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
|
|---|---|---|---|---|---|
Mutation found at chromosome 1 position 1040717, gene AGRN (agrin): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_8']
|
TGGTGCAGGGAGGTGACTGGGTCCTTGGCCATGGGGTTGGGACCTGGGGGGAACCATTGGTCCACAGGTCCAGCCGAAGCCCAGGAGAACAGCTGGCTGGGCATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCG
|
TGGTGCAGGGAGGTGACTGGGTCCTTGGCCATGGGGTTGGGACCTGGGGGGAACCATTGGTCCACAGGTCCAGCCGAAGCCCAGGAGAACAGCTGGCTGGGCATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTG
|
pathogenic
| 67 |
Evaluate if the mutation on chromosome 1 at position 1040819 in AGRN is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Congenital_myasthenic_syndrome_8']
|
ATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAG
|
ATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCA
|
pathogenic
| 69 |
A genetic variant on chromosome 1, position 1041678, affects the gene AGRN (agrin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Congenital_myasthenic_syndrome_8', 'Presynaptic_congenital_myasthenic_syndrome']
|
GTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCCTGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGA
|
GTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCCTGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 80 |
A genetic variant at chromosome 1, position 1043223, affecting gene AGRN (agrin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
TCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCCTGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGACCCTGTGGTGAGTGAGGCCCTGGGGCCGGGCGGGCCAGGGTCCTGTGCCTCCCTCAGCCTGGGCCTGCCGACCCCTGCCTGGCTCTGTCTCCTGCAGAGACCTGTGGAGATGCCGTGTGTGCTTTTGGGGCTGTGTGCTCCGCAGGGCAGTGTGTGTGTCCCCGGTGTGAGCACCCCCCGCCCGGCCCCGTGTGTGGCAGCGACGGTGTCACCTACGGCAGTGCCTGCGAGCTACGGGAAGCCGCCTGCCTCCAGCAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGCAGGGTAGGCCGGGGGACGCTGGCGAAAACTGCTGGGCTCTGGCTTTGGACAAGAAGCCCCTGGGTGACTCTGCTCCCCTTCCCCGCAGCCGAGTGCGGTTCCGGAGGCTCTGGCTCTGGGGAGGACGGTGACTGTGAGCAGGAGCTGTGCCGGCAGCGCGGTGGCATCTGGGACGAGGACTCGGAGGACGGGCCGTGTGTCTGTGACTTCAGCTGCCAGAGTGTCCCAGGCAGCCCGGTGAGCTCTGTACCCCTGGCTCTCGGCGGGCGGCGGGGACGGGGCTGCGGCCGCTCACACTGACACCACCCTCCAGGTGTGCGGCTCAGATGGGGTCACCTACAGCACCGAGTGTGAGCTGAAGAAGGCCAGGTGTGAGTCACAGCGAGGGCTCTACGTAGCGGCCCAGGGAGCCTGCCGAGGTGAGCCGGCTGCACGTGGGGTCTCAGGCACAGGCGGGGCGGCGTCTGGGTTTCCGTGTCTGGATGTGGGCGTGCCCGTGTGCTGCGTTGGGCCCCTGTGGACGTGTGTATTGTGTTGTAAGTGAGCATCGTCCAGTGTTGGTGCCTGTGCACATTTGTGCAGCTGCGTGTGTGGGCGTGTGTGTCCATCAGTCAGTGGGCGTGCACCAGGCCAGGCCTCAGTGCTGAGAGGCAGCGTGAACCATGCGGGGCCCCACCGTGTGGGCACTTTCTCTGCATACGTCCATCCGGTCGATGTATCACATCAATTAGGTAAAAGTGGTGCCCGGTGTGTGTGATGCGCGTGCACAGATGTGTGTCTGCAGAGGGGCGTTAACTGTACGGTTTGGAGGAATGTGGGTGAGAACGCATGCTGACGTCTTCAGATGTCTGTTTCTCGATTTGCAAGGAAGCTCGCGTGTGTGTGTGCACAGAGCTGCGTGTCCGTGATCTTTGGATGCTCTGTGTGTTGTGTGTTCCTGGATCTGCATTTACAGACATGTTCTTGCGTAAGATGTGGGAGCCTCACCTGTGTCCTCAGCCCCAGGCTCCCGGGCTCCTCTGGGAGCTGGGATCGGGACGGCTGAGTGGTGACAGTGGGGGTAGGTGGAGGCAGACTGGCTGGGTCCAGGGTGGGTGTCCAGCACTGCATGAAATCTGAGTCCCGTACCCTTTCCTGCAGGCCCCACCTTCGCCCCGCTGCCGCCTGTGGCCCCCTTACACTGTGCCCAGACGCCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCGTGGGCCTGGCTGGC
|
TCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGACCCTGTGGTGAGTGAGGCCCTGGGGCCGGGCGGGCCAGGGTCCTGTGCCTCCCTCAGCCTGGGCCTGCCGACCCCTGCCTGGCTCTGTCTCCTGCAGAGACCTGTGGAGATGCCGTGTGTGCTTTTGGGGCTGTGTGCTCCGCAGGGCAGTGTGTGTGTCCCCGGTGTGAGCACCCCCCGCCCGGCCCCGTGTGTGGCAGCGACGGTGTCACCTACGGCAGTGCCTGCGAGCTACGGGAAGCCGCCTGCCTCCAGCAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGCAGGGTAGGCCGGGGGACGCTGGCGAAAACTGCTGGGCTCTGGCTTTGGACAAGAAGCCCCTGGGTGACTCTGCTCCCCTTCCCCGCAGCCGAGTGCGGTTCCGGAGGCTCTGGCTCTGGGGAGGACGGTGACTGTGAGCAGGAGCTGTGCCGGCAGCGCGGTGGCATCTGGGACGAGGACTCGGAGGACGGGCCGTGTGTCTGTGACTTCAGCTGCCAGAGTGTCCCAGGCAGCCCGGTGAGCTCTGTACCCCTGGCTCTCGGCGGGCGGCGGGGACGGGGCTGCGGCCGCTCACACTGACACCACCCTCCAGGTGTGCGGCTCAGATGGGGTCACCTACAGCACCGAGTGTGAGCTGAAGAAGGCCAGGTGTGAGTCACAGCGAGGGCTCTACGTAGCGGCCCAGGGAGCCTGCCGAGGTGAGCCGGCTGCACGTGGGGTCTCAGGCACAGGCGGGGCGGCGTCTGGGTTTCCGTGTCTGGATGTGGGCGTGCCCGTGTGCTGCGTTGGGCCCCTGTGGACGTGTGTATTGTGTTGTAAGTGAGCATCGTCCAGTGTTGGTGCCTGTGCACATTTGTGCAGCTGCGTGTGTGGGCGTGTGTGTCCATCAGTCAGTGGGCGTGCACCAGGCCAGGCCTCAGTGCTGAGAGGCAGCGTGAACCATGCGGGGCCCCACCGTGTGGGCACTTTCTCTGCATACGTCCATCCGGTCGATGTATCACATCAATTAGGTAAAAGTGGTGCCCGGTGTGTGTGATGCGCGTGCACAGATGTGTGTCTGCAGAGGGGCGTTAACTGTACGGTTTGGAGGAATGTGGGTGAGAACGCATGCTGACGTCTTCAGATGTCTGTTTCTCGATTTGCAAGGAAGCTCGCGTGTGTGTGTGCACAGAGCTGCGTGTCCGTGATCTTTGGATGCTCTGTGTGTTGTGTGTTCCTGGATCTGCATTTACAGACATGTTCTTGCGTAAGATGTGGGAGCCTCACCTGTGTCCTCAGCCCCAGGCTCCCGGGCTCCTCTGGGAGCTGGGATCGGGACGGCTGAGTGGTGACAGTGGGGGTAGGTGGAGGCAGACTGGCTGGGTCCAGGGTGGGTGTCCAGCACTGCATGAAATCTGAGTCCCGTACCCTTTCCTGCAGGCCCCACCTTCGCCCCGCTGCCGCCTGTGGCCCCCTTACACTGTGCCCAGACGCCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCGTGGGCCTGGCTGGCNN
|
benign
| 90 |
Clinical classification of chromosome 1, position 1048791, gene AGRN (agrin): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
GGGATCAAGGACTTGGGGTGGGTGGGCAGGCGCCGAGAGGCTCCACCAGAGCCTGGGCTCAGAGCGCGTCTCCCCAGGGCTCGAGCCCTTGGAGGGCAGCAGCGTGGCCACCCCTGGGCCACCTGTCGAGAGGGCTTCCTGCTACAACTCCGCGTTGGGCTGCTGCTCTGATGGGAAGACGCCCTCGCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGG
|
GGGATCAAGGACTTGGGGTGGGTGGGCAGGCGCCGAGAGGCTCCACCAGAGCCTGGGCTCAGAGCGCGTCTCCCCAGGGCTCGAGCCCTTGGAGGGCAGCAGCGTGGCCACCCCTGGGCCACCTGTCGAGAGGGCTTCCTGCTACAACTCCGCGTTGGGCTGCTGCTCTGATGGGAAGACGCCCTCGCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGNN
|
benign
| 166 |
Gene AGRN (agrin) variant at chromosome 1, position 1048977—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Congenital_myasthenic_syndrome_8']
|
GCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGG
|
GCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGNN
|
pathogenic
| 172 |
Does the variant impacting DVL1 (dishevelled segment polarity protein 1) on chromosome 1, position 1338096, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Autosomal_dominant_Robinow_syndrome_2']
|
TCCTGGCCCCCACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCAGGGGGCAGCCGGGTGGGGCAGCGGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGC
|
TCCTGGCCCCCACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCGGGGGCAGCCGGGTGGGGCAGCGGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCN
|
pathogenic
| 327 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 1338107, gene DVL1 (dishevelled segment polarity protein 1): what disease(s) if pathogenic?
|
pathogenic; ['Autosomal_dominant_Robinow_syndrome_2']
|
ACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCAGGGGGCAGCCGGGTGGGGCAGCGGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCT
|
ACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCAGGGGGCAGCCGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTNNNNNNNNNNNNN
|
pathogenic
| 328 |
Gene DVL1 (dishevelled segment polarity protein 1) variant at chromosome 1, position 1341593—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
TCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTGAGGG
|
TCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTG
|
benign
| 354 |
Is the chromosome 1, position 1341659 variant in DVL1 (dishevelled segment polarity protein 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
GTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTGAGGGCAGGGCTTTGCCTGACCCCTGCCCTGCACCCCTAGTCAGGCTCACAGTCCACCTACAAGGACTCTC
|
GTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTGAGGGCAGGGCTTTGCCTGACCCCTGCCCTGCACCCCTAGTCAGGCTCACAGTCCACCTACAAGGACTCTCNN
|
benign
| 355 |
Clinical classification of chromosome 1, position 1435798, gene VWA1 (von Willebrand factor A domain containing 1): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Neuromuscular_disease', 'Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7', 'VWA1-related_disorder']
|
CCACGTCCCTCCTCCGGGGTGGAGACAGCGGGGGGAGGGCAGGACACAAGAATGAGTCCTGAAGACTGAGGGGCACGGGGAGAGCTGATGGGGAGGGTCTCCTAGCTGGAGGGACTCCAGGCAGAGCCGGGAGCAAGGCAGGTGGCTGAGCTCGGCCCAGGCTGGGTGGAGGCCAGGCCTCCTGTGCCTTCTCCCGCTGATGGCGAGCTGAAGGGAGGAGGGCGGCCGCTTCCTTGAGGGCCTGAGTCACAGCCAAGAAGACCCGCTCACTTTTTCCAGAAGTGAGGGAAACTTCCCCGTCAGCCCTGCAAGGCTGGCTGAGGTGTGACTGTGGCCCGCCTGCTGGGCGAGGGTGGGGGACAAGCGGGCCACTGGCTGTGAGCCTCCCCAGGGTGGGGGACCCTCGGCCCAGCTCCCTGCCTGACTACCTGGACGTGCCTCCGCAGGGTCTGCAGCCAGCTTCCGGTCAGACCCCAGGTCCTCCAGCGGCTGCGGCCTTCAGCGTCATCTCCACGGCAGCCCCTGTGTACTGGGGGCTGGGGGGCCTGGCGAGGCCCCTCGAAGTGGTACAGCTTGCACTCTGGGGACCCAAAGTCCCCCCACCGGGCCCAGGCGGAAGCACCAGGCATTTCTGGTCCCAGCCGAGGTCTGAGGTCTGTGGAGCGCAGCCAGCACCTCCACTGCCAAGATCCCCGGCAGGGGGGGTGGGGGGCGCCGGCGGGGACACAGCTCTCCCTTGTTCCTGCCGCCAGCTCCTCAGCCTCAGCCTGCTGCTTCCTTTTTTAGGCAAAGTCGAGTGCTGGCCGTCCGCACGGCCCCGCGGTGTCTCACCTGCCTGAAAGGGAGGAAGGAAGCCTGTGGAGCCCCATCCGTTCTCCCGCGGCGCATCCTCCAGGAGAGGGTGGGGAAGGAGGAGACATCCTGGCAGACACCCCCCCACGTCCCCCACCTCCCAGCTCTGAGCTGAGGAGGCCCTGGAAGAGGGCCATGGCTACTCCGAGGGAGGGCCGGGGTAGGGTTCTCCTGTCCAGGGGACACTGCTGGCCCAGCCCCACCCAAGCAGGGGAAATCTGCCCTGGGAGCCACTGTCCCTCAGGACGCCCCCTGCAACCAGCCACCTCTCGTCTGGGCCTCACCAAGACCCCAAGACTCAAGAGCTCCTGTCTCACCAGTGGGACCCTCCAGTCCTGCTGGGGGTGTGTCCTGGGTCCTGGAGTCTGGGCCCCTCACTGGGTAGGGTATATGGGTAACAGGCCCAGTGTGGTCCCACTGGACAGGGCCTCAACCAACCATCTCCCACTCCCATGCCTCTTCCTCCAAGAAGCCCAGGTGGCGTGGGTGCTTCGAGTCTCTCTCGAATTCCTGTCTTCTGTCCCCTTTCAAGCCACTGTGTCCTTGTAAGTTCCACCCCATGGTCCTTCCCATCCCTGCTGGTCAGTCCCTGGGATACATGTCCTGTTACTCCAGACACCTATCCGCCTCCAGCGCGGAGGCCAAGGCGAAACCACGGTCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATG
|
CCACGTCCCTCCTCCGGGGTGGAGACAGCGGGGGGAGGGCAGGACACAAGAATGAGTCCTGAAGACTGAGGGGCACGGGGAGAGCTGATGGGGAGGGTCTCCTAGCTGGAGGGACTCCAGGCAGAGCCGGGAGCAAGGCAGGTGGCTGAGCTCGGCCCAGGCTGGGTGGAGGCCAGGCCTCCTGTGCCTTCTCCCGCTGATGGCGAGCTGAAGGGAGGAGGGCGGCCGCTTCCTTGAGGGCCTGAGTCACAGCCAAGAAGACCCGCTCACTTTTTCCAGAAGTGAGGGAAACTTCCCCGTCAGCCCTGCAAGGCTGGCTGAGGTGTGACTGTGGCCCGCCTGCTGGGCGAGGGTGGGGGACAAGCGGGCCACTGGCTGTGAGCCTCCCCAGGGTGGGGGACCCTCGGCCCAGCTCCCTGCCTGACTACCTGGACGTGCCTCCGCAGGGTCTGCAGCCAGCTTCCGGTCAGACCCCAGGTCCTCCAGCGGCTGCGGCCTTCAGCGTCATCTCCACGGCAGCCCCTGTGTACTGGGGGCTGGGGGGCCTGGCGAGGCCCCTCGAAGTGGTACAGCTTGCACTCTGGGGACCCAAAGTCCCCCCACCGGGCCCAGGCGGAAGCACCAGGCATTTCTGGTCCCAGCCGAGGTCTGAGGTCTGTGGAGCGCAGCCAGCACCTCCACTGCCAAGATCCCCGGCAGGGGGGGTGGGGGGCGCCGGCGGGGACACAGCTCTCCCTTGTTCCTGCCGCCAGCTCCTCAGCCTCAGCCTGCTGCTTCCTTTTTTAGGCAAAGTCGAGTGCTGGCCGTCCGCACGGCCCCGCGGTGTCTCACCTGCCTGAAAGGGAGGAAGGAAGCCTGTGGAGCCCCATCCGTTCTCCCGCGGCGCATCCTCCAGGAGAGGGTGGGGAAGGAGGAGACATCCTGGCAGACACCCCCCCACGTCCCCCACCTCCCAGCTCTGAGCTGAGGAGGCCCTGGAAGAGGGCCATGGCTACTCCGAGGGAGGGCCGGGGTAGGGTTCTCCTGTCCAGGGGACACTGCTGGCCCAGCCCCACCCAAGCAGGGGAAATCTGCCCTGGGAGCCACTGTCCCTCAGGACGCCCCCTGCAACCAGCCACCTCTCGTCTGGGCCTCACCAAGACCCCAAGACTCAAGAGCTCCTGTCTCACCAGTGGGACCCTCCAGTCCTGCTGGGGGTGTGTCCTGGGTCCTGGAGTCTGGGCCCCTCACTGGGTAGGGTATATGGGTAACAGGCCCAGTGTGGTCCCACTGGACAGGGCCTCAACCAACCATCTCCCACTCCCATGCCTCTTCCTCCAAGAAGCCCAGGTGGCGTGGGTGCTTCGAGTCTCTCTCGAATTCCTGTCTTCTGTCCCCTTTCAAGCCACTGTGTCCTTGTAAGTTCCACCCCATGGTCCTTCCCATCCCTGCTGGTCAGTCCCTGGGATACATGTCCTGTTACTCCAGACACCTATCCGCCTCCAGCGCGGAGGCCAAGGCGAAACCACGGTCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCT
|
pathogenic
| 369 |
Mutation found at chromosome 1 position 1437308, gene VWA1 (von Willebrand factor A domain containing 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7']
|
TCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGG
|
TCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGGN
|
pathogenic
| 371 |
Is chromosome 1, position 1439536, gene VWA1 (von Willebrand factor A domain containing 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7']
|
TGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGGCCCGGTGAGGCAGGGCCGGGGGCTTCGGGCCCGGAGTCGGGGGCTGGGCCGGCCCCCACGCAGCTCGCCGCCCTCCCCGCCCCAGAGGAGGCCGGGCCAGAGCGCATCGTCATCTCCCACGCCCGGCCGCGCAGCCTCCGCGTGAGTTGGGCCCCAGCGCTGGGCTCAGCCGCGGCGCTCGGCTACCACGTGCAGTTCGGGCCGCTGCGGGGCGGGGAGGCGCAGCGGGTGGAGGTGCCCGCGGGCCGCAACTGCACCACGCTGCAGGGCCTGGCGCCGGGCACCGCCTACCTGGTGACCGTGACCGCCGCCTTCCGCTCGGGCCGCGAGAGCGCGCTGTCCGCCAAGGCCTGCACGCCCGACGGCCCGCGCCCGCGCCCACGCCCCGTGCCCCGCGCCCCGACCCCGGGGACCGCCAGCCGTGAGCCGTAAGCCGGCGTCCCCGCCCAGCCGAGAGGGCCGGCGCCTACCTGAGGGCCCCTGTGTCCCGAACCCGGAGCGGAGGCGCCCAACCCGGCAGACGGGTGCAGGCCCGGCCTTTCCCCACGCGGACTCCGCGCGACCCCGGCCCTCTCCCTGCGGCCGCAGGGCTTCCCCGCCTGGCGCCTGCCCTCCAGGGCTGGGGCCTCGCCTGGCGGGACCCCGCAGCAGCCCCGGCCCCATCCCCGCCCAGAGCCGGGCGTCGTGTGGGTCCGTGGGTGATAATTGAGAGCGTCAGACCCAGGACTGTTCAGGGAGGAGCCCCGGTCAGACTCCCACGTGTGAAGACCGGGCCCCAAGTGGCAAGGGCTGGCCTGGGGCGGGCAGCTTGGGTCCTGGACGTTGATAGGAAGCGGAAGGGGAATCGCGGGAAGCTGGCCCAGGTCAGGTCCGCAAAGGCTTCTGAAGAAGAGGAAGGGCGAGTAGGGGCACCTGGACGCTGATGGTGGCCAGGATGCTCAGCTGGCCAGGAGGGCAGCACCTGCTGGGGACGGTGGCCCTGCCTTCATGCCCAGGACACCAGCTGGGTCCAGCTAGCAGCCACTGGGAATCAGAGGAATGGGGCAGAGCTGGGCATTCAGGACCTTGAGGACACGTGACCCCACCCGCCCACCGCCACTATCAGGCCCCGGGACCGCACTGACAGGAAACCTTCCGTCGTGAGGGAGCACTTCCCAGGGGCCGCAGGGACGACACTCTCCAGGGAGGCCCCAGCAACCACACCATCTTCTTGCTGTGAGAGGTCTCACCCCGGGCTACCTCCTGTCACTACTCACTGCCCTGGGGTCCGTGGGCAAGTTGCCCAGGGTGGGGGTGCCTAGCCAGGTGCAGTCCCCGCCCCGCCTAGTCCTCGGCGTCACGCAATGCTCACCTCGCCTCTTCCCCACTAACATCCCAGACTTTAAAATTCAGTAAATCAGATGTACACCGAGCCTGCAGTCTCGCTAGGATGCTTTACTCCTCCACAAACAGCAGCCGCCGACAGGACAGCTTGTGAACGTCTCCGCCTTTTGGGGTGTCCGGGGAGAGGAGGTGGAGCTGTCCCCTCCCAGTGTCAGGCCTCCTTGGTCCTCATGTGCACCTTTTATTCAGAGAGCTTGGGCCCCCTTCCTTTGGAGCTGGGCCCAGGGCAGGTGGCTGGAATGCAGAGGACAAGGGGGCTGGGGCCTCTGCAGGGCCATTCCCACCGCAGTCTCTGCCACGGCCCGGAGCCCTGGGCCCAGGGCCACGCGGGCTCCCTCTGCTGGCAAAGCCACACCCTGCACCGCATGGGGTCCACTGCCCCTTTCCCCACGTGGACTCTGCGTGACCCCAGGAACTGCAGCATTGAGGTGGTCTCAGTCCCTCCCTCAGGTCTGGTGGGCATTGTGCCAGGGGCCACCTTCGGGACAGCTGGCCTTGGCACCGTCTCCCAAGAACCCAGCTCTGTGCATCCCGTGGCCCCACCAGAAACCCAAGGCCACACCGCCCACCAGCTGGGTGTGGTCACCATTCATGGAGGGCCGGCTGGGGCCAGGCTCACCACGCAGAGTTTGCCCTCCGGTGTGATGATGCATGAGACACAGTAGGCCCCCCTGCCTGTGTGTGCAGGGGGTGTCTGTGGGGGGGCCCTGCTGGCTGGACTTTGGGTTTCTCCTGAGCTCCCCTTAGCCCCCAAGTCAGGCCACGGAGGCCTGAGTAGGACCCATGGGCTGTGTGTGTCACTGCAGGTGGCGTGCTCACAACTGCACTGCTGGTCGGCAGGTGGC
|
TGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGGCCCGGTGAGGCAGGGCCGGGGGCTTCGGGCCCGGAGTCGGGGGCTGGGCCGGCCCCCACGCAGCTCGCCGCCCTCCCCGCCCCAGAGGAGGCCGGGCCAGAGCGCATCGTCATCTCCCACGCCCGGCCGCGCAGCCTCCGCGTGAGTTGGGCCCCAGCGCTGGGCTCAGCCGCGGCGCTCGGCTAGCTACCACGTGCAGTTCGGGCCGCTGCGGGGCGGGGAGGCGCAGCGGGTGGAGGTGCCCGCGGGCCGCAACTGCACCACGCTGCAGGGCCTGGCGCCGGGCACCGCCTACCTGGTGACCGTGACCGCCGCCTTCCGCTCGGGCCGCGAGAGCGCGCTGTCCGCCAAGGCCTGCACGCCCGACGGCCCGCGCCCGCGCCCACGCCCCGTGCCCCGCGCCCCGACCCCGGGGACCGCCAGCCGTGAGCCGTAAGCCGGCGTCCCCGCCCAGCCGAGAGGGCCGGCGCCTACCTGAGGGCCCCTGTGTCCCGAACCCGGAGCGGAGGCGCCCAACCCGGCAGACGGGTGCAGGCCCGGCCTTTCCCCACGCGGACTCCGCGCGACCCCGGCCCTCTCCCTGCGGCCGCAGGGCTTCCCCGCCTGGCGCCTGCCCTCCAGGGCTGGGGCCTCGCCTGGCGGGACCCCGCAGCAGCCCCGGCCCCATCCCCGCCCAGAGCCGGGCGTCGTGTGGGTCCGTGGGTGATAATTGAGAGCGTCAGACCCAGGACTGTTCAGGGAGGAGCCCCGGTCAGACTCCCACGTGTGAAGACCGGGCCCCAAGTGGCAAGGGCTGGCCTGGGGCGGGCAGCTTGGGTCCTGGACGTTGATAGGAAGCGGAAGGGGAATCGCGGGAAGCTGGCCCAGGTCAGGTCCGCAAAGGCTTCTGAAGAAGAGGAAGGGCGAGTAGGGGCACCTGGACGCTGATGGTGGCCAGGATGCTCAGCTGGCCAGGAGGGCAGCACCTGCTGGGGACGGTGGCCCTGCCTTCATGCCCAGGACACCAGCTGGGTCCAGCTAGCAGCCACTGGGAATCAGAGGAATGGGGCAGAGCTGGGCATTCAGGACCTTGAGGACACGTGACCCCACCCGCCCACCGCCACTATCAGGCCCCGGGACCGCACTGACAGGAAACCTTCCGTCGTGAGGGAGCACTTCCCAGGGGCCGCAGGGACGACACTCTCCAGGGAGGCCCCAGCAACCACACCATCTTCTTGCTGTGAGAGGTCTCACCCCGGGCTACCTCCTGTCACTACTCACTGCCCTGGGGTCCGTGGGCAAGTTGCCCAGGGTGGGGGTGCCTAGCCAGGTGCAGTCCCCGCCCCGCCTAGTCCTCGGCGTCACGCAATGCTCACCTCGCCTCTTCCCCACTAACATCCCAGACTTTAAAATTCAGTAAATCAGATGTACACCGAGCCTGCAGTCTCGCTAGGATGCTTTACTCCTCCACAAACAGCAGCCGCCGACAGGACAGCTTGTGAACGTCTCCGCCTTTTGGGGTGTCCGGGGAGAGGAGGTGGAGCTGTCCCCTCCCAGTGTCAGGCCTCCTTGGTCCTCATGTGCACCTTTTATTCAGAGAGCTTGGGCCCCCTTCCTTTGGAGCTGGGCCCAGGGCAGGTGGCTGGAATGCAGAGGACAAGGGGGCTGGGGCCTCTGCAGGGCCATTCCCACCGCAGTCTCTGCCACGGCCCGGAGCCCTGGGCCCAGGGCCACGCGGGCTCCCTCTGCTGGCAAAGCCACACCCTGCACCGCATGGGGTCCACTGCCCCTTTCCCCACGTGGACTCTGCGTGACCCCAGGAACTGCAGCATTGAGGTGGTCTCAGTCCCTCCCTCAGGTCTGGTGGGCATTGTGCCAGGGGCCACCTTCGGGACAGCTGGCCTTGGCACCGTCTCCCAAGAACCCAGCTCTGTGCATCCCGTGGCCCCACCAGAAACCCAAGGCCACACCGCCCACCAGCTGGGTGTGGTCACCATTCATGGAGGGCCGGCTGGGGCCAGGCTCACCACGCAGAGTTTGCCCTCCGGTGTGATGATGCATGAGACACAGTAGGCCCCCCTGCCTGTGTGTGCAGGGGGTGTCTGTGGGGGGGCCCTGCTGGCTGGACTTTGGGTTTCTCCTGAGCTCCCCTTAGCCCCCAAGTCAGGCCACGGAGGCCTGAGTAGGACCCATGGGCTGTGTGTGTCACTGCAGGTGGCGTGCTCACAACTGCACTGCTGGTCGGCAGG
|
pathogenic
| 377 |
The chromosome 1, position 2406525 genetic variant in gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
AAAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGC
|
AAAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCNNNNNNNNNNNNN
|
pathogenic
| 758 |
Classify the chromosome 1 variant at position 2406527 affecting gene PEX10 (peroxisomal biogenesis factor 10) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7']
|
AGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAG
|
AGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCA
|
pathogenic
| 759 |
Variant at chromosome position 2406580, chromosome 1, gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders']
|
GCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCC
|
GCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCNN
|
pathogenic
| 764 |
Considering the variant on chromosome 1, location 2406599, involving gene PEX10 (peroxisomal biogenesis factor 10), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
|
GTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACG
|
GTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGNN
|
pathogenic
| 765 |
Is chromosome 1, position 2406734, gene PEX10 (peroxisomal biogenesis factor 10) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
|
TCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCG
|
TCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGN
|
pathogenic
| 771 |
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome 1, position 2406739—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
|
GCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCG
|
GCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGNN
|
pathogenic
| 772 |
Regarding the variant found on chromosome 1 at position 2406791 in gene PEX10 (peroxisomal biogenesis factor 10): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['PEX10-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders']
|
CACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTC
|
CACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACT
|
pathogenic
| 775 |
Is the genetic variant on chromosome 1, position 2406792, gene PEX10 (peroxisomal biogenesis factor 10), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
|
ACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCC
|
ACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCNNNNNNNNNNNN
|
pathogenic
| 776 |
A genetic variant at chromosome 1, position 2406931, affecting gene PEX10 (peroxisomal biogenesis factor 10)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
|
TTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTG
|
TTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGNN
|
pathogenic
| 781 |
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome 1, position 2408464—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
TGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGA
|
TGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGAN
|
pathogenic
| 785 |
Evaluate this variant at chromosome 1, position 2408500, gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
CACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCA
|
CACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGTGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAN
|
pathogenic
| 786 |
Chromosome 1, position 2408555, gene PEX10 (peroxisomal biogenesis factor 10): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Spastic_ataxia']
|
TGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCT
|
TGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGAGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTN
|
pathogenic
| 788 |
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome position 2408628 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
CAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGC
|
CAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAG
|
pathogenic
| 791 |
Clinical significance of chromosome 1, position 2408635, gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
TTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTC
|
TTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCC
|
pathogenic
| 792 |
Does the genetic variant at chromosome 1, position 2408688, impacting gene PEX10 (peroxisomal biogenesis factor 10), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
CGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGG
|
CGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGN
|
pathogenic
| 794 |
Determine whether the variant at chromosome 1, position 2408689, in gene PEX10 (peroxisomal biogenesis factor 10) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
GTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGA
|
GTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCCAGGGGCCCACTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGANNNNNNNN
|
pathogenic
| 795 |
Evaluate the clinical significance of the mutation at chromosome 1, position 2408713 in gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
TCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATT
|
TCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTN
|
pathogenic
| 797 |
Considering the variant on chromosome 1, location 2408756, involving gene PEX10 (peroxisomal biogenesis factor 10), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
CCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCC
|
CCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCN
|
pathogenic
| 800 |
Is the genetic variant on chromosome 1, position 2410405, gene PEX10 (peroxisomal biogenesis factor 10), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Inborn_genetic_diseases', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
AGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCC
|
AGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCNN
|
pathogenic
| 804 |
The mutation impacting PEX10 (peroxisomal biogenesis factor 10) on chromosome 1 at position 2412475: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
|
CTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGG
|
CTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTGGCGGCGCAGGTGCTGGCGGGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTG
|
pathogenic
| 807 |
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome position 2412476 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
|
TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGC
|
TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGG
|
pathogenic
| 808 |
Does the variant impacting PEX10 (peroxisomal biogenesis factor 10) on chromosome 1, position 2412476, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
|
TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGC
|
TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCN
|
pathogenic
| 810 |
Determine whether the variant at chromosome 1, position 2412494, in gene PEX10 (peroxisomal biogenesis factor 10) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
|
TCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTC
|
TCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCN
|
pathogenic
| 811 |
Regarding the variant found on chromosome 1 at position 2412498 in gene PEX10 (peroxisomal biogenesis factor 10): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['PEX10-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders']
|
ACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTAT
|
ACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATN
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pathogenic
| 813 |
Evaluate if the mutation on chromosome 1 at position 3396467 in PRDM16 (PR/SET domain 16) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
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AGAAGCAGGGAGTGCGGGAGGATGCCCGAGGTCTCACGTCAGGACCCTCGACGGGGGTGGGGTGGAGAGGGAGGTGGTGGGTGGGGTGGGTGGTGCGGCCTGGAGTGGAGCCAAGGGGCGGGCGGCCAGGGTCCACATTGCCCTCTAACGGGACCCCTCGAGAAGCCTCAGCCTCGCCCGCTGACCCTCCTCTCTCCTGCCCAGGGCCCGGGCCAGGCCACCTGCCCCACGGGCATCAGCCAGGCCGGGCAGTCACTCAGCAGCCCCTTCCACTTGCGCCTGCTACAATGCCACTCACGGCACCGCTCAGAGGGTCACCCGGGCTTTGTCCCAGCTGGCGCTTCTCATCCCGCACTTTGGGCCCGATTTTCTAATACAGTGGCTCAAGTTTCTTTTTTAAAAAAGAGACAATGATTCAGCCACTGTGTGATTTTTTTTTTTGATAAGATGATACAAAACTGGGGTCCTAATAATAATGGGTTTAATTGAAGAAGTTACCATGGGCCAGTTTCTCCTCTCCACTTTTACATCTCCTCATAATTTTAGCAACTTACCTGACGCCCCATAAGGGAACTTCACACACTACTGACAGAGGCCGTGCACCTGCCTGTCCTCCTTCGTGCAGTTCCTGTCTGGGTGTCTTGGGAGTAGCAGACACTGGGCATTACCGTCACGCTGTGACTTATGTGTGTCTTTTGAGAGTTCCTTGGTGTCATTCTGGAGTCAGTTGGGACTGGCAGATTGTAGTGAAATTCACAATGTGGGGGACATGGGGGAGGAGCATGCAGGGGCCACACCCAGCCCTGTCTCGGGGGTGCCCAGCTGTGTCCAGCCACAGACCCCAGCCAGGTCCAGGTGCTGGAGAGCCTGGCCTGACACAGGATGGTCAGTGGGGATGGGAGTGTCACCCACAAGGATGGCCACGTCCCCTCAATCCCTGGGAGCCCTTCCCTTTCTGAGTCTAGACCCACTCTGTTTTCTTGGAGGAGCCTCAGCCCCAGGTCTCGCAGGGGCAGGTGGATTTCCCTTGGGCCTCTCCCCAGCCTCACAGCCAGTCCTCCGGCCAGGCCTGCAGTTCCCTGGAAGCTCCCCAGTTACTGTGATCAGAAGAGAGTCTCAAACACCCACATGTGCAGGGTGGGCAGTGACTCCCCCAAGAGAAACACACCTGCCGCCAGACACTCCCGGACCGAAGACACAGGGTTCCTTGTGCTGGCGGCATGGCCCGTGCCCTGGCCCAGGCCTCAGATGGCCTGGCCTCCCCTTTGTGAACTGCTAATTTTCTTCATCTCGACCACCACTTCCACACCCCAAGACAACCTCCTCTTTTCAGGAGGCCCCTGGCAAGCTGCAGTGACACAGCCCCCAACAGCACTGCTCAGTGAGCAGAGTTCCAAATGGAGGTCCCCTCGCCCCCAGGGCTTGACCAGGCTGCAGAATCTACCTGAGCCCACCAGTTCTCAAGGGTGTCCTCCATCCCAGACTCCCGCCTGTGGGGTCAGCAGCAAGGCGCCAAGCTGACAGTGGGCACACAGTCCTGCCCGCCCCAGCCTTCCTGGCTCATGGCATCCCCGCTCCTGGGAGAACCGCAGCCCCATGTCCTGACTCACTGGCCAGGCGCAGCTCATGGCCACTTTCAGAAACAACCAGATTCACTCCACACCCTGAGCTCCCCCTCCCCCGCCGCCACTGGCAAAGCGGGTCTCACTTACATACACAAAATGGAACAAAAGAAACTTGAGAACCCACCCAGGTGGGCTCTTGGTGGAAGCGGGGCTCTGCTGTGCCCCCAGGACACCCCCAGCTGGGAACTTTCATGTGGATCCTACCTGTTTAGTCGGCCACCCCCTTTATGAATATCCTAAAACCCAATAAAGCAAATTAAAAGGGGACGCAATTCCTTCTGCGCATACTCTGCAAAAGTTCCATAGTGGACCCTCTTGGTGGCAATTAGAGGAAAATCAAGTGCAGGCCGAGCTGCGTCCACAGTGTGAGGGCTGAGTGTGCACTGAGAGGCTCTCCAGACACCAACAAACCACACTCACCCTTTCTCTCTGGTCTCTCCATCCTAGATTTACTATAAAGTCATTAAGGACATTGAGCCAGGTGAGGAGCTGCTGGTGCACGTGAAGGAAGGCGTCTACCCCCTGGGCACAGTGCCGCCCGGCCTGGACGGTAAGACCCCTCCCCCAAACCGGGCCACGGCCCCTGGGAGCCCCCAGCCAGCCCGGAAGAGGAGCAGATGCCTGGGAGGACCGAGGGCCTCTCATCACCTCAAGCCACCTAATGAGGGCCAGGCGGCCCCCAAGTGCTAGGTGCCTCCATTTTTGCAGACCTCAGGCCAGCAGAAATTGCCCGCCTCCACAAAGGCTCAACCTAATGGCTTTCTTGTTCCTCTTCCCTGGGGCATCCAGGAGGTGCACCCAGAATTTAAGAAGGGCTTCGGGCAGTGGGCAAACTGGTATCCAGTGGATTATGTCTTTGCAATGTTAGGGTCCCAGGTGATTTTTTTAAGCTATGTTTTATTATTGCTATTATTCTTATTAGCAGCAGCAACAGCAGCCTTTGCTTTCCCTGGTACTTAAATGAACGAACAAACAAACACCAAGCCAGTTTTGTAGCTTCGAAGCATTTCTGGCTGCCCCAGAGCTCTCTGTGGGGTGGGAAGATTTTGTTTCATTTAAGAGAGTGGATGATGGCATATGTATCTTTCAAAGCAAAATGTGCATCTGTAGCTAAAACTCCAAGAGAAGTGTTAGGGGAAGTTTCATTTGGCAAGAGGGAAAATGCGGGGTCTGAGGCGGGTCTCACAGTGATGCGGAGTCGCCCCGCTCTTCCAGACAGGGCTGTGGGAAGCCTTCCAAATTTCCTTTTCCCTAGATCTGCCAGTCCCTCTCTGTCGAGTAGAGATGGGACAAGTGAGTTTCCCTTTCACCTTCCTCCACACCCAAGTACAGCTGAGAGGATGCCTGAGAAAATTCCAGTCCCACACAGATGAGCTCTTCCCAGATACAGGCTCATTCCTGCCTTCACGTCATGAAGCCATGTGTCCGTTCCCCTACGGGGTCCTGGAACAGCCGGCCAGGAAAGGCTCTGTGGGCAGTGAGGCCCTGGCCCGTCGGCTCCACGCCGGTCCCTCTGAGCAGACGGCTCCAGGGTTCGAGCCTAACTGCTTTACTTTGGGAGGCCCCGCAAGTGAACAGGAACGCAAGCTCCCTCCTGGCCGTTTCCGGCGCTGGTGATTCCTGCTGGTGCTGGAGCCTGGAGGGAGGCTGAGTTTTCCTCCTCGCTTCTTGGACCTCCCCTTCAAACACACCAAGGCTTAGTGATTAATGCCATTTGCTGCAAGTTTCTCCAAGGAACCACTCTGATTTCACGGTGAAGGAATGGTGCTGGAATGAGCAGGAAGGCTTCGAGACCAGACATGGAGAACTCCGCCTTCATTTACCCTTGCCATCACCGAGCGTGGCCCAGCTAGCTGGGTCCTTCCTTGGTGCAGTATCTGTTTATGTCCCTGAGTGTCCGAAAGGAAATGACCACAGAAGGATAGTTTAACAAGCTGGAGCCTATCTGCAGCTTCCTCTAAAGTTTGGTTTTATTTAGGCCATTGAGAAAAGAAAAATCAATTGCCGAGATCTGGATAGCAGGGGGGAGGGCCTCATTTTCCTTAAAATAATTGTTGAAAAGATCTATGAATCTTAGACAGCGCACAAGAACGCCAAGAGACAAATCTACTTGACTTAAGGAGAGTGCTTGACTATGGAATTTCATTTGTACGATGAAATTTCTTTCTTCCAAAAGGTTTTTTAAAAACCTTGATTTCTGCTCCCCACCCCGCTCCAGCCCCTGATATTAAATAACCTGGGTCTACATTTTCCTAATAATTTATCAAACATTTGTGGGCTAATTGCTTGCCACACATAATAGCCCAACATCAAATATTTGACTTTCCCTACTCTTTCCTGTCAAGATCATGCCTCCCCAATAGCCGCCTCCCCCACCAGTTAAACTCTGAATCGCACAGAAAGAAAATGCAAAAATGTTCCTCACTAAGATAATTATCATAAAAAATCTTTTATCCCAACCCCAGCTCAAT
|
AGAAGCAGGGAGTGCGGGAGGATGCCCGAGGTCTCACGTCAGGACCCTCGACGGGGGTGGGGTGGAGAGGGAGGTGGTGGGTGGGGTGGGTGGTGCGGCCTGGAGTGGAGCCAAGGGGCGGGCGGCCAGGGTCCACATTGCCCTCTAACGGGACCCCTCGAGAAGCCTCAGCCTCGCCCGCTGACCCTCCTCTCTCCTGCCCAGGGCCCGGGCCAGGCCACCTGCCCCACGGGCATCAGCCAGGCCGGGCAGTCACTCAGCAGCCCCTTCCACTTGCGCCTGCTACAATGCCACTCACGGCACCGCTCAGAGGGTCACCCGGGCTTTGTCCCAGCTGGCGCTTCTCATCCCGCACTTTGGGCCCGATTTTCTAATACAGTGGCTCAAGTTTCTTTTTTAAAAAAGAGACAATGATTCAGCCACTGTGTGATTTTTTTTTTTGATAAGATGATACAAAACTGGGGTCCTAATAATAATGGGTTTAATTGAAGAAGTTACCATGGGCCAGTTTCTCCTCTCCACTTTTACATCTCCTCATAATTTTAGCAACTTACCTGACGCCCCATAAGGGAACTTCACACACTACTGACAGAGGCCGTGCACCTGCCTGTCCTCCTTCGTGCAGTTCCTGTCTGGGTGTCTTGGGAGTAGCAGACACTGGGCATTACCGTCACGCTGTGACTTATGTGTGTCTTTTGAGAGTTCCTTGGTGTCATTCTGGAGTCAGTTGGGACTGGCAGATTGTAGTGAAATTCACAATGTGGGGGACATGGGGGAGGAGCATGCAGGGGCCACACCCAGCCCTGTCTCGGGGGTGCCCAGCTGTGTCCAGCCACAGACCCCAGCCAGGTCCAGGTGCTGGAGAGCCTGGCCTGACACAGGATGGTCAGTGGGGATGGGAGTGTCACCCACAAGGATGGCCACGTCCCCTCAATCCCTGGGAGCCCTTCCCTTTCTGAGTCTAGACCCACTCTGTTTTCTTGGAGGAGCCTCAGCCCCAGGTCTCGCAGGGGCAGGTGGATTTCCCTTGGGCCTCTCCCCAGCCTCACAGCCAGTCCTCCGGCCAGGCCTGCAGTTCCCTGGAAGCTCCCCAGTTACTGTGATCAGAAGAGAGTCTCAAACACCCACATGTGCAGGGTGGGCAGTGACTCCCCCAAGAGAAACACACCTGCCGCCAGACACTCCCGGACCGAAGACACAGGGTTCCTTGTGCTGGCGGCATGGCCCGTGCCCTGGCCCAGGCCTCAGATGGCCTGGCCTCCCCTTTGTGAACTGCTAATTTTCTTCATCTCGACCACCACTTCCACACCCCAAGACAACCTCCTCTTTTCAGGAGGCCCCTGGCAAGCTGCAGTGACACAGCCCCCAACAGCACTGCTCAGTGAGCAGAGTTCCAAATGGAGGTCCCCTCGCCCCCAGGGCTTGACCAGGCTGCAGAATCTACCTGAGCCCACCAGTTCTCAAGGGTGTCCTCCATCCCAGACTCCCGCCTGTGGGGTCAGCAGCAAGGCGCCAAGCTGACAGTGGGCACACAGTCCTGCCCGCCCCAGCCTTCCTGGCTCATGGCATCCCCGCTCCTGGGAGAACCGCAGCCCCATGTCCTGACTCACTGGCCAGGCGCAGCTCATGGCCACTTTCAGAAACAACCAGATTCACTCCACACCCTGAGCTCCCCCTCCCCCGCCGCCACTGGCAAAGCGGGTCTCACTTACATACACAAAATGGAACAAAAGAAACTTGAGAACCCACCCAGGTGGGCTCTTGGTGGAAGCGGGGCTCTGCTGTGCCCCCAGGACACCCCCAGCTGGGAACTTTCATGTGGATCCTACCTGTTTAGTCGGCCACCCCCTTTATGAATATCCTAAAACCCAATAAAGCAAATTAAAAGGGGACGCAATTCCTTCTGCGCATACTCTGCAAAAGTTCCATAGTGGACCCTCTTGGTGGCAATTAGAGGAAAATCAAGTGCAGGCCGAGCTGCGTCCACAGTGTGAGGGCTGAGTGTGCACTGAGAGGCTCTCCAGACACCAACAAACCACACTCACCCTTTCTGGTCTCTCCATCCTAGATTTACTATAAAGTCATTAAGGACATTGAGCCAGGTGAGGAGCTGCTGGTGCACGTGAAGGAAGGCGTCTACCCCCTGGGCACAGTGCCGCCCGGCCTGGACGGTAAGACCCCTCCCCCAAACCGGGCCACGGCCCCTGGGAGCCCCCAGCCAGCCCGGAAGAGGAGCAGATGCCTGGGAGGACCGAGGGCCTCTCATCACCTCAAGCCACCTAATGAGGGCCAGGCGGCCCCCAAGTGCTAGGTGCCTCCATTTTTGCAGACCTCAGGCCAGCAGAAATTGCCCGCCTCCACAAAGGCTCAACCTAATGGCTTTCTTGTTCCTCTTCCCTGGGGCATCCAGGAGGTGCACCCAGAATTTAAGAAGGGCTTCGGGCAGTGGGCAAACTGGTATCCAGTGGATTATGTCTTTGCAATGTTAGGGTCCCAGGTGATTTTTTTAAGCTATGTTTTATTATTGCTATTATTCTTATTAGCAGCAGCAACAGCAGCCTTTGCTTTCCCTGGTACTTAAATGAACGAACAAACAAACACCAAGCCAGTTTTGTAGCTTCGAAGCATTTCTGGCTGCCCCAGAGCTCTCTGTGGGGTGGGAAGATTTTGTTTCATTTAAGAGAGTGGATGATGGCATATGTATCTTTCAAAGCAAAATGTGCATCTGTAGCTAAAACTCCAAGAGAAGTGTTAGGGGAAGTTTCATTTGGCAAGAGGGAAAATGCGGGGTCTGAGGCGGGTCTCACAGTGATGCGGAGTCGCCCCGCTCTTCCAGACAGGGCTGTGGGAAGCCTTCCAAATTTCCTTTTCCCTAGATCTGCCAGTCCCTCTCTGTCGAGTAGAGATGGGACAAGTGAGTTTCCCTTTCACCTTCCTCCACACCCAAGTACAGCTGAGAGGATGCCTGAGAAAATTCCAGTCCCACACAGATGAGCTCTTCCCAGATACAGGCTCATTCCTGCCTTCACGTCATGAAGCCATGTGTCCGTTCCCCTACGGGGTCCTGGAACAGCCGGCCAGGAAAGGCTCTGTGGGCAGTGAGGCCCTGGCCCGTCGGCTCCACGCCGGTCCCTCTGAGCAGACGGCTCCAGGGTTCGAGCCTAACTGCTTTACTTTGGGAGGCCCCGCAAGTGAACAGGAACGCAAGCTCCCTCCTGGCCGTTTCCGGCGCTGGTGATTCCTGCTGGTGCTGGAGCCTGGAGGGAGGCTGAGTTTTCCTCCTCGCTTCTTGGACCTCCCCTTCAAACACACCAAGGCTTAGTGATTAATGCCATTTGCTGCAAGTTTCTCCAAGGAACCACTCTGATTTCACGGTGAAGGAATGGTGCTGGAATGAGCAGGAAGGCTTCGAGACCAGACATGGAGAACTCCGCCTTCATTTACCCTTGCCATCACCGAGCGTGGCCCAGCTAGCTGGGTCCTTCCTTGGTGCAGTATCTGTTTATGTCCCTGAGTGTCCGAAAGGAAATGACCACAGAAGGATAGTTTAACAAGCTGGAGCCTATCTGCAGCTTCCTCTAAAGTTTGGTTTTATTTAGGCCATTGAGAAAAGAAAAATCAATTGCCGAGATCTGGATAGCAGGGGGGAGGGCCTCATTTTCCTTAAAATAATTGTTGAAAAGATCTATGAATCTTAGACAGCGCACAAGAACGCCAAGAGACAAATCTACTTGACTTAAGGAGAGTGCTTGACTATGGAATTTCATTTGTACGATGAAATTTCTTTCTTCCAAAAGGTTTTTTAAAAACCTTGATTTCTGCTCCCCACCCCGCTCCAGCCCCTGATATTAAATAACCTGGGTCTACATTTTCCTAATAATTTATCAAACATTTGTGGGCTAATTGCTTGCCACACATAATAGCCCAACATCAAATATTTGACTTTCCCTACTCTTTCCTGTCAAGATCATGCCTCCCCAATAGCCGCCTCCCCCACCAGTTAAACTCTGAATCGCACAGAAAGAAAATGCAAAAATGTTCCTCACTAAGATAATTATCATAAAAAATCTTTTATCCCAACCCCAGCTCAATNNNN
|
benign
| 873 |
Regarding the variant at chromosome 1 and position 3402771, affecting gene PRDM16 (PR/SET domain 16): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
AACCAGTGCTTTCCTGAGGTTCAGGTCAGTGAGCAGGGCCAGGATGCCTGGACACCGGCTGAGAACGAAATCACAGTGTTTGGTGCATCTTGACCAGCAGTGGTGCCTGCCCACTCACCCCCAATGCACACACCCCTGGGGCTCCTCTCGGCCAGACACCCCTTCCCTGTCAGCCAGATACTTACCTCTGTCCAAAGACGGCACCAAAAATCACATCTGGCAAGCTGGCATCTGTACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCCCACCTTGGGCACCTGAGGCTCAGGGAGCCAGGCTCTGAGGACCCGCCAGGGGTGCTGGGGTGGCCCAGGCCAAATAGCAGCATCTCTACCCTTAGGCTCAGGGAAGCTTCCAGTCAGCAAGGAGGTGCCACTTCTGGTAACCCCTGCACTGCCCAGACTGCAAAGCAGCCCACACTTTCCTTAGGACTCTAAAAGGCCTATGACCGTGGTGGTCTCTCTGACACAGGGAGGGGACAGGAAGTGACAGCCCTCTTCCATCTGCCCCCATCCCCCCGTCTCCGCGGCAATCCTTAGGTTCAGGCCTTTGAGTCAACGTTCAGACCAAGCTCATGAAGACTCTGCTCAATGCTGGGCACTGGGTCAGTCCTCGTGCACGTGCATACACACCCAAACACACATTCCCACAAGCACCCAAATGCACACACACAAATTGCATGCATACACACATCACATGCACACAAACACAAACATGCACGTTAGCATACACACATTCATATACAAGCATGTGTACACATATTCATGCCTGCACAACTACACACCCATTGGCGCACACACACACAAACCAACACACAATGTGCGTGTTCACACACATATTCACATGCACATGTGTGCACATCAAACACATATGCACACACAACATAGCCACCCATGCGCACGAACATATATGTATAATATGCACGTATGCATACATAACACAAATGCACACACATGCAGACAGAAACACGTGCATTCACACATGCAAAGTATGCACCCACATGAACACACAGATGCACACATGCCTCAACACAAAGGCATCCACAAACCACACATGTGCAAGTATGAAAACACACCAGTGCACACAAATATTCACGCATGTAGGTGCATGCAGAAACACATGCATCCTCACACACATGCACATGAGTACCCATGCAGGCCCACACAAACATGGGTGTAAGTGCATAGACATGCACACACAGTCACACAAAAATGCACAGACATGGATGCAGATATGCTGAGATATTCACACTTACGTGTGCATACACAGCTGCCTGCTCATGCCCAAGACGCCCCCGTGCACTCACACACTGGTGCACACACCATTGTTCAATTCATTTGGGAAAGAGCTCAGTGCCAGCGTTCTTTCCAGAGCCGGGGGGATGAGGCATCTTGTTGGGGGGGTCTCCCGTCTTAGGTGGAAGGCTGCTGCCCAGCTGCTACAGGCAGGGGAGGCAGGGACGGGCCCAGAGCCCCCCACCGGGATGACAGCTCCAGGCTGATTGTTTGGCTTGGCAAGGCAGTCAGGATGCTGCCTCGTAAACTTAATAATAGCTGCCCCCCTTTTAATTTGTTTGACCTTGACGACAATAATTTATTATATGCACTGGAGCTCTGTCATCGTTTTTCTCCTGATTCATAAACAAAGCACTTGGCCCGGCTTCCTCCTCCACTCCCGAGCGGGGCCTTCTCCAGCCCACAGTGGCTGCCTGAGGCACAGGCAGGGCCGGGTGTCGCCCGGGGCTCCCTCTGAGGCACAGATTGGGGGGTCCTTTGGTCCTGCCCAGGGCTGGGCCCTGGGGACTCCACATGCCTGTTTCCAGGGCAGGCTGGTGGGCCCCAAGTTGAAGGCTGGAAGGAAGCAGTGCAGGACTGGCCAGCCTGGGTGCAGGCCCTGAGGCACCGTGGTGAGGGGGCCAGGTCTCCAGAGTCCCCTGATAGCCCTGGGCTGGGTCTCCAGCTCACTCACCACCACCTCGTTCTCTCTCTTGCAGAGGAGCCCACGTTCCGCTGTGACGAGTGTGACGAACTCTTCCAGTCCAAGCTGGACCTGCGGCGCCATAAGAAGTACACGTGTGGCTCAGTGGGGGCTGCGCTCTACGAGGGCCTGGCTGAGGAGCTCAAGCCCGAGGGCCTTGGCGGTGGCAGCGGCCAAGCCCACGAGTGCAAGGACTGCGAGCGGATGTTCCCCAACAAGTACAGGTGCCACGCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCTCCCTTCCCCCGCCTCGCCCCCCAACAGGTGTAGACAAAGGGCCCCCTGGTGGGACACACCCTGGGGATATGTGCCCCTTCTGGGACACTGGCGCTGCGGGCAGAGCAGGTGCAGGATCCCGTGGCCAGAGCCGCAGGTGTCCCCTGGCTCCGACCGCAAATGTCCTGGCCCCAGAAAGCCACCTCCTAGGCTCATGGCCCTGCCTGCCAGGGCTGCGCTGCGGGGAGAAACTAGAAAGGAGAAAAACTCAGGCCAGAGCCCAGACCTGCAGCCGCTAAGCCCAAGGCTACTTCTGTAATAAGGTCCCAGACCGGGATGGGGGTGGCAGCACCCACCACCAAGGGATTCATGGTGGCCCCACCCTCCGGACACACGAGCAGCTCCTTCTCAGATGGTAGGCAAGAGCCAGAAGGGGTCACCCCTATCCCCAAGGCACCAGCCCTGCTCCCCACCAGGTGGCAGCGGACTGTCCCAGGAGGGGCTTCAGAGACATGAGCGGGCCCACGGTGGCCCTCCCCTGCCCTGAGACCAGGCAGGAGCCAGCATCTGGGGCCTGGGCGGCCTTGGGGACCTGTGGCCCCCGGGAAAGACAAGATTCCTGGTCTCTGTGGGGAGTGAAACCAGGACATTCAGTCCAGTGCTGTAAGGAGCTATGGAGACTTTTCCAACCTGGGCCCCTCCTCCTGCCTTTGAGGATTTCCTCCAGGACAGCCTCGCAAAGTCAGAGCAAAGCCCATCAGGCCACTAACCGGCTATGTGATTGCTGGGGATTACCGCCCATCCCCGCACCGCTCCCTGGGGACGGCAAACCCTCCACCCGGAACAGATGACTGAGAAAATAAACGTTTGGGCAAATCCCAACTGCGGCCCTTCCCAGTAAACGCCGCTCAAGAGGGTCCGTGTTTTCTTTACATAAACACATAAATCACAATTAACAACGGGGGAAAAGATACAGTCTCCTGATGCTCGGGAACCAGGCGTTTCTGATCTGAATGGATGGCTGGGCCCCGTAATTAACGAGCCGTGATATATCACTGCTTTGCTCATGAAGATTAACGGTCATCCCTGGGACAAGGGAAGCCGGGGGTCCCCCAAGAGCAGGGAATTAGAGCGACTCCTTCATCCAAGTGCAGCGGCCCCTCCGAGCAGCTGTGCTCGGGTCCCCTCCGTGTCACCTGGAGACCCCCGAGTGACTCCCGACCTGCGTCCTCGGTGTGTGCCCAGCACTCAGAGGGGCATCCTTGGGTTTGGGGGACTTGCCCCACTCCTGGGTTCATGCCAGTGTTGAACCCCTTTTTTCTTAGGCCCAAGCCTAGCTGCAAGGCCAGGACCAGCTTGAGAGGCACCCAGGGAGTGTGGGCCGGGGTCCGGCACTGCCTCCAGCCGCCCTGGGGGTGGTCTTGGGTGAGGGATGGAACCATCCAGGTGCCGGCTTCCCCATCTGCTAGGGGAAGGCCGCCTCTGCCCCTCACAGCCCGGCCACGGCAGAGAGGAGGTGGGCAGGGAGACACCAGCATGTGCTCTGATCCCTCGGCAGCGTGGTGGGGGCTCCGAAGGGGCACTGGGAACAAGCTGTATGGTTGGGGTCCCCTCCCGGGCAGAGGGCAGGTAGTCGGGCCCCGCAGTGAGCCTCGTCCTCTGCGCAGCCTGGAGCAGCACATGGTCATCCACACGGAGGAGCGCGAGTACAAATGCGACCAGTGTCCCAAGGCCTTCAACTGGAAGT
|
AACCAGTGCTTTCCTGAGGTTCAGGTCAGTGAGCAGGGCCAGGATGCCTGGACACCGGCTGAGAACGAAATCACAGTGTTTGGTGCATCTTGACCAGCAGTGGTGCCTGCCCACTCACCCCCAATGCACACACCCCTGGGGCTCCTCTCGGCCAGACACCCCTTCCCTGTCAGCCAGATACTTACCTCTGTCCAAAGACGGCACCAAAAATCACATCTGGCAAGCTGGCATCTGTACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCCCACCTTGGGCACCTGAGGCTCAGGGAGCCAGGCTCTGAGGACCCGCCAGGGGTGCTGGGGTGGCCCAGGCCAAATAGCAGCATCTCTACCCTTAGGCTCAGGGAAGCTTCCAGTCAGCAAGGAGGTGCCACTTCTGGTAACCCCTGCACTGCCCAGACTGCAAAGCAGCCCACACTTTCCTTAGGACTCTAAAAGGCCTATGACCGTGGTGGTCTCTCTGACACAGGGAGGGGACAGGAAGTGACAGCCCTCTTCCATCTGCCCCCATCCCCCCGTCTCCGCGGCAATCCTTAGGTTCAGGCCTTTGAGTCAACGTTCAGACCAAGCTCATGAAGACTCTGCTCAATGCTGGGCACTGGGTCAGTCCTCGTGCACGTGCATACACACCCAAACACACATTCCCACAAGCACCCAAATGCACACACACAAATTGCATGCATACACACATCACATGCACACAAACACAAACATGCACGTTAGCATACACACATTCATATACAAGCATGTGTACACATATTCATGCCTGCACAACTACACACCCATTGGCGCACACACACACAAACCAACACACAATGTGCGTGTTCACACACATATTCACATGCACATGTGTGCACATCAAACACATATGCACACACAACATAGCCACCCATGCGCACGAACATATATGTATAATATGCACGTATGCATACATAACACAAATGCACACACATGCAGACAGAAACACGTGCATTCACACATGCAAAGTATGCACCCACATGAACACACAGATGCACACATGCCTCAACACAAAGGCATCCACAAACCACACATGTGCAAGTATGAAAACACACCAGTGCACACAAATATTCACGCATGTAGGTGCATGCAGAAACACATGCATCCTCACACACATGCACATGAGTACCCATGCAGGCCCACACAAACATGGGTGTAAGTGCATAGACATGCACACACAGTCACACAAAAATGCACAGACATGGATGCAGATATGCTGAGATATTCACACTTACGTGTGCATACACAGCTGCCTGCTCATGCCCAAGACGCCCCCGTGCACTCACACACTGGTGCACACACCATTGTTCAATTCATTTGGGAAAGAGCTCAGTGCCAGCGTTCTTTCCAGAGCCGGGGGGATGAGGCATCTTGTTGGGGGGGTCTCCCGTCTTAGGTGGAAGGCTGCTGCCCAGCTGCTACAGGCAGGGGAGGCAGGGACGGGCCCAGAGCCCCCCACCGGGATGACAGCTCCAGGCTGATTGTTTGGCTTGGCAAGGCAGTCAGGATGCTGCCTCGTAAACTTAATAATAGCTGCCCCCCTTTTAATTTGTTTGACCTTGACGACAATAATTTATTATATGCACTGGAGCTCTGTCATCGTTTTTCTCCTGATTCATAAACAAAGCACTTGGCCCGGCTTCCTCCTCCACTCCCGAGCGGGGCCTTCTCCAGCCCACAGTGGCTGCCTGAGGCACAGGCAGGGCCGGGTGTCGCCCGGGGCTCCCTCTGAGGCACAGATTGGGGGGTCCTTTGGTCCTGCCCAGGGCTGGGCCCTGGGGACTCCACATGCCTGTTTCCAGGGCAGGCTGGTGGGCCCCAAGTTGAAGGCTGGAAGGAAGCAGTGCAGGACTGGCCAGCCTGGGTGCAGGCCCTGAGGCACCGTGGTGAGGGGGCCAGGTCTCCAGAGTCCCCTGATAGCCCTGGGCTGGGTCTCCAGCTCACTCACCACCACCTCGTTCTCGTTCTCTCTCTTGCAGAGGAGCCCACGTTCCGCTGTGACGAGTGTGACGAACTCTTCCAGTCCAAGCTGGACCTGCGGCGCCATAAGAAGTACACGTGTGGCTCAGTGGGGGCTGCGCTCTACGAGGGCCTGGCTGAGGAGCTCAAGCCCGAGGGCCTTGGCGGTGGCAGCGGCCAAGCCCACGAGTGCAAGGACTGCGAGCGGATGTTCCCCAACAAGTACAGGTGCCACGCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCTCCCTTCCCCCGCCTCGCCCCCCAACAGGTGTAGACAAAGGGCCCCCTGGTGGGACACACCCTGGGGATATGTGCCCCTTCTGGGACACTGGCGCTGCGGGCAGAGCAGGTGCAGGATCCCGTGGCCAGAGCCGCAGGTGTCCCCTGGCTCCGACCGCAAATGTCCTGGCCCCAGAAAGCCACCTCCTAGGCTCATGGCCCTGCCTGCCAGGGCTGCGCTGCGGGGAGAAACTAGAAAGGAGAAAAACTCAGGCCAGAGCCCAGACCTGCAGCCGCTAAGCCCAAGGCTACTTCTGTAATAAGGTCCCAGACCGGGATGGGGGTGGCAGCACCCACCACCAAGGGATTCATGGTGGCCCCACCCTCCGGACACACGAGCAGCTCCTTCTCAGATGGTAGGCAAGAGCCAGAAGGGGTCACCCCTATCCCCAAGGCACCAGCCCTGCTCCCCACCAGGTGGCAGCGGACTGTCCCAGGAGGGGCTTCAGAGACATGAGCGGGCCCACGGTGGCCCTCCCCTGCCCTGAGACCAGGCAGGAGCCAGCATCTGGGGCCTGGGCGGCCTTGGGGACCTGTGGCCCCCGGGAAAGACAAGATTCCTGGTCTCTGTGGGGAGTGAAACCAGGACATTCAGTCCAGTGCTGTAAGGAGCTATGGAGACTTTTCCAACCTGGGCCCCTCCTCCTGCCTTTGAGGATTTCCTCCAGGACAGCCTCGCAAAGTCAGAGCAAAGCCCATCAGGCCACTAACCGGCTATGTGATTGCTGGGGATTACCGCCCATCCCCGCACCGCTCCCTGGGGACGGCAAACCCTCCACCCGGAACAGATGACTGAGAAAATAAACGTTTGGGCAAATCCCAACTGCGGCCCTTCCCAGTAAACGCCGCTCAAGAGGGTCCGTGTTTTCTTTACATAAACACATAAATCACAATTAACAACGGGGGAAAAGATACAGTCTCCTGATGCTCGGGAACCAGGCGTTTCTGATCTGAATGGATGGCTGGGCCCCGTAATTAACGAGCCGTGATATATCACTGCTTTGCTCATGAAGATTAACGGTCATCCCTGGGACAAGGGAAGCCGGGGGTCCCCCAAGAGCAGGGAATTAGAGCGACTCCTTCATCCAAGTGCAGCGGCCCCTCCGAGCAGCTGTGCTCGGGTCCCCTCCGTGTCACCTGGAGACCCCCGAGTGACTCCCGACCTGCGTCCTCGGTGTGTGCCCAGCACTCAGAGGGGCATCCTTGGGTTTGGGGGACTTGCCCCACTCCTGGGTTCATGCCAGTGTTGAACCCCTTTTTTCTTAGGCCCAAGCCTAGCTGCAAGGCCAGGACCAGCTTGAGAGGCACCCAGGGAGTGTGGGCCGGGGTCCGGCACTGCCTCCAGCCGCCCTGGGGGTGGTCTTGGGTGAGGGATGGAACCATCCAGGTGCCGGCTTCCCCATCTGCTAGGGGAAGGCCGCCTCTGCCCCTCACAGCCCGGCCACGGCAGAGAGGAGGTGGGCAGGGAGACACCAGCATGTGCTCTGATCCCTCGGCAGCGTGGTGGGGGCTCCGAAGGGGCACTGGGAACAAGCTGTATGGTTGGGGTCCCCTCCCGGGCAGAGGGCAGGTAGTCGGGCCCCGCAGTGAGCCTCGTCCTCTGCGCAGCCTGGAGCAGCACATGGTCATCCACACGGAGGAGCGCGAGTACAAATGCGACCAGTGTCCCAAGGCCTTCAACT
|
benign
| 879 |
Classify the chromosome 1 variant at position 3403006 affecting gene PRDM16 (PR/SET domain 16) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
ACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCCCACCTTGGGCACCTGAGGCTCAGGGAGCCAGGCTCTGAGGACCCGCCAGGGGTGCTGGGGTGGCCCAGGCCAAATAGCAGCATCTCTACCCTTAGGCTCAGGGAAGCTTCCAGTCAGCAAGGAGGTGCCACTTCTGGTAACCCCTGCACTGCCCAGACTGCAAAGCAGCCCACACTTTCCTTAGGACTCTAAAAGGCCTATGACCGTGGTGGTCTCTCTGACACAGGGAGGGGACAGGAAGTGACAGCCCTCTTCCATCTGCCCCCATCCCCCCGTCTCCGCGGCAATCCTTAGGTTCAGGCCTTTGAGTCAACGTTCAGACCAAGCTCATGAAGACTCTGCTCAATGCTGGGCACTGGGTCAGTCCTCGTGCACGTGCATACACACCCAAACACACATTCCCACAAGCACCCAAATGCACACACACAAATTGCATGCATACACACATCACATGCACACAAACACAAACATGCACGTTAGCATACACACATTCATATACAAGCATGTGTACACATATTCATGCCTGCACAACTACACACCCATTGGCGCACACACACACAAACCAACACACAATGTGCGTGTTCACACACATATTCACATGCACATGTGTGCACATCAAACACATATGCACACACAACATAGCCACCCATGCGCACGAACATATATGTATAATATGCACGTATGCATACATAACACAAATGCACACACATGCAGACAGAAACACGTGCATTCACACATGCAAAGTATGCACCCACATGAACACACAGATGCACACATGCCTCAACACAAAGGCATCCACAAACCACACATGTGCAAGTATGAAAACACACCAGTGCACACAAATATTCACGCATGTAGGTGCATGCAGAAACACATGCATCCTCACACACATGCACATGAGTACCCATGCAGGCCCACACAAACATGGGTGTAAGTGCATAGACATGCACACACAGTCACACAAAAATGCACAGACATGGATGCAGATATGCTGAGATATTCACACTTACGTGTGCATACACAGCTGCCTGCTCATGCCCAAGACGCCCCCGTGCACTCACACACTGGTGCACACACCATTGTTCAATTCATTTGGGAAAGAGCTCAGTGCCAGCGTTCTTTCCAGAGCCGGGGGGATGAGGCATCTTGTTGGGGGGGTCTCCCGTCTTAGGTGGAAGGCTGCTGCCCAGCTGCTACAGGCAGGGGAGGCAGGGACGGGCCCAGAGCCCCCCACCGGGATGACAGCTCCAGGCTGATTGTTTGGCTTGGCAAGGCAGTCAGGATGCTGCCTCGTAAACTTAATAATAGCTGCCCCCCTTTTAATTTGTTTGACCTTGACGACAATAATTTATTATATGCACTGGAGCTCTGTCATCGTTTTTCTCCTGATTCATAAACAAAGCACTTGGCCCGGCTTCCTCCTCCACTCCCGAGCGGGGCCTTCTCCAGCCCACAGTGGCTGCCTGAGGCACAGGCAGGGCCGGGTGTCGCCCGGGGCTCCCTCTGAGGCACAGATTGGGGGGTCCTTTGGTCCTGCCCAGGGCTGGGCCCTGGGGACTCCACATGCCTGTTTCCAGGGCAGGCTGGTGGGCCCCAAGTTGAAGGCTGGAAGGAAGCAGTGCAGGACTGGCCAGCCTGGGTGCAGGCCCTGAGGCACCGTGGTGAGGGGGCCAGGTCTCCAGAGTCCCCTGATAGCCCTGGGCTGGGTCTCCAGCTCACTCACCACCACCTCGTTCTCTCTCTTGCAGAGGAGCCCACGTTCCGCTGTGACGAGTGTGACGAACTCTTCCAGTCCAAGCTGGACCTGCGGCGCCATAAGAAGTACACGTGTGGCTCAGTGGGGGCTGCGCTCTACGAGGGCCTGGCTGAGGAGCTCAAGCCCGAGGGCCTTGGCGGTGGCAGCGGCCAAGCCCACGAGTGCAAGGACTGCGAGCGGATGTTCCCCAACAAGTACAGGTGCCACGCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCTCCCTTCCCCCGCCTCGCCCCCCAACAGGTGTAGACAAAGGGCCCCCTGGTGGGACACACCCTGGGGATATGTGCCCCTTCTGGGACACTGGCGCTGCGGGCAGAGCAGGTGCAGGATCCCGTGGCCAGAGCCGCAGGTGTCCCCTGGCTCCGACCGCAAATGTCCTGGCCCCAGAAAGCCACCTCCTAGGCTCATGGCCCTGCCTGCCAGGGCTGCGCTGCGGGGAGAAACTAGAAAGGAGAAAAACTCAGGCCAGAGCCCAGACCTGCAGCCGCTAAGCCCAAGGCTACTTCTGTAATAAGGTCCCAGACCGGGATGGGGGTGGCAGCACCCACCACCAAGGGATTCATGGTGGCCCCACCCTCCGGACACACGAGCAGCTCCTTCTCAGATGGTAGGCAAGAGCCAGAAGGGGTCACCCCTATCCCCAAGGCACCAGCCCTGCTCCCCACCAGGTGGCAGCGGACTGTCCCAGGAGGGGCTTCAGAGACATGAGCGGGCCCACGGTGGCCCTCCCCTGCCCTGAGACCAGGCAGGAGCCAGCATCTGGGGCCTGGGCGGCCTTGGGGACCTGTGGCCCCCGGGAAAGACAAGATTCCTGGTCTCTGTGGGGAGTGAAACCAGGACATTCAGTCCAGTGCTGTAAGGAGCTATGGAGACTTTTCCAACCTGGGCCCCTCCTCCTGCCTTTGAGGATTTCCTCCAGGACAGCCTCGCAAAGTCAGAGCAAAGCCCATCAGGCCACTAACCGGCTATGTGATTGCTGGGGATTACCGCCCATCCCCGCACCGCTCCCTGGGGACGGCAAACCCTCCACCCGGAACAGATGACTGAGAAAATAAACGTTTGGGCAAATCCCAACTGCGGCCCTTCCCAGTAAACGCCGCTCAAGAGGGTCCGTGTTTTCTTTACATAAACACATAAATCACAATTAACAACGGGGGAAAAGATACAGTCTCCTGATGCTCGGGAACCAGGCGTTTCTGATCTGAATGGATGGCTGGGCCCCGTAATTAACGAGCCGTGATATATCACTGCTTTGCTCATGAAGATTAACGGTCATCCCTGGGACAAGGGAAGCCGGGGGTCCCCCAAGAGCAGGGAATTAGAGCGACTCCTTCATCCAAGTGCAGCGGCCCCTCCGAGCAGCTGTGCTCGGGTCCCCTCCGTGTCACCTGGAGACCCCCGAGTGACTCCCGACCTGCGTCCTCGGTGTGTGCCCAGCACTCAGAGGGGCATCCTTGGGTTTGGGGGACTTGCCCCACTCCTGGGTTCATGCCAGTGTTGAACCCCTTTTTTCTTAGGCCCAAGCCTAGCTGCAAGGCCAGGACCAGCTTGAGAGGCACCCAGGGAGTGTGGGCCGGGGTCCGGCACTGCCTCCAGCCGCCCTGGGGGTGGTCTTGGGTGAGGGATGGAACCATCCAGGTGCCGGCTTCCCCATCTGCTAGGGGAAGGCCGCCTCTGCCCCTCACAGCCCGGCCACGGCAGAGAGGAGGTGGGCAGGGAGACACCAGCATGTGCTCTGATCCCTCGGCAGCGTGGTGGGGGCTCCGAAGGGGCACTGGGAACAAGCTGTATGGTTGGGGTCCCCTCCCGGGCAGAGGGCAGGTAGTCGGGCCCCGCAGTGAGCCTCGTCCTCTGCGCAGCCTGGAGCAGCACATGGTCATCCACACGGAGGAGCGCGAGTACAAATGCGACCAGTGTCCCAAGGCCTTCAACTGGAAGTCCAACCTCATCCGCCACCAGATGTCCCACGACAGCGGCAAACGCTTCGAATGTGAAAACTGCGTGAAGGTAACCTGCGGGGCGGCCCCGTCTCAGCCCCGGGGCAGCAGGAGGCTGCAGACGGGCGCCCGCCCCCGTGCTCCCTACACCCCCTGGTCCAAATGTAGATGGAGTGCGGCAGAGTGGGTAGGAGGCCCCTGCGGTGGCTCGGGCCCTTCCGTGTGACTAGGAAGGAA
|
ACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCCCACCTTGGGCACCTGAGGCTCAGGGAGCCAGGCTCTGAGGACCCGCCAGGGGTGCTGGGGTGGCCCAGGCCAAATAGCAGCATCTCTACCCTTAGGCTCAGGGAAGCTTCCAGTCAGCAAGGAGGTGCCACTTCTGGTAACCCCTGCACTGCCCAGACTGCAAAGCAGCCCACACTTTCCTTAGGACTCTAAAAGGCCTATGACCGTGGTGGTCTCTCTGACACAGGGAGGGGACAGGAAGTGACAGCCCTCTTCCATCTGCCCCCATCCCCCCGTCTCCGCGGCAATCCTTAGGTTCAGGCCTTTGAGTCAACGTTCAGACCAAGCTCATGAAGACTCTGCTCAATGCTGGGCACTGGGTCAGTCCTCGTGCACGTGCATACACACCCAAACACACATTCCCACAAGCACCCAAATGCACACACACAAATTGCATGCATACACACATCACATGCACACAAACACAAACATGCACGTTAGCATACACACATTCATATACAAGCATGTGTACACATATTCATGCCTGCACAACTACACACCCATTGGCGCACACACACACAAACCAACACACAATGTGCGTGTTCACACACATATTCACATGCACATGTGTGCACATCAAACACATATGCACACACAACATAGCCACCCATGCGCACGAACATATATGTATAATATGCACGTATGCATACATAACACAAATGCACACACATGCAGACAGAAACACGTGCATTCACACATGCAAAGTATGCACCCACATGAACACACAGATGCACACATGCCTCAACACAAAGGCATCCACAAACCACACATGTGCAAGTATGAAAACACACCAGTGCACACAAATATTCACGCATGTAGGTGCATGCAGAAACACATGCATCCTCACACACATGCACATGAGTACCCATGCAGGCCCACACAAACATGGGTGTAAGTGCATAGACATGCACACACAGTCACACAAAAATGCACAGACATGGATGCAGATATGCTGAGATATTCACACTTACGTGTGCATACACAGCTGCCTGCTCATGCCCAAGACGCCCCCGTGCACTCACACACTGGTGCACACACCATTGTTCAATTCATTTGGGAAAGAGCTCAGTGCCAGCGTTCTTTCCAGAGCCGGGGGGATGAGGCATCTTGTTGGGGGGGTCTCCCGTCTTAGGTGGAAGGCTGCTGCCCAGCTGCTACAGGCAGGGGAGGCAGGGACGGGCCCAGAGCCCCCCACCGGGATGACAGCTCCAGGCTGATTGTTTGGCTTGGCAAGGCAGTCAGGATGCTGCCTCGTAAACTTAATAATAGCTGCCCCCCTTTTAATTTGTTTGACCTTGACGACAATAATTTATTATATGCACTGGAGCTCTGTCATCGTTTTTCTCCTGATTCATAAACAAAGCACTTGGCCCGGCTTCCTCCTCCACTCCCGAGCGGGGCCTTCTCCAGCCCACAGTGGCTGCCTGAGGCACAGGCAGGGCCGGGTGTCGCCCGGGGCTCCCTCTGAGGCACAGATTGGGGGGTCCTTTGGTCCTGCCCAGGGCTGGGCCCTGGGGACTCCACATGCCTGTTTCCAGGGCAGGCTGGTGGGCCCCAAGTTGAAGGCTGGAAGGAAGCAGTGCAGGACTGGCCAGCCTGGGTGCAGGCCCTGAGGCACCGTGGTGAGGGGGCCAGGTCTCCAGAGTCCCCTGATAGCCCTGGGCTGGGTCTCCAGCTCACTCACCACCACCTCGTTCTCTCTCTTGCAGAGGAGCCCACGTTCCGCTGTGACGAGTGTGACGAACTCTTCCAGTCCAAGCTGGACCTGCGGCGCCATAAGAAGTACACGTGTGGCTCAGTGGGGGCTGCGCTCTACGAGGGCCTGGCTGAGGAGCTCAAGCCCGAGGGCCTTGGCGGTGGCAGCGGCCAAGCCCACGAGTGCAAGGACTGCGAGCGGATGTTCCCCAACAAGTACAGGTGCCACGCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCTCCCTTCCCCCGCCTCGCCCCCCAACAGGTGTAGACAAAGGGCCCCCTGGTGGGACACACCCTGGGGATATGTGCCCCTTCTGGGACACTGGCGCTGCGGGCAGAGCAGGTGCAGGATCCCGTGGCCAGAGCCGCAGGTGTCCCCTGGCTCCGACCGCAAATGTCCTGGCCCCAGAAAGCCACCTCCTAGGCTCATGGCCCTGCCTGCCAGGGCTGCGCTGCGGGGAGAAACTAGAAAGGAGAAAAACTCAGGCCAGAGCCCAGACCTGCAGCCGCTAAGCCCAAGGCTACTTCTGTAATAAGGTCCCAGACCGGGATGGGGGTGGCAGCACCCACCACCAAGGGATTCATGGTGGCCCCACCCTCCGGACACACGAGCAGCTCCTTCTCAGATGGTAGGCAAGAGCCAGAAGGGGTCACCCCTATCCCCAAGGCACCAGCCCTGCTCCCCACCAGGTGGCAGCGGACTGTCCCAGGAGGGGCTTCAGAGACATGAGCGGGCCCACGGTGGCCCTCCCCTGCCCTGAGACCAGGCAGGAGCCAGCATCTGGGGCCTGGGCGGCCTTGGGGACCTGTGGCCCCCGGGAAAGACAAGATTCCTGGTCTCTGTGGGGAGTGAAACCAGGACATTCAGTCCAGTGCTGTAAGGAGCTATGGAGACTTTTCCAACCTGGGCCCCTCCTCCTGCCTTTGAGGATTTCCTCCAGGACAGCCTCGCAAAGTCAGAGCAAAGCCCATCAGGCCACTAACCGGCTATGTGATTGCTGGGGATTACCGCCCATCCCCGCACCGCTCCCTGGGGACGGCAAACCCTCCACCCGGAACAGATGACTGAGAAAATAAACGTTTGGGCAAATCCCAACTGCGGCCCTTCCCAGTAAACGCCGCTCAAGAGGGTCCGTGTTTTCTTTACATAAACACATAAATCACAATTAACAACGGGGGAAAAGATACAGTCTCCTGATGCTCGGGAACCAGGCGTTTCTGATCTGAATGGATGGCTGGGCCCCGTAATTAACGAGCCGTGATATATCACTGCTTTGCTCATGAAGATTAACGGTCATCCCTGGGACAAGGGAAGCCGGGGGTCCCCCAAGAGCAGGGAATTAGAGCGACTCCTTCATCCAAGTGCAGCGGCCCCTCCGAGCAGCTGTGCTCGGGTCCCCTCCGTGTCACCTGGAGACCCCCGAGTGACTCCCGACCTGCGTCCTCGGTGTGTGCCCAGCACTCAGAGGGGCATCCTTGGGTTTGGGGGACTTGCCCCACTCCTGGGTTCATGCCAGTGTTGAACCCCTTTTTTCTTAGGCCCAAGCCTAGCTGCAAGGCCAGGACCAGCTTGAGAGGCACCCAGGGAGTGTGGGCCGGGGTCCGGCACTGCCTCCAGCCGCCCTGGGGGTGGTCTTGGGTGAGGGATGGAACCATCCAGGTGCCGGCTTCCCCATCTGCTAGGGGAAGGCCGCCTCTGCCCCTCACAGCCCGGCCACGGCAGAGAGGAGGTGGGCAGGGAGACACCAGCATGTGCTCTGATCCCTCGGCAGCGTGGTGGGGGCTCCGAAGGGGCACTGGGAACAAGCTGTATGGTTGGGGTCCCCTCCCGGGCAGAGGGCAGGTAGTCGGGCCCCGCAGTGAGCCTCGTCCTCTGCGCAGCCTGGAGCAGCACATGGTCATCCACACGGAGGAGCGCGAGTACAAATGCGACCAGTGTCCCAAGGCCTTCAACTGGAAGTCCAACCTCATCCGCCACCAGATGTCCCACGACAGCGGCAAACGCTTCGAATGTGAAAACTGCGTGAAGGTAACCTGCGGGGCGGCCCCGTCTCAGCCCCGGGGCAGCAGGAGGCTGCAGACGGGCGCCCGCCCCCGTGCTCCCTACACCCCCTGGTCCAAATGTAGATGGAGTGCGGCAGAGTGGGTAGGAGGCCCCTGCGGTGGCTCGGGCCCTTCCGTGTGACTAGGAAGGAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 891 |
Gene PRDM16 (PR/SET domain 16) variant at chromosome position 3411765 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Left_ventricular_noncompaction_8', 'Left_ventricular_noncompaction_cardiomyopathy']
|
TGTGTGGTGTGTGTAGTGTGGGTGTGTGTGTGGTGTGGGTGTGAGTGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGGTGTATGTGTGCATGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGTGGTGTTTGTGTGCATGTGTGTGGTTGTGTGCATGTGTGTGGTGTGGTTGTGGGTGTGGTGTGTGTGTATGTGCATGTGTGTGGTGTGGGTGTGTGTGCGTGTGGGGGGTGTGGTTGTGTGTTTGCATGGGGGGGTGTGGGGGGTGTGCATGTGTGTGTGCTGTGTGTGCATGTGTGTGATTGTGTGTGTACGAATGTGGTGTGTGGTTGTGTATGTGCATGTGTATGAATGTGTGTGGTTGTGTGTGTGCGTGTGTGTGGTGTGTGTGCATGTGTATGAATGTGGTGTGTGGTTGTGTGTGCTGTGTGTGTGCATGTGTAGATGTGTGTGTGTTCCTCCCTTTTTTCTTAGAAAAACAAGAGGCAAAAGACAAGCTGGTGATTCGCTGACAACCGTTCACAGGCCTTTAGGAAAATGGCCGGAACCCCCAGGCCGCTGGGTCCTGGAGTCTAGCTGGGCCGGCACTGCCCTCTCCTGTTGAGAGAAGATGCTGGCACTCGCCAGCCAGAGCCGGGCACTGCCGCTTCCATCCCAGTCTGAGGAGGTTCCCAGTAGTAGGATTTTCACTTTTCTCAAGCAGGGAATAGTCCCTCTGCATAGGGCTCCTGCCCGGGGTGACCTCCTATCCATGTCCACCTCCAGCCATCTCCAAAGGGTAGTTGAGTACTGCCAGGAGCCCCAAAGTCCGGGATCCCCGAGTTGGGGCCTCCTGAGAACCTCAGGAACTGTCTGTGTCAACCCAGAGGCTGCCTTCTCCGGGGTGCAGGCAGCAGGATCTGGTGCGGAGAGGGGAGGTGGGAGGACACTAGGAACACTGTGAACTTCTAGAGAGCAGGAGGCACAGTCTGCGTGGTCAGCGTCCTGCCCCCACCCCTGCTAGAACAGCTGCAAAAGTGAAGACGAAGGCAGGGCGGGCCCTGAGCCAGCTTGCCCTGAATCCACTGATGGAGTGGCAGACACCATCACATGCATTCGCTTTCCCCGTGCCCCGCCCTGGAGAGCAGGTTCACCTTCCCCAGGGACTTCTGAAAATCTTGGCTCCTAAACTAGCAACACCGTGGGGTAGGAGGGTGGAAACAGCAGTGGCAAGCCCATTCTCCAGCAAAGAAGGTGGCGGCACAGCAGGAACTGTACCAACCGGCCCCCCGATCTGTGCTGGTCACTGGAGGCCAGTCTTGGGTGGGGCGCATGCACACACACATATGTTTCCACATGCTCATGTGTGCACACGTGTGCACACTCAGACACGCACGCTTGCAGAATACACACACGCCTGCCCAGACACGGACACTTACGCACACAGACACACATGCACCTGCCTGTGTATTTGTGTGTACGCACACACGCATGTATGCACAGTACACACATATACACCCATGCCCACGCACATGCACCCAGACAGACTGCTTCCAGCCCCAGCCTCGCCCCTCCAGCGGCTGGCTTTCCCAGTAATTTCATGTGGCGTTTTCAGCAGGGTTTCCCGGTCATTTCATGCGGGTTTGTCTTGGCTTCTGCTGATGTTTTAGGTGAGGTCTGCCACAAGTCCTACACGCAGTTCTCCAACCTGTGCCGGCACAAGCGGATGCACGCCGACTGCCGCACGCAGATCAAGTGCAAGGACTGTGGCCAGATGTTCAGCACTACCTCCTCCCTCAACAAGCACCGGCGCTTCTGCGAGGGCAAGAACCATTACACGCCGGGCGGCATCTTTGCCCCGGGCCTGCCCTTGACCCCCAGCCCCATGATGGACAAGGCAAAACCCTCCCCCAGCCTCAATCACGCCAGCCTGGGCTTCAACGAGTACTTTCCCTCCAGGCCGCACCCGGGGAGCCTGCCCTTCTCCACGGCGCCTCCCACGTTCCCCGCACTCACCCCCGGCTTCCCGGGCATCTTCCCTCCATCCTTGTACCCCCGGCCGCCTCTGCTACCTCCCACATCGCTGCTCAAGAGCCCCCTGAACCACACCCAGGACGCCAAGCTCCCCAGTCCCCTGGGGAACCCAGCCCTGCCCCTGGTCTCCGCCGTCAGCAACAGCAGCCAGGGCACGACGGCAGCTGCGGGGCCCGAGGAGAAGTTCGAGAGCCGCCTGGAGGACTCCTGTGTGGAGAAGCTGAAGACCAGGAGCAGCGACATGTCGGACGGCAGTGACTTTGAGGACGTCAACACCACCACGGGGACCGACCTGGACACGACCACGGGGACGGGCTCGGACCTGGACAGCGACGTGGACAGCGACCCTGACAAGGACAAGGGCAAGGGCAAGTCCGCCGAGGGCCAGCCCAAGTTTGGGGGCGGCTTGGCGCCCCCGGGGGCCCCGAACAGCGTGGCCGAGGTGCCTGTCTTCTATTCCCAGCACTCATTCTTCCCGCCACCCGACGAGCAGCTGCTGACTGCAACGGGCGCCGCCGGGGACTCCATCAAGGCCATCGCATCCATTGCCGAGAAGTACTTTGGCCCCGGCTTCATGGGGATGCAGGAGAAGAAGCTGGGCTCGCTCCCCTACCACTCGGCGTTCCCCTTCCAGTTCCTGCCCAACTTCCCCCACTCCCTTTACCCCTTCACGGACCGAGCCCTCGCCCACAACTTGCTGGTCAAGGCCGAGCCAAAGTCACCCCGGGACGCCCTCAAGGTGGGCGGCCCCAGTGCCGAGTGCCCCTTTGATCTCACCACCAAGCCCAAAGACGTGAAGCCCATCCTGCCCATGCCCAAGGGCCCCTCGGCCCCCGCATCCGGCGAGGAGCAGCCGCTGGACCTGAGCATCGGCAGCCGGGCCCGTGCCAGCCAAAACGGCGGCGGGCGGGAGCCCCGCAAGAACCACGTCTATGGGGAACGCAAGCTGGGCGCCGGCGAGGGGCTGCCCCAGGTGTGCCCGGCGCGGATGCCCCAGCAGCCCCCGCTCCACTACGCCAAGCCCTCGCCCTTCTTCATGGACCCCATCTACAGGTATTCAGCACCCCAGCCTCACTGGCTCTCCCTGGGGCGGGGCCGCGGCGGTGCTGGGCGGGCTCAGTGCATGGTGGTGTCTCTTTCAAGCTCCTCCAAGGTCGTCCCCCGGCCTTTGCTGACTTCAGGAAGATGCCCCTGTTCTTGGGGGGGTCTGCACCCCTCAGGAGGGATGCCTGGCTTGGCTGCTCCTAAGCTAGGTGCCTGGCCCGGGCCGTGTTTGGGAGGCCAGGACGGGTGCTCCTGGACACGTGCAGTTTGCTTGCACCGATGACCACTCAGACATCACACTGCTGGCCTCGAGCGCCTCCTATCCCCAGTAACCCCACCCCCCACCCCAACCCACACCCTTCCCCACCCCTCTCTCCAGCTGTCGTCTCTGGTCTAGCTCTCCCCAGCCTCTACCTGCAGAAGTCAGAGGGGCCTGGGCTGAGTGCTTCCTGCCCCTCCTGGTGCGCTCCTGCCCCTGGAGCCACAGCGGCAGGGGGAATGGGGAGGGGGTGTCTTTCTGGGGGCCCCGGGGGAATCAGAGAAGGAGCCAGTGGTCCTTGGAGGGGAGGAGGAGGCGAGGGATGAAGCAAGCATTGGAGGGTTTTCTAGGCACCAGTGTCCTGTGTCTCTGATGCCTCTCTTGGGGAAAGGCGAGTTTAATGCCACTCCCTAATTTCTGGACAGGTTTGCCCCTCCCTAGAATGCAGGTGGGTTGGAAGAGCAGGGCTAGGCTTGGGGAGGGGGTCCTACCCCCACCAGCACCTGTCCCTGTGCTCCCCGCTTCGCCATGCAAGGAGACAGGCAGGAGACCCTGAGCAAGTCCTGTCCTAATAAAGCAAAAGCGGCCAGTCATAGACATGCTGGGGGTGCTGTGTCTTGCAACGGGGTGGCAGGTTTACCAAAGCGCTCTCAGTGATGGGAAAGAGGCTCCCAAATCTAACCCTCACTATGGGAACCCAGGCAGACAGAGAAGAGCAGGCTGCCTTCAAGAGCCACCAGGCCAAAGGAGGGTCAGTGGATA
|
TGTGTGGTGTGTGTAGTGTGGGTGTGTGTGTGGTGTGGGTGTGAGTGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGGTGTATGTGTGCATGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGTGGTGTTTGTGTGCATGTGTGTGGTTGTGTGCATGTGTGTGGTGTGGTTGTGGGTGTGGTGTGTGTGTATGTGCATGTGTGTGGTGTGGGTGTGTGTGCGTGTGGGGGGTGTGGTTGTGTGTTTGCATGGGGGGGTGTGGGGGGTGTGCATGTGTGTGTGCTGTGTGTGCATGTGTGTGATTGTGTGTGTACGAATGTGGTGTGTGGTTGTGTATGTGCATGTGTATGAATGTGTGTGGTTGTGTGTGTGCGTGTGTGTGGTGTGTGTGCATGTGTATGAATGTGGTGTGTGGTTGTGTGTGCTGTGTGTGTGCATGTGTAGATGTGTGTGTGTTCCTCCCTTTTTTCTTAGAAAAACAAGAGGCAAAAGACAAGCTGGTGATTCGCTGACAACCGTTCACAGGCCTTTAGGAAAATGGCCGGAACCCCCAGGCCGCTGGGTCCTGGAGTCTAGCTGGGCCGGCACTGCCCTCTCCTGTTGAGAGAAGATGCTGGCACTCGCCAGCCAGAGCCGGGCACTGCCGCTTCCATCCCAGTCTGAGGAGGTTCCCAGTAGTAGGATTTTCACTTTTCTCAAGCAGGGAATAGTCCCTCTGCATAGGGCTCCTGCCCGGGGTGACCTCCTATCCATGTCCACCTCCAGCCATCTCCAAAGGGTAGTTGAGTACTGCCAGGAGCCCCAAAGTCCGGGATCCCCGAGTTGGGGCCTCCTGAGAACCTCAGGAACTGTCTGTGTCAACCCAGAGGCTGCCTTCTCCGGGGTGCAGGCAGCAGGATCTGGTGCGGAGAGGGGAGGTGGGAGGACACTAGGAACACTGTGAACTTCTAGAGAGCAGGAGGCACAGTCTGCGTGGTCAGCGTCCTGCCCCCACCCCTGCTAGAACAGCTGCAAAAGTGAAGACGAAGGCAGGGCGGGCCCTGAGCCAGCTTGCCCTGAATCCACTGATGGAGTGGCAGACACCATCACATGCATTCGCTTTCCCCGTGCCCCGCCCTGGAGAGCAGGTTCACCTTCCCCAGGGACTTCTGAAAATCTTGGCTCCTAAACTAGCAACACCGTGGGGTAGGAGGGTGGAAACAGCAGTGGCAAGCCCATTCTCCAGCAAAGAAGGTGGCGGCACAGCAGGAACTGTACCAACCGGCCCCCCGATCTGTGCTGGTCACTGGAGGCCAGTCTTGGGTGGGGCGCATGCACACACACATATGTTTCCACATGCTCATGTGTGCACACGTGTGCACACTCAGACACGCACGCTTGCAGAATACACACACGCCTGCCCAGACACGGACACTTACGCACACAGACACACATGCACCTGCCTGTGTATTTGTGTGTACGCACACACGCATGTATGCACAGTACACACATATACACCCATGCCCACGCACATGCACCCAGACAGACTGCTTCCAGCCCCAGCCTCGCCCCTCCAGCGGCTGGCTTTCCCAGTAATTTCATGTGGCGTTTTCAGCAGGGTTTCCCGGTCATTTCATGCGGGTTTGTCTTGGCTTCTGCTGATGTTTTAGGTGAGGTCTGCCACAAGTCCTACACGCAGTTCTCCAACCTGTGCCGGCACAAGCGGATGCACGCCGACTGCCGCACGCAGATCAAGTGCAAGGACTGTGGCCAGATGTTCAGCACTACCTCCTCCCTCAACAAGCACCGGCGCTTCTGCGAGGGCAAGAACCATTACACGCCGGGCGGCATCTTTGCCCCGGGCCTGCCCTTGACCCCCAGCCCCATGATGGACAAGGCAAAACCCTCCCCCAGCCTCAATCACGCCAGCCTGGGCTTCAACGAGTACTTTCCCTCCAGGCCGCACCCGGGGAGCCTGCCCTTCTCCACGGCGCCTCCCACGTTCCCCGCACTCACCCCCGGCTTCCCGGGCATCTTCCCTCCATCCTTGTACCCCCCGGCCGCCTCTGCTACCTCCCACATCGCTGCTCAAGAGCCCCCTGAACCACACCCAGGACGCCAAGCTCCCCAGTCCCCTGGGGAACCCAGCCCTGCCCCTGGTCTCCGCCGTCAGCAACAGCAGCCAGGGCACGACGGCAGCTGCGGGGCCCGAGGAGAAGTTCGAGAGCCGCCTGGAGGACTCCTGTGTGGAGAAGCTGAAGACCAGGAGCAGCGACATGTCGGACGGCAGTGACTTTGAGGACGTCAACACCACCACGGGGACCGACCTGGACACGACCACGGGGACGGGCTCGGACCTGGACAGCGACGTGGACAGCGACCCTGACAAGGACAAGGGCAAGGGCAAGTCCGCCGAGGGCCAGCCCAAGTTTGGGGGCGGCTTGGCGCCCCCGGGGGCCCCGAACAGCGTGGCCGAGGTGCCTGTCTTCTATTCCCAGCACTCATTCTTCCCGCCACCCGACGAGCAGCTGCTGACTGCAACGGGCGCCGCCGGGGACTCCATCAAGGCCATCGCATCCATTGCCGAGAAGTACTTTGGCCCCGGCTTCATGGGGATGCAGGAGAAGAAGCTGGGCTCGCTCCCCTACCACTCGGCGTTCCCCTTCCAGTTCCTGCCCAACTTCCCCCACTCCCTTTACCCCTTCACGGACCGAGCCCTCGCCCACAACTTGCTGGTCAAGGCCGAGCCAAAGTCACCCCGGGACGCCCTCAAGGTGGGCGGCCCCAGTGCCGAGTGCCCCTTTGATCTCACCACCAAGCCCAAAGACGTGAAGCCCATCCTGCCCATGCCCAAGGGCCCCTCGGCCCCCGCATCCGGCGAGGAGCAGCCGCTGGACCTGAGCATCGGCAGCCGGGCCCGTGCCAGCCAAAACGGCGGCGGGCGGGAGCCCCGCAAGAACCACGTCTATGGGGAACGCAAGCTGGGCGCCGGCGAGGGGCTGCCCCAGGTGTGCCCGGCGCGGATGCCCCAGCAGCCCCCGCTCCACTACGCCAAGCCCTCGCCCTTCTTCATGGACCCCATCTACAGGTATTCAGCACCCCAGCCTCACTGGCTCTCCCTGGGGCGGGGCCGCGGCGGTGCTGGGCGGGCTCAGTGCATGGTGGTGTCTCTTTCAAGCTCCTCCAAGGTCGTCCCCCGGCCTTTGCTGACTTCAGGAAGATGCCCCTGTTCTTGGGGGGGTCTGCACCCCTCAGGAGGGATGCCTGGCTTGGCTGCTCCTAAGCTAGGTGCCTGGCCCGGGCCGTGTTTGGGAGGCCAGGACGGGTGCTCCTGGACACGTGCAGTTTGCTTGCACCGATGACCACTCAGACATCACACTGCTGGCCTCGAGCGCCTCCTATCCCCAGTAACCCCACCCCCCACCCCAACCCACACCCTTCCCCACCCCTCTCTCCAGCTGTCGTCTCTGGTCTAGCTCTCCCCAGCCTCTACCTGCAGAAGTCAGAGGGGCCTGGGCTGAGTGCTTCCTGCCCCTCCTGGTGCGCTCCTGCCCCTGGAGCCACAGCGGCAGGGGGAATGGGGAGGGGGTGTCTTTCTGGGGGCCCCGGGGGAATCAGAGAAGGAGCCAGTGGTCCTTGGAGGGGAGGAGGAGGCGAGGGATGAAGCAAGCATTGGAGGGTTTTCTAGGCACCAGTGTCCTGTGTCTCTGATGCCTCTCTTGGGGAAAGGCGAGTTTAATGCCACTCCCTAATTTCTGGACAGGTTTGCCCCTCCCTAGAATGCAGGTGGGTTGGAAGAGCAGGGCTAGGCTTGGGGAGGGGGTCCTACCCCCACCAGCACCTGTCCCTGTGCTCCCCGCTTCGCCATGCAAGGAGACAGGCAGGAGACCCTGAGCAAGTCCTGTCCTAATAAAGCAAAAGCGGCCAGTCATAGACATGCTGGGGGTGCTGTGTCTTGCAACGGGGTGGCAGGTTTACCAAAGCGCTCTCAGTGATGGGAAAGAGGCTCCCAAATCTAACCCTCACTATGGGAACCCAGGCAGACAGAGAAGAGCAGGCTGCCTTCAAGAGCCACCAGGCCAAAGGAGGGTCAGTGGAT
|
pathogenic
| 924 |
Variant at chromosome 1, position 3430950, gene PRDM16 (PR/SET domain 16): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
GCACTTGGAGAAAATCACGCAGGGGAGAAGGCCAAGGGAAAATGGAGACAGAGGTCAGGGTGATGCGCCTCCCAGCCAAGGGTCACCTAAGAGGGACAAAGGTCACCAAGGATGGCCAAGGAGGGCCAAGGGTCACATAGGAGGGCCGAAGAGTGCCAAGGTTTGCCAAGGATGGCCAAAGAGGGCCGGCAGCAGCGGGAGCTGGAGAGAGACCAGGGACAGATTCTCCCCCAGAGTCTTGGAAGGAACCCGGCCTGCCCTCGCCTGGATCTTGGACTTCTGGCCTCAGAGCTGTGAAAGCGTCCACGGCTGTTGCTTCAGGCCCCCATTCTGTGGGGCTTGGTTTGGGCAGCTCTGGGAAACTGACTGTCCTCCCTGTTGGAGCCAAACCAGCCACTGGGCCCTATTCTGTGTCCGTGCCGGATGCTCCGCTCCCCAACACTAAAAAGCAAATACTCTGTGCATGGGGGGTGTGCAGCAGACATAAAGAGGGCAAAGTCCCTGCCCCCAGCTGGTGGGAAGCCCATGCAAACCCACGTGGGGCCACCAGATGAGATCTCACAGCACATGCCCATGTGATGAGCCTGGGCTCTCACCCTGCGCCATCTCATCCCGTCCTCAGAGTGGACAGGGAGGGGTATGTCCTCGTGTCATCGAGAGGGCACAGGCCCCAAAGACAGAACCCCACCCGAGGGCACCTCACCAACAACCAGGGTGAGAACCAGGACCCGGATCCCAGCAGCTCCGTGGCTGAGGAGATGGGTGTGTGTACAGGACGCTCTTGGCCCCCAACACAGGCGACCAGGACCGAGGAACTCTCCTCAAGCCCTGAAACCTGGTGAGGTTCTGTCCGTCCTGGAAGGCAGAAAGACAAGAGATAGACACGTGGCCCATCTGTGGAGAGCCAGGAAATTGTGGCCTCCCCAAGCCCAGTTCCCGTGCACACAGGCGAGTCCGAGACACGGAGGTCGGTCGCCGTGAGACGCTGTCACTTTCTTGCTTGGATGCCAAGAGCAGGACCCCTGCATCTCACCCACACCGTGGATACCTCCCAGGGCAGCGGGAGGCAGTGCCCCCGGGCGGAGTGAGGACAAGGAAGAGTGGCCCTGGGGCTCTGGGCATGGGCAGTCCAGAAACTGCGTGCCCTGCCCTTTGCTTGGGCCCCTCTACCAGTATGTCCAGCATGTGCCCGGGGGCCCTCAGCTCCCCTGGGGCCCAGCCCACCCAAGACACAGCTCTTGGTCGTGAACATGAAGATGAGCCAAACTCTAGTGGCTCTTCCTGAAAGAAATGAGAATGCCCAGCCACACCCATGCACGCTTTGTTCTTTTTTATTTAATACTGAGGAACCGGAGTGGAGGGGTCCTGCCGGGCTGCAGTGACCCTGAGGGAAGTCAGGAGAGCCCTGGGCTGCAGAAGAGTCCCCCCACAGGCTCCGAAGCAAGCTTGTCCTGGTGCATTCAGACTGCTCACAGCAGGCTTTGGGCCCTCACTCTCCAGATCCCAGAGAGCCCTCCAGGGCTCCCGGCTCTCGGGCCAGTGCCCACGTCCTCGAGTTGTCAGCCTGAATTCCTTCCCCCTGAAGTCTGCCCTGAGGGTGCCCCTCGTGCACTGCCCAACCCCCGTGCCAGTGCAGGTCCAGCTTCCCCACAGGACTGCCCACTGCTTCCACCCCAACACCGCCCCGGCCCTGGTGTCCTCCCGGCCATAGCAGCTTGCTGCTGGGCCTTGCCCTGCCCCCACCGCCCCGAGCGCTTGCCCTCCTCTCCCGGGATCGCCCCCAGGCCTCCGTGCCTCTCACTCTGCAGAGTCAGTGGCTGGGCCCAGGGACCCGCGGGAGCTCCCTCAGGAAGGGGGCTGAGTGTTGTCGGGGGAGGCAGTGGGGGCAGAGCGGAGTCACCAGCCTTTGGGGGTCCATGGGAAGGACAGAGACACCCAAACTCAGTCAATCTCCTCCTGCATCATTTCAGGGCGGACATGCAGATCGTGGACGGCAGTGCCCAGTGTCCAGGCCTAGCCAGTGAGAAGCAGGAGGACGTGGAGGAGGAGGACGACGATGACCTGGAGGAGGACGATGAGGACAGCCTGGCCGGGAAGTCGCAGGATGACACCGTGTCCCCCGCACCCGAGCCCCAGGCCGCCTACGAGGATGAGGAGGATGAGGAGCCAGCCGCCTCCCTGGCCGTGGGCTTTGACCACACCCGAAGGTGGGGGCAGCCGTGTGCTCCAGGATGGGGCAGGGAGGGAACGTGGGCGTCCATCACGAGGGGGACCTCCCTCTTCAGCCACTCGTGAGCCCATCCCTGGCTCAGCCCCTACTCCAGCACAGCCACCTCAGGGCCTCCACACACAGGCCAGGGCAAGGCTGGGCCAGGGGCAACGGGGTCAGGGGCCCTTAACCCCCCCACCCACCCCCAGGGGCCCTGGAGGCTGGAAGCAGAGTGTGGAGGGGAAGGCATTTCCCTGCACTGAGCAGACATGGAGGCCCCCGGCCCTGCAGCAGAGCTGCCTGTCAGCCTGGGACAGCGCGTGCAGCCACTAGAGGGCCGTGGGCACACGGGGGCCAAGCACCCACCATTCTGTGCCGGCCAGGGCCACTTCCCCATGTCCTCAGTGTTCGCCACCAATATCGGGCCTGGGCGACACTGCCAGCATTCCCAGATGCCCTTGGGGAGGCCCTTCGGAGGTGGCACTTCCTCTCCAGCCTGGATGCTGCCCCTGAGTCCTGGGAGAGGGAGCCCCGGGCCTCTCTGAGCTGCCTGGGGTCTTAGAGAATTGAAGCCTTCTTCTCCACCCTCCACTGGCAAGACCTGAGCCCCCTGCCTGCTGCCTGATGCGTGTGCACGCACTCACCCCCTCCCTGACCTCTGTCCGTCACTCTCCTGCATCCGTGTGCCTTCCCGTCCAGGCGTCTGTGTGTCCGTGTGTCTGTCTCCCTGTGCATGTGGCTGGCAGAGATGCAGCGGCGTGCATGCAGGCCCGGAGCTGGGCTTGCAGCATCAGAGAGGCGGCCAAGGCCAGGCTGCTGACAGCAGGCCTTCCCTCTCCCCGGTCATTGGTGCAGGTGTGCTGAGGACCACGAAGGCGGTCTGTTAGCTTTGGAGCCGATGCCGACTTTTGGGAAGGGGCTGGACCTCCGCAGAGCAGCTGAGGAAGCATTTGAAGTTAAAGATGTGCTTAATTCCACCTTAGATTCTGAGGCTTTAAAACATACACTGTGCAGGCAGGCTAAGAACCAGGTAGGTACCCGCCAGAGCCCCTCCCCCACCCCACCTGGCCTCCTCAGCCAGAGGACAGCCAGCACTCCTCTCCCGCCGTGGCCCTCCTAGGCCTGAGGAAGCTCTGGTCACGCAAACGCCCCCACGCTGCATCCTCCAGAGAGGCCCCAGCGACCACCGCCCTCCCGCAAGCTGGGGCGCAGCAGGGAGGGGCTGAGAGCCGATGACCCTGGCAGGACCCTCACGAGGGAGCTCACTCATGGACACGGGCAGCTCACCTTCCTGTGGTCCTCAGTGGGAAAGGTCTGTGAGCAGGTTTCTGGCCCGCCCAGCCGCCTTCGTCTCCCTCCCTCTCTGATCTGGGCCCCAGTGGCCTGCAGCCCGGGCTTTTCCCGGGGGAAGAGCTGTCCAGCCGGGCAGTCTCTGCTTCCCAGCTGGAGCAATGAGGTCAGCGAGGGTGCCAGGGTTTTGGCCCCAGGCGCTTCTCGGCTTCTCTCCTCAGGGTAGGTGGCCCCAGGGCCCTGCTCCCGCATTTCTCTCCAGTCTGTAGGGACTCAGGGTCTCATTCAGCACTCTACAGCCCTCCCAGAGGGAACAGGCCCGCCCCAGGTCTCAGCAAAAGCCGTCTGCGTGTCTGTCTTTGTCTTTTTACTAATTCTGTCTGGAGTGTTAACTCGGGTAGGACAGTGCTGGGCTTCCCCACCTTCCCTGCCCTTAACCCACACACGATGCTCCCCAGGTCCCATCCCCACCTGCCCTGTGCTGGGGGCAGAAGGATGTCCCATGAACTAACGCCTGGAAACACATCTGTACTTCCTAAGAATCCCATTGGCCCAGAAACGCTGCACATCCCTGTCCCAGAGGCAGCTCTTTGGTGT
|
GCACTTGGAGAAAATCACGCAGGGGAGAAGGCCAAGGGAAAATGGAGACAGAGGTCAGGGTGATGCGCCTCCCAGCCAAGGGTCACCTAAGAGGGACAAAGGTCACCAAGGATGGCCAAGGAGGGCCAAGGGTCACATAGGAGGGCCGAAGAGTGCCAAGGTTTGCCAAGGATGGCCAAAGAGGGCCGGCAGCAGCGGGAGCTGGAGAGAGACCAGGGACAGATTCTCCCCCAGAGTCTTGGAAGGAACCCGGCCTGCCCTCGCCTGGATCTTGGACTTCTGGCCTCAGAGCTGTGAAAGCGTCCACGGCTGTTGCTTCAGGCCCCCATTCTGTGGGGCTTGGTTTGGGCAGCTCTGGGAAACTGACTGTCCTCCCTGTTGGAGCCAAACCAGCCACTGGGCCCTATTCTGTGTCCGTGCCGGATGCTCCGCTCCCCAACACTAAAAAGCAAATACTCTGTGCATGGGGGGTGTGCAGCAGACATAAAGAGGGCAAAGTCCCTGCCCCCAGCTGGTGGGAAGCCCATGCAAACCCACGTGGGGCCACCAGATGAGATCTCACAGCACATGCCCATGTGATGAGCCTGGGCTCTCACCCTGCGCCATCTCATCCCGTCCTCAGAGTGGACAGGGAGGGGTATGTCCTCGTGTCATCGAGAGGGCACAGGCCCCAAAGACAGAACCCCACCCGAGGGCACCTCACCAACAACCAGGGTGAGAACCAGGACCCGGATCCCAGCAGCTCCGTGGCTGAGGAGATGGGTGTGTGTACAGGACGCTCTTGGCCCCCAACACAGGCGACCAGGACCGAGGAACTCTCCTCAAGCCCTGAAACCTGGTGAGGTTCTGTCCGTCCTGGAAGGCAGAAAGACAAGAGATAGACACGTGGCCCATCTGTGGAGAGCCAGGAAATTGTGGCCTCCCCAAGCCCAGTTCCCGTGCACACAGGCGAGTCCGAGACACGGAGGTCGGTCGCCGTGAGACGCTGTCACTTTCTTGCTTGGATGCCAAGAGCAGGACCCCTGCATCTCACCCACACCGTGGATACCTCCCAGGGCAGCGGGAGGCAGTGCCCCCGGGCGGAGTGAGGACAAGGAAGAGTGGCCCTGGGGCTCTGGGCATGGGCAGTCCAGAAACTGCGTGCCCTGCCCTTTGCTTGGGCCCCTCTACCAGTATGTCCAGCATGTGCCCGGGGGCCCTCAGCTCCCCTGGGGCCCAGCCCACCCAAGACACAGCTCTTGGTCGTGAACATGAAGATGAGCCAAACTCTAGTGGCTCTTCCTGAAAGAAATGAGAATGCCCAGCCACACCCATGCACGCTTTGTTCTTTTTTATTTAATACTGAGGAACCGGAGTGGAGGGGTCCTGCCGGGCTGCAGTGACCCTGAGGGAAGTCAGGAGAGCCCTGGGCTGCAGAAGAGTCCCCCCACAGGCTCCGAAGCAAGCTTGTCCTGGTGCATTCAGACTGCTCACAGCAGGCTTTGGGCCCTCACTCTCCAGATCCCAGAGAGCCCTCCAGGGCTCCCGGCTCTCGGGCCAGTGCCCACGTCCTCGAGTTGTCAGCCTGAATTCCTTCCCCCTGAAGTCTGCCCTGAGGGTGCCCCTCGTGCACTGCCCAACCCCCGTGCCAGTGCAGGTCCAGCTTCCCCACAGGACTGCCCACTGCTTCCACCCCAACACCGCCCCGGCCCTGGTGTCCTCCCGGCCATAGCAGCTTGCTGCTGGGCCTTGCCCTGCCCCCACCGCCCCGAGCGCTTGCCCTCCTCTCCCGGGATCGCCCCCAGGCCTCCGTGCCTCTCACTCTGCAGAGTCAGTGGCTGGGCCCAGGGACCCGCGGGAGCTCCCTCAGGAAGGGGGCTGAGTGTTGTCGGGGGAGGCAGTGGGGGCAGAGCGGAGTCACCAGCCTTTGGGGGTCCATGGGAAGGACAGAGACACCCAAACTCAGTCAATCTCCTCCTGCATCATTTCAGGGCGGACATGCAGATCGTGGACGGCAGTGCCCAGTGTCCAGGCCTAGCCAGTGAGAAGCAGGAGGACGTGGAGGAGGAGGACGACGACGATGACCTGGAGGAGGACGATGAGGACAGCCTGGCCGGGAAGTCGCAGGATGACACCGTGTCCCCCGCACCCGAGCCCCAGGCCGCCTACGAGGATGAGGAGGATGAGGAGCCAGCCGCCTCCCTGGCCGTGGGCTTTGACCACACCCGAAGGTGGGGGCAGCCGTGTGCTCCAGGATGGGGCAGGGAGGGAACGTGGGCGTCCATCACGAGGGGGACCTCCCTCTTCAGCCACTCGTGAGCCCATCCCTGGCTCAGCCCCTACTCCAGCACAGCCACCTCAGGGCCTCCACACACAGGCCAGGGCAAGGCTGGGCCAGGGGCAACGGGGTCAGGGGCCCTTAACCCCCCCACCCACCCCCAGGGGCCCTGGAGGCTGGAAGCAGAGTGTGGAGGGGAAGGCATTTCCCTGCACTGAGCAGACATGGAGGCCCCCGGCCCTGCAGCAGAGCTGCCTGTCAGCCTGGGACAGCGCGTGCAGCCACTAGAGGGCCGTGGGCACACGGGGGCCAAGCACCCACCATTCTGTGCCGGCCAGGGCCACTTCCCCATGTCCTCAGTGTTCGCCACCAATATCGGGCCTGGGCGACACTGCCAGCATTCCCAGATGCCCTTGGGGAGGCCCTTCGGAGGTGGCACTTCCTCTCCAGCCTGGATGCTGCCCCTGAGTCCTGGGAGAGGGAGCCCCGGGCCTCTCTGAGCTGCCTGGGGTCTTAGAGAATTGAAGCCTTCTTCTCCACCCTCCACTGGCAAGACCTGAGCCCCCTGCCTGCTGCCTGATGCGTGTGCACGCACTCACCCCCTCCCTGACCTCTGTCCGTCACTCTCCTGCATCCGTGTGCCTTCCCGTCCAGGCGTCTGTGTGTCCGTGTGTCTGTCTCCCTGTGCATGTGGCTGGCAGAGATGCAGCGGCGTGCATGCAGGCCCGGAGCTGGGCTTGCAGCATCAGAGAGGCGGCCAAGGCCAGGCTGCTGACAGCAGGCCTTCCCTCTCCCCGGTCATTGGTGCAGGTGTGCTGAGGACCACGAAGGCGGTCTGTTAGCTTTGGAGCCGATGCCGACTTTTGGGAAGGGGCTGGACCTCCGCAGAGCAGCTGAGGAAGCATTTGAAGTTAAAGATGTGCTTAATTCCACCTTAGATTCTGAGGCTTTAAAACATACACTGTGCAGGCAGGCTAAGAACCAGGTAGGTACCCGCCAGAGCCCCTCCCCCACCCCACCTGGCCTCCTCAGCCAGAGGACAGCCAGCACTCCTCTCCCGCCGTGGCCCTCCTAGGCCTGAGGAAGCTCTGGTCACGCAAACGCCCCCACGCTGCATCCTCCAGAGAGGCCCCAGCGACCACCGCCCTCCCGCAAGCTGGGGCGCAGCAGGGAGGGGCTGAGAGCCGATGACCCTGGCAGGACCCTCACGAGGGAGCTCACTCATGGACACGGGCAGCTCACCTTCCTGTGGTCCTCAGTGGGAAAGGTCTGTGAGCAGGTTTCTGGCCCGCCCAGCCGCCTTCGTCTCCCTCCCTCTCTGATCTGGGCCCCAGTGGCCTGCAGCCCGGGCTTTTCCCGGGGGAAGAGCTGTCCAGCCGGGCAGTCTCTGCTTCCCAGCTGGAGCAATGAGGTCAGCGAGGGTGCCAGGGTTTTGGCCCCAGGCGCTTCTCGGCTTCTCTCCTCAGGGTAGGTGGCCCCAGGGCCCTGCTCCCGCATTTCTCTCCAGTCTGTAGGGACTCAGGGTCTCATTCAGCACTCTACAGCCCTCCCAGAGGGAACAGGCCCGCCCCAGGTCTCAGCAAAAGCCGTCTGCGTGTCTGTCTTTGTCTTTTTACTAATTCTGTCTGGAGTGTTAACTCGGGTAGGACAGTGCTGGGCTTCCCCACCTTCCCTGCCCTTAACCCACACACGATGCTCCCCAGGTCCCATCCCCACCTGCCCTGTGCTGGGGGCAGAAGGATGTCCCATGAACTAACGCCTGGAAACACATCTGTACTTCCTAAGAATCCCATTGGCCCAGAAACGCTGCACATCCCTGTCCCAGAGGCAGCTCTTTGG
|
benign
| 1,025 |
Variant on chromosome 1, at position 3825835, affecting CEP104 (centrosomal protein 104): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Intellectual_developmental_disorder,_autosomal_recessive_77', 'Joubert_syndrome_25', 'Joubert_syndrome_and_related_disorders']
|
ATCGGGCAGGGGCCACTGTCAAGGATGGGGAAGCTACGGTCGGCCTGAGTGTGAAGCTTGGATGAGGGCGCAGAGTGGCTCAGTGGTTACAGTGTGGCCCAAGGTTGAAATTGTGGCTCCCCACTATTTCTAAGAATGCACACAGAAACAGGACCACAGAAAAGAATTTTAAGAGATTCTCTCGCTACGTTGGTGTCTCTGGCAGGAATGACTTGTATATACTCTATAACTTCAGGCCGCAGGACTTGACACACTGTGAGCCAGTTCAACCTCTTTTCTTCATAAATTACCCAGTCTTAGGGATATATATATTTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGCTGGAGTGCCATGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACAGGCATACACCACCACGCCTGGCTAATTCTGTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTAGGATTACAGGCGTGAGCCACCTGCCCAGCCAGGTATTTCTCTATAGTAATGCAAGAAAGGCCTAATATAGGGGATGGGGAAGACTTGTTACACAGGACACGAATAGCATGAACCATGAAAAAGACTGGCAAGGTGGGCAATGCTAACATTAAAAATGCGTCTCTTCCTCAAGACACTTCAGACAGCGAAGACTGCATGCTGTGGAGTGGGAGCAGATGGTCACAATTCATGCGACTGACCAACCACTCACATCCACGTGTATAAAGAACGGCCCCAAATCAATAAAAACAGATGGACAACCCGAGGGAAACCGGTGAGAAACCAGGTGCTTTGCAGGACAGCCAAGGCCTGCAGACAAAAGGACAGGCACTCCACCTCATCTTCACCAGGGACAGGCACAGGGGGAACTCACCAAGACAGCAGGAAGCATGGCCGCAGTGCCACTGTGGGAAGGGGGCAGTGGCACGGTGGGAAGGGGGCAGTGGCACCGTGGGAAGGGAGGCAGTGGCACCGTGGGAAGGGCGGCAGTGGCACCGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGACAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGAGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGCCTGTGCTGCTGGCAGTGGTGCCCAGGCACAACCCCTTTGGAGCACTCCTGGGCAGCCCCACTGAGCATCAGCACACCTGGCAATCCCACAACACATTGTGAACCCAAGAAAGTGCATTCCTGTGCATCCTGGAAGACACCAGAACGCTGTGGCAACATTGTTTATCATGGTCCCAAACTGGACGCAGCCCTGGCGCACAGCGGAAGGTGGATGAAGGTGCTGTGGTCCATTCAAGCAGTGGACACTATAAAGCAAGAAATCCAACATGACGCCACATGGTTCCGTTTCTACAAAGCTCAAAGAGCAAGGAGGACCCATTTGTGGTGTCAGAAATCAGACCCCTGCTGACTCTGGAAGGAGCCCCGAGGGGAGGTGGCGGCACAGCATGTTTCCGGTTCACTGGGCTGTCTGTCATATGGAATGACTCGCACGCATTTGCGGGTGTGTGCTTGGCTTCAGTTACTTTTCTCGCAACCTCTCCTCTGAAAATACTAAGACTTGGGACAGCTTTTTGACTCGGCCTTTCAACAGCCAGGTGTTCCCGCTCATGCAAGTAGCTGGCTGCTGTGCCGCTGGCCTGACCTGTTTGCAGTGGTCACATCTTGTCAGCATGAGACAGTGCTTCCAGTAGTGGAGATCCAGACCTTCCTCTGTGAAGGATTCACTCCTTTCCCCACAAAAAATACACAAACTGAAAGCAAAGCAAAGCAGGAAATAAAGGTAAGGATCTAGTTCCACTGATGGCCGTTCCGCTCCCACGTCACGAGGAAATTCTGAATTTCCCCAGTCCCTGTGATGTGTGCACTTTCCCTCTCATCTGGAACTGCCTCAGTTTGCTCTGCAGGGCCCGGGCTGGGCCTCCCTTGCAGGTGGCAGAGGAGGCTGGGTGTGCCATGTGTTAAAGCACGATAGGAAAGTCCTCACCAAGGAGGTGCCTGAAATCAACGGGCGAACGATCCTTCTGAAATTTCACTCAGCATCGTCAAGCAGAAAGGATATTTTAAGTTACAATAAACAGAGGGAAAGTTGTCTTGACTGACTCGGAGTGGATGCTGGTTAGTGCAGAAGGCACATTTCCTACCTTTTATGATGACTACGAAGGGCCAACTAGGGAGGACGCATTCCCTTTCCAGGGTTTCTGTGTGGCTGGTTGCCCTGACCATCGTACAATGGGTGGAAGACAGCGCGACTTACTTATCTAGATAGTGCTCATCCGGGATTCCCAGAGCTTCAGCAGGGGCTGCTTTCCCTCCTTGAATGTCTGAAGAGATTAAAACAATTTAAATAACTTTTTATAGAAATTATTTTCAAAATTTTAGTAAGCAGTTTGATGTGAGCTCTAAAACGATTATACAAGTAAAAAGGTAGCATGTTTTCCATTCAGCTGGGAGATGGCTGAGGTGCAGCAGGCGTGCAGTGATACTTGCTGAATGGACAGAAGCCGTTCCCACATGGAGCTTCCATGACATGCATTTACACACCCCGATTCTTTACACACCCCAGTTCTTTGTGCACCCCAATTCTTTACATACCCTGATTCTTTGGCTTCACAGCATCACTTTCTTTTTCCTAAGACACAGAAACAGTGAGGTCAGGGGCAAAGGGCTGCAGTGTGAGTGAGTGAGAGCCTGTTGAAGATATGTTTTCATCACGAAAGCACATTTCTGGGTTTTGTTTTAGAATTTCTACTGGCTGGCAAGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGTGGTGGATTGCTTGAGCTCAGGAGTTAAGACCAGCCTGGGCAACATGGCAAACAAAACCCTGTCTCTACAAAAAGTACAAAACTTAGCTGGGTGTGGTGGCGTGCCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGAGGGAGGATCACTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATCATGCCACTGCAGTTTCTCTCAAACTCAACCACTGACTGTGGAAAACACATGCAGAAGTGCAATTCTAGTTCCACAGACACCCACCCTGCCCCTAAAAAGAGCACAATTTTGTTCTTATTATCATTATTTTTAGACAGGGTCTCACTCTGTTGCCTAGGTTGGAAGTGGTACAAACACAACTCACTGCAGCTTTGGCCTCCTGGGTGCAAGCCATCCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCATGTCTGGCTAAGTTTTTTTTTTAAGTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTTCTGAAATCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGCAATTACAGGCATGAGTCACTGCGTCTGGCCGAGAGTATGATTTTAGAACCAGAAAAGGACTTAATATGTAAATTCTGAAAGTTCTGGAGATGGATGGTGGCGATGGTTGCACAACAATGTGAGAGCACTCCATGCCACCACAGTGTGCACTGAAAATGGTAAGATTTACACTCTGTGCATTTTACCCCAACAAAAAAAGAGAAAAATCCATCCCATCCCGTCATTCTCCTGGGAGAGGCCTTCACCAGGCCCTGTGTGGGGCGCAGGTCTGCGCTGGCCTCGAGGCCCCCACAACCCATGGCCCCCAGCACCCCGCAGCACAGACCCACTGCCTGGGTCTTTCTCCCTCGTCTGCTCCTCCCTGGAGCCCCAGCTCCATGAGGGTGGGACTTT
|
ATCGGGCAGGGGCCACTGTCAAGGATGGGGAAGCTACGGTCGGCCTGAGTGTGAAGCTTGGATGAGGGCGCAGAGTGGCTCAGTGGTTACAGTGTGGCCCAAGGTTGAAATTGTGGCTCCCCACTATTTCTAAGAATGCACACAGAAACAGGACCACAGAAAAGAATTTTAAGAGATTCTCTCGCTACGTTGGTGTCTCTGGCAGGAATGACTTGTATATACTCTATAACTTCAGGCCGCAGGACTTGACACACTGTGAGCCAGTTCAACCTCTTTTCTTCATAAATTACCCAGTCTTAGGGATATATATATTTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGCTGGAGTGCCATGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACAGGCATACACCACCACGCCTGGCTAATTCTGTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTAGGATTACAGGCGTGAGCCACCTGCCCAGCCAGGTATTTCTCTATAGTAATGCAAGAAAGGCCTAATATAGGGGATGGGGAAGACTTGTTACACAGGACACGAATAGCATGAACCATGAAAAAGACTGGCAAGGTGGGCAATGCTAACATTAAAAATGCGTCTCTTCCTCAAGACACTTCAGACAGCGAAGACTGCATGCTGTGGAGTGGGAGCAGATGGTCACAATTCATGCGACTGACCAACCACTCACATCCACGTGTATAAAGAACGGCCCCAAATCAATAAAAACAGATGGACAACCCGAGGGAAACCGGTGAGAAACCAGGTGCTTTGCAGGACAGCCAAGGCCTGCAGACAAAAGGACAGGCACTCCACCTCATCTTCACCAGGGACAGGCACAGGGGGAACTCACCAAGACAGCAGGAAGCATGGCCGCAGTGCCACTGTGGGAAGGGGGCAGTGGCACGGTGGGAAGGGGGCAGTGGCACCGTGGGAAGGGAGGCAGTGGCACCGTGGGAAGGGCGGCAGTGGCACCGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGACAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGAGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGGCACTGTGGGAAGGGGGCAGTGCCTGTGCTGCTGGCAGTGGTGCCCAGGCACAACCCCTTTGGAGCACTCCTGGGCAGCCCCACTGAGCATCAGCACACCTGGCAATCCCACAACACATTGTGAACCCAAGAAAGTGCATTCCTGTGCATCCTGGAAGACACCAGAACGCTGTGGCAACATTGTTTATCATGGTCCCAAACTGGACGCAGCCCTGGCGCACAGCGGAAGGTGGATGAAGGTGCTGTGGTCCATTCAAGCAGTGGACACTATAAAGCAAGAAATCCAACATGACGCCACATGGTTCCGTTTCTACAAAGCTCAAAGAGCAAGGAGGACCCATTTGTGGTGTCAGAAATCAGACCCCTGCTGACTCTGGAAGGAGCCCCGAGGGGAGGTGGCGGCACAGCATGTTTCCGGTTCACTGGGCTGTCTGTCATATGGAATGACTCGCACGCATTTGCGGGTGTGTGCTTGGCTTCAGTTACTTTTCTCGCAACCTCTCCTCTGAAAATACTAAGACTTGGGACAGCTTTTTGACTCGGCCTTTCAACAGCCAGGTGTTCCCGCTCATGCAAGTAGCTGGCTGCTGTGCCGCTGGCCTGACCTGTTTGCAGTGGTCACATCTTGTCAGCATGAGACAGTGCTTCCAGTAGTGGAGATCCAGACCTTCCTCTGTGAAGGATCACTCCTTTCCCCACAAAAAATACACAAACTGAAAGCAAAGCAAAGCAGGAAATAAAGGTAAGGATCTAGTTCCACTGATGGCCGTTCCGCTCCCACGTCACGAGGAAATTCTGAATTTCCCCAGTCCCTGTGATGTGTGCACTTTCCCTCTCATCTGGAACTGCCTCAGTTTGCTCTGCAGGGCCCGGGCTGGGCCTCCCTTGCAGGTGGCAGAGGAGGCTGGGTGTGCCATGTGTTAAAGCACGATAGGAAAGTCCTCACCAAGGAGGTGCCTGAAATCAACGGGCGAACGATCCTTCTGAAATTTCACTCAGCATCGTCAAGCAGAAAGGATATTTTAAGTTACAATAAACAGAGGGAAAGTTGTCTTGACTGACTCGGAGTGGATGCTGGTTAGTGCAGAAGGCACATTTCCTACCTTTTATGATGACTACGAAGGGCCAACTAGGGAGGACGCATTCCCTTTCCAGGGTTTCTGTGTGGCTGGTTGCCCTGACCATCGTACAATGGGTGGAAGACAGCGCGACTTACTTATCTAGATAGTGCTCATCCGGGATTCCCAGAGCTTCAGCAGGGGCTGCTTTCCCTCCTTGAATGTCTGAAGAGATTAAAACAATTTAAATAACTTTTTATAGAAATTATTTTCAAAATTTTAGTAAGCAGTTTGATGTGAGCTCTAAAACGATTATACAAGTAAAAAGGTAGCATGTTTTCCATTCAGCTGGGAGATGGCTGAGGTGCAGCAGGCGTGCAGTGATACTTGCTGAATGGACAGAAGCCGTTCCCACATGGAGCTTCCATGACATGCATTTACACACCCCGATTCTTTACACACCCCAGTTCTTTGTGCACCCCAATTCTTTACATACCCTGATTCTTTGGCTTCACAGCATCACTTTCTTTTTCCTAAGACACAGAAACAGTGAGGTCAGGGGCAAAGGGCTGCAGTGTGAGTGAGTGAGAGCCTGTTGAAGATATGTTTTCATCACGAAAGCACATTTCTGGGTTTTGTTTTAGAATTTCTACTGGCTGGCAAGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGTGGTGGATTGCTTGAGCTCAGGAGTTAAGACCAGCCTGGGCAACATGGCAAACAAAACCCTGTCTCTACAAAAAGTACAAAACTTAGCTGGGTGTGGTGGCGTGCCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGAGGGAGGATCACTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATCATGCCACTGCAGTTTCTCTCAAACTCAACCACTGACTGTGGAAAACACATGCAGAAGTGCAATTCTAGTTCCACAGACACCCACCCTGCCCCTAAAAAGAGCACAATTTTGTTCTTATTATCATTATTTTTAGACAGGGTCTCACTCTGTTGCCTAGGTTGGAAGTGGTACAAACACAACTCACTGCAGCTTTGGCCTCCTGGGTGCAAGCCATCCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTACAGGTGCTCACCACCATGTCTGGCTAAGTTTTTTTTTTAAGTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTTCTGAAATCAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGCAATTACAGGCATGAGTCACTGCGTCTGGCCGAGAGTATGATTTTAGAACCAGAAAAGGACTTAATATGTAAATTCTGAAAGTTCTGGAGATGGATGGTGGCGATGGTTGCACAACAATGTGAGAGCACTCCATGCCACCACAGTGTGCACTGAAAATGGTAAGATTTACACTCTGTGCATTTTACCCCAACAAAAAAAGAGAAAAATCCATCCCATCCCGTCATTCTCCTGGGAGAGGCCTTCACCAGGCCCTGTGTGGGGCGCAGGTCTGCGCTGGCCTCGAGGCCCCCACAACCCATGGCCCCCAGCACCCCGCAGCACAGACCCACTGCCTGGGTCTTTCTCCCTCGTCTGCTCCTCCCTGGAGCCCCAGCTCCATGAGGGTGGGACTTTN
|
pathogenic
| 1,089 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 3837356, gene CEP104 (centrosomal protein 104). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Intellectual_developmental_disorder,_autosomal_recessive_77', 'Joubert_syndrome_25', 'Joubert_syndrome_and_related_disorders']
|
TTAAAATATAAAAAGTATTAAATTCTCCAAGAGAAATATTTTAAAGCTGAGAACGAGGGAAAACCCTACTCATTTCTTTTTATTTTGAGACAAACTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGGCTCACTGCAACCTCTGTCCCCCTGCGGGTTCAAGCAATTCTCCTGCCTCAGTCTTCCAGCTAGCTGGGATTACAGGTGCCTGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCGCCTGGCCAACTCTACTCATTTCTATAAGGAGATACTTCCATCTTTTGCTATGCCATCCTTTTGCGCTGGAATTAGCTGGTATTCAGAAGGGAGCAGTTGTTTAATACAAGCTCCATGAATGCCAGAAGGAAACACCCAGGCTGAAATGAGTACTCACTGATACATCTTAGCTCATGTTTTTGCTGTTTCACATAATTTATAATTTACAGAAGGGCAGGCACGGTGGCTAATGTTTGTAATTCCAGCACTTTGGGAGGCCAAGGCCAGGAGTTCAAGGCTATAGTGAGTTATGATCACGCCACTGTACTCCACCCTGGGTGACAGAGTGACACTCTGTTTCATAAAAAAAAAAAAAAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACTCTATCTCTACTAAAAAAAAATTACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTAGGAGAACAGGGTGAAGCCAGGAGGCGGAGCTTGCAGTGAGCGGAGATCTTGCCACTGCACTCCAGCCTGGGTGAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTTAACAAAAGACTTTCCAATTCAGGAAGAACAAAGGGAAGTCAACAATATTACAAATGCAAAGCCGTGGGCGTTTTCCCTCCTTTATGTGTAAGTACACAGAGGTGTGCGTACCATATAGACTAGCCTCCCCTCTGCCACCCCGTTTTTTTTTTTTTTTTTTTTTTTTACCAAGGTTTCTCCCAACACATCGATGGCAGAGCTGGCTTCTCTCAAGGCCTTCTCGGTTAAGGGCTCTGGCTCCCCTAACATGCCTCCCCTCCGAGCATCGCTGATGTCTGCATTACTCATTTCCGGCTCCACCACTGCCTCCCCATAATGCTTACGAATAGCTGGAAGAGGCCGCTCATCGTAGGGCAGGGACTCTGCCTGCAGTGAGTGAAGGAGAGAGGAAAGTGCTGGGGAGCTCCATAGGTCACATTCTCCAGTGCAACTCTCACTGGCAGGCTTACTGCGCTTACTTACCTGATCTGAAAGATGTTATTTTGCTAAATATCAGTATCATCAGATTAGAATAATTTATACAACAAATAGGATGTAATTGAAAAGATTAGATGAGGCTTTCTATTACTTTCTAAACTCATTACAGACCTAATAAAAAAAAGCAAGGTAGATTCCACCTCAATGACTGTTTACTGGTAGCAATTTCAGTTCAACTGACATGGAGACTACTAAAGTAAAGGCTATTACATCTTTTTTTCTGACAAGATCTCTGATATTTTCTTAGTTTATTGCTTAGAAATAAGCATCAAGCCTGATTTTAATAAACATGCTCACAAGGTGTCATTAGGCCTATTCCTTATGTGGCTATGCTCTCACTCAGCACTATGGCTCCTAGAATGGAACAGAGGTGGGTCTGGCTGGGGAGCACTCATGCACCCCATGCATGGGAACAGCACCTGGCACAACACATGTCCTTTACAAATACCCAAATAAATTGAACGCCAATCTGAAACAGAATTACCTACATTGATCTTTGGATGAGGATCTGTGGCAGGGAGTAACGGGTCTACTGCAGAATGCTGAGGAGAAATAGTTAGAGAATATGATGAAGGCTTTTCCTGAAGGAAAGGTTCTGCAAACTGGTTTTCTGTTCCTCTTTCTTCCAGTTGTGGTAGTGAGGGCATTGGCTTTTGGTGGCAAGGACTGCCAGAACGAGCGAGGGGCTGGAGGGGCAAATCAAAAGGTCTTCGCATCTAGAGAACAAAAAGGAACATTTAATTTCAAATGCCACTGCCACGCCAGATATATCTATCTCATTCCTTCAGATGAATAAGACTTTAGAAAGCTGTGCTGGAAGAGGCTCCTTGGCACAATGAAAAATTTCAAAACCAAAGAGAAACTTCCACAGAGTGAAATCTACTTGAAAGTCCCACACAATCAAGTTGCACTCATCTCAGTTGTCTCTCCACATTTCTGTGTTGACTACAAAAGTGACATACACATCCAAAATGCTAGTGAAGGAATGAGCATTTGTGCATGGAGCATGTCCACACATATGTGCCCCTGCAGGAGCACGGTGGTGTGGAGAAAGCACCTGGGCTGGACCCAAGTGGACTTTTATTCAAAATCTGGCACTGCTATTCACTGTGTGTACAAAGGAAAGTGATGTTGTGTCATCCCAACAAGCAAAGCTGACTGACCAGTTGCTGCACACTAGGCATGGTACTGAGTGTTTTGGACAGGTAGGCTCATTAATGCTTACTCTGTTTACCCCCATTTGAAAGCTGATGGAAAACTGAGGCATAAAGCTGATAAGAATTAGTCTGTGATCACAGAGCTGGAATGGTGGTGCCCGGATTTGAACCCAGACAGTCCAGCTCCAGAGTGTGCTCTCTTGTTTTTCAGAGGCAGGGTCTCGCTCCATCACCAAGGCTGGAGTGCAGTGGTGCGATCGTAGCTCACTGCAGCCTCGAACTTCTGGGCCCAAGTGATCCTCCTGTCTCACTCTCCTGAGTAGCTAGGACTACAGGTGTGTGCCACCAGGCCTGGCTATTACTTACTTTTTGTAGAGACAGGGTCTCTCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAACAATCCTCCAGCCTTGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTGAGAGTGTGCACTCTCAATCACTATTCCGTATCTCAGAACCTTCATTTCCTAATCTGTAACGTGGGCTGAGTGCCCCATTTGCATGAGTTCTAAAATCAGAGGCAGAGCACCTTATGGGAAATATGTTCTCAATACACCGAAGCTGTTAGCATTACGTTCTCACTTGATCCTTACAACACTGAGGGGTCAGTGGGGCAGGGTCATCACTGCCTTTTCCAAATAAGGAAGCAGCTGGAGAGATGAAGGGATGCAGCAGAAAAGCAGCAGGGCCTCGGTTTTCCTGACCCCGGTTTGTTCCCTTTCCCACGACTGTGAGTCTCCTGAAAGAACATGCTGAGGCAAAGCCTCCCTGACGTAGGCACAGAGCTGAGGCCATCCATAACTGTCCCCTGAGCACTGCAGAGTGTTTTACACTACACTTCAAAGACATCTATCCACTGTTGTGAACCACACAGTTGAATCTCTGTTCTCCTAGGCTTTCCTCCACTCCGTCTGGGCTCCTGCACCCACCAGCTCGGCATCCAGGAGGCTGTGCAGCTCCAGCTGCTCGTACACCTCGGCACGATACTGCTCCATCTGCTGCTTCTTCTCCTTGGCGAGATCGTAGTCTTCCTTCTCCACGGCACAGCGTTTCTCTACCTCATACCTCCCAAGGCGTTCACCAACCTGAAGCACAAAATATTTGCTTTTTCTTTCAAATTTGGATCAACTCACATCAAATGCAAAGCTAATTTTTAAGAATCACGCGTGAACCGTCTTGCAAGGAGAGGGAGTGAGCACAGGGAAATGGAAGGAATGGGCCACACTCAGCAAAGGTCTGGCTGCTGTTGCTGTATGGGCATTTAATAAGCTCATGGTTTGGTTATGACTTTCAGGATAGCTGGTTTTCCTATTTTCCCATTGGGCTCAGGGTCCTAGTAACGAGGTAGCTGACCCTGACACCTGAACGT
|
TTAAAATATAAAAAGTATTAAATTCTCCAAGAGAAATATTTTAAAGCTGAGAACGAGGGAAAACCCTACTCATTTCTTTTTATTTTGAGACAAACTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGGCTCACTGCAACCTCTGTCCCCCTGCGGGTTCAAGCAATTCTCCTGCCTCAGTCTTCCAGCTAGCTGGGATTACAGGTGCCTGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCGCCTGGCCAACTCTACTCATTTCTATAAGGAGATACTTCCATCTTTTGCTATGCCATCCTTTTGCGCTGGAATTAGCTGGTATTCAGAAGGGAGCAGTTGTTTAATACAAGCTCCATGAATGCCAGAAGGAAACACCCAGGCTGAAATGAGTACTCACTGATACATCTTAGCTCATGTTTTTGCTGTTTCACATAATTTATAATTTACAGAAGGGCAGGCACGGTGGCTAATGTTTGTAATTCCAGCACTTTGGGAGGCCAAGGCCAGGAGTTCAAGGCTATAGTGAGTTATGATCACGCCACTGTACTCCACCCTGGGTGACAGAGTGACACTCTGTTTCATAAAAAAAAAAAAAAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACTCTATCTCTACTAAAAAAAAATTACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTAGGAGAACAGGGTGAAGCCAGGAGGCGGAGCTTGCAGTGAGCGGAGATCTTGCCACTGCACTCCAGCCTGGGTGAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTTAACAAAAGACTTTCCAATTCAGGAAGAACAAAGGGAAGTCAACAATATTACAAATGCAAAGCCGTGGGCGTTTTCCCTCCTTTATGTGTAAGTACACAGAGGTGTGCGTACCATATAGACTAGCCTCCCCTCTGCCACCCCGTTTTTTTTTTTTTTTTTTTTTTTTACCAAGGTTTCTCCCAACACATCGATGGCAGAGCTGGCTTCTCTCAAGGCCTTCTCGGTTAAGGGCTCTGGCTCCCCTAACATGCCTCCCCTCCGAGCATCGCTGATGTCTGCATTACTCATTTCCGGCTCCACCACTGCCTCCCCATAATGCTTACGAATAGCTGGAAGAGGCCGCTCATCGTAGGGCAGGGACTCTGCCTGCAGTGAGTGAAGGAGAGAGGAAAGTGCTGGGGAGCTCCATAGGTCACATTCTCCAGTGCAACTCTCACTGGCAGGCTTACTGCGCTTACTTACCTGATCTGAAAGATGTTATTTTGCTAAATATCAGTATCATCAGATTAGAATAATTTATACAACAAATAGGATGTAATTGAAAAGATTAGATGAGGCTTTCTATTACTTTCTAAACTCATTACAGACCTAATAAAAAAAAGCAAGGTAGATTCCACCTCAATGACTGTTTACTGGTAGCAATTTCAGTTCAACTGACATGGAGACTACTAAAGTAAAGGCTATTACATCTTTTTTTCTGACAAGATCTCTGATATTTTCTTAGTTTATTGCTTAGAAATAAGCATCAAGCCTGATTTTAATAAACATGCTCACAAGGTGTCATTAGGCCTATTCCTTATGTGGCTATGCTCTCACTCAGCACTATGGCTCCTAGAATGGAACAGAGGTGGGTCTGGCTGGGGAGCACTCATGCACCCCATGCATGGGAACAGCACCTGGCACAACACATGTCCTTTACAAATACCCAAATAAATTGAACGCCAATCTGAAACAGAATTACCTACATTGATCTTTGGATGAGGATCTGTGGCAGGGAGTAACGGGTCTACTGCAGAATGCTGAGGAGAAATAGAGAATATGATGAAGGCTTTTCCTGAAGGAAAGGTTCTGCAAACTGGTTTTCTGTTCCTCTTTCTTCCAGTTGTGGTAGTGAGGGCATTGGCTTTTGGTGGCAAGGACTGCCAGAACGAGCGAGGGGCTGGAGGGGCAAATCAAAAGGTCTTCGCATCTAGAGAACAAAAAGGAACATTTAATTTCAAATGCCACTGCCACGCCAGATATATCTATCTCATTCCTTCAGATGAATAAGACTTTAGAAAGCTGTGCTGGAAGAGGCTCCTTGGCACAATGAAAAATTTCAAAACCAAAGAGAAACTTCCACAGAGTGAAATCTACTTGAAAGTCCCACACAATCAAGTTGCACTCATCTCAGTTGTCTCTCCACATTTCTGTGTTGACTACAAAAGTGACATACACATCCAAAATGCTAGTGAAGGAATGAGCATTTGTGCATGGAGCATGTCCACACATATGTGCCCCTGCAGGAGCACGGTGGTGTGGAGAAAGCACCTGGGCTGGACCCAAGTGGACTTTTATTCAAAATCTGGCACTGCTATTCACTGTGTGTACAAAGGAAAGTGATGTTGTGTCATCCCAACAAGCAAAGCTGACTGACCAGTTGCTGCACACTAGGCATGGTACTGAGTGTTTTGGACAGGTAGGCTCATTAATGCTTACTCTGTTTACCCCCATTTGAAAGCTGATGGAAAACTGAGGCATAAAGCTGATAAGAATTAGTCTGTGATCACAGAGCTGGAATGGTGGTGCCCGGATTTGAACCCAGACAGTCCAGCTCCAGAGTGTGCTCTCTTGTTTTTCAGAGGCAGGGTCTCGCTCCATCACCAAGGCTGGAGTGCAGTGGTGCGATCGTAGCTCACTGCAGCCTCGAACTTCTGGGCCCAAGTGATCCTCCTGTCTCACTCTCCTGAGTAGCTAGGACTACAGGTGTGTGCCACCAGGCCTGGCTATTACTTACTTTTTGTAGAGACAGGGTCTCTCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAACAATCCTCCAGCCTTGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTGAGAGTGTGCACTCTCAATCACTATTCCGTATCTCAGAACCTTCATTTCCTAATCTGTAACGTGGGCTGAGTGCCCCATTTGCATGAGTTCTAAAATCAGAGGCAGAGCACCTTATGGGAAATATGTTCTCAATACACCGAAGCTGTTAGCATTACGTTCTCACTTGATCCTTACAACACTGAGGGGTCAGTGGGGCAGGGTCATCACTGCCTTTTCCAAATAAGGAAGCAGCTGGAGAGATGAAGGGATGCAGCAGAAAAGCAGCAGGGCCTCGGTTTTCCTGACCCCGGTTTGTTCCCTTTCCCACGACTGTGAGTCTCCTGAAAGAACATGCTGAGGCAAAGCCTCCCTGACGTAGGCACAGAGCTGAGGCCATCCATAACTGTCCCCTGAGCACTGCAGAGTGTTTTACACTACACTTCAAAGACATCTATCCACTGTTGTGAACCACACAGTTGAATCTCTGTTCTCCTAGGCTTTCCTCCACTCCGTCTGGGCTCCTGCACCCACCAGCTCGGCATCCAGGAGGCTGTGCAGCTCCAGCTGCTCGTACACCTCGGCACGATACTGCTCCATCTGCTGCTTCTTCTCCTTGGCGAGATCGTAGTCTTCCTTCTCCACGGCACAGCGTTTCTCTACCTCATACCTCCCAAGGCGTTCACCAACCTGAAGCACAAAATATTTGCTTTTTCTTTCAAATTTGGATCAACTCACATCAAATGCAAAGCTAATTTTTAAGAATCACGCGTGAACCGTCTTGCAAGGAGAGGGAGTGAGCACAGGGAAATGGAAGGAATGGGCCACACTCAGCAAAGGTCTGGCTGCTGTTGCTGTATGGGCATTTAATAAGCTCATGGTTTGGTTATGACTTTCAGGATAGCTGGTTTTCCTATTTTCCCATTGGGCTCAGGGTCCTAGTAACGAGGTAGCTGACCCTGACACCTGAACGTNNNN
|
pathogenic
| 1,142 |
Gene CEP104 (centrosomal protein 104) variant at chromosome 1, position 3847599—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Joubert_syndrome_25']
|
GTGAGCCACCATGCCCTGCTAATTTTTGTGTTTTTTTGCAGAGATAGGATTTCACCATGTTGCCCAGGCTGGACTTAACCCCTTTATAACAAACTCTGACCTACACTGTTATCAAATGGGATGATGTATATCAAAGCGTATTAATTGTTAAAATGTTATGCCAATATAAATAATTTTTAATAATTAACAAAGAATTTTAAATAAATTATGTTAGTATTCTAATGCTAACCAAATGGTTATTTTTAACCATTTAAAGCCTGGGCGCGGTGCCTCATGCCTGTAATCCCATCACTATGGGAGGCCAAGGTGGAAGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGTGAGACAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTAGGCAACAAGAGTCAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGTTCAAATCATAATAGCTAAAAACTCCCAAAGTTTTAACATAGCCTCAAAATGAGACATCCACGTGAGATTCAGTATGGAGCTCATCTTTGAAGGATCTTGGGAAATTAGACAATGAAAAGTTAACACAGCTCAGTTCCCAGTTGGTGAGTCTCACCTGAGGTGGGGAGTCACTTTTCCATCCTGCACCCCCAACCACTGTAGACTAACCCCACACCGCTTCCAAAAATGCAAAGGTTCAAGACAGGCACATTTGGGGCAGGAGGGCAGCTGGCACAAACTGGGAAACCGAGCAAGTTTTGAAATGAAATTTTTTAGTCTTTCATGTCAGTGAAGTGCTGCTTTAGATAGTTACTGCTTTTAAATGCAGGGCACATATATTATCATTCATGACGAGATTATCTGAACATAAGGACAATAAATAATCTATTATTTAAAAATCTTTATTAAAAAAACAAAACTCCAAACTGTTTAAAGAAAACCAAGACAACAGCCAGGTCATTGCTGGTAAATACATGCAGGTGGGTGGAGGAAGGAACAGGGTTAAGACTCATTCTTCTGGCTTCCTGGCGTGTTATGCTGCAAGGGGCCAGGCAGCTTAATTGGACCTTTGCGCTCTTGTCCAGCTCACCCGCTTGGTCTAGAGATTTGATTTGCTGGGTGCTCACATTCCTCTTGGAGGGGGCAGGGAGAGTTGTAAATGCTTGTGCTAATTAACAAGATTGCTTTGGACACAATTGATTTCTACTACACTAATCATGTGAGAAAAAGAAAAAAAGAAGGAAAGAAAGGGAGGGAGGAAGGAAGAGATGAAGAATTAGCAGCCTGAAGCTGGAGAGATTCTGGATTACATGCAACATTCATGTGTCCACAATTTCCACCAGGGAATTTACCTTGTGCACGTTGGGAGGGTTTATTTACAACTGTGCTGTCCTACACAAATAGGATGTGAGCCACATATGTCATTAAGGTTAAGTAGGCACATTAAAAAATTTAAAAATGCAATTAATTTTAAAAATATAGGTTAACACAACATATCCAAAATATTATCATTTCATCACATACAATTGACATAAAAGTTCTCATGAACTCTTTCGCGTTCTCCTTTTGTACTGAGTCTCTGAAGCCCACTGTCTGGTGATGCTGGCAGCAGCTCTGGGCACTAGGCCAGTTCGTGGTGGGCACTGGCCACGTGTGCCCAGAGGCTGCTGGATCAGACAGCACAGCTCAGAGAGCTCAGCAGTCTCCCAGAAGAGATCCTCTCTTATAAGATCACCTTGAAAATGCATCTAAGAAAAGATACGTGACCACATAATCCCACAAAGAAGGTAGGGGCAGAATCAAAGGCGAAGCTGCATGCATCTTACCTGATTATATATGTTGTATTTGTTGACATGGTTTTGGTGAAAAATCAGTTTAAGAAATTGTCCTACTGCATCCACATAAACTGATTTTAGTTCCCGGGCTTTGCAACCTGTCTTTTCATTATCACAGAGAGACACGTAGCTGAAAAACAAAACACAACTGAAGAATTTGAAAATGTGCTGTTCAATAAAACTGCTCCCTACTCTGATTGAACTCAATAGGCTCATTTATGTTTATTGTTTTATTTTTTAAAGCTAGACTACCCCTATGCAGGATCAACAGGTTTGAATAAAAGCTAAGTCTAGAATGAAAAACCTAGGAAAAACCCCTAGAACTCAAATTCTAATTAGTATTCTTCTTTTGTTGTTGTTGTTGTTGTTGAGATGGAGTCTTGTTCTGCTACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTCCAACCTCCACCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGACGCTCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACACGGTTTCACCATGTTGGCCAGATTGGTCATCTAATTAGCATTCTTAAGAAAATTTCCACATCTGAAAAGTAGAGTTGAATAGCAGAATTCATAGAAATTATAGCGCTGCTTTTTAAGCACATTCAATAAGAGGCAGGTGTTAAGAAACTGTGTACTCTTGAACCAAATAGAAGTACATAACACAGGACCAAAAGTTAAGGGACAATTCATTTTTAAGAGCTTTCAGGGCCGAGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCAACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAGCTTTCAGGTAGAATTAGCCTAAAAGCTGCCATGATACATTTTAAATTTCATTCTTACCCAAGTCTTCGAAACCGCTCTGCTTGATAGGGTGCAAAATATTCAGGCAAGCTTTCACTAATGTAGAACTCAATTTTACTTGAAATCATATACTGGTGAGCAAGTAACTGCAGTTTCCTTATTCGACATCTCTCCACCATTTGAAGGACAATTTCTTGTGGAAACTGGCAAAATCTGAAAGCAAACACATTTTTATATTTTCTGAACAACTTCTGCAGAGGGTTTCTAGATGCTAGCATCTCATTCTTGCAGGTAAGAAGCATTAACCACACACCCACTTTGAACAGAACAGTCTGTAGGTACTGATGGTACAAAGATGCCTGCGACATGATTCCTGTTCTCTCGAGCTTTTCTTGTTGGAGCTGAAGCTGGGAATTGAAATTTGACTTGATCTGCCTGTAACCCTATAGGAATCATACTCTTGGCAGCTAGTAAATGGTCTGATGTGAAACCTGCAGTTTTTCATAAGATAAATCAATCTTATGAGGCGGCACTAGTGGGCAGGACGGAGCCAAAGGATTTTCCACAGGAACTCAAATGCTTAAGGGCCCCAAGGTATCAATATTTAAGGAGTGCCTGCCTTTCACGCATAGTGGTCTAGGGAGACAAGCCTATGCTATGGGCCATGCTGGAGCTTCTTTGCTCAAAAGTGACATAACTTTTTTTTTTTTTTTTTTTGGGAAAAGGTCTCGCTCTGTCACCCAGGCTGCAGCGGTGTGATTATGGCTCACTGCATCTTTGATCTCCTGGGCTCAAGTGACCCTCCTACCTCAGCCTCCTGAGGAGTTGGGACCACAGGTGTGTGCCACTGTGCCTGGCTAAAATTTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAGGGGATCCTCCCCCTTCGGCCTCCCAAAGGGCTGTGATTACAGGTGTGAGCCACTGGGCCCAGCCCAAAAGTAACACAACGTATTAAATAACTAAGAGTTGGGTAGAGAATCACAGCAGTCAGCAAAGACCCCACACTGCTTCCAAAAATGCAAAAGTTCAAGACAGGCACATTTGGGGCA
|
GTGAGCCACCATGCCCTGCTAATTTTTGTGTTTTTTTGCAGAGATAGGATTTCACCATGTTGCCCAGGCTGGACTTAACCCCTTTATAACAAACTCTGACCTACACTGTTATCAAATGGGATGATGTATATCAAAGCGTATTAATTGTTAAAATGTTATGCCAATATAAATAATTTTTAATAATTAACAAAGAATTTTAAATAAATTATGTTAGTATTCTAATGCTAACCAAATGGTTATTTTTAACCATTTAAAGCCTGGGCGCGGTGCCTCATGCCTGTAATCCCATCACTATGGGAGGCCAAGGTGGAAGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGTGAGACAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTAGGCAACAAGAGTCAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGTTCAAATCATAATAGCTAAAAACTCCCAAAGTTTTAACATAGCCTCAAAATGAGACATCCACGTGAGATTCAGTATGGAGCTCATCTTTGAAGGATCTTGGGAAATTAGACAATGAAAAGTTAACACAGCTCAGTTCCCAGTTGGTGAGTCTCACCTGAGGTGGGGAGTCACTTTTCCATCCTGCACCCCCAACCACTGTAGACTAACCCCACACCGCTTCCAAAAATGCAAAGGTTCAAGACAGGCACATTTGGGGCAGGAGGGCAGCTGGCACAAACTGGGAAACCGAGCAAGTTTTGAAATGAAATTTTTTAGTCTTTCATGTCAGTGAAGTGCTGCTTTAGATAGTTACTGCTTTTAAATGCAGGGCACATATATTATCATTCATGACGAGATTATCTGAACATAAGGACAATAAATAATCTATTATTTAAAAATCTTTATTAAAAAAACAAAACTCCAAACTGTTTAAAGAAAACCAAGACAACAGCCAGGTCATTGCTGGTAAATACATGCAGGTGGGTGGAGGAAGGAACAGGGTTAAGACTCATTCTTCTGGCTTCCTGGCGTGTTATGCTGCAAGGGGCCAGGCAGCTTAATTGGACCTTTGCGCTCTTGTCCAGCTCACCCGCTTGGTCTAGAGATTTGATTTGCTGGGTGCTCACATTCCTCTTGGAGGGGGCAGGGAGAGTTGTAAATGCTTGTGCTAATTAACAAGATTGCTTTGGACACAATTGATTTCTACTACACTAATCATGTGAGAAAAAGAAAAAAAGAAGGAAAGAAAGGGAGGGAGGAAGGAAGAGATGAAGAATTAGCAGCCTGAAGCTGGAGAGATTCTGGATTACATGCAACATTCATGTGTCCACAATTTCCACCAGGGAATTTACCTTGTGCACGTTGGGAGGGTTTATTTACAACTGTGCTGTCCTACACAAATAGGATGTGAGCCACATATGTCATTAAGGTTAAGTAGGCACATTAAAAAATTTAAAAATGCAATTAATTTTAAAAATATAGGTTAACACAACATATCCAAAATATTATCATTTCATCACATACAATTGACATAAAAGTTCTCATGAACTCTTTCGCGTTCTCCTTTTGTACTGAGTCTCTGAAGCCCACTGTCTGGTGATGCTGGCAGCAGCTCTGGGCACTAGGCCAGTTCGTGGTGGGCACTGGCCACGTGTGCCCAGAGGCTGCTGGATCAGACAGCACAGCTCAGAGAGCTCAGCAGTCTCCCAGAAGAGATCCTCTCTTATAAGATCACCTTGAAAATGCATCTAAGAAAAGATACGTGACCACATAATCCCACAAAGAAGGTAGGGGCAGAATCAAAGGCGAAGCTGCATGCATCTTACCTGATTATATATGTTGTATTTGTTGACATGGTTTTGGTGAAAAATCAGTTTAAGAAATTGTCCTACTGCATCCACATAAACTGATTTTAGTTCCCGGGCTTTGCAACCTGTCTTTTCATTATCACAGAGACACGTAGCTGAAAAACAAAACACAACTGAAGAATTTGAAAATGTGCTGTTCAATAAAACTGCTCCCTACTCTGATTGAACTCAATAGGCTCATTTATGTTTATTGTTTTATTTTTTAAAGCTAGACTACCCCTATGCAGGATCAACAGGTTTGAATAAAAGCTAAGTCTAGAATGAAAAACCTAGGAAAAACCCCTAGAACTCAAATTCTAATTAGTATTCTTCTTTTGTTGTTGTTGTTGTTGTTGAGATGGAGTCTTGTTCTGCTACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTCCAACCTCCACCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGACGCTCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACACGGTTTCACCATGTTGGCCAGATTGGTCATCTAATTAGCATTCTTAAGAAAATTTCCACATCTGAAAAGTAGAGTTGAATAGCAGAATTCATAGAAATTATAGCGCTGCTTTTTAAGCACATTCAATAAGAGGCAGGTGTTAAGAAACTGTGTACTCTTGAACCAAATAGAAGTACATAACACAGGACCAAAAGTTAAGGGACAATTCATTTTTAAGAGCTTTCAGGGCCGAGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCAACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAGCTTTCAGGTAGAATTAGCCTAAAAGCTGCCATGATACATTTTAAATTTCATTCTTACCCAAGTCTTCGAAACCGCTCTGCTTGATAGGGTGCAAAATATTCAGGCAAGCTTTCACTAATGTAGAACTCAATTTTACTTGAAATCATATACTGGTGAGCAAGTAACTGCAGTTTCCTTATTCGACATCTCTCCACCATTTGAAGGACAATTTCTTGTGGAAACTGGCAAAATCTGAAAGCAAACACATTTTTATATTTTCTGAACAACTTCTGCAGAGGGTTTCTAGATGCTAGCATCTCATTCTTGCAGGTAAGAAGCATTAACCACACACCCACTTTGAACAGAACAGTCTGTAGGTACTGATGGTACAAAGATGCCTGCGACATGATTCCTGTTCTCTCGAGCTTTTCTTGTTGGAGCTGAAGCTGGGAATTGAAATTTGACTTGATCTGCCTGTAACCCTATAGGAATCATACTCTTGGCAGCTAGTAAATGGTCTGATGTGAAACCTGCAGTTTTTCATAAGATAAATCAATCTTATGAGGCGGCACTAGTGGGCAGGACGGAGCCAAAGGATTTTCCACAGGAACTCAAATGCTTAAGGGCCCCAAGGTATCAATATTTAAGGAGTGCCTGCCTTTCACGCATAGTGGTCTAGGGAGACAAGCCTATGCTATGGGCCATGCTGGAGCTTCTTTGCTCAAAAGTGACATAACTTTTTTTTTTTTTTTTTTTGGGAAAAGGTCTCGCTCTGTCACCCAGGCTGCAGCGGTGTGATTATGGCTCACTGCATCTTTGATCTCCTGGGCTCAAGTGACCCTCCTACCTCAGCCTCCTGAGGAGTTGGGACCACAGGTGTGTGCCACTGTGCCTGGCTAAAATTTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAGGGGATCCTCCCCCTTCGGCCTCCCAAAGGGCTGTGATTACAGGTGTGAGCCACTGGGCCCAGCCCAAAAGTAACACAACGTATTAAATAACTAAGAGTTGGGTAGAGAATCACAGCAGTCAGCAAAGACCCCACACTGCTTCCAAAAATGCAAAAGTTCAAGACAGGCACATTTGGGGCANN
|
pathogenic
| 1,164 |
Determine if the mutation at chromosome 1, position 5865141 in gene NPHP4 (nephrocystin 4) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
TACTACAAAATGACCAGCGCTCGGTCTCTGCTTCCTCAGCCAAGTGCACAGGTCAGCCAGGTGGGCACTGAAGTGAAAGGCTGCAGAGAGGCGGGGAGGACAGCCTGCAGGGCAGGAGGGGCACAGACAGGCCCCAGCTGGGTGCCGCAGGAAGGACGTCACCCTCAAGCCCTCACTGGTAGATGACCTTCACGCAAAATGCCTCTTCGTTTTTGTCCTCATGGTCATTGATGTAGATCAGGATCTCCTCCTCACCCACTCTCTGACTAGGCGCAAACTGCAAGCCGATGGTGTAGGTCTCTCCACCCCCGACCTGGAAATAAGCATCCAAATCCCAGCATCCACCCCCGGGCTGTCCCACGCTCTCACCAGCAACCTCTCTGCATGGTCGTGTTTATTTCCAAGGGGAGCTGACAAGGCAGGGGAGCCCTGCGGGTGCATCCAAGGCCTGCCTTTGACTTCAGCGCCCGGTACAAGGATGGGAACCAGTGCTCAGCCAGTGTGACGCGTTACTTGGACTCGAAGGCACACTTATTTCCGAGACTGAGCTGTCTAACATTACCATGAAAAGCCCTGGGCACAACACCCTTTCCCACACTCAGGAGAAACTTTGCTAAATCTCCAGCTACTAAAGATACAACGGGCCCACCCAACTATGGGATGGTACCTGTCACCGCCCTGGGGCTTTTGGAAGACTGCTGGTGATTTGAGGAACTCGCTCCTAAATGCAGGCTAACTGCCCTCCATTCAGGTCCCCGGGTCTTCCCCTAGGAGTCCCAGGCACAGCCCCACCACACCTGGAAGGAGTCCTCTCTGAACCGCAGCAGCTCCGGGTGGTCGCTGTGCAGGTGGAATGTCCTCCGGGAGGGGTAGGGGTTGGTGTAGGTGATCCTCTTGTTGACACCCTTCCCTTCGCCCGCAGCCAACATGATCTCAAAGGCCTGTGGAGGGAGGGGACAGGGAGACGCTGCGGCCACTCACGGGAACAGCCACTGGCCCTTCCTCCAAGTATTCCCTGAGTCTCCTGTGCACCGTGCACGGGGACCCCCACAGAGATAAGACAGACGCTCTCTGGAGCTTCCATCCGGGAGAGACACAGCACAGGAGCAAACACTCATGCACCCGGCCCTGCTGGGTCAGAACACTGTATCCAGTGGTCCGAGTCACAGGGCCGAGGTGGGGGTCCTGCAGTGCCCTGGTATTGAGCCCCCATCCCCTCAGCCTGTGCCTGCCACACATACAGACCTTGGAGATGAGCGGCTGGCGGCAGCAGAGGCACACGAGCCAGGAGGCCACCAGCTGGTGGCAATCCACGTCCACCAGGTTGAGATGGACAAAGCGGCTGCCGGCCCTAAGGGGCCTCACGCCAACATGCAGGTCCTGCACCCCACGAGGCGGCAGCACGAAGACACCTTTGGGGTCTGTCTTCAAGAGCGAGAGAGGCGGGTCAGAGCACAGCCTCTCAGGATGTGCAAGCAAGGGGCTCCTGGGCGCCTGCAGCCCAATCAGCCAGGGGAGCCCAAGGTCATGGGTGGTTCCGGGGCGGCCAAATCTGAGGCCACAACCAACCCTGACATGACTGTGGCCGCGACTTGGGTCCACACCAGGCAAGTCCCTCCTCTCACACGGCGACTATTCCCTAAGCGCTGCCTCCGCAGACAGAACTGAAGCCATCTTGGGCTTAAAACCCCGGCCAGCTGGTGGCACCAGGGGCCGCCCTCCCACCCCGTCTAACTGTGGCTTCACTAACACCAGAGCTCCTGTCACTGTTCACCTTGCCAGGAATTCTGAACACCGGCCTTTGGGGTTGGTGTGTACGTCACTCACCCCACAATGGCACATCTAACGAAAGGCAACTGCCGAGAGGCCTCTGGTAACAGCGTCTGCGCGCTGGAGGCGCTGGAAAAGCTGCTGTCAGGGCCACCCACTGTGCTCCAGCTGAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTAC
|
TACTACAAAATGACCAGCGCTCGGTCTCTGCTTCCTCAGCCAAGTGCACAGGTCAGCCAGGTGGGCACTGAAGTGAAAGGCTGCAGAGAGGCGGGGAGGACAGCCTGCAGGGCAGGAGGGGCACAGACAGGCCCCAGCTGGGTGCCGCAGGAAGGACGTCACCCTCAAGCCCTCACTGGTAGATGACCTTCACGCAAAATGCCTCTTCGTTTTTGTCCTCATGGTCATTGATGTAGATCAGGATCTCCTCCTCACCCACTCTCTGACTAGGCGCAAACTGCAAGCCGATGGTGTAGGTCTCTCCACCCCCGACCTGGAAATAAGCATCCAAATCCCAGCATCCACCCCCGGGCTGTCCCACGCTCTCACCAGCAACCTCTCTGCATGGTCGTGTTTATTTCCAAGGGGAGCTGACAAGGCAGGGGAGCCCTGCGGGTGCATCCAAGGCCTGCCTTTGACTTCAGCGCCCGGTACAAGGATGGGAACCAGTGCTCAGCCAGTGTGACGCGTTACTTGGACTCGAAGGCACACTTATTTCCGAGACTGAGCTGTCTAACATTACCATGAAAAGCCCTGGGCACAACACCCTTTCCCACACTCAGGAGAAACTTTGCTAAATCTCCAGCTACTAAAGATACAACGGGCCCACCCAACTATGGGATGGTACCTGTCACCGCCCTGGGGCTTTTGGAAGACTGCTGGTGATTTGAGGAACTCGCTCCTAAATGCAGGCTAACTGCCCTCCATTCAGGTCCCCGGGTCTTCCCCTAGGAGTCCCAGGCACAGCCCCACCACACCTGGAAGGAGTCCTCTCTGAACCGCAGCAGCTCCGGGTGGTCGCTGTGCAGGTGGAATGTCCTCCGGGAGGGGTAGGGGTTGGTGTAGGTGATCCTCTTGTTGACACCCTTCCCTTCGCCCGCAGCCAACATGATCTCAAAGGCCTGTGGAGGGAGGGGACAGGGAGACGCTGCGGCCACTCACGGGAACAGCCACTGGCCCTTCCTCCAAGTATTCCCTGAGTCTCCTGTGCACCGTGCACGGGGACCCCCACAGAGATAAGACAGACGCTCTCTGGAGCTTCCATCCGGGAGAGACACAGCACAGGAGCAAACACTCATGCACCCGGCCCTGCTGGGTCAGAACACTGTATCCAGTGGTCCGAGTCACAGGGCCGAGGTGGGGGTCCTGCAGTGCCCTGGTATTGAGCCCCCATCCCCTCAGCCTGTGCCTGCCACACATACAGACCTTGGAGATGAGCGGCTGGCGGCAGCAGAGGCACACGAGCCAGGAGGCCACCAGCTGGTGGCAATCCACGTCCACCAGGTTGAGATGGACAAAGCGGCTGCCGGCCCTAAGGGGCCTCACGCCAACATGCAGGTCCTGCACCCCACGAGGCGGCAGCACGAAGACACCTTTGGGGTCTGTCTTCAAGAGCGAGAGAGGCGGGTCAGAGCACAGCCTCTCAGGATGTGCAAGCAAGGGGCTCCTGGGCGCCTGCAGCCCAATCAGCCAGGGGAGCCCAAGGTCATGGGTGGTTCCGGGGCGGCCAAATCTGAGGCCACAACCAACCCTGACATGACTGTGGCCGCGACTTGGGTCCACACCAGGCAAGTCCCTCCTCTCACACGGCGACTATTCCCTAAGCGCTGCCTCCGCAGACAGAACTGAAGCCATCTTGGGCTTAAAACCCCGGCCAGCTGGTGGCACCAGGGGCCGCCCTCCCACCCCGTCTAACTGTGGCTTCACTAACACCAGAGCTCCTGTCACTGTTCACCTTGCCAGGAATTCTGAACACCGGCCTTTGGGGTTGGTGTGTACGTCACTCACCCCACAATGGCACATCTAACGAAAGGCAACTGCCGAGAGGCCTCTGGTAACAGCGTCTGCGCGCTGGAGGCGCTGGAAAAGCTGCTGTCAGGGCCACCCACTGTGCTCCAGCTGAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACNNNN
|
pathogenic
| 1,192 |
Does the genetic variant at chromosome 1, position 5866476, impacting gene NPHP4 (nephrocystin 4), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
benign
|
AAAGCGGCTGCCGGCCCTAAGGGGCCTCACGCCAACATGCAGGTCCTGCACCCCACGAGGCGGCAGCACGAAGACACCTTTGGGGTCTGTCTTCAAGAGCGAGAGAGGCGGGTCAGAGCACAGCCTCTCAGGATGTGCAAGCAAGGGGCTCCTGGGCGCCTGCAGCCCAATCAGCCAGGGGAGCCCAAGGTCATGGGTGGTTCCGGGGCGGCCAAATCTGAGGCCACAACCAACCCTGACATGACTGTGGCCGCGACTTGGGTCCACACCAGGCAAGTCCCTCCTCTCACACGGCGACTATTCCCTAAGCGCTGCCTCCGCAGACAGAACTGAAGCCATCTTGGGCTTAAAACCCCGGCCAGCTGGTGGCACCAGGGGCCGCCCTCCCACCCCGTCTAACTGTGGCTTCACTAACACCAGAGCTCCTGTCACTGTTCACCTTGCCAGGAATTCTGAACACCGGCCTTTGGGGTTGGTGTGTACGTCACTCACCCCACAATGGCACATCTAACGAAAGGCAACTGCCGAGAGGCCTCTGGTAACAGCGTCTGCGCGCTGGAGGCGCTGGAAAAGCTGCTGTCAGGGCCACCCACTGTGCTCCAGCTGAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACAC
|
AAAGCGGCTGCCGGCCCTAAGGGGCCTCACGCCAACATGCAGGTCCTGCACCCCACGAGGCGGCAGCACGAAGACACCTTTGGGGTCTGTCTTCAAGAGCGAGAGAGGCGGGTCAGAGCACAGCCTCTCAGGATGTGCAAGCAAGGGGCTCCTGGGCGCCTGCAGCCCAATCAGCCAGGGGAGCCCAAGGTCATGGGTGGTTCCGGGGCGGCCAAATCTGAGGCCACAACCAACCCTGACATGACTGTGGCCGCGACTTGGGTCCACACCAGGCAAGTCCCTCCTCTCACACGGCGACTATTCCCTAAGCGCTGCCTCCGCAGACAGAACTGAAGCCATCTTGGGCTTAAAACCCCGGCCAGCTGGTGGCACCAGGGGCCGCCCTCCCACCCCGTCTAACTGTGGCTTCACTAACACCAGAGCTCCTGTCACTGTTCACCTTGCCAGGAATTCTGAACACCGGCCTTTGGGGTTGGTGTGTACGTCACTCACCCCACAATGGCACATCTAACGAAAGGCAACTGCCGAGAGGCCTCTGGTAACAGCGTCTGCGCGCTGGAGGCGCTGGAAAAGCTGCTGTCAGGGCCACCCACTGTGCTCCAGCTGAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCACACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACN
|
benign
| 1,201 |
A mutation at chromosome position 5867081 on chromosome 1 in gene NPHP4 (nephrocystin 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Nephronophthisis', 'Senior-Loken_syndrome_4']
|
GAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAA
|
GAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAGGAGCGTGGGCAGACAGGAGGCTGTGCAGGGAAAGCCCCAGAGGACCAGGCCACAGGAGGCAGAGCTGGGGCCACGCAGGGAAAGCCCCGGAGGACCAGGCCCCAGGAGGCAGAGCTAGGGCCTGGTGGCTCCACCCCTGGCTGCCCATCTCCCACCCACAGCAGAGGCTCTCAGGGCGCAGCAGGGCTGCTTAGGAACCACATGTCAAACAAATGACAAGGCACGCTTTGGCCAAACACACATCCTGGACAAGTGTCCACCCCCAATAGGGGTTCTGAGGCTAAGCCAAGGGCAGCGCCACGCAGGAGACAGGGTGGGGCTGGAGGTCATGCCGGCCTGAGCACGGAAGCCCCTGTTAGCATTTTAGGGCCAAGAGCCTGCTGCTTCACAGTCAAATGGGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAAN
|
pathogenic
| 1,204 |
A mutation at chromosome position 5867799 on chromosome 1 in gene NPHP4 (nephrocystin 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
GGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAATGCACACATATCCGCCCACACATGCACACACACGCACCCACATGCACACAATGCACACATACATGCACACATATCCACCCACATGCATACACATCCACCCACATGCACACACACACACACACACATGCACACCCACATGCATGCATGCATCCATACATGTACACAGATGCACAAATACAAACATGGATGCACATACACACACACCACCCACACATGCACGCACACACACACATGCATGCACACACACATGCACACACTTCACACCTGCACACACTGAGAAGGAGAGAGTGGGGCAGGGCAAGAATGGAAACAAGATCCTTCCAAATATATCTTGCTTTATAGTTTGATTTTTGACTTACTTGTTTTTAATTTTGAAAACTAAAATAAATAGAAGTGTTAATGTATTAAAAATAAACAAATCTAAGCTTCTATCAAGTTGGTGCTGTAATTATCCAGAGAAGAATTCTTTAAGTAAATGTAAATCACAGGACACAAAGGACCTAAAGACAAATGCACCTTCAGAAATCTTGCACTGACAGATAGTGTCTAGCCCTGGTTGGTACTGATGTTTTGAAATATACACGTACATAAAGATGGCCAGTGGTATTGTAGCCAAAGGGATTTGGCCAGTGTGGTCAGCAGATTGGTTATATACAGAGGAAATTAGGCAAATAAGTAAGCCAAATGCGAGCTAGGTTTCTCATGAGCAGAAATGAGA
|
GGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAATGCACACATATCCGCCCACACATGCACACACACGCACCCACATGCACACAATGCACACATACATGCACACATATCCACCCACATGCATACACATCCACCCACATGCACACACACACACACACACATGCACACCCACATGCATGCATGCATCCATACATGTACACAGATGCACAAATACAAACATGGATGCACATACACACACACCACCCACACATGCACGCACACACACACATGCATGCACACACACATGCACACACTTCACACCTGCACACACTGAGAAGGAGAGAGTGGGGCAGGGCAAGAATGGAAACAAGATCCTTCCAAATATATCTTGCTTTATAGTTTGATTTTTGACTTACTTGTTTTTAATTTTGAAAACTAAAATAAATAGAAGTGTTAATGTATTAAAAATAAACAAATCTAAGCTTCTATCAAGTTGGTGCTGTAATTATCCAGAGAAGAATTCTTTAAGTAAATGTAAATCACAGGACACAAAGGACCTAAAGACAAATGCACCTTCAGAAATCTTGCACTGACAGATAGTGTCTAGCCCTGGTTGGTACTGATGTTTTGAAATATACACGTACATAAAGATGGCCAGTGGTATTGTAGCCAAAGGGATTTGGCCAGTGTGGTCAGCAGATTGGTTATATACAGAGGAAATTAGGCAAATAAGTAAGCCAAATGCGAGCTAGGTTTCTCATGAGCAGAAATGAGANNNN
|
pathogenic
| 1,210 |
Does the genetic variant at chromosome 1, position 5867842, impacting gene NPHP4 (nephrocystin 4), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
TGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCACAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAATGCACACATATCCGCCCACACATGCACACACACGCACCCACATGCACACAATGCACACATACATGCACACATATCCACCCACATGCATACACATCCACCCACATGCACACACACACACACACACATGCACACCCACATGCATGCATGCATCCATACATGTACACAGATGCACAAATACAAACATGGATGCACATACACACACACCACCCACACATGCACGCACACACACACATGCATGCACACACACATGCACACACTTCACACCTGCACACACTGAGAAGGAGAGAGTGGGGCAGGGCAAGAATGGAAACAAGATCCTTCCAAATATATCTTGCTTTATAGTTTGATTTTTGACTTACTTGTTTTTAATTTTGAAAACTAAAATAAATAGAAGTGTTAATGTATTAAAAATAAACAAATCTAAGCTTCTATCAAGTTGGTGCTGTAATTATCCAGAGAAGAATTCTTTAAGTAAATGTAAATCACAGGACACAAAGGACCTAAAGACAAATGCACCTTCAGAAATCTTGCACTGACAGATAGTGTCTAGCCCTGGTTGGTACTGATGTTTTGAAATATACACGTACATAAAGATGGCCAGTGGTATTGTAGCCAAAGGGATTTGGCCAGTGTGGTCAGCAGATTGGTTATATACAGAGGAAATTAGGCAAATAAGTAAGCCAAATGCGAGCTAGGTTTCTCATGAGCAGAAATGAGAATTACAAACATGGAAAAAAACAGGAAGAAACCCGTGATGTTAA
|
TGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACAGAGGCTGACTGGTGTCTCTCCTTGGTGGCAGGAGCTGCATCCCAAGTCCCTCAGGCTGCACGTGCCCCTCCAAGGTGCCTTCCCTAGACCCCTGCGGGCCCTGAACTCGCAGCAGAATCCCGCCTCACAAAGCGAAGGCCCGAAAGCTCCCCCAATTTTAGGAAGGGGCCAAGCCCACTTTCAATCCACCAGCAGCCCCAGGCCTGCCTCCTCCTCTCCTCCGCCACCGCCTCCAGGTCCCCAAAGCCTGTGCACTTACGAGTAAATGATGACAAAGAAGTCTTTGATCTCCGGGCTTGGACCACTGGCCACCTTCAGAAATATGTCCCGTGGTTCCCCGGGGCCCTGCCAACCAGATGTGCAGCACATCAGGGCACACAGTGCTCTGCCGACCCCAGCCTGGCCCCTAAATCTGTGACTAATACACGCAGCGAGTGACGGCCAGTCCCTCCCAGAACGCATCTGTTCATGTTCTATACCAATCGGAATTCACTATTCTGTTCACTGCCAAAGAGAAGATCATTAGCTTCCTGATTTTACATGGATCTCAACAATTAGATTCTACAGGAGATTTTATCCGGTTTCCTAACTGGTCATAACACAATTATTGCCTTATCCTTTACATAATGGTAATTAATAAGTGCCTTAATTACCATCCACTTTATTAACTTTGCTTCGTGCCTTTTTAAAATTTAAATTCAGATGATCAAGGAGCTGATCTGCTAGTAGAAAAAATAAAAACACACTCATAAAGCTCTCATAAGGATGTCAAAATAGCCCTTTAGTACCTTGGGAAAGAAACCACTTAGCAGAAAACCTAAAATGAAGAGGATCCCAGGATACCCGTGGGGAAGCCGACAGGGGCGCAGACTCACTGGGAAGGATCTGCCTGAGCTGGGGCCACAACACAACCTACCACATTCTGGGTCTCACAGATGACGTTCGGGTCGCTGCAGCGAACATGGACTGGGGGGTCCTCACCAAGCATTCCCACCGGAGCACCTGGAGCAGGGGAAATGTCAAAAAGAGTCTTCTCCACAGCCCCAGCCTGTGTGGAGAAGGCCCCACACATTACACACTATAGGACAGGACAGGCTCGTCACAGGTGCTCAGCAAGACACCTGCTGGGGAAACGGACGCCGCCACCTTTCCCAGGACAGCATCCAAGCACTGTGTTCCCTGCATGGACACCGCCCATCCAGCCCACTGCGGCTCGGCTGCAGCCATCTCCACAGGGAATAATCGAGGGGGCCACAAAAAAGAAAACACAGCTCCCTGGAGCAGGGAAGCCTGCACTCTGCTGTAAGGGGCACCTACCAGAAACACGCGGGCCGTCAGGTGAGGAGGTAGGTGTTCCTCCAGGCACACCTGGACCTGGGCCGCGGGAGCTGGGATTTTTTAGAAGGGCAGACTCAGCCGGCAAATGCGCACCTAGTCATCTCAGAGGTGGCAAGAGGGACACCGTTTCAAACCATAAAGGCAGGAGAGAGAATTCCCCAGGCCCCACGTGCTGCTCTGACAGCACCAGGGCATGAAGCCATGAGGCCATCTGTCACCCTCAAGAGGTATCTACTTCCAACAGGTGAGCCTGCAACATGTGGGCTGCAGGGTCAGTGCAGGACCTGCCTGGAAATGTGTGCCAGGGCGGCAGGCGGATGGCCTTCTTCAGGAAGGAGAGCTCCGGGTGATAGAAGCGGAAGACCTGGTCCACCACGTGGGGCTGCAGCTCCAGTCAGGCAGAGCACGGCGATGGGCTTGCCACCACTCGCTCGGAACAAGACCTGTGAGGAGGCCACGCTGAGTGTTGGGATGGGCACGAGGCTTGTGAGCAGCTTCTTGTCCCTCCTTAGACAGCACACGTATCTCCACTGTTGCCAAGACCCCCTCACCCTCCACTGCCATGAGCGGGGAAGGTCGGGCATCGTCAAAGGCAGGGACTGAGTCTGCAGCAGCAGGTCTCCACCAGGAGGGGACCGCTAAGCAAGGTCTGGGCCGGCACCCACACAGGGCACCCAAGCAGCCACACTGCCATTATTCCTCGCGAGTACAGCACACTTCTTAAATGCCAGTGGAGAAGGTCTGCAGTCCCAAGTCAAAACTACTCCTGCCATGATCCCACCTCCCGACACCCTGTGTGCATGTGCGCAAGTCAGGCCAGGAGGTCCTGGAGTGGGTGGTGGCAGGGCCAAGTTCGCGGTCAAGCACGTCAGCACAAGCTCTTTGATTCCAGATGGCAAAAAGAGGCTGTGCCTAAACCAAAGGGGTTAGAAATAGAAACTTTCCTGGTTTCAAAAGAGCTACTCATTAAAAACCATATTGTCTGAAGAGGTATTAATTGGGACAACTGATAAAAAGGCTATATTTGTTTCAAGATACACACAACCACAGAGACATGCATACTCACACACACGCACCCACACACACGCATGCACTCATGCACCCACACATGCACCCATACACATACACATACATGCACACCCACATGCATGCAGGCACACGTGCACACACATGCAAACATGCACCCATGCATGCACACACGCATCCAGCCACAAATGCACACACATGCATGTACACATATACATGCACGCATGCCCCACACACACACATGCACGCCCACATGCATGCACCCACACATGTACACATATGCATGCACCCACATGCACACACGCACACAATGCACACATACATGCACACACATCCACCCACACATGCACACACGCACCCACACACGCATGCACACACATACATGCACACATGCCCCCACACGCACACATATGCACGCCCACATGCATGCACCCACACATGTACACACATGCATGCACCCACATGCACACACACACAATGCACACACACATGCACACACATCCACCCACACATGCACACACACGCACCCATACACACACACATGCACACACATACATGCACACATGCCCCCACACGCACACACATGCATGCCCACATGCATGCACCCACACATGCACACATGCATGCACCCACATGCACACACGCACAATGCACACATATCCGCCCACACATGCACACACACGCACCCACATGCACACAATGCACACATACATGCACACATATCCACCCACATGCATACACATCCACCCACATGCACACACACACACACACACATGCACACCCACATGCATGCATGCATCCATACATGTACACAGATGCACAAATACAAACATGGATGCACATACACACACACCACCCACACATGCACGCACACACACACATGCATGCACACACACATGCACACACTTCACACCTGCACACACTGAGAAGGAGAGAGTGGGGCAGGGCAAGAATGGAAACAAGATCCTTCCAAATATATCTTGCTTTATAGTTTGATTTTTGACTTACTTGTTTTTAATTTTGAAAACTAAAATAAATAGAAGTGTTAATGTATTAAAAATAAACAAATCTAAGCTTCTATCAAGTTGGTGCTGTAATTATCCAGAGAAGAATTCTTTAAGTAAATGTAAATCACAGGACACAAAGGACCTAAAGACAAATGCACCTTCAGAAATCTTGCACTGACAGATAGTGTCTAGCCCTGGTTGGTACTGATGTTTTGAAATATACACGTACATAAAGATGGCCAGTGGTATTGTAGCCAAAGGGATTTGGCCAGTGTGGTCAGCAGATTGGTTATATACAGAGGAAATTAGGCAAATAAGTAAGCCAAATGCGAGCTAGGTTTCTCATGAGCAGAAATGAGAATTACAAACATGGAAAAAAACAGGAAGAAACCCGTGATGTTAANN
|
pathogenic
| 1,211 |
Is the chromosome 1, position 5873294 variant in NPHP4 (nephrocystin 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Nephronophthisis']
|
TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACAC
|
TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACAACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACA
|
pathogenic
| 1,216 |
Assess the variant on chromosome 1, position 5873294, impacting NPHP4 (nephrocystin 4): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['NPHP4-related_disorder', 'Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACAC
|
TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACCGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACN
|
pathogenic
| 1,217 |
Does the chromosome 1 mutation at position 5873344 within gene NPHP4 (nephrocystin 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
GGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCC
|
GGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGAGCCTCAGCTGGATGCGAGTGAGGGAGACACGGGTGATGGCATCAGGCCATCAGCACCTGAGCACGGTGACAGCCAGCATGGCCTCTGTGGGTGGCCTTCATGGACAACGTGGTCTGCCCACTGAGCAACTCCAGAGGCGGAGCACCCCAGGACAGCGGGTCCTGATCCAAACGCACCAGTGGTAGAAAGGCCCGTGGTTACAGCCCCAGCAGACGATGCCGAGGTCTGCGTTGACTGGGGGCAGCAACAACAGCATGCAGTCATGATAAAAAGAAAAGTCCTTATCAGTCAGAGATACACACTGCAGTAATTATGGGTAAACTAACACAGTGTCTAGGATTTCCCTTCAAACTCCAAATTCATGTGAAGAGATCATATTTCTGACGTAAAGATTATTTTAAGGTGAAAAGAAATCTTACCTGAACTTTCCTTATCTGACTAGTGCACAGCCACCTGAAAGTGCAGCTGCCATTAAACCCCTATGTGAAAGTGTAAGTGAAAGCATCCTGCAAATTCCAGGAAGGTCACAGACTGGCCATGCTCACAGCATAAAGAGACAACAGAATGTCCCCGTCTTCCCACGGAGGCCCTGGCCCTCGCCCCCTTTGTGCTACATTGGCACAGAAACCTCGACCTCTGGGCATTTGGCAAGCTACTCACTTCCCAATGCTGCCACGGGCTCACAACGGTAAGGCCCGTCTTTGCTGCTGTCCCTCTGTCTACGGTCATCCACCTGCAGCCCTTACCATTCAGACCTGAGCTAGCAGAGGAAAACCTTCCTCCCAACGGTTTTGGCAACAGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCN
|
benign
| 1,219 |
Variant chromosome 1, position 5874463, gene NPHP4 (nephrocystin 4): benign or pathogenic? Disease(s)?
|
benign
|
AGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGC
|
AGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAG
|
benign
| 1,224 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 5874553, gene NPHP4 (nephrocystin 4). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
GGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCA
|
GGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAN
|
pathogenic
| 1,225 |
Is the chromosome 1, position 5874618 variant in NPHP4 (nephrocystin 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
GACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTT
|
GACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTN
|
pathogenic
| 1,228 |
Is the genetic variant on chromosome 1, position 5874860, gene NPHP4 (nephrocystin 4), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
CCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAG
|
CCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGNNN
|
benign
| 1,235 |
Does the chromosome 1 mutation at position 5874973 within gene NPHP4 (nephrocystin 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Nephronophthisis']
|
AATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGCTCTCCAGATAATTCTCACTTAAAGATTTCCCCCGGTGGCTGAAAAAGTCCGATTTTCTTATATTCTGTCCCCAGGATTTGGGAGGAAGGTAAGAGAGAATCATGTGGGAGGC
|
AATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGCTCTCCAGATAATTCTCACTTAAAGATTTCCCCCGGTGGCTGAAAAAGTCCGATTTTCTTATATTCTGTCCCCAGGATTTGGGAGGAAGGTAAGAGAGAATCATGTGG
|
pathogenic
| 1,238 |
Variant at chromosome 1, position 5875009, gene NPHP4 (nephrocystin 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
TGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGCTCTCCAGATAATTCTCACTTAAAGATTTCCCCCGGTGGCTGAAAAAGTCCGATTTTCTTATATTCTGTCCCCAGGATTTGGGAGGAAGGTAAGAGAGAATCATGTGGGAGGCAGGGAAAGGATGTGCACAGTGACTCAGTCTGCATGG
|
TGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGCTCTCCAGATAATTCTCACTTAAAGATTTCCCCCGGTGGCTGAAAAAGTCCGATTTTCTTATATTCTGTCCCCAGGATTTGGGAGGAAGGTAAGAGAGAATCATGTGGGAGGCAGGGAAAGGATGTGCACAGTGACTCAGTCTGCATG
|
pathogenic
| 1,240 |
Does the chromosome 1 mutation at position 5904752 within gene NPHP4 (nephrocystin 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
ACATAGGCATTTAAAACTGTAAATTCCCCTGTAATTACAATTTTACTTGCATCTCCTAAGTTTTGATATGCAATATTATTTTGTCATTCAGTTTTAAATAATTACGCATTTCTATTTTGAGGTCTTCATTGACTCATGGAATAATTAGAAGCACATTTTAAAATTAAAAAAATAAAAGCAGTTCAGAGTGGTTGTAGGGGAGGGAGTGACTGACTTCTGATCTTGTGGCATTATGGCCAGAGAAAGTTATAAAATTAGATTTGATACCGATTCTCTCAGTATAGGGTGATGCCTGCTTGGTGAGCTAAAAAATATATATGAATGATGATCAGTTTTTCTAAGTTTCAAAGTATGCTTTAAAATAATGCATATTCTCTAAACGGGATGTACAGGTTTTCTCAGATCACCTTTTTAAACTGTATTTTATAATATCCTTATTAACTTGTTTCTGTTTGATCAATCTACTGAGAAGTATGTCTAGAACTCCCATGATTGTGGAGGTTTGCCAATTTCTCCTTATAAGTCCATCAAGTTCTCCTCTCTATCTTGAGGCTACGTATGTTAGAAGATCGCGGATTCAGAACTGTTTCTTTTCCTAGTGAATTACTTTCTTGGTTATTGTTTACCAGCCTCCTTGATCCCTAGCGCTGCATTTGCTTTGTGTCTCTGCTGTCAGGTGCCACTGTTAGGCTACTTCATTTGAGGTCAGCATTTTAACATCACTTTTCCCATCTGCCACTTTCTACCTCGAGAGGCGGCAGTGTTTCAGACCCCAGCTGGGTCCCTTATGAGCTGAGTCACTGACCAAGATGGGGAAACTGACCATCAATAAAAATATCAACATGTCAGGTGTGTTTCTATTCAATGTAGCTTCAATCTATTCGTTTACAATGATACCCGAAGAAAAAAAAAGTCATTAGTCCCCATCCTTGAAGGATGCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATA
|
ACATAGGCATTTAAAACTGTAAATTCCCCTGTAATTACAATTTTACTTGCATCTCCTAAGTTTTGATATGCAATATTATTTTGTCATTCAGTTTTAAATAATTACGCATTTCTATTTTGAGGTCTTCATTGACTCATGGAATAATTAGAAGCACATTTTAAAATTAAAAAAATAAAAGCAGTTCAGAGTGGTTGTAGGGGAGGGAGTGACTGACTTCTGATCTTGTGGCATTATGGCCAGAGAAAGTTATAAAATTAGATTTGATACCGATTCTCTCAGTATAGGGTGATGCCTGCTTGGTGAGCTAAAAAATATATATGAATGATGATCAGTTTTTCTAAGTTTCAAAGTATGCTTTAAAATAATGCATATTCTCTAAACGGGATGTACAGGTTTTCTCAGATCACCTTTTTAAACTGTATTTTATAATATCCTTATTAACTTGTTTCTGTTTGATCAATCTACTGAGAAGTATGTCTAGAACTCCCATGATTGTGGAGGTTTGCCAATTTCTCCTTATAAGTCCATCAAGTTCTCCTCTCTATCTTGAGGCTACGTATGTTAGAAGATCGCGGATTCAGAACTGTTTCTTTTCCTAGTGAATTACTTTCTTGGTTATTGTTTACCAGCCTCCTTGATCCCTAGCGCTGCATTTGCTTTGTGTCTCTGCTGTCAGGTGCCACTGTTAGGCTACTTCATTTGAGGTCAGCATTTTAACATCACTTTTCCCATCTGCCACTTTCTACCTCGAGAGGCGGCAGTGTTTCAGACCCCAGCTGGGTCCCTTATGAGCTGAGTCACTGACCAAGATGGGGAAACTGACCATCAATAAAAATATCAACATGTCAGGTGTGTTTCTATTCAATGTAGCTTCAATCTATTCGTTTACAATGATACCCGAAGAAAAAAAAAGTCATTAGTCCCCATCCTTGAAGGATGCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAN
|
pathogenic
| 1,267 |
Chromosome 1, position 5905354, gene NPHP4 (nephrocystin 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
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pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
ATTACTTTCTTGGTTATTGTTTACCAGCCTCCTTGATCCCTAGCGCTGCATTTGCTTTGTGTCTCTGCTGTCAGGTGCCACTGTTAGGCTACTTCATTTGAGGTCAGCATTTTAACATCACTTTTCCCATCTGCCACTTTCTACCTCGAGAGGCGGCAGTGTTTCAGACCCCAGCTGGGTCCCTTATGAGCTGAGTCACTGACCAAGATGGGGAAACTGACCATCAATAAAAATATCAACATGTCAGGTGTGTTTCTATTCAATGTAGCTTCAATCTATTCGTTTACAATGATACCCGAAGAAAAAAAAAGTCATTAGTCCCCATCCTTGAAGGATGCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGCCATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTT
|
ATTACTTTCTTGGTTATTGTTTACCAGCCTCCTTGATCCCTAGCGCTGCATTTGCTTTGTGTCTCTGCTGTCAGGTGCCACTGTTAGGCTACTTCATTTGAGGTCAGCATTTTAACATCACTTTTCCCATCTGCCACTTTCTACCTCGAGAGGCGGCAGTGTTTCAGACCCCAGCTGGGTCCCTTATGAGCTGAGTCACTGACCAAGATGGGGAAACTGACCATCAATAAAAATATCAACATGTCAGGTGTGTTTCTATTCAATGTAGCTTCAATCTATTCGTTTACAATGATACCCGAAGAAAAAAAAAGTCATTAGTCCCCATCCTTGAAGGATGCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGCCATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTTNNNN
|
pathogenic
| 1,271 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 5905690, gene NPHP4 (nephrocystin 4): what disease(s) if pathogenic?
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
GCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGCCATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTTCCTTTATTTAATGACAGAGAGGTGATTCCATGATCTCCCCCAGATCATAATATCTGAATAAGAATATTATTAACAAGGAAAACAAGCAAGAAAGGAGAAAGCATCTCAAGCTACAGGGGCGGCCTGGCCTCTGCCTCTCTGTCCCTTGCCAGCACTGGACTGAGCACCTCCAAGGCCCTGCCAGTTCTAGCCGCCTGCGTTCCTATCGAACAAACCTCCCTGTTAAGGCAATGACCATCTTGATGGCCAGCGCGGGCTCTGGAGACAGCTGTGGATAGAGTGCCCGTGCCAACGTGGCATTACCGTGGAGTGCCCGCACCAATGTGGCATTACTGT
|
GCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAAAAAAAGCATCTAATCATGCATCTAGATCTAACTCCCAATTTACAGCTAAAGAGGGGACAGAACAACACCTTTATGTTACCACCAGGATACAAAAACAGAATCCAGACTGTGGGGTGGACGCTCTACAGTACAATGTGGCTTCTTCAATAAATACATAAAAAAGAAACAACAGAGACAGGTACGGTGGCAGCAACTGCAGACAGAGACTGAAGAGTCACACTGCTCCATGACCAGTATGGACCTTATTTCTGGACAAACTTAAAAAAATGTTATGAGGTTACTAGCAAAATTTTAACATTGGCTAGATATTTGATGATATTAGGAGTTATTATTTTAGATGGGCTATACCCCTTAAGTTTATGTTTTTCAAATGAGAATTCCTAATTTTTTAGATATACATAAGGAAATATTCATACATGAAATTATATAATGTCTGGGATTTGCTTCAAAATAACCCTGGCTTGGGGGAGGACGCTGGGTTGGGAGGCAGCTGAGAGCTGCTGGGGCTAAGTGTTTGCTGCACTGGTCACCGTATGATTCTAATGTTGCATATGTTTTAAACTTTTCATAGTACCACTTATTTAATAACACTGACAATTTACACACACAACTCAGTACAGAATGTCTTGCCTTTGCCATGCACATGAGTACTCACCAGCATCAAAGGTGCCATCTCTGCTCACAGGCACGAGGATGTGGGTCAGGGCGCCAGAGCTGGGCTGGCCGGCCTCATCCAGCTGGACCAGCTGCAGTCGTGGCGTCGTTGCGGGTGGGAAGCGGTAGAACTGGAAGGTGAAATACACAGTCTTTGGCCATGATGTTCCTCGGCAGTCCTGGGCCACTCTGAATCCAACAACAGCTCTGGGTTAACTGAGTATCCATGGCACAGAACCTGAGGGGTCTAATGTGTGTTTGCATAGGGGATGGTCCAGGCACCTTAGTCGCTGGGGAACAGTAAAGAGGCTGCCGTGGTCACCAATGCAACCGCTTTGCTGTGCTCTCAGCAAGCCGGCCAGACAGCAGCATTCTCGAGTGTAAGGACACTCCCGGCTAGAGAAGCTGCCTTTGGAGCTACACTAAGATCTAAGACCTGGACAACCCACCGTCCACATTTTAATGAAGGACCACAAAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGCCATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTTCCTTTATTTAATGACAGAGAGGTGATTCCATGATCTCCCCCAGATCATAATATCTGAATAAGAATATTATTAACAAGGAAAACAAGCAAGAAAGGAGAAAGCATCTCAAGCTACAGGGGCGGCCTGGCCTCTGCCTCTCTGTCCCTTGCCAGCACTGGACTGAGCACCTCCAAGGCCCTGCCAGTTCTAGCCGCCTGCGTTCCTATCGAACAAACCTCCCTGTTAAGGCAATGACCATCTTGATGGCCAGCGCGGGCTCTGGAGACAGCTGTGGATAGAGTGCCCGTGCCAACGTGGCATTACCGTGGAGTGCCCGCACCAATGTGGCATTACTGTNNNNNNNNNNNNN
|
pathogenic
| 1,277 |
Variant at chromosome 1, position 5907139, gene NPHP4 (nephrocystin 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
AAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGCCATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTTCCTTTATTTAATGACAGAGAGGTGATTCCATGATCTCCCCCAGATCATAATATCTGAATAAGAATATTATTAACAAGGAAAACAAGCAAGAAAGGAGAAAGCATCTCAAGCTACAGGGGCGGCCTGGCCTCTGCCTCTCTGTCCCTTGCCAGCACTGGACTGAGCACCTCCAAGGCCCTGCCAGTTCTAGCCGCCTGCGTTCCTATCGAACAAACCTCCCTGTTAAGGCAATGACCATCTTGATGGCCAGCGCGGGCTCTGGAGACAGCTGTGGATAGAGTGCCCGTGCCAACGTGGCATTACCGTGGAGTGCCCGCACCAATGTGGCATTACTGTGTAGCCTCAGGCAAGTCAGCTAACCTCTTTTTGCCTCAGTCTCCTCACCTGTAAAATGGGGGTAATAATAGTACCTAAACTGCAGGACTGTTAGGAGAATTAAATGACAATCCTGGCTAGGGTTTGGCATAGTACCTGGCACACGGTGAGCCTTCTATAAATACTGCAGATATTTGGAAATGAGTGCGGCTTAAAACACTGATGCGGAGGGCTGGGGGCCCACGCACTACTGAAGACACAGATCTCAAACCCGGACTCTAACTCCAGTACACACAGCCAGCACCTGAGACATTCACTGTCAGCAATGATGGCTGGCCCACACCAGGTGCTGGCAGAGAGGCCCCAATGTATGAAGAGGCACTGAGGAATGAATGGGGGGCGGGGTGCATGAAGCATCCCCAGGGGACCCTGGCAGCATCTTCAGGGAGCAGAGGAGATCTTTGGGGCCTACCCAGCTTCCCTCAGACCCTATACGGTATCGTGACCACTCGGGGTCACGTGGAAACTGCTCCAGGGAAAATGCCAGGTTGGGCCAGCAGGGAAGCCTGGGAGGCCGTCCACAGACTTGCGCCTTTAGGTGAATCCAGTATTCTTCACTCCTGATCCAGTTTCCCACTGCAGATGACACACTAAAGCTGCTTCCTTGGAGACAGCCATGGATACTGAATTAGTCAACTTTTCTAGAAAGTCAATTTCCAGGATGATGCTGGCAGACAAAGTCATCAGCAGGAACAAGCCACATCTGACCTCACTGCAAATCACATAGCTAAGGCCAGCCTTGGAGCCACAGGTGAGCGCCACGGGTGTCTCGGGACTCCAGAACGGCAGCCAAGCAGGAGCTCAGCTCAGACCGCTGGCGGGCAACGGCCCAGCGGGAAGGCGCCTCTCCTCCCACTCAGGAAGTTCCAGCGCCACGGGGATCTGTGCGGTCGGACGTGCAACTGCCAGCAGCTTGTGGTTCTCAGCAGTGCCACTGTCTCCACCAGCATCGGCTGCTTGGCCGACAGGGCCAGGGGACACCAATAGCTGCCAGGCACCGCTACTGGTGGAGTTAGTCTGGGAGAGCAAAGAGGGTGAGGACCACACCTCGATGTCTCTCAGAAAAAGCAAAGGCCGTCCAGTCCTGAGAGTTGCCACCATGAGATGCAGCTGCCAGGGAGATGTGGAGACGCCCCATACAGCAGCATAGGGGTTGCAAGCAGCAGCCCCACTAAAAGCCCGCACTGGGAGTCAGAACATCAGGGACAGGCTGCACAGACAGGGTAGGAGGGGACAGCCCCGCCGCCGCCAGCAGGCCCTCCCCAGCCACGCAGAAGCACGCAGGGATCCACTGTGCTTAAGGGGGGACAGAGGGTTTTCTTGCAAGTAATTGACTCTGGAATTCTGAAGGAGGCCGTGGGGGGCCTGGACTTACCCCTGGTCCCACAGGTGAGTTCTGCGGGGCAGCGA
|
AAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATTGGCATCCAGAATCTCGGGAAAGCCGGAGGACTGCAGGAGCACCATGGAGGCTCTCGAGGGCTGCCCTGCAGAGCTGAGACACAGAGACTCCTCAGGTAGCCTCCCGGGAAAGGGGGGACCCATTGATGCACCTCCCTGTGGAAACCCTGGGGTTCACAAGGTCCAACAGTCTGACGGCACAGCACGTGACTGGTTCCATCCCACCCAGACCCACACCTCACCTCCTGGTCTGGGTTCCCACAACAATAGGGGCATGCAAAGGCGTGAACGGCAGCTCCTGTAACTGTTCGGCAATGGATGTTTCCAGGACCAGGGAGGTCTGGCTCAGGTCGGCTTCCAGGTGGGAGATACCGGCCTCCAACGGGAACTCCTGCTGAACAAAACGAGGGCTTCCAAGTGAGGCCACCAAGGACCCCAACCCGTAACAACCAACGGTGCTCAGATCTAAGGGGATTCATCGATTAATTGCCTCTGGAGGGTTGCCAGCTCTAGCAAATACAAAAGGTTCAATTACACTTGAATTTCAGGTAAACAACAAATGATTTTAGTATAAGTATGGTCCCTACGATATTTGGGATATACTTACACTAAAAAATTATTTGTTGTGTACCTGAGGTTCAAATTTAACTGGGCATCCTATATTTCACGTGGCAATCCAATGTGTGAGTTGAGAAGCGGTGAGGAGGGAATCCTAATTTTATGAGCAGGTCAGGACCGTGGGAGATACCTGACACCTGAGATGGTAAATTCATATCAAAGCATGTTTATAGAACAGAAAGATGAAGCTTCCTCAATACTCCAAGATAAACTGTGGCACCGAGCCCCTGGCTGGCGTGTTTGGACAGTCTCTTGTCCCCACAGCCCCTGAAACTTCTTGTCATTCACTCGTATTCCACCTCCACTCCCCTCCAAGGCCGAGGCAGGCCTCTCAGAGAGGAGCTGGCTTGGGAGTTGGGAATGTGCTCTCTCAAGCTTCATTCCCAAGCTTTCTGTTTCAGCCCAGAGGAAACCAGGTCACCCTCACACCATGTCTCATGCGCCAATAATAAAAAGCTAGGCAAGCTCTTCACAAACACATGAGCCCCAGAGATGCTTTAGATAAAGCAGCAGAGACTCATGGTGCTAGGAGTGTTTTCAAACAAGGAATTAAAAGAAACTATTTTTCCTCAACATAATTCCAGTTAAGACCAAAGATGCAGTTTGCAGGTGAACCAGCCGACTTTGGAAACCAAACTCCATAGGAATTCCCCAAGGCCAGTGGCAATGCCAGTCTTAGCCAGGAGCACACCCTGAAGCCAGGATGGCGGGCTCCACTCACCTCCTTTAGCTGCTGATAGCAAGGAGGGTCCTGGGGTGCTGGGTGCCTGTCTCAGCCTGTCTATAGATATAGCCACACCTTCCTTTTACTTTCACGTAGAGACCTAGGGGTAGCTTAACTTTGTTTTCATGGGTAGAGCACAATCTGAGTCAAGCGCTGTGGTATGAAGAACTCATGGGCCACATTCTTCTTTGGTCTCCAAGACAGAATGGTGACAACTGTCTGAGGCCTCAGAGTAAGCAATGCCCCACTCCCACCCACATCCCAGGTAACCCGCCAAGGTCTCTGCCACCTAACTAAGGACAGGCACAGTGCAAAAACCCAAAATGAGGAGCTGTGGAGCCATTCCTTGGTGGAAGGCAAGGCGGCAGGTGGGCGGCACTTACTGCCTGGGCCGGGGAGGCCTGAGAGATGGGGTAGCTGTGAAGTAGGCCTGGCCAAGCAGTGCTGAGTCGGGGACCGCGGGGAGGCCGCCAGCTGGGAAATTGACAACTGGAAGGAAAGAGAGCACAGGTGAGGGGCTCAGAAGCTTGCCAGTCCGTCCACAAAGCTCCCAACATGCACTGGCCACACCGGGGAACGGGGTAGCCCTGGATCCAGCCACGGAAGGGAGTGATGCCTGCAGCCTCCTGGCCAGGGCAGCTCTGGAACCTGGGACCGCTTCTCAAGTTCCTTTATTTAATGACAGAGAGGTGATTCCATGATCTCCCCCAGATCATAATATCTGAATAAGAATATTATTAACAAGGAAAACAAGCAAGAAAGGAGAAAGCATCTCAAGCTACAGGGGCGGCCTGGCCTCTGCCTCTCTGTCCCTTGCCAGCACTGGACTGAGCACCTCCAAGGCCCTGCCAGTTCTAGCCGCCTGCGTTCCTATCGAACAAACCTCCCTGTTAAGGCAATGACCATCTTGATGGCCAGCGCGGGCTCTGGAGACAGCTGTGGATAGAGTGCCCGTGCCAACGTGGCATTACCGTGGAGTGCCCGCACCAATGTGGCATTACTGTGTAGCCTCAGGCAAGTCAGCTAACCTCTTTTTGCCTCAGTCTCCTCACCTGTAAAATGGGGGTAATAATAGTACCTAAACTGCAGGACTGTTAGGAGAATTAAATGACAATCCTGGCTAGGGTTTGGCATAGTACCTGGCACACGGTGAGCCTTCTATAAATACTGCAGATATTTGGAAATGAGTGCGGCTTAAAACACTGATGCGGAGGGCTGGGGGCCCACGCACTACTGAAGACACAGATCTCAAACCCGGACTCTAACTCCAGTACACACAGCCAGCACCTGAGACATTCACTGTCAGCAATGATGGCTGGCCCACACCAGGTGCTGGCAGAGAGGCCCCAATGTATGAAGAGGCACTGAGGAATGAATGGGGGGCGGGGTGCATGAAGCATCCCCAGGGGACCCTGGCAGCATCTTCAGGGAGCAGAGGAGATCTTTGGGGCCTACCCAGCTTCCCTCAGACCCTATACGGTATCGTGACCACTCGGGGTCACGTGGAAACTGCTCCAGGGAAAATGCCAGGTTGGGCCAGCAGGGAAGCCTGGGAGGCCGTCCACAGACTTGCGCCTTTAGGTGAATCCAGTATTCTTCACTCCTGATCCAGTTTCCCACTGCAGATGACACACTAAAGCTGCTTCCTTGGAGACAGCCATGGATACTGAATTAGTCAACTTTTCTAGAAAGTCAATTTCCAGGATGATGCTGGCAGACAAAGTCATCAGCAGGAACAAGCCACATCTGACCTCACTGCAAATCACATAGCTAAGGCCAGCCTTGGAGCCACAGGTGAGCGCCACGGGTGTCTCGGGACTCCAGAACGGCAGCCAAGCAGGAGCTCAGCTCAGACCGCTGGCGGGCAACGGCCCAGCGGGAAGGCGCCTCTCCTCCCACTCAGGAAGTTCCAGCGCCACGGGGATCTGTGCGGTCGGACGTGCAACTGCCAGCAGCTTGTGGTTCTCAGCAGTGCCACTGTCTCCACCAGCATCGGCTGCTTGGCCGACAGGGCCAGGGGACACCAATAGCTGCCAGGCACCGCTACTGGTGGAGTTAGTCTGGGAGAGCAAAGAGGGTGAGGACCACACCTCGATGTCTCTCAGAAAAAGCAAAGGCCGTCCAGTCCTGAGAGTTGCCACCATGAGATGCAGCTGCCAGGGAGATGTGGAGACGCCCCATACAGCAGCATAGGGGTTGCAAGCAGCAGCCCCACTAAAAGCCCGCACTGGGAGTCAGAACATCAGGGACAGGCTGCACAGACAGGGTAGGAGGGGACAGCCCCGCCGCCGCCAGCAGGCCCTCCCCAGCCACGCAGAAGCACGCAGGGATCCACTGTGCTTAAGGGGGGACAGAGGGTTTTCTTGCAAGTAATTGACTCTGGAATTCTGAAGGAGGCCGTGGGGGGCCTGGACTTACCCCTGGTCCCACAGGTGAGTTCTGCGGGGCAGCGANN
|
pathogenic
| 1,282 |
Gene NPHP4 (nephrocystin 4) variant at chromosome position 5927667 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
TTTGTTTTGTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCGCCCGCCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAACGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGGAATGGGTTGTTTTAAATGATCCTTTATTATGACCCTTTGTTTAGTTTTTTGAAATTATGTGTCCTATGCCTTGAATGCATTCAATTTTATCAAATGAAATTGGAAATTCATTCTAAACCGACTCTGACAGGAAATGCATGCATGCCTACCACCCACCACCACAAGGGATTCTAGTACAAGGGGGACTGTACATTTCAGTGCCGTTTATAAAGATGGGATTATTAATGTACACACTGGTGGTAAACAGAAATCTTGAGAACAAGCTGTTAGGCACAAAATTCAAACACTGAAAAAACAAAACAATTAAAACCATCAAATGCATCACCTCTATGAAAAGAAGGAAAATACTTAATGATGTAGTTTGTCCCAAAGAAATCAACTATTAAGTTTTGGTACCGGAATATTCTTAGATAGCTCAGAGAATCCTGAAAGACCATGTTTATTATGTATTACTATTGTACTTTTAAGTAACTTAATCAAAAATCAGAGTACAGAGTAGGTCCATGGTTTCTGCATCCATGAATTCAACCAGACTTGGGCTGAAAATATTTTTTTTTAAATGTGTCTGCACTGAACACGTACAGACTCTTTTTTTCTTGTCATTACTCCCTAAACAGTACAATTTACATAGCATTTGCACTGTATTAGGTATCTCAGAAAATCATCAACTTCATCAAATTCATCAACTTAGAAATGCATGTGCTGCTTCCACCAACTGTAAAATCAAATTCAACAAGACCAGTTCCCATAAATTAGAATCTCAATCCATGAAGAAAACCCCTCCTGAGTGATGGAAGCACCAGCAGCTTTGTAGCAGGACTTGGGGCCATAGCCGAGCACAGAAAGCAACTCCTCCCTCGACACCCGGGCATCACCAGCTGGAGCCCAGAGGAACACAAAGCTCCCTCCCGGGCTTGCACGTTTGCTCATTCCCTATCTTGCCATCTGGAACAGGCAGAAAGAAGGAAGTCATCACCTGCGACTAGGGATCCTAGAACCTTCAGTGGTGAGAGCTCCAGACGCCTAGAGCCAAGGCCCCATACTCATTCAGGTGGACTACTCCAACACTCCCTCGTACCTTCCGCCCCTCACTTCAGTATAGGTGGAATTCTCAACCAGGACATGGGTCTAAACCAAGAGGCTCTGAGCACAGGGTACTGCCTCAGCAGAAGCAGCTAGGCTGACGGCCAATAAGAACTCTTTAACCTCCTAACCATGTGGACTTGCTGCCACCCACAGGGCCAGGACTCTACCTCTGCTGGCAGCCCTTGCTGCTTGTAGCCAATTGTGACTCCTTTTCTTAAAGCCACAGACTCAGATCACACACTCCTAACTTTCGGGCAGGGCTTCAAGGTGAGTAGACAGACGGCTACTTCAACAGTGCAAACGCAAGGTGGCGGTCCTCGGCTCTCGACCACCCTCTAACTCTCGGGTCCCACATTTGCAGGGCATCCATGTGACGTGTCCTTTTAAATGCTTAGTTGGGGAGCTGTCAAGTAACTGAGCTGACTCTGGGCTGAAGCACAAGCTTCTGGGCCACACTTCATCACTGTCCAATTCTACACCTTGGTATTAAGCAAAAACCCAACTAACAGATTCCATTAATGCAATCTACGACGATTATCTTACAAATGTGGTGATTACCGTACTAGACTAAGTACCTTTCCCCGGGAAGAGATGGAAGTGCTGCCTGCCATGTGCCTGGCCAGTCAGCTCTCTGGAAACACTTACTCGAAGGGGACGTGGGTGGTTTCCTGGAAGGCCGCCGCTCCACTTTGGGGCCACTGACAGGCTCCGTGGGTGCATCCAGGTGTTCTTCTGAGCCCAGCGAGAACTGGAACCGGAGTGTACCCGACTCCACCTGCTTCACCTGCAATGGACCAGAAGAGCAGTGATGGCCACTCCCTTCATCAGCACGCCTATCAGAACGATCCAACCAGGAACAGCAGGCTCTGCCCTAAAACAAAGTCTACGTGAAATCAGAGGCTTCTTGATGCCACATGTTCTCAGATTATAATCAAGTAGTTTGAGCAAAAAGCAATTGGTGTGGCATTAAAAGCCCTGCAGACCATATGATCATGGAATGACCCTTACCCAAGCAGAAATCGCAATCTCTCTCGAGTTGTGAATGTTGTCATTGACCTATGTGAAACTGACATCTTTATTCTGGGTATGGCTCTGTGGGTTTTGGCACATGCACAGATTCACATAACCAGCACCACACCCAGGGTGCAGGCCAGCCCCATCCCCCCAGGGTGCTCCCTTGCCCTGCCCTGCCCCTCTGCAGCCACACCCAGCCCATGCCTAACCCGGGCAATCTATGACTGCTTCCCCAGCACTGTCATTTCGTCTTTTTGAGAATGTCAAAAAAATGTCCAACACATGGAATCACATAATGTATAACTTTTGAGACCAGCTTCTTTCATTTAGCATAAGACTGAGGAGATTCATCCAAGTTGTTACATACACATCAAACTGTTTCTTTTTTTATTACTGAGTGATATTCTATTGTACGGATGTACCAGTTTATTTATCCATTCACTCACAAACATTTGGGTAGTTTCTGGTTTGGGTGATTATAAACAGACCTGCTACAAACACATATGTTTGTGTGAATACAGGTTTCATTTCTCCAAGAGTAGGACTGCTGGGTCATATGGCATATTTAATTTCATAAGGCACTTCCAAACTTTATTTCTGGACTCTCTAGTCTGTTCCATTAACTGAATTCCTTGATACTAATTATATTAATCAGTGTAGCTGTACAGTAAGTGTTTAAACTGTGTAGTATGATTCCTCCAACTTTACTGTTCTTTTTTCAAAACTATTTTGACTCTTCTAATTCCTTTAGCTTTCCATATAAATTTCAGAATCAGCTTGTCTATATCGCCAAAAAAATCCTGCTGAGATTTTGACTGAAACTGCATAAAATCTCTAGATCAATCTTGGGCAGAACTGACAGCTTTACTATGTTGAGTTTCCCAAGACATAAACATGTTACGTCTCTCCAATTATTTAGGTCTTCTTTGATTTCACCTAAGAATAACCACAATGACAACTAGCAAAAGGACAGTTTTATTGTTTTCAGCATACAGATCCCCTAACTATTTTGTTAGATTTAGTTCATGGAGGGCAGGCTTTGTAAACAATACTGTTTCTGTATTTTGCTTTCAATTTTTCAGTGCTAGTATACAGAAATAGGATTGATTTTTCATGTTGACTTCCTGTGTTATCCTGCAACCTCACTAAACCCACTTACTCATTCTAAAAGGACTTTTTTGTAGACTCCTCAGAATCTTTGGCATAGACAATCACGTTTTCTGCAAATAAGGACAGTTTTGTTTCTTCCTTCTAATGTGTAGGTCTTTTGTTTTCTTGACTTACAGCACTGACTACAACTTCCAGTGCAATACTGAACATGACGTTGAATGCTAACAGTGGACATCCTTTACTTGTTCCTAATCTTAGGGGGAAAGCAATCAGTCTTTCACCATTAAGTATGATGTTAACTAAAGAGTTTTTGTAAACATCACTGATTATGCTAAGGAAGTTTTCTTTTATTGCTAGTTTGCTCAGTTTTTAATCATAAACTGATGCTGAATATCGTCAAATGTTTTTTCAGTATCAATTGCCAGGATCATATGGTTTTCCTTCTTTAGGCTGTTACTATAATGAATTACATTTATTGATTTCCAAATAGAAAACAGACTTGCATTCTCTGGATAAAGCTCCACTTGGCTATAGTGTATTATTCTTTTTGCGTATTGCTGGACTCAATCTGCTAATATTTTGTTGAG
|
TTTGTTTTGTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCGCCCGCCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAACGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGGAATGGGTTGTTTTAAATGATCCTTTATTATGACCCTTTGTTTAGTTTTTTGAAATTATGTGTCCTATGCCTTGAATGCATTCAATTTTATCAAATGAAATTGGAAATTCATTCTAAACCGACTCTGACAGGAAATGCATGCATGCCTACCACCCACCACCACAAGGGATTCTAGTACAAGGGGGACTGTACATTTCAGTGCCGTTTATAAAGATGGGATTATTAATGTACACACTGGTGGTAAACAGAAATCTTGAGAACAAGCTGTTAGGCACAAAATTCAAACACTGAAAAAACAAAACAATTAAAACCATCAAATGCATCACCTCTATGAAAAGAAGGAAAATACTTAATGATGTAGTTTGTCCCAAAGAAATCAACTATTAAGTTTTGGTACCGGAATATTCTTAGATAGCTCAGAGAATCCTGAAAGACCATGTTTATTATGTATTACTATTGTACTTTTAAGTAACTTAATCAAAAATCAGAGTACAGAGTAGGTCCATGGTTTCTGCATCCATGAATTCAACCAGACTTGGGCTGAAAATATTTTTTTTTAAATGTGTCTGCACTGAACACGTACAGACTCTTTTTTTCTTGTCATTACTCCCTAAACAGTACAATTTACATAGCATTTGCACTGTATTAGGTATCTCAGAAAATCATCAACTTCATCAAATTCATCAACTTAGAAATGCATGTGCTGCTTCCACCAACTGTAAAATCAAATTCAACAAGACCAGTTCCCATAAATTAGAATCTCAATCCATGAAGAAAACCCCTCCTGAGTGATGGAAGCACCAGCAGCTTTGTAGCAGGACTTGGGGCCATAGCCGAGCACAGAAAGCAACTCCTCCCTCGACACCCGGGCATCACCAGCTGGAGCCCAGAGGAACACAAAGCTCCCTCCCGGGCTTGCACGTTTGCTCATTCCCTATCTTGCCATCTGGAACAGGCAGAAAGAAGGAAGTCATCACCTGCGACTAGGGATCCTAGAACCTTCAGTGGTGAGAGCTCCAGACGCCTAGAGCCAAGGCCCCATACTCATTCAGGTGGACTACTCCAACACTCCCTCGTACCTTCCGCCCCTCACTTCAGTATAGGTGGAATTCTCAACCAGGACATGGGTCTAAACCAAGAGGCTCTGAGCACAGGGTACTGCCTCAGCAGAAGCAGCTAGGCTGACGGCCAATAAGAACTCTTTAACCTCCTAACCATGTGGACTTGCTGCCACCCACAGGGCCAGGACTCTACCTCTGCTGGCAGCCCTTGCTGCTTGTAGCCAATTGTGACTCCTTTTCTTAAAGCCACAGACTCAGATCACACACTCCTAACTTTCGGGCAGGGCTTCAAGGTGAGTAGACAGACGGCTACTTCAACAGTGCAAACGCAAGGTGGCGGTCCTCGGCTCTCGACCACCCTCTAACTCTCGGGTCCCACATTTGCAGGGCATCCATGTGACGTGTCCTTTTAAATGCTTAGTTGGGGAGCTGTCAAGTAACTGAGCTGACTCTGGGCTGAAGCACAAGCTTCTGGGCCACACTTCATCACTGTCCAATTCTACACCTTGGTATTAAGCAAAAACCCAACTAACAGATTCCATTAATGCAATCTACGACGATTATCTTACAAATGTGGTGATTACCGTACTAGACTAAGTACCTTTCCCCGGGAAGAGATGGAAGTGCTGCCTGCCATGTGCCTGGCCAGTCAGCTCTCTGGAAACACTTACTCGAAGGGGACGTGGGTGCCACGTCCTGGAAGGCCGCCGCTCCACTTTGGGGCCACTGACAGGCTCCGTGGGTGCATCCAGGTGTTCTTCTGAGCCCAGCGAGAACTGGAACCGGAGTGTACCCGACTCCACCTGCTTCACCTGCAATGGACCAGAAGAGCAGTGATGGCCACTCCCTTCATCAGCACGCCTATCAGAACGATCCAACCAGGAACAGCAGGCTCTGCCCTAAAACAAAGTCTACGTGAAATCAGAGGCTTCTTGATGCCACATGTTCTCAGATTATAATCAAGTAGTTTGAGCAAAAAGCAATTGGTGTGGCATTAAAAGCCCTGCAGACCATATGATCATGGAATGACCCTTACCCAAGCAGAAATCGCAATCTCTCTCGAGTTGTGAATGTTGTCATTGACCTATGTGAAACTGACATCTTTATTCTGGGTATGGCTCTGTGGGTTTTGGCACATGCACAGATTCACATAACCAGCACCACACCCAGGGTGCAGGCCAGCCCCATCCCCCCAGGGTGCTCCCTTGCCCTGCCCTGCCCCTCTGCAGCCACACCCAGCCCATGCCTAACCCGGGCAATCTATGACTGCTTCCCCAGCACTGTCATTTCGTCTTTTTGAGAATGTCAAAAAAATGTCCAACACATGGAATCACATAATGTATAACTTTTGAGACCAGCTTCTTTCATTTAGCATAAGACTGAGGAGATTCATCCAAGTTGTTACATACACATCAAACTGTTTCTTTTTTTATTACTGAGTGATATTCTATTGTACGGATGTACCAGTTTATTTATCCATTCACTCACAAACATTTGGGTAGTTTCTGGTTTGGGTGATTATAAACAGACCTGCTACAAACACATATGTTTGTGTGAATACAGGTTTCATTTCTCCAAGAGTAGGACTGCTGGGTCATATGGCATATTTAATTTCATAAGGCACTTCCAAACTTTATTTCTGGACTCTCTAGTCTGTTCCATTAACTGAATTCCTTGATACTAATTATATTAATCAGTGTAGCTGTACAGTAAGTGTTTAAACTGTGTAGTATGATTCCTCCAACTTTACTGTTCTTTTTTCAAAACTATTTTGACTCTTCTAATTCCTTTAGCTTTCCATATAAATTTCAGAATCAGCTTGTCTATATCGCCAAAAAAATCCTGCTGAGATTTTGACTGAAACTGCATAAAATCTCTAGATCAATCTTGGGCAGAACTGACAGCTTTACTATGTTGAGTTTCCCAAGACATAAACATGTTACGTCTCTCCAATTATTTAGGTCTTCTTTGATTTCACCTAAGAATAACCACAATGACAACTAGCAAAAGGACAGTTTTATTGTTTTCAGCATACAGATCCCCTAACTATTTTGTTAGATTTAGTTCATGGAGGGCAGGCTTTGTAAACAATACTGTTTCTGTATTTTGCTTTCAATTTTTCAGTGCTAGTATACAGAAATAGGATTGATTTTTCATGTTGACTTCCTGTGTTATCCTGCAACCTCACTAAACCCACTTACTCATTCTAAAAGGACTTTTTTGTAGACTCCTCAGAATCTTTGGCATAGACAATCACGTTTTCTGCAAATAAGGACAGTTTTGTTTCTTCCTTCTAATGTGTAGGTCTTTTGTTTTCTTGACTTACAGCACTGACTACAACTTCCAGTGCAATACTGAACATGACGTTGAATGCTAACAGTGGACATCCTTTACTTGTTCCTAATCTTAGGGGGAAAGCAATCAGTCTTTCACCATTAAGTATGATGTTAACTAAAGAGTTTTTGTAAACATCACTGATTATGCTAAGGAAGTTTTCTTTTATTGCTAGTTTGCTCAGTTTTTAATCATAAACTGATGCTGAATATCGTCAAATGTTTTTTCAGTATCAATTGCCAGGATCATATGGTTTTCCTTCTTTAGGCTGTTACTATAATGAATTACATTTATTGATTTCCAAATAGAAAACAGACTTGCATTCTCTGGATAAAGCTCCACTTGGCTATAGTGTATTATTCTTTTTGCGTATTGCTGGACTCAATCTGCTAATATTTTGTTG
|
pathogenic
| 1,294 |
Is the genetic mutation found on chromosome 1 at position 5933177, within the gene NPHP4 (nephrocystin 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
|
TCTTTTAATTTACGTTATATTTATTTAAAGTATACTTCTTATAGACAGTATATAGTTGGGCTTTGTCTTTCATTAAGCCTGACAATATCTTTTAAACTGGTGTGTTTACACTATTTACACGTAATGTAATTATAGGCATACCTCAAAGATACTACAGGTTCAGTTCCAAACCACTACAATAAAGCAAGTCACTGAATTTTTTGGTTTCCCAGTGCATTTAAAAGTTGTATTTATACTATACTGTAGTCAATAGGTGTGTAATAGCATATGTCTAAAAAAAAAAAAAAAAAAGTACTGTACCTACCTTAATTTAAAAATACTTTATTGCTGGCCGGGTGCAGTGACTCACATCTGCAATCCCAGCACTTTGAGAGGCACACAGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCAGGCATGGTGGTGGGCACCTATAATCCCAGCTACTTGGGAGGCTGAGCCAGAAGAATCGCGTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGGTTACAGAGCAGGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACTTTCTTGCTAAAAAAATGCTAACCATTGTGCCATTATAGGTATGGTGACTCACGCCTATAATCCCAACACTCTGGGAGGCCAAGGTAGGAGGATCCCTTGAACCCAGGAGCTCAAGATGATCCCAGGAAACACAGCAAGACCTCAACTCTACAAAAATTAAAAAATTACCCAGGCATGGTGGCACATGCCTGTAGTCCTAGCTACTCAGGACACTGAGGTGTGAGGATTGCTGGAGCATAGGAGTTCAAGGCTGCAGTGAACTATGATCGTGCCACGCACTCCAGCCAGGGCAACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAATGCTAAGGATCATCTAAGCCTTCCAGAACATTGTAATCTTTTTGCTAGTGGAGGGTTGTGCCTTGATATTGATGGCTGCTGCCTAATCAGAGTAGTGGTTGCTGAAGGTTGGGATGCCTGCAGAGCTTTCATAAAACAAGACCACAATGCAAGTTTGCTCCATCAATTGACTTTTCATGTCATAAAAGAGTACCATGCAATGCTATTTGACAGTATTTTACCATAGGCAGAACTTTCAAAATCATAGTCAATCTTCTCAAACCTTGCCATTGCTTTATCAACTAAGTTTAGGTAATATTCTAAATATTACATCTATATACCTTTAAAATCTCACCAAACACTGCAGCCGAGCAGAAACTCTGCCACACCTCGGAGAGCCCAACGGACTCTAGCCATCTGCCAGAGCAGGGTTTCGCACTGTCTGTGGTGCCCTGGGTCACCGCTAACCATCCTCCAACACCGCCAATGGGGCCAAGGAGGCTGGGGATGAGACCCTCATACACACTTCAACCCACTTCGCTCTACTTGTTTTTGCCGTCTTAATTGGGGTGCAGAGAACATTTCATTTCAGAATTAAAAAAAAAAAAAAAACCTGAGAATCTCTGCTGTGGTCCTACCCCTTGGTACACACCCAAGGTCCAACAAGCATTAGTGATAAGTCACAAAGATAAGCCAGGGCTAGAAACCAGAACCGGCTCCCACCTCAGCACTCATCCACCAAAAAACCTACTGGTAAAGGCCACATGAGGCCCAAGCTCCAATGCTCCAAACGTGCACGCCACACAGGTGAATCTTGCTGCAAAGTGTGTACACATCAGCTGGAGGTTCACCAAGTCATCCCAGGAAATCAGTATGTGAACAGCAATAAAACCCATGATAAAACTGGTCTTATCAGGTTTACATAAAAACATCATACTAATCTTTCTAAAGGCATACCCATGACATGAAAAAAATTCTGTAAATGAAACATCTGCAAACATATTTGTGAACTTTTGCTTTTGAAAATGAATGAACTTGCTAGAAGCTCACCGGAGATGCATAAGAAATACCTAATAATTTACCTCTTCAGAGCTCATGCTGGCTGAGGGTACCTTGTAGACCAGACAGTGCGAGGGGTTGGGCTGGATCCCACCCTGCAGAGGCAGGGTCACCCTTCCAGAATCAGCTTCCAGCAAGGGGTTCCAAACAGCCCAGCGGACCATGTGCATGCATGCCAGGTTGGACAGAGAGGTGACCGAAGCTGCCTAGAATTAAAACAAAGCACATCGGTGTATGAGTTATCACAGAAGTCACCTGGAGAGGGGAAATCAACAGTGCTTTCATGTGTAAAATTCAACGAGAGCTCAGTGTAGCAAGGGGCAGGGATCATCAGTTGCATTTTATAAAAGGAACTAGGGCAGGAGGAGGACATGGCATCCACAGTGCAGACAGTAGGGCACAGATAGTCTTCAGTTACATGACCCCACCGACCCAGTCAGGACCCCTGCCCACCCATGAGTCTCCTTTTCTGGCCCAAGGTAGTGATGGCTTCCCCCTTAGAGACCAGCACTGTTTTATGAACCCCTGTTCCCATAAGGATCTTTCCATAGGTTTGTAAACACTCTGCACCTTGCCAACACCAACTCAAATCCGTCAGGAAAATACTAGGAACAGCACTTTGAATTCCTAATCAGAAATTTGGTAAAATAACGAAGAATGCACATGTATATTCAACTCAGCATTATTAGCACACATTTTCTCCACAAAGCTCCAGCTTACAATAGCACATTTCGTATCTGTAGCTTTCAGGAAATTGGGAAATCGATCGGGTCAAATTCCAGGCATTGTTCCTTCTTTCTGCTTCTCTCTGGCTGGCCAAATGGAAGGAATGAGGACACTGTGAAAACCAATCCCTTGGGTTACAACCACATTAAAGTCATTGTCACAAACACGGTTTCACGGCTTGACTGAGTAAAGAGTTTTAAAATTACCAACTTTCATCCATTTACTTAAAAAGAAGTAGGACTAAAGCTAAACCCCGGTCTTTTTTGGACCCCAAAGTCCAGCAGAGCCACCTTGTTGAAGAGGACTCCAGAGGTGATCAGCTCTGAACCAAGGCCCTGCCTGCAGATCCTGCAGGCTCCCCTGGTGGGTGGAGCACACTTAAGTCACCAGGAAGCCGATTAGCCAGAGGCCCATGGGGTACAGGCAACAGCGGGTCCGACCAGGAGCCCCAGTTAGAGCTCTTTCCACTCCTAAGATCACAGCTGCACTGATCAGTAAGTGCTGCGGAGCGCTGCCTAGACCAGAGCCACCGGAACAGCCCAGAGGAAGGAGGAGCAGCTGTCCACTTCCACCTGGGACTTCCAGCCTCTGTGTCCCATGCGCAGGAGAAACAACCCCCAAGCAGGAGGTGGTGACTGGACCATGAGCACAGTGCTCCACTTCCTACAGTGCTCCACTTGCTACGGCTTCCCCCCAGCCCTGGCTAACAGAGACAGCTGCACCCTTCAGGGGTGACAAAAGTAAAATGGGGTGGCTCCCCACTGCTCCCAGTCCCGGGCTTGGCTAAGGCAGCCAAGGGCATCCCTCTTAACACTGCTGCCTGAGGGCATGAACCCAGGCAGCATCGCAAGCGCAGCCATGGTCACAGCGAGGAGGTGGCCCGGAAGGAGGACGCGTCCCACTCTTGGTGACGAATGGACGCCCATGCCCTGCCTAGGATGGGTGGAGCACAGCATCCACCAGGAACAGAGACACCCAGAGGATCCAGGAATTTGCGCTGCCCTGGGAGCGAAGGAGGAGGCAAGACTCCAGTGGTGGTGGCCAGGGGTCCTAAGGGACTTTGCTTATTTGGCTGGACATGCCAGTGGGGAACAGCCACACCAGTGTCACTGCCCAGACTGCACTCAGGTCCCACACAGATCCCCGCATGCATGCGTGCTCTCAAGGCCTCTAAAATCCGGACACAGATGGCCCCATGGTCTCTACTGGGCTAAACCACAGCCAACTTCATATACAAGCAGATGTGAATACAGAAAAGAAAACAGTTCTTGTTTCTTCCAAGTTAGCCTCTTCCAGACTGTTCCTGCCAGATGATATCCCATCCTGTTATATCCTAATAAAAATTTAGAATCGGCATCTTGTTTCACATTAATCT
|
TCTTTTAATTTACGTTATATTTATTTAAAGTATACTTCTTATAGACAGTATATAGTTGGGCTTTGTCTTTCATTAAGCCTGACAATATCTTTTAAACTGGTGTGTTTACACTATTTACACGTAATGTAATTATAGGCATACCTCAAAGATACTACAGGTTCAGTTCCAAACCACTACAATAAAGCAAGTCACTGAATTTTTTGGTTTCCCAGTGCATTTAAAAGTTGTATTTATACTATACTGTAGTCAATAGGTGTGTAATAGCATATGTCTAAAAAAAAAAAAAAAAAAGTACTGTACCTACCTTAATTTAAAAATACTTTATTGCTGGCCGGGTGCAGTGACTCACATCTGCAATCCCAGCACTTTGAGAGGCACACAGATCACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCAGGCATGGTGGTGGGCACCTATAATCCCAGCTACTTGGGAGGCTGAGCCAGAAGAATCGCGTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGGTTACAGAGCAGGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACTTTCTTGCTAAAAAAATGCTAACCATTGTGCCATTATAGGTATGGTGACTCACGCCTATAATCCCAACACTCTGGGAGGCCAAGGTAGGAGGATCCCTTGAACCCAGGAGCTCAAGATGATCCCAGGAAACACAGCAAGACCTCAACTCTACAAAAATTAAAAAATTACCCAGGCATGGTGGCACATGCCTGTAGTCCTAGCTACTCAGGACACTGAGGTGTGAGGATTGCTGGAGCATAGGAGTTCAAGGCTGCAGTGAACTATGATCGTGCCACGCACTCCAGCCAGGGCAACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAATGCTAAGGATCATCTAAGCCTTCCAGAACATTGTAATCTTTTTGCTAGTGGAGGGTTGTGCCTTGATATTGATGGCTGCTGCCTAATCAGAGTAGTGGTTGCTGAAGGTTGGGATGCCTGCAGAGCTTTCATAAAACAAGACCACAATGCAAGTTTGCTCCATCAATTGACTTTTCATGTCATAAAAGAGTACCATGCAATGCTATTTGACAGTATTTTACCATAGGCAGAACTTTCAAAATCATAGTCAATCTTCTCAAACCTTGCCATTGCTTTATCAACTAAGTTTAGGTAATATTCTAAATATTACATCTATATACCTTTAAAATCTCACCAAACACTGCAGCCGAGCAGAAACTCTGCCACACCTCGGAGAGCCCAACGGACTCTAGCCATCTGCCAGAGCAGGGTTTCGCACTGTCTGTGGTGCCCTGGGTCACCGCTAACCATCCTCCAACACCGCCAATGGGGCCAAGGAGGCTGGGGATGAGACCCTCATACACACTTCAACCCACTTCGCTCTACTTGTTTTTGCCGTCTTAATTGGGGTGCAGAGAACATTTCATTTCAGAATTAAAAAAAAAAAAAAAACCTGAGAATCTCTGCTGTGGTCCTACCCCTTGGTACACACCCAAGGTCCAACAAGCATTAGTGATAAGTCACAAAGATAAGCCAGGGCTAGAAACCAGAACCGGCTCCCACCTCAGCACTCATCCACCAAAAAACCTACTGGTAAAGGCCACATGAGGCCCAAGCTCCAATGCTCCAAACGTGCACGCCACACAGGTGAATCTTGCTGCAAAGTGTGTACACATCAGCTGGAGGTTCACCAAGTCATCCCAGGAAATCAGTATGTGAACAGCAATAAAACCCATGATAAAACTGGTCTTATCAGGTTTACATAAAAACATCATACTAATCTTTCTAAAGGCATACCCATGACATGAAAAAAATTCTGTAAATGAAACATCTGCAAACATATTTGTGAACTTTTGCTTTTGAAAATGAATGAACTTGCTAGAAGCTCACCGGAGATGCATAAGAAATACCTAATAATTTACCTCTTCAGAGCTCATGCTGGCTGAGGGTACCTGTAGACCAGACAGTGCGAGGGGTTGGGCTGGATCCCACCCTGCAGAGGCAGGGTCACCCTTCCAGAATCAGCTTCCAGCAAGGGGTTCCAAACAGCCCAGCGGACCATGTGCATGCATGCCAGGTTGGACAGAGAGGTGACCGAAGCTGCCTAGAATTAAAACAAAGCACATCGGTGTATGAGTTATCACAGAAGTCACCTGGAGAGGGGAAATCAACAGTGCTTTCATGTGTAAAATTCAACGAGAGCTCAGTGTAGCAAGGGGCAGGGATCATCAGTTGCATTTTATAAAAGGAACTAGGGCAGGAGGAGGACATGGCATCCACAGTGCAGACAGTAGGGCACAGATAGTCTTCAGTTACATGACCCCACCGACCCAGTCAGGACCCCTGCCCACCCATGAGTCTCCTTTTCTGGCCCAAGGTAGTGATGGCTTCCCCCTTAGAGACCAGCACTGTTTTATGAACCCCTGTTCCCATAAGGATCTTTCCATAGGTTTGTAAACACTCTGCACCTTGCCAACACCAACTCAAATCCGTCAGGAAAATACTAGGAACAGCACTTTGAATTCCTAATCAGAAATTTGGTAAAATAACGAAGAATGCACATGTATATTCAACTCAGCATTATTAGCACACATTTTCTCCACAAAGCTCCAGCTTACAATAGCACATTTCGTATCTGTAGCTTTCAGGAAATTGGGAAATCGATCGGGTCAAATTCCAGGCATTGTTCCTTCTTTCTGCTTCTCTCTGGCTGGCCAAATGGAAGGAATGAGGACACTGTGAAAACCAATCCCTTGGGTTACAACCACATTAAAGTCATTGTCACAAACACGGTTTCACGGCTTGACTGAGTAAAGAGTTTTAAAATTACCAACTTTCATCCATTTACTTAAAAAGAAGTAGGACTAAAGCTAAACCCCGGTCTTTTTTGGACCCCAAAGTCCAGCAGAGCCACCTTGTTGAAGAGGACTCCAGAGGTGATCAGCTCTGAACCAAGGCCCTGCCTGCAGATCCTGCAGGCTCCCCTGGTGGGTGGAGCACACTTAAGTCACCAGGAAGCCGATTAGCCAGAGGCCCATGGGGTACAGGCAACAGCGGGTCCGACCAGGAGCCCCAGTTAGAGCTCTTTCCACTCCTAAGATCACAGCTGCACTGATCAGTAAGTGCTGCGGAGCGCTGCCTAGACCAGAGCCACCGGAACAGCCCAGAGGAAGGAGGAGCAGCTGTCCACTTCCACCTGGGACTTCCAGCCTCTGTGTCCCATGCGCAGGAGAAACAACCCCCAAGCAGGAGGTGGTGACTGGACCATGAGCACAGTGCTCCACTTCCTACAGTGCTCCACTTGCTACGGCTTCCCCCCAGCCCTGGCTAACAGAGACAGCTGCACCCTTCAGGGGTGACAAAAGTAAAATGGGGTGGCTCCCCACTGCTCCCAGTCCCGGGCTTGGCTAAGGCAGCCAAGGGCATCCCTCTTAACACTGCTGCCTGAGGGCATGAACCCAGGCAGCATCGCAAGCGCAGCCATGGTCACAGCGAGGAGGTGGCCCGGAAGGAGGACGCGTCCCACTCTTGGTGACGAATGGACGCCCATGCCCTGCCTAGGATGGGTGGAGCACAGCATCCACCAGGAACAGAGACACCCAGAGGATCCAGGAATTTGCGCTGCCCTGGGAGCGAAGGAGGAGGCAAGACTCCAGTGGTGGTGGCCAGGGGTCCTAAGGGACTTTGCTTATTTGGCTGGACATGCCAGTGGGGAACAGCCACACCAGTGTCACTGCCCAGACTGCACTCAGGTCCCACACAGATCCCCGCATGCATGCGTGCTCTCAAGGCCTCTAAAATCCGGACACAGATGGCCCCATGGTCTCTACTGGGCTAAACCACAGCCAACTTCATATACAAGCAGATGTGAATACAGAAAAGAAAACAGTTCTTGTTTCTTCCAAGTTAGCCTCTTCCAGACTGTTCCTGCCAGATGATATCCCATCCTGTTATATCCTAATAAAAATTTAGAATCGGCATCTTGTTTCACATTAATCTN
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pathogenic
| 1,297 |
Chromosome 1, position 5948220, gene NPHP4 (nephrocystin 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
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pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4']
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TTGGAACAAACGCCCCATGGAAAAGGCGGAACTGCATTATTGACTTTTTCAAACAGAAAACTAAATCTTAAGAACAGCAGGATTTGGGTTTCTCAAAGAATCTACATTAATATAAATGATGTCCACATATTTTATTTCTTTCAACTGAACCTATAAATTCTTACTCTTAGTGTTCTATAGGTATATATAAAGTTCCCTATGAGAAACCATCTCTCATTTGTGCAAACTCAAGCTTTACCACACTACTGTCATATAAAAATACATTAAAATGGCCTCATTTTTCAAAATAATTAGCGATTCAATAATCATGAATTAACGCTATTATGATACATGAAACTTACTGACCTATGCATTACTCCCAGCCAGCAGAATGCACCTGTGATTTGTGAAATATGTATTTGATCTTCGTCCAGTTTCCTGGTATACAACTCCTGAAACCCCCGGAATCTCCGAAGTGCTATCTTTTGTGTGCTAATGAGATGACTGTGGCTGGTAGCCCCTAGGTGGCTTCAGGATGGGGCTGCTCACAGAAAGACCAAGGCAGGGGGAGGAGAGTGACTGAAGGTTACATTGATCATCAATGGCCAATGTTTAATCAATTATGCCTACGTAATAAAGTTTTCATCAAAACCCAAAAGGACTGACTTCAGAGAGCTCTGGACAGCTGAACCCATGGAAGTGCCCAGAGGGCGGTGCCCAGGAGGGCATGGGAGCTCCAAGTCCTTCCCACATTCTTTGCCCTCTCCATCTCATCTGTATCCTTTGTAACATTCCTTACAATCAGCTGATAAATGTCAGTAAAGTGATTTTTACTTATTATTTATAATAATCATGCCTGTTTTTAATGGAAAAAGCATTCATGCCCACTACATTTATCCTCACACACAGAGTTCACCACCAGAGGAAACCGAGTGCAAAAGGGCTGTTCTTACATTGCCGTCCACTCCTGCAGGGCTGCTGAACACGTACTCCAGCTGGAAGATGACCGCAAATGCAGGGTGGCCGACCATCTCTGGGAGGCGGAGGCGGCTTCTCAAAACCAGAGCTTGGCTCCCGGAGCTGGGTCAGAAACACAAACCAGGGACACATTAGAGCTCGAGCTCCCATCCTTCCCGCATCCACGTCGACCACTGTCAGAACAGTCAAGGGGACACCCTGGGGGACACAGGGGTGCTGCTGCAACAGCAAGTCCACCATGTAACACTGCACGCTCTCCCAAATGATTCAGAAATTCCCCAAAACGCTGCTTTTTAAGAGATGGGGGTCTCACTAGGCTGCCATGACTGGTCTCAAACTCCTGAGCTCAAGCAATCCTCCCGCCTCAGCCTCTCATTGCTCTTTCAACGCATTTCCAAATTACCAAAGCTTGCCTGCAGGCCTGATACGGCCAAGTTACCAGGAAATGCCACAGAGGATGGAGGCTCCTTCCTCAAGGCTGGCCTACGGCAGAGGACACCTGGCCTCTGCCTGGCACCATGAGAGAGGAAAGGCATGACGCCCTGCAGTGATGTCTGTGACACCTGATTTGGGAAGCACTGGATTAAACAGAGCAGCAGGTCTTGCTGCCCCCTGACTCTCCGTCCTATGAGAAACTAATCACAGGGCACGCCTAGAAGGCAGCATGCAAGGCCTCCGTAGACCCTCAGCAGCCGCAGCTGGAAGCATCCATAATGCTAACCCCCAAATTGTCAGAGCACAAAAGGAAAAAAAAAGGGGGGGGCTTTTTCCAAACTTCCAACTCCAAAGTTTGTTCCTAATGGGCACAACTTCCAAGAGGAAAGAAACACAAGGAAGAACTCCCACGTGGGTGAGTCAACACCTGACATGCACAAATGACCTCATTTCATCGTGATCCCTTGCACATCCCCACCCATCCCTGGGGACCCAAGAGACAATACCTGGTCTTGGAAGAGGAGACCACTTTCCTGCTGAAGCTAGCTGAGCGCGTCAAGGCCACATCCATCTCAGGCACCAGTACAACGACCTGCGGCCTCTGCACGAAGCCCAGACCATTGTGCACGCCCACACGCAGGCGCCGCTCCAGGATCTCCAGGGCACCACCGTCCAGTGGGCCACATCCCTGGAAGAGGCACAGAAGGAATGAGCCCCGGCACAGACGGAAAGAGGGAGCTCGCCAGAAGTCCCTGGGGGAGGCGAGCAGAGAGAAGAAACTGGAGCAGAAGTTGCAGATAACTGCAGATCAGATGATGCTTAGTCAAGATGAGTGCAAGCAAATGACAGATACAGCACCCAATCCCAGCCACTGGCCTTGGGGCACTGCCCGGGCAGTTTTGGCATTTCCAACACAGCATGATCCTCTCAGCAACGCACACCCTCAGATGCCTCGATCCCCAAAACCCGACACTAGCTTTCCAAGGCTGGGCTGACCATTCTCAAGATGCAGCAAACTCGTACTTGGCTCCTTCAAGACTCCTCCAAGGTCCCACAGCCCACTCCCCCAGAGCCCCCCTTTCCCAGAGGCTGCTTCCCCAGAGCCCCCTTCCCTGGGGCCCAATTCCCTGGACGACGATGGAGAGGTGCTCAGAGGCAGAGCTCATCACATTTCAACTCTGTCTACCCAGAGACCTGAGACTGGGTGTACAAAGGGAAACATGTTTAGGCACTAAGTCATAAACCAATAAAAACAGAACCAGCCCCAAAGTGGTCACTCGATATTAAAGTGTTTCATCTTAACAAAAATGTACAGGCGCTATAACAAATGAACAAGGATATTCCCCTGGCTATTAGTGTTTATTAAATTATGTGATCTTTGCAAAATGATCCTCAAATTTTCAAGTTTTCTTTACTGTCCATTAATCAAGCTGAACAGACCTAAATTCAGCCTATTAGTCTTTGGATAACGAAAATAAAACTATGCAGATAACTGAGTATCTGCCAGTTGGATTGGAACAAAAATACAAAGATAGTAAAAATACACAATAAAGTGATTTTTATGGGACTGTATAAAATTCAACAATGATATTCCTAAAACAACTCTACCCTCACACAATCCGCCCTGACAAACAAGAAAACAGCAGGAACTACACCAAGGAAACGGATGTTGGTGTTTCAATCCTATTCTCTGCTTTGTGTTTACATAAGACCATATTATGTAGAACTGCATTTTCAAGAACGGGTAGGGAGCAAACAAGTCCAGCTCATTCACATACATACACACACACACACACACACACACACAACTTGCTAACTTCATAGACTACTAGGATGAGCACCTGAATCATTCATTCTCACAACTAAATAGTACAGCCCTCCTATGTGCCAAACACCGTTCATGCACATCACGTGTCATTGTAAACAAAACAAAGTCCCTGTCCTGGTGACACTCACCACAGGAGACCGACAATAACAGATAAGAAGGCCAGCTGCTCCCAGGAAGGGCTGAGCACCCGGGAGGAACGCGGGGTGACAGCTGGAGACACGGTGGCAAGGGCGGGGAACAGCACCCCCGCAGGACAGTCAGAGGACCCCGTCCAGACCTGAAGCCTGAGGGGAAACAAGCAGAGATGTGCAGGAAGAACATTCAGGAAAGTCAGCTACATGCTCCAGGACCCATGCAGGGACAAGCATGAGTCCGAGGCCACCTAGGCAGAGGCATGCCTGAATCCGGGACCACAAAACAGGCCCAGGAAGCAGCACACAGTGAAGTAGGGAAACCAGCAAAGACCAAACCATGACCAGGAGGCAGCACATAGTGAGGCAGGGGAAACCGGCAAAGACCAAACCACGTGCATCTTGGAGGACCAGGAGCCTAGGTGTCAGTCCAAGGGCAATGAGAAGCCAGCAGCAGGTTTTAAACACAGAAGAAAAATGGCTGAATTTATGTGGCCTCTCCTGTGGCAGCCAGTCTGGGCTTGCTCTCATGGAGGCAGATGTTTAAGAGAGGAGTTTAAGAGAGGGTCCCTAAAAGTCCAATTACACTTCATCTTACCCAAAAGGCCGAGAAGCAATGAATTTATGTTTTTAAAAGACCTCTTTGACTACTGAGTGAAAAAAATGTTCTCTGGGACTTTCAAGTGAACATGAGGGACACTTCCTCAGAGAATTTCCTTCCCCCAATACCTAAGGAGCAAAATAT
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TTGGAACAAACGCCCCATGGAAAAGGCGGAACTGCATTATTGACTTTTTCAAACAGAAAACTAAATCTTAAGAACAGCAGGATTTGGGTTTCTCAAAGAATCTACATTAATATAAATGATGTCCACATATTTTATTTCTTTCAACTGAACCTATAAATTCTTACTCTTAGTGTTCTATAGGTATATATAAAGTTCCCTATGAGAAACCATCTCTCATTTGTGCAAACTCAAGCTTTACCACACTACTGTCATATAAAAATACATTAAAATGGCCTCATTTTTCAAAATAATTAGCGATTCAATAATCATGAATTAACGCTATTATGATACATGAAACTTACTGACCTATGCATTACTCCCAGCCAGCAGAATGCACCTGTGATTTGTGAAATATGTATTTGATCTTCGTCCAGTTTCCTGGTATACAACTCCTGAAACCCCCGGAATCTCCGAAGTGCTATCTTTTGTGTGCTAATGAGATGACTGTGGCTGGTAGCCCCTAGGTGGCTTCAGGATGGGGCTGCTCACAGAAAGACCAAGGCAGGGGGAGGAGAGTGACTGAAGGTTACATTGATCATCAATGGCCAATGTTTAATCAATTATGCCTACGTAATAAAGTTTTCATCAAAACCCAAAAGGACTGACTTCAGAGAGCTCTGGACAGCTGAACCCATGGAAGTGCCCAGAGGGCGGTGCCCAGGAGGGCATGGGAGCTCCAAGTCCTTCCCACATTCTTTGCCCTCTCCATCTCATCTGTATCCTTTGTAACATTCCTTACAATCAGCTGATAAATGTCAGTAAAGTGATTTTTACTTATTATTTATAATAATCATGCCTGTTTTTAATGGAAAAAGCATTCATGCCCACTACATTTATCCTCACACACAGAGTTCACCACCAGAGGAAACCGAGTGCAAAAGGGCTGTTCTTACATTGCCGTCCACTCCTGCAGGGCTGCTGAACACGTACTCCAGCTGGAAGATGACCGCAAATGCAGGGTGGCCGACCATCTCTGGGAGGCGGAGGCGGCTTCTCAAAACCAGAGCTTGGCTCCCGGAGCTGGGTCAGAAACACAAACCAGGGACACATTAGAGCTCGAGCTCCCATCCTTCCCGCATCCACGTCGACCACTGTCAGAACAGTCAAGGGGACACCCTGGGGGACACAGGGGTGCTGCTGCAACAGCAAGTCCACCATGTAACACTGCACGCTCTCCCAAATGATTCAGAAATTCCCCAAAACGCTGCTTTTTAAGAGATGGGGGTCTCACTAGGCTGCCATGACTGGTCTCAAACTCCTGAGCTCAAGCAATCCTCCCGCCTCAGCCTCTCATTGCTCTTTCAACGCATTTCCAAATTACCAAAGCTTGCCTGCAGGCCTGATACGGCCAAGTTACCAGGAAATGCCACAGAGGATGGAGGCTCCTTCCTCAAGGCTGGCCTACGGCAGAGGACACCTGGCCTCTGCCTGGCACCATGAGAGAGGAAAGGCATGACGCCCTGCAGTGATGTCTGTGACACCTGATTTGGGAAGCACTGGATTAAACAGAGCAGCAGGTCTTGCTGCCCCCTGACTCTCCGTCCTATGAGAAACTAATCACAGGGCACGCCTAGAAGGCAGCATGCAAGGCCTCCGTAGACCCTCAGCAGCCGCAGCTGGAAGCATCCATAATGCTAACCCCCAAATTGTCAGAGCACAAAAGGAAAAAAAAAGGGGGGGGCTTTTTCCAAACTTCCAACTCCAAAGTTTGTTCCTAATGGGCACAACTTCCAAGAGGAAAGAAACACAAGGAAGAACTCCCACGTGGGTGAGTCAACACCTGACATGCACAAATGACCTCATTTCATCGTGATCCCTTGCACATCCCCACCCATCCCTGGGGACCCAAGAGACAATACCTGGTCTTGGAAGAGGAGACCACTTTCCTGCTGAAGCTAGCTGAGCGCGTCAAGGCCACATCCATCTCAGGCACCAGTACAACGACCTGCGGCCTCTGCACGAAGCCCAGACCATTGTGCACGCCCACACGCAGGCGCCGCTCCAGGATCTCCACCGTCCAGTGGGCCACATCCCTGGAAGAGGCACAGAAGGAATGAGCCCCGGCACAGACGGAAAGAGGGAGCTCGCCAGAAGTCCCTGGGGGAGGCGAGCAGAGAGAAGAAACTGGAGCAGAAGTTGCAGATAACTGCAGATCAGATGATGCTTAGTCAAGATGAGTGCAAGCAAATGACAGATACAGCACCCAATCCCAGCCACTGGCCTTGGGGCACTGCCCGGGCAGTTTTGGCATTTCCAACACAGCATGATCCTCTCAGCAACGCACACCCTCAGATGCCTCGATCCCCAAAACCCGACACTAGCTTTCCAAGGCTGGGCTGACCATTCTCAAGATGCAGCAAACTCGTACTTGGCTCCTTCAAGACTCCTCCAAGGTCCCACAGCCCACTCCCCCAGAGCCCCCCTTTCCCAGAGGCTGCTTCCCCAGAGCCCCCTTCCCTGGGGCCCAATTCCCTGGACGACGATGGAGAGGTGCTCAGAGGCAGAGCTCATCACATTTCAACTCTGTCTACCCAGAGACCTGAGACTGGGTGTACAAAGGGAAACATGTTTAGGCACTAAGTCATAAACCAATAAAAACAGAACCAGCCCCAAAGTGGTCACTCGATATTAAAGTGTTTCATCTTAACAAAAATGTACAGGCGCTATAACAAATGAACAAGGATATTCCCCTGGCTATTAGTGTTTATTAAATTATGTGATCTTTGCAAAATGATCCTCAAATTTTCAAGTTTTCTTTACTGTCCATTAATCAAGCTGAACAGACCTAAATTCAGCCTATTAGTCTTTGGATAACGAAAATAAAACTATGCAGATAACTGAGTATCTGCCAGTTGGATTGGAACAAAAATACAAAGATAGTAAAAATACACAATAAAGTGATTTTTATGGGACTGTATAAAATTCAACAATGATATTCCTAAAACAACTCTACCCTCACACAATCCGCCCTGACAAACAAGAAAACAGCAGGAACTACACCAAGGAAACGGATGTTGGTGTTTCAATCCTATTCTCTGCTTTGTGTTTACATAAGACCATATTATGTAGAACTGCATTTTCAAGAACGGGTAGGGAGCAAACAAGTCCAGCTCATTCACATACATACACACACACACACACACACACACACAACTTGCTAACTTCATAGACTACTAGGATGAGCACCTGAATCATTCATTCTCACAACTAAATAGTACAGCCCTCCTATGTGCCAAACACCGTTCATGCACATCACGTGTCATTGTAAACAAAACAAAGTCCCTGTCCTGGTGACACTCACCACAGGAGACCGACAATAACAGATAAGAAGGCCAGCTGCTCCCAGGAAGGGCTGAGCACCCGGGAGGAACGCGGGGTGACAGCTGGAGACACGGTGGCAAGGGCGGGGAACAGCACCCCCGCAGGACAGTCAGAGGACCCCGTCCAGACCTGAAGCCTGAGGGGAAACAAGCAGAGATGTGCAGGAAGAACATTCAGGAAAGTCAGCTACATGCTCCAGGACCCATGCAGGGACAAGCATGAGTCCGAGGCCACCTAGGCAGAGGCATGCCTGAATCCGGGACCACAAAACAGGCCCAGGAAGCAGCACACAGTGAAGTAGGGAAACCAGCAAAGACCAAACCATGACCAGGAGGCAGCACATAGTGAGGCAGGGGAAACCGGCAAAGACCAAACCACGTGCATCTTGGAGGACCAGGAGCCTAGGTGTCAGTCCAAGGGCAATGAGAAGCCAGCAGCAGGTTTTAAACACAGAAGAAAAATGGCTGAATTTATGTGGCCTCTCCTGTGGCAGCCAGTCTGGGCTTGCTCTCATGGAGGCAGATGTTTAAGAGAGGAGTTTAAGAGAGGGTCCCTAAAAGTCCAATTACACTTCATCTTACCCAAAAGGCCGAGAAGCAATGAATTTATGTTTTTAAAAGACCTCTTTGACTACTGAGTGAAAAAAATGTTCTCTGGGACTTTCAAGTGAACATGAGGGACACTTCCTCAGAGAATTTCCTTCCCCCAATACCTAAGGAGCAAAATATNNNNNNNN
|
pathogenic
| 1,305 |
Considering the genetic mutation at chromosome 1, position 5978356, impacting NPHP4 (nephrocystin 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Nephronophthisis', 'Nephronophthisis_4']
|
TGACGGCATGCTTCTGAGCCGATGCCTGGCCACGGGAAGCGCCTCCCGGTGAAGGATGGCTAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTGAGAGGTATTTGCATTAGCTGTTTGACAACCTTAATGTCAGACACATCCTTAGCTGTCCAGACATACACTCTAGCAAGGCTTTTTATTGAAGCTTCGTGACCTCTGGGGTCATTCTCTCCCTCTACTACCCATGGGAGGAAGGGCAAGAGTCAGGACCCATCCATGTCAAGACACACATAATCCAAGCGCTGGGTGATGGTGGGGTACGGAGAGCAACGAGCTCGTGGCCCTAGGTGGGGGTGCTGACTGGCCAGAGCAGGCCCCCATGGGAAAGGCACACCTGGGCAGTGGTTACCTAGAGTAACGTCTCAAAGGACGGCCACTGTCACCGCCACTGTTACTCATCATACAAACTGTCCCAATACCAGGCCTCTTGGGGCCTCCTTCTATATACCTAAGATCAAACCAAGACAGCTGAGACCCTCTCATCACCTCTGTTGCCTCCACACTGTCCCTGCTGCACACCCGTCGTGCTCAGACACCATCCCTCTCAAACTCCCCCCACTCGAGTTCAGCTGTGAAGCAGCAGCCAGGCATGGGAAAGGCCTCCATGACATCGCCGGCTGTTAAGAGTCAAACGTCAGCGTCCCTAAGAAGACCCTGTAGGACCCAGCCAGAAGGCACGACGGGGCCACCCTGCCAACCCCACCCGTCAGCAAACCTGGGCTCTCCTCTCGTCCTAACACCCCTGGGTCTCCCTGCTCTGCTTGAAGCAGCCTCGTCCCTGCTTGTCACGGAGTCAGTTTCTTTCTCATCCTGTAAGTCCCAGCTTAATCAGCAGCTTCGCAGAGAGGCCTCCCTCGTCACCCACCTAAAGCAGGTCTCCACGTTCTCCTATTGGTCTCCACGTTCTCCTATCGGTCTCCTCCTGAGAATTTAACACAACTTGCAATTACTCTGTTACCTGCTCAGTGCGTCTCCGAAACAGTCTGCAGTTCTGTTAGGTGAGCGCCATCATCACCCTGAGCCTAGCATGATGCCCTGCAGAGAGCAGGTGCTGAATGGAATGTATGCTGTGCAGTGAACCACAGAGACAGAGCATGCCGGCCCGCAGGGTGGCCAGCCGCAAGACCACCTGAGTGAAAACACGCTGCTCAACCAGTGCCCATCCACCTGCCGGTCTCAAGACAGAAGGCACAGGTGTGAGTCCAGGCTCTGATACCTGCTACCTGGGCAAGTCACTTTACTAAATCTTAGTTTGTCTATACAGGAGGGAGGGAAGAAAGGAAGGAAGGGGACGGTGAAAGGGAAAGGGAGGGGGAGGGGAGGGGGAAGGAGAGGGGAGGGGAGAGGAGGAGAGGGAGCAGTAGTGGCAGCAGCCATAGATGAGGTCAATCATTTCCCAACTTATTCCCAAGAACTCCAAGATTCCTTGAAGGTGACAAGACCCCCATTCCCCTGACCCTTCAACCAGAGCAGAGCAGAGCTCTCTCATCTGTTTAAGACAACTGGCTTCCACATAAGATTTTGTTTGGTAACAAAGCGCTTGCCGCTAGACTAAGCTCTGTGCTGCCTGGACCCACAAGTCTGAGACGCGCTGTGAGGTCTCGGCAAGGCCCCAGTCTCTGGGCTGCCACCCAGGACCACCCGCACACACACCCTCCGCCTTGGAGCAGCCCCTGCCACCATCACCAGGGCCCACCTCATTAAAGACGATCCTGGACGGCGGTCTCTTCGTCGGCTTCACTGTGGTTTTCCACGTCCTCCCAAAGAAGTGCCGGTAGGTGACATCAAAGAAAGACACTCGCAGATGGCATTCAACCTCTGACAGTACCTCCAGCACGCCCTAGGAGACAACGGGGAATTGACCCTCAAGAGTCTGAGCACCATGAGCCAGGAGGTCACTGGCAGGCCATGTGGGTGCATATGGGGCCACCTCGCTCAGATATCAGCACGCTGGTTTCCTTATTGGGAGGCTACCTCTCTCCCACAGCTACTGGTCTTGGTGGGGTTATAAACCAAAGCATTTGGCCCTCCCCTGGCCAACGAAAGACTGCAGTCCCTTGGAACAGACACAGGCTTCTGACTCAGCCAGAGCCCAGGACGCACAAGAGGACATGACCACAGGAGACACATGCGCCTGCCAGGATGAGGCCCAGGGCTCCCAGCAGCCAACAGGTGAGAGAGAACAAGTCCAGGGGACATCACCTGAGACCTCGCTCAAGCCACACCTGAAGCTTATGCTGGCTGTGGATTTGCTGTGAGTCAACAAATCGCCTCTCACGTAAATCATTTTGGATGGGTTTGTTAATCATTTCCAACCAAATGAGCCCTTCCTGATATAACCAGAAACTAAATCCTCAACTTCCCAGATTTTGGGGTGACATTGGCAAAGCAAAAAGCAGATCTTTGAGAATTGAGAAATCATGGCTACAAATACAGAACAAAGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCAGAGCGGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCCGGAGCTTTACCACTTACAGCAAGTATTGCTTTAGCCTTTTCTCTTCTGTGACAGGTTCTTACCTGAGACAAGAGTCCTCCACCTTTCTTTCACCTATTCACTTAGTAAACGTTACTTACACATCTATTCTGCGCATTGACTCTCTGCCAGGCACATTTCCAGGCACTAGGGAAACAACAAGGAACAGACAAAATCTCTGCCCTTACAGGGCTTACATGGTGAAGAACGGGGAGAGAGGTGGGTGGGGCGGGGCAGGGCAGGGCAGGGCAGGCTCTCTGAGATGATCCTTGAGCTGAGAACAAGGGGGGCATGAGAAGAACCACAGGGAGTTTGGGGAGAGGGAGCCAGGCAGGAGGAGCAGCAAACTCAAAGGTCCTGAGAGGAAGAGAGCACACGTGCTCCAGGAGCCAGCGAGAAGTGCAGGAACTATATTTAGCTATAGTACCTGTGTTTTGTTTTTGTTTTTAAGAAAAGGGTCTCGTCTGTCACCCAGGCTGGAGGTCTGGCCACTGCAGCCTCCACCTCCCAGGCTCAAGCAATCCTCCTGCCTCATCCTGTCAAGTAGCTGGGACCACAGGTGCACTCCACCACACCCGGCTAATTTTTGTACTTTTTGTAGAGAGTGGGTTTTGCCAGGCTGGTCTTGATCTCCTGTCCTCAAGTGACCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGGTTACAGGGGTAAGCCACCATGCCCGGCCTGTATTTTCTAATTTTCTGTATTACTGATGCTCTGGCATCTGGGGCCTCAGTGACGAGATAAGACTGTCCCCCAGAGCCGGTTAATTCCTAGGGTGGCAAATGGCAGGCCTATCAGAATGTGTCTGACATGAAAACCAACCCGTCCAGAGACCACATGCCCCACTACCTCTGTCTGGCTCACACACCCCAGGAGTCCCACCCTCTGCCATGGTCTCTCAGGGTCAGTGACCAGACACCTCGGGCCATCCCTGCACCTCAGAGACCACGACATGACTCTCCTTGGCCAACGCAAGCCCGTCCAGCTGCCCACCCTCCCTGGCCCAGTCCTCCCACAAAACCATAATCAAGTCTCTGCCCATGCCTCCCTTCCACCCTCCTGCCTCCTGACCAACCCTGCGCTTCCCCAGGTGGCCTGTGGGACATGGCCTACCCCTCGTCTTGGGAGCCCTGAGTAACAGACAGGGTCTCAGCTGAGTTGTCTCCTGATCCGCTGGCCTCACCACCCCTAAATGGAAACCAGTCCCAGGTACATTCTAAGCAGAAAGCCCACCGGACTGCAGCAGGCTGGGCCAGGGAGGAGAGAAGGAAT
|
TGACGGCATGCTTCTGAGCCGATGCCTGGCCACGGGAAGCGCCTCCCGGTGAAGGATGGCTAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTGAGAGGTATTTGCATTAGCTGTTTGACAACCTTAATGTCAGACACATCCTTAGCTGTCCAGACATACACTCTAGCAAGGCTTTTTATTGAAGCTTCGTGACCTCTGGGGTCATTCTCTCCCTCTACTACCCATGGGAGGAAGGGCAAGAGTCAGGACCCATCCATGTCAAGACACACATAATCCAAGCGCTGGGTGATGGTGGGGTACGGAGAGCAACGAGCTCGTGGCCCTAGGTGGGGGTGCTGACTGGCCAGAGCAGGCCCCCATGGGAAAGGCACACCTGGGCAGTGGTTACCTAGAGTAACGTCTCAAAGGACGGCCACTGTCACCGCCACTGTTACTCATCATACAAACTGTCCCAATACCAGGCCTCTTGGGGCCTCCTTCTATATACCTAAGATCAAACCAAGACAGCTGAGACCCTCTCATCACCTCTGTTGCCTCCACACTGTCCCTGCTGCACACCCGTCGTGCTCAGACACCATCCCTCTCAAACTCCCCCCACTCGAGTTCAGCTGTGAAGCAGCAGCCAGGCATGGGAAAGGCCTCCATGACATCGCCGGCTGTTAAGAGTCAAACGTCAGCGTCCCTAAGAAGACCCTGTAGGACCCAGCCAGAAGGCACGACGGGGCCACCCTGCCAACCCCACCCGTCAGCAAACCTGGGCTCTCCTCTCGTCCTAACACCCCTGGGTCTCCCTGCTCTGCTTGAAGCAGCCTCGTCCCTGCTTGTCACGGAGTCAGTTTCTTTCTCATCCTGTAAGTCCCAGCTTAATCAGCAGCTTCGCAGAGAGGCCTCCCTCGTCACCCACCTAAAGCAGGTCTCCACGTTCTCCTATTGGTCTCCACGTTCTCCTATCGGTCTCCTCCTGAGAATTTAACACAACTTGCAATTACTCTGTTACCTGCTCAGTGCGTCTCCGAAACAGTCTGCAGTTCTGTTAGGTGAGCGCCATCATCACCCTGAGCCTAGCATGATGCCCTGCAGAGAGCAGGTGCTGAATGGAATGTATGCTGTGCAGTGAACCACAGAGACAGAGCATGCCGGCCCGCAGGGTGGCCAGCCGCAAGACCACCTGAGTGAAAACACGCTGCTCAACCAGTGCCCATCCACCTGCCGGTCTCAAGACAGAAGGCACAGGTGTGAGTCCAGGCTCTGATACCTGCTACCTGGGCAAGTCACTTTACTAAATCTTAGTTTGTCTATACAGGAGGGAGGGAAGAAAGGAAGGAAGGGGACGGTGAAAGGGAAAGGGAGGGGGAGGGGAGGGGGAAGGAGAGGGGAGGGGAGAGGAGGAGAGGGAGCAGTAGTGGCAGCAGCCATAGATGAGGTCAATCATTTCCCAACTTATTCCCAAGAACTCCAAGATTCCTTGAAGGTGACAAGACCCCCATTCCCCTGACCCTTCAACCAGAGCAGAGCAGAGCTCTCTCATCTGTTTAAGACAACTGGCTTCCACATAAGATTTTGTTTGGTAACAAAGCGCTTGCCGCTAGACTAAGCTCTGTGCTGCCTGGACCCACAAGTCTGAGACGCGCTGTGAGGTCTCGGCAAGGCCCCAGTCTCTGGGCTGCCACCCAGGACCACCCGCACACACACCCTCCGCCTTGGAGCAGCCCCTGCCACCATCACCAGGGCCCACCTCATTAAAGACGATCCTGGACGGCGGTCTCTTCGTCGGCTTCACTGTGGTTTTCCACGTCCTCCCAAAGAAGTGCCGGTAGGTGACAAGAAAGACACTCGCAGATGGCATTCAACCTCTGACAGTACCTCCAGCACGCCCTAGGAGACAACGGGGAATTGACCCTCAAGAGTCTGAGCACCATGAGCCAGGAGGTCACTGGCAGGCCATGTGGGTGCATATGGGGCCACCTCGCTCAGATATCAGCACGCTGGTTTCCTTATTGGGAGGCTACCTCTCTCCCACAGCTACTGGTCTTGGTGGGGTTATAAACCAAAGCATTTGGCCCTCCCCTGGCCAACGAAAGACTGCAGTCCCTTGGAACAGACACAGGCTTCTGACTCAGCCAGAGCCCAGGACGCACAAGAGGACATGACCACAGGAGACACATGCGCCTGCCAGGATGAGGCCCAGGGCTCCCAGCAGCCAACAGGTGAGAGAGAACAAGTCCAGGGGACATCACCTGAGACCTCGCTCAAGCCACACCTGAAGCTTATGCTGGCTGTGGATTTGCTGTGAGTCAACAAATCGCCTCTCACGTAAATCATTTTGGATGGGTTTGTTAATCATTTCCAACCAAATGAGCCCTTCCTGATATAACCAGAAACTAAATCCTCAACTTCCCAGATTTTGGGGTGACATTGGCAAAGCAAAAAGCAGATCTTTGAGAATTGAGAAATCATGGCTACAAATACAGAACAAAGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCAGAGCGGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCCGGAGCTTTACCACTTACAGCAAGTATTGCTTTAGCCTTTTCTCTTCTGTGACAGGTTCTTACCTGAGACAAGAGTCCTCCACCTTTCTTTCACCTATTCACTTAGTAAACGTTACTTACACATCTATTCTGCGCATTGACTCTCTGCCAGGCACATTTCCAGGCACTAGGGAAACAACAAGGAACAGACAAAATCTCTGCCCTTACAGGGCTTACATGGTGAAGAACGGGGAGAGAGGTGGGTGGGGCGGGGCAGGGCAGGGCAGGGCAGGCTCTCTGAGATGATCCTTGAGCTGAGAACAAGGGGGGCATGAGAAGAACCACAGGGAGTTTGGGGAGAGGGAGCCAGGCAGGAGGAGCAGCAAACTCAAAGGTCCTGAGAGGAAGAGAGCACACGTGCTCCAGGAGCCAGCGAGAAGTGCAGGAACTATATTTAGCTATAGTACCTGTGTTTTGTTTTTGTTTTTAAGAAAAGGGTCTCGTCTGTCACCCAGGCTGGAGGTCTGGCCACTGCAGCCTCCACCTCCCAGGCTCAAGCAATCCTCCTGCCTCATCCTGTCAAGTAGCTGGGACCACAGGTGCACTCCACCACACCCGGCTAATTTTTGTACTTTTTGTAGAGAGTGGGTTTTGCCAGGCTGGTCTTGATCTCCTGTCCTCAAGTGACCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGGTTACAGGGGTAAGCCACCATGCCCGGCCTGTATTTTCTAATTTTCTGTATTACTGATGCTCTGGCATCTGGGGCCTCAGTGACGAGATAAGACTGTCCCCCAGAGCCGGTTAATTCCTAGGGTGGCAAATGGCAGGCCTATCAGAATGTGTCTGACATGAAAACCAACCCGTCCAGAGACCACATGCCCCACTACCTCTGTCTGGCTCACACACCCCAGGAGTCCCACCCTCTGCCATGGTCTCTCAGGGTCAGTGACCAGACACCTCGGGCCATCCCTGCACCTCAGAGACCACGACATGACTCTCCTTGGCCAACGCAAGCCCGTCCAGCTGCCCACCCTCCCTGGCCCAGTCCTCCCACAAAACCATAATCAAGTCTCTGCCCATGCCTCCCTTCCACCCTCCTGCCTCCTGACCAACCCTGCGCTTCCCCAGGTGGCCTGTGGGACATGGCCTACCCCTCGTCTTGGGAGCCCTGAGTAACAGACAGGGTCTCAGCTGAGTTGTCTCCTGATCCGCTGGCCTCACCACCCCTAAATGGAAACCAGTCCCAGGTACATTCTAAGCAGAAAGCCCACCGGACTGCAGCAGGCTGGGCCAGGGAGGAGAGAAGGAATNNNN
|
pathogenic
| 1,323 |
Variant in gene NPHP4 (nephrocystin 4), located at chromosome 1 position 5978416: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
TAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTGAGAGGTATTTGCATTAGCTGTTTGACAACCTTAATGTCAGACACATCCTTAGCTGTCCAGACATACACTCTAGCAAGGCTTTTTATTGAAGCTTCGTGACCTCTGGGGTCATTCTCTCCCTCTACTACCCATGGGAGGAAGGGCAAGAGTCAGGACCCATCCATGTCAAGACACACATAATCCAAGCGCTGGGTGATGGTGGGGTACGGAGAGCAACGAGCTCGTGGCCCTAGGTGGGGGTGCTGACTGGCCAGAGCAGGCCCCCATGGGAAAGGCACACCTGGGCAGTGGTTACCTAGAGTAACGTCTCAAAGGACGGCCACTGTCACCGCCACTGTTACTCATCATACAAACTGTCCCAATACCAGGCCTCTTGGGGCCTCCTTCTATATACCTAAGATCAAACCAAGACAGCTGAGACCCTCTCATCACCTCTGTTGCCTCCACACTGTCCCTGCTGCACACCCGTCGTGCTCAGACACCATCCCTCTCAAACTCCCCCCACTCGAGTTCAGCTGTGAAGCAGCAGCCAGGCATGGGAAAGGCCTCCATGACATCGCCGGCTGTTAAGAGTCAAACGTCAGCGTCCCTAAGAAGACCCTGTAGGACCCAGCCAGAAGGCACGACGGGGCCACCCTGCCAACCCCACCCGTCAGCAAACCTGGGCTCTCCTCTCGTCCTAACACCCCTGGGTCTCCCTGCTCTGCTTGAAGCAGCCTCGTCCCTGCTTGTCACGGAGTCAGTTTCTTTCTCATCCTGTAAGTCCCAGCTTAATCAGCAGCTTCGCAGAGAGGCCTCCCTCGTCACCCACCTAAAGCAGGTCTCCACGTTCTCCTATTGGTCTCCACGTTCTCCTATCGGTCTCCTCCTGAGAATTTAACACAACTTGCAATTACTCTGTTACCTGCTCAGTGCGTCTCCGAAACAGTCTGCAGTTCTGTTAGGTGAGCGCCATCATCACCCTGAGCCTAGCATGATGCCCTGCAGAGAGCAGGTGCTGAATGGAATGTATGCTGTGCAGTGAACCACAGAGACAGAGCATGCCGGCCCGCAGGGTGGCCAGCCGCAAGACCACCTGAGTGAAAACACGCTGCTCAACCAGTGCCCATCCACCTGCCGGTCTCAAGACAGAAGGCACAGGTGTGAGTCCAGGCTCTGATACCTGCTACCTGGGCAAGTCACTTTACTAAATCTTAGTTTGTCTATACAGGAGGGAGGGAAGAAAGGAAGGAAGGGGACGGTGAAAGGGAAAGGGAGGGGGAGGGGAGGGGGAAGGAGAGGGGAGGGGAGAGGAGGAGAGGGAGCAGTAGTGGCAGCAGCCATAGATGAGGTCAATCATTTCCCAACTTATTCCCAAGAACTCCAAGATTCCTTGAAGGTGACAAGACCCCCATTCCCCTGACCCTTCAACCAGAGCAGAGCAGAGCTCTCTCATCTGTTTAAGACAACTGGCTTCCACATAAGATTTTGTTTGGTAACAAAGCGCTTGCCGCTAGACTAAGCTCTGTGCTGCCTGGACCCACAAGTCTGAGACGCGCTGTGAGGTCTCGGCAAGGCCCCAGTCTCTGGGCTGCCACCCAGGACCACCCGCACACACACCCTCCGCCTTGGAGCAGCCCCTGCCACCATCACCAGGGCCCACCTCATTAAAGACGATCCTGGACGGCGGTCTCTTCGTCGGCTTCACTGTGGTTTTCCACGTCCTCCCAAAGAAGTGCCGGTAGGTGACATCAAAGAAAGACACTCGCAGATGGCATTCAACCTCTGACAGTACCTCCAGCACGCCCTAGGAGACAACGGGGAATTGACCCTCAAGAGTCTGAGCACCATGAGCCAGGAGGTCACTGGCAGGCCATGTGGGTGCATATGGGGCCACCTCGCTCAGATATCAGCACGCTGGTTTCCTTATTGGGAGGCTACCTCTCTCCCACAGCTACTGGTCTTGGTGGGGTTATAAACCAAAGCATTTGGCCCTCCCCTGGCCAACGAAAGACTGCAGTCCCTTGGAACAGACACAGGCTTCTGACTCAGCCAGAGCCCAGGACGCACAAGAGGACATGACCACAGGAGACACATGCGCCTGCCAGGATGAGGCCCAGGGCTCCCAGCAGCCAACAGGTGAGAGAGAACAAGTCCAGGGGACATCACCTGAGACCTCGCTCAAGCCACACCTGAAGCTTATGCTGGCTGTGGATTTGCTGTGAGTCAACAAATCGCCTCTCACGTAAATCATTTTGGATGGGTTTGTTAATCATTTCCAACCAAATGAGCCCTTCCTGATATAACCAGAAACTAAATCCTCAACTTCCCAGATTTTGGGGTGACATTGGCAAAGCAAAAAGCAGATCTTTGAGAATTGAGAAATCATGGCTACAAATACAGAACAAAGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCAGAGCGGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCCGGAGCTTTACCACTTACAGCAAGTATTGCTTTAGCCTTTTCTCTTCTGTGACAGGTTCTTACCTGAGACAAGAGTCCTCCACCTTTCTTTCACCTATTCACTTAGTAAACGTTACTTACACATCTATTCTGCGCATTGACTCTCTGCCAGGCACATTTCCAGGCACTAGGGAAACAACAAGGAACAGACAAAATCTCTGCCCTTACAGGGCTTACATGGTGAAGAACGGGGAGAGAGGTGGGTGGGGCGGGGCAGGGCAGGGCAGGGCAGGCTCTCTGAGATGATCCTTGAGCTGAGAACAAGGGGGGCATGAGAAGAACCACAGGGAGTTTGGGGAGAGGGAGCCAGGCAGGAGGAGCAGCAAACTCAAAGGTCCTGAGAGGAAGAGAGCACACGTGCTCCAGGAGCCAGCGAGAAGTGCAGGAACTATATTTAGCTATAGTACCTGTGTTTTGTTTTTGTTTTTAAGAAAAGGGTCTCGTCTGTCACCCAGGCTGGAGGTCTGGCCACTGCAGCCTCCACCTCCCAGGCTCAAGCAATCCTCCTGCCTCATCCTGTCAAGTAGCTGGGACCACAGGTGCACTCCACCACACCCGGCTAATTTTTGTACTTTTTGTAGAGAGTGGGTTTTGCCAGGCTGGTCTTGATCTCCTGTCCTCAAGTGACCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGGTTACAGGGGTAAGCCACCATGCCCGGCCTGTATTTTCTAATTTTCTGTATTACTGATGCTCTGGCATCTGGGGCCTCAGTGACGAGATAAGACTGTCCCCCAGAGCCGGTTAATTCCTAGGGTGGCAAATGGCAGGCCTATCAGAATGTGTCTGACATGAAAACCAACCCGTCCAGAGACCACATGCCCCACTACCTCTGTCTGGCTCACACACCCCAGGAGTCCCACCCTCTGCCATGGTCTCTCAGGGTCAGTGACCAGACACCTCGGGCCATCCCTGCACCTCAGAGACCACGACATGACTCTCCTTGGCCAACGCAAGCCCGTCCAGCTGCCCACCCTCCCTGGCCCAGTCCTCCCACAAAACCATAATCAAGTCTCTGCCCATGCCTCCCTTCCACCCTCCTGCCTCCTGACCAACCCTGCGCTTCCCCAGGTGGCCTGTGGGACATGGCCTACCCCTCGTCTTGGGAGCCCTGAGTAACAGACAGGGTCTCAGCTGAGTTGTCTCCTGATCCGCTGGCCTCACCACCCCTAAATGGAAACCAGTCCCAGGTACATTCTAAGCAGAAAGCCCACCGGACTGCAGCAGGCTGGGCCAGGGAGGAGAGAAGGAATGAGCGCCAGGCGCAAGAGCGTTCAGGCAGGCCTCACGGCGCGAGGAGAAGCTGGGTTCTC
|
TAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTGAGAGGTATTTGCATTAGCTGTTTGACAACCTTAATGTCAGACACATCCTTAGCTGTCCAGACATACACTCTAGCAAGGCTTTTTATTGAAGCTTCGTGACCTCTGGGGTCATTCTCTCCCTCTACTACCCATGGGAGGAAGGGCAAGAGTCAGGACCCATCCATGTCAAGACACACATAATCCAAGCGCTGGGTGATGGTGGGGTACGGAGAGCAACGAGCTCGTGGCCCTAGGTGGGGGTGCTGACTGGCCAGAGCAGGCCCCCATGGGAAAGGCACACCTGGGCAGTGGTTACCTAGAGTAACGTCTCAAAGGACGGCCACTGTCACCGCCACTGTTACTCATCATACAAACTGTCCCAATACCAGGCCTCTTGGGGCCTCCTTCTATATACCTAAGATCAAACCAAGACAGCTGAGACCCTCTCATCACCTCTGTTGCCTCCACACTGTCCCTGCTGCACACCCGTCGTGCTCAGACACCATCCCTCTCAAACTCCCCCCACTCGAGTTCAGCTGTGAAGCAGCAGCCAGGCATGGGAAAGGCCTCCATGACATCGCCGGCTGTTAAGAGTCAAACGTCAGCGTCCCTAAGAAGACCCTGTAGGACCCAGCCAGAAGGCACGACGGGGCCACCCTGCCAACCCCACCCGTCAGCAAACCTGGGCTCTCCTCTCGTCCTAACACCCCTGGGTCTCCCTGCTCTGCTTGAAGCAGCCTCGTCCCTGCTTGTCACGGAGTCAGTTTCTTTCTCATCCTGTAAGTCCCAGCTTAATCAGCAGCTTCGCAGAGAGGCCTCCCTCGTCACCCACCTAAAGCAGGTCTCCACGTTCTCCTATTGGTCTCCACGTTCTCCTATCGGTCTCCTCCTGAGAATTTAACACAACTTGCAATTACTCTGTTACCTGCTCAGTGCGTCTCCGAAACAGTCTGCAGTTCTGTTAGGTGAGCGCCATCATCACCCTGAGCCTAGCATGATGCCCTGCAGAGAGCAGGTGCTGAATGGAATGTATGCTGTGCAGTGAACCACAGAGACAGAGCATGCCGGCCCGCAGGGTGGCCAGCCGCAAGACCACCTGAGTGAAAACACGCTGCTCAACCAGTGCCCATCCACCTGCCGGTCTCAAGACAGAAGGCACAGGTGTGAGTCCAGGCTCTGATACCTGCTACCTGGGCAAGTCACTTTACTAAATCTTAGTTTGTCTATACAGGAGGGAGGGAAGAAAGGAAGGAAGGGGACGGTGAAAGGGAAAGGGAGGGGGAGGGGAGGGGGAAGGAGAGGGGAGGGGAGAGGAGGAGAGGGAGCAGTAGTGGCAGCAGCCATAGATGAGGTCAATCATTTCCCAACTTATTCCCAAGAACTCCAAGATTCCTTGAAGGTGACAAGACCCCCATTCCCCTGACCCTTCAACCAGAGCAGAGCAGAGCTCTCTCATCTGTTTAAGACAACTGGCTTCCACATAAGATTTTGTTTGGTAACAAAGCGCTTGCCGCTAGACTAAGCTCTGTGCTGCCTGGACCCACAAGTCTGAGACGCGCTGTGAGGTCTCGGCAAGGCCCCAGTCTCTGGGCTGCCACCCAGGACCACCCGCACACACACCCTCCGCCTTGGAGCAGCCCCTGCCACCATCACCAGGGCCCACCTCATTAAAGACGATCCTGGACGGCGGTCTCTTCGTCGGCTTCACTGTGGTTTTCCACGTCCTCCCAAAGAAGTGCCGGTAGGTGACATCAAAGAAAGACACTCGCAGATGGCATTCAACCTCTGACAGTACCTCCAGCACGCCCTAGAGACAACGGGGAATTGACCCTCAAGAGTCTGAGCACCATGAGCCAGGAGGTCACTGGCAGGCCATGTGGGTGCATATGGGGCCACCTCGCTCAGATATCAGCACGCTGGTTTCCTTATTGGGAGGCTACCTCTCTCCCACAGCTACTGGTCTTGGTGGGGTTATAAACCAAAGCATTTGGCCCTCCCCTGGCCAACGAAAGACTGCAGTCCCTTGGAACAGACACAGGCTTCTGACTCAGCCAGAGCCCAGGACGCACAAGAGGACATGACCACAGGAGACACATGCGCCTGCCAGGATGAGGCCCAGGGCTCCCAGCAGCCAACAGGTGAGAGAGAACAAGTCCAGGGGACATCACCTGAGACCTCGCTCAAGCCACACCTGAAGCTTATGCTGGCTGTGGATTTGCTGTGAGTCAACAAATCGCCTCTCACGTAAATCATTTTGGATGGGTTTGTTAATCATTTCCAACCAAATGAGCCCTTCCTGATATAACCAGAAACTAAATCCTCAACTTCCCAGATTTTGGGGTGACATTGGCAAAGCAAAAAGCAGATCTTTGAGAATTGAGAAATCATGGCTACAAATACAGAACAAAGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCAGAGCGGCAGCCAGAGTGTAGACAGGCAGGACCCTGCCCCGGAGCTTTACCACTTACAGCAAGTATTGCTTTAGCCTTTTCTCTTCTGTGACAGGTTCTTACCTGAGACAAGAGTCCTCCACCTTTCTTTCACCTATTCACTTAGTAAACGTTACTTACACATCTATTCTGCGCATTGACTCTCTGCCAGGCACATTTCCAGGCACTAGGGAAACAACAAGGAACAGACAAAATCTCTGCCCTTACAGGGCTTACATGGTGAAGAACGGGGAGAGAGGTGGGTGGGGCGGGGCAGGGCAGGGCAGGGCAGGCTCTCTGAGATGATCCTTGAGCTGAGAACAAGGGGGGCATGAGAAGAACCACAGGGAGTTTGGGGAGAGGGAGCCAGGCAGGAGGAGCAGCAAACTCAAAGGTCCTGAGAGGAAGAGAGCACACGTGCTCCAGGAGCCAGCGAGAAGTGCAGGAACTATATTTAGCTATAGTACCTGTGTTTTGTTTTTGTTTTTAAGAAAAGGGTCTCGTCTGTCACCCAGGCTGGAGGTCTGGCCACTGCAGCCTCCACCTCCCAGGCTCAAGCAATCCTCCTGCCTCATCCTGTCAAGTAGCTGGGACCACAGGTGCACTCCACCACACCCGGCTAATTTTTGTACTTTTTGTAGAGAGTGGGTTTTGCCAGGCTGGTCTTGATCTCCTGTCCTCAAGTGACCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGGTTACAGGGGTAAGCCACCATGCCCGGCCTGTATTTTCTAATTTTCTGTATTACTGATGCTCTGGCATCTGGGGCCTCAGTGACGAGATAAGACTGTCCCCCAGAGCCGGTTAATTCCTAGGGTGGCAAATGGCAGGCCTATCAGAATGTGTCTGACATGAAAACCAACCCGTCCAGAGACCACATGCCCCACTACCTCTGTCTGGCTCACACACCCCAGGAGTCCCACCCTCTGCCATGGTCTCTCAGGGTCAGTGACCAGACACCTCGGGCCATCCCTGCACCTCAGAGACCACGACATGACTCTCCTTGGCCAACGCAAGCCCGTCCAGCTGCCCACCCTCCCTGGCCCAGTCCTCCCACAAAACCATAATCAAGTCTCTGCCCATGCCTCCCTTCCACCCTCCTGCCTCCTGACCAACCCTGCGCTTCCCCAGGTGGCCTGTGGGACATGGCCTACCCCTCGTCTTGGGAGCCCTGAGTAACAGACAGGGTCTCAGCTGAGTTGTCTCCTGATCCGCTGGCCTCACCACCCCTAAATGGAAACCAGTCCCAGGTACATTCTAAGCAGAAAGCCCACCGGACTGCAGCAGGCTGGGCCAGGGAGGAGAGAAGGAATGAGCGCCAGGCGCAAGAGCGTTCAGGCAGGCCTCACGGCGCGAGGAGAAGCTGGGTTCTCN
|
benign
| 1,324 |
The chromosome 1, position 6445949 genetic variant in gene ESPN (espin): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
CCTGTGGTCAGACGCACAGACCGGGCAGGGCGAGGGGATGGCAGGCCTGGCAGCCTGAGTTCTGGCTGCCCATCACTGCAGCTGGCCATCCAGGCCCCACCCTTACCCCGAGGGCCCCATCAGGAGACAGGCCGGGCTGGTGTTGGGAGTCTGCCCCAGGCCCCAGGTCCAGCAAGGAGAGCCGGCTTGCCAGCCAGGTAACTAGGGATGGGCCTGTGCTGTGCGCCTCCCCATGGAGCCTCTGCCGATCCGTGAGGGAGAAGGCCGATCTCCTGGCATTTCTCCCCTTGGGGTGCAGCTCAAGGGCCCCCTCCTTGTCGATCTCTCCACCCTCCTAATCAGGGAGGAGCCAGGGGAGGGAGTTTCCCAGGAACCTGGGTCCTGCTGCCTGGCGGGGCTGGGCTTGAATCTTAACCTGGAGGAACCTGAGAGACCGTCTAGTGATGGGGAAGAGACCCCAGAGAGCGGTGTGGCTTGGCCAAGATCCCACAGCGAAGGCATGACTGAGTAGGACCCTGGCCTGGAGAGCAACGCATCTTGGGGTATGGTTGTCTTCATGGCCTCCCTGCCTCCCCTTCAGAGCGTGGAGCACCGCGTGCTTTCCCGGGATCCATCCGCAGAGCTGGAGGCTAAGCAGCCGGATTCAGGCATGTCCTCACCCAATACCACGGTGTCGGTCCAGCCGCTGAACTTTGACCTCAGCTCGCCTACCAGCACCCTCTCCAACTACGACTCCTGCTCCTCCAGCCACTCCAGCATCAAGGGCCAGCACCCTCCATGTGGTGAGTGTGCCCAGGAGGAAGACGGGGAGGGAGAGCAGACTGAAGCCAGACTGCTGGGCTGTGAGGATTGGCCTTGGGCCGCCCTGCCACAGCCAATATCGGACACTACCCTCATCACTTGCTCTTAAACATGGGGAGGCGACACCCCTTCTGGTGAGAGACAGATGTCACTCATACTTGTGTGTGCTTATCACAAACATACATGTACATCCACATGTACTCTCCCCACCCACAAAGTCCACGTGTGTCGCCCACCATTCATTATTCTTAGCTACTCACATACAAAAGCACACACTTGTACATGTGTACATACAGCATACAGATATGAACACACAGAGCCATGCGAATATCTGCACACACCCACCCTACACACAAGCAAGCACACAGTGCTCTATTTCCATACTACAGATATGCACGCACACACACACACATACACACCATGTCCACAGAGCAATGCACACACATTCATCAGTACAAAGAAGCATGTGCACAAATGCGTACCCCCTCAAACATACACAAATGCACGATCGCCTCGGCAGACTGCAGGCTTGTGTGTACACACACCCTGACCGTGCCCTGAGCATGGGCGTCCGTCCACTTGCAATGCCTGCTTCACGCCGCCAGATGGTGGCCTCCAGACCTGGCAGGGGTGCCCTGCAAAGATTGGATGTGGCCATCCGTACTCCCAAGGAGTAGACCCTCCCCTTCCAGGTGACCCTGCCCTCTAGACACACCAAAGCCTCCAGTGCTTCCCCTCCAAACCGGAGTGCCTGGTCTTCCCCCAGTAAGTGCTGGGCTGGGGCAGGGTAGGGCCAGGGAGGGGAAGCCCAGCACCGCCAGGGGCCACAGCAGGTGTACCAAGTGGTGCCCGGAGCCCACCTTGCCCCTCGGCAAGTTGTTTCCAGGTGGTGGAGAGTCTCAGTCTTGGGGGACAGCCTGTCTGCATGCTCCCAAATCTGGCCCTTCCTTCTGCCTCCCCAGGGCTTTCCAGCGCTAGAGCTGCAGACATACAGAGCTACATGGACATGCTGAACCCGGAGCTGGGCCTGCCTCGGGGCACGATTGGGAAGCCCACACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCCCACCCCCACCTGGCTACCCAGCTCCCAAGCCTCCTGTAGGACCACAGGCAGCTGACATCTACATGCAGACCAAGAACAAACTCCGCCACGTGGAGACAGAGGCCCTCAAGAAGGAGGTAGTGAGCCCTCACCCCCTGCCTGCCTCCCAGCAGGGGGACTGGGCTGATGGGGGCCAGTGAGGCCAAAGGCCTGGCCTCACTAGTGGGCATAGGGTGGGGATCCCTGGGTCCATGGCATGTTCAAGAGTCAAAGCTCCTGGCGAGTCCCACAAGGGGTCAGGGCTGGACACTGGACTGGGAGGAGAGTAAGAGCAGGTCATTGCCCTCCATGGGAGCTGGGGGGTGAAGGACGCAGGTCCAGACAGCTGTGCCTCACCAGGAACTGGGCCTGTGCCACCTCTTGCACAGAGTGGCCGGGTTGTCATGGAGTTGACAGAGAATGCATGGAGACTGCCCCTCCCCAAGCATGCCCCCCCACCCCCACAGCCCCAGGCTCAGTCGGAGAGTGTCACCCAAGGGAGGTGGCTGCCAGGTGGAAGGTGCCAGTGGCATGGCTGTGGAGGTGAGGGCTGGAAGGAGGGTGGGGGGAAGGTGAGCAGGCACTAGCAGGGCTGGGTGGAAGTGAAGCTGTGGCTGGTTCCAGTTTAGGGCTTGAGCTCCTGGGGGAAAGGGCCAGGCCTGAGCTGGGAGCCCTGGAAGGAAGCGAGCCTGTGTGGAGAGGATGAGGCCAGGGTGGGCAGGTGGAGTGTGAGGTGCCTAGGGATGTCTGGGGCCTGCAGGCCCCTGGCTGAGGCTCTGGAGCAGGGGTTGGGGCAGAGGTCTGGTCTGAGCAATTCCGGGTATCCCGGGCAGGGTGCCCTGGGGAACACTGGCGTTCTGGCCATAGGAACAGAGCAAGGATGGTCTAAGAGGTGAGGGGACAGCCTGAGGTCACAGGTGGCCAGATGTGGTGTGGCAGCCCCCTGGGGTCCTGCTGGAGCCTGGGACCTTGCAGTTCTCAAGCCCAAGGCAAAGCCACCCCAGGGCCAATTCATAAAAGGTGACTCGGGTCACAAGGCCACTGGGCAAGGGAGGCATGGGAGGGACACCGAACCTGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCGTCTCCACCGTTGAGCCCAAGTGCCAGGTCTGCGTGGTCCCCTCCTGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCGGGCTGTGTGCGCCCCTCCCGGCTGTGTGCGCCCCTCCCCACTGTGTGCGCCCCTCCCGGCTATGTGCGTCCATCTCGGCCGTGTGCGTGCTGGGCCGCAGGCGCCAGGGCCGGGGCCCGGACGCTCCACAAAGGGCTCTTTGTGTCGCCGCGGCGCCCCCCGCGCGGGTGCCTGACCGGGGGCGGGAGCAGGGTCGTGGCGTCCGAACCTCCGGGCTGCAGGGGGCGCGGAGCGGGCGGGCTGGCCCAGAAAACAAATCCTGCGGTGTCGCATTTCCTGCAACGTGAGCCAGGTCGGGCGGGGTGAAGGGTCTGAGGCCACCGCAGGGACGCATGGGCTGGAGAGTGGGGCAGAGGACAGCCCCCACCCGGTCACTCAGTCTTTGGCCCGGCCGCCTCACTCTCCCTCACTGAGCTGGGCCTAGTTGGGGGCAGCTGCGATGGGGTGGGAAGCCACGCTGTCACCCGACCCCGCCTTACGGCCCCTGAAATCCGAGGCTTGAGCGCGGGTGTCGGTGTCGCTTTCGTGGATGGCGATGGTTTCCAGATGCAGGAGGGGAAGGGTGGGGACGCGACCCGGAGCCGGGGGCCAAATATGAGAGGCCTCCTCTGCCCACAGTCAGCCCTCTCCCCTCTCGGGCGGGGATGAAGGTGGGGGCTCAGCTCCCAGCTTAGGGAGAGGCGCAGGGGGCGGGGTCACATCTGGCCGGGGACGGGTGCAGAGCCGCGGCCAGGTGTGGCAAAGTAGTTGGCGCCCCCTGTGGCATCCGCGACGGCTGGGGGGGTTCAGCCTGGGATTGGCGGGCCCCGGGTGATGTCAGGCCGTCGGA
|
CCTGTGGTCAGACGCACAGACCGGGCAGGGCGAGGGGATGGCAGGCCTGGCAGCCTGAGTTCTGGCTGCCCATCACTGCAGCTGGCCATCCAGGCCCCACCCTTACCCCGAGGGCCCCATCAGGAGACAGGCCGGGCTGGTGTTGGGAGTCTGCCCCAGGCCCCAGGTCCAGCAAGGAGAGCCGGCTTGCCAGCCAGGTAACTAGGGATGGGCCTGTGCTGTGCGCCTCCCCATGGAGCCTCTGCCGATCCGTGAGGGAGAAGGCCGATCTCCTGGCATTTCTCCCCTTGGGGTGCAGCTCAAGGGCCCCCTCCTTGTCGATCTCTCCACCCTCCTAATCAGGGAGGAGCCAGGGGAGGGAGTTTCCCAGGAACCTGGGTCCTGCTGCCTGGCGGGGCTGGGCTTGAATCTTAACCTGGAGGAACCTGAGAGACCGTCTAGTGATGGGGAAGAGACCCCAGAGAGCGGTGTGGCTTGGCCAAGATCCCACAGCGAAGGCATGACTGAGTAGGACCCTGGCCTGGAGAGCAACGCATCTTGGGGTATGGTTGTCTTCATGGCCTCCCTGCCTCCCCTTCAGAGCGTGGAGCACCGCGTGCTTTCCCGGGATCCATCCGCAGAGCTGGAGGCTAAGCAGCCGGATTCAGGCATGTCCTCACCCAATACCACGGTGTCGGTCCAGCCGCTGAACTTTGACCTCAGCTCGCCTACCAGCACCCTCTCCAACTACGACTCCTGCTCCTCCAGCCACTCCAGCATCAAGGGCCAGCACCCTCCATGTGGTGAGTGTGCCCAGGAGGAAGACGGGGAGGGAGAGCAGACTGAAGCCAGACTGCTGGGCTGTGAGGATTGGCCTTGGGCCGCCCTGCCACAGCCAATATCGGACACTACCCTCATCACTTGCTCTTAAACATGGGGAGGCGACACCCCTTCTGGTGAGAGACAGATGTCACTCATACTTGTGTGTGCTTATCACAAACATACATGTACATCCACATGTACTCTCCCCACCCACAAAGTCCACGTGTGTCGCCCACCATTCATTATTCTTAGCTACTCACATACAAAAGCACACACTTGTACATGTGTACATACAGCATACAGATATGAACACACAGAGCCATGCGAATATCTGCACACACCCACCCTACACACAAGCAAGCACACAGTGCTCTATTTCCATACTACAGATATGCACGCACACACACACACATACACACCATGTCCACAGAGCAATGCACACACATTCATCAGTACAAAGAAGCATGTGCACAAATGCGTACCCCCTCAAACATACACAAATGCACGATCGCCTCGGCAGACTGCAGGCTTGTGTGTACACACACCCTGACCGTGCCCTGAGCATGGGCGTCCGTCCACTTGCAATGCCTGCTTCACGCCGCCAGATGGTGGCCTCCAGACCTGGCAGGGGTGCCCTGCAAAGATTGGATGTGGCCATCCGTACTCCCAAGGAGTAGACCCTCCCCTTCCAGGTGACCCTGCCCTCTAGACACACCAAAGCCTCCAGTGCTTCCCCTCCAAACCGGAGTGCCTGGTCTTCCCCCAGTAAGTGCTGGGCTGGGGCAGGGTAGGGCCAGGGAGGGGAAGCCCAGCACCGCCAGGGGCCACAGCAGGTGTACCAAGTGGTGCCCGGAGCCCACCTTGCCCCTCGGCAAGTTGTTTCCAGGTGGTGGAGAGTCTCAGTCTTGGGGGACAGCCTGTCTGCATGCTCCCAAATCTGGCCCTTCCTTCTGCCTCCCCAGGGCTTTCCAGCGCTAGAGCTGCAGACATACAGAGCTACATGGACATGCTGAACCCGGAGCTGGGCCTGCCTCGGGGCACGATTGGGAAGCCCACACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCCCACCCCCACCTGGCTACCCAGCTCCCAAGCCTCCTGTAGGACCACAGGCAGCTGACATCTACATGCAGACCAAGAACAAACTCCGCCACGTGGAGACAGAGGCCCTCAAGAAGGAGGTAGTGAGCCCTCACCCCTGCCTGCCTCCCAGCAGGGGGACTGGGCTGATGGGGGCCAGTGAGGCCAAAGGCCTGGCCTCACTAGTGGGCATAGGGTGGGGATCCCTGGGTCCATGGCATGTTCAAGAGTCAAAGCTCCTGGCGAGTCCCACAAGGGGTCAGGGCTGGACACTGGACTGGGAGGAGAGTAAGAGCAGGTCATTGCCCTCCATGGGAGCTGGGGGGTGAAGGACGCAGGTCCAGACAGCTGTGCCTCACCAGGAACTGGGCCTGTGCCACCTCTTGCACAGAGTGGCCGGGTTGTCATGGAGTTGACAGAGAATGCATGGAGACTGCCCCTCCCCAAGCATGCCCCCCCACCCCCACAGCCCCAGGCTCAGTCGGAGAGTGTCACCCAAGGGAGGTGGCTGCCAGGTGGAAGGTGCCAGTGGCATGGCTGTGGAGGTGAGGGCTGGAAGGAGGGTGGGGGGAAGGTGAGCAGGCACTAGCAGGGCTGGGTGGAAGTGAAGCTGTGGCTGGTTCCAGTTTAGGGCTTGAGCTCCTGGGGGAAAGGGCCAGGCCTGAGCTGGGAGCCCTGGAAGGAAGCGAGCCTGTGTGGAGAGGATGAGGCCAGGGTGGGCAGGTGGAGTGTGAGGTGCCTAGGGATGTCTGGGGCCTGCAGGCCCCTGGCTGAGGCTCTGGAGCAGGGGTTGGGGCAGAGGTCTGGTCTGAGCAATTCCGGGTATCCCGGGCAGGGTGCCCTGGGGAACACTGGCGTTCTGGCCATAGGAACAGAGCAAGGATGGTCTAAGAGGTGAGGGGACAGCCTGAGGTCACAGGTGGCCAGATGTGGTGTGGCAGCCCCCTGGGGTCCTGCTGGAGCCTGGGACCTTGCAGTTCTCAAGCCCAAGGCAAAGCCACCCCAGGGCCAATTCATAAAAGGTGACTCGGGTCACAAGGCCACTGGGCAAGGGAGGCATGGGAGGGACACCGAACCTGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCGTCTCCACCGTTGAGCCCAAGTGCCAGGTCTGCGTGGTCCCCTCCTGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCGGGCTGTGTGCGCCCCTCCCGGCTGTGTGCGCCCCTCCCCACTGTGTGCGCCCCTCCCGGCTATGTGCGTCCATCTCGGCCGTGTGCGTGCTGGGCCGCAGGCGCCAGGGCCGGGGCCCGGACGCTCCACAAAGGGCTCTTTGTGTCGCCGCGGCGCCCCCCGCGCGGGTGCCTGACCGGGGGCGGGAGCAGGGTCGTGGCGTCCGAACCTCCGGGCTGCAGGGGGCGCGGAGCGGGCGGGCTGGCCCAGAAAACAAATCCTGCGGTGTCGCATTTCCTGCAACGTGAGCCAGGTCGGGCGGGGTGAAGGGTCTGAGGCCACCGCAGGGACGCATGGGCTGGAGAGTGGGGCAGAGGACAGCCCCCACCCGGTCACTCAGTCTTTGGCCCGGCCGCCTCACTCTCCCTCACTGAGCTGGGCCTAGTTGGGGGCAGCTGCGATGGGGTGGGAAGCCACGCTGTCACCCGACCCCGCCTTACGGCCCCTGAAATCCGAGGCTTGAGCGCGGGTGTCGGTGTCGCTTTCGTGGATGGCGATGGTTTCCAGATGCAGGAGGGGAAGGGTGGGGACGCGACCCGGAGCCGGGGGCCAAATATGAGAGGCCTCCTCTGCCCACAGTCAGCCCTCTCCCCTCTCGGGCGGGGATGAAGGTGGGGGCTCAGCTCCCAGCTTAGGGAGAGGCGCAGGGGGCGGGGTCACATCTGGCCGGGGACGGGTGCAGAGCCGCGGCCAGGTGTGGCAAAGTAGTTGGCGCCCCCTGTGGCATCCGCGACGGCTGGGGGGGTTCAGCCTGGGATTGGCGGGCCCCGGGTGATGTCAGGCCGTCGGAN
|
benign
| 1,409 |
Regarding the variant found on chromosome 1 at position 6448961 in gene ESPN (espin): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
TGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCGTCTCCACCGTTGAGCCCAAGTGCCAGGTCTGCGTGGTCCCCTCCTGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCGGGCTGTGTGCGCCCCTCCCGGCTGTGTGCGCCCCTCCCCACTGTGTGCGCCCCTCCCGGCTATGTGCGTCCATCTCGGCCGTGTGCGTGCTGGGCCGCAGGCGCCAGGGCCGGGGCCCGGACGCTCCACAAAGGGCTCTTTGTGTCGCCGCGGCGCCCCCCGCGCGGGTGCCTGACCGGGGGCGGGAGCAGGGTCGTGGCGTCCGAACCTCCGGGCTGCAGGGGGCGCGGAGCGGGCGGGCTGGCCCAGAAAACAAATCCTGCGGTGTCGCATTTCCTGCAACGTGAGCCAGGTCGGGCGGGGTGAAGGGTCTGAGGCCACCGCAGGGACGCATGGGCTGGAGAGTGGGGCAGAGGACAGCCCCCACCCGGTCACTCAGTCTTTGGCCCGGCCGCCTCACTCTCCCTCACTGAGCTGGGCCTAGTTGGGGGCAGCTGCGATGGGGTGGGAAGCCACGCTGTCACCCGACCCCGCCTTACGGCCCCTGAAATCCGAGGCTTGAGCGCGGGTGTCGGTGTCGCTTTCGTGGATGGCGATGGTTTCCAGATGCAGGAGGGGAAGGGTGGGGACGCGACCCGGAGCCGGGGGCCAAATATGAGAGGCCTCCTCTGCCCACAGTCAGCCCTCTCCCCTCTCGGGCGGGGATGAAGGTGGGGGCTCAGCTCCCAGCTTAGGGAGAGGCGCAGGGGGCGGGGTCACATCTGGCCGGGGACGGGTGCAGAGCCGCGGCCAGGTGTGGCAAAGTAGTTGGCGCCCCCTGTGGCATCCGCGACGGCTGGGGGGGTTCAGCCTGGGATTGGCGGGCCCCGGGTGATGTCAGGCCGTCGGAGCCCATAGGCTGGCTGTGCGCGGGTGGCTGTAACCTGAGAGGAAGTATCAGGTAACGCAGGTGTCGGGTCCTGCCGCCCCCACAGCCAGGTGCACAGCGGGGGCCACCAGCACCGTGGCAGGTAGGAGCAGCCCCCGGACGGGCAACCGGGGTCCGTGGCAAGCCGGAGCCTCCGAGAGCACAGGCTCTGGAGGGGGCTCCCTCCGGCCCCGGACCCCCGAAAGACAGGGCTCCGCGGAGCCCTGGGGACCCGCAGTCCTTCTGACAGCCGAGAGCGGAGTGCGGCCGAGGGCCTAGTGAGGGCTAAGCTGGGAGGTGCCCCTTCGCCAGCTCCCCCTGGCGTCGGGGCTGGGCCACCCCGCCCCTGGGCCCGCCTCTTCTGGCCTCAGTGGGGGCCCCTGTGCCCCTTGGCCGGTGCCCAGAACCCCTCCCTGTAAGGCGGGCGGAGCCTGCCCTTCCACCGAGGCCCCCATGACCCTCGCCCGCTGCCCACTGTGAGAACCAGGGGGTCTAGGAAGTCAGCTGCTGCACCCCTCGACGGCCGCTGGCCGCGAGTCCCCAGGAGGTGAAGAGCTGGGTGGGGAGGCGTGGGGGGCGCCTACCGGGCAGGTGCCCGAGCCCCACCGGTCACTGTCTTCCCGCAGCTGAGCTCCTGTGACGGCCACGACGGGCTGCGGAGGCAGGACTCCAGCCGCAAGCCCCGCGCCTTCAGCAAGCAGCCCAGCACGGGGGACTACTACCGGCAGCTGGGCCGCTGCCCCGGCGAGACGCTGGCCGCACGCCCGGGCATGGCGCACAGCGAGGAGGTGCGTGCCCGCCAGCCCGCGCGCGCCGGCTGCCCGCGCCTCGGCCCTGCCGCCCGCGGCTCACTCGAAGGCCCCTCCGCTCCCCCGCAGGCGGCGCTGCTTCCTGGGAACCATGTTCCTAACGGCTGCGCCGCGGACCCCAAGGCGTCCAGGGAGCTGCCACCGCCGCCCCCACCGCCGCCGCCGCCCCTGCCGGAGGCCGCGAGTTCGCCACCGCCGGCCCCGCCTCTGCCCCTCGAGAGCGCTGGCCCTGGCTGCGGGCAGCGCCGCTCCTCCTCGTCCACCGGCAGTGAGTAGGGGCAGGTTGAGGGGCGTGGGGCGGCGCTAGCCCTGAAAGGGGAGGGAAATCTAGACACCGCCCCCTCCCCAGCTGTCACTGCCCGGGTCCTTCCTCTTCTACATGGTCTTCCGGCCACCCCTACCCCATTGAGTACTTGACCCTAAGAGAGGGCTCTGGGTTGCTTGAGGTCCTGCCAAAGCACGACCGGGCTGCACGGCCTGGGGCAAGTCCCTTCCCCAATCTGGGCCTGCCTCCCACCCCCTAGCTGTGTGGCCTGGGCAAGTCCCCTCCCCTCTCTGGGCCTCCTCCCACCAGCTAGAAAGGGCCTCCCAGCTCTGGCGCTGGTGTTTCCCATGAGCTGGTGCTGGTGTTTCTGATGAGCTGGTACTGGAGGGACACTCGAAGTAGAACCAGCTTCAGAGAGGCCCCGCAGCTAGCCACCCTTCCCCCTGCCCGTCTATCCTGAGCCTCTCTTCCTCTCTCCACGTCTTTCTCTTGTCCTTCCAAGCAGCACAGACCTGAAGTCTTCTTAGATATGCCAGGAACTCTTCCTAGCCAGTTTCTGCCAGGGGCCCTGGGCCAGCCAAGGCGTGGCTATGGGGGCAAAGCTGTGACCCACCGTGTTTCCCCCTCCCTCCCCGGTGACTTCCCTAGGCAACCTTTTTTAAGAGCTAGACTGGTGCAGGATTCCTGGGCTGCTTTTCTGTAGGGTGGGACAGTGTCCCCCTGCCAGGACACCTAGAAGGCCCAGGACAGAGTGCCTAGATGTGGTGCTCCCATCCCAGCCTGGCTGGGGTGTCTTCCTCACCCAGCCACTCAGGGCAGAGATCATGCTTAGTGGCACCCCTCAAAGCTTCATCTCCCTGACTAGAAGTGCAGAGCAGAGCTAGTCCCCCTACGGTTCCTATGGAGCCCCAGCCCCTGCAGACCAGAGCCCATGTAAGCAAGTCCAGCACCTGCCGAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGCTAGAGCCAGTGGTGGCCCTGCCCAGCCCTCAGGGGCACCAGCCAAGCCAGGAACTCGATGGACCACCCTCATGGGGCCCCAGAGCAGCCTGAGCCAGGGTCAGATGGGCAGAAAAGCTCCTCCTCTCTTCTCCACTTCCCCCCCGCCCGCTCTCCCTGGCCCGCTCCCTGTCCCCTGCTGTCCCAGTCTCATCCTGCCCCCCCTCCCTCCTAACTCCGCTGTCACTTCTCTCCTCTTGGTCCCTAGAAGTGAGAGTCCTGAGGCACAGGAAGAGTGAGTAGCTGCGTGCGCGGCTCCTGGCTGAGGCTGAGGCGCGGGGTGGGGGGAAGAGGCAGGAAAAGCAAGGCAGAAGGGGCCCAGACTTGAGGAAAGGGCAGGGGCAGGGGCTGGCAGGCGAGAGAACCTCGAAGAATGGGTGGGGCCTTGCACCTCATACCTACCCTCATACCCACATATGCACCCAAGCATTCTGCACCTGGCTGATGGTTTTGCCTAAATAAATGAGCCAGCCACACCGATTTTCCCTTTCTCCTACTCTTCTCCCCCACCACCCCCACCCGCTGTGACTGCATTCTGGGATCCCCAGCCTGGGAATCCAAGAGCTGTCGGCCCATTTTATTCCTCCCTCCCAGACCTGACCCCTTCATCGGGGCTCAAGAGACCTCTCTCTCCAAATCTCCATTTGCCTCCTCTGGCTAAGCTGGAAAATGCACACTCTGCCCTGGGTGTTTCCATATTATCCGCCTGCCCTTCCTCCTGGGTGCCTCCCGTAGCCTTAGTAAGGGCTCTGCTTTCCTGGGCCCCTAGAGCT
|
TGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCGTCTCCACCGTTGAGCCCAAGTGCCAGGTCTGCGTGGTCCCCTCCTGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCGGGCTGTGTGCGCCCCTCCCGGCTGTGTGCGCCCCTCCCCACTGTGTGCGCCCCTCCCGGCTATGTGCGTCCATCTCGGCCGTGTGCGTGCTGGGCCGCAGGCGCCAGGGCCGGGGCCCGGACGCTCCACAAAGGGCTCTTTGTGTCGCCGCGGCGCCCCCCGCGCGGGTGCCTGACCGGGGGCGGGAGCAGGGTCGTGGCGTCCGAACCTCCGGGCTGCAGGGGGCGCGGAGCGGGCGGGCTGGCCCAGAAAACAAATCCTGCGGTGTCGCATTTCCTGCAACGTGAGCCAGGTCGGGCGGGGTGAAGGGTCTGAGGCCACCGCAGGGACGCATGGGCTGGAGAGTGGGGCAGAGGACAGCCCCCACCCGGTCACTCAGTCTTTGGCCCGGCCGCCTCACTCTCCCTCACTGAGCTGGGCCTAGTTGGGGGCAGCTGCGATGGGGTGGGAAGCCACGCTGTCACCCGACCCCGCCTTACGGCCCCTGAAATCCGAGGCTTGAGCGCGGGTGTCGGTGTCGCTTTCGTGGATGGCGATGGTTTCCAGATGCAGGAGGGGAAGGGTGGGGACGCGACCCGGAGCCGGGGGCCAAATATGAGAGGCCTCCTCTGCCCACAGTCAGCCCTCTCCCCTCTCGGGCGGGGATGAAGGTGGGGGCTCAGCTCCCAGCTTAGGGAGAGGCGCAGGGGGCGGGGTCACATCTGGCCGGGGACGGGTGCAGAGCCGCGGCCAGGTGTGGCAAAGTAGTTGGCGCCCCCTGTGGCATCCGCGACGGCTGGGGGGGTTCAGCCTGGGATTGGCGGGCCCCGGGTGATGTCAGGCCGTCGGAGCCCATAGGCTGGCTGTGCGCGGGTGGCTGTAACCTGAGAGGAAGTATCAGGTAACGCAGGTGTCGGGTCCTGCCGCCCCCACAGCCAGGTGCACAGCGGGGGCCACCAGCACCGTGGCAGGTAGGAGCAGCCCCCGGACGGGCAACCGGGGTCCGTGGCAAGCCGGAGCCTCCGAGAGCACAGGCTCTGGAGGGGGCTCCCTCCGGCCCCGGACCCCCGAAAGACAGGGCTCCGCGGAGCCCTGGGGACCCGCAGTCCTTCTGACAGCCGAGAGCGGAGTGCGGCCGAGGGCCTAGTGAGGGCTAAGCTGGGAGGTGCCCCTTCGCCAGCTCCCCCTGGCGTCGGGGCTGGGCCACCCCGCCCCTGGGCCCGCCTCTTCTGGCCTCAGTGGGGGCCCCTGTGCCCCTTGGCCGGTGCCCAGAACCCCTCCCTGTAAGGCGGGCGGAGCCTGCCCTTCCACCGAGGCCCCCATGACCCTCGCCCGCTGCCCACTGTGAGAACCAGGGGGTCTAGGAAGTCAGCTGCTGCACCCCTCGACGGCCGCTGGCCGCGAGTCCCCAGGAGGTGAAGAGCTGGGTGGGGAGGCGTGGGGGGCGCCTACCGGGCAGGTGCCCGAGCCCCACCGGTCACTGTCTTCCCGCAGCTGAGCTCCTGTGACGGCCACGACGGGCTGCGGAGGCAGGACTCCAGCCGCAAGCCCCGCGCCTTCAGCAAGCAGCCCAGCACGGGGGACTACTACCGGCAGCTGGGCCGCTGCCCCGGCGAGACGCTGGCCGCACGCCCGGGCATGGCGCACAGCGAGGAGGTGCGTGCCCGCCAGCCCGCGCGCGCCGGCTGCCCGCGCCTCGGCCCTGCCGCCCGCGGCTCACTCGAAGGCCCCTCCGCTCCCCCGCAGGCGGCGCTGCTTCCTGGGAACCATGTTCCTAACGGCTGCGCCGCGGACCCCAAGGCGTCCAGGGAGCTGCCACCGCCGCCGCCGCCCCTGCCGGAGGCCGCGAGTTCGCCACCGCCGGCCCCGCCTCTGCCCCTCGAGAGCGCTGGCCCTGGCTGCGGGCAGCGCCGCTCCTCCTCGTCCACCGGCAGTGAGTAGGGGCAGGTTGAGGGGCGTGGGGCGGCGCTAGCCCTGAAAGGGGAGGGAAATCTAGACACCGCCCCCTCCCCAGCTGTCACTGCCCGGGTCCTTCCTCTTCTACATGGTCTTCCGGCCACCCCTACCCCATTGAGTACTTGACCCTAAGAGAGGGCTCTGGGTTGCTTGAGGTCCTGCCAAAGCACGACCGGGCTGCACGGCCTGGGGCAAGTCCCTTCCCCAATCTGGGCCTGCCTCCCACCCCCTAGCTGTGTGGCCTGGGCAAGTCCCCTCCCCTCTCTGGGCCTCCTCCCACCAGCTAGAAAGGGCCTCCCAGCTCTGGCGCTGGTGTTTCCCATGAGCTGGTGCTGGTGTTTCTGATGAGCTGGTACTGGAGGGACACTCGAAGTAGAACCAGCTTCAGAGAGGCCCCGCAGCTAGCCACCCTTCCCCCTGCCCGTCTATCCTGAGCCTCTCTTCCTCTCTCCACGTCTTTCTCTTGTCCTTCCAAGCAGCACAGACCTGAAGTCTTCTTAGATATGCCAGGAACTCTTCCTAGCCAGTTTCTGCCAGGGGCCCTGGGCCAGCCAAGGCGTGGCTATGGGGGCAAAGCTGTGACCCACCGTGTTTCCCCCTCCCTCCCCGGTGACTTCCCTAGGCAACCTTTTTTAAGAGCTAGACTGGTGCAGGATTCCTGGGCTGCTTTTCTGTAGGGTGGGACAGTGTCCCCCTGCCAGGACACCTAGAAGGCCCAGGACAGAGTGCCTAGATGTGGTGCTCCCATCCCAGCCTGGCTGGGGTGTCTTCCTCACCCAGCCACTCAGGGCAGAGATCATGCTTAGTGGCACCCCTCAAAGCTTCATCTCCCTGACTAGAAGTGCAGAGCAGAGCTAGTCCCCCTACGGTTCCTATGGAGCCCCAGCCCCTGCAGACCAGAGCCCATGTAAGCAAGTCCAGCACCTGCCGAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGCTAGAGCCAGTGGTGGCCCTGCCCAGCCCTCAGGGGCACCAGCCAAGCCAGGAACTCGATGGACCACCCTCATGGGGCCCCAGAGCAGCCTGAGCCAGGGTCAGATGGGCAGAAAAGCTCCTCCTCTCTTCTCCACTTCCCCCCCGCCCGCTCTCCCTGGCCCGCTCCCTGTCCCCTGCTGTCCCAGTCTCATCCTGCCCCCCCTCCCTCCTAACTCCGCTGTCACTTCTCTCCTCTTGGTCCCTAGAAGTGAGAGTCCTGAGGCACAGGAAGAGTGAGTAGCTGCGTGCGCGGCTCCTGGCTGAGGCTGAGGCGCGGGGTGGGGGGAAGAGGCAGGAAAAGCAAGGCAGAAGGGGCCCAGACTTGAGGAAAGGGCAGGGGCAGGGGCTGGCAGGCGAGAGAACCTCGAAGAATGGGTGGGGCCTTGCACCTCATACCTACCCTCATACCCACATATGCACCCAAGCATTCTGCACCTGGCTGATGGTTTTGCCTAAATAAATGAGCCAGCCACACCGATTTTCCCTTTCTCCTACTCTTCTCCCCCACCACCCCCACCCGCTGTGACTGCATTCTGGGATCCCCAGCCTGGGAATCCAAGAGCTGTCGGCCCATTTTATTCCTCCCTCCCAGACCTGACCCCTTCATCGGGGCTCAAGAGACCTCTCTCTCCAAATCTCCATTTGCCTCCTCTGGCTAAGCTGGAAAATGCACACTCTGCCCTGGGTGTTTCCATATTATCCGCCTGCCCTTCCTCCTGGGTGCCTCCCGTAGCCTTAGTAAGGGCTCTGCTTTCCTGGGCCCCTAGAGCTNNNNNNNNNNNN
|
benign
| 1,419 |
Evaluate this variant at chromosome 1, position 6467933, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Charcot-Marie-Tooth_disease_recessive_intermediate_C', 'Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4']
|
CTGGGAGGGGTTTCCTCTCAGTGGAAGGGCTACGCCCTGGAGGAGCCTTTAACGAGATCGGAAAGGGCGGCCAACCCAGCCCCCAGTGAGGCTTGGAGTGGAGACGCGCCCGGGGCCCCTTCCTTCACCGAGGCTCTTGGGACAGGGCTCAAAGCTGCCCCTAGCCTCCTGCGTCTCAACTCACCGCCGCCACCGCCGCGCAGCCCCGCGGCCGCTGCTCCATAGCCCTCCGACGGGCGCCCAGGGGCTTCCCGGCTCCGTGCTCTCTGCCCGTCGTGGTTCCGCCTTCAGCCCCGCGCCCGCAGGGCCCGCCCCGCGCCGTCGAGAAGGGCCCGCCTGGCGGGCGGGGGGAGGCGGGGCCGCCCGAGCCCAACCGAGTCCGACCAGGTGCCCCCTCTGCTCGGCCTAGACCTGAGCTCATTAGGCGGCAGCGGACAGGCCAAGTAGAACACGCGAAGCGCTGGGCTGCCTGCTGCGACCAGGGGCACAGGATAGAGCTGCATCTCGGTCCCCACCCCGACTCTCGCCCCAACCCTGAGAACCACTTCAAGGTAGAGCCAGGGCAAGTGACTTCTCTCTCGGCCTCCGCGTCCCCAGCCATGGAGGAGGTTGGGCCAAAAGTACCGCAAGGGGCCAAGCGCAGTAGCTCAGGCCTGTAATTCTAGCACTATGGGAGGCAGAGGCGGGCGGAACACTTGGGGTCAGGAGTTCGAGACCAGCCTGACCAATATGGTGAAATGCCGTCTCTACTTAAAATACAAAAACTAGCCCGGCGTGGTGGTGCACACCTGCAGTTCCAGCTACTAGAGTGGCTGGGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGACATCACACCACTGCACTCCAACCTAGGTGACAGAGTGAGACTCTGTATTAAAAAAAAAAAAAAAGTTCCTGAAGGGACCCCCATGGAGGACCCACCTTCCCAAGAGGGCTGGCCTGAGTGTGGGAACTGGGCAGATTCAGCCCTGAATCCCCGGGGGGCACCTGGGGAGAGGCTCTGATGGTGGCTGAAGGTGGGGAAGTCTGGGGGTGTTGGTCTGGTGGCACCCCACACCCCATTACTTCCCAGTGCTTCCCATGGCAAGCTCCATCCGTGGCCCATCCGTGGCAAGTGGAGGAGCACAGGAACACAAGGAGGCCGCCCTGAACTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGG
|
CTGGGAGGGGTTTCCTCTCAGTGGAAGGGCTACGCCCTGGAGGAGCCTTTAACGAGATCGGAAAGGGCGGCCAACCCAGCCCCCAGTGAGGCTTGGAGTGGAGACGCGCCCGGGGCCCCTTCCTTCACCGAGGCTCTTGGGACAGGGCTCAAAGCTGCCCCTAGCCTCCTGCGTCTCAACTCACCGCCGCCACCGCCGCGCAGCCCCGCGGCCGCTGCTCCATAGCCCTCCGACGGGCGCCCAGGGGCTTCCCGGCTCCGTGCTCTCTGCCCGTCGTGGTTCCGCCTTCAGCCCCGCGCCCGCAGGGCCCGCCCCGCGCCGTCGAGAAGGGCCCGCCTGGCGGGCGGGGGGAGGCGGGGCCGCCCGAGCCCAACCGAGTCCGACCAGGTGCCCCCTCTGCTCGGCCTAGACCTGAGCTCATTAGGCGGCAGCGGACAGGCCAAGTAGAACACGCGAAGCGCTGGGCTGCCTGCTGCGACCAGGGGCACAGGATAGAGCTGCATCTCGGTCCCCACCCCGACTCTCGCCCCAACCCTGAGAACCACTTCAAGGTAGAGCCAGGGCAAGTGACTTCTCTCTCGGCCTCCGCGTCCCCAGCCATGGAGGAGGTTGGGCCAAAAGTACCGCAAGGGGCCAAGCGCAGTAGCTCAGGCCTGTAATTCTAGCACTATGGGAGGCAGAGGCGGGCGGAACACTTGGGGTCAGGAGTTCGAGACCAGCCTGACCAATATGGTGAAATGCCGTCTCTACTTAAAATACAAAAACTAGCCCGGCGTGGTGGTGCACACCTGCAGTTCCAGCTACTAGAGTGGCTGGGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGACATCACACCACTGCACTCCAACCTAGGTGACAGAGTGAGACTCTGTATTAAAAAAAAAAAAAAAGTTCCTGAAGGGACCCCCATGGAGGACCCACCTTCCCAAGAGGGCTGGCCTGAGTGTGGGAACTGGGCAGATTCAGCCCTGAATCCCCGGGGGGCACCTGGGGAGAGGCTCTGATGGTGGCTGAAGGTGGGGAAGTCTGGGGGTGTTGGTCTGGTGGCACCCCACACCCCATTACTTCCCAGTGCTTCCCATGGCAAGCTCCATCCGTGGCCCATCCGTGGCAAGTGGAGGAGCACAGGAACACAAGGAGGCCGCCCTGAACTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGN
|
pathogenic
| 1,452 |
Chromosome 1, position 6469122, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCG
|
CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGNNN
|
benign
| 1,478 |
Is the genetic variant on chromosome 1, position 6469122, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCG
|
CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGNNNNNN
|
benign
| 1,479 |
Clinical classification of chromosome 1, position 6469126, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
AGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGC
|
AGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCN
|
benign
| 1,480 |
Is the genetic mutation found on chromosome 1 at position 6469128, within the gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
TGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGC
|
TGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCG
|
benign
| 1,483 |
Gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) variant at chromosome position 6469129 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
GCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCA
|
GCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCAGTCCGGCAAAGCGCAAATCGGGCCCGGGCGTAGGCAGGGATCCTGCCCAGCATCCGGCTCATGCATACAGGAGGCAGTAGCTGAAGCAGGTGCCGGCACGCCCCAGGAGGCAGGCTGTCTGCTGTCTCTTGGTCAATGGCACTCTTGGGGGCCTCCCTCTGCTCAGACCTCCCTACAGGGTGGGGAGGGGACAGAGTCCTTCTTTGGCTGACGCCATTCAGAGTGGCTCTGGTCACCCTCTCTTCCCCACGGCACTCCTCAGGCCCCTTCACTGCTGCCCACCACAGCCCCCTGCGCCCAGACACTGGGCAGGGTTCAGGCTCCCTCCGCCATGACCCTCCCCAAATGCGATGCTCCCAGGCATGAGTGGGCCCCCATGCCAGTGCCCTGAGCCACCTGCCCTACCCCAGTCCAGGCCACTCACGAGGCAGTGAGCGTGGAGTTAAGCAGCAGGGTGGTCCTGATTCGGTAGAGCTGGGCCAGGGTCAGCTTCCTGTGCTGGGCAGAGACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGGCCCCCGAGGGCAGGTCTCCACACCTCTTCCTGTGGGAGCCTGCAGGTTCCCCGGCCAGGCAGCCGACTAGCCCAGGACCGCTGCCAGGGCTAGGGGCCCCTCGGCAATCCCAGCTGGGCCCAGCTTCCTGAGGGGAGCCCTGAGTCCTAATACCTGGGGCTGGAACAGCCAGGCAGAGCTCTGACAGGCTGCGGCTGGGGGCAGAGGGTGTCCCATGGGTGCCAGCCCCTGCCAGCAGCTGGAGGAGGCTGGCCTCGGACTTAGACTTGAGCAGGTGGGGCGGGCAGCTCAACAGCTGGACAGGGGTGCGGCGGCGGAGACGGGGCGAGGGTGGAGGGGAAGGAACTCGTGGGGACTCTGGGGCCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCANN
|
benign
| 1,484 |
Classify the chromosome 1 variant at position 6470357 affecting gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
CCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCTCCTCCCTGGGCGCAGCCCTTGTCTG
|
CCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTAGATGGCCTGAGGCAGCCCCAGGCTGGGCAATGCACGGTGGTTTATACCCTCTGCCCTCCTGGGGCTGGAGGCTCAGAGATGGCAGCATGTGGCAGGTGTGGCAGATCTTCCAGCTCCAGTGCCCACAACAGACCTCAGTAGCGAGCCCAGCACTCTTCCCTGCCAAGGCTGGATCTGCCCTAAGGATCCTCAGCACAGCACCCCAGGCAGCTACCACGAATGGATCAGGGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCT
|
benign
| 1,504 |
Evaluate this variant at chromosome 1, position 6470905, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
GGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCTCCTCCCTGGGCGCAGCCCTTGTCTGACTTTCCTGCCCCCACCTCATTGCCAGGCACCTGCTCCTTCTGCAAAGGCTCAGACTCAGCTGAGGGCTGTCAGAAAGAGGGGGGCAGGGTGGCCACGGGGACCAGCGCAGCCCCTACTCACGTTGATGATCACCCGCAGTTTCCTGATGTAGGAGGCCTCCGTGTGCAGCAGCTCCCACACCGCCTCCTGCTGGTGGCACTGCCGCCGGGTCAGCTTCTAGAGGGAGGGCAGGATGGGTCATTCACGAGGCCTGGAGCACCTTAGGGTGGCCGGGGAGGATAAGCAACCTGCATGCAACTCTCATTTTCCCAATGGGGACATGGAGGTCCCAAGAGGAGCAGGGTCACCCTTGACACCACATGAGTAATCACAGTTAAGACACCCAAGATCTGGGCCCTCCTCTGCCATTAAAACAGCCAAGCAGCACACCATTTTCATCTAGCCTCAGTGTCTCCAAAGTGGGCTAATGGTAACAGTGGCCTCTTTGGGGCGTCCCATGGAACATCTGATCACTGGGTCCTCCCGAGGGCTGTCCTCCTTTCGGGA
|
GGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCTCCTCCCTGGGCGCAGCCCTTGTCTGACTTTCCTGCCCCCACCTCATTGCCAGGCACCTGCTCCTTCTGCAAAGGCTCAGACTCAGCTGAGGGCTGTCAGAAAGAGGGGGGCAGGGTGGCCACGGGGACCAGCGCAGCCCCTACTCACGTTGATGATCACCCGCAGTTTCCTGATGTAGGAGGCCTCCGTGTGCAGCAGCTCCCACACCGCCTCCTGCTGGTGGCACTGCCGCCGGGTCAGCTTCTAGAGGGAGGGCAGGATGGGTCATTCACGAGGCCTGGAGCACCTTAGGGTGGCCGGGGAGGATAAGCAACCTGCATGCAACTCTCATTTTCCCAATGGGGACATGGAGGTCCCAAGAGGAGCAGGGTCACCCTTGACACCACATGAGTAATCACAGTTAAGACACCCAAGATCTGGGCCCTCCTCTGCCATTAAAACAGCCAAGCAGCACACCATTTTCATCTAGCCTCAGTGTCTCCAAAGTGGGCTAATGGTAACAGTGGCCTCTTTGGGGCGTCCCATGGAACATCTGATCACTGGGTCCTCCCGAGGGCTGTCCTCCTTTCGGG
|
benign
| 1,512 |
Evaluate if the mutation on chromosome 1 at position 6470965 in PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
CCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCACGGCACGCGCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCTCCTCCCTGGGCGCAGCCCTTGTCTGACTTTCCTGCCCCCACCTCATTGCCAGGCACCTGCTCCTTCTGCAAAGGCTCAGACTCAGCTGAGGGCTGTCAGAAAGAGGGGGGCAGGGTGGCCACGGGGACCAGCGCAGCCCCTACTCACGTTGATGATCACCCGCAGTTTCCTGATGTAGGAGGCCTCCGTGTGCAGCAGCTCCCACACCGCCTCCTGCTGGTGGCACTGCCGCCGGGTCAGCTTCTAGAGGGAGGGCAGGATGGGTCATTCACGAGGCCTGGAGCACCTTAGGGTGGCCGGGGAGGATAAGCAACCTGCATGCAACTCTCATTTTCCCAATGGGGACATGGAGGTCCCAAGAGGAGCAGGGTCACCCTTGACACCACATGAGTAATCACAGTTAAGACACCCAAGATCTGGGCCCTCCTCTGCCATTAAAACAGCCAAGCAGCACACCATTTTCATCTAGCCTCAGTGTCTCCAAAGTGGGCTAATGGTAACAGTGGCCTCTTTGGGGCGTCCCATGGAACATCTGATCACTGGGTCCTCCCGAGGGCTGTCCTCCTTTCGGGACAAGGAGGGAGCAGCACTGTGGCCCGCACTCACCTCATGCCCATCAATGAGCTCCCGCCA
|
CCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGCTGGTTCTGCAGGCAAGGTTGGGGTACATGGGACAGAATGGGTTGTGACCAGCATCTCCCTAATCTGCCTTGCCCACCCACTCACTACTCTGCACTCACCTGGGCATTGTAAATGGTGTCCACCCAGCCACGGCACAAGGCCTGGCCACTGGCCTGGAACGTGTAGGCCCCTACAGCACTGTGAAACTCATTCAGGTAGATAAGGAGGAAGGACCCTGGTTAGGGAAGGCCCAAGTCAGTGTCAGCAGAGACGATGGCCCCCACCCATCACAGCCCCTGACCAGGAACAGGGGACCAGGGCTCCTTACCAGGGTCCCGTAGCTCCCGGCACACAATCTTGTCCACGAGCAGGGGTGGCCTGATGACCCTGGTCCTCTCTGCCTTCTTCACTGCTTTGGTCACCAACAGCAGATCCGTGAAGAGGAAGCAGTACACATCCATCTGCAGTGGCAGGAGGGGGGGTGGCCAGAGAGGCCAGCAGGGTCAGGGCCAGGGACTGTGGCACCAGCCTCCCCTGGGAGCACTCGGTTTTTGTCAAACACTCCTCCCACCATGAACCTTCAAGTAAAATTAAAATGAAGAGGAAGATGATTCTCTTTCACTGAGATGTACGTTGATGACTTATCTCAATACAAGTTTACATTAAAAAGAAGACTGGTGACTTTGAAGTCACCGTGTGCAAGCTCTCAGCCTGCCCCATGCCTGAAGGGGCCATGGCACAGTAGCAAGGCTCTGGGGTTCCTGGCCCACTTGTGGAATATGGCTGCCCTCCCACCAGGAACCCATGTGGCACCAACAAATGGGCACAACTGGTGCCTTCAAGGGCTAGGACCCTACTGCTGGATTTGTGAATGGCAGGCAGAGAACTGTCATTCACTATGACAAGGTCACTGGTTCTTGAGTAACCACCGAAGGGACTGCAGAGCTGAGAACCAGTGACTGGGGCCCAGGAGGTCCCTAGGAAGGGCAGGGCACAGGGGTGGGGTGGCCCTGGAATCACCTTGCTGTCCTTCCCCTCCTTCATCCTCAGGCTCCCCTCCAGCAGCAGCTGCCGCGTCTCCTCCGGGGAGGCGCCAGGGATGGGCGCTGTCAAGTCCAGGTGCAGAAATTCCTTCAGGAGCTGGGGACGGATGGCGTGAACGTAGGGGAGGCCAGAGACTGACTCCCATCTCAGCTAGGCATCCTCAGTGAGATGCCCAGCACAGCCCCTGCCTGCCAGCTGGGCCTTCCTCTCTCCCAGCCGGCAACCCCCGCAGACACACACGCCCACCTTGTCCACTTCGTCGCTGCTGCTTTCCACCACCTCGTAGGCGTCGATGCGGCTCACCACGGCCGCCAGCCGCTGCCGCTCCTGCCGCTGCCGCATGCACGCGTTCACGTGGTGGATGAAGCGCTCCACGGAGCCGATCTAGGGGCAGGTGAGGGAGCTTCAGGTCCAGGGTCATGACGGAGCAGAGAGCCGCGCAGGGGGGACGGCTCCCGCTGGCCATCAGGGTTACCATGGCGACGACGGCCTCCTTGGCGCGCGGCTCCTCGGTCTTCCTCAGCACCGACTTGAGCAGCAGCGGGTACTTGGTGAGCCGCTGGTGGGGTTTGGCCAGCATGTCGCTCAGCTTCAGCCTCTGGCACTGTGGGTGCTTCTCCGCCCACTGCGGTGGGGGAGTGGGGGCGGGCTCAGGGCAGGCCCCGCCCCACCCGGCCCCGTCCAGGGTCCCGTCCTCCTGCGCCCCCGCCCTCACCGTGATGTAGGCCCGGAAGAGGTCGTTGTCGCGCAGCAGGCCGCGCATGTACTCCATGCAGCCCTCCTCCTCCATGCAGTAGCGGATGTAGGGCTTGAAGAGCGAGCCGAACTGGCCCGGGGCAGAACAACCACGGCGCCGGTTACCGCGCGCTCCCTGCGGGCCGGCCCGCGCCAGGCGCTGCGCAAGCGCTTCCTTACTGCACTTGGGCGACCACCCCAAGGGGGCAGCAAGCTTATGATCCCTGTTTCCTGATGAGGAAACTGAGCCTCAGCCAAAGTGACCACCCGTGGCCAGGGATCAGGGGTAGATGGTCAGGTGGAGGCTCAAACCCGGGCGACCGCCTCGTAATTCCTCACCCTTGGCCACAAGGGGTCAAGTGCGGTTACGGGCCTGGGGGAGGTTGGGGATGCTGGGCAGACCGGATCGGGCCGTGGAGGCTTTTCGGCGCCCCAGCCCTGCCTCAGTGCCCCCGCCTGCGCCCGGCCCCGCCCGTACCATCTTGAAGCCTTTGAGGAAGTCCCCGGGCTGTAGCAGCGCTCGCGTGCGCCGCGCCTTCTCCAGCACCGGCGCCATCACGCTAGCCCACAGCCTGCGGTGCAGCTGCGCGATCTCCGGGATGTTGCTGAACAGGCGCTCCGCCTCCACCTGGGCGCGGCGGGAGGTGCGGTTGGCCACGCCCCTCCGCCAGGTTAGCCCCGCCCCAGGTCCAGGTCCCGCCCTCCTTCCTGGTACCTCACCCGCCGCCGCCCCCGAATCCCAGCGCACCTCACACAGCAGCCCTGACTCTTGCAGGTTCAGGAGGCAGCACAGGAACAGCTGTGGGATCAGGGGATGGTGTGACTGGGGTCGGGAGGCTGTCTCAGCCCTAGGGCCCCACCCAGCCTCAGGCTCCCCTGCCACTCCTTCCCCTTCCCCGTTCCAGGAGGCCCCACAGCAGCCACGGATAAGAAGGCTGTACCCTTTGGCCTTCGCACCTGGGTAGTCCAGACCCTGAGGAAAGACCCAGTCCTCATAGCCCTCCCGAGGTCACACTGCCCTGGTCCCTCCTGGAGGGAAGCTCGGGGGAGACTGGCTTTGAAGCCATGCCTGGAATTCCCTTCTCCACCTCTGCCCTGGCTTAGCCTCCAGATTTCACCTCTGAGGGTGCTTCCTCCCTCCAGGAAGCTCCAAGCCCAGGGTAGGTGCTCCCCTCCCTGAGCCGAAATCCCTACACTGCCAGCTCACTCTGTCCCGTCCAGGGCGTGGCCTGCTGGGCACCCAGCACACAGCAAGTGTTGGGAAACAGCCACTGAACGAAAGTGAAAGAATGAGGCCTCACCTGTGCTAATTCAGCTGAACCTGACAAACCTGCCCGAAGCCCCCTCCCAGGTTCCTCTAGGAGGCACCTCCTCCCTGGGCGCAGCCCTTGTCTGACTTTCCTGCCCCCACCTCATTGCCAGGCACCTGCTCCTTCTGCAAAGGCTCAGACTCAGCTGAGGGCTGTCAGAAAGAGGGGGGCAGGGTGGCCACGGGGACCAGCGCAGCCCCTACTCACGTTGATGATCACCCGCAGTTTCCTGATGTAGGAGGCCTCCGTGTGCAGCAGCTCCCACACCGCCTCCTGCTGGTGGCACTGCCGCCGGGTCAGCTTCTAGAGGGAGGGCAGGATGGGTCATTCACGAGGCCTGGAGCACCTTAGGGTGGCCGGGGAGGATAAGCAACCTGCATGCAACTCTCATTTTCCCAATGGGGACATGGAGGTCCCAAGAGGAGCAGGGTCACCCTTGACACCACATGAGTAATCACAGTTAAGACACCCAAGATCTGGGCCCTCCTCTGCCATTAAAACAGCCAAGCAGCACACCATTTTCATCTAGCCTCAGTGTCTCCAAAGTGGGCTAATGGTAACAGTGGCCTCTTTGGGGCGTCCCATGGAACATCTGATCACTGGGTCCTCCCGAGGGCTGTCCTCCTTTCGGGACAAGGAGGGAGCAGCACTGTGGCCCGCACTCACCTCATGCCCATCAATGAGCTCCCGCCANNNNNNNNNNNNNNN
|
benign
| 1,514 |
Is the variant located on chromosome 1 at position 7663346, gene CAMTA1 (calmodulin binding transcription activator 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
TGGTCCACCACCTCTATCCTGAGTCTCCACAAGAAGCTCACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAGCAGTGAGAGGGCTGCCCTCAGGGAGGGCCTGGGTCCTACCCCTTGGCCCCACCCAGGTCCCCTCTGCACCCACGGGCTCTGACAGCCCCCCTGCCTCTCTCTTCACAGTCCATGGCATCAAGTGGACCTGCAGCAATGGGAACAGCAGCTCAGGCTTCTCGGTGGAACAGCTGGTGCAGCAGATCCTCGACAGCCACCAGACCAAGCCCCAGCCGCGGACCCACAACTGCCTCTGCACCGGCAGCCTGGGTGAGCCGGGGCTCCCGGGGCAGGCGGGCGCCACGGGGACAGAGGGGCCCTACCAGGCAGCCGTCATGGCTGTCCTCTGTGGGAGTAGCCATGACATCTAGTGAGGGAGGAGGGGGACAGTCAGGGACTGGGCGACACCACCGCACCCAGCACAGACACAAGGCAGGCCTTCCGCCTCGTCCTGCCCTGCAACTGGCTGGCAGTCCGCTCTGGGCAGGAGGGAGCAGTGTCCAGAGGGACAGCTTCCTCCGTGGGGCAAGAACTGGGGGCAGCAGAGTTGGGGAAGCGAGGAGCTCTGGGGCTCGGGGCCTCTCTGTTCAGGCCCACACTCTTGGGCATCCTCTGCCAGAGGGCACTGGGGTCTTGAGGGAGACGTGCCCTGCGTCAGTGACACCACGCAGGCGCAACCTCTTTCTTTAACCTCTGTCTCCTCCAAGAACATGAAGCGTCCCGCGCTCTCCTTCCTAATGTGTCTGTTTTTCTGATAATGGTATTTGCTCTTTGAAATGTGTGTTCTCCACTCCCCAGGCTGACTTAATTAGATAGTCCCATTAGAGGGTCGTGTCACTTCTCTACGCAGTCTTGGTGCATTGAGGAGTCTTGGTGGTGAGGCCATAACAGGATCAGGGAGAATTTGCCCTTTCATCAAAAGTAAAGTGACCCTTATCAGATGAAATGAAAATGGTGAAAATATCCAATGGGAGGGAGAGAAAAGCCGTCCTGGCTGCCGGGGCTGGAGGAGCTGCCAGGGAGGCTTTGCCAAGCTCAGAAACGTTCGGCTCCTGAGGCTTGTACGTCTGAAATGAGGAGCAAGGGCTCTGTCCCTACTTAGGACCTAGAAGGATTTTTGTACCCCAGAGAGCTGAGGGTAGGCCTGGGCTTAGGTACCTTTCCGCCTCTGGAGCAGGGTCGAGAACCCTCTTTGGTCCTGGGGCCTGAGAGCTGGTCCCGAGACTGCATTTCCATCACCTCCCCATTGACCTCTGGTTGCCAGGCCCCAGGGGTGGCTCCTCACTGGGGCATGGCCTGAGCAGCTGTGGGAAGTTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAAC
|
TGGTCCACCACCTCTATCCTGAGTCTCCACAAGAAGCTCACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAGCAGTGAGAGGGCTGCCCTCAGGGAGGGCCTGGGTCCTACCCCTTGGCCCCACCCAGGTCCCCTCTGCACCCACGGGCTCTGACAGCCCCCCTGCCTCTCTCTTCACAGTCCATGGCATCAAGTGGACCTGCAGCAATGGGAACAGCAGCTCAGGCTTCTCGGTGGAACAGCTGGTGCAGCAGATCCTCGACAGCCACCAGACCAAGCCCCAGCCGCGGACCCACAACTGCCTCTGCACCGGCAGCCTGGGTGAGCCGGGGCTCCCGGGGCAGGCGGGCGCCACGGGGACAGAGGGGCCCTACCAGGCAGCCGTCATGGCTGTCCTCTGTGGGAGTAGCCATGACATCTAGTGAGGGAGGAGGGGGACAGTCAGGGACTGGGCGACACCACCGCACCCAGCACAGACACAAGGCAGGCCTTCCGCCTCGTCCTGCCCTGCAACTGGCTGGCAGTCCGCTCTGGGCAGGAGGGAGCAGTGTCCAGAGGGACAGCTTCCTCCGTGGGGCAAGAACTGGGGGCAGCAGAGTTGGGGAAGCGAGGAGCTCTGGGGCTCGGGGCCTCTCTGTTCAGGCCCACACTCTTGGGCATCCTCTGCCAGAGGGCACTGGGGTCTTGAGGGAGACGTGCCCTGCGTCAGTGACACCACGCAGGCGCAACCTCTTTCTTTAACCTCTGTCTCCTCCAAGAACATGAAGCGTCCCGCGCTCTCCTTCCTAATGTGTCTGTTTTTCTGATAATGGTATTTGCTCTTTGAAATGTGTGTTCTCCACTCCCCAGGCTGACTTAATTAGATAGTCCCATTAGAGGGTCGTGTCACTTCTCTACGCAGTCTTGGTGCATTGAGGAGTCTTGGTGGTGAGGCCATAACAGGATCAGGGAGAATTTGCCCTTTCATCAAAAGTAAAGTGACCCTTATCAGATGAAATGAAAATGGTGAAAATATCCAATGGGAGGGAGAGAAAAGCCGTCCTGGCTGCCGGGGCTGGAGGAGCTGCCAGGGAGGCTTTGCCAAGCTCAGAAACGTTCGGCTCCTGAGGCTTGTACGTCTGAAATGAGGAGCAAGGGCTCTGTCCCTACTTAGGACCTAGAAGGATTTTTGTACCCCAGAGAGCTGAGGGTAGGCCTGGGCTTAGGTACCTTTCCGCCTCTGGAGCAGGGTCGAGAACCCTCTTTGGTCCTGGGGCCTGAGAGCTGGTCCCGAGACTGCATTTCCATCACCTCCCCATTGACCTCTGGTTGCCAGGCCCCAGGGGTGGCTCCTCACTGGGGCATGGCCTGAGCAGCTGTGGGAAGTTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAACN
|
benign
| 1,624 |
Assess the variant on chromosome 1, position 7663384, impacting CAMTA1 (calmodulin binding transcription activator 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities']
|
CACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAGCAGTGAGAGGGCTGCCCTCAGGGAGGGCCTGGGTCCTACCCCTTGGCCCCACCCAGGTCCCCTCTGCACCCACGGGCTCTGACAGCCCCCCTGCCTCTCTCTTCACAGTCCATGGCATCAAGTGGACCTGCAGCAATGGGAACAGCAGCTCAGGCTTCTCGGTGGAACAGCTGGTGCAGCAGATCCTCGACAGCCACCAGACCAAGCCCCAGCCGCGGACCCACAACTGCCTCTGCACCGGCAGCCTGGGTGAGCCGGGGCTCCCGGGGCAGGCGGGCGCCACGGGGACAGAGGGGCCCTACCAGGCAGCCGTCATGGCTGTCCTCTGTGGGAGTAGCCATGACATCTAGTGAGGGAGGAGGGGGACAGTCAGGGACTGGGCGACACCACCGCACCCAGCACAGACACAAGGCAGGCCTTCCGCCTCGTCCTGCCCTGCAACTGGCTGGCAGTCCGCTCTGGGCAGGAGGGAGCAGTGTCCAGAGGGACAGCTTCCTCCGTGGGGCAAGAACTGGGGGCAGCAGAGTTGGGGAAGCGAGGAGCTCTGGGGCTCGGGGCCTCTCTGTTCAGGCCCACACTCTTGGGCATCCTCTGCCAGAGGGCACTGGGGTCTTGAGGGAGACGTGCCCTGCGTCAGTGACACCACGCAGGCGCAACCTCTTTCTTTAACCTCTGTCTCCTCCAAGAACATGAAGCGTCCCGCGCTCTCCTTCCTAATGTGTCTGTTTTTCTGATAATGGTATTTGCTCTTTGAAATGTGTGTTCTCCACTCCCCAGGCTGACTTAATTAGATAGTCCCATTAGAGGGTCGTGTCACTTCTCTACGCAGTCTTGGTGCATTGAGGAGTCTTGGTGGTGAGGCCATAACAGGATCAGGGAGAATTTGCCCTTTCATCAAAAGTAAAGTGACCCTTATCAGATGAAATGAAAATGGTGAAAATATCCAATGGGAGGGAGAGAAAAGCCGTCCTGGCTGCCGGGGCTGGAGGAGCTGCCAGGGAGGCTTTGCCAAGCTCAGAAACGTTCGGCTCCTGAGGCTTGTACGTCTGAAATGAGGAGCAAGGGCTCTGTCCCTACTTAGGACCTAGAAGGATTTTTGTACCCCAGAGAGCTGAGGGTAGGCCTGGGCTTAGGTACCTTTCCGCCTCTGGAGCAGGGTCGAGAACCCTCTTTGGTCCTGGGGCCTGAGAGCTGGTCCCGAGACTGCATTTCCATCACCTCCCCATTGACCTCTGGTTGCCAGGCCCCAGGGGTGGCTCCTCACTGGGGCATGGCCTGAGCAGCTGTGGGAAGTTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAACTTCACTGGGGCAAGTAGCTTTAAAGTCAGGGGGTCTTT
|
CACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAGCAGTGAGAGGGCTGCCCTCAGGGAGGGCCTGGGTCCTACCCCTTGGCCCCACCCAGGTCCCCTCTGCACCCACGGGCTCTGACAGCCCCCCTGCCTCTCTCTTCACAGTCCATGGCATCAAGTGGACCTGCAGCAATGGGAACAGCAGCTCAGGCTTCTCGGTGGAACAGCTGGTGCAGCAGATCCTCGACAGCCACCAGACCAAGCCCCAGCCGCGGACCCACAACTGCCTCTGCACCGGCAGCCTGGGTGAGCCGGGGCTCCCGGGGCAGGCGGGCGCCACGGGGACAGAGGGGCCCTACCAGGCAGCCGTCATGGCTGTCCTCTGTGGGAGTAGCCATGACATCTAGTGAGGGAGGAGGGGGACAGTCAGGGACTGGGCGACACCACCGCACCCAGCACAGACACAAGGCAGGCCTTCCGCCTCGTCCTGCCCTGCAACTGGCTGGCAGTCCGCTCTGGGCAGGAGGGAGCAGTGTCCAGAGGGACAGCTTCCTCCGTGGGGCAAGAACTGGGGGCAGCAGAGTTGGGGAAGCGAGGAGCTCTGGGGCTCGGGGCCTCTCTGTTCAGGCCCACACTCTTGGGCATCCTCTGCCAGAGGGCACTGGGGTCTTGAGGGAGACGTGCCCTGCGTCAGTGACACCACGCAGGCGCAACCTCTTTCTTTAACCTCTGTCTCCTCCAAGAACATGAAGCGTCCCGCGCTCTCCTTCCTAATGTGTCTGTTTTTCTGATAATGGTATTTGCTCTTTGAAATGTGTGTTCTCCACTCCCCAGGCTGACTTAATTAGATAGTCCCATTAGAGGGTCGTGTCACTTCTCTACGCAGTCTTGGTGCATTGAGGAGTCTTGGTGGTGAGGCCATAACAGGATCAGGGAGAATTTGCCCTTTCATCAAAAGTAAAGTGACCCTTATCAGATGAAATGAAAATGGTGAAAATATCCAATGGGAGGGAGAGAAAAGCCGTCCTGGCTGCCGGGGCTGGAGGAGCTGCCAGGGAGGCTTTGCCAAGCTCAGAAACGTTCGGCTCCTGAGGCTTGTACGTCTGAAATGAGGAGCAAGGGCTCTGTCCCTACTTAGGACCTAGAAGGATTTTTGTACCCCAGAGAGCTGAGGGTAGGCCTGGGCTTAGGTACCTTTCCGCCTCTGGAGCAGGGTCGAGAACCCTCTTTGGTCCTGGGGCCTGAGAGCTGGTCCCGAGACTGCATTTCCATCACCTCCCCATTGACCTCTGGTTGCCAGGCCCCAGGGGTGGCTCCTCACTGGGGCATGGCCTGAGCAGCTGTGGGAAGTTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAACTTCACTGGGGCAAGTAGCTTTAAAGTCAGGGGGTCTTTN
|
pathogenic
| 1,625 |
Clinically, how would you classify the variant at chromosome 1, position 7664959, gene CAMTA1 (calmodulin binding transcription activator 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities']
|
TTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAACTTCACTGGGGCAAGTAGCTTTAAAGTCAGGGGGTCTTTGGCCGGGTGCCATGGCTCAAACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGAGGATCATCTGAGCCAAGGAGTTCCAAACCAACCTGGGCAACGTAGTGAGAACTGGTTTCAACAAAATATTAAAAAAATAAGCCAGGTGTGGTGGGGCCTGCCTATGGTCCCAGCTATTCTGGAGGCTGAGTCCGGAGGAGCACTTGAGCCCAAGAGGTTGAGGCTGCAGTGAGCTGTGGTTGTACCACTGCACTCCAGTCCGGATGACAGAGTGAAACCCTGTCTCAAAAAAAAAGAGAGAAAGTCAGGGTATCCTTGGAAGCAAAATGCTCCCCCAGCTCCAGCCAGAGTCGTCTGCCGTTTCTCAATTTATGTGTTGAGTCCATCTATGTTTTGCTTTGCTTTTTTTTTGAAAAGGGGTCCCAGGGTTGCTTAAAAAAATTCAAAAGTCACCATTGGCCGGGCTCAGTGGCTCATGCCCATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACTGGGCGTAGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGTCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAGAATGAAACTGTCTTAAAAAAAAAAAAAAGAAAGAAAAAGTCACCATCATAGATCGTCTACATCCACTGCCTTCACCCTACTTCTCTAAGCCAAACAAAACCAAAAACCAAAAATCTCTCTCAAAACTGAACAGGGCACAGCTTCTGAAGAGTCATCCTGAAGATCCTTCTTAAGTAAACCTGGCCTTCTGCAAAATTCCACACAGGTCATAGGACGCAGGATTCCAACGTGCACCCTCCCCCAGCCCCCAGGCCGCCTCAGCTCCCGGGGATCTGACTTTGAGAACCACTACTCCAAAGACCAAAGCATCTTGCCTGAGGGACACAAGCAGTAGAGGAATCTCTGCTTTTTCTGTAGAGCAGAATAGCACAGGAAGGGGACAGAGTGGCCCAGGCTTTCCCTAAATAACCTAGTGCAGACAAGCACGTGCATCCTGACCTCTACCCAGCCCATCTGGGTGCTCAGGGACCAGCACATGCACCACGGGCCCTGATTGGACACTGCCTGGGAGGTGGCTGCCCACGGCCCACTCGGCTGGAGAACACCAAAGAAGGGGGCTCATACTTCCTCACCCTTCTTCCCCGCTGGCAAAGCTAAGAAAATCTGTGTACAGACACCCCCAGCTCTCCCATCCCCGATAGGAAGAGCCCGGAAGGATCAGACTGGGCTTCCTCTTGGTATAGGTTGGTGTGACCGTGTTTCTGACCCCCCTGCTGTTGTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTGAGAAGGAATTTCACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCA
|
TTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGGACCCCAGCCGCTGTGGGGCAGGTCCACCACGGTCCTAGCTCTGACTCTCTTTTGTGTGTGCATGTGTGTGTGCACATGTGTGCCTGCGTGTGCGTGCGCGTGTTGTGTTCCGATCTCCGCAGGAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGCGCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCACTCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGCTCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGCACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTGTCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGTGTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTCATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCACCACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCACAAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTGTCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACCATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGTGGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGGAGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAGCAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTCACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACCCTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGCCAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGACGCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGCACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGTCACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAACTTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGGAGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAGCCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTGGTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTCAGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTCATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGCACGGCGCTCTCACAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGCCTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCCAGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACCCTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGGTCTTACCCAGAGGTAAGCTGCCGCCGCTGCCACCACCTGTCACCTCCCCTCCCACCCACCTCGCCAGCCCCTGCGCCACCCTGCAGCTAAGGGATGCCTGTGGCTGCCCTTCAGAGGAAGCTCTGGACCACAAAGATGATGCTTTCCCCTCCTTGTGTCCCCACGGCGCTTGAACACCTCCGTCTTTCACGCAGTGGTTCTCAAACTTCACTGGGGCAAGTAGCTTTAAAGTCAGGGGGTCTTTGGCCGGGTGCCATGGCTCAAACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGAGGATCATCTGAGCCAAGGAGTTCCAAACCAACCTGGGCAACGTAGTGAGAACTGGTTTCAACAAAATATTAAAAAAATAAGCCAGGTGTGGTGGGGCCTGCCTATGGTCCCAGCTATTCTGGAGGCTGAGTCCGGAGGAGCACTTGAGCCCAAGAGGTTGAGGCTGCAGTGAGCTGTGGTTGTACCACTGCACTCCAGTCCGGATGACAGAGTGAAACCCTGTCTCAAAAAAAAAGAGAGAAAGTCAGGGTATCCTTGGAAGCAAAATGCTCCCCCAGCTCCAGCCAGAGTCGTCTGCCGTTTCTCAATTTATGTGTTGAGTCCATCTATGTTTTGCTTTGCTTTTTTTTTGAAAAGGGGTCCCAGGGTTGCTTAAAAAAATTCAAAAGTCACCATTGGCCGGGCTCAGTGGCTCATGCCCATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACTGGGCGTAGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGTCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAGAATGAAACTGTCTTAAAAAAAAAAAAAAGAAAGAAAAAGTCACCATCATAGATCGTCTACATCCACTGCCTTCACCCTACTTCTCTAAGCCAAACAAAACCAAAAACCAAAAATCTCTCTCAAAACTGAACAGGGCACAGCTTCTGAAGAGTCATCCTGAAGATCCTTCTTAAGTAAACCTGGCCTTCTGCAAAATTCCACACAGGTCATAGGACGCAGGATTCCAACGTGCACCCTCCCCCAGCCCCCAGGCCGCCTCAGCTCCCGGGGATCTGACTTTGAGAACCACTACTCCAAAGACCAAAGCATCTTGCCTGAGGGACACAAGCAGTAGAGGAATCTCTGCTTTTTCTGTAGAGCAGAATAGCACAGGAAGGGGACAGAGTGGCCCAGGCTTTCCCTAAATAACCTAGTGCAGACAAGCACGTGCATCCTGACCTCTACCCAGCCCATCTGGGTGCTCAGGGACCAGCACATGCACCACGGGCCCTGATTGGACACTGCCTGGGAGGTGGCTGCCCACGGCCCACTCGGCTGGAGAACACCAAAGAAGGGGGCTCATACTTCCTCACCCTTCTTCCCCGCTGGCAAAGCTAAGAAAATCTGTGTACAGACACCCCCAGCTCTCCCATCCCCGATAGGAAGAGCCCGGAAGGATCAGACTGGGCTTCCTCTTGGTATAGGTTGGTGTGACCGTGTTTCTGACCCCCCTGCTGTTGTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTGAGAAGGAATTTCACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCANNNN
|
pathogenic
| 1,653 |
Mutation at chromosome 1, position 7751268, within CAMTA1 (calmodulin binding transcription activator 1): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities']
|
TCTATCACCTTGTCATAATCCAGGACTTGCCTCAATTTCTGATATGGGTTGCCGTTTCCTCAAGCTTCTCTAGGATTAAGCCCTATTAATGGGGGTGGGGGGACGTCTTTGGCTTCGAGCCAGTTGAGTTCATGATCCCAGAAAAGGAAGGTTTATTGTGCAAACGCTGACACCACAGTGCCTGTAGCTCTATAGCAGGGAGCCGCACTGGCTTCTGTTTGGTGAGCAGGCTTCCTGGGAGCACAAGTGATACACAGAATGAAGGTTTCAAGTCTGTGATTACAACAGGTATTGATTCCAAAATATGAGTTTGGTTTTTTAAAAAAAAAAACCCTCCCCAGAAACTGTCATCTACAGCTAGGAAGACAGAAGGCATTATTTTTGGAAAGAGTAACAACTATAAAACAAATATTTTGGAAGATGGAAGGCATTAATATAGCCAGGTTGCCTTTTTTTTTTTTCTTGGTTGGGAGTTTTATTGATTCTGGTTTTTAATTTCATTATATTCAGCAATGTAACATTAATCTTGTATTTTCTGTTTTTCCCCCAAGCTGACATGGATAGCCTTGAAGGTAATGATACACCCAAGCCCTCTCACAAACCATTCCACCAGAGTCACAAACTTCACACCCATCACCAGCTACAGGGAGGGCCATTAAGATGGCACAGTCATGGAGTAAACATATCCCCCTTGCCAGGCCACCTAAGCACAGTTCCTCTGTCGTCTGGGGACCACGTGGTTATTCAGCTGGAGTGGGTTTCGACATTAATAACTGGACATTTTTTGGCTGGTGTTAATCCATCTAAGCCAGTTCCTGTGAGCCCTGTGGCCACTAAGTAAATACCCTTTTTCCCAAAGCGCTTCACTGTGGCCCGATGGGTCTGAGTGTGTAGTGTGCACAGGTGGAGACGATGGAAACCACAGGGGCTCTGTAGTCTGCAGCATTCTTGTCTTCAAAGACTTTCAGACCAGTGAAAAGGTAAAGCAGGTCAGATAAGACCAAAGAAGGTTCTTGCAGAAGGGTCCTGGTTCTTGGACAATTCTGAGAAGTCAGTTTCCCTCCCTCATTTCACCTCCTCATACATCCAGAGATACAGTTAGGCAGATACAGGGATTTTCTGGGGAATATTTTTCCTTGCGACGGTAAGTTGCCGTCTTATAAGCAAAGGGCTTCATTGCAACTTCTCATCCCCAGAGTCATACTCTGTTTGATTAGAAATTTGGACGTAGCATTTTAAGACCATGGAGAGCTCTGTATTTTTAGTGCCTAGAGACTGATGTTGAGAATTCACCCTGGGCCTTCGTCCCTCACTTCTGTAGCTCTGCAGCGGGCTGCGTGGAGGACTCCTGGCACTGCCTCCTGGGTCGTCCGCAGCTCTGTGACAGCCGTCCAGGTTTCACGGCTTCACCACCGTGTTGGTCTTACGAGTGTTCATCTTTTACAGGTTAAAATGGCTTAAAGGTGTCAGCGTTTCATGATAAGCCTTGTATTTGGGACCTTGCAACTCAGTCAGAAACTTGTCGTGTGGAATGATAGTTAAAAATCAGAGGCTGAATGCTAAGTAGATTTGTGTATGGTGGGAATTGGAAGGCATAAAAAAATTATGTTAGTGTTTCAAAACTGGATAGAAAATATTAATCCGAAGCATTTAAAATTTTACTGTCGAAATCTGTTTTTAGATTCATAAACGTCTAAGGGTATTGCTATTAAAATTTTTCTCCAAGAAGGGCAAGATATTTTGATATTTTAGGGAAAAAATATATGTCTGAAGGCAACCCTTAAAGTAATATTTTACATTTTGGAAAGGTAGGTGTAAAGATTCCTCATTTGCCTCTTTTGTGATTAAACCCCGGACAGAGAATGTGATAATAGAGGGGAAAAGCATTTTCTCTTCTTCCCTTCCCGGTAAGCTCGAAGGACGCTGAGCCCGTGCAGCCCCTGTTGTTACTGTGTCGCTTGTTCTTGTTTCCCCTGCAGTACGCACTTTATAAAAAGATGACACAGGCTGCCATCCTTATCCAGAGCAAATTCCGAAGTTACTATGAACAAAAAAAATTCCAGCAGAGCCGACGGGCTGCTGTGCTCATCCAAAAGTACTACCGAAGTTATAAGAAATGTGGCAAAAGACGGCAGGCTCGCCGGACGGCTGTGATTGTACAACAGAAACTCAGGTGGGTGGAGAAGAGCTCATGGAGGTAAAGCTCCCTAGGGAAGAGAACTCTGACTTCTTTGAAAGACTTGTCCTGGGCTGACATTGGAGTCTGGGGTGGGCCTAAAGCATTGGCAGTCACTGTGTTCCAGAACGTTTTAGGCATGGTGGCTGATAAGTACACCTGTGCTGAGTCTGGTTTTGAATATTTAGCTCTTTCTCTCCACCTCCCACCCAATTATTTTGATATTGCCACCCAATTTTACCTTATATCAGAATTTGGCAGCACCAGTTTCTACTCAGAAAGTTACCACTCAATTATAGTAGTTTAACCCATTTCCTGTTTAGGAAAAAAAAAAAAAAGTACAGCCCGCTGCCAGCACTCATGTAATTTTACATAAACATGCTCTTTGAGGCTGAAGGAAATCTGATTTTCAATGTGAAAATAAAATATGAAAACTATTCTTGGAGTTATTTCTAAACAGAACTTGTTCCTAATCCTAATGTAACTGAAACGTATATGATGCTACATTCCGATTAGAGACAAGGCTATTCTTGACACAAATGGGAAATGAGTGAAATTGTAGAATTACTGCATGTGAGACCTTGGGAGAGTAATTAGGGTTAAGCTGTTCCATTTTAGAGACTGTAATAAAAATGTTGAGCCAAGTAAAATATATTGATCAGTACATTTACAAAATAGCCCAAAGAGTGTATCAACTCCGGTGAATCACCTTGTAAACTAAGAAAGCCTCTCTAATGCCAGAATGCCTTTTGTGGCAAAATGAGCTTATAATGAATTGTGGAAGAATATTTAAGTGACATTTTATTTTCAGTCTTTGTATAGTCTGTCTTGAAGCTGAGAGCGCCTATACACACCCTCCTTTCTCCTCTAGTGATGCCCGGACTCGATACTATGGGAACAGCATACGCACTCATCCCCCTTCAGATTGTATACATCTTTAACATATGCTGTTGGCTTTGCTACACGAACTGCTTAATTCAGAGTCCTCTGTCACTGCTGACCAGTTTTCCATATTGGGCTTTACTGTAACCTTCTTGTGACAATAATATTCTGACTTTTTCAGGAGCAGTTTGCTAACCAAAAAGCAGGATCAAGCTGCTCGAAAAATAATGAGGTTTCTTCGCCGCTGTCGCCACAGGTACACTAGTCCTTGTTTATACATTCTGCTCAGGGAGAATGATGAAGCAACCCTGACCTTCTTAACCCTCACTAACTCCTATGTAAAGCTAATCCCCCTGCAGATAATCAGGGCAGACGTCCCAAATTACAATAGGGCGGTAGAGCTCTTTAACTAGGGATCAGGTTGCTACCCTTGGAGTGCTGGTAACCATGTCAGACGATGCTGTTTGAACAATGGAGATTCATGCCCGTGTTTTTCTGTTTTAATTTGGGTGTGAGGTCAACTTAGTCGGACTAGCTTTTAATTCTAAGTTTCTCTTTAACCTGTGATTGATATGCCACATTGCAGTATGTTCTTTGCTCTAATCCTTTACTATGCTAGCGCGTGTCCAAACAGAAAACAGTTTCTAGTCTCAAGGAAGGGAAAGAAAACCACGAATTCCAAACAAGTTTTCTGATGTAGAATTTCCACCAGATAGCTGGTGCCCTCTGCTGGTCATGTAATCGCCAACATGCTCTATTATTAAACTATCAATTAAAGCCGGTCCGTGATGAGGAACAGGAGAGATCACTGGAATGCAGCTGTTCAGGAAAAGAAAGACATCTGAGACTCTGGGCACATCTTCAATTAGTAGGAAATGGGGTCCTGTGACCCCAGCATTCTGTGGGATGCAGCATCTTCTCATGGAGCTAAGCCAGAGGAATTTCTCTTTGTTCCTCAAATTTGAGATTTCTTTATGAAGACTAGCGTCTCTACTTAGATTTCAGAGGGCTGGTGAAAGTGGTTTGTGTTCTTTATCC
|
TCTATCACCTTGTCATAATCCAGGACTTGCCTCAATTTCTGATATGGGTTGCCGTTTCCTCAAGCTTCTCTAGGATTAAGCCCTATTAATGGGGGTGGGGGGACGTCTTTGGCTTCGAGCCAGTTGAGTTCATGATCCCAGAAAAGGAAGGTTTATTGTGCAAACGCTGACACCACAGTGCCTGTAGCTCTATAGCAGGGAGCCGCACTGGCTTCTGTTTGGTGAGCAGGCTTCCTGGGAGCACAAGTGATACACAGAATGAAGGTTTCAAGTCTGTGATTACAACAGGTATTGATTCCAAAATATGAGTTTGGTTTTTTAAAAAAAAAAACCCTCCCCAGAAACTGTCATCTACAGCTAGGAAGACAGAAGGCATTATTTTTGGAAAGAGTAACAACTATAAAACAAATATTTTGGAAGATGGAAGGCATTAATATAGCCAGGTTGCCTTTTTTTTTTTTCTTGGTTGGGAGTTTTATTGATTCTGGTTTTTAATTTCATTATATTCAGCAATGTAACATTAATCTTGTATTTTCTGTTTTTCCCCCAAGCTGACATGGATAGCCTTGAAGGTAATGATACACCCAAGCCCTCTCACAAACCATTCCACCAGAGTCACAAACTTCACACCCATCACCAGCTACAGGGAGGGCCATTAAGATGGCACAGTCATGGAGTAAACATATCCCCCTTGCCAGGCCACCTAAGCACAGTTCCTCTGTCGTCTGGGGACCACGTGGTTATTCAGCTGGAGTGGGTTTCGACATTAATAACTGGACATTTTTTGGCTGGTGTTAATCCATCTAAGCCAGTTCCTGTGAGCCCTGTGGCCACTAAGTAAATACCCTTTTTCCCAAAGCGCTTCACTGTGGCCCGATGGGTCTGAGTGTGTAGTGTGCACAGGTGGAGACGATGGAAACCACAGGGGCTCTGTAGTCTGCAGCATTCTTGTCTTCAAAGACTTTCAGACCAGTGAAAAGGTAAAGCAGGTCAGATAAGACCAAAGAAGGTTCTTGCAGAAGGGTCCTGGTTCTTGGACAATTCTGAGAAGTCAGTTTCCCTCCCTCATTTCACCTCCTCATACATCCAGAGATACAGTTAGGCAGATACAGGGATTTTCTGGGGAATATTTTTCCTTGCGACGGTAAGTTGCCGTCTTATAAGCAAAGGGCTTCATTGCAACTTCTCATCCCCAGAGTCATACTCTGTTTGATTAGAAATTTGGACGTAGCATTTTAAGACCATGGAGAGCTCTGTATTTTTAGTGCCTAGAGACTGATGTTGAGAATTCACCCTGGGCCTTCGTCCCTCACTTCTGTAGCTCTGCAGCGGGCTGCGTGGAGGACTCCTGGCACTGCCTCCTGGGTCGTCCGCAGCTCTGTGACAGCCGTCCAGGTTTCACGGCTTCACCACCGTGTTGGTCTTACGAGTGTTCATCTTTTACAGGTTAAAATGGCTTAAAGGTGTCAGCGTTTCATGATAAGCCTTGTATTTGGGACCTTGCAACTCAGTCAGAAACTTGTCGTGTGGAATGATAGTTAAAAATCAGAGGCTGAATGCTAAGTAGATTTGTGTATGGTGGGAATTGGAAGGCATAAAAAAATTATGTTAGTGTTTCAAAACTGGATAGAAAATATTAATCCGAAGCATTTAAAATTTTACTGTCGAAATCTGTTTTTAGATTCATAAACGTCTAAGGGTATTGCTATTAAAATTTTTCTCCAAGAAGGGCAAGATATTTTGATATTTTAGGGAAAAAATATATGTCTGAAGGCAACCCTTAAAGTAATATTTTACATTTTGGAAAGGTAGGTGTAAAGATTCCTCATTTGCCTCTTTTGTGATTAAACCCCGGACAGAGAATGTGATAATAGAGGGGAAAAGCATTTTCTCTTCTTCCCTTCCCGGTAAGCTCGAAGGACGCTGAGCCCGTGCAGCCCCTGTTGTTACTGTGTCGCTTGTTCTTGTTTCCCCTGCAGTACGCACTTTATAAAAAGATGACACAGGCTGCCATCCTTATCCAGAGCAAATTCCGAAGTTACTATGAACAAAAAAATTCCAGCAGAGCCGACGGGCTGCTGTGCTCATCCAAAAGTACTACCGAAGTTATAAGAAATGTGGCAAAAGACGGCAGGCTCGCCGGACGGCTGTGATTGTACAACAGAAACTCAGGTGGGTGGAGAAGAGCTCATGGAGGTAAAGCTCCCTAGGGAAGAGAACTCTGACTTCTTTGAAAGACTTGTCCTGGGCTGACATTGGAGTCTGGGGTGGGCCTAAAGCATTGGCAGTCACTGTGTTCCAGAACGTTTTAGGCATGGTGGCTGATAAGTACACCTGTGCTGAGTCTGGTTTTGAATATTTAGCTCTTTCTCTCCACCTCCCACCCAATTATTTTGATATTGCCACCCAATTTTACCTTATATCAGAATTTGGCAGCACCAGTTTCTACTCAGAAAGTTACCACTCAATTATAGTAGTTTAACCCATTTCCTGTTTAGGAAAAAAAAAAAAAAGTACAGCCCGCTGCCAGCACTCATGTAATTTTACATAAACATGCTCTTTGAGGCTGAAGGAAATCTGATTTTCAATGTGAAAATAAAATATGAAAACTATTCTTGGAGTTATTTCTAAACAGAACTTGTTCCTAATCCTAATGTAACTGAAACGTATATGATGCTACATTCCGATTAGAGACAAGGCTATTCTTGACACAAATGGGAAATGAGTGAAATTGTAGAATTACTGCATGTGAGACCTTGGGAGAGTAATTAGGGTTAAGCTGTTCCATTTTAGAGACTGTAATAAAAATGTTGAGCCAAGTAAAATATATTGATCAGTACATTTACAAAATAGCCCAAAGAGTGTATCAACTCCGGTGAATCACCTTGTAAACTAAGAAAGCCTCTCTAATGCCAGAATGCCTTTTGTGGCAAAATGAGCTTATAATGAATTGTGGAAGAATATTTAAGTGACATTTTATTTTCAGTCTTTGTATAGTCTGTCTTGAAGCTGAGAGCGCCTATACACACCCTCCTTTCTCCTCTAGTGATGCCCGGACTCGATACTATGGGAACAGCATACGCACTCATCCCCCTTCAGATTGTATACATCTTTAACATATGCTGTTGGCTTTGCTACACGAACTGCTTAATTCAGAGTCCTCTGTCACTGCTGACCAGTTTTCCATATTGGGCTTTACTGTAACCTTCTTGTGACAATAATATTCTGACTTTTTCAGGAGCAGTTTGCTAACCAAAAAGCAGGATCAAGCTGCTCGAAAAATAATGAGGTTTCTTCGCCGCTGTCGCCACAGGTACACTAGTCCTTGTTTATACATTCTGCTCAGGGAGAATGATGAAGCAACCCTGACCTTCTTAACCCTCACTAACTCCTATGTAAAGCTAATCCCCCTGCAGATAATCAGGGCAGACGTCCCAAATTACAATAGGGCGGTAGAGCTCTTTAACTAGGGATCAGGTTGCTACCCTTGGAGTGCTGGTAACCATGTCAGACGATGCTGTTTGAACAATGGAGATTCATGCCCGTGTTTTTCTGTTTTAATTTGGGTGTGAGGTCAACTTAGTCGGACTAGCTTTTAATTCTAAGTTTCTCTTTAACCTGTGATTGATATGCCACATTGCAGTATGTTCTTTGCTCTAATCCTTTACTATGCTAGCGCGTGTCCAAACAGAAAACAGTTTCTAGTCTCAAGGAAGGGAAAGAAAACCACGAATTCCAAACAAGTTTTCTGATGTAGAATTTCCACCAGATAGCTGGTGCCCTCTGCTGGTCATGTAATCGCCAACATGCTCTATTATTAAACTATCAATTAAAGCCGGTCCGTGATGAGGAACAGGAGAGATCACTGGAATGCAGCTGTTCAGGAAAAGAAAGACATCTGAGACTCTGGGCACATCTTCAATTAGTAGGAAATGGGGTCCTGTGACCCCAGCATTCTGTGGGATGCAGCATCTTCTCATGGAGCTAAGCCAGAGGAATTTCTCTTTGTTCCTCAAATTTGAGATTTCTTTATGAAGACTAGCGTCTCTACTTAGATTTCAGAGGGCTGGTGAAAGTGGTTTGTGTTCTTTATCCN
|
pathogenic
| 1,690 |
Benign or pathogenic: chromosome 1, position 7965336, gene PARK7 (Parkinsonism associated deglycase) variant? Disease(s) if pathogenic?
|
pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_7']
|
TCCTGAGCTCAAGTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGTG
|
TCCTGAGCTCAAGTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGT
|
pathogenic
| 1,720 |
Variant in PARK7 (Parkinsonism associated deglycase), chromosome 1, position 7965421—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_7']
|
TTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTT
|
TTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTTNN
|
pathogenic
| 1,722 |
Clinically, how would you classify the variant at chromosome 1, position 7969406, gene PARK7 (Parkinsonism associated deglycase): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
CTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTTACTGTAGTTTTTTAAGGAAGTGGTTACCTTTTGTGTGTTTTTATTTTTCAGTGCAGATTCTAAAAGGAGTAAAATAAATTCTATACTTTACACATTTTCTTTTGAGTTTTGAGCTTTGCTTGGTTTTGAATCAACGGTAGGATGTTTATGGTCTTAAAAGTGATTCTAAGCCAGCCATAGTGGTTCACACCTGAAATCCTAGCACTTTGTGAGGCTGAGGCAGGAGGATTACCTGAGCCCAGGAGTTTTGAGACTAGCCTGGGCAATGAAGCGAGACCCTGTCTCTACAAAAATAAAAAAAATTAGCTGGCTGTGGTGGTGCATGCCTGTAGTCCTAGCTCCTGCAGAGGCTGAAGTGGGAGAGTTGCTTGAGCCCAGGAGTTCAAGGCTGTAGTGAGCCACGATTGCATCACTGCACTCTAGCCTGGGTGACAGAGGTGAGGGCTTCTCTCTAAAAAAATTTTATAGGTTGCACTAAATACATAATACATTTTTATTTTGTAATTTGTTTAATGACTAGATTTTTTTTAACCACTTTTTAAAGTACTAAAGTATTGTTGGCCGGCCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGTATCACGAGGTCAGGAGTTTGAGACCAGCCTGGTCAAGAGGGTGAAACCCCATCTTTACTAAAAATACACAGATTAGCCGGGCACAGTGGTGGGTACCTGTAATCCCAGTTGCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCGGGAGACGGAAGTTGCAGTGAGCTGAGATCACTGCACTCTAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAATAAATAAATAAATAAAAAGTCCTAAAGTATTGTTAAAACAATTTCCGTTTTGTAATTTCAGGAAGTTTGAAATTAATTTGATTTCTAGGATTTTTTGGGGGGGATACTAAAATTCTCCCCCCGTTACATTTTTCATAAAGTTAAGAAAAATTTTTTGTGCCTTTTACTTAAAATTTGTTTCTCTATTAATTTTATTTGTTTTTTTAGACAGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCGGTGGTGCAGCCTCAGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAACCCCCCAAGTAGATGGGACCACAGGTGTGCACCACCACACCCAGCTAATTTTCATATTTTTAGTAGAAATGGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGTAATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCAGTGTGCCCAGCCTGTTTTTCTATTAATTTTTTAAGTTGTTCATGTACATTCTTGTTGAACAATAATTCAAACAATATAGACACATATAAAGTCAAAATGTTAAATGTCCTGTTCTCATTCTCCCTCTGCCCCATCCCACACTACTCCCATTAGCAACTAGAGTGTCTTCCTTTGTCTGTGACTACCTGTATACAGAATATGTGGGGTGGGGTGCTTGTGGTGATTGTACACATACACGCATACATCTACACACAAATACATATATCCTTGTCTTTTACAGGAAGGAGATTATACTACCCCTGCTACTCTGCAGCGTGGACATCCTTGCATGTCACTACATACAGGTTTTCTGCATTTTTTGCTAGTTAAAACACCATTCCGTCATGTGGATACACCTTAATTTATTTAACTGTTCTATTGGCAGATAGGCTATCTCCTGTACTTCCCACATTTAAAATAGGAAAGTATTATTGGACTGTCAATTTAATGCACAGTTGAAATGAAATGTTTTTGTTTTCTTTATGTTTTAAACTGTTACAGGGACCATATGATGTGGTGGTTCTACCAGGAGGTAATCTGGGCGCACAGAATTTATCTGAGGTAAAAAATTCTACTCAATTATACCTCAATAAAGCTGGGGGGGGGGAAAAACTAAAGAATTTCAGCATCTGCTTATGTTCTGTTAATTTTGTTATTATTCAAATATTTCGGGAGGAGGCTGTGAAAAAAAAATAGAAACAACTAAAATTAACAAAATGGTGTTATAGCATTAACTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCTGAGTAGCTGGGATTGCAGGCATGCACCCCCATGCCCTGCTAATTTTTATATTTTTATTAGAGACGGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCACTCCCGACCTCAAGAAAACATTTTTAATATTTTCTATGGAGGTCAGGTGCAGTGGCTCAACGTCTATAATCCCAGTGGTTTGGGAGGCTGAGACAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTAAGTAACACATCGAGACGCCATCTCTACAAAAAATTTTCTTTTAATTAGCTGGGCACGGTGGTGCACACTTGTAGTCCCAGCTACTCGGGAGGCTATGGTGGGAGGATGACTTGAGGCCAGGGATTTGAGGCTGCAGTGAGCTGTGAATGCACCACTGCATTCTAGCCTGGGCAACAAAGCAAGAACCTGTCTTATCAGAAAAAAAAAATGTTGCCATGGAAGTAAGCTGAATTGGTGGGACCGTTATGAACAGATGTCGATGAATACAGTCCAAAGTAAGATGATTTGGTTTTTTTCCACCAGCAGAAGAATGATCAGATTTTGTGTTTTGAGAAGGGCAAATTGTCTACTCAAAGTCTTAACTGGGGGAAGCTGTGGGGCTAGGGCTGCCAGCAGGAATGGCAAATGCCATCAGCAGAGACCATTGTTCCTCATTTTAAGTCGTATGTGAGGAGTCAGAGGCCAGGGTGAGGGGCACACCTGCAGGCAGAGTTGGGGCTGCCAGAAGTAAGAAGTGGGTTGTGTCAGACACAAGGGATCTTTTCCTGCTAGATTCTGTTCCTCTCTCTGCCATCTGAAAACACCCAAAACACCACATTCCCTCCCATTTCTTTCTCCCTGGAGTACAAAATGGCAAGGGTCAAATTGCTTCTTCTGATCTTTAAATGTGGAAGAGTGCGTTTCTCTTATGAGAAATGCCTTGCTTGGGTTTAAGAATATAATATAGACACATTTTGATCATTTTTATACCAATGATTTAGAAATATTGTTGGAAAATAGGTCAGAGAGCTTGTGGTTTAAACTAAAATTAAATTCTTCCAAAGTTTCCTAGTGAGTGATTGGTTAGTGGCTTAATGATAACTTTATGTATTTTTGGTTTTCTTTTCACTAGTCTGCTGCTGTGAAGGAGATACTGAAGGAGCAGGAAAACCGGAAGGGCCTGATAGCCGCCATCTGTGCAGGTGACGTGCAGGGGCAGCCTGTGTTGCAGCGTCATTGGTGGGTGGGGTAGCCTTTCATTCGATGGTTTGATTCCAAATAGCTCTTCCCCTTCATAAAGCATGCAGGGCATCTGTGTTGGTGTATTTAGTTTGGGTGGCATGAAGTTGGTGTCATTTCAGAGATGAGGACAATTGTTCTGTTTTCTGCCTCTCCATGCCTTTGGTCTACATGCTGTGAAACTTAGTGTTTTCCGTGTTTGGTTGACCTCGGAGGAAAATAAGGCCCTCTGGAATTCAGTAAACAGCTTGTTACAGCAAGTCTCTGTGCCAGAAAGTCTTTGTGCCAGCACACAATCAGCAAAATCCATCAAACATCAACACAGCAGCTCTGTCCTGTGCTTGCCCTGCAAATTCAGAAGCCCCCATGGTGCTTTCCGCTGGCTTCTCGGGCGTTTCTGATTGTCTCAGTACCGAGTGATCTTGGGCACCGCATTATCTGCCACATAATTTA
|
CTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTTACTGTAGTTTTTTAAGGAAGTGGTTACCTTTTGTGTGTTTTTATTTTTCAGTGCAGATTCTAAAAGGAGTAAAATAAATTCTATACTTTACACATTTTCTTTTGAGTTTTGAGCTTTGCTTGGTTTTGAATCAACGGTAGGATGTTTATGGTCTTAAAAGTGATTCTAAGCCAGCCATAGTGGTTCACACCTGAAATCCTAGCACTTTGTGAGGCTGAGGCAGGAGGATTACCTGAGCCCAGGAGTTTTGAGACTAGCCTGGGCAATGAAGCGAGACCCTGTCTCTACAAAAATAAAAAAAATTAGCTGGCTGTGGTGGTGCATGCCTGTAGTCCTAGCTCCTGCAGAGGCTGAAGTGGGAGAGTTGCTTGAGCCCAGGAGTTCAAGGCTGTAGTGAGCCACGATTGCATCACTGCACTCTAGCCTGGGTGACAGAGGTGAGGGCTTCTCTCTAAAAAAATTTTATAGGTTGCACTAAATACATAATACATTTTTATTTTGTAATTTGTTTAATGACTAGATTTTTTTTAACCACTTTTTAAAGTACTAAAGTATTGTTGGCCGGCCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGTATCACGAGGTCAGGAGTTTGAGACCAGCCTGGTCAAGAGGGTGAAACCCCATCTTTACTAAAAATACACAGATTAGCCGGGCACAGTGGTGGGTACCTGTAATCCCAGTTGCTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCGGGAGACGGAAGTTGCAGTGAGCTGAGATCACTGCACTCTAACCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAATAAATAAATAAATAAAAAGTCCTAAAGTATTGTTAAAACAATTTCCGTTTTGTAATTTCAGGAAGTTTGAAATTAATTTGATTTCTAGGATTTTTTGGGGGGGATACTAAAATTCTCCCCCCGTTACATTTTTCATAAAGTTAAGAAAAATTTTTTGTGCCTTTTACTTAAAATTTGTTTCTCTATTAATTTTATTTGTTTTTTTAGACAGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCGGTGGTGCAGCCTCAGCTCACTGCAGCCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAACCCCCCAAGTAGATGGGACCACAGGTGTGCACCACCACACCCAGCTAATTTTCATATTTTTAGTAGAAATGGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGTAATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCAGTGTGCCCAGCCTGTTTTTCTATTAATTTTTTAAGTTGTTCATGTACATTCTTGTTGAACAATAATTCAAACAATATAGACACATATAAAGTCAAAATGTTAAATGTCCTGTTCTCATTCTCCCTCTGCCCCATCCCACACTACTCCCATTAGCAACTAGAGTGTCTTCCTTTGTCTGTGACTACCTGTATACAGAATATGTGGGGTGGGGTGCTTGTGGTGATTGTACACATACACGCATACATCTACACACAAATACATATATCCTTGTCTTTTACAGGAAGGAGATTATACTACCCCTGCTACTCTGCAGCGTGGACATCCTTGCATGTCACTACATACAGGTTTTCTGCATTTTTTGCTAGTTAAAACACCATTCCGTCATGTGGATACACCTTAATTTATTTAACTGTTCTATTGGCAGATAGGCTATCTCCTGTACTTCCCACATTTAAAATAGGAAAGTATTATTGGACTGTCAATTTAATGCACAGTTGAAATGAAATGTTTTTGTTTTCTTTATGTTTTAAACTGTTACAGGGACCATATGATGTGGTGGTTCTACCAGGAGGTAATCTGGGCGCACAGAATTTATCTGAGGTAAAAAAATTCTACTCAATTATACCTCAATAAAGCTGGGGGGGGGGAAAAACTAAAGAATTTCAGCATCTGCTTATGTTCTGTTAATTTTGTTATTATTCAAATATTTCGGGAGGAGGCTGTGAAAAAAAAATAGAAACAACTAAAATTAACAAAATGGTGTTATAGCATTAACTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCTGAGTAGCTGGGATTGCAGGCATGCACCCCCATGCCCTGCTAATTTTTATATTTTTATTAGAGACGGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCACTCCCGACCTCAAGAAAACATTTTTAATATTTTCTATGGAGGTCAGGTGCAGTGGCTCAACGTCTATAATCCCAGTGGTTTGGGAGGCTGAGACAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTAAGTAACACATCGAGACGCCATCTCTACAAAAAATTTTCTTTTAATTAGCTGGGCACGGTGGTGCACACTTGTAGTCCCAGCTACTCGGGAGGCTATGGTGGGAGGATGACTTGAGGCCAGGGATTTGAGGCTGCAGTGAGCTGTGAATGCACCACTGCATTCTAGCCTGGGCAACAAAGCAAGAACCTGTCTTATCAGAAAAAAAAAATGTTGCCATGGAAGTAAGCTGAATTGGTGGGACCGTTATGAACAGATGTCGATGAATACAGTCCAAAGTAAGATGATTTGGTTTTTTTCCACCAGCAGAAGAATGATCAGATTTTGTGTTTTGAGAAGGGCAAATTGTCTACTCAAAGTCTTAACTGGGGGAAGCTGTGGGGCTAGGGCTGCCAGCAGGAATGGCAAATGCCATCAGCAGAGACCATTGTTCCTCATTTTAAGTCGTATGTGAGGAGTCAGAGGCCAGGGTGAGGGGCACACCTGCAGGCAGAGTTGGGGCTGCCAGAAGTAAGAAGTGGGTTGTGTCAGACACAAGGGATCTTTTCCTGCTAGATTCTGTTCCTCTCTCTGCCATCTGAAAACACCCAAAACACCACATTCCCTCCCATTTCTTTCTCCCTGGAGTACAAAATGGCAAGGGTCAAATTGCTTCTTCTGATCTTTAAATGTGGAAGAGTGCGTTTCTCTTATGAGAAATGCCTTGCTTGGGTTTAAGAATATAATATAGACACATTTTGATCATTTTTATACCAATGATTTAGAAATATTGTTGGAAAATAGGTCAGAGAGCTTGTGGTTTAAACTAAAATTAAATTCTTCCAAAGTTTCCTAGTGAGTGATTGGTTAGTGGCTTAATGATAACTTTATGTATTTTTGGTTTTCTTTTCACTAGTCTGCTGCTGTGAAGGAGATACTGAAGGAGCAGGAAAACCGGAAGGGCCTGATAGCCGCCATCTGTGCAGGTGACGTGCAGGGGCAGCCTGTGTTGCAGCGTCATTGGTGGGTGGGGTAGCCTTTCATTCGATGGTTTGATTCCAAATAGCTCTTCCCCTTCATAAAGCATGCAGGGCATCTGTGTTGGTGTATTTAGTTTGGGTGGCATGAAGTTGGTGTCATTTCAGAGATGAGGACAATTGTTCTGTTTTCTGCCTCTCCATGCCTTTGGTCTACATGCTGTGAAACTTAGTGTTTTCCGTGTTTGGTTGACCTCGGAGGAAAATAAGGCCCTCTGGAATTCAGTAAACAGCTTGTTACAGCAAGTCTCTGTGCCAGAAAGTCTTTGTGCCAGCACACAATCAGCAAAATCCATCAAACATCAACACAGCAGCTCTGTCCTGTGCTTGCCCTGCAAATTCAGAAGCCCCCATGGTGCTTTCCGCTGGCTTCTCGGGCGTTTCTGATTGTCTCAGTACCGAGTGATCTTGGGCACCGCATTATCTGCCACATAATTT
|
benign
| 1,726 |
A mutation at chromosome position 7984954 on chromosome 1 in gene PARK7 (Parkinsonism associated deglycase): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_7']
|
AGAAGAGGAGAAAGAGTAGAACAAGGTGTAACTGCCTGTGAACGATCAATTGAGATAACTCACTGCCTTCGACCAGCAGTGGCTTGGTTTCTAATGACAGTAAGACAAGTTCCTATAGCCATTGTTAATCTCCTTGGAAAAGAAATGAACACTGTGTGGTTTCAGAAGCTCATTAATATAGCAGAAGCACTCTGCTTCTGTTTGAAGGGAGGTTTTCAGATGAATTTTTCTGCGTGTTCATTGAACAGACGTTTCCTAAGCTCCTCCTTAGTGCCTGGCACTGGGAACAGAAGAAGGAAGAAGAGAAAGCTGTGCCCTCAGGGTGTTCTCAGGTCCGCACTGAGCGGTGGTGACCAGAGCCACCCGCCTGCCTGCGTGGCCGGTGCATCAGGATAGAGCAGGAGTTCACAGAGGAGCTTTGTCACTTCCCCCTCCGCTAAATCTGTTCTGTGGCCCCACATCACTGAGTGGTGTCACCATCATCCAGTCACCTGGGACAGGCAGCTGGGAGTCATCCTTGAAGCCTCCTCACCTAGGCCTTCATTGCAAACCTCCATTTCCTCTGGATCACTGTCACCAGCCTAGTGCAGGCACCACCAGCTTCTACCCAGAGAGCAGGTTCCTTTCCATCTCCTTCTGGTCCCAGCCCAGTCTCTGTGCGAAGGCCAGACCGCAGAGGGCTCCAGGCCCCGTGACATGGAGTTCAGCGTGACCTTCAGGTGCTGGAGAGAGTTGGCAAGGGCTTTCCATGGGGAACTGGCTATGCCCTGCTTTGCACTCTGGACAGTTAGCTTTTGGGTGCTGGGCATGGATCGAAGGGGCGCACAGCCGGAAGGGAGAGCTGTAATCATGCAGAGATCCTTCCCCTTTAAAGCAGGGGACAGGCGAGAAAGGAGATCGAGTCAAGAATGGTGTTTGGTGCCTTTGACCTCACACTTCAGGGGTGCCTCCTGTGTGCCATGGATATCATTGGCCAGACAGGGACTGATGAAGACCCAGCCTTTTTAAAGAGTAAACAATAAACAAGGAAATGAAATGTTCATAGATTGTGATAGATTGTATCAATGCTGCGAGGGCAGTAAATAGAATGCGGTGATAGAGTCAATAGAGGTACCTAATTTGGGGAGGTGGGGGTGGTCACAGATACCCTCTCTGAGGGGTTTTTGTTGATGCTGAAACTGAAGGAGCAAGGAACTGGAAAGAGCTGGTCTCTGGGTGGAGGGAGCAGCCCTTGAGCTCTTCCTGGAGCAGGAGAGAACGTGTTGTATACAGTAAGGGAAGCTCCAGGTGGGAGAGTGATAGGGATGGGTGTGGGGAGGGAGGTTAGGCTCTGTGTGCAGTGGAGAGGCTGGTGACTACCTGCTGTGGAGGGGCAGAGCTCAGGGCATCCATGCTTAAGAGTCCCAGTTTTGGTATTATATTTGCCAAGAAATAGCCAACCGGCGGGCCTGGAGGTGCGGGGATGCGGAAGGAAAGTAGTCCTTGAGAGGGAATGTGGTTTCTACCTGCACACGCACACTCACATGCATACCCGCCTCCATTACGTTGTGCTGTGGTTGTTTTTGAGGCATCAGAGGGTGTGCGTGCCGCCACATGTTGATTGGGGTGGCTTCTGCGTTCAGCGCTGCCGCATCCCTTCACCCTTCCCCGGCACTTCAGAATTGACACTTGAGCTTTGTTGTAAATAGTGATGTGAGTAACTGTCATTCACCGACATCTCCCCCAACACTTAAAGTCTTAGCAGCTGCATTTAACTCACGCATATTTGTTTCATTCTAACAGTGGTTTCTGTCACCCTTTGCTCTGCACAGTTTTAAAAATACCTTTGTAGGGGGCTTCTAAGAGCTTGGAGTGCCTAGTAAATGTTTTTGAATGGTTAGCTACAGTGTTGGGTTTATATGCTGTAATAGTGAATTTAATTGGTAAGTAATCGTCTTTCTCGTCACATAGCCCATTAGGATGTCACCTTTTCTGTTTCTACTTTGCAGGTCATTACACCTACTCTGAGAATCGTGTGGAAAAAGACGGCCTGATTCTTACAAGCCGGGGGCCTGGGACCAGCTTCGAGTTTGCGCTTGCAATTGTTGAAGCCCTGAATGGCAAGGAGGTGGCGGCTCAAGTGAAGGCTCCACTTGTTCTTAAAGACTAGAGCAGCGAACTGCGACGATCACTTAGAGAAACAGGCCGTTAGGAATCCATTCTCACTGTGTTCGCTCTAAACAAAACAGTGGTAGGTTAATGTGTTCAGAAGTCGCTGTCCTTACTACTTTTGCGGAAGTATGGAAGTCACAACTACACAGAGATTTCTCAGCCTACAAATTGTGTCTATACATTTCTAAGCCTTGTTTGCAGAATAAACAGGGCATTTAGCAAACTACTGATTGTTTCTTGTTTTGTCTCTCATTTCTTTTGTGAAATTAAATTCCGTATCACCTTCATTTGCAGCTCTTAACTGTCCATATGGCACTGAAATAAAAGAACAGTGACCACATTTTACACAGCAAGGAGGAAAGGCATACAAACAGAATTTAAGAGGCTTGTGATTTTCTCTGCTTATTAGCTGTGTGTTTTTAATGTGCTATTAAAAAATACCAATGAGGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAAACCGAGCCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGTCTCCATCTCTACAAAAAAATACAAAAACTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTTAGGAGCCTGAGGTGAGAGGATCACTTGAGCCCCAGGGGGTCAAGGCTACAATGAGCTGTGATCACACCACCGCACCCCAGCCTGGGTGTCACAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAGAAAAAAAGTTGGCTGTACTGGTGAATTTTTATACACCAGTTCCTTTTTCCATTATGGAAAGAGTACTTGGATAAAAACTTTTCAAGGTTGGCCCAACATCTCTTTTCCCTTCCCCAGGTAATAGCACCCAGCATTCCTTGTGAACCACCCAGTTCCTCCTGGGCGGGCACATGATCCAGACCCAGCCAATCCGAGCCCTGTTTACCACTGGCCGTGTGACCCAGGTGAGCTCAGTCAGTCCACGAGACTCCATCCGAGGGTCTCATAGCTGCTGGAGTGGCCAAGAGGATATGCTGGCAACCCAGAGCACTGGCAGCCGTCTCGTCACTGCCAGCGAAAGACCTGCTTGGGACGGCTCTCACGCTGTGGGTGGCTGACCCTAGTCCAGAAGGCTGGGCAGATGTTAACTTTTACAATGCAAACACATGTGTAATTGTCTATTTTAGTAAGTGCTTTAACAGATGATAATGCTAAGGGAGAGACGATTTCCATGGTGGGGAGTGGGGAGGGAGGCTTCTGAGGAAGTGACATTTCAGGTGTGAAGTAGGAGCAGTGCTTAGGCTTTCATTCCTTCCCCAGCTGTGTGCTCAGTCAGTACCTACTGTGTGCCAAGTGCTGTTCCTGCTGCTGGGAATACGCCAGGGAGAAACACAGCCTTTGTCCTTGGGGAGCTTATGTTGTGGGTGCCGGGGAGAGATGAAAGCAAATACGAAAATACCCACATTCTATGAAGAAAATTAAGGAGGGTAAGGAGGCAGTGACAGGGGAATTGCATGATGGGAAGTGAAGGCCTCTCCGAAAAGAGATCTTAGTGGGAATCTGAGGACTTTTGGGTGTGAAAGAGACAAGTAGGTGTCTGTTCAGAGCATACCAGGCAGCAGGAGCAGGGAGTGTAGAGGCCCTGCCGCAGGAGCATTGAGAGGCGGGTTAGAGAAACATGGTAGGAGGTGAAGTTGGAGAGGTAGCCAGGGCCATGGTGAGGTGTCAAGACAGAGACAGAACCACCAGAGAGAGACCTGACCCACCTCGTTCAAAGACTGGCCCTGCAGAGAAGAGACCCTTCTGGAGCAGGCACGCAGGCAGGCGGGATGCTGGGGCCAGTCAGGTGGCAGCATTGGGCACCCACTCAGGGTGTGAGAGGAAGGGCGTCCGGGACAACCCCCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGA
|
AGAAGAGGAGAAAGAGTAGAACAAGGTGTAACTGCCTGTGAACGATCAATTGAGATAACTCACTGCCTTCGACCAGCAGTGGCTTGGTTTCTAATGACAGTAAGACAAGTTCCTATAGCCATTGTTAATCTCCTTGGAAAAGAAATGAACACTGTGTGGTTTCAGAAGCTCATTAATATAGCAGAAGCACTCTGCTTCTGTTTGAAGGGAGGTTTTCAGATGAATTTTTCTGCGTGTTCATTGAACAGACGTTTCCTAAGCTCCTCCTTAGTGCCTGGCACTGGGAACAGAAGAAGGAAGAAGAGAAAGCTGTGCCCTCAGGGTGTTCTCAGGTCCGCACTGAGCGGTGGTGACCAGAGCCACCCGCCTGCCTGCGTGGCCGGTGCATCAGGATAGAGCAGGAGTTCACAGAGGAGCTTTGTCACTTCCCCCTCCGCTAAATCTGTTCTGTGGCCCCACATCACTGAGTGGTGTCACCATCATCCAGTCACCTGGGACAGGCAGCTGGGAGTCATCCTTGAAGCCTCCTCACCTAGGCCTTCATTGCAAACCTCCATTTCCTCTGGATCACTGTCACCAGCCTAGTGCAGGCACCACCAGCTTCTACCCAGAGAGCAGGTTCCTTTCCATCTCCTTCTGGTCCCAGCCCAGTCTCTGTGCGAAGGCCAGACCGCAGAGGGCTCCAGGCCCCGTGACATGGAGTTCAGCGTGACCTTCAGGTGCTGGAGAGAGTTGGCAAGGGCTTTCCATGGGGAACTGGCTATGCCCTGCTTTGCACTCTGGACAGTTAGCTTTTGGGTGCTGGGCATGGATCGAAGGGGCGCACAGCCGGAAGGGAGAGCTGTAATCATGCAGAGATCCTTCCCCTTTAAAGCAGGGGACAGGCGAGAAAGGAGATCGAGTCAAGAATGGTGTTTGGTGCCTTTGACCTCACACTTCAGGGGTGCCTCCTGTGTGCCATGGATATCATTGGCCAGACAGGGACTGATGAAGACCCAGCCTTTTTAAAGAGTAAACAATAAACAAGGAAATGAAATGTTCATAGATTGTGATAGATTGTATCAATGCTGCGAGGGCAGTAAATAGAATGCGGTGATAGAGTCAATAGAGGTACCTAATTTGGGGAGGTGGGGGTGGTCACAGATACCCTCTCTGAGGGGTTTTTGTTGATGCTGAAACTGAAGGAGCAAGGAACTGGAAAGAGCTGGTCTCTGGGTGGAGGGAGCAGCCCTTGAGCTCTTCCTGGAGCAGGAGAGAACGTGTTGTATACAGTAAGGGAAGCTCCAGGTGGGAGAGTGATAGGGATGGGTGTGGGGAGGGAGGTTAGGCTCTGTGTGCAGTGGAGAGGCTGGTGACTACCTGCTGTGGAGGGGCAGAGCTCAGGGCATCCATGCTTAAGAGTCCCAGTTTTGGTATTATATTTGCCAAGAAATAGCCAACCGGCGGGCCTGGAGGTGCGGGGATGCGGAAGGAAAGTAGTCCTTGAGAGGGAATGTGGTTTCTACCTGCACACGCACACTCACATGCATACCCGCCTCCATTACGTTGTGCTGTGGTTGTTTTTGAGGCATCAGAGGGTGTGCGTGCCGCCACATGTTGATTGGGGTGGCTTCTGCGTTCAGCGCTGCCGCATCCCTTCACCCTTCCCCGGCACTTCAGAATTGACACTTGAGCTTTGTTGTAAATAGTGATGTGAGTAACTGTCATTCACCGACATCTCCCCCAACACTTAAAGTCTTAGCAGCTGCATTTAACTCACGCATATTTGTTTCATTCTAACAGTGGTTTCTGTCACCCTTTGCTCTGCACAGTTTTAAAAATACCTTTGTAGGGGGCTTCTAAGAGCTTGGAGTGCCTAGTAAATGTTTTTGAATGGTTAGCTACAGTGTTGGGTTTATATGCTGTAATAGTGAATTTAATTGGTAAGTAATCGTCTTTCTCGTCACATAGCCCATTAGGATGTCACCTTTTCTGTTTCTACTTTGCAGGTCATTACACCTACTCTGAGAATCGTGTGGAAAAAGACGGCCTGATTCTTACAAGCCGGGGTGGGACCAGCTTCGAGTTTGCGCTTGCAATTGTTGAAGCCCTGAATGGCAAGGAGGTGGCGGCTCAAGTGAAGGCTCCACTTGTTCTTAAAGACTAGAGCAGCGAACTGCGACGATCACTTAGAGAAACAGGCCGTTAGGAATCCATTCTCACTGTGTTCGCTCTAAACAAAACAGTGGTAGGTTAATGTGTTCAGAAGTCGCTGTCCTTACTACTTTTGCGGAAGTATGGAAGTCACAACTACACAGAGATTTCTCAGCCTACAAATTGTGTCTATACATTTCTAAGCCTTGTTTGCAGAATAAACAGGGCATTTAGCAAACTACTGATTGTTTCTTGTTTTGTCTCTCATTTCTTTTGTGAAATTAAATTCCGTATCACCTTCATTTGCAGCTCTTAACTGTCCATATGGCACTGAAATAAAAGAACAGTGACCACATTTTACACAGCAAGGAGGAAAGGCATACAAACAGAATTTAAGAGGCTTGTGATTTTCTCTGCTTATTAGCTGTGTGTTTTTAATGTGCTATTAAAAAATACCAATGAGGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAAACCGAGCCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGTCTCCATCTCTACAAAAAAATACAAAAACTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTTAGGAGCCTGAGGTGAGAGGATCACTTGAGCCCCAGGGGGTCAAGGCTACAATGAGCTGTGATCACACCACCGCACCCCAGCCTGGGTGTCACAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAGAAAAAAAGTTGGCTGTACTGGTGAATTTTTATACACCAGTTCCTTTTTCCATTATGGAAAGAGTACTTGGATAAAAACTTTTCAAGGTTGGCCCAACATCTCTTTTCCCTTCCCCAGGTAATAGCACCCAGCATTCCTTGTGAACCACCCAGTTCCTCCTGGGCGGGCACATGATCCAGACCCAGCCAATCCGAGCCCTGTTTACCACTGGCCGTGTGACCCAGGTGAGCTCAGTCAGTCCACGAGACTCCATCCGAGGGTCTCATAGCTGCTGGAGTGGCCAAGAGGATATGCTGGCAACCCAGAGCACTGGCAGCCGTCTCGTCACTGCCAGCGAAAGACCTGCTTGGGACGGCTCTCACGCTGTGGGTGGCTGACCCTAGTCCAGAAGGCTGGGCAGATGTTAACTTTTACAATGCAAACACATGTGTAATTGTCTATTTTAGTAAGTGCTTTAACAGATGATAATGCTAAGGGAGAGACGATTTCCATGGTGGGGAGTGGGGAGGGAGGCTTCTGAGGAAGTGACATTTCAGGTGTGAAGTAGGAGCAGTGCTTAGGCTTTCATTCCTTCCCCAGCTGTGTGCTCAGTCAGTACCTACTGTGTGCCAAGTGCTGTTCCTGCTGCTGGGAATACGCCAGGGAGAAACACAGCCTTTGTCCTTGGGGAGCTTATGTTGTGGGTGCCGGGGAGAGATGAAAGCAAATACGAAAATACCCACATTCTATGAAGAAAATTAAGGAGGGTAAGGAGGCAGTGACAGGGGAATTGCATGATGGGAAGTGAAGGCCTCTCCGAAAAGAGATCTTAGTGGGAATCTGAGGACTTTTGGGTGTGAAAGAGACAAGTAGGTGTCTGTTCAGAGCATACCAGGCAGCAGGAGCAGGGAGTGTAGAGGCCCTGCCGCAGGAGCATTGAGAGGCGGGTTAGAGAAACATGGTAGGAGGTGAAGTTGGAGAGGTAGCCAGGGCCATGGTGAGGTGTCAAGACAGAGACAGAACCACCAGAGAGAGACCTGACCCACCTCGTTCAAAGACTGGCCCTGCAGAGAAGAGACCCTTCTGGAGCAGGCACGCAGGCAGGCGGGATGCTGGGGCCAGTCAGGTGGCAGCATTGGGCACCCACTCAGGGTGTGAGAGGAAGGGCGTCCGGGACAACCCCCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGANNN
|
pathogenic
| 1,740 |
Is the genetic mutation found on chromosome 1 at position 8358216, within the gene RERE (arginine-glutamic acid dipeptide repeats), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['CHARGE_syndrome', 'Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart']
|
CCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCC
|
CCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGA
|
pathogenic
| 1,763 |
Variant at chromosome position 8358580, chromosome 1, gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
GACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCA
|
GACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCANNNNNNNNNNNNNNN
|
benign
| 1,776 |
Is the genetic variant on chromosome 1, position 8358802, gene RERE (arginine-glutamic acid dipeptide repeats), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Neurodevelopmental_disorder']
|
AATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTC
|
AATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCN
|
pathogenic
| 1,783 |
The chromosome 1, position 8359782 genetic variant in gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGC
|
CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCNNNNNN
|
benign
| 1,788 |
Is the genetic variant on chromosome 1, position 8359782, gene RERE (arginine-glutamic acid dipeptide repeats), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGC
|
CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCNNNNNNNNNNNN
|
benign
| 1,789 |
Determine whether the variant at chromosome 1, position 8359794, in gene RERE (arginine-glutamic acid dipeptide repeats) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
CCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTA
|
CCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGT
|
benign
| 1,791 |
Is the variant located on chromosome 1 at position 8359808, gene RERE (arginine-glutamic acid dipeptide repeats), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGA
|
AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAG
|
benign
| 1,792 |
Evaluate the clinical significance of the mutation at chromosome 1, position 8359808 in gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGA
|
AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGANNNNNN
|
benign
| 1,793 |
Is the genetic mutation found on chromosome 1 at position 8361046, within the gene RERE (arginine-glutamic acid dipeptide repeats), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
TCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGAAGAGGCTTCCTCCTTCACCTTCTGCAGGGGAAAAGCCCACAAGGAGCAATCAGGCCAAGGGAGACCATCCCATCAGCCTCAGCAAGGAAATGACGGTTTGCAGACACTTTGCTCCCTCATTCTGAGTTCCATCTCCAGGAGCAAAAAGCTCTAGAAGGGTCAACTGGGGCCAAGAAGGAACACGTATCTGGGGGTGGGAATGAGAGCCAGCCCTCTGCACCTGTGGGTTTGCATCCTCAGATTCAAGCAACCATGGACTGAAAATGTAGGCAGGACTGTGATGGTTACATCTATACTGAACGTGCACACAATGTTTTCTTGTCATTATCTCCTGAACTAGACAGTGGAACCACTGTTTAAACTGCATTTACATTGCACTGGGCAGTAGAAGTAACCTAGGGATGATTTAGAGTCTACAGGAGGATGTGACTGGTCACATGCAAACCATGTGTCGATGTATATGAGATTTGAGCACCTGTGGATTTTGGTATCCTGGGCGGTGGAGGCTCTGGAGCCAATCTCTAATGGATACCAAGGGAGGACTGTACTTGGCTCTGGAGGGAGCCGTTCTAACCACTCCCCACACTTTCTGAGAACTTGGGAAGCTTGAGGCAGAGGTGGCCCCCAAGAGTTGGTGCTCGAGCCCCCTTCTCTAGGCCCCCAGCCTTCGGTCTGCAGCCCCTAGGCCAGGACAATGCTGGTGTCCAGACAGGCTCCATGAATGAGCTGCATCCTCGTGTCTGAGGGAGCTGATCACGAATACCAGCAAACCAGTTTTAATGTGAGGGAGGGACAGAGTAGGCCCTACTATCCCCCCAGCACCTGACCTTGGCCGACTTCTTCACTGTCTCTGCTTTACTGTCATTGCTGGAGGTACTGGCAGCGCTGGGGGAGTTCCGGCCGCTGGAGCGGATGTCTTCATTGATGGGTGAGGTGCGACCATCAGGGCTGGCTGGCTGCTTCTTCCGACCACTGCGTAGTGTCGACATCTGCCCACCCAAACCGAAGACTGGTGACACCAGATTCCCAGTCCCCATGTGGACCCACCTGAGCCCAACCCACAGGCAGAAGCCTGAAGGCACACCCTATCAGCCTCTCAGCAAATCCCAGACCTTGGCAAACAACAGGCCGCCCTGCCTGTCCCTGGCTGCATGAAGGTCGGTGTGGAGCTCAGGGAAGAGGTGGGGAAATCAGTGGGCTCACGCCAGAGGGCGGTTCTCAAACCTAAAGCACTCATC
|
TCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGAAGAGGCTTCCTCCTTCACCTTCTGCAGGGGAAAAGCCCACAAGGAGCAATCAGGCCAAGGGAGACCATCCCATCAGCCTCAGCAAGGAAATGACGGTTTGCAGACACTTTGCTCCCTCATTCTGAGTTCCATCTCCAGGAGCAAAAAGCTCTAGAAGGGTCAACTGGGGCCAAGAAGGAACACGTATCTGGGGGTGGGAATGAGAGCCAGCCCTCTGCACCTGTGGGTTTGCATCCTCAGATTCAAGCAACCATGGACTGAAAATGTAGGCAGGACTGTGATGGTTACATCTATACTGAACGTGCACACAATGTTTTCTTGTCATTATCTCCTGAACTAGACAGTGGAACCACTGTTTAAACTGCATTTACATTGCACTGGGCAGTAGAAGTAACCTAGGGATGATTTAGAGTCTACAGGAGGATGTGACTGGTCACATGCAAACCATGTGTCGATGTATATGAGATTTGAGCACCTGTGGATTTTGGTATCCTGGGCGGTGGAGGCTCTGGAGCCAATCTCTAATGGATACCAAGGGAGGACTGTACTTGGCTCTGGAGGGAGCCGTTCTAACCACTCCCCACACTTTCTGAGAACTTGGGAAGCTTGAGGCAGAGGTGGCCCCCAAGAGTTGGTGCTCGAGCCCCCTTCTCTAGGCCCCCAGCCTTCGGTCTGCAGCCCCTAGGCCAGGACAATGCTGGTGTCCAGACAGGCTCCATGAATGAGCTGCATCCTCGTGTCTGAGGGAGCTGATCACGAATACCAGCAAACCAGTTTTAATGTGAGGGAGGGACAGAGTAGGCCCTACTATCCCCCCAGCACCTGACCTTGGCCGACTTCTTCACTGTCTCTGCTTTACTGTCATTGCTGGAGGTACTGGCAGCGCTGGGGGAGTTCCGGCCGCTGGAGCGGATGTCTTCATTGATGGGTGAGGTGCGACCATCAGGGCTGGCTGGCTGCTTCTTCCGACCACTGCGTAGTGTCGACATCTGCCCACCCAAACCGAAGACTGGTGACACCAGATTCCCAGTCCCCATGTGGACCCACCTGAGCCCAACCCACAGGCAGAAGCCTGAAGGCACACCCTATCAGCCTCTCAGCAAATCCCAGACCTTGGCAAACAACAGGCCGCCCTGCCTGTCCCTGGCTGCATGAAGGTCGGTGTGGAGCTCAGGGAAGAGGTGGGGAAATCAGTGGGCTCACGCCAGAGGGCGGTTCTCAAACCTAAAGCACTCATCNNNNNNNNNNNN
|
benign
| 1,807 |
The chromosome 1, position 8614630 genetic variant in gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart']
|
TATAAAAAGTTTACAAAAAAATTAATGTTATTATGGGGAAGACTTAAAATCCATTCAGCAATTCCTGTTGAGTATTACAGTAAATAAAAGTATTAATAATAGCATCCACATTGATTAAGAAAATATCAGCCTGAAAGTAAAACCTACTTTTTAGATATATGTGGAAATAAGACATATCGGTAAATAAGACATATTGGTAATTGCTAAAGGCTGAAGCTTTAGAAGTAGGTAGTCACATTGGGAATCTACTAATTTGTCCCGTAAGATGTCAGTCTTTCTCTGGGAATTAAAATTAGACTTTTATCTATACTACACTGGGTTCTGTCTTCCACTGTAAGACAGAGAATTCCAAGGTTTCCATAATGTGAAACCCCCATCCCTTTTTTTGGTATGACCCTTGAGTAATTACATCAGCAAATATGTAAACGTGTTATGCTGTTGCAACAATTACTCCTGATTTGGTTACAATTATCAATATATCATCTCTACTGTCTTGGTCCTCTTCATCTTACCCATGAATGGCGGCCCTAGCCTTCTACTTGGAATTTTCACCATCTTTCCCCGTTCCACACTGCAAACTGCTACAGTCAATCTTCTTAAGCAGTGGCCTGCAAGATGGCTTGCCTAGAGTAAAAAAGCTTACACAGGCTCTCTACTGCCTATTACACAAAATCTTAACTTTGCTAACTTTGAAGATCCTCTATAATCTAGCCCCATTTATATCTCCACATCTGCCTCCCAAAATCCACTAACCTGTGCTCTTCAGTGACGTCCTGCGGGTCATCTTCTCACAACTCCCAGACTCGTCAGCCTCACTGCCTGCGTTGCTTATAAGGACAGGCTGCCATGTACACCTGGAAGGCTCCTACACTCTGCCTATCCACTTCTTATTGATGTATGAAAAACATACCCAGCTCCTCAAAACCTACCCACCCTCACAGAACTTCCCCAAGTGCCACAGCCCATCTGGAGCACTTTCTTTTCTACGACCCAAGATATTAATATTCTACACTGCAGCTGAACAACTCACCATATATTGACAGTATCTTGCATTGTGTGTGTCTAAGTGTGAGAGAGCTTGCTATCCTCTTGTATTATTTGCTAATTCAGTATGAACTGGGGCACCACAGTCACTTCTTTACACTGACGTCAATGTAACTGCAACTACACTTCTTTCATATTAACCCACTAGTCATTCAGAATAATAAATACTCGACTTTCAGAAAACACTACCATTAAATCCTCCATTAAGTCCTACCATTACAGGAAAAAAAAGGAAGACAAGTGTGAACTTTCCTAAAAAAAGGGAGATGTACTAAACGATAATAACCCCTATGATCACCCACATGGGTCCCTGTGTTTTAAGGGATAAAGCACTACAGATACTTCATCCTGCTGCCTCTTACACATCCCTCAGGACCACCACTAGTAACAGAGGAATAACCAAGGGATAGCCGTTAAGAAGTATAGCTACAGCCCGACCCAAGCCTCTTGAAGGGCATATTCTGCATCTAGCACTGGAGAAAAGCCTCGCTATTTCTGAGCAATACCCTACAAAATGTCACCCGAGAGGACAACACCCAAAATAGTTTAGATTGGTGGGCCATGAGTCCCAATGAGCCTGGGGAAACGCACATTCCACACTTGAGCTCAAACTTACCCCCTTTTTTCCCCATTTCAGTTGCCAACATCCATACTCGCTGCTGATTGCCAGCTCCTGCTCCTTGCAGCAGCCCAGCATGCTCTCTGCTGGTGCCAAAATACCCTTCCACCAAACCCCGCTAACTTCTGGAACTGTCCTAGAGGGGTAAGGCAAGTCCCGTATTTTGCTTCCTCTGTGCATGTACTTGTTACTCCTTTAAAAACACATATAATACAGCACATTTTAAAAGGGGCTCTGGGGAGGGAGGTAATATTCCTATTTTATACCCTATGGGATATAAAATACTGATAGCTTTTAAAAACGGGATTCTCCTTACCCCTACAGGCCCTCTCCCGGCTTCAGAAAGATGCTGTGGTGGCTGTGATGCCACCGGCAGAGAGCATGCTGGGGGGTCACACAAAGCAGGAGTTGGAGATCTGCAACAGGCCTGGGAGTTGTGGACCTAAAAAAGAAAACAGTTTTAAGTTAACGTGCCCAACGCCCCATCATGCCCTGGTTATTAGGGGCACGCAGCACACAAGTCGGTATCTGCAAAAACTCTTTAGCAGATGACCTCTGAAACCTCAGATAATTTGTTCTACCACTAAAGTTAACCTTTTTGCATTAATCAAAGCTGTTACCTTATTTCAGTGTGAACAAACGTATGACCCTTCTGGCTCCACACTTTAATCCAGGTCCTATCATAAAGCAGTATGGTGTGTGCCCCTCAAAATAACCAAGTTAAGATGTGAGATAGTGCCAAAGCACAGTTAACAGCAACATGCTATGCTTATAATAAAAACAGAAATGCAATGGTGTCAGATACAACCGTAAAATGAATCACAAGTGGACAAACTGAGCTTTCAGAAGAGTTTCTAATGACAGAAGCTAGAGACATAAGACATGTACTTAATAAGGAAATAGGGCATTTGGGTGGCCAAAGAAAGGCCCTGCCATTTTCTCAAAGTTCAAGTTTAACTGTATAAAGCTGAAGGCAAAGTAAATAGACAAAGGCCCCAAAACAGAGGGAAAAAGACAATATTCACATGAGTTATAATTTTCTCCAAACGCCCACAAGGTGAGTATAATGAATAGGCACAGAGCATAAAGTTCCAGAAAGACATTACTTATTTTTATAGGCAAAACTAGTTTAGTATGTATCACGTGTCTTTTTAAAATTAACTTTGAAAACATTTAAAAACCAGGAAAAAAAAGACTATAGAGCAACTTCTGAAAGCTAGCACAGTATACCTCAGATAACAGTTTGAGTATGTTCCTTTTCAAATATTTTAGACAGCACATAACATTTTTAAACCAATTTCATGTGGTTTTGAATGAACTAAAAAAAATCCATAAAATCCCAATACTTATATAAGAACCTGTCTTACGGTTGTCTAAAAATTACAGATGAACAACCTTTTAATATTAGATCATTATTAGGGTGTCCTGTTACACATAATTCCCTTTGAAAAGCAAAGAGCAATTAACAACTTTCTGTAAACAAAGATTTTAATATATTTCATTATCTATTTTTGTAAGTCTCTTAAGCTCCCTACACATAGACACACACACACACACACAAAACAAAACAAATACCAGGAAAATAAGCTAATGTTCAGAATGTTTTATCATGATCATTTTCTTTTCTTTTTCTAAAGATGACCATCTAGAGTACATCCTGGGATCTACACTAAAATTTCTGTGCAGTCAGTCTCTGATTCTCATGGCCTCAGTGATAGTATAGCTGACAGAGTGTCAGTAGCCACAACCTTCTCACCACACACCTTCTCCCCACCATCACCAACACTGCAAACTCCAAATTAAAGATTCAATTGTGCACTTGAATGTACAGCATATTCAATATTTTTTGCCAGAAGCATCAAAATAAAAATGGACTTCTGGATAATCTCTTCCACTAGGAATATGACTGCCCAAACCACTCAAATCCTTACATTCAAATTAAGGGTTTTAAATCAAAAACACCTGGTAAAGCATTTCCAGACACTTTGGCATTATTTTAAACATGCAAATAGTTCAAGTAATTATTAAAACATTTTATATATTTTAAAGAGGCATTTTTTCAAAACAAGTCATTGTTCTCACATACGAAATGAGAAAACTTTGACAGTATCTGTTTCCCTAATTTTTTTTTAGTACTTCTAACAGGTTTTTCTTGGACTATTGAGTTGGTTCTTAATGCAAGCATCCATATATACATACAAATTACAAATTTCCAATTGAAAAGAATTAAGTTTGAACAAGACTTTACCAATATTCTTGCACAGTAGATGGCTGCAAATATCAGATTGTCTCAACCTTTCTTAAGCTCCTTTAAAATTAGAATACCTAGAGTTTTCTGCATTGAAAAAAATTTCACATATAGATAACAATTTTAGTAAATAACATTTTCAGAAATATATTTTATGGAAATATATATAATTAAACAAAACTTTT
|
TATAAAAAGTTTACAAAAAAATTAATGTTATTATGGGGAAGACTTAAAATCCATTCAGCAATTCCTGTTGAGTATTACAGTAAATAAAAGTATTAATAATAGCATCCACATTGATTAAGAAAATATCAGCCTGAAAGTAAAACCTACTTTTTAGATATATGTGGAAATAAGACATATCGGTAAATAAGACATATTGGTAATTGCTAAAGGCTGAAGCTTTAGAAGTAGGTAGTCACATTGGGAATCTACTAATTTGTCCCGTAAGATGTCAGTCTTTCTCTGGGAATTAAAATTAGACTTTTATCTATACTACACTGGGTTCTGTCTTCCACTGTAAGACAGAGAATTCCAAGGTTTCCATAATGTGAAACCCCCATCCCTTTTTTTGGTATGACCCTTGAGTAATTACATCAGCAAATATGTAAACGTGTTATGCTGTTGCAACAATTACTCCTGATTTGGTTACAATTATCAATATATCATCTCTACTGTCTTGGTCCTCTTCATCTTACCCATGAATGGCGGCCCTAGCCTTCTACTTGGAATTTTCACCATCTTTCCCCGTTCCACACTGCAAACTGCTACAGTCAATCTTCTTAAGCAGTGGCCTGCAAGATGGCTTGCCTAGAGTAAAAAAGCTTACACAGGCTCTCTACTGCCTATTACACAAAATCTTAACTTTGCTAACTTTGAAGATCCTCTATAATCTAGCCCCATTTATATCTCCACATCTGCCTCCCAAAATCCACTAACCTGTGCTCTTCAGTGACGTCCTGCGGGTCATCTTCTCACAACTCCCAGACTCGTCAGCCTCACTGCCTGCGTTGCTTATAAGGACAGGCTGCCATGTACACCTGGAAGGCTCCTACACTCTGCCTATCCACTTCTTATTGATGTATGAAAAACATACCCAGCTCCTCAAAACCTACCCACCCTCACAGAACTTCCCCAAGTGCCACAGCCCATCTGGAGCACTTTCTTTTCTACGACCCAAGATATTAATATTCTACACTGCAGCTGAACAACTCACCATATATTGACAGTATCTTGCATTGTGTGTGTCTAAGTGTGAGAGAGCTTGCTATCCTCTTGTATTATTTGCTAATTCAGTATGAACTGGGGCACCACAGTCACTTCTTTACACTGACGTCAATGTAACTGCAACTACACTTCTTTCATATTAACCCACTAGTCATTCAGAATAATAAATACTCGACTTTCAGAAAACACTACCATTAAATCCTCCATTAAGTCCTACCATTACAGGAAAAAAAAGGAAGACAAGTGTGAACTTTCCTAAAAAAAGGGAGATGTACTAAACGATAATAACCCCTATGATCACCCACATGGGTCCCTGTGTTTTAAGGGATAAAGCACTACAGATACTTCATCCTGCTGCCTCTTACACATCCCTCAGGACCACCACTAGTAACAGAGGAATAACCAAGGGATAGCCGTTAAGAAGTATAGCTACAGCCCGACCCAAGCCTCTTGAAGGGCATATTCTGCATCTAGCACTGGAGAAAAGCCTCGCTATTTCTGAGCAATACCCTACAAAATGTCACCCGAGAGGACAACACCCAAAATAGTTTAGATTGGTGGGCCATGAGTCCCAATGAGCCTGGGGAAACGCACATTCCACACTTGAGCTCAAACTTACCCCCTTTTTTCCCCATTTCAGTTGCCAACATCCATACTCGCTGCTGATTGCCAGCTCCTGCTCCTTGCAGCAGCCCAGCATGCTCTCTGCTGGTGCCAAAATACCCTTCCACCAAACCCCGCTAACTTCTGGAACTGTCCTAGAGGGGTAAGGCAAGTCCCGTATTTTGCTTCCTCTGTGCATGTACTTGTTACTCCTTTAAAAACACATATAATACAGCACATTTTAAAAGGGGCTCTGGGGAGGGAGGTAATATTCCTATTTTATACCCTATGGGATATAAAATACTGATAGCTTTTAAAAACGGGATTCTCCTTACCCCTACAGGCCCTCTCCCGGCTTCAGAAAGATGCTGTGGTGGCTGTGATGCCACCGGCAGAGAGCATGCTGGGGGGGTCACACAAAGCAGGAGTTGGAGATCTGCAACAGGCCTGGGAGTTGTGGACCTAAAAAAGAAAACAGTTTTAAGTTAACGTGCCCAACGCCCCATCATGCCCTGGTTATTAGGGGCACGCAGCACACAAGTCGGTATCTGCAAAAACTCTTTAGCAGATGACCTCTGAAACCTCAGATAATTTGTTCTACCACTAAAGTTAACCTTTTTGCATTAATCAAAGCTGTTACCTTATTTCAGTGTGAACAAACGTATGACCCTTCTGGCTCCACACTTTAATCCAGGTCCTATCATAAAGCAGTATGGTGTGTGCCCCTCAAAATAACCAAGTTAAGATGTGAGATAGTGCCAAAGCACAGTTAACAGCAACATGCTATGCTTATAATAAAAACAGAAATGCAATGGTGTCAGATACAACCGTAAAATGAATCACAAGTGGACAAACTGAGCTTTCAGAAGAGTTTCTAATGACAGAAGCTAGAGACATAAGACATGTACTTAATAAGGAAATAGGGCATTTGGGTGGCCAAAGAAAGGCCCTGCCATTTTCTCAAAGTTCAAGTTTAACTGTATAAAGCTGAAGGCAAAGTAAATAGACAAAGGCCCCAAAACAGAGGGAAAAAGACAATATTCACATGAGTTATAATTTTCTCCAAACGCCCACAAGGTGAGTATAATGAATAGGCACAGAGCATAAAGTTCCAGAAAGACATTACTTATTTTTATAGGCAAAACTAGTTTAGTATGTATCACGTGTCTTTTTAAAATTAACTTTGAAAACATTTAAAAACCAGGAAAAAAAAGACTATAGAGCAACTTCTGAAAGCTAGCACAGTATACCTCAGATAACAGTTTGAGTATGTTCCTTTTCAAATATTTTAGACAGCACATAACATTTTTAAACCAATTTCATGTGGTTTTGAATGAACTAAAAAAAATCCATAAAATCCCAATACTTATATAAGAACCTGTCTTACGGTTGTCTAAAAATTACAGATGAACAACCTTTTAATATTAGATCATTATTAGGGTGTCCTGTTACACATAATTCCCTTTGAAAAGCAAAGAGCAATTAACAACTTTCTGTAAACAAAGATTTTAATATATTTCATTATCTATTTTTGTAAGTCTCTTAAGCTCCCTACACATAGACACACACACACACACACAAAACAAAACAAATACCAGGAAAATAAGCTAATGTTCAGAATGTTTTATCATGATCATTTTCTTTTCTTTTTCTAAAGATGACCATCTAGAGTACATCCTGGGATCTACACTAAAATTTCTGTGCAGTCAGTCTCTGATTCTCATGGCCTCAGTGATAGTATAGCTGACAGAGTGTCAGTAGCCACAACCTTCTCACCACACACCTTCTCCCCACCATCACCAACACTGCAAACTCCAAATTAAAGATTCAATTGTGCACTTGAATGTACAGCATATTCAATATTTTTTGCCAGAAGCATCAAAATAAAAATGGACTTCTGGATAATCTCTTCCACTAGGAATATGACTGCCCAAACCACTCAAATCCTTACATTCAAATTAAGGGTTTTAAATCAAAAACACCTGGTAAAGCATTTCCAGACACTTTGGCATTATTTTAAACATGCAAATAGTTCAAGTAATTATTAAAACATTTTATATATTTTAAAGAGGCATTTTTTCAAAACAAGTCATTGTTCTCACATACGAAATGAGAAAACTTTGACAGTATCTGTTTCCCTAATTTTTTTTTAGTACTTCTAACAGGTTTTTCTTGGACTATTGAGTTGGTTCTTAATGCAAGCATCCATATATACATACAAATTACAAATTTCCAATTGAAAAGAATTAAGTTTGAACAAGACTTTACCAATATTCTTGCACAGTAGATGGCTGCAAATATCAGATTGTCTCAACCTTTCTTAAGCTCCTTTAAAATTAGAATACCTAGAGTTTTCTGCATTGAAAAAAATTTCACATATAGATAACAATTTTAGTAAATAACATTTTCAGAAATATATTTTATGGAAATATATATAATTAAACAAAACTTT
|
pathogenic
| 1,832 |
Located at chromosome 1 position 8656224, the variant affecting gene RERE (arginine-glutamic acid dipeptide repeats)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart']
|
ACTGCAGTCTCATCACACTCCCAGCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGAAA
|
ACTGCAGTCTCATCACACTCCCAGCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGA
|
pathogenic
| 1,838 |
Clinical classification of chromosome 1, position 8656247, gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
GCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGAAAACTCATGGTCCTTGTTCTCAATG
|
GCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGAAAACTCATGGTCCTTGTTC
|
benign
| 1,839 |
Assess the variant on chromosome 1, position 8656262, impacting RERE (arginine-glutamic acid dipeptide repeats): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
benign
|
TTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGAAAACTCATGGTCCTTGTTCTCAATGCTCAAATGCAACAAA
|
TTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTCATACAAAATTCATGTCACTCTTCAACAGTAAAAGTAACTCAAACAAAATGATTTCACCTAGGTTTTACTGGCTTCTGTAAGAAAGGATCTTGTTTTGTTTTTTTTTGTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTAGAAAGCAGTGGTGCAATCATGCTTCACTACAGCCTCGACCTCCCAGACTCAAGTGATGCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGTGCCACCAGGCCCAGCTAATTTGTAAAAATTTTTTGTAAAGATGGGGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTTCTGTCTCCGCCTCCCAAAGTGCTGGGATTACACTGTGCCCAGCCTAAAAAAGGTGTCTTAATACACACAATACATCAAATGAAAAGGAAAGGCTTTGCTAGTGTTCAACAGGTTTTGACTCACTTGTTTCCCTGATCTCATCTAAAAGTTGAGTCTGTCTTTTTTTGAGCAATGCTATAAGCCACAATATACTGGTGTGACCATAATACATTTTCTGGAAAACCAAGCAGGTTAGATGACTACTTCTATTATTGTTGATTAGAGAGCCTGAAGCTCAAATTTTTGGAAAAGGAAGTTAGCAGGAGCAATACATCTCTGATCTTCAGGGCTTTTTTTTTTTTCTGAGACGGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTGACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTGCACACCACCGAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTCACCACCCGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGCGTGAGCCACCATGCCTGGCCTAAAGGCCATTTTTAAAAAGTACCTCTCTAGAGTCTGGTCGATCCTGTCCCAAGGTAAAATTTCCTGTTTCCAAGAATCTTAAGGTTTACTTGTCTCCACCAAGCAGTCAATTCTGCAGGGTCACCACAGTCTCATTTATGATTGAAGATTAAAAAGCAAGCATGAATTCAAAAGACAAAAAAATACTAAGCAGATGGTCCAGTTAGAGAACAAGCAGCACAGGAAAATAAGAAAAGAACTCATGAATGCATAAACCAGGACACAAGAGCAAATTAAGGCAGACACAAGCAAGAAGTGGGTGAACCTAACTGACCAAAAGTGGGTCACATGTTTACCAAATTAAGTTTCCTACTCTTCTAGATTCCAAGCCTTCCTTAAAGTGTACAAAGCGTATTTATTTCACCATAATGCCAAGATCATTCCCCCACTGTAAACATTGGCAAGACCCAAACGTAAGGCTCCTTACCTCCTGGTCTGTAGACCACATCATCTTCAGTGATGTAGGATGTTATCTCACCGGTATCTGTCCTTTCATAACGAGACTTTTTTTTCGGTGGTTTCTTCTTATTCTTCTTCGTGGACTCCTCTGCGGTGGCACTATTGTTGTCATTGTCCTCGTCTTCACTGTGATCACTCTCAGCATAATTTTTGGCTCCTCCTTCCAAGGTACAGCTCCGGCGTGGCCTTGAATTCTCACTCTCTCTTGCTTTGTCTCTTTTCTCTCTCTCTCGGTCCCGGTCTCGGTCCCGGTCCTTCTCTTTGTCTTTGTCTTTGTCTTTGTCTTTGTCCGCTGTCATGATTCGCCACGTGCCTTCTTCTGTCCTCTCACGGCTAGGCCTCCGTGAAAGGTAGACAGTAAGCCTGGGCTTCAGTCTTCTGAATTTCTCACTCAATTCCAGGGAAAATCCAACCACTCCAACAACCCCAACGTTTCAAAAATGCTAGGAGAGAAAAAAGAATGGTTTTAACGCTTTTTCATATTTGTTTCCTAAAATAATGTTTTGTTAAATGAATCTCTTACTTATTCATGCTTTACACCTAAAAACTTCGCACAAGCCACAGGAGAAAAATTAAGTGTTAAAATTTAAAAACTACAGTTTTTGGTCTCAGCAAATGGTTTGGGGTTTTTTATGACACCAATAATAAAAACTGTCTGAATGCCTAAGAGTAAACTACACTTCCTCCACCTTACATGTTTTCTCCTTTTTAAAGAAAAAGCAAACCAATACCCTGGTAGACAACATATAATGGGTATTATTATACAAAAGGAGCTTCATAACTCATAATATTAATTTAAAGAGGAAAGAATCTGTAGTAAAAATTATTTCCAGGCCAGGCACTGCGGCTCATGCCTTGTAATCCCAGCATTTTGAGAGGCCAAGCCAGAAGGACCACTTGAAGCCAGGAGTTCAAGACCAACCCTGGCAACAAAGCGAGATCCCATCTCCAACATAAAATAAAATATTTCTACCTGAAAAAATAGTAATAGTTTGCAGCACTGTCAAAAATGTCTCAGGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGAAGATGGATCACGGGGTCAGGAGATCAAGATCATCCTTGCTAATGTGGTAAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCAGGAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGTAGTGAGCCGAGATTGTGCCACTGCACTTCAGCCTGGGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAAAAAGTCTCAGGATATCGCATAGAGCACTATATTCTAAAGATATTTTCTGGCTACTTCTACAAACTCCCAGAACTTCCTTCAAGAATAAAAATAATATTTAACTCAAACGAAAGTGAGAGCTTCAGAGCAAGATTTTTCCACCTTCAGTTACATTTTACACATCTTTTCATCCTACCATTTTCAGTTATGTTCCAAGGAAAATGATCTCTCTAAAGATGTATTACTGGCCAGGCGTGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGGGGATCACGTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCTGTCTCTACTAAACACACAAAAAGTAGCTGGGCACAGTGGCACACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTACAGTGAGCCGAGATCACACCACTGCACTCCAGTCTGGGCAAAAGACTCCATCTCAATAAAGAAAAGAAAATGTATTGTCTCTGCCTTAACAAAACATAACAGCTTCCAGAAACAAGCTTCCATCTTTCGGGAATATTAAGTGGTTTTTACAGTCTTCCAGATTTCTACTATAAATGGTATCCCTAATAAAGTACTCCCCAAAAAGAAACCCAACAAGAAAAGTCTTGAGGTTTTTAAGCGTCTGCAATGGGAAAAGTGAATCCCAAACTCCAAGCTAACACAGTTCTTACAGATATTTTATAGCAGGAAAAAATTTTGTCTTTCTAAGTCAGTTTTGGAATAGACCTAACAATAAATTTATAAATAAATAATTTATCTTTTGTTTTTCTTATGATCTTCCCCAATACCCTATCTCACTTATTCAACAAATCTTTACTAAATACTATGTGCCAAGTGTTAGAACTAAAACCACAATGGAGGAGAAAACTCATGGTCCTTGTTCTCAATGCTCAAATGC
|
benign
| 1,840 |
Subsets and Splits
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