCAGGGTCTCCGTAGCAGGGGCACAGCTGGCAGTCCTGTGGTGTCCCCCGCTGGGCGTCCCCGTAGTATCCTGGCTGGCACTGCTCACACCGAGGGCCCTCCGTGTGATGCTGGCAGCCCTGGAGGAGCAGGATGTGAGTTGAGGCTGGGCCTCCAGAGGCCACAGATTGCTGGGGTGGGCGGAAGGAGGGCGGGACTTACCTGGCAGGCACCTGTTTCTGGCTCGCAGGCCTCTGAGTGGCCATGGCAGCTGCAGCGTTCACAGGTACCCAGGTAGAGGCCACTGGGCGTGCGTGTGTAGCCTGTGTCACAGTCCTGGGGGCAGAAAGATGGCAGTGGGAGGGACTTCCGAACACGGCCCATTCAGGTAGGGGCACTGGATGGCCAGGGCTGGGGAGGTGTGGAGGGCTCATGGAGAAGGAGCGGGAAGCACCATGGAGGGGGCTGGCTGGGCTGGCGTGGGGCCCAGGACTCACCTGGCAGGACGGCCCACGGTACCCGGGTGGGCAGGAGCACTGTTCCACTTCCAGCGCGGGGTCCTGGCCGGTTTCCTCGGGCACAGCCACGTCCATGCTGATGCCAGAGACCCTGGGCGTGACAAGACCCAGCGTGAATAGGAGTGCTGGCTCTGTGCCAGGCACGCCTGGAGTCCTCCACTGGCAGGGTCTTATTAGTCCTCCCGACAGCCCTGTCACAGTGCTGCTGGGGCCCTGTCCAGATCTCCAGAGGCTGCGAGGACCGTGGCAAACAGCTGTTACCTGCAACTTACTCCAAACCATCACCCTTCCTCACCTGGAGAGGTTATACCACCTCGTTCCCCTGGGGTCCCCAATGACAGGCTGATACAGGCTACAAGAGCCCACGGGCCTGAAAGAACGATCACTCTCCGGCGAATGACTCTCCAGAGCTCCCTGTGGGCTGAGGCTGGGGCTAGACTTGACCTGAAACCATATCCCTGCATGGCCCCTCCCCCCTCCTGCGTCCCTCTCCTTGTGAATCACATGCACCCCAATCCCCGTCTCAGGCTTCTTTCTAGGGAGCCTGGCCCCAGACCAGCCTGTATGGGAGACATTGTTAAGACTCTCCGTTTTACAGACAGGGAAAGTGAGGCACAAAAGGGTCACACAGTCTGTAAGTGGCTGTGCTGTACTGCACCGCTTAGATGGAGCCCCTCCCCAAGCCCATGCTGGTCCTCCTGCCCCGGCTCCAGACACCTGCTCTCAGCGGGCTGCTGGGCGTAGGATGCTCGGATCAGGAGGGTGTCGATGCCTGCCAGTGCCATCAGCAGGTGCTCCCGTGTGGCTGGCTGCCCATCGGGCCGCTGCCATGCTTGCTGCCAAGGAGAGGACACATGTGCTCAGCCCCTGACGTCCTGGAGTATTGAATGCCGGAGAGGCAGGAGCAAGGGCCTGCCCGCACCCCTACCCCCAGGGGACAGTATTGCTCACCTCCCGGAAAGGCACAATGAAGGTGCTGGGCTGGCCGGGGCTGGGCTCCTGGGCCACATGGTGCTCTAGGATGATGTTGTTACCTTGCAGCACCACCAACGGCTGCCCGTGCAGGGGTGTGGAGCCCGGCTGGGACCTCTGGGTCACTGTGAAGCGCAGCTCTCCTCCATAGGAGGTCACCTGGGACCAGGGTTAGACAGGAGCTTGCGGAGGCCTGAATTCGGGCCCTGTCACTGCTCCAGCCACCTTTTCCATGCAGTGTATCTCACTATTCTCCCAAGGCACCACGACCCTCCCGCCTCCAAGCCTTTGCCTGCGCTGTTCCTGCTGCCTGGAGTTTCCTTTGCCTTTCCACCCACTACCCACCTTGTCCCCCAGGAAGCGTGAAGGGAGGCTCCAGAAGTAGGGTCCAGATAAGAGTCTGTGGAAGGAGGAGAATCCCAGTTCCCCGGGCGTGGGGGAGAAGATGCCCTCGTTGGTGGTGTGGGTGCTTGCGGCGTTGGTCAGGCTGAAGTGACCAGGCTCCTCAGAGGCCCCATGCAACTGGGAGGAGGAGAAAGGGCTGGGATGGGGGCCGTGGCCTGGGACTGGCGCTTGGTCCATCCGGCCCAGGGCTTGGCGGTCCTGCCCGCCCACCTTGCAGAGGTACCTGGGCACGGCTCCATGAAGAGCTGGTGCAGTGGCGACTGACACCCATGCAGAAGCACTTGAGGCAGCCATCGGGGTTTCGGGTACTCAGGTGGAAAGAGCCGTCAGCACATTCATTGCACAAGCGCCCCACCACATTGTTCTGCAGGCACAGAGTTGGAGCTGAAGGACAGCCCATGGGAGAGGCTGCCTGGAGCTCTGGCCGAATCCACCCTCAGTCCAGATAAGAACCCAAGACCCAGGGGAGCCACTGAAAGAGCACATGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACAGCTGTAATCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATTGTTTGAAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCAGCCTACGCGATGGGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAGAGCACATGTATGAGGCGTCATTGCCATCTGAATAGTAATTCCCACTTAACAAGCACTTAGGCAAGCATTTTTCCCTTTTCTCTTTGGCTGCCAGGGGGTTCACCAATAAATTTAGACTTGAAATACAGCGACTTGATTGAAATAATTGCTGCTTCTATTTATGGAGTGTTTCACGCACTGTTCTGCTTTCCATTCGACATCACCTCATTTAACTCCCCTAAGGACCTTGAGAGGTAGGTGATACCTTCATCCTTCACATGAGGAAACAGAGGCTCAGGGATGTGAAATGACTTGCACAAAGTTACTCAGCTTGCCCATCCACTCTGGGATTTAAGACCAGGAGTGCCTGACTCCAGAATCCATCCATTCTTTTTTACACCGACACTTGATACTCACATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCAGTCTTGTTGCCTACAATGGAGTACAGTGGTGCGGTCTCAGCTCACTGCAACCCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGATGCTCCCATTCCTAACGCAAGTGACCTCCCTTCTCTGAGCCTCCATTTCCTCATTCACAAATTGGGGACACTAATATCTATATCATTGTATCAATGTGACAATGGACAAAGTATGGCAAAAGCAAAGGTACAATGCAGATACAAAGGCTGCATAAAGAATGACTGGGACTTGA
|
GGACACCCCCTGTGCGCATCCCCCCACCCTCTCCACCCCCTGCCTCACCTCTCACAGTGACGCCCACTGTGGCCTGGGGAGCACGCATCACAGGTGGGGTGGCCGTCTGTGTCCAGAAAACAAGTGTGGGCAGCCCTGAGTGTGGGGGCAGATTTCTAGTCAGGAACGCAGTGGCTCCTTCCTCTCCCCCGATCCTCCTTCAGGACCAGGGGAGAGGGGAGGGGAAGAACAGGCATGTGAACTCATGTGTCCTCAGTGCCACTGCATGCCTGGCACTGTGCTAAGAGTTCCACATGCATAGCCTCATTCAACTCTCACACAAGGGGCTGAGGAGGGTGGACTACCCCATTTCACAGATGAGGCAGCTGAGGCCCTGAAAGTGAAGTGTATCTCACACCAAGTGACACTGAGCAGGCAGTAAGGCCAGGATTTAACCACTGCCTCTCAGAAGGGCCCTGGATGAAGCGGGTGTGGGAGCGGGTGGTAGACATTTCAGGGAAGGGCAGGTGCAGGCAGGGACTGGACGCACTGGCCGGCAGCAGGGTCTCCGTAGCAGGGGCACAGCTGGCAGTCCTGTGGTGTCCCCCGCTGGGCGTCCCCGTAGTATCCTGGCTGGCACTGCTCACACCGAGGGCCCTCCGTGTGATGCTGGCAGCCCTGGAGGAGCAGGATGTGAGTTGAGGCTGGGCCTCCAGAGGCCACAGATTGCTGGGGTGGGCGGAAGGAGGGCGGGACTTACCTGGCAGGCACCTGTTTCTGGCTCGCAGGCCTCTGAGTGGCCATGGCAGCTGCAGCGTTCACAGGTACCCAGGTAGAGGCCACTGGGCGTGCGTGTGTAGCCTGTGTCACAGTCCTGGGGGCAGAAAGATGGCAGTGGGAGGGACTTCCGAACACGGCCCATTCAGGTAGGGGCACTGGATGGCCAGGGCTGGGGAGGTGTGGAGGGCTCATGGAGAAGGAGCGGGAAGCACCATGGAGGGGGCTGGCTGGGCTGGCGTGGGGCCCAGGACTCACCTGGCAGGACGGCCCACGGTACCCGGGTGGGCAGGAGCACTGTTCCACTTCCAGCGCGGGGTCCTGGCCGGTTTCCTCGGGCACAGCCACGTCCATGCTGATGCCAGAGACCCTGGGCGTGACAAGACCCAGCGTGAATAGGAGTGCTGGCTCTGTGCCAGGCACGCCTGGAGTCCTCCACTGGCAGGGTCTTATTAGTCCTCCCGACAGCCCTGTCACAGTGCTGCTGGGGCCCTGTCCAGATCTCCAGAGGCTGCGAGGACCGTGGCAAACAGCTGTTACCTGCAACTTACTCCAAACCATCACCCTTCCTCACCTGGAGAGGTTATACCACCTCGTTCCCCTGGGGTCCCCAATGACAGGCTGATACAGGCTACAAGAGCCCACGGGCCTGAAAGAACGATCACTCTCCGGCGAATGACTCTCCAGAGCTCCCTGTGGGCTGAGGCTGGGGCTAGACTTGACCTGAAACCATATCCCTGCATGGCCCCTCCCCCCTCCTGCGTCCCTCTCCTTGTGAATCACATGCACCCCAATCCCCGTCTCAGGCTTCTTTCTAGGGAGCCTGGCCCCAGACCAGCCTGTATGGGAGACATTGTTAAGACTCTCCGTTTTACAGACAGGGAAAGTGAGGCACAAAAGGGTCACACAGTCTGTAAGTGGCTGTGCTGTACTGCACCGCTTAGATGGAGCCCCTCCCCAAGCCCATGCTGGTCCTCCTGCCCCGGCTCCAGACACCTGCTCTCAGCGGGCTGCTGGGCGTAGGATGCTCGGATCAGGAGGGTGTCGATGCCTGCCAGTGCCATCAGCAGGTGCTCCCGTGTGGCTGGCTGCCCATCGGGCCGCTGCCATGCTTGCTGCCAAGGAGAGGACACATGTGCTCAGCCCCTGACGTCCTGGAGTATTGAATGCCGGAGAGGCAGGAGCAAGGGCCTGCCCGCACCCCTACCCCCAGGGGACAGTATTGCTCACCTCCCGGAAAGGCACAATGAAGGTGCTGGGCTGGCCGGGGCTGGGCTCCTGGGCCACATGGTGCTCTCTAGGATGATGTTGTTACCTTGCAGCACCACCAACGGCTGCCCGTGCAGGGGTGTGGAGCCCGGCTGGGACCTCTGGGTCACTGTGAAGCGCAGCTCTCCTCCATAGGAGGTCACCTGGGACCAGGGTTAGACAGGAGCTTGCGGAGGCCTGAATTCGGGCCCTGTCACTGCTCCAGCCACCTTTTCCATGCAGTGTATCTCACTATTCTCCCAAGGCACCACGACCCTCCCGCCTCCAAGCCTTTGCCTGCGCTGTTCCTGCTGCCTGGAGTTTCCTTTGCCTTTCCACCCACTACCCACCTTGTCCCCCAGGAAGCGTGAAGGGAGGCTCCAGAAGTAGGGTCCAGATAAGAGTCTGTGGAAGGAGGAGAATCCCAGTTCCCCGGGCGTGGGGGAGAAGATGCCCTCGTTGGTGGTGTGGGTGCTTGCGGCGTTGGTCAGGCTGAAGTGACCAGGCTCCTCAGAGGCCCCATGCAACTGGGAGGAGGAGAAAGGGCTGGGATGGGGGCCGTGGCCTGGGACTGGCGCTTGGTCCATCCGGCCCAGGGCTTGGCGGTCCTGCCCGCCCACCTTGCAGAGGTACCTGGGCACGGCTCCATGAAGAGCTGGTGCAGTGGCGACTGACACCCATGCAGAAGCACTTGAGGCAGCCATCGGGGTTTCGGGTACTCAGGTGGAAAGAGCCGTCAGCACATTCATTGCACAAGCGCCCCACCACATTGTTCTGCAGGCACAGAGTTGGAGCTGAAGGACAGCCCATGGGAGAGGCTGCCTGGAGCTCTGGCCGAATCCACCCTCAGTCCAGATAAGAACCCAAGACCCAGGGGAGCCACTGAAAGAGCACATGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACAGCTGTAATCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATTGTTTGAAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAATCCAGCCTACGCGATGGGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAGAGCACATGTATGAGGCGTCATTGCCATCTGAATAGTAATTCCCACTTAACAAGCACTTAGGCAAGCATTTTTCCCTTTTCTCTTTGGCTGCCAGGGGGTTCACCAATAAATTTAGACTTGAAATACAGCGACTTGATTGAAATAATTGCTGCTTCTATTTATGGAGTGTTTCACGCACTGTTCTGCTTTCCATTCGACATCACCTCATTTAACTCCCCTAAGGACCTTGAGAGGTAGGTGATACCTTCATCCTTCACATGAGGAAACAGAGGCTCAGGGATGTGAAATGACTTGCACAAAGTTACTCAGCTTGCCCATCCACTCTGGGATTTAAGACCAGGAGTGCCTGACTCCAGAATCCATCCATTCTTTTTTACACCGACACTTGATACTCACATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCAGTCTTGTTGCCTACAATGGAGTACAGTGGTGCGGTCTCAGCTCACTGCAACCCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGATGCTCCCATTCCTAACGCAAGTGACCTCCCTTCTCTGAGCCTCCATTTCCTCATTCACAAATTGGGGACACTAATATCTATATCATTGTATCAATGTGACAATGGACAAAGTATGGCAAAAGCAAAGGTACAATGCAGATACAAAGGCTGCATAAAGAATGACTGGGACTT
|
pathogenic
| 5,212 |
Determine if the mutation at chromosome 1, position 21881311 in gene HSPG2 (heparan sulfate proteoglycan 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
CACTTATAGATGATGGGGAGCTCATCATCTTACACGGCAGCCTGTCCCATAGATGGTTCCAAATGCCTGCTTTTTATTGACCTAAACCTGCCACCCTCTTCCAATCTGCACCCACTGGCCAGTTCTGCTCTCCAGAGTCTGTTTCTTCTACCCGACACCTTTGCAGGGATTTGGAGATGACAATGCTGCCCTGCTTGAGCCTTTTCTTCTGTCAGCTCCACAATCCCAGCTCTCGCCACTATTCCTAAGAAATAAGGTCCCACCCCAAGGGCTCTTCCCCCTAGAGTTGCCCTCTGCAGGCCATGCTTCTTCATTTGGCACTCTCCAGGATTAGTCTGATGAGGGTGGAGAGGAGGGCCAACACCTCCCTTGTCTGGATGCTGTATCTCTGGGTTGTTTTTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGGGGCACGGTCTTGGCCTACTGTAACCTCCACCTCCCGGGTTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTAGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGACCTATATTTCTGTTATTGCATCCAGAGGTCATGATAGTTCATCTGGCAGTCATGACAGTCATTCTGGAGGCTTGTGCTGAGCTCATGAACACAGGGAATCTCACACATTGTCCCTTCTCCTATTTTAGTGTTCAAGTGTCTGCTGGCACTACTCACCAGGCAGTGGCCATACACAGGGTCACAGGAGCTGGCATGGCCATTGCAATTGCAACCAGAGCAGGTGCCCAGGTAGGGCCCACCAGGCACCCGAGTGAAGTGGGCATCACAGCTCTCGCAGGACAAGCCAGAATAGCCAATGGGGCATCTGTGGGGACAGGACCAAAAGAGTCGCTGCAAGGACGGTGAGGCCCTGCCGTTTCTCCTCTATCCTTGCTAGGGTCTCTGTGGTTCCCAGCCCTGCCGGCTCAGGCACCTGCACTCCTCCACACTGTGGGCACGGCCATGGCTGGTGGCATGGGTGACGGTGGTATCCATGGCGATGTCGCTAAGTCCCACGCTGGCCATCTTGGTGTTGTACACGGTCTGGATGAGCACGGCCTCCAGGCTCTGCAGCACCTGCAGCAGCTCCGCGCGCTGCACCGGCCGGCCAGACTCATGGACCCAGTGCTCCTGGGTATGGGTGAAGGTGGCAGGGGTCACACATCAGTGCCTACCCAGCCTAAATCCCCCTTTGCTCCCAGCCCTAAGGGCTCAGGCGCCACCCACCTCAGAGAACTGGACCTGGCGCTGGTTCAGAGCACCAGGTTGGGTGGGTGTGTGGCCTCGGGAGAGGAGGCGGTACCCGGCACCCATGAGGACCACGTCCGGCCGCTGCACTGGCTCCAGCATGCCACGGGCCAACTCGTAGCGCACGTTGTAACGCAGGGAGCCGCCATAGGAGTCCACCTGGCACAACAGGGTGGATCAGCACGGGCAGCTGTGGGCACACTTGACACCTCGTGCCTATGAGGTGCCTATAGTCTTCCAGCTCCTCCCTCACTCTGCCTACCTGAGACTTACTGTGTGCCAGGCACTGAGCTAGGCACAGGGAAACCGAGATGGGCGAGACTCAGGCCCTGACTCTAGGGTGTTTGGTCCATGGCAGGGTGTGGAATCATGCAGTGCACAGGGTACCCAGGGAAGCCAGTGCGGAGGCACAGAACCCAGCCCAGGCATGGGGGAGTGGTCAGGGAGGGCTCCCGGGAGGAGGGGAGGCCAGCTCTTCTTCCCAAGCCAACAGTGCAGGGGAGAGGTCCTGCCCTGAATGGATGAGCCGCTGCCACAGGGGGCTGCATCGGGGCATGGTAACACCTTTCCCTCCAAGTCTGCCTTGTTGTCCACCAACTGCAGAAGGAGCAGAGCCCACAGGAATTCTTTCCCCACCCAGGGTGGCAGCCCAGGCCCCTCACCTTGTTGCCCAGGAACTGTTCAGGCAGAGCCCAGAAGGAGTCGTGGACGAGGAAGCGGCGGGACAGGTCGACTAGCTGGAACTCGTGCAGGGATGGGTCGATCTGCAGCTGCGTGGAGGAGAGGGGTGGCGTGCCGGGCTGCGCAGGCATTGTCACATTCACACCTGTGGGTGGCAAGGGGGAGGCTGAGGGCTGCAGCCTGGGCCTGCCTGATACACCCATCTTGAGGGGCAGCAATCCAGAAAGGTGGGAAAGTTCTAGTGGAAATTTGATTTCGAGAAAACTTTGATCTCTCTTCCAAAGTGAAGAAAATGCAGTTTTTTGCCGGGTGTGGTGGCTCACGCCTATAATGCCAGCACTTTGAGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCATGACCAGCCTTCCCAACATGGTGAAACCTCGTCTCTACTAAAAATAAAAAAACTAGACAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGCAGAATCACTTGAACCCGGGAGGCGGAGGCTGCAGCGAGCTGAGATCACACCAGTGTACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAAGAAAATGCAGTTTTTTCCTCCTTCCCAAATACTGGAGCAGCATTTCCCAAAGCATGCTCTGGGAAAGTCAATGCCATGGAATGATAGCTGGGAACCATTTGGGAACCACAGGGTAAAGAAAGGACAAGGGGATTCTTTGCAGCCAGACTTCTCAGGGTCTTTCTTGCTAAGAGACCCACAGACTTTCAGGGCTGGAACAACCCTGCAGGCAGGAGAGCTACACAGGGCTGAGGAACAGGAGACCAAGTCCAGGTGTGTTGTAAGCCTGGGCAAGGGCCTCAGTTTCCTTATCTGTAAGATGGTGCTTAAAGTAGCCTGCCTCCTAGAGGTATAAGCTAAAATGAGCACATTGATATAAAATGGCTAGCTCTTATTGTTGCTGTTGTTATGATGGGTCGTCTAGTCCAACCCTCTTCTATGTACACACACACACACACACACACACACACACACACACACACACAGTCACCCTACATGGGAATTCCCTTGACAGCATCCTCCCAGATCTCTAGGACAGCTCCATCCTAGAGAACTTTCGGTGGAGTGAAAATATCCTGTACCTACACTCTTCATTACGGTAGCTGTTAGGTTGGTGAAAAAGTAATTGCTGGTTTGGTTTTGCCATTAAAAGTAATGGTACCAGCAACATGTGGCCACTGAGCACTGGAGACATGTCTTGTGCTGCTCAGGAATGAATCATTGTATTTCAATTTAAAGAGCCACACAGGGCCAGTGACTGCCACATTGGATGGTGCAGCCGTCATGGATGGAGAGCGTACAACCTCCAAAGGCCGTCCCTCCCGGCTCTGGACAACTTTGACTCTTAGCAAGTTCTTCCTTATACAGAGTCCACATCTGTCTGCCAATAGCTTCTCCCCCTCATCCTGAATTAACCCCCTGCAACCACAGGGGAATCCAGCTCCTCACCCGCAGAATGACCGAGCACAGCCCCGGGTCTAGGTTACTCAATCCTCTTTCCTCCCTGCCTTCCGGGGATGTCTTCAGGCCTCCTCCCTCCTGGTCACCATCCACACACAGGCCACCTGCTCACCCTGGAATTCCCACCACTCCCTCCCCTGGACCACCCAGATTCCAATCAGACAGCCCTGGGTTCAGCTCCCCCTCTAAACTGCTGTGTGAACCCAGGGAAGCCCCACAACATCTCAGAGCCCTGGGGCTCTCATCTTAAAACTGTGAAATCAGCCCTGACCTTGCAAGGGTTTTTGGCAGTTCGTTGACTGTCACGTCAAGCCACAGGGCCAACTGCCTGCTCACCAAATGGTGGCCACGGCCATTAGCATTGTAAATATACTGGGGGACAACTTTGGGAAGTAACTAAGTTTTGTTTTGTTTTTAGGGATGGGGTCTCACTCTGTTGT
|
CACTTATAGATGATGGGGAGCTCATCATCTTACACGGCAGCCTGTCCCATAGATGGTTCCAAATGCCTGCTTTTTATTGACCTAAACCTGCCACCCTCTTCCAATCTGCACCCACTGGCCAGTTCTGCTCTCCAGAGTCTGTTTCTTCTACCCGACACCTTTGCAGGGATTTGGAGATGACAATGCTGCCCTGCTTGAGCCTTTTCTTCTGTCAGCTCCACAATCCCAGCTCTCGCCACTATTCCTAAGAAATAAGGTCCCACCCCAAGGGCTCTTCCCCCTAGAGTTGCCCTCTGCAGGCCATGCTTCTTCATTTGGCACTCTCCAGGATTAGTCTGATGAGGGTGGAGAGGAGGGCCAACACCTCCCTTGTCTGGATGCTGTATCTCTGGGTTGTTTTTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGGGGCACGGTCTTGGCCTACTGTAACCTCCACCTCCCGGGTTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTAGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGACCTATATTTCTGTTATTGCATCCAGAGGTCATGATAGTTCATCTGGCAGTCATGACAGTCATTCTGGAGGCTTGTGCTGAGCTCATGAACACAGGGAATCTCACACATTGTCCCTTCTCCTATTTTAGTGTTCAAGTGTCTGCTGGCACTACTCACCAGGCAGTGGCCATACACAGGGTCACAGGAGCTGGCATGGCCATTGCAATTGCAACCAGAGCAGGTGCCCAGGTAGGGCCCACCAGGCACCCGAGTGAAGTGGGCATCACAGCTCTCGCAGGACAAGCCAGAATAGCCAATGGGGCATCTGTGGGGACAGGACCAAAAGAGTCGCTGCAAGGACGGTGAGGCCCTGCCGTTTCTCCTCTATCCTTGCTAGGGTCTCTGTGGTTCCCAGCCCTGCCGGCTCAGGCACCTGCACTCCTCCACACTGTGGGCACGGCCATGGCTGGTGGCATGGGTGACGGTGGTATCCATGGCGATGTCGCTAAGTCCCACGCTGGCCATCTTGGTGTTGTACACGGTCTGGATGAGCACGGCCTCCAGGCTCTGCAGCACCTGCAGCAGCTCCGCGCGCTGCACCGGCCGGCCAGACTCATGGACCCAGTGCTCCTGGGTATGGGTGAAGGTGGCAGGGGTCACACATCAGTGCCTACCCAGCCTAAATCCCCCTTTGCTCCCAGCCCTAAGGGCTCAGGCGCCACCCACCTCAGAGAACTGGACCTGGCGCTGGTTCAGAGCACCAGGTTGGGTGGGTGTGTGGCCTCGGGAGAGGAGGCGGTACCCGGCACCCATGAGGACCACGTCCGGCCGCTGCACTGGCTCCAGCATGCCACGGGCCAACTCGTAGCGCACGTTGTAACGCAGGGAGCCGCCATAGGAGTCCACCTGGCACAACAGGGTGGATCAGCACGGGCAGCTGTGGGCACACTTGACACCTCGTGCCTATGAGGTGCCTATAGTCTTCCAGCTCCTCCCTCACTCTGCCTACCTGAGACTTACTGTGTGCCAGGCACTGAGCTAGGCACAGGGAAACCGAGATGGGCGAGACTCAGGCCCTGACTCTAGGGTGTTTGGTCCATGGCAGGGTGTGGAATCATGCAGTGCACAGGGTACCCAGGGAAGCCAGTGCGGAGGCACAGAACCCAGCCCAGGCATGGGGGAGTGGTCAGGGAGGGCTCCCGGGAGGAGGGGAGGCCAGCTCTTCTTCCCAAGCCAACAGTGCAGGGGAGAGGTCCTGCCCTGAATGGATGAGCCGCTGCCACAGGGGGCTGCATCGGGGCATGGTAACACCTTTCCCTCCAAGTCTGCCTTGTTGTCCACCAACTGCAGAAGGAGCAGAGCCCACAGGAATTCTTTCCCCACCCAGGCCCCTCACCTTGTTGCCCAGGAACTGTTCAGGCAGAGCCCAGAAGGAGTCGTGGACGAGGAAGCGGCGGGACAGGTCGACTAGCTGGAACTCGTGCAGGGATGGGTCGATCTGCAGCTGCGTGGAGGAGAGGGGTGGCGTGCCGGGCTGCGCAGGCATTGTCACATTCACACCTGTGGGTGGCAAGGGGGAGGCTGAGGGCTGCAGCCTGGGCCTGCCTGATACACCCATCTTGAGGGGCAGCAATCCAGAAAGGTGGGAAAGTTCTAGTGGAAATTTGATTTCGAGAAAACTTTGATCTCTCTTCCAAAGTGAAGAAAATGCAGTTTTTTGCCGGGTGTGGTGGCTCACGCCTATAATGCCAGCACTTTGAGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCATGACCAGCCTTCCCAACATGGTGAAACCTCGTCTCTACTAAAAATAAAAAAACTAGACAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGCAGAATCACTTGAACCCGGGAGGCGGAGGCTGCAGCGAGCTGAGATCACACCAGTGTACTCCAGCTTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAAGAAAATGCAGTTTTTTCCTCCTTCCCAAATACTGGAGCAGCATTTCCCAAAGCATGCTCTGGGAAAGTCAATGCCATGGAATGATAGCTGGGAACCATTTGGGAACCACAGGGTAAAGAAAGGACAAGGGGATTCTTTGCAGCCAGACTTCTCAGGGTCTTTCTTGCTAAGAGACCCACAGACTTTCAGGGCTGGAACAACCCTGCAGGCAGGAGAGCTACACAGGGCTGAGGAACAGGAGACCAAGTCCAGGTGTGTTGTAAGCCTGGGCAAGGGCCTCAGTTTCCTTATCTGTAAGATGGTGCTTAAAGTAGCCTGCCTCCTAGAGGTATAAGCTAAAATGAGCACATTGATATAAAATGGCTAGCTCTTATTGTTGCTGTTGTTATGATGGGTCGTCTAGTCCAACCCTCTTCTATGTACACACACACACACACACACACACACACACACACACACACACAGTCACCCTACATGGGAATTCCCTTGACAGCATCCTCCCAGATCTCTAGGACAGCTCCATCCTAGAGAACTTTCGGTGGAGTGAAAATATCCTGTACCTACACTCTTCATTACGGTAGCTGTTAGGTTGGTGAAAAAGTAATTGCTGGTTTGGTTTTGCCATTAAAAGTAATGGTACCAGCAACATGTGGCCACTGAGCACTGGAGACATGTCTTGTGCTGCTCAGGAATGAATCATTGTATTTCAATTTAAAGAGCCACACAGGGCCAGTGACTGCCACATTGGATGGTGCAGCCGTCATGGATGGAGAGCGTACAACCTCCAAAGGCCGTCCCTCCCGGCTCTGGACAACTTTGACTCTTAGCAAGTTCTTCCTTATACAGAGTCCACATCTGTCTGCCAATAGCTTCTCCCCCTCATCCTGAATTAACCCCCTGCAACCACAGGGGAATCCAGCTCCTCACCCGCAGAATGACCGAGCACAGCCCCGGGTCTAGGTTACTCAATCCTCTTTCCTCCCTGCCTTCCGGGGATGTCTTCAGGCCTCCTCCCTCCTGGTCACCATCCACACACAGGCCACCTGCTCACCCTGGAATTCCCACCACTCCCTCCCCTGGACCACCCAGATTCCAATCAGACAGCCCTGGGTTCAGCTCCCCCTCTAAACTGCTGTGTGAACCCAGGGAAGCCCCACAACATCTCAGAGCCCTGGGGCTCTCATCTTAAAACTGTGAAATCAGCCCTGACCTTGCAAGGGTTTTTGGCAGTTCGTTGACTGTCACGTCAAGCCACAGGGCCAACTGCCTGCTCACCAAATGGTGGCCACGGCCATTAGCATTGTAAATATACTGGGGGACAACTTTGGGAAGTAACTAAGTTTTGTTTTGTTTTTAGGGATGGGGTCTCACTCTGTTGTNNNNNNNNNNNNN
|
benign
| 5,242 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 23692659, gene RPL11 (ribosomal protein L11). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_7', 'RPL11-related_disorder']
|
GGCGTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTCTGTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAA
|
GGCGTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTGTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAANN
|
pathogenic
| 5,481 |
Evaluate this variant at chromosome 1, position 23692662, gene RPL11 (ribosomal protein L11): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Diamond-Blackfan_anemia']
|
GTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTCTGTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTT
|
GTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTCTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTTNN
|
pathogenic
| 5,482 |
Mutation at chromosome 1, position 23692691, within RPL11 (ribosomal protein L11): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Diamond-Blackfan_anemia_7']
|
TACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTCTGTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTTTGGTTTTGGGATCCAGGAACACATCGATC
|
TACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCCAAATCTAAAAACCGTCTGGTCCCAGGCTTTTCAGGTTAGGAATACGCACCCTGTAGTAACTTGCCCAAGGTCACATAGCTACTAGCTGGTCGAGACAGGACCACATCTGCCTGTCTTCAAGCTCGGGACTCTTAAACCACCACTCCTTTCCGTTTGTATAAATTCTATTTGTGCCCGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCCATACCAGCCCGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACAAATTAGACCGGTATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGATATCGCGCCACTGCACTTCAACCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAATAAATAAATAAATAAATTATATTTGTTTACGTTGTTACAGAATAAATTTGCGTCATAATTTGCATGATTGATTTAATGTAGTTTTGGCGTTCTCATCACACAAGGACCACCAGCTCGTGACACTGGGAGGAGAGAACGTCCTCAAGGTCCGGAAACTCAAGGACGTGCTGATTCGGGAGCTTTCAAAAACTATTTTTGGAAAACCCAGATCCCGGTCTTCAGCCAGCGTCGCCTGCAGTGGCTAGCACTACCCACAAGGGAGAAGCCGACGCTGCAGGGCTTTGCCAAATGCGCCTCTCTTCCTCGTCTTCATCTCTGTGGTTAGCCTGGGAAAAGAGCCCGCCTCCTGGCCCATAAGGCCCTCGGCCGGAAGCTCCGCTTTCTCTTCCTGCTCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATTTGCTTTCCTTTATCCGTCGCCATCCATGGCAGGCCGAGCCTGCGGGGGCTACTTCGCCCGCAGCCCGAGGAATATGGAGCCCGCAATGCCTGCTGGCCCAAAACTAGCAGAGCCGTTCGAGCCAAGGACGCAGGGTTGAATTCTGTCACTTTCCCTGCCATCGTTTTAGGAGCGGCTCCGGGCACTTGCCCGGAGTGCTCAGAAGCACGGTCAGGAGGCTGCAGCGGGGGCAGATGGGGTGAATGGAGGGTTCTGAGGCAGGGGGGTCCGGGCCTTTTCCTGGTCCCGGGGACTTGAGACTTGCTCGGTGCTAGGAAACCTTAGTCGGTTGCTCCGCTTAGGGAAGGTGCCAGCCTTTAGACAGCTTCCGAATAGGATGCTGGACGTCGCATAACCACGTGTTTCCTGTTAACTGAGCAATTAAGTTCTGTTTCTTCGCTCACTCCCCTTAGTTGGCCTTACAATGGGGGCGCTCTTTGTTACCCTGAGCCTCTTAGGGTTCGATCTCAGTGTCCGTATCTTTTAACACTCAATAACTGTCCTGAGTTTTCTCTTCACCCGTTCCGTTCGTGGAGGAAGGATAGGTTCCGAGCTGTCTTCTTCCCTTGATGTCCCCTAAACATTATACCTTTTAAACATTCAGGGTCTTCGTTACGATTTGGGATGAGCAGAAATAAAAATGCTGTGCAGATAGAAAGTAGTAAAACTCAGGGCCCTCAGCTGTGAGTGTATTGACTGCTGCTCTTCCCTGTTGCAGCAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTCTGTCTCAACATCTGTGTTGGGGAGAGTGGAGACTGACGCGAGCAGCCAAGGTGTTGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGTGAGTAGTCACAAGGACATACAGGGTTTGCCTGCTTGGGTCGCTTGGTTGTTTCTTGATTTACCTGCTGTCGAGTCTGTTTAGAAAGTGACAGTCGGCATCACTTAAAGCATTAAATTCATGAGCCGGCCAAGAGGTGTCTTTTTTTTTTTTTTTTATTCAAGATGGCGTGTGGGATTGGAACACTAGATTTTATTTGAGCAGATCTTAAGCTAAGACTAGCCCAAGTAAAGATTTTCCTAAGTAACTAGGATATGAGATAGAGTGGAAATGTCAGGAACGAAGTAAAGATCATTAGATCTGATTAGCAGTTAGGGTTATATAGGCTGCATTAAGAACAGGGCTGTACGGGAGCATGAGGCTTCAGTGGCCTATATTAGTGCCACTGCACTCCAGCCTGGTTGACCCTATCTCAAAAGTTGTATACAGATTGCCTGGGTTTGAGTGATGGCTTCACCATTTGCTGGTCTGACTCTGGGCTCTCTGGACCTCTGCTTTTTTCTTTGCATAAAGAGGGTAATACTTTATAATTGTGGAAGATAAAATGAGTTGTACATGTGTAGTTGCTTTAGGACAGTGAAATATGGCAAGTCTTTGGATTCCACTCCTGCTTTTTGTTACCAGCTGTGATGTTTGGCAAGTTAATAAACCTCTCAAAACCTCACCTGTAAAATATGGATAACAGTACAATAAGGTTTCAGCAAATAGTAGATGTTGTCAATAATGCTTTGTTTTCTTTGGAACATGATAATCTTACTAGTGGCTTCTTCGGCCTATTCTGGTTGTGACCTTGCCCTTCCTGGAACTTCGGCGTTATGACTGTTCTTAACTGCTGAAGGATGGCTGGATGTCTGGAAATGGGAAAATCTGTGCTGTGGATGAAATCTTATTAATAGATGTGGGAGACACTAATTAGAACACCACAACTTAAAAGAGTGTGGATGAATGCTTAATGTCTCTTTAAGTCATGGAGATGGTGTTCTGGGAAAGAGGTGAGTGTAGTGGGGGTATGATGGCATCTGACTCCTTGTTACCCACTTCCTGCAGCTAGATACACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTTTGGTTTTGGGATCCAGGAACACATCGATCNNNN
|
pathogenic
| 5,484 |
A genetic variant at chromosome 1, position 23695862, affecting gene RPL11 (ribosomal protein L11)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_7']
|
CACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTTTGGTTTTGGGATCCAGGAACACATCGATCTGGGTATCAAATATGACCCAAGCATTGGTATCTACGGCCTGGACTTCTATGTGGTATGAATATTTAATCTTTTCCCGCTCCTGGTCTGTGAGGAGAGGGGAATCTTTATTTCATATGTGGTATGTTGGTGTTCACATGTTGAGTTGCAGCTTTGAATATTGTCTGCCTTTGTGTTCTCCTCCCCCTTGGGGAAATGTGCCTCATTTGTGGCAAATGTAGGGGTGCAGCTCTGAACAAGGTGGACAAGATCCCTGCTGTTGGGGAACTTGCAGTCGAGGATCTGTAAAGCACCCACATGGCTTAAAGGTGGATGAAGGAAACTGTTCCCTCCAGCCAGTGATTTGAAACTTTGGAGAGAGGCAGTATTGGTGCCACATTTGGCCTATGGGTTGGTTGGCTGCACTGAGGCTGTTCTCCCCCTGGTTCTTCCTATAGAAACAGCTTTGGGTGATGCAGTGGTTTGCTCAGGAAGGGGGTTTTAACATAGAAATGACCTTTTGTGTTACTGCCGTGTTTTGGTCCAACAATAAAACTGAATAGCCTAAATCAGAAGTCCTGACTAGTGTGGAACCTGAAAGATGGTGGCACCCTCATTAGACAGACAAGTAATAAGACTTGGATACTCACAGGATGTTGGAGGAACAGCACACCTTTGGGAAGCATTTTTGAGCTGAAGCAGAAGGAAGAAAATATATATATTTGTGCTTCTCAGAGTTGTATGTTTTCTACACTGCTGGTGTGGCAATAGATTTTTAAATGTTACTTTTAAAAAGAAAAATGGAGATTTGGGAGCAGTAATGGAGGATCCTCAGCACCACTGGAAAATAGGCTGGGTTAGGGGGGTGCTGAAAGTTCCAGCCTCCAAAGCAAACTTACAGTATGGCTGTGTGTTGCGTGGGATGCTGGTGGCAGCTTTGTCAGACACAGATCATGGGTCTTGCTCCAGAATCCATTGGGCTGCCAAGTGACTCTTTGAAGATCTGTCTGTAATGTGTGAGTCTTGTCCATCTGCTCTTGACTCTGAGCTGGCTAGGTGACTGTTGGTTATTCCTGGGACAGGTGCTGGGTAGGCCAGGTTTCAGCATCGCAGACAAGAAGCGCAGGACAGGCTGCATTGGGGCCAAACACAGAATCAGCAAAGAGGAGGCCATGCGCTGGTTCCAGCAGAAGGTAAAGCTGATTTATCTCAAGTGAAGTGGTGGAATGTGATGTTGGTGAATGGAGTTGGGATTTGGGGATGCAAAATATAGTACTATTTGCTGGGTATCTTCTTTAAAGTTAGAATATTGGGCATCTTGACAAATCAGGGGCTTCCAGGGATGATGGTTTAAAAGAACATCCAGAACTAGGCCTTCTCCCTGTCACCATGAATGGGGGTAGATGGAAGGGGAGGAATATGGCTTTTAACAGGAGCCCCCTTTCTCAGATGATAGTGCAGTTCAGCACAGTGTAAAAACCAGCCAGCTTCCTATTTAGTCCAGAAAAGGATGGGATTCAGAGCCCAAGTTCATGTATCAATCAGATGTGAATTCTCAAAAGTTAGCCATTGCTGCAATCTCTGCTGTTGCCTCCTGTTCTGAAAAAATTAAATCTCTTCTCTTTCAGTATGATGGGATCATCCTTCCTGGCAAATAAATTCCCGTTTCTATCCAAAAGAGCAATAAAAAGTTTTCAGTGAAATGTGCAATTCTGTTGTGTGTTCTGTGAAAGGATCCTGGCCATATTCAAGTCCTTGGACCTCAAGCCACTTAAAGCTTCGATGGGAGTAGCTGGTAACAACCCCGTCATCCTCTGATTGGATGCCAGTATTTCCTGGCAGATCCAAGTCCAAGCTTCATAGCATTCATTGCCTGTGCTTGCCACACCTTGGTTGATGTGCTGTGGTGCAGTAGCCCCATTTGGAGGGGAGGGTTTGGTTGATGTTGGGGTTTGAATTTAGAGCCTTGGTTAAGCAGGGTGCAGTGCTCCTGTGTTCCAGGAGGCCCCCTGCTATTCAGTGATTCTGTTCTGTACTAGAAATTTTATCAGCATTGATGCGTCATGAAGGAATGACAGGCTTTGGTGTGATGGTTGAGATTAAATTTAGACTTAACTGTTCAGGCTCAGGTTTCTTTTACAATGAGAGTATAAGGTTCTTGGGAGGCAGTATGTGCAGATAAGAGGGCAGTCTTTCCGTTTCCAGCCCTTTCCTTTAACTGTTACCTCGGGTGAGTTGTTAATCTGCCTCAGTTTCCTTATCTGTATCAGGAGGCAGTAATAGTAGTATCTCTCAGAGGATTAAATGATTTAATACTTAACAAAATGCTCAGACTAGCACCAGCCACGTAGTGCTCAAAAGGGGTTTCATTTTTGTGTTTGGGTATAAGAAATATTACTTCTGCTAGCTTGCTTCCCTTTGGTGCAAAAATGAAAATACTTTCCCTGTGGTGATTGTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAGTCTTGCTCTGTTGCCTGGGCTGGAGTGCAGTGGCGCGATCTCACTGCAAGCTCTGCCTCTGGGTTCACGCCGTTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTACAGGCGTCTGCCACCACGCCCGGCTGATTTTTTTTATTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGAAGGTCTAGATCTTCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCATCGCGCCCGGCCCCTGTAGTGATTTTCTATATCTAACTGAAGTCGATGCTCAAAAGCCGCCATTTTTGTTTGTTTGTTTTTGGTGGTGGTTTTTTTTGAGACAGAGTCTCTTTGTCACCCAGGCTGGAGTGTGCAGTGGCATGATCTCTGCAACCTCCGCCTCCTGGGTTCAAGCAATCCTCCCACCTCGGCGTCCCGAGTAATTAGGATTACAGCCATCCACCACCACGCCCAGCTAGTGTTTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTTGAACTCACCATCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGCAAAAGCCATCATTTTTCTGACGCAATACTTGGCCATTGGTTCATCATTTTCAATTTCAGGTTTAAATTTTGGAGCGCATGTTAATTCAGTTAGATAATTTACTAATTTGTGACT
|
CACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGTTGGATCATTTGTGGCCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACACCATCTCTACTAAAAAAAGATAAAAATTAGCCGGGCTTGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCACGACAATTGCTAGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGATATTGTGCCACTGCACTCCAGCTTAGGCCACAGAGTGAGACTCTTGTCTCAAAAAAAAAAAAGAAAAAGGATGCTTGGGAGTCATTTCATGCCTCTGCTTTCTCTGGGTTTTTCTCTGCTCTTTGGAAGCTGGGAGAGGTCATACTGGGTAGTTGGGGTGTGAATCTATAGTCGAGGTATAGTGAGGAAGTCAGGTTGTGTTCTCAGCCAAGTTTCATTGACTTCTGTTTGCTCTGGGGTGCATGTTGCAGGCTGAGCTATTAATAGTTACTTGGGGGTGGGAGGGAGTTGAAGATGACAAGGAATGTTATTGCTGCATTTTTCTCCACAGGTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCAGATACTGGAAACTTTGGTTTTGGGATCCAGGAACACATCGATCTGGGTATCAAATATGACCCAAGCATTGGTATCTACGGCCTGGACTTCTATGTGGTATGAATATTTAATCTTTTCCCGCTCCTGGTCTGTGAGGAGAGGGGAATCTTTATTTCATATGTGGTATGTTGGTGTTCACATGTTGAGTTGCAGCTTTGAATATTGTCTGCCTTTGTGTTCTCCTCCCCCTTGGGGAAATGTGCCTCATTTGTGGCAAATGTAGGGGTGCAGCTCTGAACAAGGTGGACAAGATCCCTGCTGTTGGGGAACTTGCAGTCGAGGATCTGTAAAGCACCCACATGGCTTAAAGGTGGATGAAGGAAACTGTTCCCTCCAGCCAGTGATTTGAAACTTTGGAGAGAGGCAGTATTGGTGCCACATTTGGCCTATGGGTTGGTTGGCTGCACTGAGGCTGTTCTCCCCCTGGTTCTTCCTATAGAAACAGCTTTGGGTGATGCAGTGGTTTGCTCAGGAAGGGGGTTTTAACATAGAAATGACCTTTTGTGTTACTGCCGTGTTTTGGTCCAACAATAAAACTGAATAGCCTAAATCAGAAGTCCTGACTAGTGTGGAACCTGAAAGATGGTGGCACCCTCATTAGACAGACAAGTAATAAGACTTGGATACTCACAGGATGTTGGAGGAACAGCACACCTTTGGGAAGCATTTTTGAGCTGAAGCAGAAGGAAGAAAATATATATATTTGTGCTTCTCAGAGTTGTATGTTTTCTACACTGCTGGTGTGGCAATAGATTTTTAAATGTTACTTTTAAAAAGAAAAATGGAGATTTGGGAGCAGTAATGGAGGATCCTCAGCACCACTGGAAAATAGGCTGGGTTAGGGGGGTGCTGAAAGTTCCAGCCTCCAAAGCAAACTTACAGTATGGCTGTGTGTTGCGTGGGATGCTGGTGGCAGCTTTGTCAGACACAGATCATGGGTCTTGCTCCAGAATCCATTGGGCTGCCAAGTGACTCTTTGAAGATCTGTCTGTAATGTGTGAGTCTTGTCCATCTGCTCTTGACTCTGAGCTGGCTAGGTGACTGTTGGTTATTCCTGGGACAGGTGCTGGGTAGGCCAGGTTTCAGCATCGCAGACAAGAAGCGCAGGACAGGCTGCATTGGGGCCAAACAGAATCAGCAAAGAGGAGGCCATGCGCTGGTTCCAGCAGAAGGTAAAGCTGATTTATCTCAAGTGAAGTGGTGGAATGTGATGTTGGTGAATGGAGTTGGGATTTGGGGATGCAAAATATAGTACTATTTGCTGGGTATCTTCTTTAAAGTTAGAATATTGGGCATCTTGACAAATCAGGGGCTTCCAGGGATGATGGTTTAAAAGAACATCCAGAACTAGGCCTTCTCCCTGTCACCATGAATGGGGGTAGATGGAAGGGGAGGAATATGGCTTTTAACAGGAGCCCCCTTTCTCAGATGATAGTGCAGTTCAGCACAGTGTAAAAACCAGCCAGCTTCCTATTTAGTCCAGAAAAGGATGGGATTCAGAGCCCAAGTTCATGTATCAATCAGATGTGAATTCTCAAAAGTTAGCCATTGCTGCAATCTCTGCTGTTGCCTCCTGTTCTGAAAAAATTAAATCTCTTCTCTTTCAGTATGATGGGATCATCCTTCCTGGCAAATAAATTCCCGTTTCTATCCAAAAGAGCAATAAAAAGTTTTCAGTGAAATGTGCAATTCTGTTGTGTGTTCTGTGAAAGGATCCTGGCCATATTCAAGTCCTTGGACCTCAAGCCACTTAAAGCTTCGATGGGAGTAGCTGGTAACAACCCCGTCATCCTCTGATTGGATGCCAGTATTTCCTGGCAGATCCAAGTCCAAGCTTCATAGCATTCATTGCCTGTGCTTGCCACACCTTGGTTGATGTGCTGTGGTGCAGTAGCCCCATTTGGAGGGGAGGGTTTGGTTGATGTTGGGGTTTGAATTTAGAGCCTTGGTTAAGCAGGGTGCAGTGCTCCTGTGTTCCAGGAGGCCCCCTGCTATTCAGTGATTCTGTTCTGTACTAGAAATTTTATCAGCATTGATGCGTCATGAAGGAATGACAGGCTTTGGTGTGATGGTTGAGATTAAATTTAGACTTAACTGTTCAGGCTCAGGTTTCTTTTACAATGAGAGTATAAGGTTCTTGGGAGGCAGTATGTGCAGATAAGAGGGCAGTCTTTCCGTTTCCAGCCCTTTCCTTTAACTGTTACCTCGGGTGAGTTGTTAATCTGCCTCAGTTTCCTTATCTGTATCAGGAGGCAGTAATAGTAGTATCTCTCAGAGGATTAAATGATTTAATACTTAACAAAATGCTCAGACTAGCACCAGCCACGTAGTGCTCAAAAGGGGTTTCATTTTTGTGTTTGGGTATAAGAAATATTACTTCTGCTAGCTTGCTTCCCTTTGGTGCAAAAATGAAAATACTTTCCCTGTGGTGATTGTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAGTCTTGCTCTGTTGCCTGGGCTGGAGTGCAGTGGCGCGATCTCACTGCAAGCTCTGCCTCTGGGTTCACGCCGTTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTACAGGCGTCTGCCACCACGCCCGGCTGATTTTTTTTATTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGAAGGTCTAGATCTTCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCATCGCGCCCGGCCCCTGTAGTGATTTTCTATATCTAACTGAAGTCGATGCTCAAAAGCCGCCATTTTTGTTTGTTTGTTTTTGGTGGTGGTTTTTTTTGAGACAGAGTCTCTTTGTCACCCAGGCTGGAGTGTGCAGTGGCATGATCTCTGCAACCTCCGCCTCCTGGGTTCAAGCAATCCTCCCACCTCGGCGTCCCGAGTAATTAGGATTACAGCCATCCACCACCACGCCCAGCTAGTGTTTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTTGAACTCACCATCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGCAAAAGCCATCATTTTTCTGACGCAATACTTGGCCATTGGTTCATCATTTTCAATTTCAGGTTTAAATTTTGGAGCGCATGTTAATTCAGTTAGATAATTTACTAATTTGTGACTNN
|
pathogenic
| 5,496 |
Is chromosome 1, position 23796742, gene GALE (UDP-galactose-4-epimerase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['UDPglucose-4-epimerase_deficiency']
|
GTGAAGGAATTTCTTGAGAAGCTGCTGCCTCCTGTCTAACTAGTCGCTGGCCCCAGTGCAGTACCCCAGCTCATGGGGGACTCAGCAAGCAAGCGTGGCACCATCTTGGATCTGAGCCGGTCGAGCCCCTGTCCCCACCCTTCCTGACCTGTCCTTTTCCCACAGGCCTCTGGGGGCAGGTGGCAAGGCCTGGCCGGGCCTTCCTTCCTGGCCTTAGCCACCTGGCTCTGTCTGCAGCAGGGGCAGGCTGCTTTCTTATCCATTTCCCTGGAGGCGGGCCCCCCTGGCAGCAGTATTGGAGGGGCTACAGGCAGCTGGAGAAAGGGGCCCAGCCGCTGACCCACTCACTCAGGACCTCACTCACTAGCCCCGCTTTGGGCCCCCTCCTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCTCACCCCCACTTTGTCCCCACTCTAGAGCAGGGAGGCAGTGGGGGAGGAGTTGTGTCTCGTCTTCTGTCTCCATGTGGTTTTTGGGTGTTTTTCTTGTTGTGTCCTGGATTCCGATAAAATTAAAGAAATTGCTTCCTCAACGCTCAGGCCTGGCTGATTCTATTCCAGGGGTGGATAGTGACCATCTGTGAGAACCTGCCCCAGTGTAAGAAAACTTGTTTTTATTTTTAAATACTTTGGAAAGCTCTTTCAGAGCAATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACT
|
GTGAAGGAATTTCTTGAGAAGCTGCTGCCTCCTGTCTAACTAGTCGCTGGCCCCAGTGCAGTACCCCAGCTCATGGGGGACTCAGCAAGCAAGCGTGGCACCATCTTGGATCTGAGCCGGTCGAGCCCCTGTCCCCACCCTTCCTGACCTGTCCTTTTCCCACAGGCCTCTGGGGGCAGGTGGCAAGGCCTGGCCGGGCCTTCCTTCCTGGCCTTAGCCACCTGGCTCTGTCTGCAGCAGGGGCAGGCTGCTTTCTTATCCATTTCCCTGGAGGCGGGCCCCCCTGGCAGCAGTATTGGAGGGGCTACAGGCAGCTGGAGAAAGGGGCCCAGCCGCTGACCCACTCACTCAGGACCTCACTCACTAGCCCCGCTTTGGGCCCCCTCCTGTGACCTCAGGGTTTGGCCCATGGGGCCCCCCCAGGCCCCTGCCCCAACTGATTCTGCCCAGATAATCGTGTCTCCTGCCTCCACTCAGCTGCTTCTCAGTCATGAATGTGGCCATGGCCCCGGGGTCCCCTTGCTGCTGTGGGCTCCCTGTCCCTGGGCAGGAGTGCTGGTGAGGAGGTGGAGCCTTTTGAGGGGGGCCTTCCCTCAGCTGTTTCCCCACACTGGGGGGCTGGGCCCTGCCTCCCCGTTACCCTCCTTCCCTGCAGGCCTGGAGCCTGTAGGGCTGGACTGAGGTTCAGGTCTCCCCCCAGCTGTCTCACCCCCACTTTGTCCCCACTCTAGAGCAGGGAGGCAGTGGGGGAGGAGTTGTGTCTCGTCTTCTGTCTCCATGTGGTTTTTGGGTGTTTTTCTTGTTGTGTCCTGGATTCCGATAAAATTAAAGAAATTGCTTCCTCAACGCTCAGGCCTGGCTGATTCTATTCCAGGGGTGGATAGTGACCATCTGTGAGAACCTGCCCCAGTGTAAGAAAACTTGTTTTTATTTTTAAATACTTTGGAAAGCTCTTTCAGAGCAATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTN
|
pathogenic
| 5,512 |
Clinically, how would you classify the variant at chromosome 1, position 23797705, gene GALE (UDP-galactose-4-epimerase): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Thrombocytopenia_13,_syndromic', 'UDPglucose-4-epimerase_deficiency']
|
ATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTG
|
ATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGATTCTGCTTCTGCCAGCGCCAGAGATCCTCACCTGCAACACGGCGAGGTGTGTGCTCAGGGCCCACGGTGGAATGCAGAGCCTCCCCCACCCCACAGCCCGCCCTGGGTGGGCATGCCCAGATCTGATTTAGCCCCTCCCTGGCCCCTAACTGCAGGGGTCAGGCCAGCACTCACACATCCTGTCCAGCCCTAAGGCTGCTGTCCACCCCAGCTCCTCTTGGGCCAGGCTGGGGTTGGCGTAACAGGCTGCCACATCACCTTCCCGCCGTGCCACCACCTTGTACGGGATCTGCAAGACAGGAGGTAGTTGGAGCTTAGCTGAGCCGGCCCTGGCCCAGCTGCTGGCCAGGTCTTTAAGAAGCAGAAGTGCAGAGCAGCGGCTGGCCCGCAGGCACCGGGTGCTAGGCAGGCTGAGGAGACTGGGCAGTGCCAGGTACCCTCCAGAGAGGTGAGTGGGAAGGGCCAAAGCTGCTCTGTTGCTGAGAGCTGGGTGGGGTGAGGTGGGTGAGGTGGGTGGGGCGGGGGGGCCTACCTTCTTCCCAGAGGCCTTCTCCATAGCCTGGACCATCTGCAGCACTGAATAGCCTGTGCCCGTGCCCAGGTTGTAGATCTGGCCCACGGAGAACAGGGTTTATGGAGCGGGCTGGACTGACCACGCCTCTGGGCCGCTCTGCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGN
|
pathogenic
| 5,518 |
Evaluate this variant at chromosome 1, position 23798697, gene GALE (UDP-galactose-4-epimerase): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Thrombocytopenia_13,_syndromic', 'UDPglucose-4-epimerase_deficiency']
|
GCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGGCCCTCTCCCCAGGCGGCTCGCCCTTCCCCCACCGCTGCCCGCTGGACTCTGCCCGCCGCGCCGAAGCCGCCCCCGCCCCCGCCCCGCGCCTGGCGCGGACCCCGAAAGTGGTCGCAGAGAGGCCCTGGGAAGCACGAAAGCTGGTCTGAGGCCGGCTGCGCCCCCGACAGCGGAGTGACCTTGCTCAGCCGTCGCCCACTCGGTTTTCCCAGTCTGTCTGTTGGAGGGAAGGGGAGCTAGGCCGTGGGCATACGAGGGCGGCTGGGTCTCAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCA
|
GCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGGCCCTCTCCCCAGGCGGCTCGCCCTTCCCCCACCGCTGCCCGCTGGACTCTGCCCGCCGCGCCGAAGCCGCCCCCGCCCCCGCCCCGCGCCTGGCGCGGACCCCGAAAGTGGTCGCAGAGAGGCCCTGGGAAGCACGAAAGCTGGTCTGAGGCCGGCTGCGCCCCCGACAGCGGAGTGACCTTGCTCAGCCGTCGCCCACTCGGTTTTCCCAGTCTGTCTGTTGGAGGGAAGGGGAGCTAGGCCGTGGGCATACGAGGGCGGCTGGGTCTCAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCANNNN
|
pathogenic
| 5,527 |
Considering the variant on chromosome 1, location 23798730, involving gene GALE (UDP-galactose-4-epimerase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Thrombocytopenia_13,_syndromic', 'UDPglucose-4-epimerase_deficiency']
|
CCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCTGGTAGGGTACATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGGCCCTCTCCCCAGGCGGCTCGCCCTTCCCCCACCGCTGCCCGCTGGACTCTGCCCGCCGCGCCGAAGCCGCCCCCGCCCCCGCCCCGCGCCTGGCGCGGACCCCGAAAGTGGTCGCAGAGAGGCCCTGGGAAGCACGAAAGCTGGTCTGAGGCCGGCTGCGCCCCCGACAGCGGAGTGACCTTGCTCAGCCGTCGCCCACTCGGTTTTCCCAGTCTGTCTGTTGGAGGGAAGGGGAGCTAGGCCGTGGGCATACGAGGGCGGCTGGGTCTCAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCAGAGGCACCGCCTCCTACGCCCGAGCCGCGGGCC
|
CCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGGGCCACTCCTCTGTCCCTTCCCTTTTGCCTTACCTGGGAGACATAAGGCATGAGGTTGTTGGGTATGCCCTGGGGATCCTCACCAATGCAGCCAGAGGCATGGGCACCTGTGGGGTTGAAATAGCGCAGCAGCACTGCGTTCCAAGTCTGTGGGATGTGGGTCAGGTGGTGAGGCCAGAGGCACAGGCAGCGTGTCCCAGCTGAACCCAGAGCCCTCCTCATGCCTATTCTGTTTTTTTGAGATGGAGTCTCACTATGGCCCAGGCTGGAGTGTAGTGGCCTGATTTGGCTCACTTCAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGACCACAGGCACACACCACCATGGCCGGCTAATGTTTGTATTTTTAGTAGAGATGGGGGTTTTACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTGGGCCTCCCAAAGTGCTGAGATTACAGGTATGAGCCACTGCGCCCGGCCAGTTGTCTATTTATTATCTTTAGAAACAAGCAGGGGATGGGGCCCTCCACTGCAACTGCCTGAGCCTTAGCTTCCTCCTTAGTGGGGGTGTTCGGAATCCCACCCCTGGGCTCAGGGTGGGCCCTGAGGAGTCCATCGATCAGTGGAGCCAGGGCACTGTCAAGGGGGCCCTCACCTTGTCTGCCTGGCACAGGTCCCGGATCATTTCCTCGATGAAGAACTTGGACTTGCCGTAAGGGTTGGTACAACCACCCGTGGGGTGGGCCTCATCAAGGGGCAGGTACTGGGGGTTCCCGTACACAGTGGCTGAGCTGCTGAACACCAGGTTCTTCACCCCGTGGGCCTTCATGATCTGGCCGTGGAGAGATGGCATCAGTGACCTCTGCCTCACACATTACTCCCACCCTGTTACTCCTCCACAGGAGAATGGGGCTGAGGTGATGAGCACTCTCATTTACAGATGGGGAAACTGAGACTGGGAGGTAAAGACATGAGTCCAGGATGATACAGCTTGGGCTCTGTGTTTGGCACTGCCTGCCAGGCTGGGGTCCAGCTGGACACCCTCCTAGTGTCTGTGCCCTGTCCCATGCCTCTCACCTCCAGAAGCTGGATGGTCCCGGTCAGGTTAACTCTGTAATAATCCAGAGGCTTCTGCACCGACTCGCCCACGGCCTTGAGCCCCGCAAAGTGGATGACCGCCATAAAGCTGTACTGCAGGGGTGACATGGCCAGAGGTTGCTCTACTGGTTTTAGTCCTTGGCAATGCCCTCAGCCTGCCTGCCTGCACTCACCTTTTTTTTTTTTTTTGACAGTCTCGCTCTGTTGTCCAGGCTGGAGTACAGTGGTGCCATCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGCCATCCTCCCATGCCAGCCTCCCGAGTAGCTGGGACCACAGGTATGGGCTACCATGCCCAGCTAATTTTTGTATTTTTCTGTAGAGATGGGGTTTCACTGTGTTGAGCAGGCTGGTCTTGAACACCTGGGCTCAAGTGATCTCCTCACCTCGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCTGCACCCACCTTTTTGAAGAGACGCTGTAGGGCTCCCTGGTCCAAAATGTCCATCTCCTCAAACTCCACAGAGCGGCCTGTCAGCTCCTGGACCCGCCGCAGGCTCTCAGGCAGGGAGCCCCCTCCATGTAGGCCACATCATCACGACATGGGGTGCTGTGTTCCCAGGGACTAGCCAGACACACATTCCCCGCCCGGTGGTGGAGGTGGAACCCAGGGTTTTGCTTCTGCCATCCCCTCAAGTAGCCCCAGCCCCACTGCCCCGCTCACCACGGAAGGCATTATGGAAGTTATCGATGACCACAGGCAAGTAGCCAGCCTCCAGCAGCTCCAGCACCGTGTGGCTGCCAATGTAGCCAGCCCCACCTGTTACCAGCACCTTCTCTGCCATGGCACCTGGCCCAGGATACAGAGTCTCAGAGGTGGCTGAGGCTGCCTGCTCAGAGCTTCCTTCCCACTGGAATCCTGCCCCCTAAGCTCGCTTTGGAAGGAGGCGGCAGTGTGCCCTAGGTACCAGACTGGCTCAGAAGTCAGCCCTGGGGCAAGTCTGGGTACCATCACTTTCTGGCCTTAGGCTTTGGAAATTAATTAGCCTCTTGGCCTCAGTTTCTATCTCTGTAAAACAGAGCTAATAATTGTATAAACTTCATGAGGCAGCGTGAGGGTTCAGTGAGGTGATCTTAAGGGCCCGCCACAGCAGAGCTGGGGAGACCTGACACACAGGCACCTTATTTTCTAGTTCCACTTGCCTTGGAGTTGGAAAAGATGGAATCTGAGGATCCACACTTCTTTGTCCAAGGTGACTGAGGACTGGAGAGTCCTGGGCAGAAGGAAAATGGCAGCACGATTGGGACTCCAGGGTCGCAGGAAGGGGTTCTGTCTGCTCAGACCCAGGCTTGTCCAATGCCTCCGCCTTCGCTAGGTGTAAACTGGCTCCTGGGCGCAGTGACTAATACCTCCTGCTCTAGGCGGCCCCCACCCCCTTTCCCTCAAGGGTCAGCTGGGAGGAAGCAGGAAATAGATCACATGGCCTCAAGGGTGAGGTCCTTTGCCAGGCAGGCTGAGGCCAGCTCAGGGGCAACCACACCGTGGTTGGTCCTGGAGGGGGCCCCACCCCAACCCCCGCTCAGCCTCTGCCCATGCCAGGGCCAGCCCGGTCACTCCTGGCTCAGAGTTAGGAATCCCGCCCAACTTAGGCTACTCTGGGTGGGCCGTGTAGACGTGGACTTGGCCAGGTGCGCACCTCCACCCTGAACAAACTCTGCGGGTAGTACGGGGAGGAAGCCCCAGACACTGAGGCCTTTCATTCCCAGCGACCGGGCCCGCTGCCGCCTTCCTCCACGCTGCCTCTATCCCCTTCTGGGCTCACGCAGCTCCAACCCACTTGACCAAGAGCCCTCTGCGTGCCAGGCTCCGTACCAGGCACTTTTGCATGATTTTCCTGAATTCCCCCAGCATCTCGGTGAGACAGGTGTTATCACTGGCACTTTACAGATACAGATACTAGGGCCAGAGAGGTGAAACAGTTGCCCTTCGGTCCCACAGCTGGCGACAGCGGGCTGGAATCTGGATCGCCAGGCTCGCAGCCCGGCCCTCTCCCCAGGCGGCTCGCCCTTCCCCCACCGCTGCCCGCTGGACTCTGCCCGCCGCGCCGAAGCCGCCCCCGCCCCCGCCCCGCGCCTGGCGCGGACCCCGAAAGTGGTCGCAGAGAGGCCCTGGGAAGCACGAAAGCTGGTCTGAGGCCGGCTGCGCCCCCGACAGCGGAGTGACCTTGCTCAGCCGTCGCCCACTCGGTTTTCCCAGTCTGTCTGTTGGAGGGAAGGGGAGCTAGGCCGTGGGCATACGAGGGCGGCTGGGTCTCAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCAGAGGCACCGCCTCCTACGCCCGAGCCGCGGGCCNNNNNNNNNNN
|
pathogenic
| 5,528 |
Is the genetic variant on chromosome 1, position 23802525, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']
|
CAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCAGAGGCACCGCCTCCTACGCCCGAGCCGCGGGCCCTTTAAGTGCTGACGGCCCACTCCGGCCCCGACCCCGCCCCTCCACGCCCCCAAGGAAACATGTCACTCGGGTTACGGCCACTACGGGGAGGGCGGGAGGACAAAAGGCCTCCGCGCTGTGACGAAGACTGCGCAGCGCGCGCCCGCGGAAGGCGGAAGTGGGCGGTGCCACCCCGCGAGAGGCGCCGCCGGCGCCAGGTCCCAGTAGCGGGTGGGTCCTTGCCGGTGCCCCGGGTCCCCGCGCTAGCTCGTCCCAACCCCTGGAAGAGGGCTGCGCTTCCGAGGGGGCAGGGGGCAGAGGGTAGGGGGCCCACGCCTCCGCCCCACTCTGACCCGCAGGTTTTCAGACTTGCCGGTGTGTGCCAAACCATGAATTCAAAATCTTGAACTACCCGATCCCACGGGACTAAGGCAGGAGGGGGTCGCAGGGGGCCTGGTGCTGGAAGTCCAGTTTGCAAATAAACCAAGGAGCTGGAGGAAGCTGTCAGGCCACACTAGCGGTTCCAGCGCTCTTGGCTCTCAGCCCCCACCTGCCGGGAAGGGTCGGTCTGCACTCTGCCTTCCACGACGGCAGGTTAGAAAATGATTGTTTGTTTACAATGAAAAGTAGTAGAGCTAGAGAATAATATGCACAAAATGTGACATCCTGCGTGATGAAACCAGAGCAAAGGAGCCCTAAATGCAGGAGCGCACAGGTGTCCGCGCAGCCGGGAATCAGCCAGCGCCTGCCCGCAGAGTCCAGGGAACCGACAGGTGAGCGCTCCCGGGCCCGGGAGCGCCAGGGAGAGGCCGGGCCACCGAGGCCCAAAGCAGCAAGTGTGTCCTCAGGGGAGCTTGTGCAATAGCCCCAGTCACAGAGGCAAAGCTCAGAAACAACCCCGTCGGGTGTTCTGGCCAGCAACTGCCGCAAGCAGCCTCCTGAGTAAGCCCAAAACCACTGATTTCCAGTCACTATGGATTTGGGGCTCAGGTGGGGAAACAGGGAGGAAATCCAAAGATTAATAAACTAGTTCATAGTCTCCATTTTCCTCTCAGAGTGCAACATGGTAAAGTATTTTACTCCCCCACGCGCATGTATACACACAGCTGCACAACCGAATGCTGGAATTATGATGTGCCATTCAACCTTTAATTACATAAGCTGTTTTCAAAAATCACATTCAGCGTGGAGATTTTCCAGAGATGCTGGAGTTGGCAGACGGCCACCACGTAGCTCTCCACTTTCCACAAATGGCCTCTGCCAGCTTGGGAAGAACCTCCATGACCTGTGTCCTGAGAAGTCAGAGAGCAAGGGCCCCACGGCCATGGCAGGGTGGAGCCGTGTAGAGGGTGGCCAGGTGGCCAGCTCGCGGATTCCATCCAGAGAGGAGACTCAAGGATCATGCTAAGTAGGGAACGGGGTTCCCACACGTCCTCAGGCATTCAACTCCTGGGCCAGGGTCCGTAACAAAGGGAGACTTCAGCCCTCAAAGCCTCTCACTCCTCAGGTCTGGGCAGGAGGTCCTTCTGCCAAGCAGCTCCTCCTGCCCTTCGCCTGCTTTCTGCCAGGAGAGACCTCTGTGTAGAGCTGGCTATGAGGTACCTGCACCATTTAACCTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAG
|
CAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCAGAGGCACCGCCTCCTACGCCCGAGCCGCGGGCCCTTTAAGTGCTGACGGCCCACTCCGGCCCCGACCCCGCCCCTCCACGCCCCCAAGGAAACATGTCACTCGGGTTACGGCCACTACGGGGAGGGCGGGAGGACAAAAGGCCTCCGCGCTGTGACGAAGACTGCGCAGCGCGCGCCCGCGGAAGGCGGAAGTGGGCGGTGCCACCCCGCGAGAGGCGCCGCCGGCGCCAGGTCCCAGTAGCGGGTGGGTCCTTGCCGGTGCCCCGGGTCCCCGCGCTAGCTCGTCCCAACCCCTGGAAGAGGGCTGCGCTTCCGAGGGGGCAGGGGGCAGAGGGTAGGGGGCCCACGCCTCCGCCCCACTCTGACCCGCAGGTTTTCAGACTTGCCGGTGTGTGCCAAACCATGAATTCAAAATCTTGAACTACCCGATCCCACGGGACTAAGGCAGGAGGGGGTCGCAGGGGGCCTGGTGCTGGAAGTCCAGTTTGCAAATAAACCAAGGAGCTGGAGGAAGCTGTCAGGCCACACTAGCGGTTCCAGCGCTCTTGGCTCTCAGCCCCCACCTGCCGGGAAGGGTCGGTCTGCACTCTGCCTTCCACGACGGCAGGTTAGAAAATGATTGTTTGTTTACAATGAAAAGTAGTAGAGCTAGAGAATAATATGCACAAAATGTGACATCCTGCGTGATGAAACCAGAGCAAAGGAGCCCTAAATGCAGGAGCGCACAGGTGTCCGCGCAGCCGGGAATCAGCCAGCGCCTGCCCGCAGAGTCCAGGGAACCGACAGGTGAGCGCTCCCGGGCCCGGGAGCGCCAGGGAGAGGCCGGGCCACCGAGGCCCAAAGCAGCAAGTGTGTCCTCAGGGGAGCTTGTGCAATAGCCCCAGTCACAGAGGCAAAGCTCAGAAACAACCCCGTCGGGTGTTCTGGCCAGCAACTGCCGCAAGCAGCCTCCTGAGTAAGCCCAAAACCACTGATTTCCAGTCACTATGGATTTGGGGCTCAGGTGGGGAAACAGGGAGGAAATCCAAAGATTAATAAACTAGTTCATAGTCTCCATTTTCCTCTCAGAGTGCAACATGGTAAAGTATTTTACTCCCCCACGCGCATGTATACACACAGCTGCACAACCGAATGCTGGAATTATGATGTGCCATTCAACCTTTAATTACATAAGCTGTTTTCAAAAATCACATTCAGCGTGGAGATTTTCCAGAGATGCTGGAGTTGGCAGACGGCCACCACGTAGCTCTCCACTTTCCACAAATGGCCTCTGCCAGCTTGGGAAGAACCTCCATGACCTGTGTCCTGAGAAGTCAGAGAGCAAGGGCCCCACGGCCATGGCAGGGTGGAGCCGTGTAGAGGGTGGCCAGGTGGCCAGCTCGCGGATTCCATCCAGAGAGGAGACTCAAGGATCATGCTAAGTAGGGAACGGGGTTCCCACACGTCCTCAGGCATTCAACTCCTGGGCCAGGGTCCGTAACAAAGGGAGACTTCAGCCCTCAAAGCCTCTCACTCCTCAGGTCTGGGCAGGAGGTCCTTCTGCCAAGCAGCTCCTCCTGCCCTTCGCCTGCTTTCTGCCAGGAGAGACCTCTGTGTAGAGCTGGCTATGAGGTACCTGCACCATTTAACCTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGNN
|
pathogenic
| 5,534 |
Evaluate the clinical significance of the mutation at chromosome 1, position 23804409 in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']
|
TGCACCATTTAACCTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGGCCACAGAGATGAGCCTTGCAAACCTCCCAATCGTCTGTTGCCTGAAATTCTAGAGTCATTCTTTGCTTTGGCTTATGATTCTGTTGACATGACAATCCCACAGAAAGAGACAGTGCTTCTCCTTTTAGTTTCTGTTAAACTGTTTCCTCTGCCAGCAGTATCTTTCCTTTCATGGTGAACTCTCATTCTTTAGGTTCCAGTCTGAAAGCCACCTGCTCAGGGAGACCTTTTCTGATCACCAGCCTAACCCCCTCCCACTGCTGAGATTTCAGACCCCTGTTGTTTACTGTGATTCATTTATTACCCCCCCCCCACTTACCCCCCACCACCTCCAGGCTACTCTCACTCAGTCAGGGCCTTGCCACACGAGGGCCACATCCCATCTTCCCAGGTCAGTCACCTCCCACTATCCCAAATGACTATTTCACTTTCTCCTCTCTTCTTAAACCTCTATCACCCCCTTCCCCATCCTCATTCTCATCTGCTGCTTTATGGAAATGGATGCAATCAAGAGATGTCTCCATTGATTCCCACCATCACATCTACCCACCTGCCTACATCTGGGCCTACAGACCCACTGTCCCTCATGCTGCCTGAGATGGACCCTGAGCTCCTAGCCAAGGCCAACCCCTCCACCTTGGCGTGAGGCCCATTCCCACCTGCTTCAGGATGTGCTCCAGTAAGTCTCTCCCTCTCTGCTGCAACCTGTTACTCCCCTCCACTGGGTCATCTTCACACAGCCTGCGATCTCTCCCATCTTTTACAAACCTTTTTGGAACCCTCTAACCTCCAATTTCTTTCCCCCCATTCAAAGCAAAGTCCCTCAAAAGAGCTGTTCCCATTTAACATCTACCATTCTCATTTGAACCCATTCGAAACAGGTTTGCGTCCCCACAACTCCTCCACTGAAACAGCTCTAGTCAAGGCCACTGGTGGCCTCCATGTAGCTAAGTACAAAGGTCAAGTCTCTTCATCTTTGCACTTGACTAGCCGCATCATCTTGGACACCTTCTCCATGTGGCTTCCAGGGCTCCACATCCCTTGGTTTTCCTCCTAGTGCTCTAGCCTCTCCTGAGGCCTCGATCCAGTCTTTGCTGGCTCTTCCTCACCTCCCTGATCTCGGTTGGAGCCCTTACTGCTCATTCCTCAGACAGCTTCTCTATCTCCACTCACTCCCAGTTAACTGCACCCAGGTTAACACACCTGCCTATAGATGTCTCGAGCTTCACAGATCAGAACACGAACTGCTGAGATCCGGTCACGCACCTCTGCCCTCCAGGCCTCCTTGCCATGTCTCTCACCTGGATTGCTGTAGGCTCCAAACTGGTTCTTCTCTCTACAGTGTATTCTCTACACAGCACCCAGAGGAGCCTCTTTTTTTTTTTTGATAAGAAGTCTCACTCTGTTGCCTAGGCTGGAGTGCACTGGCGCCATCTCAGCTCACTGCAAATCACTGCAACCTCCACCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCGCAAATAGCTGGGATTACAGGCTCACGCCACCACGCCCAGCTAATTTTTATATTTTTAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAG
|
TGCACCATTTAACCTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGGCCACAGAGATGAGCCTTGCAAACCTCCCAATCGTCTGTTGCCTGAAATTCTAGAGTCATTCTTTGCTTTGGCTTATGATTCTGTTGACATGACAATCCCACAGAAAGAGACAGTGCTTCTCCTTTTAGTTTCTGTTAAACTGTTTCCTCTGCCAGCAGTATCTTTCCTTTCATGGTGAACTCTCATTCTTTAGGTTCCAGTCTGAAAGCCACCTGCTCAGGGAGACCTTTTCTGATCACCAGCCTAACCCCCTCCCACTGCTGAGATTTCAGACCCCTGTTGTTTACTGTGATTCATTTATTACCCCCCCCCCACTTACCCCCCACCACCTCCAGGCTACTCTCACTCAGTCAGGGCCTTGCCACACGAGGGCCACATCCCATCTTCCCAGGTCAGTCACCTCCCACTATCCCAAATGACTATTTCACTTTCTCCTCTCTTCTTAAACCTCTATCACCCCCTTCCCCATCCTCATTCTCATCTGCTGCTTTATGGAAATGGATGCAATCAAGAGATGTCTCCATTGATTCCCACCATCACATCTACCCACCTGCCTACATCTGGGCCTACAGACCCACTGTCCCTCATGCTGCCTGAGATGGACCCTGAGCTCCTAGCCAAGGCCAACCCCTCCACCTTGGCGTGAGGCCCATTCCCACCTGCTTCAGGATGTGCTCCAGTAAGTCTCTCCCTCTCTGCTGCAACCTGTTACTCCCCTCCACTGGGTCATCTTCACACAGCCTGCGATCTCTCCCATCTTTTACAAACCTTTTTGGAACCCTCTAACCTCCAATTTCTTTCCCCCCATTCAAAGCAAAGTCCCTCAAAAGAGCTGTTCCCATTTAACATCTACCATTCTCATTTGAACCCATTCGAAACAGGTTTGCGTCCCCACAACTCCTCCACTGAAACAGCTCTAGTCAAGGCCACTGGTGGCCTCCATGTAGCTAAGTACAAAGGTCAAGTCTCTTCATCTTTGCACTTGACTAGCCGCATCATCTTGGACACCTTCTCCATGTGGCTTCCAGGGCTCCACATCCCTTGGTTTTCCTCCTAGTGCTCTAGCCTCTCCTGAGGCCTCGATCCAGTCTTTGCTGGCTCTTCCTCACCTCCCTGATCTCGGTTGGAGCCCTTACTGCTCATTCCTCAGACAGCTTCTCTATCTCCACTCACTCCCAGTTAACTGCACCCAGGTTAACACACCTGCCTATAGATGTCTCGAGCTTCACAGATCAGAACACGAACTGCTGAGATCCGGTCACGCACCTCTGCCCTCCAGGCCTCCTTGCCATGTCTCTCACCTGGATTGCTGTAGGCTCCAAACTGGTTCTTCTCTCTACAGTGTATTCTCTACACAGCACCCAGAGGAGCCTCTTTTTTTTTTTTGATAAGAAGTCTCACTCTGTTGCCTAGGCTGGAGTGCACTGGCGCCATCTCAGCTCACTGCAAATCACTGCAACCTCCACCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCGCAAATAGCTGGGATTACAGGCTCACGCCACCACGCCCAGCTAATTTTTATATTTTTAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGN
|
pathogenic
| 5,537 |
Clinical classification of chromosome 1, position 23804422, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'HMGCL-related_disorder']
|
CTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTAGCATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGGCCACAGAGATGAGCCTTGCAAACCTCCCAATCGTCTGTTGCCTGAAATTCTAGAGTCATTCTTTGCTTTGGCTTATGATTCTGTTGACATGACAATCCCACAGAAAGAGACAGTGCTTCTCCTTTTAGTTTCTGTTAAACTGTTTCCTCTGCCAGCAGTATCTTTCCTTTCATGGTGAACTCTCATTCTTTAGGTTCCAGTCTGAAAGCCACCTGCTCAGGGAGACCTTTTCTGATCACCAGCCTAACCCCCTCCCACTGCTGAGATTTCAGACCCCTGTTGTTTACTGTGATTCATTTATTACCCCCCCCCCACTTACCCCCCACCACCTCCAGGCTACTCTCACTCAGTCAGGGCCTTGCCACACGAGGGCCACATCCCATCTTCCCAGGTCAGTCACCTCCCACTATCCCAAATGACTATTTCACTTTCTCCTCTCTTCTTAAACCTCTATCACCCCCTTCCCCATCCTCATTCTCATCTGCTGCTTTATGGAAATGGATGCAATCAAGAGATGTCTCCATTGATTCCCACCATCACATCTACCCACCTGCCTACATCTGGGCCTACAGACCCACTGTCCCTCATGCTGCCTGAGATGGACCCTGAGCTCCTAGCCAAGGCCAACCCCTCCACCTTGGCGTGAGGCCCATTCCCACCTGCTTCAGGATGTGCTCCAGTAAGTCTCTCCCTCTCTGCTGCAACCTGTTACTCCCCTCCACTGGGTCATCTTCACACAGCCTGCGATCTCTCCCATCTTTTACAAACCTTTTTGGAACCCTCTAACCTCCAATTTCTTTCCCCCCATTCAAAGCAAAGTCCCTCAAAAGAGCTGTTCCCATTTAACATCTACCATTCTCATTTGAACCCATTCGAAACAGGTTTGCGTCCCCACAACTCCTCCACTGAAACAGCTCTAGTCAAGGCCACTGGTGGCCTCCATGTAGCTAAGTACAAAGGTCAAGTCTCTTCATCTTTGCACTTGACTAGCCGCATCATCTTGGACACCTTCTCCATGTGGCTTCCAGGGCTCCACATCCCTTGGTTTTCCTCCTAGTGCTCTAGCCTCTCCTGAGGCCTCGATCCAGTCTTTGCTGGCTCTTCCTCACCTCCCTGATCTCGGTTGGAGCCCTTACTGCTCATTCCTCAGACAGCTTCTCTATCTCCACTCACTCCCAGTTAACTGCACCCAGGTTAACACACCTGCCTATAGATGTCTCGAGCTTCACAGATCAGAACACGAACTGCTGAGATCCGGTCACGCACCTCTGCCCTCCAGGCCTCCTTGCCATGTCTCTCACCTGGATTGCTGTAGGCTCCAAACTGGTTCTTCTCTCTACAGTGTATTCTCTACACAGCACCCAGAGGAGCCTCTTTTTTTTTTTTGATAAGAAGTCTCACTCTGTTGCCTAGGCTGGAGTGCACTGGCGCCATCTCAGCTCACTGCAAATCACTGCAACCTCCACCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCGCAAATAGCTGGGATTACAGGCTCACGCCACCACGCCCAGCTAATTTTTATATTTTTAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCT
|
CTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACAGCGGGGCACCAGCTGCCTGTGAGCTCCTGTCTGTCTGGCACCTGGGTTATTCCTCTGACTCCCCCTCATGTAAGATGCCCAATCTCTGTCATGGTTTGTAGTGCCACTACCAGGGCACAGATCTTATCAGTCTTGTTCAGTACTCCCTCTTCAGGGCCCAGCACAGGGCCTGGCCCACAGAGGTAAAAAACTGATATTCAAGTGACAATTGTGAGGCAGAGAGGGAGGGATAAAAACACCAACTGAAAGGGCCAGACAGAAACCCTCTGTTCATACAGTAGCTCATATTTGCTGAAGTGCACTCTGTGCTCAGCTCTGTGATAAGCATTCTACATAACTTTTCTTTCTTTTTTTTTTTGGAGACAGAGTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGCACGCTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGTGTGTGCCACCACACCCAGCTAATTTTTCTTTTCTTTTTTTTGAGAGGGAGTCTCACTGTGTCGCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCTGACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCAGCAATTTTTCTATTGTTAGTGGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCTGGCCCTCTACGTACGTTTTCTTACTTAATCCTCACAATGGCTCCATGAGATGGATGGCATTATTATTCCCATTTCTTAGGTTCAGAGAGATGAAATAATTTGTCTGAGGTCTCATAGCCTGGGAGTGGCAGGAGTAGGCTTTAAACCCAGTTCCATCTGATCTTTAAGCACAGATGCTATTCTGCTTCCGTCCCGCCACTGAGGGCCCTGGTGGACTCTGGCGGATCCCTGGTGAGCTGTCTAACGCTACTGTCCTCATTTTACAGAGAACAAAACAAAGCCAAGAGAGAACTGACTCATTTCAGGTCATGAACCTGACCCTTCCCAGGGCCCCTTCCATGTTCCTGGTGTCTCCTAGGACTGAACTGTCAAAGTCACCCTGACACTCCAGCCTTCTTATGCCCATGCGTGTGGCCTCACTCAACCCTACTCTCACAAACATTAAAATATTAGATCAAATATCCATAATCCCCAACACCCTTCCCCTCTTTTGTTTTGTTTTGAAGAGATAGGGTCTTGCTGTTTCACCCAGGCTGGAGTACACTGGCAGGATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCTGGCTAACCCTTTCCCTCTTTACTCCTCAGCACCTTAACAACCCCAAATACCCCCATCCACTTTTGTTCTCAGCTTCAGGCCCCCTGGTCAGTTCGGGGCTGTCGCCACCAGGGGGTGGGTGGGCTTACCGTGTGAATGCCCAAGCCCTCTACATGTAGACCAGGTCTTCTGTGGCCAAGTTTCCTGATGCCCCCTGTGCGTAGGGACAGCCTCCAAGTCCTGCCACAGAAGAGTCCACGACACTCACTCCCATCTAGAAACATAAGGATGGTGAAACACAGTTGTTGCTGGGGACAAGAGGCCACAGAGATGAGCCTTGCAAACCTCCCAATCGTCTGTTGCCTGAAATTCTAGAGTCATTCTTTGCTTTGGCTTATGATTCTGTTGACATGACAATCCCACAGAAAGAGACAGTGCTTCTCCTTTTAGTTTCTGTTAAACTGTTTCCTCTGCCAGCAGTATCTTTCCTTTCATGGTGAACTCTCATTCTTTAGGTTCCAGTCTGAAAGCCACCTGCTCAGGGAGACCTTTTCTGATCACCAGCCTAACCCCCTCCCACTGCTGAGATTTCAGACCCCTGTTGTTTACTGTGATTCATTTATTACCCCCCCCCCACTTACCCCCCACCACCTCCAGGCTACTCTCACTCAGTCAGGGCCTTGCCACACGAGGGCCACATCCCATCTTCCCAGGTCAGTCACCTCCCACTATCCCAAATGACTATTTCACTTTCTCCTCTCTTCTTAAACCTCTATCACCCCCTTCCCCATCCTCATTCTCATCTGCTGCTTTATGGAAATGGATGCAATCAAGAGATGTCTCCATTGATTCCCACCATCACATCTACCCACCTGCCTACATCTGGGCCTACAGACCCACTGTCCCTCATGCTGCCTGAGATGGACCCTGAGCTCCTAGCCAAGGCCAACCCCTCCACCTTGGCGTGAGGCCCATTCCCACCTGCTTCAGGATGTGCTCCAGTAAGTCTCTCCCTCTCTGCTGCAACCTGTTACTCCCCTCCACTGGGTCATCTTCACACAGCCTGCGATCTCTCCCATCTTTTACAAACCTTTTTGGAACCCTCTAACCTCCAATTTCTTTCCCCCCATTCAAAGCAAAGTCCCTCAAAAGAGCTGTTCCCATTTAACATCTACCATTCTCATTTGAACCCATTCGAAACAGGTTTGCGTCCCCACAACTCCTCCACTGAAACAGCTCTAGTCAAGGCCACTGGTGGCCTCCATGTAGCTAAGTACAAAGGTCAAGTCTCTTCATCTTTGCACTTGACTAGCCGCATCATCTTGGACACCTTCTCCATGTGGCTTCCAGGGCTCCACATCCCTTGGTTTTCCTCCTAGTGCTCTAGCCTCTCCTGAGGCCTCGATCCAGTCTTTGCTGGCTCTTCCTCACCTCCCTGATCTCGGTTGGAGCCCTTACTGCTCATTCCTCAGACAGCTTCTCTATCTCCACTCACTCCCAGTTAACTGCACCCAGGTTAACACACCTGCCTATAGATGTCTCGAGCTTCACAGATCAGAACACGAACTGCTGAGATCCGGTCACGCACCTCTGCCCTCCAGGCCTCCTTGCCATGTCTCTCACCTGGATTGCTGTAGGCTCCAAACTGGTTCTTCTCTCTACAGTGTATTCTCTACACAGCACCCAGAGGAGCCTCTTTTTTTTTTTTGATAAGAAGTCTCACTCTGTTGCCTAGGCTGGAGTGCACTGGCGCCATCTCAGCTCACTGCAAATCACTGCAACCTCCACCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCGCAAATAGCTGGGATTACAGGCTCACGCCACCACGCCCAGCTAATTTTTATATTTTTAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTN
|
pathogenic
| 5,538 |
A genetic variant on chromosome 1, position 23808179, affects the gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']
|
TAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCGCTTCCCTCAGGTCTCTCTCAAATGCTACCTTCTGAGTGAGGCCACTCTACAGAAAGGCCTGGCACTGCCTTAACCTGCTTCATTTTTTCTCCACAGTGTTTATGAACACCTGGCCTGCTGTATGTTTGTTTATTTATTATCTGTCTCATAGTACTAGAGTGTCAGCCTCATGAGGGCAGAGACTCTGTTTTGGTCACAGCTGAATCCTTAATGCTGAGAACAGTGCCTAGCACACTAGGCACCGTTAGGTTAGGTTTTAATAGGTGAATAAATGGTCTTACAATGTGCTATTTACACGCCTGTAATCTTCCATCTGTCTTCCCCACCCACCATAACATGAGCTCCCAGAGGGCAGGGATTGGGTCTTGTTACCATTGTCTAAGTCAGCACTTAACCTGGCACATCGATCCATATTTCCGAAGTAACTGATGGAAGAGGGAGGTCAGAGGAAGCTACTGCCAGACGTCACACAGCTCAACCTGTTCCCTGATAAATTTTCAAAAAGGGGATTCTGAGATATCACTGCCATGAAACAGAGAAGCACAGAGGAGCAGGAGTGTCCTGAGCGTGATCAGGATGAAGTTTTGCCTCAGACTCACCTCAGCTGTGCAGAATTCCCCTTTACCTGCCTGGCAAGGCATAGGAGAGGAAGTCACTCTTCCTGTCTGCCTGGCTGGGAAACGCATGAGCTGAAGGAAAGCCCAGGAACCAGGGCAGGGTATCACAGTAAGCTGAAAAATGAGGAGACCACAGAACTACGAACCTTAACCTTGACAGCCACAACTCTGAGGAAACCGACCCAGAACATAACAGACTCACCTGGCTTAGACACGAACCTCTAGGGGATAATTGAGAGGAAAAAAAAAGTGGCTGGAACTGCCATCACTATCCTAGAGATGGAAGGTTAGGCCAATGCTACAGCAAGGTAGCTGTGGTCAGACACTAAGAATGCTCCTTCTATCTGGCTGCCAGCCAATGGATCTCCATTCTGGACCAGCCCACGAGAAGCAAACCTCAAAGGAAACTAATCTGAGGTCTTAGCTCAATCTGTGGGGAACGGCATTAAAGCCTCTCCCTCTGAGTGACCTCTGCTAGCTTCTCTACCTCCTGCTTCCTCATCTGCTTCTGCTACACACCCGCACACTGAAAACCCTGTATATTGTATGAGTCCTCCCTGAACCCCACATCAGTCCTGAGGTGCAATTCTGCCTAGTCATCTTTCCTCTTCCCTCAACAGCAGCTTACTTTATGTTCTTCAAGCTTCACTGAGGCCTCTTTTGCAAATCCTCCCAGATCTCCTCAGCTGGGATGGGGCCCCTCTAGGCTTCCTGAGCCCCATGCTTCCTCCCTTCATGGCATCTGTCATAATGCAGTGGGATTGCCATGTAACTCCCTTGACTGTCTCCCCAACACAGAGCTGTACACTTCACATCTGGGCAGGGTCACCATGACTGTGTCCACCATTGCCAGCTTGGAACCTGGCATACTGGCATCAGTAAATGTTTGCTGAAAGAATAAATGATAACAAGCTGTCCTGCCCACCGTGACCTTTGGGAGAATGGGCATATGCTTTTGATTACCTGCAGGGCCATCAAGGTGTTGGCCAGGGCTTGACCATAGGTGTCATGGCAGTGGACAGCCAGGGCAGCCAGAGGCACTTCCTGCATGACAGCAGATAGCATGTCTTTCATGATCCCTGGGGTGCCCACACCAATGGTGTCCCCCAGGGAGATCTCGTAGCAGCCCATTGAGTAGAACTTCTTGGTGACCTAAGGAAGCAAGCAGGCACTTGGAGGATACAGAATCCACCAGCCAGGGGATCCATGCACTCAGAAGAGGGGGCCTTTGCCTGGGCAGAACACTTCTGGGTATGACGCACTCAGTTCCTACTGGATTACATGCTCCTCACCACTCCAACTGGGAATGATGATCCTCAATCTATGATCAGGAGACTGAGGCGTAAGGGGCAGAGCCAGCCGCTGGAGCCAGCCCACAGTCCTGAAGCTCCAACCCCCGTGCTTTCCTCCCTACCTGTGCCCCTCAGACTTCAGTCTCACTTACGGCTGTCACATCATACTGTCAGACCCAGGTGCTGGAATCAGTGAAGTTGATTCCTTCCATGTCGTTTTATCCTCAGCAATAAAATCCATGAAATCATGGGTCTGAGATGCTAGTTATATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAAC
|
TAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCGCTTCCCTCAGGTCTCTCTCAAATGCTACCTTCTGAGTGAGGCCACTCTACAGAAAGGCCTGGCACTGCCTTAACCTGCTTCATTTTTTCTCCACAGTGTTTATGAACACCTGGCCTGCTGTATGTTTGTTTATTTATTATCTGTCTCATAGTACTAGAGTGTCAGCCTCATGAGGGCAGAGACTCTGTTTTGGTCACAGCTGAATCCTTAATGCTGAGAACAGTGCCTAGCACACTAGGCACCGTTAGGTTAGGTTTTAATAGGTGAATAAATGGTCTTACAATGTGCTATTTACACGCCTGTAATCTTCCATCTGTCTTCCCCACCCACCATAACATGAGCTCCCAGAGGGCAGGGATTGGGTCTTGTTACCATTGTCTAAGTCAGCACTTAACCTGGCACATCGATCCATATTTCCGAAGTAACTGATGGAAGAGGGAGGTCAGAGGAAGCTACTGCCAGACGTCACACAGCTCAACCTGTTCCCTGATAAATTTTCAAAAAGGGGATTCTGAGATATCACTGCCATGAAACAGAGAAGCACAGAGGAGCAGGAGTGTCCTGAGCGTGATCAGGATGAAGTTTTGCCTCAGACTCACCTCAGCTGTGCAGAATTCCCCTTTACCTGCCTGGCAAGGCATAGGAGAGGAAGTCACTCTTCCTGTCTGCCTGGCTGGGAAACGCATGAGCTGAAGGAAAGCCCAGGAACCAGGGCAGGGTATCACAGTAAGCTGAAAAATGAGGAGACCACAGAACTACGAACCTTAACCTTGACAGCCACAACTCTGAGGAAACCGACCCAGAACATAACAGACTCACCTGGCTTAGACACGAACCTCTAGGGGATAATTGAGAGGAAAAAAAAAGTGGCTGGAACTGCCATCACTATCCTAGAGATGGAAGGTTAGGCCAATGCTACAGCAAGGTAGCTGTGGTCAGACACTAAGAATGCTCCTTCTATCTGGCTGCCAGCCAATGGATCTCCATTCTGGACCAGCCCACGAGAAGCAAACCTCAAAGGAAACTAATCTGAGGTCTTAGCTCAATCTGTGGGGAACGGCATTAAAGCCTCTCCCTCTGAGTGACCTCTGCTAGCTTCTCTACCTCCTGCTTCCTCATCTGCTTCTGCTACACACCCGCACACTGAAAACCCTGTATATTGTATGAGTCCTCCCTGAACCCCACATCAGTCCTGAGGTGCAATTCTGCCTAGTCATCTTTCCTCTTCCCTCAACAGCAGCTTACTTTATGTTCTTCAAGCTTCACTGAGGCCTCTTTTGCAAATCCTCCCAGATCTCCTCAGCTGGGATGGGGCCCCTCTAGGCTTCCTGAGCCCCATGCTTCCTCCCTTCATGGCATCTGTCATAATGCAGTGGGATTGCCATGTAACTCCCTTGACTGTCTCCCCAACACAGAGCTGTACACTTCACATCTGGGCAGGGTCACCATGACTGTGTCCACCATTGCCAGCTTGGAACCTGGCATACTGGCATCAGTAAATGTTTGCTGAAAGAATAAATGATAACAAGCTGTCCTGCCCACCGTGACCTTTGGGAGAATGGGCATATGCTTTTGATTACCTGCAGGGCCATCAAGGTGTTGGCCAGGGCTTGACCATAGGTGTCATATGGCAGTGGACAGCCAGGGCAGCCAGAGGCACTTCCTGCATGACAGCAGATAGCATGTCTTTCATGATCCCTGGGGTGCCCACACCAATGGTGTCCCCCAGGGAGATCTCGTAGCAGCCCATTGAGTAGAACTTCTTGGTGACCTAAGGAAGCAAGCAGGCACTTGGAGGATACAGAATCCACCAGCCAGGGGATCCATGCACTCAGAAGAGGGGGCCTTTGCCTGGGCAGAACACTTCTGGGTATGACGCACTCAGTTCCTACTGGATTACATGCTCCTCACCACTCCAACTGGGAATGATGATCCTCAATCTATGATCAGGAGACTGAGGCGTAAGGGGCAGAGCCAGCCGCTGGAGCCAGCCCACAGTCCTGAAGCTCCAACCCCCGTGCTTTCCTCCCTACCTGTGCCCCTCAGACTTCAGTCTCACTTACGGCTGTCACATCATACTGTCAGACCCAGGTGCTGGAATCAGTGAAGTTGATTCCTTCCATGTCGTTTTATCCTCAGCAATAAAATCCATGAAATCATGGGTCTGAGATGCTAGTTATATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTA
|
pathogenic
| 5,540 |
Evaluate the clinical significance of the mutation at chromosome 1, position 23808274 in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']
|
TACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCGCTTCCCTCAGGTCTCTCTCAAATGCTACCTTCTGAGTGAGGCCACTCTACAGAAAGGCCTGGCACTGCCTTAACCTGCTTCATTTTTTCTCCACAGTGTTTATGAACACCTGGCCTGCTGTATGTTTGTTTATTTATTATCTGTCTCATAGTACTAGAGTGTCAGCCTCATGAGGGCAGAGACTCTGTTTTGGTCACAGCTGAATCCTTAATGCTGAGAACAGTGCCTAGCACACTAGGCACCGTTAGGTTAGGTTTTAATAGGTGAATAAATGGTCTTACAATGTGCTATTTACACGCCTGTAATCTTCCATCTGTCTTCCCCACCCACCATAACATGAGCTCCCAGAGGGCAGGGATTGGGTCTTGTTACCATTGTCTAAGTCAGCACTTAACCTGGCACATCGATCCATATTTCCGAAGTAACTGATGGAAGAGGGAGGTCAGAGGAAGCTACTGCCAGACGTCACACAGCTCAACCTGTTCCCTGATAAATTTTCAAAAAGGGGATTCTGAGATATCACTGCCATGAAACAGAGAAGCACAGAGGAGCAGGAGTGTCCTGAGCGTGATCAGGATGAAGTTTTGCCTCAGACTCACCTCAGCTGTGCAGAATTCCCCTTTACCTGCCTGGCAAGGCATAGGAGAGGAAGTCACTCTTCCTGTCTGCCTGGCTGGGAAACGCATGAGCTGAAGGAAAGCCCAGGAACCAGGGCAGGGTATCACAGTAAGCTGAAAAATGAGGAGACCACAGAACTACGAACCTTAACCTTGACAGCCACAACTCTGAGGAAACCGACCCAGAACATAACAGACTCACCTGGCTTAGACACGAACCTCTAGGGGATAATTGAGAGGAAAAAAAAAGTGGCTGGAACTGCCATCACTATCCTAGAGATGGAAGGTTAGGCCAATGCTACAGCAAGGTAGCTGTGGTCAGACACTAAGAATGCTCCTTCTATCTGGCTGCCAGCCAATGGATCTCCATTCTGGACCAGCCCACGAGAAGCAAACCTCAAAGGAAACTAATCTGAGGTCTTAGCTCAATCTGTGGGGAACGGCATTAAAGCCTCTCCCTCTGAGTGACCTCTGCTAGCTTCTCTACCTCCTGCTTCCTCATCTGCTTCTGCTACACACCCGCACACTGAAAACCCTGTATATTGTATGAGTCCTCCCTGAACCCCACATCAGTCCTGAGGTGCAATTCTGCCTAGTCATCTTTCCTCTTCCCTCAACAGCAGCTTACTTTATGTTCTTCAAGCTTCACTGAGGCCTCTTTTGCAAATCCTCCCAGATCTCCTCAGCTGGGATGGGGCCCCTCTAGGCTTCCTGAGCCCCATGCTTCCTCCCTTCATGGCATCTGTCATAATGCAGTGGGATTGCCATGTAACTCCCTTGACTGTCTCCCCAACACAGAGCTGTACACTTCACATCTGGGCAGGGTCACCATGACTGTGTCCACCATTGCCAGCTTGGAACCTGGCATACTGGCATCAGTAAATGTTTGCTGAAAGAATAAATGATAACAAGCTGTCCTGCCCACCGTGACCTTTGGGAGAATGGGCATATGCTTTTGATTACCTGCAGGGCCATCAAGGTGTTGGCCAGGGCTTGACCATAGGTGTCATGGCAGTGGACAGCCAGGGCAGCCAGAGGCACTTCCTGCATGACAGCAGATAGCATGTCTTTCATGATCCCTGGGGTGCCCACACCAATGGTGTCCCCCAGGGAGATCTCGTAGCAGCCCATTGAGTAGAACTTCTTGGTGACCTAAGGAAGCAAGCAGGCACTTGGAGGATACAGAATCCACCAGCCAGGGGATCCATGCACTCAGAAGAGGGGGCCTTTGCCTGGGCAGAACACTTCTGGGTATGACGCACTCAGTTCCTACTGGATTACATGCTCCTCACCACTCCAACTGGGAATGATGATCCTCAATCTATGATCAGGAGACTGAGGCGTAAGGGGCAGAGCCAGCCGCTGGAGCCAGCCCACAGTCCTGAAGCTCCAACCCCCGTGCTTTCCTCCCTACCTGTGCCCCTCAGACTTCAGTCTCACTTACGGCTGTCACATCATACTGTCAGACCCAGGTGCTGGAATCAGTGAAGTTGATTCCTTCCATGTCGTTTTATCCTCAGCAATAAAATCCATGAAATCATGGGTCTGAGATGCTAGTTATATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAA
|
TACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTCACTCCCTCGCTTCCCTCAGGTCTCTCTCAAATGCTACCTTCTGAGTGAGGCCACTCTACAGAAAGGCCTGGCACTGCCTTAACCTGCTTCATTTTTTCTCCACAGTGTTTATGAACACCTGGCCTGCTGTATGTTTGTTTATTTATTATCTGTCTCATAGTACTAGAGTGTCAGCCTCATGAGGGCAGAGACTCTGTTTTGGTCACAGCTGAATCCTTAATGCTGAGAACAGTGCCTAGCACACTAGGCACCGTTAGGTTAGGTTTTAATAGGTGAATAAATGGTCTTACAATGTGCTATTTACACGCCTGTAATCTTCCATCTGTCTTCCCCACCCACCATAACATGAGCTCCCAGAGGGCAGGGATTGGGTCTTGTTACCATTGTCTAAGTCAGCACTTAACCTGGCACATCGATCCATATTTCCGAAGTAACTGATGGAAGAGGGAGGTCAGAGGAAGCTACTGCCAGACGTCACACAGCTCAACCTGTTCCCTGATAAATTTTCAAAAAGGGGATTCTGAGATATCACTGCCATGAAACAGAGAAGCACAGAGGAGCAGGAGTGTCCTGAGCGTGATCAGGATGAAGTTTTGCCTCAGACTCACCTCAGCTGTGCAGAATTCCCCTTTACCTGCCTGGCAAGGCATAGGAGAGGAAGTCACTCTTCCTGTCTGCCTGGCTGGGAAACGCATGAGCTGAAGGAAAGCCCAGGAACCAGGGCAGGGTATCACAGTAAGCTGAAAAATGAGGAGACCACAGAACTACGAACCTTAACCTTGACAGCCACAACTCTGAGGAAACCGACCCAGAACATAACAGACTCACCTGGCTTAGACACGAACCTCTAGGGGATAATTGAGAGGAAAAAAAAAGTGGCTGGAACTGCCATCACTATCCTAGAGATGGAAGGTTAGGCCAATGCTACAGCAAGGTAGCTGTGGTCAGACACTAAGAATGCTCCTTCTATCTGGCTGCCAGCCAATGGATCTCCATTCTGGACCAGCCCACGAGAAGCAAACCTCAAAGGAAACTAATCTGAGGTCTTAGCTCAATCTGTGGGGAACGGCATTAAAGCCTCTCCCTCTGAGTGACCTCTGCTAGCTTCTCTACCTCCTGCTTCCTCATCTGCTTCTGCTACACACCCGCACACTGAAAACCCTGTATATTGTATGAGTCCTCCCTGAACCCCACATCAGTCCTGAGGTGCAATTCTGCCTAGTCATCTTTCCTCTTCCCTCAACAGCAGCTTACTTTATGTTCTTCAAGCTTCACTGAGGCCTCTTTTGCAAATCCTCCCAGATCTCCTCAGCTGGGATGGGGCCCCTCTAGGCTTCCTGAGCCCCATGCTTCCTCCCTTCATGGCATCTGTCATAATGCAGTGGGATTGCCATGTAACTCCCTTGACTGTCTCCCCAACACAGAGCTGTACACTTCACATCTGGGCAGGGTCACCATGACTGTGTCCACCATTGCCAGCTTGGAACCTGGCATACTGGCATCAGTAAATGTTTGCTGAAAGAATAAATGATAACAAGCTGTCCTGCCCACCGTGACCTTTGGGAGAATGGGCATATGCTTTTGATTACCTGCAGGGCCATCAAGGTGTTGGCCAGGGCTTGACCATAGGTGTCATGGCAGTGGACAGCCAGGGCAGCCAGAGGCACTTCCTGCATGACAGCAGATAGCATGTCTTTCATGATCCCTGGGGTGCCCACACCAATGGTGTCCCCAGGGAGATCTCGTAGCAGCCCATTGAGTAGAACTTCTTGGTGACCTAAGGAAGCAAGCAGGCACTTGGAGGATACAGAATCCACCAGCCAGGGGATCCATGCACTCAGAAGAGGGGGCCTTTGCCTGGGCAGAACACTTCTGGGTATGACGCACTCAGTTCCTACTGGATTACATGCTCCTCACCACTCCAACTGGGAATGATGATCCTCAATCTATGATCAGGAGACTGAGGCGTAAGGGGCAGAGCCAGCCGCTGGAGCCAGCCCACAGTCCTGAAGCTCCAACCCCCGTGCTTTCCTCCCTACCTGTGCCCCTCAGACTTCAGTCTCACTTACGGCTGTCACATCATACTGTCAGACCCAGGTGCTGGAATCAGTGAAGTTGATTCCTTCCATGTCGTTTTATCCTCAGCAATAAAATCCATGAAATCATGGGTCTGAGATGCTAGTTATATTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAAN
|
pathogenic
| 5,544 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 23810790, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): what disease(s) if pathogenic?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'Inborn_genetic_diseases', 'Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency']
|
CTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAAGTTCTTGGGCTGGTCAAACTCAATTCCCATGCCATGTTCTTCTCAGTGTTGACCTGGTGACTGTTCAGAGGACATCAGGGTTGTGGCCTTTCAATCACTACAAGGAACTATGGGAACTCCTGGGTAAGGAGCCCCTCCTCAGAGAATCACCTCAACGACCAGACTGGAAACTGAATTGGAGGTTTTCAGGCTGGATAGAGGCCAGGGGCTTCAAGGACTACATGTTCGGCTAGGAGGGGGGCCTCTAGGGAGCAAGTGCAGGGCTGTGCTCACAGCAGGAGCTTAATGAAGGAGCTGGGTGAATGAATGAAGTCAGGAACCTGCCAGAAAGGGTGGGGAGAGGAACCTATGCGCTCAGGGGCAGACAAGGTGGCCAACCCTCACCAAACCCCCCGCCCTGACACATGCACACACCTCAGCTACTTTAGCTGGGGAGATCTTCCCTTCATAAGGGCAGCCAAGAGCACAGGAGACGTACCTGTGGGAAGACAGGGGAGGAATGAGGTCAGTGTCCTGAGCTTTTTGGCTAGCAGAACTGAGGCAGGGCTGTTTAACACACATTTCTGATCAGTGTGCAATCAACACCTGCAGCTGGGCGGAGTAAGGGCAGGGATGGTACAATTCAGTGCCAGGAGGAGGCAGTAGAGAGCAATGGCAGGGAACTGGGGGACAATGGACCTACAATTGAGGAAGCAGAAGTTGCACAGGCCTCAGGAGAGGCAGCCAAGGATTTACAATAAGCGGAGGAGGAGCTAGAGAGGGCAAGGAGAGTAAGCAGCTGGGTTGTAAGGTGGGGAGATGGAGCAAAACTACGTGCCAGAGGAGCTGGGGCCAGTACTCCAAAAGGAGACCAAAGACTGGGTAAAACCAAACTCAGAACAAGAGCTGAGTTGGATATGAGTCAGTAACAGGCTGGGCTGGCCTGAGGACCAAGGGATGAGCTGCCCCAGTGAGATGCTAGAGGATTCATTCATTCATTTATTCACCTGATGTTTACTGAGTTGCCTGCTATGTGCCAGGCACTGGCACAGAGCAGTGGGCAAGACTGATAAGGTTCCTGCCCTCTCAGAGCTTATCTCAAGTTAGGGAGATGGCCAATAAAAAAGCAACCAAGTAAGTAATGGAGAAAATCTCAGAAGTGATGTGCCACAGAGGAAAGATGGGAAATGATAGGAACAAGTGGAGGAGGCCAACTAGTGAGGGTCCAGGAAAGATCCCTCTGAGGACAGGATGCTGGAGCCGAGAGGAGCCGGGGGTGGTCTGTGAGAAGAGCATTCCAGGCAGAGGGAAGACCTGGGCAAAGCCCTGAGACAGAAGAGCCAGGCATGCTCCAGACAGAACAAAGGACAGCTGAGGCAGACAGAGCAAGGGGAAAGGAAGTATGAGATGAGGAGGTCAGCAAGGTGGGCACAGGTCTGATCATGGGTCTTAGGGCTATGGTAAGGAGGGTGGATTTGGGATGTAGGTGACTTCTATTCCCACCTGCCCTTTTGGGAGCTGTCTTTAAAACCCTTTAGAGTCAAGCAAATTCTGCATATTAAGAGGCATAATAAATGTTCAACAGATAAATAATTTCAGACTCAAAGATCTCAGTGTACTTTTCCATTTTGATGCTCCCACTTATTCTCCAACCACTGCTGAGCAAGAAAAAGGTAAGAGAGATGCTTAGAAAGACACAGATCTGGGAGTTGGGCCAATGTTACTGGAGCACCTGCTTCCCCATTCATCCACCTGCCCGTCAGTGACTGAGTGCCCACTGTGGCTAGGCCCCAAGCTGGGAGAGTGGAGCACCCCAGGGACTGGGAGAGATGTGGGCTTTGCCCTCATGGAGTGCACGGTCTAGTGGGGTGGGGCAGGGAGGGAATTTAACAAGCAGCTAAGTGCTACATTTAGAGGATGTCCCGACACCATGGGGTCCCAGAGAAGGGCACTAACTCCAGCTGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACT
|
CTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCACGCCCCACTATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACATGCTTCGGCCTCCCGAAGTGCTGGGATTACAGTCATGAGCCACCATACCCGGCCAATCAATAGTCCATATATATATATATATATATATTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCCACCACCACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATAGTTATATTTTTTAATAGAGGTACATCACTATTTAAATTTTTGGAAGCCCATTTGCACATCTCTAAAACCACTGCAAAATGGGTCCATATTGGAATAGGTCCAATATGGGTCCAATTGGAATAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGAACTTAAAAAAAGATGGCCTCACCCAAGGAGCTGCTGCCCACACGGGGCTGCTGGACAAGGTGCAGAGGGATGTGGCAGGGAAAGGGGACCAGAAGACACCAGTGATCTGCTAAATAAATGAAATGGTGACGTCGCTTCCCCAGTGGCCCTGCAGAGTGTGGGGCGGCAGTGGCTGGCCTTTAGGGGGCAGCAGGGTGCAGGGGAAGGAGCAGGCCTTTGAAGTCACGAGATGCTGGGTTAAAGTCCTAGTTCTGCTGTTCACTAGCTGTGGGCCTTGGCAAGCAACTTCACTTTTCTGAGCTTCAATTTCTGCTTCTGAAAAATGGTGATGACCCTTTGGTCATACGGCAAGGATTGTGGCAACTGAGGCTAAGACCTGGAGCAGGGCAGCTGCTCTCAAGAAACAGTTGCTACTGTTACCATTCCACCTATCTGGATGCCACAAAGTATCCTGGGAAGAAGTGGGCTTTGGAGAGAGAAAAAATGGGGTTTGATACCTGATTTCACCATTTGTAACCTGTGTGGCAAGTTATTTAGTGTCAGTTTTCTCAACTGTAAAAGGGAATAATAATACCAAATTTGCACAGTGGTTTTGAGGACTAAATGACATAAGTTCTTGGGCTGGTCAAACTCAATTCCCATGCCATGTTCTTCTCAGTGTTGACCTGGTGACTGTTCAGAGGACATCAGGGTTGTGGCCTTTCAATCACTACAAGGAACTATGGGAACTCCTGGGTAAGGAGCCCCTCCTCAGAGAATCACCTCAACGACCAGACTGGAAACTGAATTGGAGGTTTTCAGGCTGGATAGAGGCCAGGGGCTTCAAGGACTACATGTTCGGCTAGGAGGGGGGCCTCTAGGGAGCAAGTGCAGGGCTGTGCTCACAGCAGGAGCTTAATGAAGGAGCTGGGTGAATGAATGAAGTCAGGAACCTGCCAGAAAGGGTGGGGAGAGGAACCTATGCGCTCAGGGGCAGACAAGGTGGCCAACCCTCACCAAACCCCCCGCCCTGACACATGCACACACCTCAGCTACTTTAGCTGGGGAGATCTTCCCTTCATAAGGGCAGCCAAGAGCACAGGACGTACCTGTGGGAAGACAGGGGAGGAATGAGGTCAGTGTCCTGAGCTTTTTGGCTAGCAGAACTGAGGCAGGGCTGTTTAACACACATTTCTGATCAGTGTGCAATCAACACCTGCAGCTGGGCGGAGTAAGGGCAGGGATGGTACAATTCAGTGCCAGGAGGAGGCAGTAGAGAGCAATGGCAGGGAACTGGGGGACAATGGACCTACAATTGAGGAAGCAGAAGTTGCACAGGCCTCAGGAGAGGCAGCCAAGGATTTACAATAAGCGGAGGAGGAGCTAGAGAGGGCAAGGAGAGTAAGCAGCTGGGTTGTAAGGTGGGGAGATGGAGCAAAACTACGTGCCAGAGGAGCTGGGGCCAGTACTCCAAAAGGAGACCAAAGACTGGGTAAAACCAAACTCAGAACAAGAGCTGAGTTGGATATGAGTCAGTAACAGGCTGGGCTGGCCTGAGGACCAAGGGATGAGCTGCCCCAGTGAGATGCTAGAGGATTCATTCATTCATTTATTCACCTGATGTTTACTGAGTTGCCTGCTATGTGCCAGGCACTGGCACAGAGCAGTGGGCAAGACTGATAAGGTTCCTGCCCTCTCAGAGCTTATCTCAAGTTAGGGAGATGGCCAATAAAAAAGCAACCAAGTAAGTAATGGAGAAAATCTCAGAAGTGATGTGCCACAGAGGAAAGATGGGAAATGATAGGAACAAGTGGAGGAGGCCAACTAGTGAGGGTCCAGGAAAGATCCCTCTGAGGACAGGATGCTGGAGCCGAGAGGAGCCGGGGGTGGTCTGTGAGAAGAGCATTCCAGGCAGAGGGAAGACCTGGGCAAAGCCCTGAGACAGAAGAGCCAGGCATGCTCCAGACAGAACAAAGGACAGCTGAGGCAGACAGAGCAAGGGGAAAGGAAGTATGAGATGAGGAGGTCAGCAAGGTGGGCACAGGTCTGATCATGGGTCTTAGGGCTATGGTAAGGAGGGTGGATTTGGGATGTAGGTGACTTCTATTCCCACCTGCCCTTTTGGGAGCTGTCTTTAAAACCCTTTAGAGTCAAGCAAATTCTGCATATTAAGAGGCATAATAAATGTTCAACAGATAAATAATTTCAGACTCAAAGATCTCAGTGTACTTTTCCATTTTGATGCTCCCACTTATTCTCCAACCACTGCTGAGCAAGAAAAAGGTAAGAGAGATGCTTAGAAAGACACAGATCTGGGAGTTGGGCCAATGTTACTGGAGCACCTGCTTCCCCATTCATCCACCTGCCCGTCAGTGACTGAGTGCCCACTGTGGCTAGGCCCCAAGCTGGGAGAGTGGAGCACCCCAGGGACTGGGAGAGATGTGGGCTTTGCCCTCATGGAGTGCACGGTCTAGTGGGGTGGGGCAGGGAGGGAATTTAACAAGCAGCTAAGTGCTACATTTAGAGGATGTCCCGACACCATGGGGTCCCAGAGAAGGGCACTAACTCCAGCTGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTNN
|
pathogenic
| 5,553 |
Determine if the mutation at chromosome 1, position 23814311 in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']
|
TGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTGAAAGCTTTTTAACCAGGAGGGATGTGATCAGATGTGCACTTTTGTGGGGTTTTTTTGGTTTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTTTCAAACTCCTTACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGTTCAGCCCAGATGTGCACTTTTCAACGATCATTCTGGCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCCGGAGTACAGTGGTGTGATCTCGGCTCACCACAACCTCCGCCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGATGGAATTACAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTATCCACTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCTGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTGGCTGCAATTTGCACAGCAGTGTGACCTTACAGTAGAGTATTCGCCCTTCCTGGGCCTCGGTTTTGTAATTTATAAAGTGAGGATAACCTACTCCCTGCTGGGCTATTGTGAGGTTTCAATTATTATAGATAATACACACACAATGCCTGGAACCACTGATATTAGAGATGTGATGTTGGAAACATAGAAGCCTAGGTAATTCTCCAGGGATGTGTGAAGAGCTAGTGATAAAGCCAGGACTCAACTGACCTCCACAAACCCGTTAGTGTCCTGTCCTGCTAGATTCCTTTAGCATGATAGCAGTGGTGCTATCATGGCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCCATCCTCTGCCTCAGTCTCCCAAGTTGCTAGGACTACAGGCGCATGCTATCATGGCTAGCTGGTAAACTGACCCAAAATTCAGGTTTGAGAGAAAGTACTTCCTAGGATTTCTTCTGACCACACTTATTTGGGAAAAGATGTCTAGGTGTGGAGCTCAGGCTGCCCCCACCCAGGATAAGAAGTTTGTGGCAGGAGGACCACTTGAGTCAGAGTCTAGCCCCATTCCAGAACGGTACAGAGGAAAGGATACCAATGTGCTCTGACTCACCCCCGCACAGAAATATTGGCTGACTGCGCTGCCTTCAGGATTGCGTCAAACCTCTGAAAACTCTCCTCTATGGAACAATTGATGTTCTTCTTGGTGAAGAGCTCTGAGGCAGCTCCAAAGATGACTACTTCCTTGGCTCCAGCAGCAACCTGCCAACATCCAGGTGAACTCCTTTCAGCACTTTTCTCTTTTTTTGTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTCAGCCATCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGA
|
TGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTGAAAGCTTTTTAACCAGGAGGGATGTGATCAGATGTGCACTTTTGTGGGGTTTTTTTGGTTTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTTTCAAACTCCTTACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGTTCAGCCCAGATGTGCACTTTTCAACGATCATTCTGGCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCCGGAGTACAGTGGTGTGATCTCGGCTCACCACAACCTCCGCCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGATGGAATTACAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTATCCACTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCTGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTGGCTGCAATTTGCACAGCAGTGTGACCTTACAGTAGAGTATTCGCCCTTCCTGGGCCTCGGTTTTGTAATTTATAAAGTGAGGATAACCTACTCCCTGCTGGGCTATTGTGAGGTTTCAATTATTATAGATAATACACACACAATGCCTGGAACCACTGATATTAGAGATGTGATGTTGGAAACATAGAAGCCTAGGTAATTCTCCAGGGATGTGTGAAGAGCTAGTGATAAAGCCAGGACTCAACTGACCTCCACAAACCCGTTAGTGTCCTGTCCTGCTAGATTCCTTTAGCATGATAGCAGTGGTGCTATCATGGCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCCATCCTCTGCCTCAGTCTCCCAAGTTGCTAGGACTACAGGCGCATGCTATCATGGCTAGCTGGTAAACTGACCCAAAATTCAGGTTTGAGAGAAAGTACTTCCTAGGATTTCTTCTGACCACACTTATTTGGGAAAAGATGTCTAGGTGTGGAGCTCAGGCTGCCCCCACCCAGGATAAGAAGTTTGTGGCAGGAGGACCACTTGAGTCAGAGTCTAGCCCCATTCCAGAACGGTACAGAGGAAAGGATACCAATGTGCTCTGACTCACCCCCGCACAGAAATATTGGCTGACTGCGCTGCCTTCAGGATTGCGTCAAACCTCTGAAAACTCTCCTCTATGGAACAATTGATGTTCTTCTTGGTGAAGAGCTCTGAGGCAGCTCCAAAGATCTACTTCCTTGGCTCCAGCAGCAACCTGCCAACATCCAGGTGAACTCCTTTCAGCACTTTTCTCTTTTTTTGTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTCAGCCATCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGANN
|
pathogenic
| 5,560 |
Considering the variant on chromosome 1, location 23814325, involving gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
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pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']
|
AGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTGAAAGCTTTTTAACCAGGAGGGATGTGATCAGATGTGCACTTTTGTGGGGTTTTTTTGGTTTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTTTCAAACTCCTTACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGTTCAGCCCAGATGTGCACTTTTCAACGATCATTCTGGCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCCGGAGTACAGTGGTGTGATCTCGGCTCACCACAACCTCCGCCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGATGGAATTACAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTATCCACTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCTGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTGGCTGCAATTTGCACAGCAGTGTGACCTTACAGTAGAGTATTCGCCCTTCCTGGGCCTCGGTTTTGTAATTTATAAAGTGAGGATAACCTACTCCCTGCTGGGCTATTGTGAGGTTTCAATTATTATAGATAATACACACACAATGCCTGGAACCACTGATATTAGAGATGTGATGTTGGAAACATAGAAGCCTAGGTAATTCTCCAGGGATGTGTGAAGAGCTAGTGATAAAGCCAGGACTCAACTGACCTCCACAAACCCGTTAGTGTCCTGTCCTGCTAGATTCCTTTAGCATGATAGCAGTGGTGCTATCATGGCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCCATCCTCTGCCTCAGTCTCCCAAGTTGCTAGGACTACAGGCGCATGCTATCATGGCTAGCTGGTAAACTGACCCAAAATTCAGGTTTGAGAGAAAGTACTTCCTAGGATTTCTTCTGACCACACTTATTTGGGAAAAGATGTCTAGGTGTGGAGCTCAGGCTGCCCCCACCCAGGATAAGAAGTTTGTGGCAGGAGGACCACTTGAGTCAGAGTCTAGCCCCATTCCAGAACGGTACAGAGGAAAGGATACCAATGTGCTCTGACTCACCCCCGCACAGAAATATTGGCTGACTGCGCTGCCTTCAGGATTGCGTCAAACCTCTGAAAACTCTCCTCTATGGAACAATTGATGTTCTTCTTGGTGAAGAGCTCTGAGGCAGCTCCAAAGATGACTACTTCCTTGGCTCCAGCAGCAACCTGCCAACATCCAGGTGAACTCCTTTCAGCACTTTTCTCTTTTTTTGTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTCAGCCATCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAA
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AGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACCTGCCCACCTTGGCCTCCCAAGGAAGGTTGTTCTGAGTCTAGAGAGAGCACGTGCAAAGGCCCAGAGGCAAGAGTGGAGGCATGTGACAAACAGAAAGAAGTTCCAGTTGGGCTGGAGTGTACCATGAAGAGGAAGCAGGGGCCAGAAGGGAACTTGAACGGTACGGCTACAGAAAAGAGCCGGGACCAAATCATGCAGGGTTTGTAAACCTCATTAAAAAGTCTGCACTTGATTAGTCACTGAAAGCTTTTTAACCAGGAGGGATGTGATCAGATGTGCACTTTTGTGGGGTTTTTTTGGTTTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACTACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTTTCAAACTCCTTACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGTTCAGCCCAGATGTGCACTTTTCAACGATCATTCTGGCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCCGGAGTACAGTGGTGTGATCTCGGCTCACCACAACCTCCGCCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGATGGAATTACAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTATCCACTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCTGCCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTGGCTGCAATTTGCACAGCAGTGTGACCTTACAGTAGAGTATTCGCCCTTCCTGGGCCTCGGTTTTGTAATTTATAAAGTGAGGATAACCTACTCCCTGCTGGGCTATTGTGAGGTTTCAATTATTATAGATAATACACACACAATGCCTGGAACCACTGATATTAGAGATGTGATGTTGGAAACATAGAAGCCTAGGTAATTCTCCAGGGATGTGTGAAGAGCTAGTGATAAAGCCAGGACTCAACTGACCTCCACAAACCCGTTAGTGTCCTGTCCTGCTAGATTCCTTTAGCATGATAGCAGTGGTGCTATCATGGCTCACTGCAGCCTCAAACTCCTGGTCTCAAGCCATCCTCTGCCTCAGTCTCCCAAGTTGCTAGGACTACAGGCGCATGCTATCATGGCTAGCTGGTAAACTGACCCAAAATTCAGGTTTGAGAGAAAGTACTTCCTAGGATTTCTTCTGACCACACTTATTTGGGAAAAGATGTCTAGGTGTGGAGCTCAGGCTGCCCCCACCCAGGATAAGAAGTTTGTGGCAGGAGGACCACTTGAGTCAGAGTCTAGCCCCATTCCAGAACGGTACAGAGGAAAGGATACCAATGTGCTCTGACTCACCCCCGCACAGAAATATTGGCTGACTGCGCTGCCTTCAGGATTGCGTCAAACCTCTGAAAACTCTCCTCTATGGAACAATTGATGTTCTTCTTGGTGAAGAGCTCTGAGGCAGCTCCAAAGATGACTACTTCCTTGGCTGCCAACATCCAGGTGAACTCCTTTCAGCACTTTTCTCTTTTTTTGTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTCAGCCATCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAANNNNNNNNNNNNN
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pathogenic
| 5,562 |
Evaluate if the mutation on chromosome 1 at position 23816705 in HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency']
|
TCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGG
|
TCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTC
|
pathogenic
| 5,564 |
Variant in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase), located at chromosome 1 position 23816736: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']
|
AACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGT
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AACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGTCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAACAAAAACAAAAGATGGCCAAGTGAAGACACAGAGACACAGAAAAGGTGGCCCTGGGAAAACGGAGGCAAAGACTGGAGAGATGCATCTACAAGCCAGGCAATGCCAAGGACTGCTGGCCACCACCAGACCCCAGCAGAGAGGCATAGGACAGATTCTCCCAGAGGCCTCAGAAGGAACCAATCCTGCTGACACCTTGATTTGGGACTTCTGGCCTCCAGACTGTGAGAGAATAAATTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTN
|
pathogenic
| 5,565 |
Assess the variant on chromosome 1, position 23817497, impacting HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']
|
TTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCCAGTATTACAGGCATGAGCCATCATGCCCAGCCTGTCAAATAATTTTTGAAAGCCCTCCATGTTGCAGGCATTGTGCTAGGTGCCGGGGATATAGCAGTAAGCAGAAGCAGAACAGACAGGATTCTGCCCTTCGGGAACTTACACACTATTGTTTCCAACAAGCACTCACTATTAAAGCTAGGATGGACGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAGCTTTTCTTATTGAAAAAATAATCAATATATGATTCTTTCAGAAAAACATGCCAAAAACAAAAGAAAACCACCCTTAGAATCTCCCAGTGATAACGCTATTAACACCCTGGTGTGTAACTTTCTAGATCTGTGCAGCCCAATATGTCACTAGTCACATGTGGTTATTTAAATTTAATAAAAATTGTATAAAAATAAAAATACAATTCCTTGGCCACACTAGTCACATCTCAAGTTCTCAAGGGCCACATGGGTATAGTGGCCACCACATGGAAAAGCTCAGGTCCAGAATATTTCCATCTTCACAGAAAGTGCTGGTCTAGGTCCTAGTCTAGATAAATGCTCCCATACATATATAAACTTTTTTCTTACATAAAAGTGTTAAGATTAAAAAATACATGGCCAGGCGCATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCCGGCCAAC
|
TTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACCAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCCAGTATTACAGGCATGAGCCATCATGCCCAGCCTGTCAAATAATTTTTGAAAGCCCTCCATGTTGCAGGCATTGTGCTAGGTGCCGGGGATATAGCAGTAAGCAGAAGCAGAACAGACAGGATTCTGCCCTTCGGGAACTTACACACTATTGTTTCCAACAAGCACTCACTATTAAAGCTAGGATGGACGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAGCTTTTCTTATTGAAAAAATAATCAATATATGATTCTTTCAGAAAAACATGCCAAAAACAAAAGAAAACCACCCTTAGAATCTCCCAGTGATAACGCTATTAACACCCTGGTGTGTAACTTTCTAGATCTGTGCAGCCCAATATGTCACTAGTCACATGTGGTTATTTAAATTTAATAAAAATTGTATAAAAATAAAAATACAATTCCTTGGCCACACTAGTCACATCTCAAGTTCTCAAGGGCCACATGGGTATAGTGGCCACCACATGGAAAAGCTCAGGTCCAGAATATTTCCATCTTCACAGAAAGTGCTGGTCTAGGTCCTAGTCTAGATAAATGCTCCCATACATATATAAACTTTTTTCTTACATAAAAGTGTTAAGATTAAAAAATACATGGCCAGGCGCATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCCGGCCAACN
|
pathogenic
| 5,569 |
Variant at chromosome position 23817520, chromosome 1, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase']
|
AATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCCAGTATTACAGGCATGAGCCATCATGCCCAGCCTGTCAAATAATTTTTGAAAGCCCTCCATGTTGCAGGCATTGTGCTAGGTGCCGGGGATATAGCAGTAAGCAGAAGCAGAACAGACAGGATTCTGCCCTTCGGGAACTTACACACTATTGTTTCCAACAAGCACTCACTATTAAAGCTAGGATGGACGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAGCTTTTCTTATTGAAAAAATAATCAATATATGATTCTTTCAGAAAAACATGCCAAAAACAAAAGAAAACCACCCTTAGAATCTCCCAGTGATAACGCTATTAACACCCTGGTGTGTAACTTTCTAGATCTGTGCAGCCCAATATGTCACTAGTCACATGTGGTTATTTAAATTTAATAAAAATTGTATAAAAATAAAAATACAATTCCTTGGCCACACTAGTCACATCTCAAGTTCTCAAGGGCCACATGGGTATAGTGGCCACCACATGGAAAAGCTCAGGTCCAGAATATTTCCATCTTCACAGAAAGTGCTGGTCTAGGTCCTAGTCTAGATAAATGCTCCCATACATATATAAACTTTTTTCTTACATAAAAGTGTTAAGATTAAAAAATACATGGCCAGGCGCATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCCGGCCAACCTGGTGAAACCCCATCTCTACTA
|
AATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAGTGCTTTCTTACAGTAGCACTAGGAAACAAACACAGTAATTTCTCTTAATTAAAAAAAAAAAAACTTTGATTTTCCCCAAGGAAACCACCACCACTGCCATCACCACCCTGGAAGTCACTCTTGAGAAAAAGCTTTTTTTTTTTTCTTGCTGTGTCACCCAGGCTGGAAGAGTGCAGCGGTATTATCATGGCTCACTGCAGCCTCGAACTCCTAGTCTCAAGCCATCCTGTGCCTCAGTCTCCCGAGTAGCTAGGACTACAGGTGCATGCCATCACAGCCAGCTAATTGATTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCCTTATGTTGCTCAGGCTGGTCTCAAGCTTCTGGCCTCAAGCTGTTCTCCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCCAAAAAAAGGTTTTTGCCTAAATACAGAACCAACGCCTCCAAAGATGTTCTTGTCTAAAATTGTAAGAAAGTTGGCAGATGCCAGCAACTACTGTTGAAACTCTTGTGGAGAGTTTGGTTACATTTCTCTAAAGAAGTGGATAATCAAAAGAGCTAACATTTATTAAGCAGTTACCTTTTATCTGGCTCTTGCTAAGCAATGTACATGCATCCTATCTTCTGAAATGCTCACAACTTCAGGTACTATCATTTAGCCCTATTTTATAGGCTTGTCAACTTGTCAAGATCACAGAGCAGTGAGTGGCAGGGCCAGGTTTGCCCCAGGGTCTGGCTGACAGACAAGCTATTCAGATGGACATCCCAGGACAGGGGACTGAGGCGCCAAGACAAGGCAGGGACCAATGCCATCAATCTCATTTCAGGAGCCCCCACCAACAAGCTATCCTCTTACCGCTGCCTCGAAGCCTTTCAAATTTGGGGTCAGGACTGGGTAGTTGATGCCAGGAAACTTCTGAATGCCCTTCAAGACTTCAGTGTGGTCACCCATCTAGGAACCAAGGGAGACATTGCCAAGTCATCACCAAGAGCAGACAGAGAGTTCAGTTAGAGAAAACCTTTTCATCACAAAACCTCTGTTCTCCAGAACTCTTAGCGAGTAATTCCTTCTGCAGAGCTGAGTCTCTCCAATACTTTTACTGTTTGTTTGACTGCTGATGGCTCAGAAGGGCCCTTGGTTTGGCTGAGATCCCAATTTCTCCATATGGCCCATACTGCCAGCTTTACATATGCAGAAACAGCAGGAATACTACTACCAGCCATTTATTGAGAATGTACTCTGGGCCAGGCACTGAGCTCAGCTCTGTGTTAAGCACTCCTTTGTAACAGGATGTTTCTTCTTCACTTAACTATCTTTGTGAAGCAGGAGTTGTCAGTCTTCCTCTTTTACAAACAAAGAAACCACAGACAGGCATAGAGGGTTTTAGACTTTAGGGCTAGAAGAGGTCATCTCTAACACTGAGGAGGGGAAGGCCTTAGCAATGTCACTGAGCAAGTCAGAGCAGAGCCAAGACTGAACCCAAGGCCCTGAATCCTGGGTCATGTTCTTTTGCTGCAACACAGTGCTATGAATCACCTGAGACCTCTCAAAGCCAGGGGCTTGGAAACCTATGTTCTCAACTTCTACTTGCTTCAAAGGCAAATGCAAAACTTTTCATCCCTAGAGAAAGGCCTTTCATTGAGGGCTAGGGCTCACCTGGGGAACCCACTTAGGAGACACAAAGCTGGTGGTTTCTATAACAGAGTCCTGCTTCAGAAAGCATGTCTATCAGCTTGATTTTCACTGGAGTAGATACGATATTCTATAGTGGAGAGAGAAACACCAAGGCAGCAAAGTTAGTAACAAAACAGCCTCAAAATGCAGTACCTGTTAGTTCAAGTACTATAGATAATTTTTTGCAGTGGATGCAGCTTCTCACCTGAAAAGGAGTTATTTACATAGAAACATTATTCTGCCATGCAGGCTTTCCCGTAAGTAAATGTGTGTTAATTTATAATCCCATCATAAACAAACTGAGAGCAATGTGTGATGGCCTGAAAGGGCAGAGATGACTAACCCTCTGGGGAGTATGGGATGGGGCCCCCAAAGTATCACACCCTCCTCGCTTCTGTCTCCCAATTGGCATAGGACTTCAGCCTCATGTGTTCAGCGTATAGCTTCTTTATCTTCCTCCCCACCATGTCCAGTAGCTCAACAGATTCCATGGATTCCTCTTTCCAAATCTACCATCATTATCCTGTATATAACATGGCATAGTCTCAAGCCACTAATTCATCTTACACAGGAATCCTCCTAAAATGCAGCTTCCAACCTTCCATTCTCTTGCATCAAAAGCTTTCTATGGCTCCCTAATATTTACAGGATTACGCAAAAAATTCTAAGAACTCCAGGTCCAGGCGGACACATTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCATTTAAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAACCCCCTCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGTCTGTGATCCAGCTACTCAGGAGGCTGAGGTGGATCACTGGAGCCTGGGAAGTCGAGGCTGCAGTGAGCAATGATTGTGCCACTGCACTGAGTGACACAGAGCAAGACCCTGTCTCAAACAAAAAGAACACACAAAAATACTCCAGGTCCTTCTCGCTAGGTCCTCCCCTTGCCTGCCTTCTCCAGTTTCTCTCCCACTGCTCTAACTTAATCTTTCCACAAAATTTTTTTTTTTTTGAGATGGAGTCTCACTGTATTGCCCAGAGTGGAGTGCAGTGGCACAATCTCAGCTCACTGCGACCTCCGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGATGGGATTACACAAGCATGCCACCACCCCAGCTCATTTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCCAGTATTACAGGCATGAGCCATCATGCCCAGCCTGTCAAATAATTTTTGAAAGCCCTCCATGTTGCAGGCATTGTGCTAGGTGCCGGGGATATAGCAGTAAGCAGAAGCAGAACAGACAGGATTCTGCCCTTCGGGAACTTACACACTATTGTTTCCAACAAGCACTCACTATTAAAGCTAGGATGGACGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAGCTTTTCTTATTGAAAAAATAATCAATATATGATTCTTTCAGAAAAACATGCCAAAAACAAAAGAAAACCACCCTTAGAATCTCCCAGTGATAACGCTATTAACACCCTGGTGTGTAACTTTCTAGATCTGTGCAGCCCAATATGTCACTAGTCACATGTGGTTATTTAAATTTAATAAAAATTGTATAAAAATAAAAATACAATTCCTTGGCCACACTAGTCACATCTCAAGTTCTCAAGGGCCACATGGGTATAGTGGCCACCACATGGAAAAGCTCAGGTCCAGAATATTTCCATCTTCACAGAAAGTGCTGGTCTAGGTCCTAGTCTAGATAAATGCTCCCATACATATATAAACTTTTTTCTTACATAAAAGTGTTAAGATTAAAAAATACATGGCCAGGCGCATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCCGGCCAACCTGGTGAAACCCCATCTCTACTANN
|
pathogenic
| 5,571 |
For chromosome 1, position 23825388, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency']
|
ATTTACATATTTATTTATTTATTTATTTATTTGAGATACAGTCTCATTCTGTCTCCAGGCTGGAGAGCAGTGGCGCGATCTTGGCTCACTGCAACCTTCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGATTTCACCAGGTTGGCCAGGCTGGTCCCGAACTCCCGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACCACGCCTGGTGAGCCATTTACATATTAACCCATACTGTCCTCTCAACAATCTTATCAGGTAGGAACTATCATCATCCCCATTTTACTGTAAGAAATCTAAGGCCCCACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACTCCAGTCTGGGTGACAGATGACAGAGCAAGACACCGTCTCAGGAAAAAAAAAAAGAAAGAAAAGAAAAGAAATCTGAGACCCAAAGAGATTAAGTAATCTTCCCGAGGTGACATGGGGAGTTACTCACTGAGGCAATATCTAAACCTGGCAGTGTGGCTCTAGAGCACAAGCTCCTAACCTCTGGGCCACTGTTGCCTCTTTACCACCGTTCGTTCGGTCCACAGTCTTCTCCTGGTTAAACATCCCGTTCCTCCTCTGTAAAGCTCTGCTCAGAGAGGGTCCCCCTAACCACACAAGTACTGTGCCACAGTGTCCTGAGGTATGGTGTACCTGCATCAACACCAACAGCGAATACTGACTAAACCCAGTGTTAAACTACAGGCCAGGGACTATTATTATCCCAACTCCGTAGGTGAAGAAACTAAGCCTCAGAAAGGTTACCCAAAAATCACAATTAGAAAGTGACAGAGCTTGGACTTGAACCCATATCTAGGCCTAATACTAATACTGGTTCCTATGCTTGGAACCCCATGGAGGGCCATCTCATTACACCAAATATTTCTTAAAAGCTTATTAATATCTACTATTGCGTTTAACTTTCCAAGTTGGAATTGCCATCTTCATTTTACACATGAGCAGGTGGTGCAGGTGAATGGCCAAGTAAAGATATTAACGTGGCTTTCTGAGAGGGACCCAGTGCCAGGAGTGTATTTTTCCCTCTATACAGTTATAACTCCTTCTCAACTCCCTAAGGTAAAAATACCACCACCGACTGATCACTTATTAGGAGCCAGAACACTGCCAGATGTGTTACTTACATTTTCTCTAATTTCCAAAACAACCCCAAGGGAATGTTGTCCGTTTTACAGACGAAAGAGCTGAGGTTTAGAGAAAGTAAATAACTATGTCATTAAGTCTAGAAAGTGGCAGAACTATTGGGACACCCTAGCTTCAGCTTTTATTTTTTCTGCTCCATACAGCTACGTCTCCCACACTTTTTCTGCGCTGAGAATGGGAGAGGGGAAAACATCAGGATCGAACAGGATCAAAGTGCAATTCCAAGGGAATCACAGCTTGGCTCCAATCAACGCAAGTCCCGCTCGGTAGGCTGGGATAGTTCCCCAAGCATCTCTAAAAGCAACAACAGTTGGAAATGGAGACGAAGGAAATGGAAGCGTGTTCTTGATTTTCACTAATGAAGAGTTGGAGAGGTCTGAAGTTCAATTAGAGGGAGAAAGGGGCCAGGGTCATCGGAAAGGGCCCTGGGCGGGGAATCAGGGCACCTAGGATGGCGTCCCAGGTCTCCATGACCCAGACAAGTCACTCCACCTCTCCGGACCTCAGTTTTCCCATCCCCTTCAAAGGATTTGAGGGGAAAAGGGAGGGTCCAGGACTCCAACGCCCTCCCGACTCTGGCCTGAGAGCTGTCCGGCCTCGCCTCTAAGAGAGCAGTCACCACGGGCCAAGCCCCCAACCCTGACAGTCAGAGTGCCTGCAGGGCCGCCGCCTCGGCGGCTCGGGGCACTTACAGCCCGGAGGGACGCCAAGCCCACCAGTCGCCGCGGAAGCGCCTTCCTCATTGCTGCCATCTTGGCCCAGAATCCCCCGCGGCAGTCCAGCTGGGCCCCGCGTGACCGATGGCTCGTCTGGTGGGCGCGGCCCCGCCCCCGCCCCTCCGCCGTGACTTCCGAAGCTGGCTCCACCCCCAGCCTCTCTCCGTTTTGATTCCGAGCGCCTCTTCCATGCCAGGCCAAGTGAGACGCTAGGAATATAAAGATGAACAGAATCAGCCTGGACACCATGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCTAACATGGCGAAACCCCCGTCTCTCCAAAAAATCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGTTTGAACCCGGGAGGCGAGGTTGCAGCGAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGCGACACAGTGAGAGCCTGTCCAAAACAAAAAACCCAAAACCAAACAAACAAAAACATGAAAAGAAATTAACCAAATTCTGTGGCTTCTTGTGTTTAGAGTGTGGGAGGTGTGAGGAGACACATATTAATAGTTACACAAACAGTTGTGTCATTTCTAACTTGCACTATAAGAAGCAACGATTTGCTACTCACTGTTCCGAGTTCTTAGCACGGATTAACTCACGCATCACGATCTTCAGGATTCAAACACAGGCAGGCAGCTCCAGAGAGGGGGCATCCTTAGATTTCATACCTTAAAAAAATGATTAAGATTTATCTAGGTGTACTTTCTGAAGGGCTGAAAAAAAAAAAAATCTATCCAGGTGAAGAGGATACAAGAAAAACTTTCCAGACGGTGTAGCATTCGCAATGGCCCTGAGGCAAAGAAAATGCTGAGAACACTGTTTTTCTCTCTTTTGTTTTGTTGGTTTGTTTTGTTTGTTTGAGATGGAGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATTTCGGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGAGAGTCTCGTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTAGTGTTTTTAGTAGAAACGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCGAGAGCCACCGCCCCCGGCCAGAGCACTGTTTTCAAACTGTATGTTGTACCCCACTAATTGGTCACAGTATCAATTTAGTGGGTACAAACTTTATTTAAAACAAAGAACTAGAATTTTATCTATCTATCATCTATCTATCTATCTATCTATCTATCTATCTATCTATCCATCTATATTTATTTATTAAGACGAAGTCTCACTGTGTTGCCCAGGCTGGAGTGCGGTGGCGTGATCTCGGCTCACTGCAACCTCTGACCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAAGTGCCCATCACCGTGCCCAGATAATGTTTGTATTTTTAGTAGAGATGGAGGATTTCACCATGTTGGCCTGGGCTGAAGCAATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCAGGCCCCAAATATAAAATATTGCTCTATAAAATAATAAAAGAGTGATCTAAAAAAATAAAAATAATAATAAAAGAGAAAAGGCTGGGTGCAGTGGCTTACACCAGTAATTCCAGCACTTTGGGAGGTCGAGGTGGGAGGATCACTTGAGGTCAGAACTTGAAGACCACTCTGGCCAATAAAGTGAGACCCCAAGTCTATTCAATAAATAAGAAAAATAGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT
|
ATTTACATATTTATTTATTTATTTATTTATTTGAGATACAGTCTCATTCTGTCTCCAGGCTGGAGAGCAGTGGCGCGATCTTGGCTCACTGCAACCTTCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGATTTCACCAGGTTGGCCAGGCTGGTCCCGAACTCCCGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACCACGCCTGGTGAGCCATTTACATATTAACCCATACTGTCCTCTCAACAATCTTATCAGGTAGGAACTATCATCATCCCCATTTTACTGTAAGAAATCTAAGGCCCCACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACTCCAGTCTGGGTGACAGATGACAGAGCAAGACACCGTCTCAGGAAAAAAAAAAAGAAAGAAAAGAAAAGAAATCTGAGACCCAAAGAGATTAAGTAATCTTCCCGAGGTGACATGGGGAGTTACTCACTGAGGCAATATCTAAACCTGGCAGTGTGGCTCTAGAGCACAAGCTCCTAACCTCTGGGCCACTGTTGCCTCTTTACCACCGTTCGTTCGGTCCACAGTCTTCTCCTGGTTAAACATCCCGTTCCTCCTCTGTAAAGCTCTGCTCAGAGAGGGTCCCCCTAACCACACAAGTACTGTGCCACAGTGTCCTGAGGTATGGTGTACCTGCATCAACACCAACAGCGAATACTGACTAAACCCAGTGTTAAACTACAGGCCAGGGACTATTATTATCCCAACTCCGTAGGTGAAGAAACTAAGCCTCAGAAAGGTTACCCAAAAATCACAATTAGAAAGTGACAGAGCTTGGACTTGAACCCATATCTAGGCCTAATACTAATACTGGTTCCTATGCTTGGAACCCCATGGAGGGCCATCTCATTACACCAAATATTTCTTAAAAGCTTATTAATATCTACTATTGCGTTTAACTTTCCAAGTTGGAATTGCCATCTTCATTTTACACATGAGCAGGTGGTGCAGGTGAATGGCCAAGTAAAGATATTAACGTGGCTTTCTGAGAGGGACCCAGTGCCAGGAGTGTATTTTTCCCTCTATACAGTTATAACTCCTTCTCAACTCCCTAAGGTAAAAATACCACCACCGACTGATCACTTATTAGGAGCCAGAACACTGCCAGATGTGTTACTTACATTTTCTCTAATTTCCAAAACAACCCCAAGGGAATGTTGTCCGTTTTACAGACGAAAGAGCTGAGGTTTAGAGAAAGTAAATAACTATGTCATTAAGTCTAGAAAGTGGCAGAACTATTGGGACACCCTAGCTTCAGCTTTTATTTTTTCTGCTCCATACAGCTACGTCTCCCACACTTTTTCTGCGCTGAGAATGGGAGAGGGGAAAACATCAGGATCGAACAGGATCAAAGTGCAATTCCAAGGGAATCACAGCTTGGCTCCAATCAACGCAAGTCCCGCTCGGTAGGCTGGGATAGTTCCCCAAGCATCTCTAAAAGCAACAACAGTTGGAAATGGAGACGAAGGAAATGGAAGCGTGTTCTTGATTTTCACTAATGAAGAGTTGGAGAGGTCTGAAGTTCAATTAGAGGGAGAAAGGGGCCAGGGTCATCGGAAAGGGCCCTGGGCGGGGAATCAGGGCACCTAGGATGGCGTCCCAGGTCTCCATGACCCAGACAAGTCACTCCACCTCTCCGGACCTCAGTTTTCCCATCCCCTTCAAAGGATTTGAGGGGAAAAGGGAGGGTCCAGGACTCCAACGCCCTCCCGACTCTGGCCTGAGAGCTGTCCGGCCTCGCCTCTAAGAGAGCAGTCACCACGGGCCAAGCCCCCAACCCTGACAGTCAGAGTGCCTGCAGGGCCGCCGCCTCGGCGGCTCGGGGCACTTACAGCCCGGAGGGACGCCAAGCCCACCAGTCGCCGGGAAGCGCCTTCCTCATTGCTGCCATCTTGGCCCAGAATCCCCCGCGGCAGTCCAGCTGGGCCCCGCGTGACCGATGGCTCGTCTGGTGGGCGCGGCCCCGCCCCCGCCCCTCCGCCGTGACTTCCGAAGCTGGCTCCACCCCCAGCCTCTCTCCGTTTTGATTCCGAGCGCCTCTTCCATGCCAGGCCAAGTGAGACGCTAGGAATATAAAGATGAACAGAATCAGCCTGGACACCATGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCTAACATGGCGAAACCCCCGTCTCTCCAAAAAATCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGTTTGAACCCGGGAGGCGAGGTTGCAGCGAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGCGACACAGTGAGAGCCTGTCCAAAACAAAAAACCCAAAACCAAACAAACAAAAACATGAAAAGAAATTAACCAAATTCTGTGGCTTCTTGTGTTTAGAGTGTGGGAGGTGTGAGGAGACACATATTAATAGTTACACAAACAGTTGTGTCATTTCTAACTTGCACTATAAGAAGCAACGATTTGCTACTCACTGTTCCGAGTTCTTAGCACGGATTAACTCACGCATCACGATCTTCAGGATTCAAACACAGGCAGGCAGCTCCAGAGAGGGGGCATCCTTAGATTTCATACCTTAAAAAAATGATTAAGATTTATCTAGGTGTACTTTCTGAAGGGCTGAAAAAAAAAAAAATCTATCCAGGTGAAGAGGATACAAGAAAAACTTTCCAGACGGTGTAGCATTCGCAATGGCCCTGAGGCAAAGAAAATGCTGAGAACACTGTTTTTCTCTCTTTTGTTTTGTTGGTTTGTTTTGTTTGTTTGAGATGGAGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATTTCGGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGAGAGTCTCGTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTAGTGTTTTTAGTAGAAACGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCGAGAGCCACCGCCCCCGGCCAGAGCACTGTTTTCAAACTGTATGTTGTACCCCACTAATTGGTCACAGTATCAATTTAGTGGGTACAAACTTTATTTAAAACAAAGAACTAGAATTTTATCTATCTATCATCTATCTATCTATCTATCTATCTATCTATCTATCTATCCATCTATATTTATTTATTAAGACGAAGTCTCACTGTGTTGCCCAGGCTGGAGTGCGGTGGCGTGATCTCGGCTCACTGCAACCTCTGACCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAAGTGCCCATCACCGTGCCCAGATAATGTTTGTATTTTTAGTAGAGATGGAGGATTTCACCATGTTGGCCTGGGCTGAAGCAATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCAGGCCCCAAATATAAAATATTGCTCTATAAAATAATAAAAGAGTGATCTAAAAAAATAAAAATAATAATAAAAGAGAAAAGGCTGGGTGCAGTGGCTTACACCAGTAATTCCAGCACTTTGGGAGGTCGAGGTGGGAGGATCACTTGAGGTCAGAACTTGAAGACCACTCTGGCCAATAAAGTGAGACCCCAAGTCTATTCAATAAATAAGAAAAATAGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTN
|
pathogenic
| 5,582 |
Mutation found at chromosome 1 position 23845814, gene FUCA1 (alpha-L-fucosidase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Fucosidosis']
|
GTGTGCACCACCACGCCTGGTTACTTTTTGTATTTTCTGTAGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGACTCAAGAAATCCACCCGCCTCTCCTTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTGTACCTGGCCTTCATTACTTCTTTCCAGCCTTCTTTTTAACATAAACATTTAACGCTATATTTTCCTGAAGTACTTTTATTTTTAAAGCTACATCTTATAAGGTTCAATATATAGTGTTACTATCATTCCAAGTATTTTCTTTTCTTTTTTTTTTAGAAGTGTGCATGAAGTTGCTTTAAGACTGTGAAGAACCATATAAGCAATATTATTATCATCAGCTTGCTCTCTAATTCTGGGCAGAAAGTGATCTAATTAAAATTGGCTGTGCTAATCTACTTACACTAATGTGTTACTTTTTTCTTTCACAACCAGGCTTCATTTGCCTCACAAGAACTACATATTTGGAATTCTTTATATCTCATGGCACAATCCATAAATTTATGAATCAGTAACATAATGAGTTAGTGTATTTTAACTTTTACAAACACAGTTTTTTCTTCTCCAAGTTTTTGTTATTGTTCTTTAATTATATTGTAGACACTAAATAGCTTATATGATGTTGCTTCTTTGGTATTTGAGATTTGCAAATGTTCCATATGTGCTTGAGAAAAACACATATTCCTTAAATGTTGGATAAAGATTTCTAAATATATCTACTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTCTGGAAGGCTGTGAGGTAGGTGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATCGTGGTGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGAGGAAGGATCACTTGAACCTGGGAGGTGAAGGTTGCAGTGAGCCGAGATCACACCACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGCCTCAAAACAAAACAAAACAAGATTTCTAAACATATCTATTAAGGAAAAATTAAATAGAAAACTTGATTAGATCTCTAACAAAGAGGCTGAACTGGTAGTCAATTCAGAAGAATGGTATTAGAAGTGAGAAGCAGAAAAAACACAGGAATTACATTTTTTGTTCAGTGTTAAGGAGATTTTGCAAATCTCCTTAAAAAAAAAACACACACAAACCAGAAACTGATCTTAAAGCTATAAGCAGTATAAGTTGAAACTAGGAAAAGAAAGCTATACCATGTTTTTTTGGTAGAAATGATTGTGATGTACAAATTTTTTATTTGATCATACTTAAAAAGACAGAGCAGAATCACATTCATTTTCTTAATAGTATCACTGTAAACATAGCGAATTTTGGCGCTTTTAGATTGCTCTGAAAATTTCTGAAGAGTTGACCATAGCAGCCTGGTAAGCCTTTTCCTTTCCCCCAAAGCTCTCCTGCCCTTTGCAGAAAGACTGTTGGTGACAACTGATGCTAACTAAATAGCATGTGGTTGAGCTTGCCAAATCCTTCCACCTCCTCCCATAGGCAACAGGGTGACTTGGCTTAAAGGCATTGAGTAAGCAAGTAGGTTATCAGAGAACAGAGGGAAGATTCCATTGTAGATAATTTCCAAATATTACAATTGATGAACTCAGAGTTCAACTGCTCAGTTCCTTCTTCTGCTGACCTGATACAGATATAATCACAATGGATCTCAGATCTTTGGTCCATTTAGACATCAGGGTAATGTACTCAGTTCCTTTAATTAAAATGTGTTGGAAAAGCCATCTCTGGGTGGAGAAGAGAAGTTCGTTGATTATAGTGATGGTACTATAAGAGAAAAACTGAAGCAGGAAAACAGTGAGCAGCGCCTCTTTCTTCTTGCACTCAAATGATTACTTCACTCCTGTCAGCTTTATAGTCCAAGCAAACTCTGCGGGGACAGCAGAGGGTGGCAACTGGGGTAGAGAGATGAAGAGACCTTTATCTGGATCTGTGGACCACTTCAGATCTCCTTGAATTCCCAGCATTGTTATCTGCAGAAAACAAAAGGGAATGAAACAAACTGGTAATGCACTAATGAGTATAGAATACAGGCTGACTATGGTAGGAAACAGCCACGCTGGGCCAGGGCAGGAAAGCCAGTCTAAAAGAGGTGTGAATATGGGAGAAACCTGGCAGGGAAGGAAGAAAGGAAGGATCTGCCAATTCCTTTACAGAAAGTTACATCTTAAGACTGACTAAGCCTCTTTACCTTTGTAGTTGAGGTAGTTATGGGGGATTCAAGGTTTAAGACTCCATTTTCTGGCCAGTGCAGAAAAATGGCATAAACAGCCGATCCCTTTGAGGTATACCTGGGAAAACAGAAACAACACTGTCAAAGATACCTGACTTGTTATCCTGATATACAACTTTATACATTTCCTCCTTTTTAATGTTAATTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATGTTGGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGTTCAGCCTCCTGAGTCACTGGATTACAGGTGTGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGCATTTTGCTATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCTGCATTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCATTGCACTCAGCTCCTTATTTATTTTTTTTTTGAGACGAAGCCTTGTTGTCCAGGCTCTTGTTGTCCAGGATGGAGTGCAGTGGCGTGATCTTGGCTCACTACAACCTCCACTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCTGAGTAACTGGGATTACAGGTGCCTGCCACCATACCCTGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTCGGATTACAGGCGTGAGTCACTGTTTTGGGCCTAATTTCTTTTTTTTTAAGTGATGGAGTCTTGCTGTGTTGCCCAACACAACTTGCTGTGTTGTGCTGGGCTCAAGTGATCCTCCCACCTTGGCCTTAGAAAGTGCTGGGATTACAGGCATGAAGCACTGCACAAGGCCACTCATTCCCCTTTCAATTATCTACCAAATCCCAGTCCTCGAGTCTGTCACTGTTACTAGGGAGCACCAATAACTCAATACCAATGAAGGTGTGCAGGAAGGAGGCAGTCTATAAAACTCTATCTGGTGATACTATCTATTTTCCCTACCAATTGGGTTAAGTTGTCTTTAAAAATTATCTCCTACATCAGTTACTGCAAATAAATAGAGCCATTTACCTTATTATTCAAATCTCTTTTCTATTCCAAATCCATGTGAAAATAGCAGAGACTATAACAAGGACAAGACATGCAATGAAAACAAATTTGTTGTTCAGAGATTTCTTTTTTTTTTTTTCTGAGACTGCACCCAGCCTGTTCTGAAATTTCACTATGTTTAGAGAAGAGGATGAAAATCACTACTATGGTTTGAATGCATCTCCCAAATCTCATGATGGAAACTTAATCCCCAAATTCATATGTCGATGGTATAGTATTTAGAGGTGAGGCCTTTGGGAAGTAATTAGGATCATATAAGGTAATCAGGGCAGGGCCCCATGATGGGACTGATGGCTTTATAAAAGGAAGAAAGACCTGAGTGGACATGCCCACTCTCATCCCCAACCATGTCATGATGTAGCAGGAAGGCCCTTACCAGATGCTGGTGCTATGCTCTTGAACTTCCCAGCCTCCAGAACTGTGAGCTAAATAAACCTCTATTCTTTAAAAATTATCCAGTCTAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCAGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAA
|
GTGTGCACCACCACGCCTGGTTACTTTTTGTATTTTCTGTAGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGACTCAAGAAATCCACCCGCCTCTCCTTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTGTACCTGGCCTTCATTACTTCTTTCCAGCCTTCTTTTTAACATAAACATTTAACGCTATATTTTCCTGAAGTACTTTTATTTTTAAAGCTACATCTTATAAGGTTCAATATATAGTGTTACTATCATTCCAAGTATTTTCTTTTCTTTTTTTTTTAGAAGTGTGCATGAAGTTGCTTTAAGACTGTGAAGAACCATATAAGCAATATTATTATCATCAGCTTGCTCTCTAATTCTGGGCAGAAAGTGATCTAATTAAAATTGGCTGTGCTAATCTACTTACACTAATGTGTTACTTTTTTCTTTCACAACCAGGCTTCATTTGCCTCACAAGAACTACATATTTGGAATTCTTTATATCTCATGGCACAATCCATAAATTTATGAATCAGTAACATAATGAGTTAGTGTATTTTAACTTTTACAAACACAGTTTTTTCTTCTCCAAGTTTTTGTTATTGTTCTTTAATTATATTGTAGACACTAAATAGCTTATATGATGTTGCTTCTTTGGTATTTGAGATTTGCAAATGTTCCATATGTGCTTGAGAAAAACACATATTCCTTAAATGTTGGATAAAGATTTCTAAATATATCTACTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTCTGGAAGGCTGTGAGGTAGGTGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATGGTGAAACCCCGTCTCTACAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATCGTGGTGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGAGGAAGGATCACTTGAACCTGGGAGGTGAAGGTTGCAGTGAGCCGAGATCACACCACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGCCTCAAAACAAAACAAAACAAGATTTCTAAACATATCTATTAAGGAAAAATTAAATAGAAAACTTGATTAGATCTCTAACAAAGAGGCTGAACTGGTAGTCAATTCAGAAGAATGGTATTAGAAGTGAGAAGCAGAAAAAACACAGGAATTACATTTTTTGTTCAGTGTTAAGGAGATTTTGCAAATCTCCTTAAAAAAAAAACACACACAAACCAGAAACTGATCTTAAAGCTATAAGCAGTATAAGTTGAAACTAGGAAAAGAAAGCTATACCATGTTTTTTTGGTAGAAATGATTGTGATGTACAAATTTTTTATTTGATCATACTTAAAAAGACAGAGCAGAATCACATTCATTTTCTTAATAGTATCACTGTAAACATAGCGAATTTTGGCGCTTTTAGATTGCTCTGAAAATTTCTGAAGAGTTGACCATAGCAGCCTGGTAAGCCTTTTCCTTTCCCCCAAAGCTCTCCTGCCCTTTGCAGAAAGACTGTTGGTGACAACTGATGCTAACTAAATAGCATGTGGTTGAGCTTGCCAAATCCTTCCACCTCCTCCCATAGGCAACAGGGTGACTTGGCTTAAAGGCATTGAGTAAGCAAGTAGGTTATCAGAGAACAGAGGGAAGATTCCATTGTAGATAATTTCCAAATATTACAATTGATGAACTCAGAGTTCAACTGCTCAGTTCCTTCTTCTGCTGACCTGATACAGATATAATCACAATGGATCTCAGATCTTTGGTCCATTTAGACATCAGGGTAATGTACTCAGTTCCTTTAATTAAAATGTGTTGGAAAAGCCATCTCTGGGTGGAGAAGAGAAGTTCGTTGATTATAGTGATGGTACTATAAGAGAAAAACTGAAGCAGGAAAACAGTGAGCAGCGCCTCTTTCTTCTTGCACTCAAATGATTACTTCACTCCTGTCAGCTTTATAGTCCAAGCAAACTCTGCGGGGACAGCAGAGGGTGGCAACTGGGGTAGAGAGATGAAGAGACCTTTATCTGGATCTGATCTCCTTGAATTCCCAGCATTGTTATCTGCAGAAAACAAAAGGGAATGAAACAAACTGGTAATGCACTAATGAGTATAGAATACAGGCTGACTATGGTAGGAAACAGCCACGCTGGGCCAGGGCAGGAAAGCCAGTCTAAAAGAGGTGTGAATATGGGAGAAACCTGGCAGGGAAGGAAGAAAGGAAGGATCTGCCAATTCCTTTACAGAAAGTTACATCTTAAGACTGACTAAGCCTCTTTACCTTTGTAGTTGAGGTAGTTATGGGGGATTCAAGGTTTAAGACTCCATTTTCTGGCCAGTGCAGAAAAATGGCATAAACAGCCGATCCCTTTGAGGTATACCTGGGAAAACAGAAACAACACTGTCAAAGATACCTGACTTGTTATCCTGATATACAACTTTATACATTTCCTCCTTTTTAATGTTAATTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATGTTGGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGTTCAGCCTCCTGAGTCACTGGATTACAGGTGTGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGCATTTTGCTATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCTGCATTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCATTGCACTCAGCTCCTTATTTATTTTTTTTTTGAGACGAAGCCTTGTTGTCCAGGCTCTTGTTGTCCAGGATGGAGTGCAGTGGCGTGATCTTGGCTCACTACAACCTCCACTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGGCTCCTGAGTAACTGGGATTACAGGTGCCTGCCACCATACCCTGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTCGGATTACAGGCGTGAGTCACTGTTTTGGGCCTAATTTCTTTTTTTTTAAGTGATGGAGTCTTGCTGTGTTGCCCAACACAACTTGCTGTGTTGTGCTGGGCTCAAGTGATCCTCCCACCTTGGCCTTAGAAAGTGCTGGGATTACAGGCATGAAGCACTGCACAAGGCCACTCATTCCCCTTTCAATTATCTACCAAATCCCAGTCCTCGAGTCTGTCACTGTTACTAGGGAGCACCAATAACTCAATACCAATGAAGGTGTGCAGGAAGGAGGCAGTCTATAAAACTCTATCTGGTGATACTATCTATTTTCCCTACCAATTGGGTTAAGTTGTCTTTAAAAATTATCTCCTACATCAGTTACTGCAAATAAATAGAGCCATTTACCTTATTATTCAAATCTCTTTTCTATTCCAAATCCATGTGAAAATAGCAGAGACTATAACAAGGACAAGACATGCAATGAAAACAAATTTGTTGTTCAGAGATTTCTTTTTTTTTTTTTCTGAGACTGCACCCAGCCTGTTCTGAAATTTCACTATGTTTAGAGAAGAGGATGAAAATCACTACTATGGTTTGAATGCATCTCCCAAATCTCATGATGGAAACTTAATCCCCAAATTCATATGTCGATGGTATAGTATTTAGAGGTGAGGCCTTTGGGAAGTAATTAGGATCATATAAGGTAATCAGGGCAGGGCCCCATGATGGGACTGATGGCTTTATAAAAGGAAGAAAGACCTGAGTGGACATGCCCACTCTCATCCCCAACCATGTCATGATGTAGCAGGAAGGCCCTTACCAGATGCTGGTGCTATGCTCTTGAACTTCCCAGCCTCCAGAACTGTGAGCTAAATAAACCTCTATTCTTTAAAAATTATCCAGTCTAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCAGAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAANNNNNNNNNNNNN
|
pathogenic
| 5,586 |
Variant on chromosome 1, at position 23854518, affecting FUCA1 (alpha-L-fucosidase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Fucosidosis']
|
CCCTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCACTGATGCCGAGCCGAAGCTGGACTGTACTGCTGCCACCTCGGGTCACTGCAGCCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGGTGCGCGCCACCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACTGCGAGTGATCCGCCAGCCTCGGCCTCCAGAGGTGCCGGGATTGCAGATGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGACGTGAGGAGCCCCTCTGCCTGGCTACCCAGTCTGGAAAATGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCACCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCATCTGAGAAGTGAGGAAACCCTCCGCCTGGCAACCGCCCCATATGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCTGGTAAGTGAGGAGCGTCTCTGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCACCACCCCGTCTGGGAGGTGTACCGAACAGCTCATTGAGAACGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGGGGGAAAGGCGGGGAAAGGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAGGTAGACACGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGTGATCCTGTTGATCGGTGACCCTACCCACAACCCTGTGCTCTCTGAAACGTGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCATAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCCTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAGAATAAATAAATAAATAAATAAATAAATAAAAAACTGGACACCCTACTACCCACACCCACTTTAAGATATAGATTACAACCAACACCGTTAAAGCCCTTTTGCATGCCCTTCTCCATCCCAGCCCCCTCCTAAATTTTGTTTATAATGATCTCGCTTTTCTTCATAATTTTACCTCCAAAATATGCATCTGTAAACAATATGCTGTTTTTGCAAGCTTTTGAACATTATATAAAATAAATCATACTGCATGTTAAAAAAAAAAAAACAAAAACAAAAAACTCAAAGGTGCTCTTACCGAAATGATTTCAGATTCTTCTGTAACATCAGACAATGCCATGTCACGACGATAGCCCCAGGAAAACTTGTCAATGCTGGTGCACATCTCCCACTTGTGATCTGGCAAGCTCTGTGGCTTGAATTTATCTTCACAGTTATAGTATCCTCCATGGTGACAGGAACAGTTCTGACCCCATCGGTCATTTACTACCACCTCATCCTAAGGAGGGAAAGAATATTTGGTCATGAGGAGTAAAACCACTTGACTTCTTTATGTAATACACTTTGGTAAGGCTCTATTTGGAAGCAAGAAACTTAGTCTAGAGCAGTGGCTGTCAACTGGGGGCAATTTTGCTCTGGAGGGGACATTTGGTAAAGTCTAGAGACATTTTTGATTGTCACAACGGGGGTGGTATGCCATCTAGTGGGTAGAGACCAGGGATGTTACTAAACGTCCTACAATGCACAGGACAGCCCCCACAGCAAAGAAATATTCAGCCCTAAATGTCAACAGTACTGAGGTAGAGAAACCCTGCTGCAGAGATACATGTCAGGGCTGGGAGAGCTTGCTTTAAAGATCATCTGGTAAATCACTTTTTCTATAAGAGGAGAAATGAACAGGAGAGGACCTGCCTGGGGCCATGCCCCTAGGCAGTTTCAAAAGCTGGAACTACAAATCAGGTATCTGAACCCATGGCAGGCTGTTTTCCAACTATATAATCCCAGCCTTACTTACGTAAAAAAAAAGTCTTAAGACAATCCCACTCAAAAAAAAAAAAAATAGCAAATTCTTTTTCTTACTTCAAGGTTTAGCTGAAGAATGATAAATCATACATGGAATATCTTAATGTAAATGTTAAATGCAGCATATTTTATAACAGAGTGGCCAATACAAGATAAAAACTGAAACCATTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATAGAGACCAACCTGGCTAACACGGTGAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAGGCAACAGCAGAGCGAGACTCCGTCTCAAAAACAAAAACAAAAACAAAACTGAAACCATGTTCAATTCATCACGGCAAAAAGAGATTTATTAAAAGTTTAAAATTCCCATTTCTTGCCTGTTTTAGAGTCATTCACATTGGTATGAAGTTTCTCCTATGGAAGCTAGTTAAGTGCCAAAGAGAAATAGAAGAATAGTCATTATTTGTAACTAGTTCAATCCAATGTCTGGTACTTGATTATCAATGTCTGGGCATCATGGGTCACAGAATTGAAAAGGACAACTCAAGATCAATTCAAGAACAGGTATGTAAAAGCCATTTCAGAGAAAAATGGGGTATTAACAATCCTAATTCTTCATTCAACACCTACCCATCCGCTTATTCAATAAGTATTTACTCAACAACTACCATGGGGCTCACACTGTGGGCAGATACTGGGTCTCCAAGGTGAATAAAACAGAGGTCTTGCCCTCAACCATCCAGCAGAGACTAGCAGAGGAGACAGATATGTGGACAATTACAATATGACATCATATCAGAGTTTATGCCTGGTTACAAGATTATCAAGGGCTTTGAGGTTCATAGCTGGCTCCACCACCTAGTAGTCAAGGGGTCTTAGGCAGGTAACTTTACCTTTTAAGTTAGTTACTTATCTATAAAAACAAACAAACAAAACCAACCAAACAAACAAAATCCAAAGGCAAATATCACCCACCTCACAGGGGTTTGAGAGGGAGGGATAAAAGTGACAGTGTGCCCAGACTCTGGCTCAGAGTGAATAAAGGTGTCTCCTTGCCACACCTCCTCTTTCTCAGAGTCCTCAGGTGATGTGAACGCTCCCTGTACACTCAGCCTGTCAAGGACAGACACAACCATGCACTCCTTCATCCCACAGAAGCTAATGCAGTACCCTCCACTTTGGCATTCGAACCAGTGTCTATGGATTGTGGAGACCTCAGGACATACTTCTACTATCATACTGGTCACCCTACAATGTACTTTGTTTGTATGTCTGTCTTTCTCTTCAGACTGTAGTTCCCTAAGAGCAGAAACCATTCATTCAGCATTTCCAAGGCTTAGCATGCGGCATGCT
|
CCCTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCACTGATGCCGAGCCGAAGCTGGACTGTACTGCTGCCACCTCGGGTCACTGCAGCCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGGTGCGCGCCACCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACTGCGAGTGATCCGCCAGCCTCGGCCTCCAGAGGTGCCGGGATTGCAGATGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGACGTGAGGAGCCCCTCTGCCTGGCTACCCAGTCTGGAAAATGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCACCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCATCTGAGAAGTGAGGAAACCCTCCGCCTGGCAACCGCCCCATATGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCTGGTAAGTGAGGAGCGTCTCTGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCACCACCCCGTCTGGGAGGTGTACCGAACAGCTCATTGAGAACGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGGGGGAAAGGCGGGGAAAGGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAGGTAGACACGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGTGATCCTGTTGATCGGTGACCCTACCCACAACCCTGTGCTCTCTGAAACGTGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCATAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCCTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAGAATAAATAAATAAATAAATAAATAAATAAAAAACTGGACACCCTACTACCCACACCCACTTTAAGATATAGATTACAACCAACACCGTTAAAGCCCTTTTGCATGCCCTTCTCCATCCCAGCCCCCTCCTAAATTTTGTTTATAATGATCTCGCTTTTCTTCATAATTTTACCTCCAAAATATGCATCTGTAAACAATATGCTGTTTTTGCAAGCTTTTGAACATTATATAAAATAAATCATACTGCATGTTAAAAAAAAAAAAACAAAAACAAAAAACTCAAAGGTGCTCTTACCGAAATGATTTCAGATTCTTCTGTAACATCAGACAATGCCATGTCACGACGATAGCCCCAGGAAAACTTGTCAATGCTGGTGCACATCTCCCACTTGTGATCTGGCAAGCTCTGTGGCTTGAATTTATCTTCACAGTTATAGTATCCTCCATGGTGACAGAACAGTTCTGACCCCATCGGTCATTTACTACCACCTCATCCTAAGGAGGGAAAGAATATTTGGTCATGAGGAGTAAAACCACTTGACTTCTTTATGTAATACACTTTGGTAAGGCTCTATTTGGAAGCAAGAAACTTAGTCTAGAGCAGTGGCTGTCAACTGGGGGCAATTTTGCTCTGGAGGGGACATTTGGTAAAGTCTAGAGACATTTTTGATTGTCACAACGGGGGTGGTATGCCATCTAGTGGGTAGAGACCAGGGATGTTACTAAACGTCCTACAATGCACAGGACAGCCCCCACAGCAAAGAAATATTCAGCCCTAAATGTCAACAGTACTGAGGTAGAGAAACCCTGCTGCAGAGATACATGTCAGGGCTGGGAGAGCTTGCTTTAAAGATCATCTGGTAAATCACTTTTTCTATAAGAGGAGAAATGAACAGGAGAGGACCTGCCTGGGGCCATGCCCCTAGGCAGTTTCAAAAGCTGGAACTACAAATCAGGTATCTGAACCCATGGCAGGCTGTTTTCCAACTATATAATCCCAGCCTTACTTACGTAAAAAAAAAGTCTTAAGACAATCCCACTCAAAAAAAAAAAAAATAGCAAATTCTTTTTCTTACTTCAAGGTTTAGCTGAAGAATGATAAATCATACATGGAATATCTTAATGTAAATGTTAAATGCAGCATATTTTATAACAGAGTGGCCAATACAAGATAAAAACTGAAACCATTTGGGAGGCCAAGGCAGGCAGATCATGAGGTCAGGAGATAGAGACCAACCTGGCTAACACGGTGAAATCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAGGCAACAGCAGAGCGAGACTCCGTCTCAAAAACAAAAACAAAAACAAAACTGAAACCATGTTCAATTCATCACGGCAAAAAGAGATTTATTAAAAGTTTAAAATTCCCATTTCTTGCCTGTTTTAGAGTCATTCACATTGGTATGAAGTTTCTCCTATGGAAGCTAGTTAAGTGCCAAAGAGAAATAGAAGAATAGTCATTATTTGTAACTAGTTCAATCCAATGTCTGGTACTTGATTATCAATGTCTGGGCATCATGGGTCACAGAATTGAAAAGGACAACTCAAGATCAATTCAAGAACAGGTATGTAAAAGCCATTTCAGAGAAAAATGGGGTATTAACAATCCTAATTCTTCATTCAACACCTACCCATCCGCTTATTCAATAAGTATTTACTCAACAACTACCATGGGGCTCACACTGTGGGCAGATACTGGGTCTCCAAGGTGAATAAAACAGAGGTCTTGCCCTCAACCATCCAGCAGAGACTAGCAGAGGAGACAGATATGTGGACAATTACAATATGACATCATATCAGAGTTTATGCCTGGTTACAAGATTATCAAGGGCTTTGAGGTTCATAGCTGGCTCCACCACCTAGTAGTCAAGGGGTCTTAGGCAGGTAACTTTACCTTTTAAGTTAGTTACTTATCTATAAAAACAAACAAACAAAACCAACCAAACAAACAAAATCCAAAGGCAAATATCACCCACCTCACAGGGGTTTGAGAGGGAGGGATAAAAGTGACAGTGTGCCCAGACTCTGGCTCAGAGTGAATAAAGGTGTCTCCTTGCCACACCTCCTCTTTCTCAGAGTCCTCAGGTGATGTGAACGCTCCCTGTACACTCAGCCTGTCAAGGACAGACACAACCATGCACTCCTTCATCCCACAGAAGCTAATGCAGTACCCTCCACTTTGGCATTCGAACCAGTGTCTATGGATTGTGGAGACCTCAGGACATACTTCTACTATCATACTGGTCACCCTACAATGTACTTTGTTTGTATGTCTGTCTTTCTCTTCAGACTGTAGTTCCCTAAGAGCAGAAACCATTCATTCAGCATTTCCAAGGCTTAGCATGCGGCATGCTN
|
pathogenic
| 5,598 |
The mutation impacting FUCA1 (alpha-L-fucosidase 1) on chromosome 1 at position 23863134: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Fucosidosis']
|
GGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCCTAGCTAACACCGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGCGACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAATTAACCTGCACATTGTACACATGTATCCTAAAACTTAAAGTATAATAAAAAAAAAAAGAATGGTGTTTCAAGGAAGCAAAGGAAACAAAATGGTGCTTCAGGACTATAAGACTAAGATTTGCTTTGAAGATGTTTTAAGAGTTGGAACTATTCATAAAATGCATTTTTGTGGATAATTACCAAAGTCTGTACTGTAAAGGACTTATGGAATCCACTGGAGCCCCATTTGTACTCTAGCATATTATTACTCTGAGCCCTATAAGGCATGTATGTTGTGTGTATATACATAAATACATATGTATATACCTATATGGTAAGCATTATTATTCTCATTTGAGCAGCAAGACTTTGATGCTCAGTAGGGCAATTTGTTTCAGGTGACAAGGCTTGTAAGTAACAGGAGGTGGAACTCAAATACAAATCTGCCCATTTGTCCACTGTACTCCATAATTAGGCAGGTAAACTCTAGGAAGATCACTAAGTGGCAAGATATAACAGATGGTCTGTGATTTACTGTGTATAAGAAATTGTACTAGGCAATTTAAACTCATTACCTCATTAGTTCTCATGATTCTAGGATATACTATTATCCCATTTCACAGATAGAGAAACCAAGATCTCGAAAGATAAGTAGTTTGTTCAAGGCAACATAGCCAAGTACGATAAAAGAGTGGGGATCTAAGATTCAGTAATTCTAAATCTGTCCATGTCTCTGATGGTCTCTTACAATTGTTACTATTTTCTTAAGAGAAGTCATCTGGATAGAATCTGAATACAAGGTAATTTTTCTTTTCTTGAGACAAAGTTTTCCTCTGTAGCCCAGGCTGAAGTACAGTAGCAGGATCTCGGCTCACTGCAACTGCCTCCCTGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTATGCACCAGCATGCCTGGCCAATTTTTGTATTTTTTAGTAGAGACGAGATTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGCGCCTGGCTAAAGGTGATTTTCCTTTGCTCTAAAGTGAGGGTCCAGGCAGCTGCCTCTGAAGCTTTAAGGGTCTACCGTCCTCTATGAGTCCCCAGGCTCGAGAAAGGCAAATGGGGATAAAACATTGTGAAGAACTAGTGACAAATCCCTAAGTGAAAGTGATCATTTAAAGAATAATGGTAATAACAACAGCCTTACTTTGTACCAGGCACCGTGACAGATACATTTCACATACTATTCTGAGCCCTACAAAGAAGGCATTATTATCCCCACTTTACAGAGTGAGAATCAAGCTCAGGAGAGTGTTCTGTTTAAGGCATGTAAGTAACAGGAGCCAGAATTCAAACACAAATCTGCCCGATGCCAAACCACCCCCTCTCCAGGGTCCTGACATAGGGAAAACGGCATGTAAGAAGGGAACTAAAATTTTGACTTTCTGCCATCCTGGGTTTTGTGTGATTGTTTCAATGTAGAAGGCAATATGGCCACATGACAGAAGTTCTGAAAGGCAGGAGGAAAGAACATATTTTGTCTTAATACAACCACCACTTTTTATTATTTTGATGTCTTTTAGGTTTTTTTCATACCTATCCCTCCTCCACTTTAATGGTACCCTATAGGAAGCTCTGATTTCATTGATAAAAGTCATAGGGCCAAAATATTTCAGTGTCTTACCTGTTAACAAGGTCGTACAGCTCTGGCATTGTTTTTGCACTGACAAAATGCTGTGTTTTGAAGCCATTTTTCTTATCAAGTAGATAGAGTGGATGGAACCACTCTAAGAGTGAGTGGTATAGTCCATAGCGGATGTTCCTTAAACAGAAAAACAGAACAGCAACTGTCATTAAGCATAGAACAAATAATTTATTTTAAGGAAAATCAGTTCTAGCATTTTTTCATTTCAGTGGCACTCACTCATAAGAGCATATAGAGAGGAATGGGATCCAAAACCATTTCCTTAAATTATTCACTATTCACTTAAGCAAAATGAGGTTTACTGTGTTTTTGATTAAACACATAACTACCTTTTATACATAAATATCTTAACACCAAAATATTATTTAAACCATCTTTTATCTTTTAAGTCAATTATCCCAACAGAGTATAGTCCTGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGTCCATGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCCACAAAAACTGTAAAAATTAGCTGAGTGTGGTGGTGCGAGCCTGTAGTCCCAGCTACTTGGGAGGCTAAAGTGGGAGGATGGCTTGAGCCCAGGAGGTAGAGATTGCAGTGAGCTAAGATTGTGCCACTGGAGTCTAGCAAAGGCGACAGAGTGAGACCCTGTCTCAAAACAAAAACAAAACAAAACAAAACAAAAAACCATATAGCCTTATTTTTAAAAAATGTCTTCCCTGTCAATCATAAAATTTCATATTTAAAGAAACTGGAAAATAGAAAATCAAATATGCAAAGTACTCTTACTCAGAAATAATCATTAGTAACATTTTCCACACAGTTGAAATGAATATAGGTTTATCGTTTTATTTATCTAAGATTTACTAATAGTTCTTTCTCTTTTTTTCCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCCACCACCACACCCAGCTAATTTATTTTTTATTTTTACTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGTCACCACGCCTGGCCAAACTAATAGTTCTTAACGTACACAAAATGAAATGTGGTTGATGACCTATTTTCATATTTAATAAAGCTTGCTTTGGGTTAAGAATGGTGAGTGTTACAAAAACCTTATAATGCAAGAAGCAATTACACAGATAAAAAACAACTGAAGTATTTCATCATATGACCCAGGGACTAAATAAAGATGGTAAAAATCATGACTCCTGAAGTCCATATCTAATCAATATCTCAGAGTTTTACAGCAGGACTTTAAGCAAAGCACAGTGCTGAGAAACAAACTGAGCAGGTGACAGGAGTCAGCAAACTCTTTTTGTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCCACCCACGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTTGCTGGGACTACAGGCAAACGCCACCACGCCCGGCTAATTTTGGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGTTGGTCTTGAACTCCTGACCTCATGATCTGCTTGCCTCTGCCTCCCAAAGTCCTGGGATTACAAGTGTGAGTCAACGCACCCGACCAGTGAACTCTTAAAGATCCAGACAGTGTTTTAGGTTTTGCAGGCCATTTGGTCTCTATCTCAGCTCTCAAATTGTAGCTTGAAAGCAGTCACAGACAGTGCATAAATGAATAGGCATGGCTGTGTTCCAATCAAACTTTATGATTTATACAGACACTCAGCCTACTCCTCAAACAGGAC
|
GGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCCTAGCTAACACCGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGCGACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAATTAACCTGCACATTGTACACATGTATCCTAAAACTTAAAGTATAATAAAAAAAAAAAGAATGGTGTTTCAAGGAAGCAAAGGAAACAAAATGGTGCTTCAGGACTATAAGACTAAGATTTGCTTTGAAGATGTTTTAAGAGTTGGAACTATTCATAAAATGCATTTTTGTGGATAATTACCAAAGTCTGTACTGTAAAGGACTTATGGAATCCACTGGAGCCCCATTTGTACTCTAGCATATTATTACTCTGAGCCCTATAAGGCATGTATGTTGTGTGTATATACATAAATACATATGTATATACCTATATGGTAAGCATTATTATTCTCATTTGAGCAGCAAGACTTTGATGCTCAGTAGGGCAATTTGTTTCAGGTGACAAGGCTTGTAAGTAACAGGAGGTGGAACTCAAATACAAATCTGCCCATTTGTCCACTGTACTCCATAATTAGGCAGGTAAACTCTAGGAAGATCACTAAGTGGCAAGATATAACAGATGGTCTGTGATTTACTGTGTATAAGAAATTGTACTAGGCAATTTAAACTCATTACCTCATTAGTTCTCATGATTCTAGGATATACTATTATCCCATTTCACAGATAGAGAAACCAAGATCTCGAAAGATAAGTAGTTTGTTCAAGGCAACATAGCCAAGTACGATAAAAGAGTGGGGATCTAAGATTCAGTAATTCTAAATCTGTCCATGTCTCTGATGGTCTCTTACAATTGTTACTATTTTCTTAAGAGAAGTCATCTGGATAGAATCTGAATACAAGGTAATTTTTCTTTTCTTGAGACAAAGTTTTCCTCTGTAGCCCAGGCTGAAGTACAGTAGCAGGATCTCGGCTCACTGCAACTGCCTCCCTGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTATGCACCAGCATGCCTGGCCAATTTTTGTATTTTTTAGTAGAGACGAGATTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGCGCCTGGCTAAAGGTGATTTTCCTTTGCTCTAAAGTGAGGGTCCAGGCAGCTGCCTCTGAAGCTTTAAGGGTCTACCGTCCTCTATGAGTCCCCAGGCTCGAGAAAGGCAAATGGGGATAAAACATTGTGAAGAACTAGTGACAAATCCCTAAGTGAAAGTGATCATTTAAAGAATAATGGTAATAACAACAGCCTTACTTTGTACCAGGCACCGTGACAGATACATTTCACATACTATTCTGAGCCCTACAAAGAAGGCATTATTATCCCCACTTTACAGAGTGAGAATCAAGCTCAGGAGAGTGTTCTGTTTAAGGCATGTAAGTAACAGGAGCCAGAATTCAAACACAAATCTGCCCGATGCCAAACCACCCCCTCTCCAGGGTCCTGACATAGGGAAAACGGCATGTAAGAAGGGAACTAAAATTTTGACTTTCTGCCATCCTGGGTTTTGTGTGATTGTTTCAATGTAGAAGGCAATATGGCCACATGACAGAAGTTCTGAAAGGCAGGAGGAAAGAACATATTTTGTCTTAATACAACCACCACTTTTTATTATTTTGATGTCTTTTAGGTTTTTTTCATACCTATCCCTCCTCCACTTTAATGGTACCCTATAGGAAGCTCTGATTTCATTGATAAAAGTCATAGGGCCAAAATATTTCAGTGTCTTACCGTTAACAAGGTCGTACAGCTCTGGCATTGTTTTTGCACTGACAAAATGCTGTGTTTTGAAGCCATTTTTCTTATCAAGTAGATAGAGTGGATGGAACCACTCTAAGAGTGAGTGGTATAGTCCATAGCGGATGTTCCTTAAACAGAAAAACAGAACAGCAACTGTCATTAAGCATAGAACAAATAATTTATTTTAAGGAAAATCAGTTCTAGCATTTTTTCATTTCAGTGGCACTCACTCATAAGAGCATATAGAGAGGAATGGGATCCAAAACCATTTCCTTAAATTATTCACTATTCACTTAAGCAAAATGAGGTTTACTGTGTTTTTGATTAAACACATAACTACCTTTTATACATAAATATCTTAACACCAAAATATTATTTAAACCATCTTTTATCTTTTAAGTCAATTATCCCAACAGAGTATAGTCCTGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGTCCATGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCCACAAAAACTGTAAAAATTAGCTGAGTGTGGTGGTGCGAGCCTGTAGTCCCAGCTACTTGGGAGGCTAAAGTGGGAGGATGGCTTGAGCCCAGGAGGTAGAGATTGCAGTGAGCTAAGATTGTGCCACTGGAGTCTAGCAAAGGCGACAGAGTGAGACCCTGTCTCAAAACAAAAACAAAACAAAACAAAACAAAAAACCATATAGCCTTATTTTTAAAAAATGTCTTCCCTGTCAATCATAAAATTTCATATTTAAAGAAACTGGAAAATAGAAAATCAAATATGCAAAGTACTCTTACTCAGAAATAATCATTAGTAACATTTTCCACACAGTTGAAATGAATATAGGTTTATCGTTTTATTTATCTAAGATTTACTAATAGTTCTTTCTCTTTTTTTCCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCCACCACCACACCCAGCTAATTTATTTTTTATTTTTACTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGTCACCACGCCTGGCCAAACTAATAGTTCTTAACGTACACAAAATGAAATGTGGTTGATGACCTATTTTCATATTTAATAAAGCTTGCTTTGGGTTAAGAATGGTGAGTGTTACAAAAACCTTATAATGCAAGAAGCAATTACACAGATAAAAAACAACTGAAGTATTTCATCATATGACCCAGGGACTAAATAAAGATGGTAAAAATCATGACTCCTGAAGTCCATATCTAATCAATATCTCAGAGTTTTACAGCAGGACTTTAAGCAAAGCACAGTGCTGAGAAACAAACTGAGCAGGTGACAGGAGTCAGCAAACTCTTTTTGTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCCACCCACGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTTGCTGGGACTACAGGCAAACGCCACCACGCCCGGCTAATTTTGGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGTTGGTCTTGAACTCCTGACCTCATGATCTGCTTGCCTCTGCCTCCCAAAGTCCTGGGATTACAAGTGTGAGTCAACGCACCCGACCAGTGAACTCTTAAAGATCCAGACAGTGTTTTAGGTTTTGCAGGCCATTTGGTCTCTATCTCAGCTCTCAAATTGTAGCTTGAAAGCAGTCACAGACAGTGCATAAATGAATAGGCATGGCTGTGTTCCAATCAAACTTTATGATTTATACAGACACTCAGCCTACTCCTCAAACAGGACN
|
pathogenic
| 5,605 |
Regarding the variant found on chromosome 1 at position 23868279 in gene FUCA1 (alpha-L-fucosidase 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Fucosidosis']
|
GAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTTTACCAAGCCTACATAAATTGCCTCTCATTTATTATAGAGGTGACAAAAGACCCAATAACTGGGAGAAAAGGCAAGTGTTGAAATAACAACCAAATCACTCAATATTTAATTTGCTTTTATGGCACAAAAATAGGTAATGCACTTTATGGTTCAATCATTGGCCAGAGTAGGGAACTCCAGGATTTGAAGGGCCAGATAGTATTTTAGGCTCTGTGGGAGCACATTCCTCTCTGTAGTGTATTCTTCTTTAAAACATTTTACAACCCTTTAAAAATGTAAAAACCATTCTCACCTCATGGGCCTTAAAAAACTGGCAGAGGACCAATCCCTCTGGCCAGTTTGCAGACCCTGGTGCAGTGGAAACAACCTTGACGTCATGAGACCTGGAGTCTAGGACATTATATTCCTTCCTCTCTTTGGGCCAGTCATCTCATCCATGAAATAAAAGGCATGGAAAGAGGTTATCTCCCAGATTTTAATTTTTCTCACTTGTAAGTTATGGATCCCTAAGGCCCCTAGGAGACAAACACTTCCTCTGCTTAATCAAGTCTTATACTCCCATACATTTAATGGCAAACACTAAATGCCAGTTGTAACTTCTCTTTAGTACAAGTGAATTCAAAGTTCAAGAGAAACGAAAACCCGGAAGATGGCTGAGGAACCAAGGTAAGGATGGAAGACTGCTCTAAGCCAGGGGCTGGGGAAACCTCCCCGCCTCCATTTTTACTCTTCTCCAACCCACTTCTCTCCCAGCAGCCGAATGAATCTTTCTAGAAGCTGATAGTAACCACTCCCTGACTTAACATCTGTCAATACAGGGCTCTCAAGGCTCACTCCTTCAGGACAAGCCCCTGCCTTGACAACTTCATGGGTCGTGGTCTCCCCTTATCCCCACCCCAGCGCTCTCTACTCTGTTCTCTGAACCAGCCACCCCCAAGTTCCAACAGTTCTCAGAGAGAGTCAGACCCTTCCTGGACACTTCCTACGTAAAAGGGATTGAGAGGAGCAAACGAATGACTATCTGTACTGTTGCCCAAATACACTGCACACCAGAACTCCCCTCTCTTTCCCTCTTAGAGACATTAGGGCTCAAAGGGTTGTATCCTTATATAACCCCTTTCTACAACCATAGAAGAGGCTGCAGGGAGGCTGAAGTGACATGTCCAGGTTCACAGTTGAATTAGAACCAGGCTCCACACCACTGATTTGAAACCCTGGAGTCCTGATAGTGCTGTCAATCTGAAAGGGACATCAGGTATGGCCTAACTCAGCCCTCTCGGTGCACAGGTGCAGATACCCAGGGCTTCCCAGCCTGCCATCTCCCTGAACCTTCATTTATCAGTCCCCAGTCAAACGCACCTCCTCCTCCTCATCAGGTGTGCCAGGCTCACTCCTGTGGCCGCAGGAGGCCACACGCGGGCCCCGGGGTCATGGGGGCGACCGGCAGCTGCGCGCCCCAGCTGGCCGCCCAGCCCCACCTCCTGTTTGCCGCCCGAGCCGGGAAGGGGCGCCGCTCCCCGGGACCACACTCACTTGGCGCCCGCGGCCTGGAAGAGGTCGGCCCACTCCTCCGGGTGGAAGAAGCGCGCAGTGAACTGCGGTCCGAAGTCGGCGTAGCTGAAGCCGGGCGGGTAGTTGTCGCGCATGAAGCGCTGGTACTGCGGCCGCCCCTCGCCCTGCCAGTGCCACCAGAACCACTCGCTGCCCCAGGCGGGCACCGAGAACACGCCCCAGTGGATGAACACCCCGAACTTGGCTTCGTCGAACCAGGCCGGCAGCGGCCGAGAATCCAGGCTCGGCCAGTCTGGGGTGTAGCGGCGCGGAGGCTGGGCCCGACGCACCGACTCGGCCGCTCCGAGGAAGAGCAGCAGCAGCAACAGCGCGGGACCCGCCGGCCGCGACCTCATCCCCGGAGCCCGCATCGCTACCCCTCAGCGACGCGGCCCACTCTTAACGCGCAGGTGCCCGCGGGCGGCTCCGCCCACTCTGACTAACGATTGGCCCGGAAGGAAAAAGGGGTGGGACAACCTGGACAGGTTGGCCCGAGTCGCTTCCTCCTCGGGTCGGAGGAGCGCCCTCTGGTGCTCAAGAAGGGAAAGACGCAGGGAGGCGTTGACAGCGCTTCGCTGAAGGACGAATAAAAACCTTGAAAAGGGACTTAACTGCGAGGTTAAATCGTGGAGGTGAGCAAGGCCCAGTGTGTGCGGAGAACTCACATTTAAGAAGGAGTCCATTGAGCCGGACGCAGTGGCTCACGCCTGTAATCCTAACACTTTCGGAAGTCGAGGCGGGAGGATCGCTCTGAGCCCACAAGTTGGAGACTAGCCTGTCTCTATAAAAAATAAACAAAATGAGCCTGGCGTAGTGGTGCACGTCTGGAGTCCCAGCTACTCGAGAGGCTGAGGTGGGAGGTTCGGGATCGCTTGAGCCCGGGAAGTCTGGGCTGCAGTGAACCGAACCGTGATCACGCCTCTGGGAGTAGTCCATTTTGCCGCAGCAATCCTGCAGGGGTAGGCTGAAGTGAGATCACGAGTTTTATTTAGTGATCACTTGGGAGCCATAGGGGGCTTTTGAGTTGTCCTGTAGCACAAGGCTGGAGGAGGAGATAACAGACCGGAAGGGTATCTAACAGCCCTGACAGAAATAAGGAGGTAGAGGGATGATGGGAAGAAACGTTATGAAAGGAGAGGAAAGAGAAAACTGGGTACTGAAAGAGGGAGAGCGGGCAGGACCGTTTCATCTGTCTGGTATTTACTGAGCTTTCTTTGGGAATTCCGAGGCATTTCAAATAGCTTAGTTTGTACCGAGATACCGCCACTGCACTCCAGCCCCTGGGCGACAGAGCCAGACCAAGGAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAAGGAGGAAGTGGAGAGCCAAGAGGACCCAGGATTGCCTGGCAGGGAAGTTCCCCAGTTCCTCTGCAATTTGCACATGCTGCACATACTCAAACGGGAGGTGAGGCCATTAGCGAGGGAAATACGGAAGTCAGAAGTCTCTGAACAGACAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCGGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGGAAGAAGAAGTCTCATGACTCCACGTAGCACACTCAGTTCCCACATGCCAGTGAGAGAATGGCAGCACATCAGAGTTGGGACTTTGAAGATCCTAGGCACCATCCTCTTCCCTACCCTTCCCATTGTACCGAGGAGGGAACTGAAGCCCAGAGAGGGCTGGGGGGCTGCCCAAGATCATGCAGCTAGTTTGAGTCAGAGGTGGGACTAGAATACGTGTCTCCAGGTGCAAAATCTATGCCTTTGTTCATGCTGCTTCTTTCTTGCACCTCATGAGAAGTCAGAGCCTATGTTGACAGAACCCAGCACTTCCTCACTCTGGCAGTGACAAGGAGAGAAAATGACTATTGCTGAATCACAGCTGTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTGAGATGCAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGCTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTACGCCACCACGCCTGGCTAATTTTTGTATTTTTAATACAGATGGGGTTTCGCCGTGTTGGCCAGGCTGGTCTCGAAC
|
GAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTTTACCAAGCCTACATAAATTGCCTCTCATTTATTATAGAGGTGACAAAAGACCCAATAACTGGGAGAAAAGGCAAGTGTTGAAATAACAACCAAATCACTCAATATTTAATTTGCTTTTATGGCACAAAAATAGGTAATGCACTTTATGGTTCAATCATTGGCCAGAGTAGGGAACTCCAGGATTTGAAGGGCCAGATAGTATTTTAGGCTCTGTGGGAGCACATTCCTCTCTGTAGTGTATTCTTCTTTAAAACATTTTACAACCCTTTAAAAATGTAAAAACCATTCTCACCTCATGGGCCTTAAAAAACTGGCAGAGGACCAATCCCTCTGGCCAGTTTGCAGACCCTGGTGCAGTGGAAACAACCTTGACGTCATGAGACCTGGAGTCTAGGACATTATATTCCTTCCTCTCTTTGGGCCAGTCATCTCATCCATGAAATAAAAGGCATGGAAAGAGGTTATCTCCCAGATTTTAATTTTTCTCACTTGTAAGTTATGGATCCCTAAGGCCCCTAGGAGACAAACACTTCCTCTGCTTAATCAAGTCTTATACTCCCATACATTTAATGGCAAACACTAAATGCCAGTTGTAACTTCTCTTTAGTACAAGTGAATTCAAAGTTCAAGAGAAACGAAAACCCGGAAGATGGCTGAGGAACCAAGGTAAGGATGGAAGACTGCTCTAAGCCAGGGGCTGGGGAAACCTCCCCGCCTCCATTTTTACTCTTCTCCAACCCACTTCTCTCCCAGCAGCCGAATGAATCTTTCTAGAAGCTGATAGTAACCACTCCCTGACTTAACATCTGTCAATACAGGGCTCTCAAGGCTCACTCCTTCAGGACAAGCCCCTGCCTTGACAACTTCATGGGTCGTGGTCTCCCCTTATCCCCACCCCAGCGCTCTCTACTCTGTTCTCTGAACCAGCCACCCCCAAGTTCCAACAGTTCTCAGAGAGAGTCAGACCCTTCCTGGACACTTCCTACGTAAAAGGGATTGAGAGGAGCAAACGAATGACTATCTGTACTGTTGCCCAAATACACTGCACACCAGAACTCCCCTCTCTTTCCCTCTTAGAGACATTAGGGCTCAAAGGGTTGTATCCTTATATAACCCCTTTCTACAACCATAGAAGAGGCTGCAGGGAGGCTGAAGTGACATGTCCAGGTTCACAGTTGAATTAGAACCAGGCTCCACACCACTGATTTGAAACCCTGGAGTCCTGATAGTGCTGTCAATCTGAAAGGGACATCAGGTATGGCCTAACTCAGCCCTCTCGGTGCACAGGTGCAGATACCCAGGGCTTCCCAGCCTGCCATCTCCCTGAACCTTCATTTATCAGTCCCCAGTCAAACGCACCTCCTCCTCCTCATCAGGTGTGCCAGGCTCACTCCTGTGGCCGCAGGAGGCCACACGCGGGCCCCGGGGTCATGGGGGCGACCGGCAGCTGCGCGCCCCAGCTGGCCGCCCAGCCCCACCTCCTGTTTGCCGCCCGAGCCGGGAAGGGGCGCCGCTCCCCGGGACCACACTCACTTGGCGCCCGCGGCCTGGAAGAGGTCGGCCCACTCCTCCGGGTGGAAGAAGCGCGCAGTGAACTGCGGTCCGAAGTCGGCGTAGCTGAAGCCGGGCGGGTAGTTGTCGCGCATGAAGCGCTGGTACTGCGGCCGCCCCTCGCCCTGCCAGTGCCACCAGAACCACTCGCTGCCCCAGGCGGGCACCGAGAACACGCCCCAGTGGATGAACACCCCGAACTTGGCTTCGTCGAACCAGGCCGGCAGCGGCCGAGAATCCAGGCTCGGCCAGTCTGGGGTGTAGCGGCGCGGAGGCTGGGCCCGACGCACCGACTCGGCCGCTCCGAGGAAGAGCAGCAGCAGCAACAGCGCGGGACCCGCCGGCCGCGACCTCATCCCCGGAGCCGCATCGCTACCCCTCAGCGACGCGGCCCACTCTTAACGCGCAGGTGCCCGCGGGCGGCTCCGCCCACTCTGACTAACGATTGGCCCGGAAGGAAAAAGGGGTGGGACAACCTGGACAGGTTGGCCCGAGTCGCTTCCTCCTCGGGTCGGAGGAGCGCCCTCTGGTGCTCAAGAAGGGAAAGACGCAGGGAGGCGTTGACAGCGCTTCGCTGAAGGACGAATAAAAACCTTGAAAAGGGACTTAACTGCGAGGTTAAATCGTGGAGGTGAGCAAGGCCCAGTGTGTGCGGAGAACTCACATTTAAGAAGGAGTCCATTGAGCCGGACGCAGTGGCTCACGCCTGTAATCCTAACACTTTCGGAAGTCGAGGCGGGAGGATCGCTCTGAGCCCACAAGTTGGAGACTAGCCTGTCTCTATAAAAAATAAACAAAATGAGCCTGGCGTAGTGGTGCACGTCTGGAGTCCCAGCTACTCGAGAGGCTGAGGTGGGAGGTTCGGGATCGCTTGAGCCCGGGAAGTCTGGGCTGCAGTGAACCGAACCGTGATCACGCCTCTGGGAGTAGTCCATTTTGCCGCAGCAATCCTGCAGGGGTAGGCTGAAGTGAGATCACGAGTTTTATTTAGTGATCACTTGGGAGCCATAGGGGGCTTTTGAGTTGTCCTGTAGCACAAGGCTGGAGGAGGAGATAACAGACCGGAAGGGTATCTAACAGCCCTGACAGAAATAAGGAGGTAGAGGGATGATGGGAAGAAACGTTATGAAAGGAGAGGAAAGAGAAAACTGGGTACTGAAAGAGGGAGAGCGGGCAGGACCGTTTCATCTGTCTGGTATTTACTGAGCTTTCTTTGGGAATTCCGAGGCATTTCAAATAGCTTAGTTTGTACCGAGATACCGCCACTGCACTCCAGCCCCTGGGCGACAGAGCCAGACCAAGGAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAAGGAGGAAGTGGAGAGCCAAGAGGACCCAGGATTGCCTGGCAGGGAAGTTCCCCAGTTCCTCTGCAATTTGCACATGCTGCACATACTCAAACGGGAGGTGAGGCCATTAGCGAGGGAAATACGGAAGTCAGAAGTCTCTGAACAGACAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGGGTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCGGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAGGAAGAAGAAGTCTCATGACTCCACGTAGCACACTCAGTTCCCACATGCCAGTGAGAGAATGGCAGCACATCAGAGTTGGGACTTTGAAGATCCTAGGCACCATCCTCTTCCCTACCCTTCCCATTGTACCGAGGAGGGAACTGAAGCCCAGAGAGGGCTGGGGGGCTGCCCAAGATCATGCAGCTAGTTTGAGTCAGAGGTGGGACTAGAATACGTGTCTCCAGGTGCAAAATCTATGCCTTTGTTCATGCTGCTTCTTTCTTGCACCTCATGAGAAGTCAGAGCCTATGTTGACAGAACCCAGCACTTCCTCACTCTGGCAGTGACAAGGAGAGAAAATGACTATTGCTGAATCACAGCTGTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTGAGATGCAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGCTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTACGCCACCACGCCTGGCTAATTTTTGTATTTTTAATACAGATGGGGTTTCGCCGTGTTGGCCAGGCTGGTCTCGAACN
|
pathogenic
| 5,619 |
A genetic variant at chromosome 1, position 25543762, affecting gene LDLRAP1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4']
|
AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATTG
|
AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATT
|
pathogenic
| 5,687 |
Is the genetic mutation found on chromosome 1 at position 25543762, within the gene LDLRAP1, considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4']
|
AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATTG
|
AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATTGN
|
pathogenic
| 5,688 |
Determine if the mutation at chromosome 1, position 25543803 in gene LDLRAP1 is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
TTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATTGCGTTTGCCTGGCATAGAGGAGGAGTTTGGTAAATGGTAACT
|
TTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGAGGACTGCTGGCTTCTGAGCCAGGAGTAATTACAGAGGTTGAAGTTGGCCTTGCCTGAGGCACCCCCTTCTAAAAGAAGCCAGGCTGTGGCTTGGATGTGTGTGTCCTCCCTCTGGCTCCTTTTGGCACAGTTTGAAAGGAAGGCATGGCATCCTAGAGAGTTAGAACAAATCCTTCCAATCCTGGAGTTAGAACATCTGTGCCTGAGCAATTCTGGGGTTCAGACTGCCCTCCGAATGCTCCTAGGAAGCAGCTTGGGGTCAGGGTCAAGGTCATGCAGATTCTTGACCCTGGCAGGTTGGAAGGATCACTAGAGATAGCATTGACTCTCATTCACAGATAAACAAGACTCAGAGAGGGGAAGTACTTGCCTGAGGTCACACAGCAAGTCAGTGTCAGGGGCACGTTCCAGATCATACCATCTGTGAGGCTACCTGGGAAGTTGCGGGGGCATGGGGTGGCCCAGCATGCTCAGGTGGTGCCAGGGAGCAGCCTGGGAGCTACGAGGATGAGTAAAGTGCCTGGCTGGACTTGCTAAAGGCAAATTTTTATATACCGACCCTGCGCCTAACAAGGGTCTATACTGCAAGCTTGTCCAACCTGTGGCCCACTGGCCATGTGAGGTCCAGGACGGCTTTGAATGGAGCCCAACACAAATTGGTAAAGGTTCTTAAAACATTATGAGATTTTTTTGGGCAGGGTGTGGTGGCTCACAGCCATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTATTAATAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATAGCTTGAACCCGGGAGGTAGAGGTTGCAGTGACCCGAGATCGCACCACTGCACTCCAACCTGGGCAACAGAGTGAAACTCTGTCTCAGGGGAAAAAAAACAATACAGAAAAACAAAAAACATGAGTGTGTGTGTATATATATATATTTCAGCTCATCAGCTGTCGTTAGTGTTAGTGTATTTCATGTGTGGCCCAAGACACTTCTTCTTCCAATGTGGCCTAAGGAAGCCAAAAGTTTGGATATCCCTGGCTTACAGCCTCCACTATTTCCTAAGTCTCCCACTGCCCTGGACATCGCATTGCTTTTGTCCCTGAACAAGATCTTTCACCACTGGAGGAGCCCTCAGTCTCCCCATCTGTAAAATGGTCACTGGAAATCCTAGGCCGCTGCTCTCAGGCCCTCAGGCCCCTACGGGGTGGGGATTGGGGAAAAGGAGGAAAGCGGGGGCGTCTAGGGCTTGCGATTTGCTATCTTCTGGCGCCTTCGGGCGGCCTCGGAAACTCTTGGTGCCTGGACCTGGAGCCTGGACAGGGACCGGGCGGGGCGAGACCGGCCGTCGGGGGCGCGGCCCGTCTGGGGGCGGGGCCTGTCCTCTCTCGCCCCGCCCCGTCGGACGCCGCGGCGGAGCTGGCGCTGGGAGGGGAGGAGCGCGCAGCCCGCGCGCCGCAGGGCCGGGCGGAAAGTTTTTCCTGACGGAGTTTTGGCTGCGGCAGCGGCGGCGGCGGCCGGAGCGGGCCATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAGTGAGTGTGCGCGCGTCAGCCGAGCCGGGCCGGGCCGGGATCGGGCAGAGGCGCGCGGGGCCTCCGCGGGCGCCCGGAGTGCGGCCAAGTTGGGCAGAGGCGGGGCCTCACCGGCGCTCCGGTCCCGGCGTGGCCCTTTCCCGGCCCTGCGGGGCAGGGGGTCGGCCGGGGTCAAGTTGTGCACCTACTCGCCGGCCGCTCGATGCCGCTGCGAGGAGGGGCAGCGCTGAGGAAGGAGCCCGAGCTCGGGGTCCTCAGGTGCAGCCGGCATGGGGTGGGGTGCAGGTTGGGAGAAGAGGCCCCCGCCACCCGCGGCACCTCCCGCCCTGCTGTCCTGGCCAGCTAGGGGGAGGCAGGCGCTCGTCGTCGGTGCCTAGGGGAGGAGGAGAGGGCGCAGGGGCTTGGGAAGACGCCCCCGTCCCGCACCCCTGCGCCCCAGCCAGCAGCTGCGGCGGTCAGGAGCCCACTGGCCCGTTCTCCCGCCCCCTGCCCGACCCACCGGGCCAACTTTTGACTCCGGGTGCCCAGACACCCATCCAGGTGTGAGCCCGGGGTCGCAGGTACGTACTTGAAATTGGGAACGAGGCCCCGCCTGGGGTGCCTCGGGAGAGCCCCACATCAGGCGATCTAGACCCTTACGTCCCTTCCTCTAGCCGGGTCCAGGTGGCAAGCCTGGCGTCCCGACTATTTTTGAAACCTGTTTTCTCTCGCACCTTTCCCCTCGGGCTTCCAGAGTCCCTTGGGTGCCCAGGCAAACGACAGACTCGCCGCCACCTCTCCCTGGGGCGTCTGGGAGGCTGGGAGGGGCCTCCCCCCCTTTCTCTCCCCCAGTCTCTGATTACGCTCAGGGAACTTGTCACCTGGCACCTTCCCCTGAAGCCAGAAGACCCAGCCTAGCGCAGGTCTCGTTGTTTGGGAGGGAGAAGAGAGTGGCTTGCCTGGGGTCACACACACCTTCCTGCTGGTTTTGGAGCCAGAGCCCAGGACTGCTGCACACTCCCACCTCCCTGCCACCTACTTCGGGCCACAGCTTCTCCCCTCATCAGGAAACAACTGACAGTACAGCACCCCCTCATCCCATCCCCTCTTGGCCTTACAGGGCTCTGCCAGGGGAGCCCGAGCTCCCTGGTCCAAGGAGTGCCAGCGTGTCTGGGCCTAGAGGGCCCGCCTCCCTCCTCCTCTGGCCCCACTCTGTTGTTCAGCTGTGGCCGCCTCCCAGCTGAGACTGGCATTGGCATTGGGAATGTGGGGTGGTGCCTGCTGGTGGGGGGTGGGGTCAGAGACCCATTAGGGCTGGGCCACTAGGCCAGGGGATGTACCGTTTATCACACTGATTGCATCCCAAAATAGACCCTTTAAAAACTGGCAAGATTTGACCAGGACTTCTGAGATGGCCATCTGTTCCAGTGGGAGAATCCTGCGGGTTTTCTCCAGGAATGAGGGAGGGAGGGTGGTGGGGCAGCCCCCAGGGAAGTGGTTTTGAAGGAAGGGGGGCTGGCAAGGGAAGGGAGGCTAGAAAGAAATATCTCTGAATCTGGGGACGTGGAAGAGGTAGCCGCTTTGGATGTGGAAGAGAATTTCTCTTGCCATCTTCAATCTTGAGCAAGTCACTTGTCCTTTCTGATCCTCGGTTTCCTCATCTGCAACATGGGGATAAAAACTCTTACCTGGCAGGAGTATCAAGGAGATTATTGGTAATAATGCTCCCTCCTAACTGGTGGCTTTCTTCTCCCCTGCTCCTCTTCCCCCTGCCTATCCTTGGGACGCTGCCAGCATGATTAGTACTGTGGTGAGATGGGTTTTGGGGGCCCCGAGCCTGTCTGCACCTTTGGAGGAAAGGAGAGGAGCACCTCTCCCCCTCCTCCAGGCCCTGGTAAGCCCAAAGTGCTGTCCTGGAGCCTCTGGATCTGAAGGAGGGCAGGCCGAGCCCCACCTGTCCCTCGTGATGAAGTCTCAATTTCCTCACCTGTAAATTGCAAATAACAGTAGTACCTGCCTCCAGCTGTTTGTGGGGATCAAGTGGAATTGCGTTTGCCTGGCATAGAGGAGGAGTTTGGTAAATGG
|
benign
| 5,692 |
Is the variant located on chromosome 1 at position 25553942, gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Hypercholesterolemia,_familial,_4']
|
AGGTTCTAGATGACAGTCAGTAAGTCCCTGCTCACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTCTGCTCTTGACAGAGCCGGAACTCCAGAACCAAGCTGAGCCTTGTAGTAGGGGCCCACATCCCTGCCAGAGCCTCAGCTGCCCTGGAACTAGCAATACCCAAACTTTCTTCCTGTGGCTTTTCAATCAGAGCCAGTGAGGAAGGCCTCAGGAGGAGGTAGGGAGGGCCCAGGACATCTCCCAGCCCCTCCCTGGGGGATGGTCTAGGGAAGCTGGCCCTGGCTACCTCTCGTGGCCCCTGGAAGCTGATTCCTGGCTGGATCCTGCTCTGTCCTCAACAAGATTGTGTGTGAGGCTGAAGAGCAGTTTTCTTTCTCATCTGTAAAATGGTGCAGTCATAACAAACACCTCCTACAAGCACAGCATCTGTGAGGGTTTCCTCTCTGTAAAATGGGACAGAGAGGTAGGGGACAGGAAGGGGCTCTGGCAGGTGGAAGTGTGAGGTGTTCATTCATCTTTCTTCATGTCCTCCTTCCGAGGAGCCGGGGATGGTCAGAAACTGTCAGTGCAGCCTGCTTTTGCCCTCATGCCCATTTGCCTCCACGGGGCCCTCACCTACGTGGTGGGGCGCTCTTTCCACGTGTCCCTCCTGGTCCATTTGCCCACCCAGTGAGGCAGGCTCATCCCCTTATTTCCTGACATTTGTGTGGTTGGTGCTTTTAGAGAACTCTCCTTGTGGACTCTGTTCTGCACCATTGTCACAGCCCAGAGAGGGGGGAATGTTAGTCCCAAAGAGGAGAGGGGACTTCCCTAGGACCATCCAGGGGGTGGGAAGCAGAGTGGGTCTCGAACCTTCTCCGATTTGGGAAATCGCCTTCTCCTCTCCCCACCCACCCTTACCCTTCCCTGCTCTCCCTGGGCTACTGTCTCCTGCCCAGCCTCCCACATGCCCCTGTTGGTCTCTACGGATGCGCACAGGGAGGAAAGCAGTGCAGGCTGGGGCCATGGGAACCGCTCAGGGTTGAAGTCCGACTCATTGTATGTGGCCTTCATCTCATGACTTTGCCTCCCTGAGCCTCAGTCTCCTAATCTGTAGAATCATTGTCTCACAGGATTGCACTAAGGATTCAGTAAGAAATGGTATGATTTGCCCTCAGCAAGTGGTAGCATTGAAGTAAAGAGGGCTCAGGGCTTGAAAATAGGGCTCGAAACTTGGCTCTTGCACTTCCTGGCTCTCTGGACTTGGTTATGTGATTGAGCCTCCATGGCCTCCGTGTCTTTGTCTGTCAATGGGTTTGATTAAAGCGTTGACCTCATAGGTTCTTAGGAGGATTAATGAGAACATTTTATGTAAAGCTGCTTACATGGAGCCTTGGTATGTGCCGGAAAGCTTTAGCCCTTTATTAAAAGTGACAGCAGACCCAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACCAGCTACTCGGGAGGCAGAGGCAGGAGAATCGCTTGAACCTGGGGTGCAGAGGTTGCAGTAAGCTGAGCTCGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAGAGTGGCAGTAGTGGTGGGGGAGACCCCCATCCCCCTTGCTGGGGTTTCCTAGGAAAGAAGGCTGGTGAGAGCTGTTGCTGGTGGTGGGCCCTGAGCCGCAGGGTCTGAGGGCCTACCCTGTGCTACCCCAGAGCTGCCTGAGAACTGGACAGACACGCGGGAGACGCTGCTGGAGGGGATGCTGTTCAGCCTCAAGTACCTGGGCATGACGCTAGTGGAGCAGCCCAAGGGTGAGGAGCTGTCGGCCGCCGCCATCAAGAGGATCGTGGCTACAGTGAGCACCCCAGTCAGGAAGGGTGGGGGAACCAGGGACCAAGGACCAGCTTCTTCCCAGGGTGCCCTCGTCCCAGCTTGTTACTCCAGTTGGGTGTGTCTGAGCCTGGCCCTGCCCTTCATTCTCCTTCCATCCAGCTTTTGGGCCTTGGCAGAGGGGAACCATTGGACTTGCAAGGTCACGGTTAGTGGCTTCCCTCCAGCCATTATGGCCTCTTCCAGCCTCCCCACCCCCAGCTCAGGCTCCCTACCAATGCATTGGTGACTTATCAGCACCAGGAAGGGTGGGGAGTTTGCTTTCCCTTGACTACCTGCCCAATGGCCTGAGAGACAGCATAGCCCATCAGAGAGCAGATTGCCCCCTCCCTAACTTTGAGCAAGGGTGGGCCTTTTAAATCCACTTCCCTTGGTGGCCTCAGACCCCTCAGCTCAATGGATGGAGCAGAGTACTCAGGAGTCATCCTGCTGGGTTGTGCTAGCTCATTCAGTGCCGAGTCTGCAGGCCCTTCTAGCTGTGTGTCCTTGGGTAAGTCCCTTAGCCTCTCTGAGTCCATCTCTGGGGAGAGGGAGGATGACTCCAGGTCCACGGTGCCTGACAGATAGCTGGTGCTCAGCAGATGCTGCTCCTGTTTCTATTGCAAGAAGGTGCTGGCTGAGTGGTCTTGCCCACACTGCTGCCAGTCACCTGAGCTGAGATGGGCCCCGTGCCTGGGGCTTAGGAACAGTGAAGTGTAAGCCATGAGGGTGGGTCTCAAGTGAGGCTGGCAGACTCCTCTGACTCCTGTCTGCTCCCAAGGCTAAGGCCAGTGGGAAGAAGCTGCAGAAGGTGACTCTGAAGGTGTCGCCACGGGGAATTATCCTGACAGACAACCTCACCAACCAGCTCATTGAGAACGTGTCCATATACAGGTACGCTCAGCATGGGGTTGGCCCATCCACTCTGCCACTTGGGGCAGTGGGTGGAGTATCCCATCTGAATCCAGGCTCTACCACTTCCTACCTGGGTGACATTGGAGCCTCAGTTTCCTCATCTGTAAAATGGGGGTGGGAACAGATCCTGCTGCACAGCGCTGTTAGGAAACGTGGAGTGCACGGCACCTGGCTCATGATGAGCATTTGGTTAAGTGGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGC
|
AGGTTCTAGATGACAGTCAGTAAGTCCCTGCTCACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTCTGCTCTTGACAGAGCCGGAACTCCAGAACCAAGCTGAGCCTTGTAGTAGGGGCCCACATCCCTGCCAGAGCCTCAGCTGCCCTGGAACTAGCAATACCCAAACTTTCTTCCTGTGGCTTTTCAATCAGAGCCAGTGAGGAAGGCCTCAGGAGGAGGTAGGGAGGGCCCAGGACATCTCCCAGCCCCTCCCTGGGGGATGGTCTAGGGAAGCTGGCCCTGGCTACCTCTCGTGGCCCCTGGAAGCTGATTCCTGGCTGGATCCTGCTCTGTCCTCAACAAGATTGTGTGTGAGGCTGAAGAGCAGTTTTCTTTCTCATCTGTAAAATGGTGCAGTCATAACAAACACCTCCTACAAGCACAGCATCTGTGAGGGTTTCCTCTCTGTAAAATGGGACAGAGAGGTAGGGGACAGGAAGGGGCTCTGGCAGGTGGAAGTGTGAGGTGTTCATTCATCTTTCTTCATGTCCTCCTTCCGAGGAGCCGGGGATGGTCAGAAACTGTCAGTGCAGCCTGCTTTTGCCCTCATGCCCATTTGCCTCCACGGGGCCCTCACCTACGTGGTGGGGCGCTCTTTCCACGTGTCCCTCCTGGTCCATTTGCCCACCCAGTGAGGCAGGCTCATCCCCTTATTTCCTGACATTTGTGTGGTTGGTGCTTTTAGAGAACTCTCCTTGTGGACTCTGTTCTGCACCATTGTCACAGCCCAGAGAGGGGGGAATGTTAGTCCCAAAGAGGAGAGGGGACTTCCCTAGGACCATCCAGGGGGTGGGAAGCAGAGTGGGTCTCGAACCTTCTCCGATTTGGGAAATCGCCTTCTCCTCTCCCCACCCACCCTTACCCTTCCCTGCTCTCCCTGGGCTACTGTCTCCTGCCCAGCCTCCCACATGCCCCTGTTGGTCTCTACGGATGCGCACAGGGAGGAAAGCAGTGCAGGCTGGGGCCATGGGAACCGCTCAGGGTTGAAGTCCGACTCATTGTATGTGGCCTTCATCTCATGACTTTGCCTCCCTGAGCCTCAGTCTCCTAATCTGTAGAATCATTGTCTCACAGGATTGCACTAAGGATTCAGTAAGAAATGGTATGATTTGCCCTCAGCAAGTGGTAGCATTGAAGTAAAGAGGGCTCAGGGCTTGAAAATAGGGCTCGAAACTTGGCTCTTGCACTTCCTGGCTCTCTGGACTTGGTTATGTGATTGAGCCTCCATGGCCTCCGTGTCTTTGTCTGTCAATGGGTTTGATTAAAGCGTTGACCTCATAGGTTCTTAGGAGGATTAATGAGAACATTTTATGTAAAGCTGCTTACATGGAGCCTTGGTATGTGCCGGAAAGCTTTAGCCCTTTATTAAAAGTGACAGCAGACCCAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACCAGCTACTCGGGAGGCAGAGGCAGGAGAATCGCTTGAACCTGGGGTGCAGAGGTTGCAGTAAGCTGAGCTCGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAGAGTGGCAGTAGTGGTGGGGGAGACCCCCATCCCCCTTGCTGGGGTTTCCTAGGAAAGAAGGCTGGTGAGAGCTGTTGCTGGTGGTGGGCCCTGAGCCGCAGGGTCTGAGGGCCTACCCTGTGCTACCCCAGAGCTGCCTGAGAACTGGACAGACGCGGGAGACGCTGCTGGAGGGGATGCTGTTCAGCCTCAAGTACCTGGGCATGACGCTAGTGGAGCAGCCCAAGGGTGAGGAGCTGTCGGCCGCCGCCATCAAGAGGATCGTGGCTACAGTGAGCACCCCAGTCAGGAAGGGTGGGGGAACCAGGGACCAAGGACCAGCTTCTTCCCAGGGTGCCCTCGTCCCAGCTTGTTACTCCAGTTGGGTGTGTCTGAGCCTGGCCCTGCCCTTCATTCTCCTTCCATCCAGCTTTTGGGCCTTGGCAGAGGGGAACCATTGGACTTGCAAGGTCACGGTTAGTGGCTTCCCTCCAGCCATTATGGCCTCTTCCAGCCTCCCCACCCCCAGCTCAGGCTCCCTACCAATGCATTGGTGACTTATCAGCACCAGGAAGGGTGGGGAGTTTGCTTTCCCTTGACTACCTGCCCAATGGCCTGAGAGACAGCATAGCCCATCAGAGAGCAGATTGCCCCCTCCCTAACTTTGAGCAAGGGTGGGCCTTTTAAATCCACTTCCCTTGGTGGCCTCAGACCCCTCAGCTCAATGGATGGAGCAGAGTACTCAGGAGTCATCCTGCTGGGTTGTGCTAGCTCATTCAGTGCCGAGTCTGCAGGCCCTTCTAGCTGTGTGTCCTTGGGTAAGTCCCTTAGCCTCTCTGAGTCCATCTCTGGGGAGAGGGAGGATGACTCCAGGTCCACGGTGCCTGACAGATAGCTGGTGCTCAGCAGATGCTGCTCCTGTTTCTATTGCAAGAAGGTGCTGGCTGAGTGGTCTTGCCCACACTGCTGCCAGTCACCTGAGCTGAGATGGGCCCCGTGCCTGGGGCTTAGGAACAGTGAAGTGTAAGCCATGAGGGTGGGTCTCAAGTGAGGCTGGCAGACTCCTCTGACTCCTGTCTGCTCCCAAGGCTAAGGCCAGTGGGAAGAAGCTGCAGAAGGTGACTCTGAAGGTGTCGCCACGGGGAATTATCCTGACAGACAACCTCACCAACCAGCTCATTGAGAACGTGTCCATATACAGGTACGCTCAGCATGGGGTTGGCCCATCCACTCTGCCACTTGGGGCAGTGGGTGGAGTATCCCATCTGAATCCAGGCTCTACCACTTCCTACCTGGGTGACATTGGAGCCTCAGTTTCCTCATCTGTAAAATGGGGGTGGGAACAGATCCTGCTGCACAGCGCTGTTAGGAAACGTGGAGTGCACGGCACCTGGCTCATGATGAGCATTTGGTTAAGTGGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGCNN
|
pathogenic
| 5,696 |
Variant at chromosome 1, position 25553974, gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Hypercholesterolemia,_familial,_4']
|
CACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTCTGCTCTTGACAGAGCCGGAACTCCAGAACCAAGCTGAGCCTTGTAGTAGGGGCCCACATCCCTGCCAGAGCCTCAGCTGCCCTGGAACTAGCAATACCCAAACTTTCTTCCTGTGGCTTTTCAATCAGAGCCAGTGAGGAAGGCCTCAGGAGGAGGTAGGGAGGGCCCAGGACATCTCCCAGCCCCTCCCTGGGGGATGGTCTAGGGAAGCTGGCCCTGGCTACCTCTCGTGGCCCCTGGAAGCTGATTCCTGGCTGGATCCTGCTCTGTCCTCAACAAGATTGTGTGTGAGGCTGAAGAGCAGTTTTCTTTCTCATCTGTAAAATGGTGCAGTCATAACAAACACCTCCTACAAGCACAGCATCTGTGAGGGTTTCCTCTCTGTAAAATGGGACAGAGAGGTAGGGGACAGGAAGGGGCTCTGGCAGGTGGAAGTGTGAGGTGTTCATTCATCTTTCTTCATGTCCTCCTTCCGAGGAGCCGGGGATGGTCAGAAACTGTCAGTGCAGCCTGCTTTTGCCCTCATGCCCATTTGCCTCCACGGGGCCCTCACCTACGTGGTGGGGCGCTCTTTCCACGTGTCCCTCCTGGTCCATTTGCCCACCCAGTGAGGCAGGCTCATCCCCTTATTTCCTGACATTTGTGTGGTTGGTGCTTTTAGAGAACTCTCCTTGTGGACTCTGTTCTGCACCATTGTCACAGCCCAGAGAGGGGGGAATGTTAGTCCCAAAGAGGAGAGGGGACTTCCCTAGGACCATCCAGGGGGTGGGAAGCAGAGTGGGTCTCGAACCTTCTCCGATTTGGGAAATCGCCTTCTCCTCTCCCCACCCACCCTTACCCTTCCCTGCTCTCCCTGGGCTACTGTCTCCTGCCCAGCCTCCCACATGCCCCTGTTGGTCTCTACGGATGCGCACAGGGAGGAAAGCAGTGCAGGCTGGGGCCATGGGAACCGCTCAGGGTTGAAGTCCGACTCATTGTATGTGGCCTTCATCTCATGACTTTGCCTCCCTGAGCCTCAGTCTCCTAATCTGTAGAATCATTGTCTCACAGGATTGCACTAAGGATTCAGTAAGAAATGGTATGATTTGCCCTCAGCAAGTGGTAGCATTGAAGTAAAGAGGGCTCAGGGCTTGAAAATAGGGCTCGAAACTTGGCTCTTGCACTTCCTGGCTCTCTGGACTTGGTTATGTGATTGAGCCTCCATGGCCTCCGTGTCTTTGTCTGTCAATGGGTTTGATTAAAGCGTTGACCTCATAGGTTCTTAGGAGGATTAATGAGAACATTTTATGTAAAGCTGCTTACATGGAGCCTTGGTATGTGCCGGAAAGCTTTAGCCCTTTATTAAAAGTGACAGCAGACCCAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACCAGCTACTCGGGAGGCAGAGGCAGGAGAATCGCTTGAACCTGGGGTGCAGAGGTTGCAGTAAGCTGAGCTCGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAGAGTGGCAGTAGTGGTGGGGGAGACCCCCATCCCCCTTGCTGGGGTTTCCTAGGAAAGAAGGCTGGTGAGAGCTGTTGCTGGTGGTGGGCCCTGAGCCGCAGGGTCTGAGGGCCTACCCTGTGCTACCCCAGAGCTGCCTGAGAACTGGACAGACACGCGGGAGACGCTGCTGGAGGGGATGCTGTTCAGCCTCAAGTACCTGGGCATGACGCTAGTGGAGCAGCCCAAGGGTGAGGAGCTGTCGGCCGCCGCCATCAAGAGGATCGTGGCTACAGTGAGCACCCCAGTCAGGAAGGGTGGGGGAACCAGGGACCAAGGACCAGCTTCTTCCCAGGGTGCCCTCGTCCCAGCTTGTTACTCCAGTTGGGTGTGTCTGAGCCTGGCCCTGCCCTTCATTCTCCTTCCATCCAGCTTTTGGGCCTTGGCAGAGGGGAACCATTGGACTTGCAAGGTCACGGTTAGTGGCTTCCCTCCAGCCATTATGGCCTCTTCCAGCCTCCCCACCCCCAGCTCAGGCTCCCTACCAATGCATTGGTGACTTATCAGCACCAGGAAGGGTGGGGAGTTTGCTTTCCCTTGACTACCTGCCCAATGGCCTGAGAGACAGCATAGCCCATCAGAGAGCAGATTGCCCCCTCCCTAACTTTGAGCAAGGGTGGGCCTTTTAAATCCACTTCCCTTGGTGGCCTCAGACCCCTCAGCTCAATGGATGGAGCAGAGTACTCAGGAGTCATCCTGCTGGGTTGTGCTAGCTCATTCAGTGCCGAGTCTGCAGGCCCTTCTAGCTGTGTGTCCTTGGGTAAGTCCCTTAGCCTCTCTGAGTCCATCTCTGGGGAGAGGGAGGATGACTCCAGGTCCACGGTGCCTGACAGATAGCTGGTGCTCAGCAGATGCTGCTCCTGTTTCTATTGCAAGAAGGTGCTGGCTGAGTGGTCTTGCCCACACTGCTGCCAGTCACCTGAGCTGAGATGGGCCCCGTGCCTGGGGCTTAGGAACAGTGAAGTGTAAGCCATGAGGGTGGGTCTCAAGTGAGGCTGGCAGACTCCTCTGACTCCTGTCTGCTCCCAAGGCTAAGGCCAGTGGGAAGAAGCTGCAGAAGGTGACTCTGAAGGTGTCGCCACGGGGAATTATCCTGACAGACAACCTCACCAACCAGCTCATTGAGAACGTGTCCATATACAGGTACGCTCAGCATGGGGTTGGCCCATCCACTCTGCCACTTGGGGCAGTGGGTGGAGTATCCCATCTGAATCCAGGCTCTACCACTTCCTACCTGGGTGACATTGGAGCCTCAGTTTCCTCATCTGTAAAATGGGGGTGGGAACAGATCCTGCTGCACAGCGCTGTTAGGAAACGTGGAGTGCACGGCACCTGGCTCATGATGAGCATTTGGTTAAGTGGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGCTGGGGCTTGAAGAATAATAGGATCTAGTTTGT
|
CACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTCTGCTCTTGACAGAGCCGGAACTCCAGAACCAAGCTGAGCCTTGTAGTAGGGGCCCACATCCCTGCCAGAGCCTCAGCTGCCCTGGAACTAGCAATACCCAAACTTTCTTCCTGTGGCTTTTCAATCAGAGCCAGTGAGGAAGGCCTCAGGAGGAGGTAGGGAGGGCCCAGGACATCTCCCAGCCCCTCCCTGGGGGATGGTCTAGGGAAGCTGGCCCTGGCTACCTCTCGTGGCCCCTGGAAGCTGATTCCTGGCTGGATCCTGCTCTGTCCTCAACAAGATTGTGTGTGAGGCTGAAGAGCAGTTTTCTTTCTCATCTGTAAAATGGTGCAGTCATAACAAACACCTCCTACAAGCACAGCATCTGTGAGGGTTTCCTCTCTGTAAAATGGGACAGAGAGGTAGGGGACAGGAAGGGGCTCTGGCAGGTGGAAGTGTGAGGTGTTCATTCATCTTTCTTCATGTCCTCCTTCCGAGGAGCCGGGGATGGTCAGAAACTGTCAGTGCAGCCTGCTTTTGCCCTCATGCCCATTTGCCTCCACGGGGCCCTCACCTACGTGGTGGGGCGCTCTTTCCACGTGTCCCTCCTGGTCCATTTGCCCACCCAGTGAGGCAGGCTCATCCCCTTATTTCCTGACATTTGTGTGGTTGGTGCTTTTAGAGAACTCTCCTTGTGGACTCTGTTCTGCACCATTGTCACAGCCCAGAGAGGGGGGAATGTTAGTCCCAAAGAGGAGAGGGGACTTCCCTAGGACCATCCAGGGGGTGGGAAGCAGAGTGGGTCTCGAACCTTCTCCGATTTGGGAAATCGCCTTCTCCTCTCCCCACCCACCCTTACCCTTCCCTGCTCTCCCTGGGCTACTGTCTCCTGCCCAGCCTCCCACATGCCCCTGTTGGTCTCTACGGATGCGCACAGGGAGGAAAGCAGTGCAGGCTGGGGCCATGGGAACCGCTCAGGGTTGAAGTCCGACTCATTGTATGTGGCCTTCATCTCATGACTTTGCCTCCCTGAGCCTCAGTCTCCTAATCTGTAGAATCATTGTCTCACAGGATTGCACTAAGGATTCAGTAAGAAATGGTATGATTTGCCCTCAGCAAGTGGTAGCATTGAAGTAAAGAGGGCTCAGGGCTTGAAAATAGGGCTCGAAACTTGGCTCTTGCACTTCCTGGCTCTCTGGACTTGGTTATGTGATTGAGCCTCCATGGCCTCCGTGTCTTTGTCTGTCAATGGGTTTGATTAAAGCGTTGACCTCATAGGTTCTTAGGAGGATTAATGAGAACATTTTATGTAAAGCTGCTTACATGGAGCCTTGGTATGTGCCGGAAAGCTTTAGCCCTTTATTAAAAGTGACAGCAGACCCAGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACCAGCTACTCGGGAGGCAGAGGCAGGAGAATCGCTTGAACCTGGGGTGCAGAGGTTGCAGTAAGCTGAGCTCGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAAACTCAGTCTCAAAAAAAAAAAAAAAAAAAGAGTGGCAGTAGTGGTGGGGGAGACCCCCATCCCCCTTGCTGGGGTTTCCTAGGAAAGAAGGCTGGTGAGAGCTGTTGCTGGTGGTGGGCCCTGAGCCGCAGGGTCTGAGGGCCTACCCTGTGCTACCCCAGAGCTGCCTGAGAACTGGACAGACACGCGGGAGACGCTGCTGGAGGGGATGCTGTCAGCCTCAAGTACCTGGGCATGACGCTAGTGGAGCAGCCCAAGGGTGAGGAGCTGTCGGCCGCCGCCATCAAGAGGATCGTGGCTACAGTGAGCACCCCAGTCAGGAAGGGTGGGGGAACCAGGGACCAAGGACCAGCTTCTTCCCAGGGTGCCCTCGTCCCAGCTTGTTACTCCAGTTGGGTGTGTCTGAGCCTGGCCCTGCCCTTCATTCTCCTTCCATCCAGCTTTTGGGCCTTGGCAGAGGGGAACCATTGGACTTGCAAGGTCACGGTTAGTGGCTTCCCTCCAGCCATTATGGCCTCTTCCAGCCTCCCCACCCCCAGCTCAGGCTCCCTACCAATGCATTGGTGACTTATCAGCACCAGGAAGGGTGGGGAGTTTGCTTTCCCTTGACTACCTGCCCAATGGCCTGAGAGACAGCATAGCCCATCAGAGAGCAGATTGCCCCCTCCCTAACTTTGAGCAAGGGTGGGCCTTTTAAATCCACTTCCCTTGGTGGCCTCAGACCCCTCAGCTCAATGGATGGAGCAGAGTACTCAGGAGTCATCCTGCTGGGTTGTGCTAGCTCATTCAGTGCCGAGTCTGCAGGCCCTTCTAGCTGTGTGTCCTTGGGTAAGTCCCTTAGCCTCTCTGAGTCCATCTCTGGGGAGAGGGAGGATGACTCCAGGTCCACGGTGCCTGACAGATAGCTGGTGCTCAGCAGATGCTGCTCCTGTTTCTATTGCAAGAAGGTGCTGGCTGAGTGGTCTTGCCCACACTGCTGCCAGTCACCTGAGCTGAGATGGGCCCCGTGCCTGGGGCTTAGGAACAGTGAAGTGTAAGCCATGAGGGTGGGTCTCAAGTGAGGCTGGCAGACTCCTCTGACTCCTGTCTGCTCCCAAGGCTAAGGCCAGTGGGAAGAAGCTGCAGAAGGTGACTCTGAAGGTGTCGCCACGGGGAATTATCCTGACAGACAACCTCACCAACCAGCTCATTGAGAACGTGTCCATATACAGGTACGCTCAGCATGGGGTTGGCCCATCCACTCTGCCACTTGGGGCAGTGGGTGGAGTATCCCATCTGAATCCAGGCTCTACCACTTCCTACCTGGGTGACATTGGAGCCTCAGTTTCCTCATCTGTAAAATGGGGGTGGGAACAGATCCTGCTGCACAGCGCTGTTAGGAAACGTGGAGTGCACGGCACCTGGCTCATGATGAGCATTTGGTTAAGTGGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGCTGGGGCTTGAAGAATAATAGGATCTAGTTTGTN
|
pathogenic
| 5,701 |
Is the genetic variant on chromosome 1, position 25557238, gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Hypercholesterolemia,_familial,_4']
|
GGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGCTGGGGCTTGAAGAATAATAGGATCTAGTTTGTTGTTACCAAGGACCCAGTAACATTTAGAGCAGGAAGCTGGACCCCCTGGGATGGAGAAGAGGTAGGCAGGGACCTAACACCTTCACGCTCTGCCCACCGGGGTGTTGATGCCTGTGATTGAAGCTGGGGCCACATGGTTGAGGGGTGAGTCTATGGCGCTCCTGTCCCACCTCTGGGTTGAGGGGTGAGTCTGTGGTGCTCCTGCCCCACCTCTGGGCTACCGGCCCCTCCCCGATTGAGACTCTGAGGCTGACTGGAGGCAACGAGGAGGGACCAGACAAGTGAGGGAGGGTGGGAGGCCGAGGGCTCGGGTGGCCCCTAGGTTACAGGTGCGACTGGGGGCAGAGAGGGTGCTCCATGCAGAGGGAGTTGCTGTGTGTCTCCTCCCGGGCCCACTGGGGCTCCTTGTTGGGTCCTCGTCACACACGCACCCCACCCCTACTCCCAGCTCTTCACCCCTGGCCACAGCTCCAGAACTTGCAAGTGTCCCAGTCACCCTGAGAGAGATGGACCTGAATCTCACCAGACCTCTGGGCAGGGGCATGGATCGGAGGGCAGGTGGGGTGGGGGAGGCCAGGTGAAGGGCATTGGTGAGCAGGGGAGTGTCCTGCTTTCTGCTTCCCCTTCTGGCCAGTTGGCACACAGCCTTAAGAGGCAGCATGGCAGTCATGGCCTCTGGAGTCCTACAAGTGAGTTCAGGTCTGGGCTCAGGTCTTTAGCCTCAGTTTACTTCATCTGAAAAACATGGATAGTGATAGAACCCGTCTCAGAGGGTAGCTTTGAGAATCACATGAGGTGAGGTCTAGAAAGCTCTTGGCACATTGCCTGGTATGTGGTAAGGGTTCAGCTATTACTGTTTTGGGGTGTGGCTCAGTGTGGGATGGGAGGGAGAGGGGGAAGTGCCCTGCTTCCAGTCTTTACCCCATTCCTTCCTTCCTGCCTGGCCTGGGCCCCTCCTGCACAGATGGCCTAGGTACCCAGCCTGGAGGCCAAGGCTGGATTCCCAGAGTCTGCCCTGGTGGAGTGGGAATAGCAGGTTCTCTGCAACTCAGGGGAGCTGCCCTGCAGGGCTTCCCACATGTGCTCAGGCCCCTGTGCCAGGTCTGGTGATGCTTCCTCCTTGCCTTTCAGGATCTCCTATTGCACAGCAGACAAGATGCACGACAAGGTGTTTGCATACATCGCCCAGAGCCAGCACAACCAGAGCCTCGAGTGCCACGCCTTCCTCTGCACCAAGCGGAAGATGGTCAGCGGGGAGGGCTGGGGCGGGGACAGGGTCCAGTGGCCTTGGCAGCCTTGCTCTGGGTGGGGGGCTGTCTGGTGTGGGAGGCAGGACCCAAAGGTGACCATTACTTAAGAAGAGGGTGAAATCTCTGGGAACCCCAAGTGGGTGCCGAGAGCTAAGGGGTACAGTGGTGGGGCTGCAGGCAGGCAGGTGAACCGCCGGTCAGCTTTGTGTGGGCAGTAGCTGGCCCATGTCCCCAGTGTGTGTCTGGGCCTGTTCTCTCTGTAACGGGATTTGCTGGGTTGAGATTGTTTTGGATCTCCTGTCTTTAATATGGTCTAGGGATGCAGGGCCTTCTGGTGATTGGTCCTCGGAAATGGGAGATCAGGGGGGCCTAGGGTGGAAGGCAAAGGCGAGAGCCGTCAGAGAACCAGGCTTGCTGTGACTGGAGTGTGGAGGGCAATGGCTGTTTCTTGGTGCCTCCTGTGAGTTCATTCCAGCTGTGACCAGAGTGTGGAGGACAGTGACCGTCTCTCGGTGCCTCCTGTGTGTGCATTCTAGTGCTAGGCTTCCAGGTCTTCACTCGTTTAATTCTCACGGCTCTGCAAGGTGGCAACTGTTACTCTCTCCATTTTTTTTTCTTCTTTTTTTTAAAGTTTTAATGAGGAAACAGACTCCCAGAGGCCAGCTATCTTGCTGTCAGGGTTAGAGTGGGGGTTTAAACCCACGTTTCTTCCCCTCCCTGCGTGACTGGGGAGTTCAGAGCTCCTTGTCTCATTTCCAGGACACCCCCTGACCACATCTTAGCTGGGATGAGTGGGAACCTTGGTGGTCACGGGGGATTTGTCCTGAATTTGGGGGCAAGAAGTGGAGTGGGTCAACCTTTGGCATTGCAGCTTTTGTTTCTGAGACCCCCAGGATCTGAGCATTCTCCCTATAAGGTGCTTCCTGACATCCATTGATGTAGCATTGACACCTGTTAACCTCTGTTGACAGCTCTGAGCCCCAGTCCCCATGCCCTATAGCCCTTGGAACCTAGGAGACAAGATCCCCTTCCCTCCCCTGTCATCAAAGGACATGTCAGGTACATCACAGTCTTTGTGGTCCCCAGGCTTCCTGCTGCCCATCAGGACACACTTTAGATATTGTGTAAGTTGTAACAAATGATCGCAAATTTAGTGGCTTAAAACACAAATGTATTCTCTTATGGAGAAGAAAAATGTATTCTGTGACAGAAGTAGATCAGGAGTCTAAACTAGGTCGGCAGGATTGTGTTTTTTTCTGGAGGTTCTGGGGGGAATCCATTTCCTTACCTTTTCTACCTCCCAGAGACTGATCACCTGCATTTCCAGGTTTGTGGGCCTGTCCTCATCTTCCGAGCCAGCAATGTAGCATCTTCTGGTCTCCTGATTTCATCGTCACATTGCTGCTTTTAGCTCTGACTCTCCTACCCCGCTCAGCACTCCTTCTGATGACATTTGGACACTCTGAGTAATCTGGGATAATCTCCATCGCCACATCCTTAACTCACTTCTGTAAAGCCCGTTTGCTGTGTAAGGCAGCATTCACGGGTCTCAGGGATTAGGATGTGGACATCTTGGGGGCGGACACACGATTCAGCCCACCACAGGTGTCATGGAAGAGGCACTGTAGGAGGAGACAGTCTAGCGGTCTCCTGGCTGATTTGCTGTGTTACCTTGGAGAAGATCCTGCCTTTCTCTGGGCTGCTTGCCTATCAGCAGAATGAGAAGGTTGCCTCAGTGACCTCCAGGGTTGTTCTGAAAGGCCCCGGGTTCTTTTGAACACCTTGTTTCTTTCCTGCAGACTCAGTGTCACTGGCCACTTGCCTCGTGAGGTCCCAGGGCTCCAAGTTGCTGTGGCATCTCCTGTGAGTTCCCACAGATGTGACTCGTGGCTTTGTCTTTTAGGAGGCCACACAGACTTAAAAATACAGCTCCTTATGTCCCCATTGTTCATCTCTTCCTGCCCGCTGACCAGGGCAGGCCCTGGGCAGGGACAGCTGGCCCTGGGTGGGAGGG
|
GGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAGCTCAGGTCCATTTTACAGATGGAGAAGCTGAGGCCCAGAGAGGGAATTGCCTAAGGCTGCACAGTGAGGTAGTAGCTAAACTGGAACTAGGATATCCGGGCCAGAGCCCTGTCCAGCAGGCTCCCGTCTGCCTGGCATCCCTCCACCCTCTTGCTTTGTCTCTAAGCAGATGGCTCAGCCCGTTGGTGCACAGGCCAGTAGTAGGGTCAGTAGATGTGTGTTGTGGGGGTCTGGCTGATGTCTTCCTCTCACCGGCCTGATCATACCTGCCTTCCTTTAGTCAACAGTTTCAGATACCTATTCTGCCAACGTCTGTGCCAGATGAGGACTCCAATCCTGCTCATTGCCCTCAAGGAGCTTCCACTCTAGTTGGGTATAGTCGGGAGGAAACAGGAGATAGAGCATAGTGTTCCAAAAAGGCAAGGAGGAGATCTGCCTGGGGAAATCCCGGAAGGCCTCCCAGGGGAGGCGGCACCTTGCTGGGGCTTGAAGAATAATAGGATCTAGTTTGTTGTTACCAAGGACCCAGTAACATTTAGAGCAGGAAGCTGGACCCCCTGGGATGGAGAAGAGGTAGGCAGGGACCTAACACCTTCACGCTCTGCCCACCGGGGTGTTGATGCCTGTGATTGAAGCTGGGGCCACATGGTTGAGGGGTGAGTCTATGGCGCTCCTGTCCCACCTCTGGGTTGAGGGGTGAGTCTGTGGTGCTCCTGCCCCACCTCTGGGCTACCGGCCCCTCCCCGATTGAGACTCTGAGGCTGACTGGAGGCAACGAGGAGGGACCAGACAAGTGAGGGAGGGTGGGAGGCCGAGGGCTCGGGTGGCCCCTAGGTTACAGGTGCGACTGGGGGCAGAGAGGGTGCTCCATGCAGAGGGAGTTGCTGTGTGTCTCCTCCCGGGCCCACTGGGGCTCCTTGTTGGGTCCTCGTCACACACGCACCCCACCCCTACTCCCAGCTCTTCACCCCTGGCCACAGCTCCAGAACTTGCAAGTGTCCCAGTCACCCTGAGAGAGATGGACCTGAATCTCACCAGACCTCTGGGCAGGGGCATGGATCGGAGGGCAGGTGGGGTGGGGGAGGCCAGGTGAAGGGCATTGGTGAGCAGGGGAGTGTCCTGCTTTCTGCTTCCCCTTCTGGCCAGTTGGCACACAGCCTTAAGAGGCAGCATGGCAGTCATGGCCTCTGGAGTCCTACAAGTGAGTTCAGGTCTGGGCTCAGGTCTTTAGCCTCAGTTTACTTCATCTGAAAAACATGGATAGTGATAGAACCCGTCTCAGAGGGTAGCTTTGAGAATCACATGAGGTGAGGTCTAGAAAGCTCTTGGCACATTGCCTGGTATGTGGTAAGGGTTCAGCTATTACTGTTTTGGGGTGTGGCTCAGTGTGGGATGGGAGGGAGAGGGGGAAGTGCCCTGCTTCCAGTCTTTACCCCATTCCTTCCTTCCTGCCTGGCCTGGGCCCCTCCTGCACAGATGGCCTAGGTACCCAGCCTGGAGGCCAAGGCTGGATTCCCAGAGTCTGCCCTGGTGGAGTGGGAATAGCAGGTTCTCTGCAACTCAGGGGAGCTGCCCTGCAGGGCTTCCCACATGTGCTCAGGCCCCTGTGCCAGGTCTGGTGATGCTTCCTCCTTGCCTTTCAGGATCTCCTATTGCACAGCAGACAAGATGCACGACAAGGTGTTTGCATACATCGCCCAGAGCCAGCACAACCAGAGCCTCGAGTGCCAACGCCTTCCTCTGCACCAAGCGGAAGATGGTCAGCGGGGAGGGCTGGGGCGGGGACAGGGTCCAGTGGCCTTGGCAGCCTTGCTCTGGGTGGGGGGCTGTCTGGTGTGGGAGGCAGGACCCAAAGGTGACCATTACTTAAGAAGAGGGTGAAATCTCTGGGAACCCCAAGTGGGTGCCGAGAGCTAAGGGGTACAGTGGTGGGGCTGCAGGCAGGCAGGTGAACCGCCGGTCAGCTTTGTGTGGGCAGTAGCTGGCCCATGTCCCCAGTGTGTGTCTGGGCCTGTTCTCTCTGTAACGGGATTTGCTGGGTTGAGATTGTTTTGGATCTCCTGTCTTTAATATGGTCTAGGGATGCAGGGCCTTCTGGTGATTGGTCCTCGGAAATGGGAGATCAGGGGGGCCTAGGGTGGAAGGCAAAGGCGAGAGCCGTCAGAGAACCAGGCTTGCTGTGACTGGAGTGTGGAGGGCAATGGCTGTTTCTTGGTGCCTCCTGTGAGTTCATTCCAGCTGTGACCAGAGTGTGGAGGACAGTGACCGTCTCTCGGTGCCTCCTGTGTGTGCATTCTAGTGCTAGGCTTCCAGGTCTTCACTCGTTTAATTCTCACGGCTCTGCAAGGTGGCAACTGTTACTCTCTCCATTTTTTTTTCTTCTTTTTTTTAAAGTTTTAATGAGGAAACAGACTCCCAGAGGCCAGCTATCTTGCTGTCAGGGTTAGAGTGGGGGTTTAAACCCACGTTTCTTCCCCTCCCTGCGTGACTGGGGAGTTCAGAGCTCCTTGTCTCATTTCCAGGACACCCCCTGACCACATCTTAGCTGGGATGAGTGGGAACCTTGGTGGTCACGGGGGATTTGTCCTGAATTTGGGGGCAAGAAGTGGAGTGGGTCAACCTTTGGCATTGCAGCTTTTGTTTCTGAGACCCCCAGGATCTGAGCATTCTCCCTATAAGGTGCTTCCTGACATCCATTGATGTAGCATTGACACCTGTTAACCTCTGTTGACAGCTCTGAGCCCCAGTCCCCATGCCCTATAGCCCTTGGAACCTAGGAGACAAGATCCCCTTCCCTCCCCTGTCATCAAAGGACATGTCAGGTACATCACAGTCTTTGTGGTCCCCAGGCTTCCTGCTGCCCATCAGGACACACTTTAGATATTGTGTAAGTTGTAACAAATGATCGCAAATTTAGTGGCTTAAAACACAAATGTATTCTCTTATGGAGAAGAAAAATGTATTCTGTGACAGAAGTAGATCAGGAGTCTAAACTAGGTCGGCAGGATTGTGTTTTTTTCTGGAGGTTCTGGGGGGAATCCATTTCCTTACCTTTTCTACCTCCCAGAGACTGATCACCTGCATTTCCAGGTTTGTGGGCCTGTCCTCATCTTCCGAGCCAGCAATGTAGCATCTTCTGGTCTCCTGATTTCATCGTCACATTGCTGCTTTTAGCTCTGACTCTCCTACCCCGCTCAGCACTCCTTCTGATGACATTTGGACACTCTGAGTAATCTGGGATAATCTCCATCGCCACATCCTTAACTCACTTCTGTAAAGCCCGTTTGCTGTGTAAGGCAGCATTCACGGGTCTCAGGGATTAGGATGTGGACATCTTGGGGGCGGACACACGATTCAGCCCACCACAGGTGTCATGGAAGAGGCACTGTAGGAGGAGACAGTCTAGCGGTCTCCTGGCTGATTTGCTGTGTTACCTTGGAGAAGATCCTGCCTTTCTCTGGGCTGCTTGCCTATCAGCAGAATGAGAAGGTTGCCTCAGTGACCTCCAGGGTTGTTCTGAAAGGCCCCGGGTTCTTTTGAACACCTTGTTTCTTTCCTGCAGACTCAGTGTCACTGGCCACTTGCCTCGTGAGGTCCCAGGGCTCCAAGTTGCTGTGGCATCTCCTGTGAGTTCCCACAGATGTGACTCGTGGCTTTGTCTTTTAGGAGGCCACACAGACTTAAAAATACAGCTCCTTATGTCCCCATTGTTCATCTCTTCCTGCCCGCTGACCAGGGCAGGCCCTGGGCAGGGACAGCTGGCCCTGGGTGGGAGG
|
pathogenic
| 5,720 |
The mutation impacting LDLRAP1 (low density lipoprotein receptor adaptor protein 1) on chromosome 1 at position 25562648: benign or pathogenic? Name the associated disease(s) if pathogenic.
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pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4']
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TCCCCCATGACCATTGGCATCTTGGAGTGATCCTTGTGCAAGGTTTTTGCTTCTGGGGCAGCAGGGCTGCTGGGGGGCATGTGGCTGTCTTGGTTTGAGTTTCTGGCCCCTTTTGAGCCATGAGCAGCCTGGTTCCTGGGAACAAGGAATGTGAAAAACTGGGCAAGGTAGCATCCACTCAGGATAATAAGGCAGACCCGAAGGCCAGAGGCAGTCAGGAGGGGTGGGCATCCCGCCTGGGCAGGCCTGAGCAGTCCCTCCACCTAATGCTGGTCCTCGGATCCCTGCAGCCACCCCAGGAAGCAGGGCCCACCCCACTCCCAGTCCCTGCCCAGCCTGGGCTTGCAGCTACCTGCACACATCCACCTCTTGGGTTGTATTCAGTTTAACTTACAGCTTGGGACTTCAGGGCAAAAAGGTAGGAATGTATGCAAGTGAACAATCAGATTTATGCAACTACAGTCTAAGCTTGTGTCTCCAGATTTCCAGCAGGCTTAAATAATGGCGTTTTCATATCCCTGCCACATTGGGTGTCCAGCCCTTGCTTGGGTGGATAGTGATCTGACTTGGGCTGGTAATTAGCCCATATTTTTAGTTCATGGGCAATTCTCAATGGTAACTGGGTCTATTAAACTTGATTCAGATATGACAGCTTAAATTGTAAACAGCTGCGAAGAGTTTCATACTTAATTACCATATTTAAGTTTTGCCATAAAGTGCCTGTACTTCCATCAAAAATGTAAATGTTGGAGACATTCAAATGAGGTTTTATACTTTCGTGAAGTGTAATTGGCACGGATCAGTCAGTTTGTTTAGGAATTTTAAATATTTTTTTAAAAGGAGTTTTAAAGGCAGTGGCCACAGGTCCATTTCTCAATTAAATTGAGTTGTCTGGGGGAGGGCAGGGAGCGGGGCTGAGGCTGGTGAGGCCTGAACTTGTAGACTTGAAAGAGGCTGGTGCTTTCTTCTCTCAGCCAGGGCTTCAGAAGGAAGCTAGATGTTTCCGGCTATAGCTACGAACTCTGGGACTTCCACTCCCAGAAGCTGAGCTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGG
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TCCCCCATGACCATTGGCATCTTGGAGTGATCCTTGTGCAAGGTTTTTGCTTCTGGGGCAGCAGGGCTGCTGGGGGGCATGTGGCTGTCTTGGTTTGAGTTTCTGGCCCCTTTTGAGCCATGAGCAGCCTGGTTCCTGGGAACAAGGAATGTGAAAAACTGGGCAAGGTAGCATCCACTCAGGATAATAAGGCAGACCCGAAGGCCAGAGGCAGTCAGGAGGGGTGGGCATCCCGCCTGGGCAGGCCTGAGCAGTCCCTCCACCTAATGCTGGTCCTCGGATCCCTGCAGCCACCCCAGGAAGCAGGGCCCACCCCACTCCCAGTCCCTGCCCAGCCTGGGCTTGCAGCTACCTGCACACATCCACCTCTTGGGTTGTATTCAGTTTAACTTACAGCTTGGGACTTCAGGGCAAAAAGGTAGGAATGTATGCAAGTGAACAATCAGATTTATGCAACTACAGTCTAAGCTTGTGTCTCCAGATTTCCAGCAGGCTTAAATAATGGCGTTTTCATATCCCTGCCACATTGGGTGTCCAGCCCTTGCTTGGGTGGATAGTGATCTGACTTGGGCTGGTAATTAGCCCATATTTTTAGTTCATGGGCAATTCTCAATGGTAACTGGGTCTATTAAACTTGATTCAGATATGACAGCTTAAATTGTAAACAGCTGCGAAGAGTTTCATACTTAATTACCATATTTAAGTTTTGCCATAAAGTGCCTGTACTTCCATCAAAAATGTAAATGTTGGAGACATTCAAATGAGGTTTTATACTTTCGTGAAGTGTAATTGGCACGGATCAGTCAGTTTGTTTAGGAATTTTAAATATTTTTTTAAAAGGAGTTTTAAAGGCAGTGGCCACAGGTCCATTTCTCAATTAAATTGAGTTGTCTGGGGGAGGGCAGGGAGCGGGGCTGAGGCTGGTGAGGCCTGAACTTGTAGACTTGAAAGAGGCTGGTGCTTTCTTCTCTCAGCCAGGGCTTCAGAAGGAAGCTAGATGTTTCCGGCTATAGCTACGAACTCTGGGACTTCCACTCCCAGAAGCTGAGCTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGGN
|
pathogenic
| 5,724 |
Considering the variant on chromosome 1, location 25563135, involving gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
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pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4']
|
AGCAGGCTTAAATAATGGCGTTTTCATATCCCTGCCACATTGGGTGTCCAGCCCTTGCTTGGGTGGATAGTGATCTGACTTGGGCTGGTAATTAGCCCATATTTTTAGTTCATGGGCAATTCTCAATGGTAACTGGGTCTATTAAACTTGATTCAGATATGACAGCTTAAATTGTAAACAGCTGCGAAGAGTTTCATACTTAATTACCATATTTAAGTTTTGCCATAAAGTGCCTGTACTTCCATCAAAAATGTAAATGTTGGAGACATTCAAATGAGGTTTTATACTTTCGTGAAGTGTAATTGGCACGGATCAGTCAGTTTGTTTAGGAATTTTAAATATTTTTTTAAAAGGAGTTTTAAAGGCAGTGGCCACAGGTCCATTTCTCAATTAAATTGAGTTGTCTGGGGGAGGGCAGGGAGCGGGGCTGAGGCTGGTGAGGCCTGAACTTGTAGACTTGAAAGAGGCTGGTGCTTTCTTCTCTCAGCCAGGGCTTCAGAAGGAAGCTAGATGTTTCCGGCTATAGCTACGAACTCTGGGACTTCCACTCCCAGAAGCTGAGCTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGGGACTCCTGGCATCAGTTATCCCTCATGAACTTGGAATTTTGGCTTGGCTTTTGGAAGTAAATGAAGGCAAGAAAACTCCCTTCCCCACCCTCTTCCTTTTGGAATTTGAAAGCCATAGAAGTCATCAGGTCCAATGCCCTCCTCTTATTGAAGGAAAAGCTGAGTTTCAACGTGGAGCAGTGACTTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGATG
|
AGCAGGCTTAAATAATGGCGTTTTCATATCCCTGCCACATTGGGTGTCCAGCCCTTGCTTGGGTGGATAGTGATCTGACTTGGGCTGGTAATTAGCCCATATTTTTAGTTCATGGGCAATTCTCAATGGTAACTGGGTCTATTAAACTTGATTCAGATATGACAGCTTAAATTGTAAACAGCTGCGAAGAGTTTCATACTTAATTACCATATTTAAGTTTTGCCATAAAGTGCCTGTACTTCCATCAAAAATGTAAATGTTGGAGACATTCAAATGAGGTTTTATACTTTCGTGAAGTGTAATTGGCACGGATCAGTCAGTTTGTTTAGGAATTTTAAATATTTTTTTAAAAGGAGTTTTAAAGGCAGTGGCCACAGGTCCATTTCTCAATTAAATTGAGTTGTCTGGGGGAGGGCAGGGAGCGGGGCTGAGGCTGGTGAGGCCTGAACTTGTAGACTTGAAAGAGGCTGGTGCTTTCTTCTCTCAGCCAGGGCTTCAGAAGGAAGCTAGATGTTTCCGGCTATAGCTACGAACTCTGGGACTTCCACTCCCAGAAGCTGAGCTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGGGACTCCTGGCATCAGTTATCCCTCATGAACTTGGAATTTTGGCTTGGCTTTTGGAAGTAAATGAAGGCAAGAAAACTCCCTTCCCCACCCTCTTCCTTTTGGAATTTGAAAGCCATAGAAGTCATCAGGTCCAATGCCCTCCTCTTATTGAAGGAAAAGCTGAGTTTCAACGTGGAGCAGTGACTTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGAT
|
pathogenic
| 5,730 |
Does the chromosome 1 mutation at position 25563697 within gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
CTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGGGACTCCTGGCATCAGTTATCCCTCATGAACTTGGAATTTTGGCTTGGCTTTTGGAAGTAAATGAAGGCAAGAAAACTCCCTTCCCCACCCTCTTCCTTTTGGAATTTGAAAGCCATAGAAGTCATCAGGTCCAATGCCCTCCTCTTATTGAAGGAAAAGCTGAGTTTCAACGTGGAGCAGTGACTTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGATGATGGCCTGGATGAAGCGTTTTCGAGGTAATGCTAGCTTCCTGTGCTGGGTAGGGGGCCTGGTGTGCGTGGGCTGGCCCTGCTGCCCTTTCTCCTGGGGACCTTTCCCCTGATTAAGAACACAAGCCACTCAGACCCCCTCCAGAGCAACAGTCCCATCCCTCCACTCAAATGCTTCCAGGGGCAGGGAGCTCACTGGGGAGGAAACCCCTTCCAGCGTTGTCCAGAGCTGTTAGAAAGTTCTTACTGTTGAGTCAAAAACTATTCCTGGTGGCTGCTCTGCCGCAGTCTGAGGTGAGCGAAACACACTGCAGCTCAAGTTGATTTCCTCCGACTTGAGGAGGCGTGGCCTTCAAAAATGGGCTTTTTTTTTTTTTTACAGGCTTTGCTCCCTCCACAGGTCTGTGTTTATGAACAGGGGAAGGGAGAAAGTGTTTAATGAAGCTCGTGAAGCGTTCCATAGCAGGGAAGGTCAGGCACAGTGAGGAGGTGTTTTGGTATAGCCTTTGGTGGCATTTCCCCGTTTTCCCAGGGGCCATCCTTGTGGCCCCCTGCAGCTTGGGG
|
CTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGGTTTGGAGGGGTGAGGGAGAGTTCCCCTGGGGTGAAGGGCCGAGGTGTGGCCCTTCCTTACAGGTGGGTTATAGCACTGACCGGTTTTGGTCCCCGGGCCTTCATTGACATCTTGCTCCTATCAGGAAATTGACAAGCCTTCTACTCTCTTTGTGGGATCCAGTTATGGTCCCAACCGGAACCTAACTTTCACCTCTCTGGCTGTGGCTCATTTGGGGCAATGGCTGGGCCCTTCCAATTCTGGCTTTTCTGTTCTCCAATTCCAAGGGCTAAGTCCACAGGTAATTAGGGAGGGTTTCTTGGAGGAAGTAAGCCTCACAGTTCATTGAATTCAGGGAAGCCCAAAGGGGAAGGAAAAGACCTGGAGAAGAACAGCCTTTGCAGGCAGGGGCCCTAGAGTGAGAGTGAGAACTTTGGTGGGGCCAGAGATAGTAAAGATGGGGACTCTACTGCCTCTGCGAGGCTATGGCCTTATGACACCCCAGGCTGCTTTGGAGACCTGGGAAGGGCCAGGACCCTGCTCTGCCCAGCAGGCATTCCAGAGCCTGGGATGGAGCTGCAGAAGCTGCAGGGAGGGAGCCAGGGGGCCTGGCCTGGAGGCCCCAGCCCTCCAGTGCAGACTTGCTCTGCCCTGGCTGACACTGCACCCCTCCCCATCCCCACTTCCTGTTTTCAGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGGTGAGACTTTGCATCTACATTGTGGGTGTGGTGGGAGGTGGGGAGACACATAAAGGCCCTGGGGTCAGACCTGGACCGACTTCCTGCCTCATCACCCACCTGGCTTGTGACTGTGAGCAGGTCCCTTCACCGCTCAGAGTCTCGGTTTTCCCATCTGAAAAATGGGAACAGCCGTCTCCCTCCCCAAAGGTGCTTGTGAGGATTAACTGACATCCGAAAGGTTTCTTTCCTCCCGGCTGGAAACCTGAAACTGCCCCTTGAGGTTGGCCACCGCTAATCACCCCTGCCCGGTGATTGCTGGGGACAGAGTGCTGGGGTCTGAGGCTCCAACATGTTGTGCCTTGGTCCTGCAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCTCCTTGAAGAGCTGTGAGTCCTGACGGGGAAGGGGGATTGGCCATGCGGTGTTGGGGTTGCGCTTCACCCAGGGGGGTCCCACTCCTGCCTGGGCTGGGAGAGCCTCTTGGTTTTTCACTTGTGTTTTGTTAAATAAATAATACACGTTCATTACAGATCAATTAGAAAATGTAGATAAGGGGAAGAAATAACTCATTTTAGTACATTTTCTTCTAGATATGTCCCTATGCAAATATATAAATATGCGTCTATCTTTCTATATACTTAACATAGTATTGTGTGGTTGCTTAAGAAAACTTAACTATTGTGAATACAAAAGTTTCAGTCTAAGCCATTAGTCAGGTTCTCACTCTGTGGGCAGCTGCGCATCTGCTGTGGGGAGGTGCCAGGGCCGGGCTCTGCTGGGAGGCCTGGGCAAGGCCACATCAGAGGGGAGGGTCAGGGCCAGGACAGCCCAGGGAGGGGGCCAGGAAGGAAGAGGCTGATCTCCCACTGACAACCTGACCGGATCCCTCACAGTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGATGGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGTGAGTGGTTGTGTGGCCAGCAGATCGGTGATCCTCAGCCTGACCTCTGGGTGAGCCTGGGGCTGCTCCAGGGACCAGGCCCTGGGACCCGTGACTTGTGGGCCTCTGGGAGGACCAGACCCAGCCCGGTAGTGCCCAGGCGCAGGATAGGGGATGAACAATGTCCCTTTTGAACCTGAGGCTGCATCCCCAACAGGCTTGGCTCCCAGCACAGCTGTCTCCTCACAATGCTTGGCCTCTTGGCCTGAGCGTCCACGGCTCTGCCCACCACAAGACCAGCCAAAGGCGCCCTTGTTCTTGGTGTGGCAGAGCTCGCTCCTACCACCCCTCCCCCTCAGCCGCCTGAATGAGGACCCAGAGACTTGGGCAGTCACCAGCTTGGTCCCTGACTCCCTCAGGGACTCAGGGCAAGCCCCCTGACCTCTCTGTCTCAGCTTTTTCATCTCAGTAAGGGTGATGACCTCTGCCAACGGAATCTCCCCGAGGAACCTGAAATTTAATTTTAATTTTTCATTTGGAAATAATTTCAGACTGTGTTACAAAATTAGTACAGAGAATTCCTGTTCACCCGTCATCCAGATTCCCCAATTGTTAACATCTTGCATGACCACATTACACTGGTCAGAATCAGGAAACAAACACGATACTGTGCTGTTATATAATCTATAGAACTTACACATTTCTCCAGGTGCCCCTTCAGTGTCCTGTTTCTGGCCCAGGATCCATTGCAGAATCACATGTTAACTTGTCGTCTCTTTAATTTTTAAAAATCTGGGTACTGGGGGCTCCCCTGGTGTCCCTCGAGCCTGTTCTCTGCTGTTTGGGAACCACCCTTGCCACTTGCCCATCCTCACCAGAAGGCCATGGAGGGACCTCACCTGTCGCTTTTCTGCTGAGGCTGTGGGACTCCTGGCATCAGTTATCCCTCATGAACTTGGAATTTTGGCTTGGCTTTTGGAAGTAAATGAAGGCAAGAAAACTCCCTTCCCCACCCTCTTCCTTTTGGAATTTGAAAGCCATAGAAGTCATCAGGTCCAATGCCCTCCTCTTATTGAAGGAAAAGCTGAGTTTCAACGTGGAGCAGTGACTTGCCCAAGGTCTCACGGGCAGGTAGCATGGACCAGGGCACTGAACCCACCTGGGTCTCCAGACACCCTGGGACATGGCCTTTCTCCTCTCCCACGTCTCCAGCTTTGGGTCCTTGGGCTGAGATGCTGGCGATGCACCCAGGCAGGAGGCCTGCCTGAGGCCGTGCCTCCAGGCGCCCACCCTGAGCTTGTGTCCTGAGTCCCTGTAGCTTACCCAGGGCTGGGACAAGCCCCAGCTGTGAGCATGGGCTCCCCCAAACATAGTTCTTATCTCCTGCTTTGTTTTCCCCAAGGAGCTGGATGATGGCCTGGATGAAGCGTTTTCGAGGTAATGCTAGCTTCCTGTGCTGGGTAGGGGGCCTGGTGTGCGTGGGCTGGCCCTGCTGCCCTTTCTCCTGGGGACCTTTCCCCTGATTAAGAACACAAGCCACTCAGACCCCCTCCAGAGCAACAGTCCCATCCCTCCACTCAAATGCTTCCAGGGGCAGGGAGCTCACTGGGGAGGAAACCCCTTCCAGCGTTGTCCAGAGCTGTTAGAAAGTTCTTACTGTTGAGTCAAAAACTATTCCTGGTGGCTGCTCTGCCGCAGTCTGAGGTGAGCGAAACACACTGCAGCTCAAGTTGATTTCCTCCGACTTGAGGAGGCGTGGCCTTCAAAAATGGGCTTTTTTTTTTTTTTACAGGCTTTGCTCCCTCCACAGGTCTGTGTTTATGAACAGGGGAAGGGAGAAAGTGTTTAATGAAGCTCGTGAAGCGTTCCATAGCAGGGAAGGTCAGGCACAGTGAGGAGGTGTTTTGGTATAGCCTTTGGTGGCATTTCCCCGTTTTCCCAGGGGCCATCCTTGTGGCCCCCTGCAGCTTGGGG
|
benign
| 5,744 |
Variant in SELENON (selenoprotein N), chromosome 1, position 25800232—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACC
|
CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAA
|
pathogenic
| 5,772 |
Benign or pathogenic: chromosome 1, position 25800232, gene SELENON (selenoprotein N) variant? Disease(s) if pathogenic?
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACC
|
CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 5,773 |
Is the genetic change at chromosome 1, position 25800233, within gene SELENON (selenoprotein N) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
TCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCG
|
TCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTG
|
pathogenic
| 5,774 |
Variant on chromosome 1, at position 25800270, affecting SELENON (selenoprotein N): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
AGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCT
|
AGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGC
|
pathogenic
| 5,776 |
A mutation at chromosome position 25800291 on chromosome 1 in gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
TGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTAGGTGCTTT
|
TGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTA
|
pathogenic
| 5,778 |
Variant at chromosome position 25800369, chromosome 1, gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
CCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTAGGTGCTTTCAGATTTCTATTCCATTCTTTGTTGTTGTTGTTGTTGAGATGGAGTCTTCCTCTGTCACCTAGACTGGAGTGCAGTGA
|
CCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGTGGCACAGTTGGAAGCCTTCAGAAGCCAACGCCAGATGTCAGGCTCTCAGTGGGTCCCTCTAAGGACACTGGGGCCAGAGCACAGGGCAAGGGTTGGGTGGGCCCACAACTCTGGAAGGTCCCTGGGAGTCATTCATCTGACAGACACTGAGGAGTGCCCACGATGTGCCACGCCCTGTGTGGGCTCTGGGAAGGCCTCACCTGGTGCTGCCATGGCTGGCCACCAAAGAAGAACAGGATGGGCAGTGGAGGCAGGACCCCACCCCCAACTCAGTCGACCGGGTCATCCCGTGGGAAGCCTGGGAGGCAGGATGGCAGGAGATTTGGACCCATAGACCTGGGTGCCAGAGGTCAGGCTTCTTCATTTGAAAACCAGGGAAGCAGTCTCTACCTCACAAGGTGGCTTGAGAACAGAGTGAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTAGGTGCTTTCAGATTTCTATTCCATTCTTTGTTGTTGTTGTTGTTGAGATGGAGTCTTCCTCTGTCACCTAGACTGGAGTGCAGTGAN
|
pathogenic
| 5,779 |
Clinical classification of chromosome 1, position 25801105, gene SELENON (selenoprotein N): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
GAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTAGGTGCTTTCAGATTTCTATTCCATTCTTTGTTGTTGTTGTTGTTGAGATGGAGTCTTCCTCTGTCACCTAGACTGGAGTGCAGTGACATAATCTCAGCTCACTGCAGCTTCTGCCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTTCCCAGGAGCTGGGATTACAGGCACCTACCACCATGCCGGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTTGCCTTGTTAGCTAGGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCTATTCCATTCTTGCTATCATTTTTGCCTAGTGCAGTCAGTGATTATTTATTTATTTATTTGGTTAAAGATGAGGGGCTGAAACATTCTAATGAATTATAAAACGCTTCTCTCGCTGCCCCACCACCACCCTAACCTCTGTGCCCATTTTCTTCCAACTTCTTGTGACGTTTCTTGAACTTAGGATCTTGGACACCTACTTATTACCCAGATTGCCTGGTGTAAGTCAGTCATTGATGGGAAAGGCAAGAGAGACATGCTGGCTGTTTCGGGTGCATAAGCTTCAAAGCGCTGTCACTAGCCTGCTGTTTTTCAGGGGTGTATTGTGTAGGTTGGTTCCGTGCTGGCCCGGTGACCTGTGATCACTGCTAGAGGAGGAAGGTTGGATGAAAAATGCTAATGAGCTGGAGTGGATGTGTATCAATGTCTCTCAGTGGCAGGCAGTTCTGTCATGAAAGCAGATGGGCAGATAAACAGGTCGTCCCCTTGTGGCCTT
|
GAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACCCCTATTTCCAAGGCCCTCCTCCAAGCATGCCGCATGCTGTTCTCCAGAAAAGCCAGGGCCTCTGGTAGCTCCAGCTGCTGAGGGGCTGGAGCCTCGCCTTCCCCTCACCAGACCAGAGCCCGGAGGGTGGGGGTTGGGGGGCTCTTTTAACTCCTTGGTGGAGATGAGGAAATTTGGGCCCAGGGAAGTGCAGGTTCAGAGCTGCACCTGCTGTGCCTGGAACAAGGCCAATCCCCATAACCCATGCATCTGCGGAGGTGGCCCCCCAACTGCACATGAGGGGAACAGGGGCTGGGCTTTCTTTTTAATTTGTCTTGCTCTAGATGACAGAGGAACTTTTAGAAAACTGGTGGGATAAGGATGGACGGATGCCCCTCAGCAGTCTCTGGCCTCGTGCCCGGCTGCCAGCAGAGGAGGACACGAGGCCTCAGAGGCCCCCGACGCCCCTTCTCCAGGAAAGCACAGGGTGTGTGGCTTCTCCCCAGCCCCTTCTTTGTCCCAGTCCCCAGTCTGGAATCGCTCTCTGGGCTGGGCCAGGCAAGTGGGCCGCAGAGGCCTGGCTTAGCTTTGGGAACGGAAGCACGGGAAGGGGCGCGGAGAGGCAGGAAGCGGCCTGGGGAGGCTGGGGTGGCCGGGACTACGGACCCGACCGCATAGACGCGATCAGCCCCTCTTGGCGTTCCGGTGTAGCTGACCCCGCCCCGGGCTCTGGCCGGGCTGCGAAGCCGGGAACCAGCGACCCCCCGCCCAGCCCCTGCGGCCGCCCCGCCCCTCCCCGCCCCGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGGCCCGAGCTGGCTGGGGCGGGAGCGCGGGAGCGGGGACTGAAGGACCCAGCCTCGGCAGCAGGGGGGACATGGGCATGGACGAGTCGGGGGAGGCGGAGGGCGGAGGGGGACTGGACGGGAGGGAGCACGGGAAGGAGGGGACACGGGAGGCGGGTGGGGGGTGCCTGGGGCCGGGCTGATGGGGGGAAGGCGAACGGAGGCCAGTGTGGGGCTGGGACAGACTGGAGGGGTCTCTATCCAGAGGGGTGACCTGGACACAGTGAAGCTGGTTCCCGCAGAGTCTTAAAGGGTTACTGGGGAGCCCTGGGACAGTGAGGAGGGGACACAGGAGAGGACAGAAGGTGCAGGAGGAACAGGGCCAAGCAGCCAGGGCCAGGCGGAAGGCGGAGTGGGGACAAACTGGGAGGGGGCAGTCGGACCAGACAGTGGATGAGCAGGGACCAGGAGGGACTGGAGGCTCTGGGGCAGTTCAGAGGCAACATTTGCACAGATGGACCGGGAGGCACTGGGAGAGCTCAGGAAGATGGTGGGAGAAGGGGCTCCATGCGGAAGCAACTGCCTGTTGGGGACCAGGAGACCAGGCCGCCAAATGGTGCCCAGCCCAGTCTCTCCTCCCAAGCAGGAACTGGCGCTGAAGACCCTGGGGACAGATGGCCTTTTTCTCTTTTCCTCCTTGGACACTGACGGGGGGATATGTACATCAGCCCTGAGGAGTTCAAACCCATTGCTGAGAAGCTAACAGGTACCAGGAGAGACTGGCGGCTGGGGAGGAGGGCGCCTTGGCCAACGGTGTCTTCACTGAGCAGGAGCGGCCGTCTGGAGTGGAGGGAAGCTCGTGGGATCTCAGAGGCCCTGGACTCCTCCCAGCTCTGACACTTTGTAGCTGGTGGCTTGGGCGAGCTGCTCCAGCAACCCCTGAGCCTGTTTTTCTCAGACTTGTGAGCAATAATACCAGCTAACATTCTTTGGTCTGCGAGGTAGCTCACGCCTGTAATCCCAACACTTTGGGAGATGGAAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATGGCAAAACCCCATCCCTACAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTAGAGGCCATGAGGCAGAGGTTGCAGTGAGTTGACATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCAAAACAAACAAACAAAGCAAAACCAAAAAAACAAAAAAACCATTCCTTGGCCACCTCCTCCGTGCCAGGTATTTAAGTATTTCATGTGGGTTCTCTCTTTAAACCTCACAGTAGCCCTGGGAGATGGACACTGTCATGATCCCCATGTTTAATAGTCTGAGAGACTAAGGCACAGGCAGGCTCCCCAGTTTCCCAAGCTAGAAAGGTGCGGAGCCAGGGCTAGAACTGGGGCCATCTGGCTTCAGGGTCCTGCACCAGCTCACAGGTTTCAGTAGAGAAAAGAAATGCACAGTGACGAATATGCAGTAGATTTCCAATAGACAGCAGCTATAACTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTCACCCAGACTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACTTCCCTGGCTCAATTGATCCTCCTGCCTCAGCCTCCTGAGTAAGTGGGACCACAGGCATGTGCTACCACGCCCAGCTGATTTTTCTATTTTTGTAGAGATGCAGTCTCACTACGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAACGATCCTCTTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAACCACCGCACCCAGCCAGGAGCTATAACTATCATTACTAAATCTGAAACTTTGCTTAGGTGCTTTCAGATTTCTATTCCATTCTTTGTTGTTGTTGTTGTTGAGATGGAGTCTTCCTCTGTCACCTAGACTGGAGTGCAGTGACATAATCTCAGCTCACTGCAGCTTCTGCCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTTCCCAGGAGCTGGGATTACAGGCACCTACCACCATGCCGGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTTGCCTTGTTAGCTAGGCTGGTCTCGAACTCCTGACCTCAAGAGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCTATTCCATTCTTGCTATCATTTTTGCCTAGTGCAGTCAGTGATTATTTATTTATTTATTTGGTTAAAGATGAGGGGCTGAAACATTCTAATGAATTATAAAACGCTTCTCTCGCTGCCCCACCACCACCCTAACCTCTGTGCCCATTTTCTTCCAACTTCTTGTGACGTTTCTTGAACTTAGGATCTTGGACACCTACTTATTACCCAGATTGCCTGGTGTAAGTCAGTCATTGATGGGAAAGGCAAGAGAGACATGCTGGCTGTTTCGGGTGCATAAGCTTCAAAGCGCTGTCACTAGCCTGCTGTTTTTCAGGGGTGTATTGTGTAGGTTGGTTCCGTGCTGGCCCGGTGACCTGTGATCACTGCTAGAGGAGGAAGGTTGGATGAAAAATGCTAATGAGCTGGAGTGGATGTGTATCAATGTCTCTCAGTGGCAGGCAGTTCTGTCATGAAAGCAGATGGGCAGATAAACAGGTCGTCCCCTTGTGGCC
|
pathogenic
| 5,785 |
Regarding the variant at chromosome 1 and position 25808724, affecting gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
CAGCAGCAGCCCCTTGGCAGTGCCCAACTCTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGA
|
CAGCAGCAGCCCCTTGGCAGTGCCCAACTCTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGG
|
pathogenic
| 5,800 |
Mutation found at chromosome 1 position 25808753, gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Congenital_myopathy_with_fiber_type_disproportion', 'Eichsfeld_type_congenital_muscular_dystrophy', 'SELENON-related_disorder']
|
CTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAG
|
CTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTA
|
pathogenic
| 5,802 |
Chromosome 1, position 25808786, gene SELENON (selenoprotein N): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy', 'Muscular_dystrophy', 'SELENON-related_myopathy']
|
TGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGT
|
TGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 5,804 |
Chromosome 1, position 25809021, gene SELENON (selenoprotein N): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
CACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCC
|
CACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCNNNNNNNNNNNNNNN
|
pathogenic
| 5,808 |
Variant on chromosome 1, at position 25809104, affecting SELENON (selenoprotein N): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Congenital_myopathy_4A,_autosomal_dominant', 'Congenital_myopathy_with_fiber_type_disproportion', 'Eichsfeld_type_congenital_muscular_dystrophy']
|
TCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCATCTC
|
TCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCAT
|
pathogenic
| 5,811 |
Subsets and Splits
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