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
|
|---|---|---|---|---|---|
Located at chromosome 1 position 25809138, the variant affecting gene SELENON (selenoprotein N)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
GGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCATCTCTCTGCTTCAAAGGGTCCTGGAGAGTACACGGGCC
|
GGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTGGTCAAAACCGGTCTGACCTTCCACAAAAGGAGATGGGGAACCCATCTCCATGGATTTGGCAGTGATGGGCTGGTCTGAGCAGATAAGTCCGCACAGACAACAAGAACTGGGGTGAGGCAGGAGCAGCACCCCTAGCCCTGGCCCCCGAGCAGAGCCCCAGCAAGCCCAGCACCCATCGCTGGCAGGTCCCCTGCAGGGGGTGGCAAGCCTACAAGCAGGACCCAGGAAGGCGGGCTCGGCCTGGCCCGGCACAGCCAGCTCTGCCTTGAGAACCGCCTGTTAAATCTGTCTCTGTGGGAGCTCCCTGCCTGCTTTCCTCCTACCTCCCACCAAGCCTGAGCTCCTGCTGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCATCTCTCTGCTTCAAAGGGTCCTGGAGAGTACACGGGCCNN
|
pathogenic
| 5,814 |
A genetic variant on chromosome 1, position 25809805, affects the gene SELENON (selenoprotein N). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Congenital_myopathy_with_fiber_type_disproportion', 'Eichsfeld_type_congenital_muscular_dystrophy']
|
TGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCATCTCTCTGCTTCAAAGGGTCCTGGAGAGTACACGGGCCATGGCTGTGCAGGCCCTTTGTGAATTGCGAGGGGCAGGGCTGGCGGATGGTGAAGTGGCTCCAGTGCCTTAGGAAGGGGCAGCCTGGTGGGGAAGAGGGCCAGGGCTCTGCAGCCAGAATCCCAGTGGCTCTGAGAGCAGGTGTTCACCTTGAGAAACCTCAGTGTCCTCATCTGGAAAGTGGAGACAGTTGCAGGTATTATGTGAGATAAAGTGTGACACAGATAATGGGCTTTGATGATGGTGTCACTCTGCCCTGGCCATCCCAGGTCTCTGAATGTGGACATGGAGTGGCTTTACGGGGCCAGTGAAAGCAGCAACATGGAGGTGGACATCGGCTACATACCCCAGGTGAGCGCACAGGAGGCTCCCATCCAGGTGGGCTCGGCTGCAGGGCCCCGCCCTCCCTCTGCAATGAGTGGAGCATTTTGGAGGGTCTCTAGGGGAGCCCCTGAGGATTCTTGCCCATCTCTGAGCCTTCCCCCTACCACTGACCTCTGGCCCAGATGGAGCTGGAGGCCACGGGCCCCTCTGTGCCCTCCGTGATCCTGGATGAGGATGGCAGCATGATCGACAGCCACCTGCCTTCAGGGGAGCCCCTGCAGTTTGTGTTTGAGGAGATCAAGTGGCAGCAGGAGCTGAGCTGGGAGGAGGCTGCCCGGCGCCTG
|
TGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTGAGCTGGCCAGTGGGACATTAGTCCCTGGGAGGAGACTTGGAGAGGAGACTGGGGAGGGAGAGTAGGGCTGCTGGAGGGCCAGGGAAGCCAGGCAGGGTGGTGGCACCCAAGGCTGGCCCATGGGCTTATGCATAGGATGGAGGTGGGACTATGTGAGGCACAGAGCCCCACCATCCCCATTCCAACCTTGCCCTCGAGCGAGCTGCTCTGGCCTGGGCTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGCAGAGGCACTGCAGCAGGGAGAGGAGCCTCTCTCTGGCGGGATATTGCTAAGCTTGTGGCCATCATAAGGGCAGGAACCTCCCTGGGGTCCATCTGCTCCCTTGGTGTGGGCTGGCTCGGGGCTTGAGGGAGACCTCCACCCACATGGTACAGGAGACCCCGGAGTCAGGTTCTCAGATTCCTGGAGCTTTGCTTTCCCCCGCCCCAGGTCTCCCGCCTCGCCCTGTCCGGCCTCCGAAACTGGACAGCCGCCGCCTCACCAAGTGCAGTGTTTGCCACCCGCCACTTCCAGCCCTTCCTTCCCCCGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCACTGGCTACCTGTCCAACAACCGCTTCTATCCACCGCCGCCCAAGGGCAAGGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCCGCCCGAGCCCAGGAGTGGCCACCCCTCTGTCTGCGCCTGGACCCCAGTGCCAGGCCTGCTCCACCTGCTCTCCTGCCTTCCTCTGGACCTGCCCCCTCCCCATGGGGCCCCTGGGCCGTCGGGTCTGGGCTGACCCCCACCCCAGCGGATCCAGGCCCAGCGGGACCCAGCAAGCCAGTACGTGCCTCCCGCCGCCCCCAGGTCATCATCCACCGGCTCCTGAGCATGTTCCACCCTCGGCCCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGCACCGGGGAGGCATGACGGTACAGCGCCCAGAGGGGAGGGCCCAGCTTGAGCCCCCCAGCTCCACCTCTCCTCCCACTGCCGTCTTGGGCAAGCAGCTTTGGCTCTCTGAGCCTCAGTTTTCTCACCTGTGGATCCGGGTGCTGATGACTTCCTCGTAAGGCACGTGAGGGTTCAGAAAGAAAAGTTGTGGAACTTGCTTGGCACGGGGCTGGTAGCCATGGTTGTGCCATCCACACAGAAGTGGGAAGGACACCCAGTCACACATGCCCTCCAGAAGCTGTGAAGGCTGGGGGAGGGGGTCCAGGCAGGGCTTCCAGAGGAGGGGCATGTGACCCGGGCCTCGAAGGATGAGCAGCATTTGGAGAGCCTCGCTGCTGCCCACTGGCCCATCCACCTCCACCCCCACACTCAGCCTCCTCTCCCTGATGATTCTGGCCAAGGCTTCCCGGGCTCCTGGGGAGAAGGTGGGCAGCTCTGGTGCAGCAGATCCCCTTCCCCACAGGATCCATGCCGAGTTCCAGCTCAGTGAGCCGCCCGACTTCCCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCATCTCTCTGCTTCAAAGGGTCCTGGAGAGTACACGGGCCATGGCTGTGCAGGCCCTTTGTGAATTGCGAGGGGCAGGGCTGGCGGATGGTGAAGTGGCTCCAGTGCCTTAGGAAGGGGCAGCCTGGTGGGGAAGAGGGCCAGGGCTCTGCAGCCAGAATCCCAGTGGCTCTGAGAGCAGGTGTTCACCTTGAGAAACCTCAGTGTCCTCATCTGGAAAGTGGAGACAGTTGCAGGTATTATGTGAGATAAAGTGTGACACAGATAATGGGCTTTGATGATGGTGTCACTCTGCCCTGGCCATCCCAGGTCTCTGAATGTGGACATGGAGTGGCTTTACGGGGCCAGTGAAAGCAGCAACATGGAGGTGGACATCGGCTACATACCCCAGGTGAGCGCACAGGAGGCTCCCATCCAGGTGGGCTCGGCTGCAGGGCCCCGCCCTCCCTCTGCAATGAGTGGAGCATTTTGGAGGGTCTCTAGGGGAGCCCCTGAGGATTCTTGCCCATCTCTGAGCCTTCCCCCTACCACTGACCTCTGGCCCAGATGGAGCTGGAGGCCACGGGCCCCTCTGTGCCCTCCGTGATCCTGGATGAGGATGGCAGCATGATCGACAGCCACCTGCCTTCAGGGGAGCCCCTGCAGTTTGTGTTTGAGGAGATCAAGTGGCAGCAGGAGCTGAGCTGGGAGGAGGCTGCCCGGCGCCTGNNNN
|
pathogenic
| 5,819 |
Gene SELENON (selenoprotein N) variant at chromosome 1, position 25811806—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
CATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCATCTCTCTGCTTCAAAGGGTCCTGGAGAGTACACGGGCCATGGCTGTGCAGGCCCTTTGTGAATTGCGAGGGGCAGGGCTGGCGGATGGTGAAGTGGCTCCAGTGCCTTAGGAAGGGGCAGCCTGGTGGGGAAGAGGGCCAGGGCTCTGCAGCCAGAATCCCAGTGGCTCTGAGAGCAGGTGTTCACCTTGAGAAACCTCAGTGTCCTCATCTGGAAAGTGGAGACAGTTGCAGGTATTATGTGAGATAAAGTGTGACACAGATAATGGGCTTTGATGATGGTGTCACTCTGCCCTGGCCATCCCAGGTCTCTGAATGTGGACATGGAGTGGCTTTACGGGGCCAGTGAAAGCAGCAACATGGAGGTGGACATCGGCTACATACCCCAGGTGAGCGCACAGGAGGCTCCCATCCAGGTGGGCTCGGCTGCAGGGCCCCGCCCTCCCTCTGCAATGAGTGGAGCATTTTGGAGGGTCTCTAGGGGAGCCCCTGAGGATTCTTGCCCATCTCTGAGCCTTCCCCCTACCACTGACCTCTGGCCCAGATGGAGCTGGAGGCCACGGGCCCCTCTGTGCCCTCCGTGATCCTGGATGAGGATGGCAGCATGATCGACAGCCACCTGCCTTCAGGGGAGCCCCTGCAGTTTGTGTTTGAGGAGATCAAGTGGCAGCAGGAGCTGAGCTGGGAGGAGGCTGCCCGGCGCCTGGAGGTGGCCATGTACCCCTTCAAGAAGGTGAGGCTGGGCAGGGGTGAAGGCCAGGGTCAGGCTGCATGGGCAGAGGCTGGGAGCTGTGGAGCAGCAGCTGGGCACAGACGCTGGTATGTGTGCAGGGCTTGCTACTGAGGCTGTCTCACTGTTGGGCCCAGCTGTGCCAGCGGGGCCTCCCCGCTGCCATTCAGAACTTGGAGGAAGAGGCCAGGTGCAATGGCTCATGCCTATAATCCAAAACTTTGGGAGGCTGAGGCAGAGAATCACTTGTGGCCAGGAGTTCAAGAGCAATCTGGGCAACATAGCGAGACCCCATATCTACAAAAGAATTTTTTTAATTACCTGGGGGTGGTGGTAGCACGCACCTGTAGTACCAAAGCTTTGGGGAGGCTGAGGCAGGAGGACTGTTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAATAAAAAATAAATGAAAATAATAATAATAAATAGAACTTGGAGGAGACATCCATCCCCTGGCTTAGTAGCACCCACTTCACACACATACAAACACACACACTAACATATATATACACACACACATACACACATATACAAACATACACAAACATATATACACATACAAATGTACATATACACAGACATACACACAAATATATATGCCTACACACAAACACACACACACACACACACACACACACACACACACACACACTTGCACACACTACAGACTCAGCCCGAGTGGGACCCTGGCCGCTTTGATGATGGCTTCGCTCTGTCTCGGTGTGGCCCCAGGTCTCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGTGCACTCAATCCTGCTGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTGAGGGGCCCGGCTGGATCTAAGGGGAGCAGTGGGAAAGTCCACACCTTGTGGGGTACCAGAGGCTCTGAGACCAATGGGACTCTTCTGTTGAGTTGTGAGGGCCTCAGGGACTGCCCATGGTAGGGGCGTGGGGTGAGGGCTTGGGGGTTTCTGTGCTGAGCCCAGAGGGAGCTACCAGATGCTGAAGAAAGGGCCCTGGCAGACTGGGTTCAAACTCAGCCATTGTCAGCTTGGTAACCTTGACCAAGTGTCTTCCCCTCTGTGAGCCTCAGTTTTCTCAATAGTAAGAGGGGATAACACACTTACCTCTCATAGCTGTGGACATGGAGGTGAAAGTGCCGCATACACTGTAAAGTGTTATATACGTGTAAGAGAAAAAATCGGGCCAGAGGCTGGGCTTGTGTTAATTGATTCAGGAAATTCACCAGAGGCCCCCTAGATGCAACGTCCTTTGGGTGTCTGGCAGTGGGCACAAAGATGAACAAAACAGTGCCCCACCCTCACCCCGTCAACCGTCAGTGCAGCAGTGGGCTGGGTGCTTGCGTCCCACAGTGAGGAAGGCAGAAGGGGTCCCTGCCCTCAAAGGGGGAGACACAGTGCAAAGGCAGACACCAAATGAGTCAGTACAAGCACGGTGAGTGTTCTACAGGGGACAGTCCAGAGTGGCACCAGAGTGTATAACTGGGGGTCAGGGAAGGCTTTGTGAAGACAGTGATATTTACGCTGAGACTTTGAAGGATGAGTAGGAGTTTCTCAAGTGACCGGATGGAGTGTTCCAGGTAGAGGAACAGCCTGTGTGAAGGCCCTGGGACACAGAGCGTTCATTGGATTTAAGAAGCTGTCACTGTCTGCAAGTCCCCAGGGCCAGGTAGAACCCCTAACCCTAATCTCAGCCCAGGATGCTGGTATATTATTGATGTTAATTCCAACTATCATTTATTCAGCACCTACTCTACCTCAGGCTCTTTGAATCTGTTATTTCACTTGGGTGCAGAGACTGTCCTGCAGCCCGTGAGGTCTCCCCAAAGCAAGATTGCACCCCAGCAAGATGTGGGGGC
|
CATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTTCCTGAAGCTGGGCCTCCCCGCCCTCATACTGCTGACAGGCCCCAGGCAGAGCTGTAACCGCAGCCTGTGCACGCCACCAAGAGGAAGGCCAGCAGCTAGGCAGGGACCCAGCTGTGGGGTCCAGGAAGGCTTCCCAGAAGAAAAAGGTCATCTCAGCAGAGATCAGGGCTCTGAGGGTTTTGCTGGGCAGAGGAACAGCACATCCAAAGGCCAAGGGCAGGCCCTCCACTGCTGCAGAGCCCCAGAGGGGCTTCCGGGACGGTGCTACACCAGCCACCTGCTTGCCTCACCTCCTCAGGGCTGGCCACCTGTCAGCAGAGTAGAGGACCCCGGAGGCCCTGGCTTCAAGTTTGTCCAGATTCCTAACTGATAGCAAGTGGCCACCGAGTGGGCCTGAGTGACCGCTCTACAGGGATGAGACCTGGCTGGGAGCCAGGAGGTCTGCAGTTAAGTCTCTGCTGTGGAACCCATTGGCTGTGTGGCTGTGGGCAAGGCCCTGGCCCTCTGTAGGCCTGTTTCCTCATCTGCCGGATGGGAGACTGACTCCTGGCCTACTTCACCCACAGGGCAGGCGTGAGAGGATGGTCGGGATAACATGGGAAGAGAAAATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCATCTCTCTGCTTCAAAGGGTCCTGGAGAGTACACGGGCCATGGCTGTGCAGGCCCTTTGTGAATTGCGAGGGGCAGGGCTGGCGGATGGTGAAGTGGCTCCAGTGCCTTAGGAAGGGGCAGCCTGGTGGGGAAGAGGGCCAGGGCTCTGCAGCCAGAATCCCAGTGGCTCTGAGAGCAGGTGTTCACCTTGAGAAACCTCAGTGTCCTCATCTGGAAAGTGGAGACAGTTGCAGGTATTATGTGAGATAAAGTGTGACACAGATAATGGGCTTTGATGATGGTGTCACTCTGCCCTGGCCATCCCAGGTCTCTGAATGTGGACATGGAGTGGCTTTACGGGGCCAGTGAAAGCAGCAACATGGAGGTGGACATCGGCTACATACCCCAGGTGAGCGCACAGGAGGCTCCCATCCAGGTGGGCTCGGCTGCAGGGCCCCGCCCTCCCTCTGCAATGAGTGGAGCATTTTGGAGGGTCTCTAGGGGAGCCCCTGAGGATTCTTGCCCATCTCTGAGCCTTCCCCCTACCACTGACCTCTGGCCCAGATGGAGCTGGAGGCCACGGGCCCCTCTGTGCCCTCCGTGATCCTGGATGAGGATGGCAGCATGATCGACAGCCACCTGCCTTCAGGGGAGCCCCTGCAGTTTGTGTTTGAGGAGATCCAAGTGGCAGCAGGAGCTGAGCTGGGAGGAGGCTGCCCGGCGCCTGGAGGTGGCCATGTACCCCTTCAAGAAGGTGAGGCTGGGCAGGGGTGAAGGCCAGGGTCAGGCTGCATGGGCAGAGGCTGGGAGCTGTGGAGCAGCAGCTGGGCACAGACGCTGGTATGTGTGCAGGGCTTGCTACTGAGGCTGTCTCACTGTTGGGCCCAGCTGTGCCAGCGGGGCCTCCCCGCTGCCATTCAGAACTTGGAGGAAGAGGCCAGGTGCAATGGCTCATGCCTATAATCCAAAACTTTGGGAGGCTGAGGCAGAGAATCACTTGTGGCCAGGAGTTCAAGAGCAATCTGGGCAACATAGCGAGACCCCATATCTACAAAAGAATTTTTTTAATTACCTGGGGGTGGTGGTAGCACGCACCTGTAGTACCAAAGCTTTGGGGAGGCTGAGGCAGGAGGACTGTTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAATAAAAAATAAATGAAAATAATAATAATAAATAGAACTTGGAGGAGACATCCATCCCCTGGCTTAGTAGCACCCACTTCACACACATACAAACACACACACTAACATATATATACACACACACATACACACATATACAAACATACACAAACATATATACACATACAAATGTACATATACACAGACATACACACAAATATATATGCCTACACACAAACACACACACACACACACACACACACACACACACACACACACTTGCACACACTACAGACTCAGCCCGAGTGGGACCCTGGCCGCTTTGATGATGGCTTCGCTCTGTCTCGGTGTGGCCCCAGGTCTCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGTGCACTCAATCCTGCTGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTGAGGGGCCCGGCTGGATCTAAGGGGAGCAGTGGGAAAGTCCACACCTTGTGGGGTACCAGAGGCTCTGAGACCAATGGGACTCTTCTGTTGAGTTGTGAGGGCCTCAGGGACTGCCCATGGTAGGGGCGTGGGGTGAGGGCTTGGGGGTTTCTGTGCTGAGCCCAGAGGGAGCTACCAGATGCTGAAGAAAGGGCCCTGGCAGACTGGGTTCAAACTCAGCCATTGTCAGCTTGGTAACCTTGACCAAGTGTCTTCCCCTCTGTGAGCCTCAGTTTTCTCAATAGTAAGAGGGGATAACACACTTACCTCTCATAGCTGTGGACATGGAGGTGAAAGTGCCGCATACACTGTAAAGTGTTATATACGTGTAAGAGAAAAAATCGGGCCAGAGGCTGGGCTTGTGTTAATTGATTCAGGAAATTCACCAGAGGCCCCCTAGATGCAACGTCCTTTGGGTGTCTGGCAGTGGGCACAAAGATGAACAAAACAGTGCCCCACCCTCACCCCGTCAACCGTCAGTGCAGCAGTGGGCTGGGTGCTTGCGTCCCACAGTGAGGAAGGCAGAAGGGGTCCCTGCCCTCAAAGGGGGAGACACAGTGCAAAGGCAGACACCAAATGAGTCAGTACAAGCACGGTGAGTGTTCTACAGGGGACAGTCCAGAGTGGCACCAGAGTGTATAACTGGGGGTCAGGGAAGGCTTTGTGAAGACAGTGATATTTACGCTGAGACTTTGAAGGATGAGTAGGAGTTTCTCAAGTGACCGGATGGAGTGTTCCAGGTAGAGGAACAGCCTGTGTGAAGGCCCTGGGACACAGAGCGTTCATTGGATTTAAGAAGCTGTCACTGTCTGCAAGTCCCCAGGGCCAGGTAGAACCCCTAACCCTAATCTCAGCCCAGGATGCTGGTATATTATTGATGTTAATTCCAACTATCATTTATTCAGCACCTACTCTACCTCAGGCTCTTTGAATCTGTTATTTCACTTGGGTGCAGAGACTGTCCTGCAGCCCGTGAGGTCTCCCCAAAGCAAGATTGCACCCCAGCAAGATGTGGGGG
|
pathogenic
| 5,833 |
Benign or pathogenic: chromosome 1, position 25812734, gene SELENON (selenoprotein N) variant? Disease(s) if pathogenic?
|
pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy']
|
ATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCATCTCTCTGCTTCAAAGGGTCCTGGAGAGTACACGGGCCATGGCTGTGCAGGCCCTTTGTGAATTGCGAGGGGCAGGGCTGGCGGATGGTGAAGTGGCTCCAGTGCCTTAGGAAGGGGCAGCCTGGTGGGGAAGAGGGCCAGGGCTCTGCAGCCAGAATCCCAGTGGCTCTGAGAGCAGGTGTTCACCTTGAGAAACCTCAGTGTCCTCATCTGGAAAGTGGAGACAGTTGCAGGTATTATGTGAGATAAAGTGTGACACAGATAATGGGCTTTGATGATGGTGTCACTCTGCCCTGGCCATCCCAGGTCTCTGAATGTGGACATGGAGTGGCTTTACGGGGCCAGTGAAAGCAGCAACATGGAGGTGGACATCGGCTACATACCCCAGGTGAGCGCACAGGAGGCTCCCATCCAGGTGGGCTCGGCTGCAGGGCCCCGCCCTCCCTCTGCAATGAGTGGAGCATTTTGGAGGGTCTCTAGGGGAGCCCCTGAGGATTCTTGCCCATCTCTGAGCCTTCCCCCTACCACTGACCTCTGGCCCAGATGGAGCTGGAGGCCACGGGCCCCTCTGTGCCCTCCGTGATCCTGGATGAGGATGGCAGCATGATCGACAGCCACCTGCCTTCAGGGGAGCCCCTGCAGTTTGTGTTTGAGGAGATCAAGTGGCAGCAGGAGCTGAGCTGGGAGGAGGCTGCCCGGCGCCTGGAGGTGGCCATGTACCCCTTCAAGAAGGTGAGGCTGGGCAGGGGTGAAGGCCAGGGTCAGGCTGCATGGGCAGAGGCTGGGAGCTGTGGAGCAGCAGCTGGGCACAGACGCTGGTATGTGTGCAGGGCTTGCTACTGAGGCTGTCTCACTGTTGGGCCCAGCTGTGCCAGCGGGGCCTCCCCGCTGCCATTCAGAACTTGGAGGAAGAGGCCAGGTGCAATGGCTCATGCCTATAATCCAAAACTTTGGGAGGCTGAGGCAGAGAATCACTTGTGGCCAGGAGTTCAAGAGCAATCTGGGCAACATAGCGAGACCCCATATCTACAAAAGAATTTTTTTAATTACCTGGGGGTGGTGGTAGCACGCACCTGTAGTACCAAAGCTTTGGGGAGGCTGAGGCAGGAGGACTGTTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAATAAAAAATAAATGAAAATAATAATAATAAATAGAACTTGGAGGAGACATCCATCCCCTGGCTTAGTAGCACCCACTTCACACACATACAAACACACACACTAACATATATATACACACACACATACACACATATACAAACATACACAAACATATATACACATACAAATGTACATATACACAGACATACACACAAATATATATGCCTACACACAAACACACACACACACACACACACACACACACACACACACACACTTGCACACACTACAGACTCAGCCCGAGTGGGACCCTGGCCGCTTTGATGATGGCTTCGCTCTGTCTCGGTGTGGCCCCAGGTCTCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGTGCACTCAATCCTGCTGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTGAGGGGCCCGGCTGGATCTAAGGGGAGCAGTGGGAAAGTCCACACCTTGTGGGGTACCAGAGGCTCTGAGACCAATGGGACTCTTCTGTTGAGTTGTGAGGGCCTCAGGGACTGCCCATGGTAGGGGCGTGGGGTGAGGGCTTGGGGGTTTCTGTGCTGAGCCCAGAGGGAGCTACCAGATGCTGAAGAAAGGGCCCTGGCAGACTGGGTTCAAACTCAGCCATTGTCAGCTTGGTAACCTTGACCAAGTGTCTTCCCCTCTGTGAGCCTCAGTTTTCTCAATAGTAAGAGGGGATAACACACTTACCTCTCATAGCTGTGGACATGGAGGTGAAAGTGCCGCATACACTGTAAAGTGTTATATACGTGTAAGAGAAAAAATCGGGCCAGAGGCTGGGCTTGTGTTAATTGATTCAGGAAATTCACCAGAGGCCCCCTAGATGCAACGTCCTTTGGGTGTCTGGCAGTGGGCACAAAGATGAACAAAACAGTGCCCCACCCTCACCCCGTCAACCGTCAGTGCAGCAGTGGGCTGGGTGCTTGCGTCCCACAGTGAGGAAGGCAGAAGGGGTCCCTGCCCTCAAAGGGGGAGACACAGTGCAAAGGCAGACACCAAATGAGTCAGTACAAGCACGGTGAGTGTTCTACAGGGGACAGTCCAGAGTGGCACCAGAGTGTATAACTGGGGGTCAGGGAAGGCTTTGTGAAGACAGTGATATTTACGCTGAGACTTTGAAGGATGAGTAGGAGTTTCTCAAGTGACCGGATGGAGTGTTCCAGGTAGAGGAACAGCCTGTGTGAAGGCCCTGGGACACAGAGCGTTCATTGGATTTAAGAAGCTGTCACTGTCTGCAAGTCCCCAGGGCCAGGTAGAACCCCTAACCCTAATCTCAGCCCAGGATGCTGGTATATTATTGATGTTAATTCCAACTATCATTTATTCAGCACCTACTCTACCTCAGGCTCTTTGAATCTGTTATTTCACTTGGGTGCAGAGACTGTCCTGCAGCCCGTGAGGTCTCCCCAAAGCAAGATTGCACCCCAGCAAGATGTGGGGGCGCCTCACCCTTCTGTCTTCCTGAACAGGTTCAGGGCGGACTCTCCGGGAGACTGTCCTGGAAAGTTCGCCCATCCTCACCCTGCTCAACGAGAGCTTCATCAGCACCTGGTCCCTGGTGAAGGAGCTGGAGGAACTGCAGGTGAGCGGGCAGGTGGCAGGAACAGGAGCGTCCGGAACAGTGGTGGGGGCCGCGGCATCAGGAGTGTGCAACTGTCCCCACAGAACAACCAGGAGAACTCGTCCCACCAGAAGCTGGCTGGCCTGCACCTGGAGAAGTACAGCTTCCCCGTGGAGATGATGATCTGCCTGCCCAATGGCACCGTGGTAGGCACCCCCACTCAGACCCCACAGGGCCCAGGCACCTCGGGGCCCCGGGAGCAACCAGCAGGAGGCGTGGATGTGCAGACTTCATCAGGCTTCGGGACTGTCCCTGCCACTTCCTGGCTGCAAAGCCTCAAGCTGGTCTCTTACCCAGTCTAAGCCTCCGTTGTCCCCGTGTAGAAACAGGAATCGTGATGCAGGTGTTGGTCATCGGGGGCTGCGCAGCAGTGAGCATAGTCCTGAGGCAGAGTCAGCGCCTCCCTAGAAACACAGCCTGGAAGGGAAGGCTCACCTTGGACCATGGCGGCCAGTCCTGGGATGGAAGGGGAGGGAGGAGCCAGGCCTTGTGACAGAGACCAGGAGAGGGCCCTGAGCCAAGATTCAAGACCCCACCTCTCCCTAAGGGCCCCTTACCTAGCACTCAGCAAGTCTTCTCACTGGGGCCTCACAGCAGCTTTGGGAGATGGATGGTCATGAATACCCATTTTATAAACAAGGAGGCCCAGAAAGTTGAGAGACTGGACAAATGTTGCAGTCAATTAAGTGCAGCTGGCTTTGAACCGAGGCCTGCCCTTGAGCCTCAGATCTCCAGCTCTTCTGATCAAA
|
ATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGTGCTGGGGCTCCCTCGTGCGGCGGATCTGCAGATTGCACTGCTCGGCTCAGATTTCCTGCTGCCCGCCAGAGGCCTGTGCAGGGACCACGGTGCTCGTTTTCATTCCTGCCCCACCCTGTGACCCGCCTTGAGGCACTGGCCATCTCTCTGCTTCAAAGGGTCCTGGAGAGTACACGGGCCATGGCTGTGCAGGCCCTTTGTGAATTGCGAGGGGCAGGGCTGGCGGATGGTGAAGTGGCTCCAGTGCCTTAGGAAGGGGCAGCCTGGTGGGGAAGAGGGCCAGGGCTCTGCAGCCAGAATCCCAGTGGCTCTGAGAGCAGGTGTTCACCTTGAGAAACCTCAGTGTCCTCATCTGGAAAGTGGAGACAGTTGCAGGTATTATGTGAGATAAAGTGTGACACAGATAATGGGCTTTGATGATGGTGTCACTCTGCCCTGGCCATCCCAGGTCTCTGAATGTGGACATGGAGTGGCTTTACGGGGCCAGTGAAAGCAGCAACATGGAGGTGGACATCGGCTACATACCCCAGGTGAGCGCACAGGAGGCTCCCATCCAGGTGGGCTCGGCTGCAGGGCCCCGCCCTCCCTCTGCAATGAGTGGAGCATTTTGGAGGGTCTCTAGGGGAGCCCCTGAGGATTCTTGCCCATCTCTGAGCCTTCCCCCTACCACTGACCTCTGGCCCAGATGGAGCTGGAGGCCACGGGCCCCTCTGTGCCCTCCGTGATCCTGGATGAGGATGGCAGCATGATCGACAGCCACCTGCCTTCAGGGGAGCCCCTGCAGTTTGTGTTTGAGGAGATCAAGTGGCAGCAGGAGCTGAGCTGGGAGGAGGCTGCCCGGCGCCTGGAGGTGGCCATGTACCCCTTCAAGAAGGTGAGGCTGGGCAGGGGTGAAGGCCAGGGTCAGGCTGCATGGGCAGAGGCTGGGAGCTGTGGAGCAGCAGCTGGGCACAGACGCTGGTATGTGTGCAGGGCTTGCTACTGAGGCTGTCTCACTGTTGGGCCCAGCTGTGCCAGCGGGGCCTCCCCGCTGCCATTCAGAACTTGGAGGAAGAGGCCAGGTGCAATGGCTCATGCCTATAATCCAAAACTTTGGGAGGCTGAGGCAGAGAATCACTTGTGGCCAGGAGTTCAAGAGCAATCTGGGCAACATAGCGAGACCCCATATCTACAAAAGAATTTTTTTAATTACCTGGGGGTGGTGGTAGCACGCACCTGTAGTACCAAAGCTTTGGGGAGGCTGAGGCAGGAGGACTGTTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAATAAAAAATAAATGAAAATAATAATAATAAATAGAACTTGGAGGAGACATCCATCCCCTGGCTTAGTAGCACCCACTTCACACACATACAAACACACACACTAACATATATATACACACACACATACACACATATACAAACATACACAAACATATATACACATACAAATGTACATATACACAGACATACACACAAATATATATGCCTACACACAAACACACACACACACACACACACACACACACACACACACACACTTGCACACACTACAGACTCAGCCCGAGTGGGACCCTGGCCGCTTTGATGATGGCTTCGCTCTGTCTCGGTGTGGCCCCAGGTCTCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAAGCTGGTGCACTCAATCCTGCTGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTGAGGGGCCCGGCTGGATCTAAGGGGAGCAGTGGGAAAGTCCACACCTTGTGGGGTACCAGAGGCTCTGAGACCAATGGGACTCTTCTGTTGAGTTGTGAGGGCCTCAGGGACTGCCCATGGTAGGGGCGTGGGGTGAGGGCTTGGGGGTTTCTGTGCTGAGCCCAGAGGGAGCTACCAGATGCTGAAGAAAGGGCCCTGGCAGACTGGGTTCAAACTCAGCCATTGTCAGCTTGGTAACCTTGACCAAGTGTCTTCCCCTCTGTGAGCCTCAGTTTTCTCAATAGTAAGAGGGGATAACACACTTACCTCTCATAGCTGTGGACATGGAGGTGAAAGTGCCGCATACACTGTAAAGTGTTATATACGTGTAAGAGAAAAAATCGGGCCAGAGGCTGGGCTTGTGTTAATTGATTCAGGAAATTCACCAGAGGCCCCCTAGATGCAACGTCCTTTGGGTGTCTGGCAGTGGGCACAAAGATGAACAAAACAGTGCCCCACCCTCACCCCGTCAACCGTCAGTGCAGCAGTGGGCTGGGTGCTTGCGTCCCACAGTGAGGAAGGCAGAAGGGGTCCCTGCCCTCAAAGGGGGAGACACAGTGCAAAGGCAGACACCAAATGAGTCAGTACAAGCACGGTGAGTGTTCTACAGGGGACAGTCCAGAGTGGCACCAGAGTGTATAACTGGGGGTCAGGGAAGGCTTTGTGAAGACAGTGATATTTACGCTGAGACTTTGAAGGATGAGTAGGAGTTTCTCAAGTGACCGGATGGAGTGTTCCAGGTAGAGGAACAGCCTGTGTGAAGGCCCTGGGACACAGAGCGTTCATTGGATTTAAGAAGCTGTCACTGTCTGCAAGTCCCCAGGGCCAGGTAGAACCCCTAACCCTAATCTCAGCCCAGGATGCTGGTATATTATTGATGTTAATTCCAACTATCATTTATTCAGCACCTACTCTACCTCAGGCTCTTTGAATCTGTTATTTCACTTGGGTGCAGAGACTGTCCTGCAGCCCGTGAGGTCTCCCCAAAGCAAGATTGCACCCCAGCAAGATGTGGGGGCGCCTCACCCTTCTGTCTTCCTGAACAGGTTCAGGGCGGACTCTCCGGGAGACTGTCCTGGAAAGTTCGCCCATCCTCACCCTGCTCAACGAGAGCTTCATCAGCACCTGGTCCCTGGTGAAGGAGCTGGAGGAACTGCAGGTGAGCGGGCAGGTGGCAGGAACAGGAGCGTCCGGAACAGTGGTGGGGGCCGCGGCATCAGGAGTGTGCAACTGTCCCCACAGAACAACCAGGAGAACTCGTCCCACCAGAAGCTGGCTGGCCTGCACCTGGAGAAGTACAGCTTCCCCGTGGAGATGATGATCTGCCTGCCCAATGGCACCGTGGTAGGCACCCCCACTCAGACCCCACAGGGCCCAGGCACCTCGGGGCCCCGGGAGCAACCAGCAGGAGGCGTGGATGTGCAGACTTCATCAGGCTTCGGGACTGTCCCTGCCACTTCCTGGCTGCAAAGCCTCAAGCTGGTCTCTTACCCAGTCTAAGCCTCCGTTGTCCCCGTGTAGAAACAGGAATCGTGATGCAGGTGTTGGTCATCGGGGGCTGCGCAGCAGTGAGCATAGTCCTGAGGCAGAGTCAGCGCCTCCCTAGAAACACAGCCTGGAAGGGAAGGCTCACCTTGGACCATGGCGGCCAGTCCTGGGATGGAAGGGGAGGGAGGAGCCAGGCCTTGTGACAGAGACCAGGAGAGGGCCCTGAGCCAAGATTCAAGACCCCACCTCTCCCTAAGGGCCCCTTACCTAGCACTCAGCAAGTCTTCTCACTGGGGCCTCACAGCAGCTTTGGGAGATGGATGGTCATGAATACCCATTTTATAAACAAGGAGGCCCAGAAAGTTGAGAGACTGGACAAATGTTGCAGTCAATTAAGTGCAGCTGGCTTTGAACCGAGGCCTGCCCTTGAGCCTCAGATCTCCAGCTCTTCTGATCAAANNN
|
pathogenic
| 5,841 |
Variant in SELENON (selenoprotein N), chromosome 1, position 25813938—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Abnormality_of_the_musculature', 'Congenital_myopathy_4A,_autosomal_dominant', 'Eichsfeld_type_congenital_muscular_dystrophy']
|
GCAGGGGTGAAGGCCAGGGTCAGGCTGCATGGGCAGAGGCTGGGAGCTGTGGAGCAGCAGCTGGGCACAGACGCTGGTATGTGTGCAGGGCTTGCTACTGAGGCTGTCTCACTGTTGGGCCCAGCTGTGCCAGCGGGGCCTCCCCGCTGCCATTCAGAACTTGGAGGAAGAGGCCAGGTGCAATGGCTCATGCCTATAATCCAAAACTTTGGGAGGCTGAGGCAGAGAATCACTTGTGGCCAGGAGTTCAAGAGCAATCTGGGCAACATAGCGAGACCCCATATCTACAAAAGAATTTTTTTAATTACCTGGGGGTGGTGGTAGCACGCACCTGTAGTACCAAAGCTTTGGGGAGGCTGAGGCAGGAGGACTGTTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAATAAAAAATAAATGAAAATAATAATAATAAATAGAACTTGGAGGAGACATCCATCCCCTGGCTTAGTAGCACCCACTTCACACACATACAAACACACACACTAACATATATATACACACACACATACACACATATACAAACATACACAAACATATATACACATACAAATGTACATATACACAGACATACACACAAATATATATGCCTACACACAAACACACACACACACACACACACACACACACACACACACACACTTGCACACACTACAGACTCAGCCCGAGTGGGACCCTGGCCGCTTTGATGATGGCTTCGCTCTGTCTCGGTGTGGCCCCAGGTCTCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGTGCACTCAATCCTGCTGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTGAGGGGCCCGGCTGGATCTAAGGGGAGCAGTGGGAAAGTCCACACCTTGTGGGGTACCAGAGGCTCTGAGACCAATGGGACTCTTCTGTTGAGTTGTGAGGGCCTCAGGGACTGCCCATGGTAGGGGCGTGGGGTGAGGGCTTGGGGGTTTCTGTGCTGAGCCCAGAGGGAGCTACCAGATGCTGAAGAAAGGGCCCTGGCAGACTGGGTTCAAACTCAGCCATTGTCAGCTTGGTAACCTTGACCAAGTGTCTTCCCCTCTGTGAGCCTCAGTTTTCTCAATAGTAAGAGGGGATAACACACTTACCTCTCATAGCTGTGGACATGGAGGTGAAAGTGCCGCATACACTGTAAAGTGTTATATACGTGTAAGAGAAAAAATCGGGCCAGAGGCTGGGCTTGTGTTAATTGATTCAGGAAATTCACCAGAGGCCCCCTAGATGCAACGTCCTTTGGGTGTCTGGCAGTGGGCACAAAGATGAACAAAACAGTGCCCCACCCTCACCCCGTCAACCGTCAGTGCAGCAGTGGGCTGGGTGCTTGCGTCCCACAGTGAGGAAGGCAGAAGGGGTCCCTGCCCTCAAAGGGGGAGACACAGTGCAAAGGCAGACACCAAATGAGTCAGTACAAGCACGGTGAGTGTTCTACAGGGGACAGTCCAGAGTGGCACCAGAGTGTATAACTGGGGGTCAGGGAAGGCTTTGTGAAGACAGTGATATTTACGCTGAGACTTTGAAGGATGAGTAGGAGTTTCTCAAGTGACCGGATGGAGTGTTCCAGGTAGAGGAACAGCCTGTGTGAAGGCCCTGGGACACAGAGCGTTCATTGGATTTAAGAAGCTGTCACTGTCTGCAAGTCCCCAGGGCCAGGTAGAACCCCTAACCCTAATCTCAGCCCAGGATGCTGGTATATTATTGATGTTAATTCCAACTATCATTTATTCAGCACCTACTCTACCTCAGGCTCTTTGAATCTGTTATTTCACTTGGGTGCAGAGACTGTCCTGCAGCCCGTGAGGTCTCCCCAAAGCAAGATTGCACCCCAGCAAGATGTGGGGGCGCCTCACCCTTCTGTCTTCCTGAACAGGTTCAGGGCGGACTCTCCGGGAGACTGTCCTGGAAAGTTCGCCCATCCTCACCCTGCTCAACGAGAGCTTCATCAGCACCTGGTCCCTGGTGAAGGAGCTGGAGGAACTGCAGGTGAGCGGGCAGGTGGCAGGAACAGGAGCGTCCGGAACAGTGGTGGGGGCCGCGGCATCAGGAGTGTGCAACTGTCCCCACAGAACAACCAGGAGAACTCGTCCCACCAGAAGCTGGCTGGCCTGCACCTGGAGAAGTACAGCTTCCCCGTGGAGATGATGATCTGCCTGCCCAATGGCACCGTGGTAGGCACCCCCACTCAGACCCCACAGGGCCCAGGCACCTCGGGGCCCCGGGAGCAACCAGCAGGAGGCGTGGATGTGCAGACTTCATCAGGCTTCGGGACTGTCCCTGCCACTTCCTGGCTGCAAAGCCTCAAGCTGGTCTCTTACCCAGTCTAAGCCTCCGTTGTCCCCGTGTAGAAACAGGAATCGTGATGCAGGTGTTGGTCATCGGGGGCTGCGCAGCAGTGAGCATAGTCCTGAGGCAGAGTCAGCGCCTCCCTAGAAACACAGCCTGGAAGGGAAGGCTCACCTTGGACCATGGCGGCCAGTCCTGGGATGGAAGGGGAGGGAGGAGCCAGGCCTTGTGACAGAGACCAGGAGAGGGCCCTGAGCCAAGATTCAAGACCCCACCTCTCCCTAAGGGCCCCTTACCTAGCACTCAGCAAGTCTTCTCACTGGGGCCTCACAGCAGCTTTGGGAGATGGATGGTCATGAATACCCATTTTATAAACAAGGAGGCCCAGAAAGTTGAGAGACTGGACAAATGTTGCAGTCAATTAAGTGCAGCTGGCTTTGAACCGAGGCCTGCCCTTGAGCCTCAGATCTCCAGCTCTTCTGATCAAAGCGACCCCTCATCCTTTAAGTCCCAAGGCATGGTTAGTGTGGGACCCAGGGCTGTAGGAGGGGGCCGGCTTCCTCAGGATCTTAGGATGGGAGCAGTTCAGGAGCAGGGGCTGTCACGGGAGAGGTGTCCAGTGAGGGTTTGGTGTAAAGGAAAGGGCACCAGGCGGAAGGCATCTGCTGTCCCAGGCGCAAGGGTGATGAGATGGTGTCGGGGAACTGGATGAGGCTGGGCCTGGTTGGGAGAACCAGGCCTCCCATTCATATGAATGTTGATTGAATGCTGATTCATTCATTTGTTCATCTACTGGGCACCTACTGTGTGCCAGGCACAAAGATAAAGACACAGCCCCGTGCTGAAGGAGCTCAGTCTCTGGAGCGAGAGGCCAAAGGAGAGGCCCATTGAATGTGAGGCTGCAGTGAGAGAAGGGAGCACGGAGTTCAGGATGGGAGTCCGGGGTCACAGGAACAGAGGAGAGGGGTCATTTCGGGGGGCGGGGGCAGAGGGCTAGTAGAAGAGGTGATGTTGGAAGGTGTTGGGTTTTCACTTGGTAGGCAAGGCAGGGAGGAGCCCCCTCGTCAGACACAGGGTGATGAGATGGTGTCGGGTGCTGGCGAGGGCTTACGGCAGCACTGCCTGCCCACCATCCACCTCAGACAAGGACAGTCAAGGCCTGATAGCATCCCTGCTTCTCCCCATAGAAGAGAGGGCACAGGGAGCCTGGGGGCCCCCCTCCGCCCCACTTGCCTCACCCGGCCCTTCTCCCAGGTCCATCACATCAATGCCAACTACTTCTTGGACATCACCTCCGTGAAGCCCGAGGAAATCGAGAGCAATCTCTTCAGCTTCTCATCCACCTTTGAAGACCCGTCCACGGCCACCTACATGCAGTTCCTGAAGGAGGGACTCCGGCGTGGCCTGCCCCTCCTCCAGCCCTAGAGTGCCTGGACGGGATCTGATGCACAGGCCCCCACGCCTCAGAGCCAGAGTGGTCCTCAGCCCATTTCAGACTGCAGATGCCGCCCACTCCCACCCCACTCCTAGGCTGCCTTGGAGGGTACAAGATCCACTGAGGGTGGCCACCACAGCCTTGGCTCCATGGTGGCGGGTAGACAAGGGATGCCTGGGCTGACTGGGCAGAGGAACCTCTAGCTCTGACTGTCACTCGGCTCTCCCTACCCATTTGGCTCTGGAAGCTGCTTGGCC
|
GCAGGGGTGAAGGCCAGGGTCAGGCTGCATGGGCAGAGGCTGGGAGCTGTGGAGCAGCAGCTGGGCACAGACGCTGGTATGTGTGCAGGGCTTGCTACTGAGGCTGTCTCACTGTTGGGCCCAGCTGTGCCAGCGGGGCCTCCCCGCTGCCATTCAGAACTTGGAGGAAGAGGCCAGGTGCAATGGCTCATGCCTATAATCCAAAACTTTGGGAGGCTGAGGCAGAGAATCACTTGTGGCCAGGAGTTCAAGAGCAATCTGGGCAACATAGCGAGACCCCATATCTACAAAAGAATTTTTTTAATTACCTGGGGGTGGTGGTAGCACGCACCTGTAGTACCAAAGCTTTGGGGAGGCTGAGGCAGGAGGACTGTTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAATAAAAAATAAATGAAAATAATAATAATAAATAGAACTTGGAGGAGACATCCATCCCCTGGCTTAGTAGCACCCACTTCACACACATACAAACACACACACTAACATATATATACACACACACATACACACATATACAAACATACACAAACATATATACACATACAAATGTACATATACACAGACATACACACAAATATATATGCCTACACACAAACACACACACACACACACACACACACACACACACACACACACTTGCACACACTACAGACTCAGCCCGAGTGGGACCCTGGCCGCTTTGATGATGGCTTCGCTCTGTCTCGGTGTGGCCCCAGGTCTCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGTGCACTCAATCCTGCTGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTGAGGGGCCCGGCTGGATCTAAGGGGAGCAGTGGGAAAGTCCACACCTTGTGGGGTACCAGAGGCTCTGAGACCAATGGGACTCTTCTGTTGAGTTGTGAGGGCCTCAGGGACTGCCCATGGTAGGGGCGTGGGGTGAGGGCTTGGGGGTTTCTGTGCTGAGCCCAGAGGGAGCTACCAGATGCTGAAGAAAGGGCCCTGGCAGACTGGGTTCAAACTCAGCCATTGTCAGCTTGGTAACCTTGACCAAGTGTCTTCCCCTCTGTGAGCCTCAGTTTTCTCAATAGTAAGAGGGGATAACACACTTACCTCTCATAGCTGTGGACATGGAGGTGAAAGTGCCGCATACACTGTAAAGTGTTATATACGTGTAAGAGAAAAAATCGGGCCAGAGGCTGGGCTTGTGTTAATTGATTCAGGAAATTCACCAGAGGCCCCCTAGATGCAACGTCCTTTGGGTGTCTGGCAGTGGGCACAAAGATGAACAAAACAGTGCCCCACCCTCACCCCGTCAACCGTCAGTGCAGCAGTGGGCTGGGTGCTTGCGTCCCACAGTGAGGAAGGCAGAAGGGGTCCCTGCCCTCAAAGGGGGAGACACAGTGCAAAGGCAGACACCAAATGAGTCAGTACAAGCACGGTGAGTGTTCTACAGGGGACAGTCCAGAGTGGCACCAGAGTGTATAACTGGGGGTCAGGGAAGGCTTTGTGAAGACAGTGATATTTACGCTGAGACTTTGAAGGATGAGTAGGAGTTTCTCAAGTGACCGGATGGAGTGTTCCAGGTAGAGGAACAGCCTGTGTGAAGGCCCTGGGACACAGAGCGTTCATTGGATTTAAGAAGCTGTCACTGTCTGCAAGTCCCCAGGGCCAGGTAGAACCCCTAACCCTAATCTCAGCCCAGGATGCTGGTATATTATTGATGTTAATTCCAACTATCATTTATTCAGCACCTACTCTACCTCAGGCTCTTTGAATCTGTTATTTCACTTGGGTGCAGAGACTGTCCTGCAGCCCGTGAGGTCTCCCCAAAGCAAGATTGCACCCCAGCAAGATGTGGGGGCGCCTCACCCTTCTGTCTTCCTGAACAGGTTCAGGGCGGACTCTCCGGGAGACTGTCCTGGAAAGTTCGCCCATCCTCACCCTGCTAACGAGAGCTTCATCAGCACCTGGTCCCTGGTGAAGGAGCTGGAGGAACTGCAGGTGAGCGGGCAGGTGGCAGGAACAGGAGCGTCCGGAACAGTGGTGGGGGCCGCGGCATCAGGAGTGTGCAACTGTCCCCACAGAACAACCAGGAGAACTCGTCCCACCAGAAGCTGGCTGGCCTGCACCTGGAGAAGTACAGCTTCCCCGTGGAGATGATGATCTGCCTGCCCAATGGCACCGTGGTAGGCACCCCCACTCAGACCCCACAGGGCCCAGGCACCTCGGGGCCCCGGGAGCAACCAGCAGGAGGCGTGGATGTGCAGACTTCATCAGGCTTCGGGACTGTCCCTGCCACTTCCTGGCTGCAAAGCCTCAAGCTGGTCTCTTACCCAGTCTAAGCCTCCGTTGTCCCCGTGTAGAAACAGGAATCGTGATGCAGGTGTTGGTCATCGGGGGCTGCGCAGCAGTGAGCATAGTCCTGAGGCAGAGTCAGCGCCTCCCTAGAAACACAGCCTGGAAGGGAAGGCTCACCTTGGACCATGGCGGCCAGTCCTGGGATGGAAGGGGAGGGAGGAGCCAGGCCTTGTGACAGAGACCAGGAGAGGGCCCTGAGCCAAGATTCAAGACCCCACCTCTCCCTAAGGGCCCCTTACCTAGCACTCAGCAAGTCTTCTCACTGGGGCCTCACAGCAGCTTTGGGAGATGGATGGTCATGAATACCCATTTTATAAACAAGGAGGCCCAGAAAGTTGAGAGACTGGACAAATGTTGCAGTCAATTAAGTGCAGCTGGCTTTGAACCGAGGCCTGCCCTTGAGCCTCAGATCTCCAGCTCTTCTGATCAAAGCGACCCCTCATCCTTTAAGTCCCAAGGCATGGTTAGTGTGGGACCCAGGGCTGTAGGAGGGGGCCGGCTTCCTCAGGATCTTAGGATGGGAGCAGTTCAGGAGCAGGGGCTGTCACGGGAGAGGTGTCCAGTGAGGGTTTGGTGTAAAGGAAAGGGCACCAGGCGGAAGGCATCTGCTGTCCCAGGCGCAAGGGTGATGAGATGGTGTCGGGGAACTGGATGAGGCTGGGCCTGGTTGGGAGAACCAGGCCTCCCATTCATATGAATGTTGATTGAATGCTGATTCATTCATTTGTTCATCTACTGGGCACCTACTGTGTGCCAGGCACAAAGATAAAGACACAGCCCCGTGCTGAAGGAGCTCAGTCTCTGGAGCGAGAGGCCAAAGGAGAGGCCCATTGAATGTGAGGCTGCAGTGAGAGAAGGGAGCACGGAGTTCAGGATGGGAGTCCGGGGTCACAGGAACAGAGGAGAGGGGTCATTTCGGGGGGCGGGGGCAGAGGGCTAGTAGAAGAGGTGATGTTGGAAGGTGTTGGGTTTTCACTTGGTAGGCAAGGCAGGGAGGAGCCCCCTCGTCAGACACAGGGTGATGAGATGGTGTCGGGTGCTGGCGAGGGCTTACGGCAGCACTGCCTGCCCACCATCCACCTCAGACAAGGACAGTCAAGGCCTGATAGCATCCCTGCTTCTCCCCATAGAAGAGAGGGCACAGGGAGCCTGGGGGCCCCCCTCCGCCCCACTTGCCTCACCCGGCCCTTCTCCCAGGTCCATCACATCAATGCCAACTACTTCTTGGACATCACCTCCGTGAAGCCCGAGGAAATCGAGAGCAATCTCTTCAGCTTCTCATCCACCTTTGAAGACCCGTCCACGGCCACCTACATGCAGTTCCTGAAGGAGGGACTCCGGCGTGGCCTGCCCCTCCTCCAGCCCTAGAGTGCCTGGACGGGATCTGATGCACAGGCCCCCACGCCTCAGAGCCAGAGTGGTCCTCAGCCCATTTCAGACTGCAGATGCCGCCCACTCCCACCCCACTCCTAGGCTGCCTTGGAGGGTACAAGATCCACTGAGGGTGGCCACCACAGCCTTGGCTCCATGGTGGCGGGTAGACAAGGGATGCCTGGGCTGACTGGGCAGAGGAACCTCTAGCTCTGACTGTCACTCGGCTCTCCCTACCCATTTGGCTCTGGAAGCTGCTTGGCCN
|
pathogenic
| 5,852 |
Does the variant impacting TRIM63 (tripartite motif containing 63) on chromosome 1, position 26061184, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Hypertrophic_cardiomyopathy', 'Inborn_genetic_diseases']
|
TGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATACGCTACCACGCCTGGCTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCTGCATCATTTGGTCCTAGGAGAGGTGGAAAAACAGCTCCTTTCCTAGCACCCTCCTCAACCGAAGCTCCCTTCTCTCTATGTTCTTTTCTATAAAATGGGTGTGACAATAGCATCTCATCAGACCGGGAGCCTCTCGTGGGTGATCACAATGTTCCCCTCCTTCCTACCCTTCGCCCAACTCTTCATCCACTAGCAATTATGATGACCCCTTCCCCTCATCTCATCTCCAGATCCCTACCCCAAGTGAACATGGAAAATCGTGGAAGCTTTTTTCAGGGATAGAAAAGTTCCCTTCTGCCCTCAACAGTCTCACTACTCAACATGTGGTCTGTGGACCCAGCAGCTTGGGCAAATCCTGGGAACTGGCTAGAAATGCAGCTCTTATGCCTCATTCCAAACCAACTGAATCAAAACCTGAATTTCAACATGATCCCAGCGTAATTTTCACGCACTTCAAAGTTTGGGAAGTGTTGGTCTACAGCACACTGAAGAACTGTGCTCTGAAAACAATTTGTGCTGAATAAATACTGAGAATTATTGATGGGACACTCCCTGAGCTCAGGGACCACGTCTGTCTGGTTCACTCCTCCATCCCCCACATCTTGGGTGGGGCCGGACACACAGCTGTGCTTAAGAAGCATTTGTTGAGAGACTGGATGAATGGATTAGTCCCTCCCCTGCCATCCCTGCTTGACCGCCCCAGGCTCCGGGCCCCAACCTTTAGCCACAACCTATGGGTGAGCCTTCCCCAGAGACCAGGCTGCCCTGGAAAGCTCCAAATCCCCAGGCAGGACTATTCTGTCCGCTCACCTTGGTCACTCGACGGGAATCCTCCAGCTGAGTGATGATGGTCTGCACACGGTCATTCCCCGCCACCAGCATGGAGATACAGTTATTCAGTTCAGTCTAGATGGGGGTGTGGGGGTCAGGAGAGGAGAGACACAAATAGCCTCAGGGCCTACCCACTGGGGCATGGCAGCAACATGGCTTCCTCCCTCCCCTCTCTGCTAGAAAGAGCCTCCAGTAGGGATCTGGCCCCTCTTTCGGGTATAGCTCAGCTCCAGAGTAGAGGATATTAGAAAGATACTGCATCCCTTATTTTACAGGTGAGGCCAACAGCAGGCAAGTGAGCTGCCCAAAACACACAGCAAGGAACTGACAGAGGAGGGGCTTGTTTCTAAGAAAGAAGGGACAAAAAAAGAAATAGAGTTGGAGACGTCTAGAAGAGAGAGACCTAGAGAAGAGTGGGGAGTAGGGAAGAGAGAGTATGGAAAGGGGGTGGCTACGGCTTACTGCACGGACAGGGTGGTGGGCCCTCACAGGCCCAGGGACCCAGGGAGAAGGCTCTAAGCTGCCTCCTGCTGTGGGGGAATGTGAAGTCTTGGAGAAGAGGTGAGAGGCACAGGAAGAGGTGTCTGGGGGATGGAGAAGCCGTGGCCTGAGAGGACCCCAGTGGCCTGGCTGGGGCGTCTGACCGCTCCCCTGTGGCCACACCCAGGTGCTCTCGAGTGGCTCTAAGTATAACCATGAGCTCAGCTGCCTCCCCTAGGAAGGCCAGGGCTGCTGTCCCTGTGGCCTGGGAAGTCCCTCCAGAGAGACTATTCCTGAAAGGCCAGATCAGCAGATCTACAGGGATCAAATCTGCCTCCTGAATCATCAGGCCGTGCCCAGCAGGCCCAGGCTGGGGGTAAAAGTGGCTGGAGACAGTACCTTTTGTCCCTGGAAGACACTCTGCAATGGGGCCACCTCGCAGGCCTTGTGGATCCCAAACACCTTGCACATGGAGCAGGTGGGCACCTCACACGTGAGACAGTAGATGTTGATTTTCTCATCTTCGTGCTCCTTGCACATGGGGTGACTGCCCTTCTGCAGCGGCCGACTGCAGTGGAGAACAGTCACAAGTCATGGGGGTCCTGTGTCCCTGCATCCCCCTCCCCAGCTCCAATGCACCAGTCGCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTCAGCCCAGGAATTCGAGGCTGCAGTGTGTCTGTGAATCTCCAGATTTATGCCCTGGGCCCTCAGTGTTTGGCTGCCCTAAAATCTTTCATCTTCTGGGGACCAAGGACTTGGGAAGCCAATGACACCAAATCTGTCCCCACATCCTAAGAGGGAGTTAGCCTGAGGCTCTGCCAGTGCCAAGGACACAGAAAGGGCCATAGAATTCCAGAGTCAGACCTGGAGATGTTTTAGAGAAGAGGAAACTGGGCTCCAGAAAAGTGAATTGACTCGTCCAAGGTCATACAGCAAGTAAGGGCAGAGGAGCCTAGAGTTCAGTTGCTCTAATTATAGTCACCTTAGCTTTGGTTACTGCAGGCTGGGCTCTGAGCTGAGAAATTTATACTGATGGCCTCATTTAATTCTATATTTAATCTACCAGACTGTAACCTCCATCAAGGTAGGGAAACTTGCCTGTTTTCTTCACCCCTGTGCCTACACTGTACAGTGCCTGGCATAGAGGAGGTGGTAATTAAACAAAGGTAGAAAGAATAAATCAATAAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGAGTCACCTGAGGTCAGGAGTTCAAGACCAGCTTGACCAATATGATGAAACCCCGTCTCTACTAAAAACTCAAAAAAATTAACCAGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAACCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAATAAATTAATAACTAGCATAGGAATCAATAATATTCACCATCTTGAATTTATTAACATTCTCCATAAGAAAACAATTTTTTTAAAAAAGAATATTCACCACAGAGTCAGTCATACCCTCTCTCTTTCTCTTAGCTTCACCACTTTCTAGCTGTATGGCCTTGGATAAACCTCTGACCCTCTCTGAGCCATGAGGTTGCCCCTGAGGCTCAGAGAAGGAGCAGTGTGTATGCCCCATGTCATGGTGACTGGTGAGTGGGTAGCCCAGGGCTGTCCAACAGCCCAGCACAAGCCTGACTTCTAGTCCAGAGATTCTTTCAAAGGCCCAAGTCTCTTCCTCTACTTTCTCCCCTAACACATATGCTTAGAACTACCTTTCTTCCTTGAGACCTCCAACCTGTTATTTGTGCTTCTCTTGGGACATCAGTCATTTCCTAACCTAGATTCATTGGGGCCTGGGGGGGATTTTTTTGTTGTTGTGTTGTTCTGTTTTGATTTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTAGCTCACTGCAAACTCCACCTCCTGAGTTTCTGATGCCTCAGCCTCCTGAGTAGCTGAGATTACAGACGTGCACCACCATGCCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCATGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCACAGCACCCAGCCTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGGGTCTCACCATATTGTCCAGGCTGGAGTGCAGCAGCGATTCACAGATACACTGCAGCCTCGAACTCCTGGGCTGAGCAATCCTCCTACCTCAGTCTCCCCAGTAGCTGCAACTGGTGCATACCACCATGCCTGGTG
|
TGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATACGCTACCACGCCTGGCTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCTGCATCATTTGGTCCTAGGAGAGGTGGAAAAACAGCTCCTTTCCTAGCACCCTCCTCAACCGAAGCTCCCTTCTCTCTATGTTCTTTTCTATAAAATGGGTGTGACAATAGCATCTCATCAGACCGGGAGCCTCTCGTGGGTGATCACAATGTTCCCCTCCTTCCTACCCTTCGCCCAACTCTTCATCCACTAGCAATTATGATGACCCCTTCCCCTCATCTCATCTCCAGATCCCTACCCCAAGTGAACATGGAAAATCGTGGAAGCTTTTTTCAGGGATAGAAAAGTTCCCTTCTGCCCTCAACAGTCTCACTACTCAACATGTGGTCTGTGGACCCAGCAGCTTGGGCAAATCCTGGGAACTGGCTAGAAATGCAGCTCTTATGCCTCATTCCAAACCAACTGAATCAAAACCTGAATTTCAACATGATCCCAGCGTAATTTTCACGCACTTCAAAGTTTGGGAAGTGTTGGTCTACAGCACACTGAAGAACTGTGCTCTGAAAACAATTTGTGCTGAATAAATACTGAGAATTATTGATGGGACACTCCCTGAGCTCAGGGACCACGTCTGTCTGGTTCACTCCTCCATCCCCCACATCTTGGGTGGGGCCGGACACACAGCTGTGCTTAAGAAGCATTTGTTGAGAGACTGGATGAATGGATTAGTCCCTCCCCTGCCATCCCTGCTTGACCGCCCCAGGCTCCGGGCCCCAACCTTTAGCCACAACCTATGGGTGAGCCTTCCCCAGAGACCAGGCTGCCCTGGAAAGCTCCAAATCCCCAGGCAGGACTATTCTGTCCGCTCACCTTGGTCACTCGACGGGAATCCTCCAGCTGAGTGATGATGGTCTGCACACGGTCATTCCCCGCCACCAGCATGGAGATACAGTTATTCAGTTCAGTCTAGATGGGGGTGTGGGGGTCAGGAGAGGAGAGACACAAATAGCCTCAGGGCCTACCCACTGGGGCATGGCAGCAACATGGCTTCCTCCCTCCCCTCTCTGCTAGAAAGAGCCTCCAGTAGGGATCTGGCCCCTCTTTCGGGTATAGCTCAGCTCCAGAGTAGAGGATATTAGAAAGATACTGCATCCCTTATTTTACAGGTGAGGCCAACAGCAGGCAAGTGAGCTGCCCAAAACACACAGCAAGGAACTGACAGAGGAGGGGCTTGTTTCTAAGAAAGAAGGGACAAAAAAAGAAATAGAGTTGGAGACGTCTAGAAGAGAGAGACCTAGAGAAGAGTGGGGAGTAGGGAAGAGAGAGTATGGAAAGGGGGTGGCTACGGCTTACTGCACGGACAGGGTGGTGGGCCCTCACAGGCCCAGGGACCCAGGGAGAAGGCTCTAAGCTGCCTCCTGCTGTGGGGGAATGTGAAGTCTTGGAGAAGAGGTGAGAGGCACAGGAAGAGGTGTCTGGGGGATGGAGAAGCCGTGGCCTGAGAGGACCCCAGTGGCCTGGCTGGGGCGTCTGACCGCTCCCCTGTGGCCACACCCAGGTGCTCTCGAGTGGCTCTAAGTATAACCATGAGCTCAGCTGCCTCCCCTAGGAAGGCCAGGGCTGCTGTCCCTGTGGCCTGGGAAGTCCCTCCAGAGAGACTATTCCTGAAAGGCCAGATCAGCAGATCTACAGGGATCAAATCTGCCTCCTGAATCATCAGGCCGTGCCCAGCAGGCCCAGGCTGGGGGTAAAAGTGGCTGGAGACAGTACCTTTTGTCCCTGGAAGACACTGCAATGGGGCCACCTCGCAGGCCTTGTGGATCCCAAACACCTTGCACATGGAGCAGGTGGGCACCTCACACGTGAGACAGTAGATGTTGATTTTCTCATCTTCGTGCTCCTTGCACATGGGGTGACTGCCCTTCTGCAGCGGCCGACTGCAGTGGAGAACAGTCACAAGTCATGGGGGTCCTGTGTCCCTGCATCCCCCTCCCCAGCTCCAATGCACCAGTCGCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTCAGCCCAGGAATTCGAGGCTGCAGTGTGTCTGTGAATCTCCAGATTTATGCCCTGGGCCCTCAGTGTTTGGCTGCCCTAAAATCTTTCATCTTCTGGGGACCAAGGACTTGGGAAGCCAATGACACCAAATCTGTCCCCACATCCTAAGAGGGAGTTAGCCTGAGGCTCTGCCAGTGCCAAGGACACAGAAAGGGCCATAGAATTCCAGAGTCAGACCTGGAGATGTTTTAGAGAAGAGGAAACTGGGCTCCAGAAAAGTGAATTGACTCGTCCAAGGTCATACAGCAAGTAAGGGCAGAGGAGCCTAGAGTTCAGTTGCTCTAATTATAGTCACCTTAGCTTTGGTTACTGCAGGCTGGGCTCTGAGCTGAGAAATTTATACTGATGGCCTCATTTAATTCTATATTTAATCTACCAGACTGTAACCTCCATCAAGGTAGGGAAACTTGCCTGTTTTCTTCACCCCTGTGCCTACACTGTACAGTGCCTGGCATAGAGGAGGTGGTAATTAAACAAAGGTAGAAAGAATAAATCAATAAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGAGTCACCTGAGGTCAGGAGTTCAAGACCAGCTTGACCAATATGATGAAACCCCGTCTCTACTAAAAACTCAAAAAAATTAACCAGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAACCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAATAAATTAATAACTAGCATAGGAATCAATAATATTCACCATCTTGAATTTATTAACATTCTCCATAAGAAAACAATTTTTTTAAAAAAGAATATTCACCACAGAGTCAGTCATACCCTCTCTCTTTCTCTTAGCTTCACCACTTTCTAGCTGTATGGCCTTGGATAAACCTCTGACCCTCTCTGAGCCATGAGGTTGCCCCTGAGGCTCAGAGAAGGAGCAGTGTGTATGCCCCATGTCATGGTGACTGGTGAGTGGGTAGCCCAGGGCTGTCCAACAGCCCAGCACAAGCCTGACTTCTAGTCCAGAGATTCTTTCAAAGGCCCAAGTCTCTTCCTCTACTTTCTCCCCTAACACATATGCTTAGAACTACCTTTCTTCCTTGAGACCTCCAACCTGTTATTTGTGCTTCTCTTGGGACATCAGTCATTTCCTAACCTAGATTCATTGGGGCCTGGGGGGGATTTTTTTGTTGTTGTGTTGTTCTGTTTTGATTTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTAGCTCACTGCAAACTCCACCTCCTGAGTTTCTGATGCCTCAGCCTCCTGAGTAGCTGAGATTACAGACGTGCACCACCATGCCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCATGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCACAGCACCCAGCCTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGGGTCTCACCATATTGTCCAGGCTGGAGTGCAGCAGCGATTCACAGATACACTGCAGCCTCGAACTCCTGGGCTGAGCAATCCTCCTACCTCAGTCTCCCCAGTAGCTGCAACTGGTGCATACCACCATGCCTGGTGNN
|
pathogenic
| 5,880 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 26183819, gene CNKSR1 (connector enhancer of kinase suppressor of Ras 1). What disease(s) is it linked to if pathogenic?
|
benign
|
GTCTCTGAGGTGAGTAATTGGTGAGTAATTGGCTCTGAGTGGTTAAGCATAGTCCCTTAACCACTGTGCTATTCTTCCCCTGCCAGGTACCTCTTCTCCCACTTAAATGATTTCTCAGCATGCCAGGAGATCCGAGACTTGTTGGAGGAGCTGAGCCAGGTCTTGCATGAGGTAGGAGAACCAAGGGCCAGGCTTGGCCCATGCCCTAGAGACCAAGCTGGGCTAGAGCTTTTTATAACCTGTGAATCAGCCCAGGATCGAGTATGAGGATTGAGACGGGCGAGAAAGGAGGAGAGGAGGCCCTGCCACTGGGTATGGGACAATGGGGCCTGGGGTCCCCTAGCTGGCAGGGGAATTTTGACACTCAGGACAGGGAAGGAGGGGAGGGCACGTGTGGTGACTTCTGGGGGCCTGGTATCAGGGAAACGAGCCCTCTGGTTAAAACGCTGAGGCCCTGTGGTTCTGGGCAGGGGGCCAGTGTAGGGAAGGCAGGGAGGGACTGTACGGAATCCCACCCTGCCCCCAGGAGAAGGCAGTCCCCTTATGGCCCTTGCTCAGGGGAGGCCCCTGCTCTCTCATTCTACTTCCAGGATGGTCCAGCGGCTGAGAAGGAGGGCACAGTCCTGAGGATCGTGAGTCTGTGGGGTGGGAAGAGAGTGGGGGTAGGGGCGATCGGGCTCAGGCTACATAGCCCGCTCCCCTCCCCCAGTGCAGCCACGTGGCTGGGATCTGCCACAACATCCTGGTCTGCTGCCCCAAGGAGCTGCTGGAACAGAAGGCCGTGCTCGAGCAGGTGCAGCTGGACAGTCCATTGGTGAGCCCTGCCCTCCCACCTCTCACTTCTGACCCCTTGGCAGCCTTGTCTGGGCCCTGAAATAGGGTCCAGGATCCCACAGAACCCTGTGCTGCCATGGCTGGAAAGCCTTTTTTGTACAGATGCTAAAATGGAGGCCCAGAGGATTGGCCAGGGTCTCCCGTTGCTCTGCACCTCCCCAGTCCTGAGGGGCCACGCGGGTGTGGCCTCAGGTAGTGTGTTCCAGCCTTGGGATGGAGACGGGGCAGGGGCTTGGGGGCAGTTAGGAGAAAGGGAGAGGATGTGACCTTTCTTGGTTTAATCTTTGACCAGTGGGGAAGACCAGAGCCCTATCCCTGCCCTGTCCCTGCTTGTCCCTTTAGGAATGTTGCTGAGAAGCTGGTACCTCAGAAATCAGGGTCTCCAGCTTCCCTCTGGCTCTTAGCAGAGGAGAAGGCAGAGGCCCACAGGAGTAGCAAGTCCAAAGTCATACAGCAAGTCTGGGCAGGACCAGCTTGGGGTCAGCTCTTGCCACAGTTCCACCCACCATAGAGTCCTGGTGTCTGGCGGGGGTCCTGCCTATTGGCCCTGTTGCCCCCCAGCCCCCGGTGACTATAGCCTCTGCCTCTGCAGGGCCTAGAAATTCACACCACCAGCAATTGCCAGCACTTTGTGTCCCAAGTGGACACCCAGGTGAGAGCCCCACACCCTTCTCAGCCGCCCATCCCCGAGGCCTCTCACCTGCAAGCCAGGCCAACCTCAGGCCCCATTCCCCACGTCAGGTTCCCACTGACTCCCGACTGCAGATCCAGCCTGGAGACGAGGTTGTCCAGATCAACGAGCAGGTGGTGGTGCGTGAGGAGAGGGACATGGTAGGAGGTGAAGGGGTCACCGAGTGGAACCCAAGTCTGGTGGGTGGGGAGGCAACCAAGGGTTCTGACCAGGGTTGTGGGAGCTGCCTTCCAGGAGATGAGCCAGCTAAGTCTGGTGAGAGCATCCTCTGCAGAGCCCAGGTGATGGGGCCCATGGAAGCCCCCAGGAGGCTGCATGAGTGGGAGGCAGAAGTGGGAGGCTGAGAGAGAGCTCCCAGCACGAGGGTGAGAGTTGGTGGTTGCTTTAGAGCCTCCTGCCCAGGTTGATACCAGCCAGTGTTTCTGTCCCCCAGGTGGGATGGCCCCGTAAGAACATGGTGAGGGAACTGCTGCGGGAGCCAGCCGGACTCAGCTTAGTGCTGAAGAAGATCCCGATACCGGAGACCCCCCCACAGGTACCTTCCCCTGCCGCCCCCCGACCTGCCTTCAGACCCCCCCCTCCACAGGTACCTGCCCCCACCACCCCCACACCTGCCTTCAGACCCCCCCCAACAGGCACCTTCCCCTGCTGCGCCCCCCTAGCTCCCTTCAGACCCCCCCACAGGTACCTGCTCCTGCTGCTCCCCTACCCCTGTTGCCCCCCAACCTGCTTTCAGACCCCTGTCTCCATTGCTTTGTTCCTGGTTGTTCCCCAGACGCCCCCTCAGGTCCTGGACTCCCCGCACCAGAGGAGCCCATCACTGTCTCTGGCCCCACTGTCTCCCAGGTAACAGGCTCTGTCCAGGTGTGTCTTGGTGGGGAGACCGTGGGCTCATCTCATCCCCCTTGCCCTCCCCAGGGCCCCATCTGAAGACGTCTTTGCCTTTGACCTGTCTTCAAACCCCAGTCCCGGACCCAGCCCTGCCTGGACAGGTAGTCTCAAAGCTCCATGGATGCCCCGGACACGGCATCTGGGCACCCAGTTCTGACCCCAAGCCTGGGACTGGGCTCATAGACTTTCCCTCTCTCTCCTCCCTCCCTGACAGACTCTGCCTCCCTTGGCCCTGAGCCCCTGCCCATCCCCCCGGAACCCCCAGCCATACTCCCAGCAGGGGTAGCAGGGACTCCAGGGCTCCCTGAATCCCCTGACAAGGTAAGCTCAGGGGCTTAGCAAGGGGGTGGGTGGGTCTGGACCTAGATCCTTCTCTCACCCTTCTGCTGTCCTTTCAGAGTCCTGTTGGTCGGAAGAAATCAAAAGGTATGAGGTGCGCTGGACTAGGTGGGGGTTCCCCTGTTTGAGGAGCTGTTAAAAATCTTTACATGCTGGGCAAGACCACCCCCATCCTTCCCACACAGCCTCTCCTGGAAACAGCTCTGTTTCTAGGGTCAGACAGAGCTGTGCTCCCAGTCTGGGCCTCTCACCAGACTAGAGGCTAACCTGTTTGCTGTGACTGAGCAAACAGGTTAGCCTCTAGTCTTCAGTTTGCTCATCTCTAAAATAAGAAGGGTCATCCCACCTCAGAGATGACACATGTAGCATTCTGAGCAGAGTGTGGGTTCAGAGATCTCACTTGGGGATGCTTGTGGAAGGCAGGGAGTAGGTTTAGCGGGGGCACCTTGCCAGCCCCTCACTGCCCAGCTTGTGCTGTGCTGCTACAGGCCTGGCGACCCGGCTGAGCCGCCGGCGGGTGTCATGCCGTGAGCTGGGCCGGCCGGACTGTGACGGCTGGCTCCTGTTGCGAAAGGCACCGGGCGGCTTCATGGGCCCGCGCTGGCGCCGCCGCTGGTTTGTGCTCAAGGGACACACGCTCTACTGGTACCGCCAGCCCCAGGTAAGACCCCATACACAAAAACAGGTAGGCAAGTGAGTCACTTCCAGGCCTCGATTCTCATCTCTATTCTATCATCCACTCTTATTCCTGGTCCAAGGCTTTGATGTCCCCATCTGTAAAATGGGGACTTTATTCAGAGAGAAATGAGTTAATATATGTATAAAAGCAGTTTGGAAAAGGTATCATAGGAGGTATAGAGAAAAATCTTTTTTTTTTTTTTTTTGGAGACAAAGTCTCACTCTGTTGCCCAGGCCGGAGTGCAGTGGCATCATCTCGGCTCACTGCAAGCTCTACCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAACTACAGGCGCCCGCCACAACGCCCAGCATATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCCTGAAAAATCTGGGCAACATAGCAAGATGGAGTCTTGCTATGTTGCCCAGCCTTGTCTCAAACTCCTGGGCTCAAGCGTTCTGCCTGCTTCAGCCCGCCAGAATGCTGGGATTATAGGCGTGAGCCACCACATCTGGCCGAAAAATCACGTCTATTCTGCCCACTTCTCCTTATC
|
GTCTCTGAGGTGAGTAATTGGTGAGTAATTGGCTCTGAGTGGTTAAGCATAGTCCCTTAACCACTGTGCTATTCTTCCCCTGCCAGGTACCTCTTCTCCCACTTAAATGATTTCTCAGCATGCCAGGAGATCCGAGACTTGTTGGAGGAGCTGAGCCAGGTCTTGCATGAGGTAGGAGAACCAAGGGCCAGGCTTGGCCCATGCCCTAGAGACCAAGCTGGGCTAGAGCTTTTTATAACCTGTGAATCAGCCCAGGATCGAGTATGAGGATTGAGACGGGCGAGAAAGGAGGAGAGGAGGCCCTGCCACTGGGTATGGGACAATGGGGCCTGGGGTCCCCTAGCTGGCAGGGGAATTTTGACACTCAGGACAGGGAAGGAGGGGAGGGCACGTGTGGTGACTTCTGGGGGCCTGGTATCAGGGAAACGAGCCCTCTGGTTAAAACGCTGAGGCCCTGTGGTTCTGGGCAGGGGGCCAGTGTAGGGAAGGCAGGGAGGGACTGTACGGAATCCCACCCTGCCCCCAGGAGAAGGCAGTCCCCTTATGGCCCTTGCTCAGGGGAGGCCCCTGCTCTCTCATTCTACTTCCAGGATGGTCCAGCGGCTGAGAAGGAGGGCACAGTCCTGAGGATCGTGAGTCTGTGGGGTGGGAAGAGAGTGGGGGTAGGGGCGATCGGGCTCAGGCTACATAGCCCGCTCCCCTCCCCCAGTGCAGCCACGTGGCTGGGATCTGCCACAACATCCTGGTCTGCTGCCCCAAGGAGCTGCTGGAACAGAAGGCCGTGCTCGAGCAGGTGCAGCTGGACAGTCCATTGGTGAGCCCTGCCCTCCCACCTCTCACTTCTGACCCCTTGGCAGCCTTGTCTGGGCCCTGAAATAGGGTCCAGGATCCCACAGAACCCTGTGCTGCCATGGCTGGAAAGCCTTTTTTGTACAGATGCTAAAATGGAGGCCCAGAGGATTGGCCAGGGTCTCCCGTTGCTCTGCACCTCCCCAGTCCTGAGGGGCCACGCGGGTGTGGCCTCAGGTAGTGTGTTCCAGCCTTGGGATGGAGACGGGGCAGGGGCTTGGGGGCAGTTAGGAGAAAGGGAGAGGATGTGACCTTTCTTGGTTTAATCTTTGACCAGTGGGGAAGACCAGAGCCCTATCCCTGCCCTGTCCCTGCTTGTCCCTTTAGGAATGTTGCTGAGAAGCTGGTACCTCAGAAATCAGGGTCTCCAGCTTCCCTCTGGCTCTTAGCAGAGGAGAAGGCAGAGGCCCACAGGAGTAGCAAGTCCAAAGTCATACAGCAAGTCTGGGCAGGACCAGCTTGGGGTCAGCTCTTGCCACAGTTCCACCCACCATAGAGTCCTGGTGTCTGGCGGGGGTCCTGCCTATTGGCCCTGTTGCCCCCCAGCCCCCGGTGACTATAGCCTCTGCCTCTGCAGGGCCTAGAAATTCACACCACCAGCAATTGCCAGCACTTTGTGTCCCAAGTGGACACCCAGGTGAGAGCCCCACACCCTTCTCAGCCGCCCATCCCCGAGGCCTCTCACCTGCAAGCCAGGCCAACCTCAGGCCCCATTCCCCACGTCAGGTTCCCACTGACTCCCGACTGCAGATCCAGCCTGGAGACGAGGTTGTCCAGATCAACGAGCAGGTGGTGGTGCGTGAGGAGAGGGACATGGTAGGAGGTGAAGGGGTCACCGAGTGGAACCCAAGTCTGGTGGGTGGGGAGGCAACCAAGGGTTCTGACCAGGGTTGTGGGAGCTGCCTTCCAGGAGATGAGCCAGCTAAGTCTGGTGAGAGCATCCTCTGCAGAGCCCAGGTGATGGGGCCCATGGAAGCCCCCAGGAGGCTGCATGAGTGGGAGGCAGAAGTGGGAGGCTGAGAGAGAGCTCCCAGCACGAGGGTGAGAGTTGGTGGTTGCTTTAGAGCCTCCTGCCCAGGTTGATACCAGCCAGTGTTTCTGTCCCCCAGGTGGGATGGCCCCGTAAGAACATGGTGAGGGAACTGCTGCGGGAGCCAGCCGGACTCAGCTTAGTGCTGAAGAAGATCCCGATACCGGAGACCCCCCACAGGTACCTTCCCCTGCCGCCCCCCGACCTGCCTTCAGACCCCCCCCTCCACAGGTACCTGCCCCCACCACCCCCACACCTGCCTTCAGACCCCCCCCAACAGGCACCTTCCCCTGCTGCGCCCCCCTAGCTCCCTTCAGACCCCCCCACAGGTACCTGCTCCTGCTGCTCCCCTACCCCTGTTGCCCCCCAACCTGCTTTCAGACCCCTGTCTCCATTGCTTTGTTCCTGGTTGTTCCCCAGACGCCCCCTCAGGTCCTGGACTCCCCGCACCAGAGGAGCCCATCACTGTCTCTGGCCCCACTGTCTCCCAGGTAACAGGCTCTGTCCAGGTGTGTCTTGGTGGGGAGACCGTGGGCTCATCTCATCCCCCTTGCCCTCCCCAGGGCCCCATCTGAAGACGTCTTTGCCTTTGACCTGTCTTCAAACCCCAGTCCCGGACCCAGCCCTGCCTGGACAGGTAGTCTCAAAGCTCCATGGATGCCCCGGACACGGCATCTGGGCACCCAGTTCTGACCCCAAGCCTGGGACTGGGCTCATAGACTTTCCCTCTCTCTCCTCCCTCCCTGACAGACTCTGCCTCCCTTGGCCCTGAGCCCCTGCCCATCCCCCCGGAACCCCCAGCCATACTCCCAGCAGGGGTAGCAGGGACTCCAGGGCTCCCTGAATCCCCTGACAAGGTAAGCTCAGGGGCTTAGCAAGGGGGTGGGTGGGTCTGGACCTAGATCCTTCTCTCACCCTTCTGCTGTCCTTTCAGAGTCCTGTTGGTCGGAAGAAATCAAAAGGTATGAGGTGCGCTGGACTAGGTGGGGGTTCCCCTGTTTGAGGAGCTGTTAAAAATCTTTACATGCTGGGCAAGACCACCCCCATCCTTCCCACACAGCCTCTCCTGGAAACAGCTCTGTTTCTAGGGTCAGACAGAGCTGTGCTCCCAGTCTGGGCCTCTCACCAGACTAGAGGCTAACCTGTTTGCTGTGACTGAGCAAACAGGTTAGCCTCTAGTCTTCAGTTTGCTCATCTCTAAAATAAGAAGGGTCATCCCACCTCAGAGATGACACATGTAGCATTCTGAGCAGAGTGTGGGTTCAGAGATCTCACTTGGGGATGCTTGTGGAAGGCAGGGAGTAGGTTTAGCGGGGGCACCTTGCCAGCCCCTCACTGCCCAGCTTGTGCTGTGCTGCTACAGGCCTGGCGACCCGGCTGAGCCGCCGGCGGGTGTCATGCCGTGAGCTGGGCCGGCCGGACTGTGACGGCTGGCTCCTGTTGCGAAAGGCACCGGGCGGCTTCATGGGCCCGCGCTGGCGCCGCCGCTGGTTTGTGCTCAAGGGACACACGCTCTACTGGTACCGCCAGCCCCAGGTAAGACCCCATACACAAAAACAGGTAGGCAAGTGAGTCACTTCCAGGCCTCGATTCTCATCTCTATTCTATCATCCACTCTTATTCCTGGTCCAAGGCTTTGATGTCCCCATCTGTAAAATGGGGACTTTATTCAGAGAGAAATGAGTTAATATATGTATAAAAGCAGTTTGGAAAAGGTATCATAGGAGGTATAGAGAAAAATCTTTTTTTTTTTTTTTTTGGAGACAAAGTCTCACTCTGTTGCCCAGGCCGGAGTGCAGTGGCATCATCTCGGCTCACTGCAAGCTCTACCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAACTACAGGCGCCCGCCACAACGCCCAGCATATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCCTGAAAAATCTGGGCAACATAGCAAGATGGAGTCTTGCTATGTTGCCCAGCCTTGTCTCAAACTCCTGGGCTCAAGCGTTCTGCCTGCTTCAGCCCGCCAGAATGCTGGGATTATAGGCGTGAGCCACCACATCTGGCCGAAAAATCACGTCTATTCTGCCCACTTCTCCTTATCN
|
benign
| 5,894 |
Does the variant impacting DHDDS (dehydrodolichyl diphosphate synthase subunit) on chromosome 1, position 26442810, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Retinitis_pigmentosa_59']
|
AGAGGCAGCTCTTCAGCTTGTTTCTTCTGTTCTGTTTGAATGTCTTCTGTTGTCTACGTTTAACCTCCCGCTCTCCATCTCTCAACATTGTCCTCCACCTCTCAACATTGTTCTCCACCTTTAGTGGTACAGGATTAGAGCAGCCCCAAAGGACTAAGTTTTCTTCTTTTTTTTTTTTTTTGAGACGGAGTGTTGCTCTGTCACCCAGGCTGGGGTGCAGTGGCGCGATCTCAGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCCTGCGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGTTTCACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCCCGGCCTGTTTTTTTTTGAGTTGAAGTCTCACTCTGTAGTCTAGGCTGGAGTGCAGTGGTGAGATCTCCACTCACTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAATACAGGTGTGCGCCACCGCACCCAGCTAAGTTTCTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGGCTTGAACTCCCAACCTCAGGTAATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGGTTATAGGAGAGACCCACCACACCCAGCCAGTTTCATTTCTTTTTGAGTTATAATTTCATATGGTGAACTGCACAGATTTTAGGTTTTGACAATTGCATTTATTTATCTAACCCATACCCCTGTCAAGATATAGGACATTTCCTGCCGGGCTCAGTAGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCAGGCAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAGCATGGCGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCCAGATGTGGTGGCACATGCCTGTAGGCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCAGCTTAAAAAAAAAAAAAAAAAAAGATGTAGGACATTTCCATCTCTCCAAAAAAATTCCCTGGTGCCCCTTCTCAATCAACTTCTGTTCTACCTCCTCCTTTTCCTCTCTAGGCAACTACCGTTCTGATTTCTGTAACTATAAATTTGTTTTTCCCATTCTAGAACTCCATATAATGGAATCAGACAGTTGAGGATTTTTGACATATTCTTCAACTCTGAGCCTGTTTTATCATTTGTAAAGTAGGCATGAAAACAGTAGTGTCATTTTAAAGTGGTTGTTCAAAGAATCAAATGAAATTATGTGAAAACCCTTTGCAGGCTATTAAATGCTACACAGCTGTCCAGTTGTTGCTTTTTTTCTTTTAACTCAGCCTCTCAACCTACCAGAATAATGAAGTTATGCTGTGAGTAATAACACCTTGTGTTTTTATATTGTTCGTTAGCCACCTTGTAAGGGATGGATTGTGATCCCATATTACAGGTAAGGAGACTTCAACCTAGAGAAATTAAATGATTTGATTCCAGTCACATAAGTGCATGCTGGAGTCAGGGACTAGAGCCTATGTCTTTACACTCTCAGTGCAGAGTTCTTTCTTGTAGTGCACAATGCCATCAGCATTCACTAAGATCACATTTTTCAGTTTCTTCAATGGTGGTTTTCTGCTTATTTGATGCATTAATTCTGACATAAACACTGATGTTATCCTAGCTTCACCCAGCTTTGGGGAGGAGAAAAGTCTGTCTCCTATCTCCAACTCTGAGTCAGGACCAAAAAGTATCTCTTATTTCCCCTTCCCACTCTTCCTTGTATCCTAGCTCCTTGCCTTCTCCCCTCTCAGACTCTGCGGTGGTGTTTGAACCTGGGCATCCTAGAGGTGACAGTCTACGCATTCAGCATTGAGAACTTCAAACGCTCCAAGAGTGAGGTAGACGGGCTTATGGATCTGGCCCGGCAGAAGTTCAGCCGCTTGATGGAAGAAAAGTAAGATGCTATCAGAGGGGAGAGCATGTTCTTCCACCACCCCCAGCCTTATCCTAACCCTTGAAATTCTGTTATCTGAGGCTTACTTAAGGGACTTGCAACTCTTTTTAATGTTAGTTAGATATCTTGGGTGGCAAATATCAGAAATACAAGATAGTCTTTCATTCTTTATTTCTAACTTTTTAATAAAAAAGGGGGCATTTATTTGAGGATATTGAGGGGTGTCACATGATTTAAGAACAAGTACAGCCAGCCTCAAGCAAAACTGAAACCAGGAATTAAACCCACTAGGTAGAACCTCTGTATTCATTTATTTCCACCTCTCTCTGCAGACCAGTTTTCTCTTGCTTCAAAAGAGCAGCCTGGAATCAATAAAATCCCTTAATTGGGATCCCTAAATTCTATCAGATTTCTACCCCAGAGCCAATAAACTATGGCCAAGGAAGTGGAGTTAAAGAAAACATTGAGGAAGTCATTTTCTGCTGCACAGTGAACCCTAAAAAGTTACTGTACTCCCCCTGCATAGTCTTTTGGGAGGGATAGGATGATGCATAAGAGACATTTATGGGGAAGCATCAGTACCATTCTTAGCTGTCAGTAAGTTTAGGCTTAACTTAGGGAATAAAGCCAGAGAGGGGCAAAGACAAATTTCAGTGGAGACTGCTTGCTTCAAAGTATGGAGCCCTTACCAGCCAGAATTGCCCGAAAGTCTTAGTTACAACTGTTGTGTGCCCAGCTCCTACCTGTACCAGGAAGATGAGAGAACAGTGAGCCTAGAACTCCAGTGAAGATGAGCCTAGAACAATGGGTGGTAGGGAGGGTAGCCAGGCTTCCTTCTGTCTATATTAGGATGGTGAGACTCTGGGCTACAGACATTGCTCCCCGGTCCCCAGCAGAGCCTGTGTGGCTCAGAGTTTACACCTAAGGAGCCGGGGATGGAGGCATGGGGGGCATATCCCACTAATCTTACCTTTTTAAAGTGTTTACTATATGCCAGGCTTTGAGCCTAAAATATATTCTTACTCATCCTGTAATCACATTATACCATGACAAAGATATTATTAGCCAATTTTTAGAGAGAAGGAAAGTAGTTAACCAAAGAAGTTAAGGCATATATCCTGGGTCACACAGCTATCAGACAGGCAGAGCCAAGGTGCACACCTGGATCTTTTTGACTCCAGAGCTGAGCTATCATCTACTACACTGTGCTCTGAGAGACAGACCATATTACAATTCCTGCAAGATCAAAACGCATGGCAGAAGAGATGCTAATGAGATTGCGCTGATCAGTTAGTAGTAGAGAAAATGGTCTTCGTTTATCATGAAGTCCTGGCAAAAGCAAGAAGAAACTCAGAGGTGCTTTTCCATTAATGTGCCACAGAACCCCAAGGTCTGAGGAGGTGTAGAAAGAACCTAGTGGGAATGGGGTAGGGGGTGCTGAGTTGCATTTACCTATTTTATGTGTTGGGCTTCTGTGTAGAATTTGATTTGAAGAAAGGGTTCTTTGGCTAAAAGAAGGTGGGAAAACCACTGGCCTGATTCTGTTTCATCAGTTGGGAAACTAAACCCTAGTAAAGAGAAGAGGTTGAGCAAGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAAGCCAAGGAGGGTACATTGCTTGAGTCCAGGAATTTGCTTGATTCCAGCCTAGGCAACATGGCAAAACCCCATCTCTACAAAAAAATACAAAAAAATTAACTGGGGATGGTGGCACATGCCTATAATCCCAGCTATGTGGGAGGCTGAAGTGGGGGGATCACTGTGATGAGCCTGGGGAGTCTGAGGCTGCAATGAGCTGTGATCGATCCACTATGCTCCATCCTGTGCAACAGATCGAGACCCTGTCTCAGAAAAAATAATTAAAAATAAGTAAATTAAAATTTTAAAAAACAGAAGACAAGAGCTTACACATGGTCACACATCAAACTAGTGGCAGAACTATACCACAAGCTAGC
|
AGAGGCAGCTCTTCAGCTTGTTTCTTCTGTTCTGTTTGAATGTCTTCTGTTGTCTACGTTTAACCTCCCGCTCTCCATCTCTCAACATTGTCCTCCACCTCTCAACATTGTTCTCCACCTTTAGTGGTACAGGATTAGAGCAGCCCCAAAGGACTAAGTTTTCTTCTTTTTTTTTTTTTTTGAGACGGAGTGTTGCTCTGTCACCCAGGCTGGGGTGCAGTGGCGCGATCTCAGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCCTGCGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGTTTCACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCCCGGCCTGTTTTTTTTTGAGTTGAAGTCTCACTCTGTAGTCTAGGCTGGAGTGCAGTGGTGAGATCTCCACTCACTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAATACAGGTGTGCGCCACCGCACCCAGCTAAGTTTCTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGGCTTGAACTCCCAACCTCAGGTAATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGGTTATAGGAGAGACCCACCACACCCAGCCAGTTTCATTTCTTTTTGAGTTATAATTTCATATGGTGAACTGCACAGATTTTAGGTTTTGACAATTGCATTTATTTATCTAACCCATACCCCTGTCAAGATATAGGACATTTCCTGCCGGGCTCAGTAGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCAGGCAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAGCATGGCGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCCAGATGTGGTGGCACATGCCTGTAGGCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCAGCTTAAAAAAAAAAAAAAAAAAAGATGTAGGACATTTCCATCTCTCCAAAAAAATTCCCTGGTGCCCCTTCTCAATCAACTTCTGTTCTACCTCCTCCTTTTCCTCTCTAGGCAACTACCGTTCTGATTTCTGTAACTATAAATTTGTTTTTCCCATTCTAGAACTCCATATAATGGAATCAGACAGTTGAGGATTTTTGACATATTCTTCAACTCTGAGCCTGTTTTATCATTTGTAAAGTAGGCATGAAAACAGTAGTGTCATTTTAAAGTGGTTGTTCAAAGAATCAAATGAAATTATGTGAAAACCCTTTGCAGGCTATTAAATGCTACACAGCTGTCCAGTTGTTGCTTTTTTTCTTTTAACTCAGCCTCTCAACCTACCAGAATAATGAAGTTATGCTGTGAGTAATAACACCTTGTGTTTTTATATTGTTCGTTAGCCACCTTGTAAGGGATGGATTGTGATCCCATATTACAGGTAAGGAGACTTCAACCTAGAGAAATTAAATGATTTGATTCCAGTCACATAAGTGCATGCTGGAGTCAGGGACTAGAGCCTATGTCTTTACACTCTCAGTGCAGAGTTCTTTCTTGTAGTGCACAATGCCATCAGCATTCACTAAGATCACATTTTTCAGTTTCTTCAATGGTGGTTTTCTGCTTATTTGATGCATTAATTCTGACATAAACACTGATGTTATCCTAGCTTCACCCAGCTTTGGGGAGGAGAAAAGTCTGTCTCCTATCTCCAACTCTGAGTCAGGACCAAAAAGTATCTCTTATTTCCCCTTCCCACTCTTCCTTGTATCCTAGCTCCTTGCCTTCTCCCCTCTCAGACTCTGCGGTGGTGTTTGAACCTGGGCATCCTAGAGGTGACAGTCTACGCATTCAGCATTGAGAACTTCAAACGCTCCAAGAGGTAGACGGGCTTATGGATCTGGCCCGGCAGAAGTTCAGCCGCTTGATGGAAGAAAAGTAAGATGCTATCAGAGGGGAGAGCATGTTCTTCCACCACCCCCAGCCTTATCCTAACCCTTGAAATTCTGTTATCTGAGGCTTACTTAAGGGACTTGCAACTCTTTTTAATGTTAGTTAGATATCTTGGGTGGCAAATATCAGAAATACAAGATAGTCTTTCATTCTTTATTTCTAACTTTTTAATAAAAAAGGGGGCATTTATTTGAGGATATTGAGGGGTGTCACATGATTTAAGAACAAGTACAGCCAGCCTCAAGCAAAACTGAAACCAGGAATTAAACCCACTAGGTAGAACCTCTGTATTCATTTATTTCCACCTCTCTCTGCAGACCAGTTTTCTCTTGCTTCAAAAGAGCAGCCTGGAATCAATAAAATCCCTTAATTGGGATCCCTAAATTCTATCAGATTTCTACCCCAGAGCCAATAAACTATGGCCAAGGAAGTGGAGTTAAAGAAAACATTGAGGAAGTCATTTTCTGCTGCACAGTGAACCCTAAAAAGTTACTGTACTCCCCCTGCATAGTCTTTTGGGAGGGATAGGATGATGCATAAGAGACATTTATGGGGAAGCATCAGTACCATTCTTAGCTGTCAGTAAGTTTAGGCTTAACTTAGGGAATAAAGCCAGAGAGGGGCAAAGACAAATTTCAGTGGAGACTGCTTGCTTCAAAGTATGGAGCCCTTACCAGCCAGAATTGCCCGAAAGTCTTAGTTACAACTGTTGTGTGCCCAGCTCCTACCTGTACCAGGAAGATGAGAGAACAGTGAGCCTAGAACTCCAGTGAAGATGAGCCTAGAACAATGGGTGGTAGGGAGGGTAGCCAGGCTTCCTTCTGTCTATATTAGGATGGTGAGACTCTGGGCTACAGACATTGCTCCCCGGTCCCCAGCAGAGCCTGTGTGGCTCAGAGTTTACACCTAAGGAGCCGGGGATGGAGGCATGGGGGGCATATCCCACTAATCTTACCTTTTTAAAGTGTTTACTATATGCCAGGCTTTGAGCCTAAAATATATTCTTACTCATCCTGTAATCACATTATACCATGACAAAGATATTATTAGCCAATTTTTAGAGAGAAGGAAAGTAGTTAACCAAAGAAGTTAAGGCATATATCCTGGGTCACACAGCTATCAGACAGGCAGAGCCAAGGTGCACACCTGGATCTTTTTGACTCCAGAGCTGAGCTATCATCTACTACACTGTGCTCTGAGAGACAGACCATATTACAATTCCTGCAAGATCAAAACGCATGGCAGAAGAGATGCTAATGAGATTGCGCTGATCAGTTAGTAGTAGAGAAAATGGTCTTCGTTTATCATGAAGTCCTGGCAAAAGCAAGAAGAAACTCAGAGGTGCTTTTCCATTAATGTGCCACAGAACCCCAAGGTCTGAGGAGGTGTAGAAAGAACCTAGTGGGAATGGGGTAGGGGGTGCTGAGTTGCATTTACCTATTTTATGTGTTGGGCTTCTGTGTAGAATTTGATTTGAAGAAAGGGTTCTTTGGCTAAAAGAAGGTGGGAAAACCACTGGCCTGATTCTGTTTCATCAGTTGGGAAACTAAACCCTAGTAAAGAGAAGAGGTTGAGCAAGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAAGCCAAGGAGGGTACATTGCTTGAGTCCAGGAATTTGCTTGATTCCAGCCTAGGCAACATGGCAAAACCCCATCTCTACAAAAAAATACAAAAAAATTAACTGGGGATGGTGGCACATGCCTATAATCCCAGCTATGTGGGAGGCTGAAGTGGGGGGATCACTGTGATGAGCCTGGGGAGTCTGAGGCTGCAATGAGCTGTGATCGATCCACTATGCTCCATCCTGTGCAACAGATCGAGACCCTGTCTCAGAAAAAATAATTAAAAATAAGTAAATTAAAATTTTAAAAAACAGAAGACAAGAGCTTACACATGGTCACACATCAAACTAGTGGCAGAACTATACCACAAGCTAGCNNNN
|
pathogenic
| 5,921 |
Variant in DHDDS (dehydrodolichyl diphosphate synthase subunit), chromosome 1, position 26460040—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Developmental_delay_and_seizures_with_or_without_movement_abnormalities', 'Retinitis_pigmentosa_59']
|
CCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACTCAAGTCTCTATCCCCTGTTAACTTGGTCCCTGGAGAGCACATAACTAGGGGAAGTCCTTGTTCTGGGAGAGACTCCATTTGGAAGCAGCTCACATGATAAAGCTCCAGAAATTTTAATGGACCACAATCTTAAAAGTGAGCTAACGCAGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGTCCAGCCAACATGGTGAACCCCTGTCTCTACTAAAAATACAGAAATTAGCCTGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTAGGTGAATGAGGTGGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGAGGCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCGCAAAAAAAAAAAAAAAAAAAGAAAAGAAATAAGTACAATGTGCACCTATTGGTTCTGTGGCCCACTGTGCTGCTCAGATCACGTTTGGGAAGTTTACTGATGGGCTGAATTTTAAGAGACTACAGAGTCAGTTACTCAGTGTACAGAATTAGTTACATTGACAAACTTGAGGACTTACTGGAAGAGGCCAAACTGGAAAGCAAGGAATCTCATGTCTTACAAAAAATGAGGAAAGGATAGTGGTCTGCAAAAGGGAAATAAGTGACAATGTATTCCCTTGGAAAAAAGTGTTGAGTTCCTTCTTTATGCTGGAAATATGGCAGTGAGTGAGTCAGAAATGATCCCTACTGTCTTGAAACTTATAGTTTGCTAGCAAAGACAAACTCTGAACAAGTCATTACAACTTTGGGAACTGATAACAGGCAGCTCTAATCTAGCCTTGAAATACTTGAAAGAATGTCACTTTGAAGAAGAAACAAACTTGTTCCAGAAAAAATACCTGGGACCTTAGTAGAAGTTGTAGGGAAGGTGACATTGGTTTAGCATAAAAAGCCAAACAGGCTATCGGACAACTAGTTATCCCCCATGAGGTACTGAATTCCTCACCACTAGAGATATCAGGCAGTGGCTGTCAAGAGTGTTCCAAAGGGGATTCTTCATCAGTGATTATTATTAAAGTACACCTGGCTCTTTGCTATGCATATGTTATCTCATTTAATCTAAACAGTACCCTGAAAATTAGGTATTCCTATTATCCAGTTTTACATTTGAGGAATCTCAGGCCAGGTGAAATTACCCCTGCTCAAATAAATGGTAAATGGTTGGAGCCAAAATTCAAAGCCAGGCAGTCTGGCTCCAGAGCTCATGCTCTCAACCACTGTGCCCTGCTGCTGGTACTTAAAAATAACAATGGCAGCTACCATTTGTTCATTGGTGACCTTTATCAGACAGTATGTCTTCCAGATGCCCTCTAAGGGCCAAGAGCCAATAACATAATCCAGATGTTATTTCATAGTCCTAAAATTGGCTCTTAGAAAAATCCTGGTGGAAATGTTGATCTAGTCTCGTTTTAGTTCTGCTTTACCACAGGCAGGTGATCTGGCTGCCTCAAGTGACGCCTCCCCCTACTAGTGAATGAATCAGGGCCAGCAGCAGCTGCAGCTACAGCTCAGGATGCCTGTAACATTGTCATCTCTGGGCTTCTGGGTCCTGCTTAGCCTGCTTTTTCCCTGGAGGACTGACCAGGGATGCGGCCCAGCAACATGTTACTAAATCATACTCTCCTCCCTACCTTTCCCAGACCTCTCACTCCTGCCTGGTGTTCCAACCCGTTCTGTGGCCAGAGTATACATTTTGGAACCTCTTCGAGGCCATCCTGCAGTTCCAGATGAACCATAGCGTGCTTCAGGTAAGAAAGAGTTCAGGGCTGGCCAGATGGGATGGGATGGAAGAAAAGATTAGCATTGATTGACAACCACCTTACTATATACCAGGCACTTCCTAATAAGATGATGATAATGATGATAGTAGCTACCACCTACTGAGTATCTACTACTTGTCAGGCACTGCGAACATTTTACATGCTGCAACTCATTTAATGTTCCCAAGAACCCAATGAGGGAAGTCTTATTAGCCCCTCCCTTATGTAAGTAAGCAAACAGAAATGATTTAGTTAAGGACACATAATCAGTAAGAGGTAGGAATAGGATTTGAGCTACAGGTCTTTTATCTTTTAAAGACTCAGGAGGAAAAGGCTTCTCAGAGAAACTGGCCATTATTCCTTTAAAGTATTACCCTAATAAAAGATCGTAGCAGTAGGGATTAAGAACTAAATAGCATTGTCTTTCCATTGTGTAAACCTATGTTGTGTCAAGACTTGAAGTTTGACTTTCAGTTTTCATCACCAAATCTTGAAACAGGTTTTATTAGCAGTCACCTGTATATGATTAGGTCTCTTTATAATAATGGTAGTGGTAGCTAACATATGAGGATCTACGAGGGCACTTAGGTGATTTCATGTAAGTTTTCTTATTTAACCTAACAACCCAGCAGTTTTGGTGTCCTCATTTTTCATATATGGAACCAGAGGGGCAGAGAGACTTAAGTAACTGTCCCAAGGAACCTGAATTTTATCTTTATTTATTTATTTATTTTGAGATGGGGTTTTGCTCTTGTTGCCCAGGCCGGAGTGCAGTGGTGCGATCTGGGCTCACTGCAACCTCCCCCTCCTGGGTTTGAACGATTCTCCTGTCTCAGCCTCCCAACTAGCTGGGATTACAGGCACACGCCACCATGCCTGGCTAATTTTTGTATTTTCAGTAGAGACAGTGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGAGCCTGAATTTTAAAATCAAAGCTGGTGCTGCTTCTTCAGTCTGGAGAGATAATGCCAGGAGGAAATAATGATGTGAGTCAGGGATTCTTAATCTCCTTGGTATTGGGGTCCCTTTGAATAATCTAATGAAAGCCACAGACCATCTCCCTAGAAAAATCGCAGATCACTCAAATGTGGAATTTTGCATAGAATTGTAAACTTATCATGGAAACACATAGAATACTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGCGGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACCGAAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCACCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCAATCCCAACTAATTTTGTATTTTTAATAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCTTTACCTCAGGTGATCCGCCCGCCTTGGCTTCCCAAAGTGATGGGATTACAGGCATGAGCCACCAAGCCCGGCCACACATAGAATACTTTAAGGGGGTTCACATAACTGCTGAAATCTGCCCCTGAATCCCAAGTCCATAACTCCTGCTATAAGTAAATCAAATCACAAAGACTTGATCATGTATTTAATTACTTAGTCTCAGAATATGAGGAAATTAAAAGAAGTTTAGAATTAGTGAAAAGAAAAACAGCAAAGGCACAATTATCCACTGTCAGTGGGGAATGAATATCAGATTTTTCCATATGACCAAAGCTCCCTCTAAAAACTAAAACTTTACCCTTTTTTGATGGAAAAATTTCTAAAATGTATCTTGTACATAATTCATTGAAATCTATATACCAGGCACTTGCTAATAATGATGATGATTAGGATAATCACGTGCTATTTTTTGTTTTTTTTTTTTTTTAGCAGGGTCT
|
CCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACTCAAGTCTCTATCCCCTGTTAACTTGGTCCCTGGAGAGCACATAACTAGGGGAAGTCCTTGTTCTGGGAGAGACTCCATTTGGAAGCAGCTCACATGATAAAGCTCCAGAAATTTTAATGGACCACAATCTTAAAAGTGAGCTAACGCAGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGTCCAGCCAACATGGTGAACCCCTGTCTCTACTAAAAATACAGAAATTAGCCTGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTAGGTGAATGAGGTGGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCAGTGAGGCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCGCAAAAAAAAAAAAAAAAAAAGAAAAGAAATAAGTACAATGTGCACCTATTGGTTCTGTGGCCCACTGTGCTGCTCAGATCACGTTTGGGAAGTTTACTGATGGGCTGAATTTTAAGAGACTACAGAGTCAGTTACTCAGTGTACAGAATTAGTTACATTGACAAACTTGAGGACTTACTGGAAGAGGCCAAACTGGAAAGCAAGGAATCTCATGTCTTACAAAAAATGAGGAAAGGATAGTGGTCTGCAAAAGGGAAATAAGTGACAATGTATTCCCTTGGAAAAAAGTGTTGAGTTCCTTCTTTATGCTGGAAATATGGCAGTGAGTGAGTCAGAAATGATCCCTACTGTCTTGAAACTTATAGTTTGCTAGCAAAGACAAACTCTGAACAAGTCATTACAACTTTGGGAACTGATAACAGGCAGCTCTAATCTAGCCTTGAAATACTTGAAAGAATGTCACTTTGAAGAAGAAACAAACTTGTTCCAGAAAAAATACCTGGGACCTTAGTAGAAGTTGTAGGGAAGGTGACATTGGTTTAGCATAAAAAGCCAAACAGGCTATCGGACAACTAGTTATCCCCCATGAGGTACTGAATTCCTCACCACTAGAGATATCAGGCAGTGGCTGTCAAGAGTGTTCCAAAGGGGATTCTTCATCAGTGATTATTATTAAAGTACACCTGGCTCTTTGCTATGCATATGTTATCTCATTTAATCTAAACAGTACCCTGAAAATTAGGTATTCCTATTATCCAGTTTTACATTTGAGGAATCTCAGGCCAGGTGAAATTACCCCTGCTCAAATAAATGGTAAATGGTTGGAGCCAAAATTCAAAGCCAGGCAGTCTGGCTCCAGAGCTCATGCTCTCAACCACTGTGCCCTGCTGCTGGTACTTAAAAATAACAATGGCAGCTACCATTTGTTCATTGGTGACCTTTATCAGACAGTATGTCTTCCAGATGCCCTCTAAGGGCCAAGAGCCAATAACATAATCCAGATGTTATTTCATAGTCCTAAAATTGGCTCTTAGAAAAATCCTGGTGGAAATGTTGATCTAGTCTCGTTTTAGTTCTGCTTTACCACAGGCAGGTGATCTGGCTGCCTCAAGTGACGCCTCCCCCTACTAGTGAATGAATCAGGGCCAGCAGCAGCTGCAGCTACAGCTCAGGATGCCTGTAACATTGTCATCTCTGGGCTTCTGGGTCCTGCTTAGCCTGCTTTTTCCCTGGAGGACTGACCAGGGATGCGGCCCAGCAACATGTTACTAAATCATACTCTCCTCCCTACCTTTCCCAGACCTCTCCTGCCTGGTGTTCCAACCCGTTCTGTGGCCAGAGTATACATTTTGGAACCTCTTCGAGGCCATCCTGCAGTTCCAGATGAACCATAGCGTGCTTCAGGTAAGAAAGAGTTCAGGGCTGGCCAGATGGGATGGGATGGAAGAAAAGATTAGCATTGATTGACAACCACCTTACTATATACCAGGCACTTCCTAATAAGATGATGATAATGATGATAGTAGCTACCACCTACTGAGTATCTACTACTTGTCAGGCACTGCGAACATTTTACATGCTGCAACTCATTTAATGTTCCCAAGAACCCAATGAGGGAAGTCTTATTAGCCCCTCCCTTATGTAAGTAAGCAAACAGAAATGATTTAGTTAAGGACACATAATCAGTAAGAGGTAGGAATAGGATTTGAGCTACAGGTCTTTTATCTTTTAAAGACTCAGGAGGAAAAGGCTTCTCAGAGAAACTGGCCATTATTCCTTTAAAGTATTACCCTAATAAAAGATCGTAGCAGTAGGGATTAAGAACTAAATAGCATTGTCTTTCCATTGTGTAAACCTATGTTGTGTCAAGACTTGAAGTTTGACTTTCAGTTTTCATCACCAAATCTTGAAACAGGTTTTATTAGCAGTCACCTGTATATGATTAGGTCTCTTTATAATAATGGTAGTGGTAGCTAACATATGAGGATCTACGAGGGCACTTAGGTGATTTCATGTAAGTTTTCTTATTTAACCTAACAACCCAGCAGTTTTGGTGTCCTCATTTTTCATATATGGAACCAGAGGGGCAGAGAGACTTAAGTAACTGTCCCAAGGAACCTGAATTTTATCTTTATTTATTTATTTATTTTGAGATGGGGTTTTGCTCTTGTTGCCCAGGCCGGAGTGCAGTGGTGCGATCTGGGCTCACTGCAACCTCCCCCTCCTGGGTTTGAACGATTCTCCTGTCTCAGCCTCCCAACTAGCTGGGATTACAGGCACACGCCACCATGCCTGGCTAATTTTTGTATTTTCAGTAGAGACAGTGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGAGCCTGAATTTTAAAATCAAAGCTGGTGCTGCTTCTTCAGTCTGGAGAGATAATGCCAGGAGGAAATAATGATGTGAGTCAGGGATTCTTAATCTCCTTGGTATTGGGGTCCCTTTGAATAATCTAATGAAAGCCACAGACCATCTCCCTAGAAAAATCGCAGATCACTCAAATGTGGAATTTTGCATAGAATTGTAAACTTATCATGGAAACACATAGAATACTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGCGGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACCGAAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCACCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCAATCCCAACTAATTTTGTATTTTTAATAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCTTTACCTCAGGTGATCCGCCCGCCTTGGCTTCCCAAAGTGATGGGATTACAGGCATGAGCCACCAAGCCCGGCCACACATAGAATACTTTAAGGGGGTTCACATAACTGCTGAAATCTGCCCCTGAATCCCAAGTCCATAACTCCTGCTATAAGTAAATCAAATCACAAAGACTTGATCATGTATTTAATTACTTAGTCTCAGAATATGAGGAAATTAAAAGAAGTTTAGAATTAGTGAAAAGAAAAACAGCAAAGGCACAATTATCCACTGTCAGTGGGGAATGAATATCAGATTTTTCCATATGACCAAAGCTCCCTCTAAAAACTAAAACTTTACCCTTTTTTGATGGAAAAATTTCTAAAATGTATCTTGTACATAATTCATTGAAATCTATATACCAGGCACTTGCTAATAATGATGATGATTAGGATAATCACGTGCTATTTTTTGTTTTTTTTTTTTTTTAGCAGGGTCTNNNN
|
pathogenic
| 5,931 |
Is the genetic change at chromosome 1, position 26696421, within gene ARID1A (AT-rich interaction domain 1A) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Coffin-Siris_syndrome_1', 'Intellectual_disability,_autosomal_dominant_14']
|
GGCAGCCTTGGGTCTGGTGAGGAGCTGGAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTA
|
GGCAGCCTTGGGTCTGGTGAGGAGCTGGAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTANNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 5,939 |
Determine whether the variant at chromosome 1, position 26696448, in gene ARID1A (AT-rich interaction domain 1A) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
GAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCA
|
GAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCA
|
benign
| 5,940 |
Determine if the mutation at chromosome 1, position 26696448 in gene ARID1A (AT-rich interaction domain 1A) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
GAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCA
|
GAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCANNN
|
benign
| 5,941 |
For chromosome 1, position 26696516, gene ARID1A (AT-rich interaction domain 1A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
GCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGCTTG
|
GCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGC
|
benign
| 5,943 |
Regarding the variant found on chromosome 1 at position 26696516 in gene ARID1A (AT-rich interaction domain 1A): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
GCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGCTTG
|
GCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTT
|
benign
| 5,944 |
Is the genetic change at chromosome 1, position 26696649, within gene ARID1A (AT-rich interaction domain 1A) benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
TTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGCTTGTACCTTGGATTTATTTTGCTTGTTATGTTTTATGCAGCCTGAAATGAATTCTGTGTTGTCAGAACAGTAGCTGAGTTTTTTCTCTACAATGGGTTTGCTGTTTGTTTTGGTTTTGTGACTTTCCTGATGGTAT
|
TTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGCTTGTACCTTGGATTTATTTTGCTTGTTATGTTTTATGCAGCCTGAAATGAATTCTGTGTTGTCAGAACAGTAGCTGAGTTTTTTCTCTACAATGGGTTTGCTGTTTGTTTTGGTTTTGTGACTTTCCTGATGGTATNNNNNNNNNNNNNNNNNN
|
benign
| 5,948 |
Variant in gene ARID1A (AT-rich interaction domain 1A), located at chromosome 1 position 26696664: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
CGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGCTTGTACCTTGGATTTATTTTGCTTGTTATGTTTTATGCAGCCTGAAATGAATTCTGTGTTGTCAGAACAGTAGCTGAGTTTTTTCTCTACAATGGGTTTGCTGTTTGTTTTGGTTTTGTGACTTTCCTGATGGTATAAATGACTTCTTTGA
|
CGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAGTGGTGAGATGATCAGTTTTGACTTCAAATCCATTTTGATATTCTGATCCCATTGTTGAATGTGCTCACAACTTGATTTTTTTTTTTTTAAAGGCAAGTAGACCGAAGGCAGCTTTGGTGACTCCACTTCTTTTTAAAGTCACCCTCCTCTGCCCTCTGACTTTAAGTGACAGGCAGTTCCCTCCCCTCTCTTTCAATTCTGTAAAATGGGGATAATCCGGACCTCATGCCCCCAGAGCCTTGTAAGGACCGGCTAATGAGGGCAGGCGAGTGGGAAACGAATCGTCTGAACAATGATCAGTCATTCTTTCGGGCTTGCAAAGAGGGTAAAAAAGGTTGGGTCTTTAGCGGGGTCCGTAGAAGGCTTTGAAGACGAAAAGTGCTGTAGAGGTGCTAAGCAGCAGCCAACGGACCGGGCCCGCTGCCAGGGGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGCTTGTACCTTGGATTTATTTTGCTTGTTATGTTTTATGCAGCCTGAAATGAATTCTGTGTTGTCAGAACAGTAGCTGAGTTTTTTCTCTACAATGGGTTTGCTGTTTGTTTTGGTTTTGTGACTTTCCTGATGGTATAAATGACTTCTTTGANNNNNNNNNNNNNNN
|
benign
| 5,949 |
Does the chromosome 1 mutation at position 26697412 within gene ARID1A classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Intellectual_disability,_autosomal_dominant_14']
|
GGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGCTTGTACCTTGGATTTATTTTGCTTGTTATGTTTTATGCAGCCTGAAATGAATTCTGTGTTGTCAGAACAGTAGCTGAGTTTTTTCTCTACAATGGGTTTGCTGTTTGTTTTGGTTTTGTGACTTTCCTGATGGTATAAATGACTTCTTTGATGGCTCTGAAGATGCATTTATCTTGAGTAATTTTGACACTGGTTGCTTTGCAGAATTGAAATGATTTTACTGGGCTTTTTATTGAGTGGCAAATGTGGGATCTTTATGGGGGGCCAGAAAACAGTTTTTGTTATTTTTTTTAGAACTGGGAGCTTTCTGAGGAATTTTATATTAGGTTCAAGCGGTCTGTTTTAAGGAAGACTGGCCTCATTCTTTGTTTACATGTTGAATCTTGTTAACACTTTCTTTTGTTAATTGAACTTTGGAATAGCAGCTTAATTTAAAGGGAAGCTGGTGTCTTTCATGATCTTGAGGGACTTTCTCCTAAAGGCTTGGTTTGGTGAAATTGTTTTTTTCCTGGAATAACAAAAAGTCTAGTTTTCTGTTTTGTCATCAGTCATTTTAGAGCTTTGAAATAGAGACTGGCCAGTTTATTCCTTTGCATTTTAATGTATGTTCCACTTTTTTTCTTGTCTTCCAAGATATGAAGATACGACCTAGAATGACACTTAAGATTTGCTTAGAAATTGCAACTTCTGAGTACCTTGTTACACTATTCTATCTTGTTTTATTTTGTTGCTTTTCTTCCATCTTCATCATGCTCTGTCAGCAGTGCTTTTGGTCAGGGATATTGAGTATTCTGTGGAGTCATACATGTTTTCAAAGAGGGGGAAGCTCCATTCATCCCCTCCCAAACCCCTTGCGCTTTTGTGCTAGGAGGAAATTTTGTTCACTTACTAGCTGTATT
|
GGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGCTTGTACCTTGGATTTATTTTGCTTGTTATGTTTTATGCAGCCTGAAATGAATTCTGTGTTGTCAGAACAGTAGCTGAGTTTTTTCTCTACAATGGGTTTGCTGTTTGTTTTGGTTTTGTGACTTTCCTGATGGTATAAATGACTTCTTTGATGGCTCTGAAGATGCATTTATCTTGAGTAATTTTGACACTGGTTGCTTTGCAGAATTGAAATGATTTTACTGGGCTTTTTATTGAGTGGCAAATGTGGGATCTTTATGGGGGGCCAGAAAACAGTTTTTGTTATTTTTTTTAGAACTGGGAGCTTTCTGAGGAATTTTATATTAGGTTCAAGCGGTCTGTTTTAAGGAAGACTGGCCTCATTCTTTGTTTACATGTTGAATCTTGTTAACACTTTCTTTTGTTAATTGAACTTTGGAATAGCAGCTTAATTTAAAGGGAAGCTGGTGTCTTTCATGATCTTGAGGGACTTTCTCCTAAAGGCTTGGTTTGGTGAAATTGTTTTTTTCCTGGAATAACAAAAAGTCTAGTTTTCTGTTTTGTCATCAGTCATTTTAGAGCTTTGAAATAGAGACTGGCCAGTTTATTCCTTTGCATTTTAATGTATGTTCCACTTTTTTTCTTGTCTTCCAAGATATGAAGATACGACCTAGAATGACACTTAAGATTTGCTTAGAAATTGCAACTTCTGAGTACCTTGTTACACTATTCTATCTTGTTTTATTTTGTTGCTTTTCTTCCATCTTCATCATGCTCTGTCAGCAGTGCTTTTGGTCAGGGATATTGAGTATTCTGTGGAGTCATACATGTTTTCAAAGAGGGGGAAGCTCCATTCATCCCCTCCCAAACCCCTTGCGCTTTTGTGCTAGGAGGAAATTTTGTTCACTTACTAGCTGTATTN
|
pathogenic
| 5,978 |
A mutation at chromosome position 26697417 on chromosome 1 in gene ARID1A: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
AGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCAGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGCTTGTACCTTGGATTTATTTTGCTTGTTATGTTTTATGCAGCCTGAAATGAATTCTGTGTTGTCAGAACAGTAGCTGAGTTTTTTCTCTACAATGGGTTTGCTGTTTGTTTTGGTTTTGTGACTTTCCTGATGGTATAAATGACTTCTTTGATGGCTCTGAAGATGCATTTATCTTGAGTAATTTTGACACTGGTTGCTTTGCAGAATTGAAATGATTTTACTGGGCTTTTTATTGAGTGGCAAATGTGGGATCTTTATGGGGGGCCAGAAAACAGTTTTTGTTATTTTTTTTAGAACTGGGAGCTTTCTGAGGAATTTTATATTAGGTTCAAGCGGTCTGTTTTAAGGAAGACTGGCCTCATTCTTTGTTTACATGTTGAATCTTGTTAACACTTTCTTTTGTTAATTGAACTTTGGAATAGCAGCTTAATTTAAAGGGAAGCTGGTGTCTTTCATGATCTTGAGGGACTTTCTCCTAAAGGCTTGGTTTGGTGAAATTGTTTTTTTCCTGGAATAACAAAAAGTCTAGTTTTCTGTTTTGTCATCAGTCATTTTAGAGCTTTGAAATAGAGACTGGCCAGTTTATTCCTTTGCATTTTAATGTATGTTCCACTTTTTTTCTTGTCTTCCAAGATATGAAGATACGACCTAGAATGACACTTAAGATTTGCTTAGAAATTGCAACTTCTGAGTACCTTGTTACACTATTCTATCTTGTTTTATTTTGTTGCTTTTCTTCCATCTTCATCATGCTCTGTCAGCAGTGCTTTTGGTCAGGGATATTGAGTATTCTGTGGAGTCATACATGTTTTCAAAGAGGGGGAAGCTCCATTCATCCCCTCCCAAACCCCTTGCGCTTTTGTGCTAGGAGGAAATTTTGTTCACTTACTAGCTGTATTCCCAG
|
AGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTTTGCCAGGCGGCCGCGACGGCGCTGGGTAAAATGGCAGTGCTGAGCCTCGTGTCGGAGTGAGGGGGACTCGGAGGAGAGTGGGGCGCTCTAGCCGCTCAGTCCGGCCGACCGCTTGCTCGCCCGCCCGCTGCCGCGCAGCAGCCTCGACCCAAGCCGCAGCTGGCGAGGGGAGGCAGGGCGCCGGGCTCGGCCCGCGCTCTGACTCTGGCTCCCGGCGCCCCGGCTGCTGCCGCGCGCCCTCCAGCCCGCCCGTCCCGGGTCCCCCTCCCCCCGCTCCCTCCCTCCCTCCCCGCCCCCTCCCCCTCGCCTCCCTCCCTCCCTCCCTCCTCCTTTCTCCGGCAGCAGAAAGCGGAGAGTCACAGCGGGGCCAGGCCCTGGGGAGCGGAGCCTCCACCGCCCCCCTCATTCCCAGGCAAGGGCTTGGGGGGAATGAGCCGGGAGAGCCGGGTCCCGAGCCTACAGAGCCGGGAGCAGCTGAGCCGCCGGCGCCTCGGCCGCCGCCGCCGCCTCCTCCTCCTCCGCCGCCGCCAGCCCGGAGCCTGAGCCGGCGGGGCGGGGGGGAGAGGAGCGAGCGCAGCGCAGCAGCGGAGCCCCGCGAGGCCCGCCCGGGCGGGTGGGGAGGGCAGCCCGGGGGACTGGGCCCCGGGGCGGGGTGGGAGGGGGGGAGAAGACGAAGACAGGGCCGGGTCTCTCCGCGGACGAGACAGCGGGGATCATGGCCGCGCAGGTCGCCCCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCGCCGCCGCCGCCCTCGGAGCTGAAGAAAGCCGAGCAGCAGCAGCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAAGGCAGCCGCCGGGCAGGAAAGCGAGGGCCCCGCCGTGGGGCCGCCGCAGCCGCTGGGAAAGGAGCTGCAGGACGGGGCCGAGAGCAATGGGGGTGGCGGCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCCCTAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGGGGTGGGGGCGCCTCCTCACTCAGCCGCGGCCGCCTTGCCGCCCCCAGCCTACGGCTTCGGGCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGCCGCCGCGGCCGCCGTCTTCCACCAACAACATGGCGGACAACAAAGCCCTGGCCTGGCAGCGCTGCAGAGCGGCGGCGGCGGGGGCCTGGAGCCCTACGCGGGGCCCCAGCAGAACTCTCACGACCACGGCTTCCCCAACCACCAGTACAACTCCTACTACCCCAACCGCAGCGCCTACCCCCCGCCCGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGGGCTCCGGCGCGGCGGCGGCTGCCGGCTCCAAGCCGCCTCCCTCCTCCAGCGCCTCCGCCTCCTCGTCGTCTTCGTCCTTCGCTCAGCAGCGCTTCGGGGCCATGGGGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTCCCCAGCCCACCGCCACCCCCACCCTCAACCAACTGCTCACGTCGCCCAGCTCGGCCCGGGGCTACCAGGGCTACCCCGGGGGCGACTACAGTGGCGGGCCCCAGGACGGGGGCGCCGGCAAGGGCCCGGCGGACATGGCCTCGCAGTGTTGGGGGGCTGCGGCGGCGGCCGCCTCGGGAGGGGCCCAACAAAGGAGCCACCACGCGCCCATGAGCCCCGGGAGCAGCGGCGGCGGGGGGCAGCCGCTCGCCCGGACCCCTCAGGTACACAGCTGAGTGGGGAGGGGGCTGGGGCGAGCGTGGTCCTGGGGGTGGGTGGCGGCTGCGGTGAGCGGGCCACAGCCTTGGGCTCCCCTCAGTCCCGGGCCCCCACTGCTGGGGAGCTGCCATTGTCTGGCTCTTCTCTCTTAAAATGGCTGCCTGTCTGCCTTCCTCTCCTTCCCTCCTTCAGCCTTTGTGTTGGGTTTTTCCAGAGGTGTCTGCTCCTCTTTTTCCTCTCCCCTGGTCCCTTCGAACTCCAGGGGTCTTGATGGGGGTGCGGGGCAGAGTGTGCGGGGAAGGGCCTGGCCGGGGGTGAGGGGGTGAGGGGGCGCTGGGGGCTCAGGTTAGGAGTGTAGGCAGTGGTAGGAGCCCAGGAGTTGAATGAACGTTTCTTTGCTCACCTGCCGCTCCTCTCCGTCCCCCGGCCTTCCTCTGGGCCGCCCCCCATCTGTGCTTTCAAAGAGGGCCCCTAGAGCTCGAGGGGACCTCGAGGGGAGGGCAGGGGACTGCTTGGGAGCTGCTAGAGGCCGGCTGCGGTTCACCTAGGGCAGCCCGGTCCATCTCCTGTCTTAGGCTCCGCCGGCCCAGTGGCCTGGGCTTCTCCCTGGAAGTGCTGGTAAACAGCTGAGTGATTGGAGTAGTAAGTGCAGATTGCTTTGGTTTGGGATTTGAATTATGGAGGTAAAATCCTTCTGTCAAAGCCAGGAGACAGTTGGTCTTAGGTTGACATCCTATCTGTGATCTGATTGGCTCCCCATCTCCTGCTCTTGGCCATTTATAATTGCCTCTGATGTAATGGTACAACAATCCTGATGAGCTCATAAACTTTTACACTCTGCTTTTCTGCCAGTGATAACCCAAACTATCGCTGCCACTATCTGCCTTTTATTCCAGAGCTGAAATTGGCTGTGACCTTGAGGAGGGAGGTTTAAGTAGCAATACTGTATCAGCAAGAGCAAAGCCTCAGACAGCCTGCCCTTGTTACATTGTGCCCAAACAAAAGAGGAGGCAATGGCATTTTGCTTGTACCTTGGATTTATTTTGCTTGTTATGTTTTATGCAGCCTGAAATGAATTCTGTGTTGTCAGAACAGTAGCTGAGTTTTTTCTCTACAATGGGTTTGCTGTTTGTTTTGGTTTTGTGACTTTCCTGATGGTATAAATGACTTCTTTGATGGCTCTGAAGATGCATTTATCTTGAGTAATTTTGACACTGGTTGCTTTGCAGAATTGAAATGATTTTACTGGGCTTTTTATTGAGTGGCAAATGTGGGATCTTTATGGGGGGCCAGAAAACAGTTTTTGTTATTTTTTTTAGAACTGGGAGCTTTCTGAGGAATTTTATATTAGGTTCAAGCGGTCTGTTTTAAGGAAGACTGGCCTCATTCTTTGTTTACATGTTGAATCTTGTTAACACTTTCTTTTGTTAATTGAACTTTGGAATAGCAGCTTAATTTAAAGGGAAGCTGGTGTCTTTCATGATCTTGAGGGACTTTCTCCTAAAGGCTTGGTTTGGTGAAATTGTTTTTTTCCTGGAATAACAAAAAGTCTAGTTTTCTGTTTTGTCATCAGTCATTTTAGAGCTTTGAAATAGAGACTGGCCAGTTTATTCCTTTGCATTTTAATGTATGTTCCACTTTTTTTCTTGTCTTCCAAGATATGAAGATACGACCTAGAATGACACTTAAGATTTGCTTAGAAATTGCAACTTCTGAGTACCTTGTTACACTATTCTATCTTGTTTTATTTTGTTGCTTTTCTTCCATCTTCATCATGCTCTGTCAGCAGTGCTTTTGGTCAGGGATATTGAGTATTCTGTGGAGTCATACATGTTTTCAAAGAGGGGGAAGCTCCATTCATCCCCTCCCAAACCCCTTGCGCTTTTGTGCTAGGAGGAAATTTTGTTCACTTACTAGCTGTATTCCCAGNNNNNNNNNNNNNNN
|
benign
| 5,979 |
Gene ARID1A (AT-rich interaction domain 1A) variant at chromosome position 26773690 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
TCTGGGAGCTTTGGCCTATTGATGTCAGCACCTTAGAATGCAGCTCAGACTAGAGCCCTGAATTCCCCAGGGAGCTGAGATGGTAATGAATGGGAAGGAGGGAGTGGGGAAGGGTTATGAATGGAACTCCCTGATGGGAGTGGCTCTGCTCACCCTCCTTTCTGAGAGGAGGCTGAGGCCTAGGGTGAGCCTAGAGAGGGAAGAAGGCCAGGGTGCCTGGAAGGTGGGTGTAAACACATGTGCCCTGGTGTTGACCTCTGAGGGTGTAATGAGTGCCTGAGATGACTCATCAGCTGGGGAGGCCTCAGCAGTGGGATATCTACTGCTGGGAATGGTAACTATTGGAAACATTAATTACTAGTAGTTTTGTACTCATCAGCTTAGAAGAACATTTGAAGTTGAGGAGTGACACCATGCTGGATGCTTTAGAACAGGAGCTCCTAGACTCCTAAAATGCATCCCAGATTTGGGACCCCCTTCCCACCCAGGACTTGGGAGGCTCTGACTGGAGCTCATGCACCAGCATTACAGGGTTTAGTAGGTTAGACAAGGTCCTTTGGCGGAGTGAAGAGAAATAGCCAGGGAAGCTGGCAATGACTCAGGGAATCACCAGCATGGTGATGTCATGGCCACATCACTCCTCTTTTCTACACGTAAAACAAAAACAAAGAGCTACAAAACCCTCAGATTCCCGTCTTTATGACCTGGCCTTGTAGATCCTCTGCTAAGAAGGGTGATCAGGCTTTAAAGGCCTTAGGAAGAACTTTCCCAAAGAGATTCTGGGTCGTTCGTGTGTTTGTGTGAGAGTTAAACACTGTCATGCCAAGCAAACTACTCAACTTGTATCTCTGTCCACAGCGGGATCAGGATCTATGCAGGGGCCCCAGACTCCCCAGTCAACCAGCAGTTCCATGGCAGAAGGAGGAGACTTAAAGCCACCAACTCCAGCATCCACACCACACAGTCAGATCCCCCCATTGCCAGGCATGAGGTAAGGCCAAGAGCAGGGGCAGATGGTTGGGAGGATGGCTGAAGATAAGTGCATGGGAACTCCTTGCAGCCCAAGGTGGTCCTTGCCTCTGCCTTCCCAGCCAGTGACTCCTGCGTGTCCTTTGTTATATTGGAGGAATTGGTTTATTTGTGGTTTACTTGGTTTTCCTCACTCTGGAGCAGGAGCAATTCAGTTGGGATCCAGGATGCCTTTAATGATGGAAGTGACTCCACATTCCAGAAGCGGAATTCCATGACTCCAAACCCTGGGTATCAGCCCAGTATGAATACCTCTGACATGATGGGGCGCATGTCCTATGAGCCAAATAAGGATCCTTATGGCAGCATGAGGAAAGGTGACTGATCTGATTGCTATTTGAACTTGTGCTCGTAAAGACAGGGCCAGTGAAATGGGGGGAAATCTTGAGAATGGCTCAGGGTTCTTGTGGAGCCATCCTCTGAGATAATGCATTTCCTGCCCTAACTACCCCTCTTCATCCTTACCTCCTTTCTTGTCTTCTCCTTGGCTTCACCTTGTCATCCCTTAATAAGTACATGCTTTTCGCTGGTTGGGGCCTCTTTAGATCTCTGTTTTGAACTTGTCTGGAAAACAATGAGATCAAACCTGAACTCTGAAGAGGGCCTGGGTCAAAGGGTAGATTACCAGGCTTGTCAACTTACCAGTTTGTTCACCGCTTGCCTTTCTACGCTCAGCTCCAGGGAGTGATCCCTTCATGTCCTCAGGGCAGGGCCCCAACGGCGGGATGGGTGACCCCTACAGTCGTGCTGCCGGCCCTGGGCTAGGAAATGTGGCGATGGGACCACGACAGCACTATCCCTATGGAGGTCCTTATGACAGAGTGAGGTAAGCATGACCCCAGCTCCTGTCCACTCCCCCAGCACCCTGAAGCTATAGTGGGCTCAATCTGCCTCTCCAATTTTGTTTAGGACGGAGCCTGGAATAGGGCCTGAGGGAAACATGAGCACTGGGGCCCCACAGCCGAATCTCATGCCTTCCAACCCAGACTCGGGGATGTATTCTCCTAGCCGCTACCCCCCGCAGCAGCAGCAGCAGCAGCAGCAACGGTGAGTAAAGCCTGGTCTCGGTGCTGCTATGGATCAGGCTTCGCCACTGCCCACCCTAATCCTGTGTTTCTTTGCCTCCTATAGACATGATTCCTATGGCAATCAGTTCTCCACCCAAGGCACCCCTTCTGGCAGCCCCTTCCCCAGCCAGCAGACTACAATGTATCAACAGCAACAGCAGGTGAGGAGGGTAGCTGGGAATGGACTGGCATGCAGGTTCGCCTTGAAAACTAGTTAGTAAACTAATCTAACGTGTTGAAGTCTAAGAAGCTCACTTTAGATATTTTGGCATTCTTCTCTCACCTGACTGGCCAGTCCTGCCTGAAGAGCCACGTCCTCAATCTCTTCTCTATTTGGAGTTGGAAGGGGCTAGAAATAGACCTTATTTTGATTTTTAGGTTTTGTATATTTTTCTACTTAAGCAAGGGAAGGGAAGAAAGAGTGGTGGTTGCTTTTGGAAACAACTTCAAAAGACAATTTGTTAAGGTGATTCCCATGTTTTCTTGGAGTCTGTGTCCACCAAGCATCTGGTTGTAGCCATCTTGGCATCTGTGGGCTTTATGTCCCTGAGTGCAGAGTATTAACTTCCCCTCTGCTTGTCTCTGCCTTAGAATTACAAGCGGCCAATGGATGGCACATATGGCCCTCCTGCCAAGCGGCACGAAGGGGAGATGTACAGCGTGCCATACAGCACTGGGCAGGGGCAGCCTCAGCAGCAGCAGTTGCCCCCAGCCCAGCCCCAGCCTGCCAGCCAGCAACAAGCTGCCCAGCCTTCCCCTCAGCAAGATGTATACAACCAGTATGGCAATGCCTATCCTGCCACTGCCACAGCTGCTACTGAGCGCCGACCAGCAGGCGGCCCCCAGAACCAATTTCCATTCCAGTTTGGCCGAGACCGTGTCTCTGCACCCCCTGGCACCAATGCCCAGCAAAACATGCCACCACAAATGATGGGCGGCCCCATACAGGCATCAGCTGAGGTTGCTCAGCAAGGCACCATGTGGCAGGGGCGTAATGACATGACCTATAATTATGCCAACAGGCAGAGCACGGGCTCTGCCCCCCAGGGCCCCGCCTATCATGGCGTGAACCGAACAGATGAAATGCTGCACACAGATCAGAGGGCCAACCACGAAGGCTCGTGGCCTTCCCATGGCACACGCCAGCCCCCATATGGTCCCTCTGCCCCTGTGCCCCCCATGACAAGGCCCCCTCCATCTAACTACCAGCCCCCACCAAGCATGCAGAATCACATTCCTCAGGTATCCAGCCCTGCTCCCCTGCCCCGGCCAATGGAGAACCGCACCTCTCCTAGCAAGTCTCCATTCCTGCACTCTGGGATGAAAATGCAGAAGGCAGGTCCCCCAGTACCTGCCTCGCACATAGCACCTGCCCCTGTGCAGCCCCCCATGATTCGGCGGGATATCACCTTCCCACCTGGCTCTGTTGAAGCCACACAGCCTGTGTTGAAGCAGAGGAGGCGGCTCACAATGAAAGACATTGGTAAGGAGATCTTCCTCATTCGGTTGCCTAATCTGCCCCTTTCCATCTTGTCCATTGTTCCCTCCACCTTACTATTCTGGATGAGGTTGAATCTGGTCCAGTGTTGACTAAAATAGAACCAAAGAACTTTGGAAAAGGAAGAAATAAGCTAACTAAAGGTTCTCCTTCATTGCCATGCAATGAAGTCCTAGACAGACAGCTTAGAAGCCATGAGGGGCTGGTGTGTTTCATCTCCCAGACAGAAACTGCCTTCCACCTTGTGTTATCTTCAGAGTAGCTTCACTGATGGGGCAGCCCTAGGGGTGCCTCCAGCCAACCTGGGCTTGGTGGATAGACGACATGGAGGTTTATTTCAGGAACCCCGGAGGCATGGCGGGTAATGATGTCCCTCAAGTCTGGTCTCCTGGCAGAGAGCACATGGGCATTAGATACCATCAACATCCTGCTGTATGATGACAACAGCATCATGACCTTCAACCTCAGTCAGGTGAGTATCAGTGCCTGGGGAAGATTGAGA
|
TCTGGGAGCTTTGGCCTATTGATGTCAGCACCTTAGAATGCAGCTCAGACTAGAGCCCTGAATTCCCCAGGGAGCTGAGATGGTAATGAATGGGAAGGAGGGAGTGGGGAAGGGTTATGAATGGAACTCCCTGATGGGAGTGGCTCTGCTCACCCTCCTTTCTGAGAGGAGGCTGAGGCCTAGGGTGAGCCTAGAGAGGGAAGAAGGCCAGGGTGCCTGGAAGGTGGGTGTAAACACATGTGCCCTGGTGTTGACCTCTGAGGGTGTAATGAGTGCCTGAGATGACTCATCAGCTGGGGAGGCCTCAGCAGTGGGATATCTACTGCTGGGAATGGTAACTATTGGAAACATTAATTACTAGTAGTTTTGTACTCATCAGCTTAGAAGAACATTTGAAGTTGAGGAGTGACACCATGCTGGATGCTTTAGAACAGGAGCTCCTAGACTCCTAAAATGCATCCCAGATTTGGGACCCCCTTCCCACCCAGGACTTGGGAGGCTCTGACTGGAGCTCATGCACCAGCATTACAGGGTTTAGTAGGTTAGACAAGGTCCTTTGGCGGAGTGAAGAGAAATAGCCAGGGAAGCTGGCAATGACTCAGGGAATCACCAGCATGGTGATGTCATGGCCACATCACTCCTCTTTTCTACACGTAAAACAAAAACAAAGAGCTACAAAACCCTCAGATTCCCGTCTTTATGACCTGGCCTTGTAGATCCTCTGCTAAGAAGGGTGATCAGGCTTTAAAGGCCTTAGGAAGAACTTTCCCAAAGAGATTCTGGGTCGTTCGTGTGTTTGTGTGAGAGTTAAACACTGTCATGCCAAGCAAACTACTCAACTTGTATCTCTGTCCACAGCGGGATCAGGATCTATGCAGGGGCCCCAGACTCCCCAGTCAACCAGCAGTTCCATGGCAGAAGGAGGAGACTTAAAGCCACCAACTCCAGCATCCACACCACACAGTCAGATCCCCCCATTGCCAGGCATGAGGTAAGGCCAAGAGCAGGGGCAGATGGTTGGGAGGATGGCTGAAGATAAGTGCATGGGAACTCCTTGCAGCCCAAGGTGGTCCTTGCCTCTGCCTTCCCAGCCAGTGACTCCTGCGTGTCCTTTGTTATATTGGAGGAATTGGTTTATTTGTGGTTTACTTGGTTTTCCTCACTCTGGAGCAGGAGCAATTCAGTTGGGATCCAGGATGCCTTTAATGATGGAAGTGACTCCACATTCCAGAAGCGGAATTCCATGACTCCAAACCCTGGGTATCAGCCCAGTATGAATACCTCTGACATGATGGGGCGCATGTCCTATGAGCCAAATAAGGATCCTTATGGCAGCATGAGGAAAGGTGACTGATCTGATTGCTATTTGAACTTGTGCTCGTAAAGACAGGGCCAGTGAAATGGGGGGAAATCTTGAGAATGGCTCAGGGTTCTTGTGGAGCCATCCTCTGAGATAATGCATTTCCTGCCCTAACTACCCCTCTTCATCCTTACCTCCTTTCTTGTCTTCTCCTTGGCTTCACCTTGTCATCCCTTAATAAGTACATGCTTTTCGCTGGTTGGGGCCTCTTTAGATCTCTGTTTTGAACTTGTCTGGAAAACAATGAGATCAAACCTGAACTCTGAAGAGGGCCTGGGTCAAAGGGTAGATTACCAGGCTTGTCAACTTACCAGTTTGTTCACCGCTTGCCTTTCTACGCTCAGCTCCAGGGAGTGATCCCTTCATGTCCTCAGGGCAGGGCCCCAACGGCGGGATGGGTGACCCCTACAGTCGTGCTGCCGGCCCTGGGCTAGGAAATGTGGCGATGGGACCACGACAGCACTATCCCTATGGAGGTCCTTATGACAGAGTGAGGTAAGCATGACCCCAGCTCCTGTCCACTCCCCCAGCACCCTGAAGCTATAGTGGGCTCAATCTGCCTCTCCAATTTTGTTTAGGACGGAGCCTGGAATAGGGCCTGAGGGAAACATGAGCACTGGGGCCCCACAGCCGAATCTCATGCCTTCCAACCCAGACTCGGGGATGTATTCTCCTAGCCGCTACCCCCCGCAGCAGCAGCAGCAGCAGCAGCAGCAACGGTGAGTAAAGCCTGGTCTCGGTGCTGCTATGGATCAGGCTTCGCCACTGCCCACCCTAATCCTGTGTTTCTTTGCCTCCTATAGACATGATTCCTATGGCAATCAGTTCTCCACCCAAGGCACCCCTTCTGGCAGCCCCTTCCCCAGCCAGCAGACTACAATGTATCAACAGCAACAGCAGGTGAGGAGGGTAGCTGGGAATGGACTGGCATGCAGGTTCGCCTTGAAAACTAGTTAGTAAACTAATCTAACGTGTTGAAGTCTAAGAAGCTCACTTTAGATATTTTGGCATTCTTCTCTCACCTGACTGGCCAGTCCTGCCTGAAGAGCCACGTCCTCAATCTCTTCTCTATTTGGAGTTGGAAGGGGCTAGAAATAGACCTTATTTTGATTTTTAGGTTTTGTATATTTTTCTACTTAAGCAAGGGAAGGGAAGAAAGAGTGGTGGTTGCTTTTGGAAACAACTTCAAAAGACAATTTGTTAAGGTGATTCCCATGTTTTCTTGGAGTCTGTGTCCACCAAGCATCTGGTTGTAGCCATCTTGGCATCTGTGGGCTTTATGTCCCTGAGTGCAGAGTATTAACTTCCCCTCTGCTTGTCTCTGCCTTAGAATTACAAGCGGCCAATGGATGGCACATATGGCCCTCCTGCCAAGCGGCACGAAGGGGAGATGTACAGCGTGCCATACAGCACTGGGCAGGGGCAGCCTCAGCAGCAGCAGTTGCCCCCAGCCCAGCCCCAGCCTGCCAGCCAGCAACAAGCTGCCCAGCCTTCCCCTCAGCAAGATGTATACAACCAGTATGGCAATGCCTATCCTGCCACTGCCACAGCTGCTACTGAGCGCCGACCAGCAGGCGGCCCCCAGAACCAATTTCCATTCCAGTTTGGCCGAGACCGTGTCTCTGCACCCCCTGGCACCAATGCCCAGCAAAACATGCCACCACAAATGATGGGCGGCCCCATACAGGCATCAGCTGAGGTTGCTCAGCAAGGCACCATGTGGCAGGGGCGTAATGACATGACCTATAATTATGCCAACAGGCAGAGCACGGGCTCTGCCCCCCAGGGCCCCGCCTATCATGGCGTGAACCGAACAGATGAAATGCTGCACACAGATCAGAGGGCCAACCACGAAGGCTCGTGGCCTTCCCATGGCACACGCCAGCCCCCATATGGTCCCTCTGCCCCTGTGCCCCCCATGACAAGGCCCCCTCCATCTAACTACCAGCCCCCACCAAGCATGCAGAATCACATTCCTCAGGTATCCAGCCCTGCTCCCCTGCCCCGGCCAATGGAGAACCGCACCTCTCCTAGCAAGTCTCCATTCCTGCACTCTGGGATGAAAATGCAGAAGGCAGGTCCCCCAGTACCTGCCTCGCACATAGCACCTGCCCCTGTGCAGCCCCCCATGATTCGGCGGGATATCACCTTCCCACCTGGCTCTGTTGAAGCCACACAGCCTGTGTTGAAGCAGAGGAGGCGGCTCACAATGAAAGACATTGGTAAGGAGATCTTCCTCATTCGGTTGCCTAATCTGCCCCTTTCCATCTTGTCCATTGTTCCCTCCACCTTACTATTCTGGATGAGGTTGAATCTGGTCCAGTGTTGACTAAAATAGAACCAAAGAACTTTGGAAAAGGAAGAAATAAGCTAACTAAAGGTTCTCCTTCATTGCCATGCAATGAAGTCCTAGACAGACAGCTTAGAAGCCATGAGGGGCTGGTGTGTTTCATCTCCCAGACAGAAACTGCCTTCCACCTTGTGTTATCTTCAGAGTAGCTTCACTGATGGGGCAGCCCTAGGGGTGCCTCCAGCCAACCTGGGCTTGGTGGATAGACGACATGGAGGTTTATTTCAGGAACCCCGGAGGCATGGCGGGTAATGATGTCCCTCAAGTCTGGTCTCCTGGCAGAGAGCACATGGGCATTAGATACCATCAACATCCTGCTGTATGATGACAACAGCATCATGACCTTCAACCTCAGTCAGGTGAGTATCAGTGCCTGGGGAAGATTG
|
benign
| 6,035 |
Considering the variant on chromosome 1, location 26773690, involving gene ARID1A (AT-rich interaction domain 1A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
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benign
|
TCTGGGAGCTTTGGCCTATTGATGTCAGCACCTTAGAATGCAGCTCAGACTAGAGCCCTGAATTCCCCAGGGAGCTGAGATGGTAATGAATGGGAAGGAGGGAGTGGGGAAGGGTTATGAATGGAACTCCCTGATGGGAGTGGCTCTGCTCACCCTCCTTTCTGAGAGGAGGCTGAGGCCTAGGGTGAGCCTAGAGAGGGAAGAAGGCCAGGGTGCCTGGAAGGTGGGTGTAAACACATGTGCCCTGGTGTTGACCTCTGAGGGTGTAATGAGTGCCTGAGATGACTCATCAGCTGGGGAGGCCTCAGCAGTGGGATATCTACTGCTGGGAATGGTAACTATTGGAAACATTAATTACTAGTAGTTTTGTACTCATCAGCTTAGAAGAACATTTGAAGTTGAGGAGTGACACCATGCTGGATGCTTTAGAACAGGAGCTCCTAGACTCCTAAAATGCATCCCAGATTTGGGACCCCCTTCCCACCCAGGACTTGGGAGGCTCTGACTGGAGCTCATGCACCAGCATTACAGGGTTTAGTAGGTTAGACAAGGTCCTTTGGCGGAGTGAAGAGAAATAGCCAGGGAAGCTGGCAATGACTCAGGGAATCACCAGCATGGTGATGTCATGGCCACATCACTCCTCTTTTCTACACGTAAAACAAAAACAAAGAGCTACAAAACCCTCAGATTCCCGTCTTTATGACCTGGCCTTGTAGATCCTCTGCTAAGAAGGGTGATCAGGCTTTAAAGGCCTTAGGAAGAACTTTCCCAAAGAGATTCTGGGTCGTTCGTGTGTTTGTGTGAGAGTTAAACACTGTCATGCCAAGCAAACTACTCAACTTGTATCTCTGTCCACAGCGGGATCAGGATCTATGCAGGGGCCCCAGACTCCCCAGTCAACCAGCAGTTCCATGGCAGAAGGAGGAGACTTAAAGCCACCAACTCCAGCATCCACACCACACAGTCAGATCCCCCCATTGCCAGGCATGAGGTAAGGCCAAGAGCAGGGGCAGATGGTTGGGAGGATGGCTGAAGATAAGTGCATGGGAACTCCTTGCAGCCCAAGGTGGTCCTTGCCTCTGCCTTCCCAGCCAGTGACTCCTGCGTGTCCTTTGTTATATTGGAGGAATTGGTTTATTTGTGGTTTACTTGGTTTTCCTCACTCTGGAGCAGGAGCAATTCAGTTGGGATCCAGGATGCCTTTAATGATGGAAGTGACTCCACATTCCAGAAGCGGAATTCCATGACTCCAAACCCTGGGTATCAGCCCAGTATGAATACCTCTGACATGATGGGGCGCATGTCCTATGAGCCAAATAAGGATCCTTATGGCAGCATGAGGAAAGGTGACTGATCTGATTGCTATTTGAACTTGTGCTCGTAAAGACAGGGCCAGTGAAATGGGGGGAAATCTTGAGAATGGCTCAGGGTTCTTGTGGAGCCATCCTCTGAGATAATGCATTTCCTGCCCTAACTACCCCTCTTCATCCTTACCTCCTTTCTTGTCTTCTCCTTGGCTTCACCTTGTCATCCCTTAATAAGTACATGCTTTTCGCTGGTTGGGGCCTCTTTAGATCTCTGTTTTGAACTTGTCTGGAAAACAATGAGATCAAACCTGAACTCTGAAGAGGGCCTGGGTCAAAGGGTAGATTACCAGGCTTGTCAACTTACCAGTTTGTTCACCGCTTGCCTTTCTACGCTCAGCTCCAGGGAGTGATCCCTTCATGTCCTCAGGGCAGGGCCCCAACGGCGGGATGGGTGACCCCTACAGTCGTGCTGCCGGCCCTGGGCTAGGAAATGTGGCGATGGGACCACGACAGCACTATCCCTATGGAGGTCCTTATGACAGAGTGAGGTAAGCATGACCCCAGCTCCTGTCCACTCCCCCAGCACCCTGAAGCTATAGTGGGCTCAATCTGCCTCTCCAATTTTGTTTAGGACGGAGCCTGGAATAGGGCCTGAGGGAAACATGAGCACTGGGGCCCCACAGCCGAATCTCATGCCTTCCAACCCAGACTCGGGGATGTATTCTCCTAGCCGCTACCCCCCGCAGCAGCAGCAGCAGCAGCAGCAACGGTGAGTAAAGCCTGGTCTCGGTGCTGCTATGGATCAGGCTTCGCCACTGCCCACCCTAATCCTGTGTTTCTTTGCCTCCTATAGACATGATTCCTATGGCAATCAGTTCTCCACCCAAGGCACCCCTTCTGGCAGCCCCTTCCCCAGCCAGCAGACTACAATGTATCAACAGCAACAGCAGGTGAGGAGGGTAGCTGGGAATGGACTGGCATGCAGGTTCGCCTTGAAAACTAGTTAGTAAACTAATCTAACGTGTTGAAGTCTAAGAAGCTCACTTTAGATATTTTGGCATTCTTCTCTCACCTGACTGGCCAGTCCTGCCTGAAGAGCCACGTCCTCAATCTCTTCTCTATTTGGAGTTGGAAGGGGCTAGAAATAGACCTTATTTTGATTTTTAGGTTTTGTATATTTTTCTACTTAAGCAAGGGAAGGGAAGAAAGAGTGGTGGTTGCTTTTGGAAACAACTTCAAAAGACAATTTGTTAAGGTGATTCCCATGTTTTCTTGGAGTCTGTGTCCACCAAGCATCTGGTTGTAGCCATCTTGGCATCTGTGGGCTTTATGTCCCTGAGTGCAGAGTATTAACTTCCCCTCTGCTTGTCTCTGCCTTAGAATTACAAGCGGCCAATGGATGGCACATATGGCCCTCCTGCCAAGCGGCACGAAGGGGAGATGTACAGCGTGCCATACAGCACTGGGCAGGGGCAGCCTCAGCAGCAGCAGTTGCCCCCAGCCCAGCCCCAGCCTGCCAGCCAGCAACAAGCTGCCCAGCCTTCCCCTCAGCAAGATGTATACAACCAGTATGGCAATGCCTATCCTGCCACTGCCACAGCTGCTACTGAGCGCCGACCAGCAGGCGGCCCCCAGAACCAATTTCCATTCCAGTTTGGCCGAGACCGTGTCTCTGCACCCCCTGGCACCAATGCCCAGCAAAACATGCCACCACAAATGATGGGCGGCCCCATACAGGCATCAGCTGAGGTTGCTCAGCAAGGCACCATGTGGCAGGGGCGTAATGACATGACCTATAATTATGCCAACAGGCAGAGCACGGGCTCTGCCCCCCAGGGCCCCGCCTATCATGGCGTGAACCGAACAGATGAAATGCTGCACACAGATCAGAGGGCCAACCACGAAGGCTCGTGGCCTTCCCATGGCACACGCCAGCCCCCATATGGTCCCTCTGCCCCTGTGCCCCCCATGACAAGGCCCCCTCCATCTAACTACCAGCCCCCACCAAGCATGCAGAATCACATTCCTCAGGTATCCAGCCCTGCTCCCCTGCCCCGGCCAATGGAGAACCGCACCTCTCCTAGCAAGTCTCCATTCCTGCACTCTGGGATGAAAATGCAGAAGGCAGGTCCCCCAGTACCTGCCTCGCACATAGCACCTGCCCCTGTGCAGCCCCCCATGATTCGGCGGGATATCACCTTCCCACCTGGCTCTGTTGAAGCCACACAGCCTGTGTTGAAGCAGAGGAGGCGGCTCACAATGAAAGACATTGGTAAGGAGATCTTCCTCATTCGGTTGCCTAATCTGCCCCTTTCCATCTTGTCCATTGTTCCCTCCACCTTACTATTCTGGATGAGGTTGAATCTGGTCCAGTGTTGACTAAAATAGAACCAAAGAACTTTGGAAAAGGAAGAAATAAGCTAACTAAAGGTTCTCCTTCATTGCCATGCAATGAAGTCCTAGACAGACAGCTTAGAAGCCATGAGGGGCTGGTGTGTTTCATCTCCCAGACAGAAACTGCCTTCCACCTTGTGTTATCTTCAGAGTAGCTTCACTGATGGGGCAGCCCTAGGGGTGCCTCCAGCCAACCTGGGCTTGGTGGATAGACGACATGGAGGTTTATTTCAGGAACCCCGGAGGCATGGCGGGTAATGATGTCCCTCAAGTCTGGTCTCCTGGCAGAGAGCACATGGGCATTAGATACCATCAACATCCTGCTGTATGATGACAACAGCATCATGACCTTCAACCTCAGTCAGGTGAGTATCAGTGCCTGGGGAAGATTGAGA
|
TCTGGGAGCTTTGGCCTATTGATGTCAGCACCTTAGAATGCAGCTCAGACTAGAGCCCTGAATTCCCCAGGGAGCTGAGATGGTAATGAATGGGAAGGAGGGAGTGGGGAAGGGTTATGAATGGAACTCCCTGATGGGAGTGGCTCTGCTCACCCTCCTTTCTGAGAGGAGGCTGAGGCCTAGGGTGAGCCTAGAGAGGGAAGAAGGCCAGGGTGCCTGGAAGGTGGGTGTAAACACATGTGCCCTGGTGTTGACCTCTGAGGGTGTAATGAGTGCCTGAGATGACTCATCAGCTGGGGAGGCCTCAGCAGTGGGATATCTACTGCTGGGAATGGTAACTATTGGAAACATTAATTACTAGTAGTTTTGTACTCATCAGCTTAGAAGAACATTTGAAGTTGAGGAGTGACACCATGCTGGATGCTTTAGAACAGGAGCTCCTAGACTCCTAAAATGCATCCCAGATTTGGGACCCCCTTCCCACCCAGGACTTGGGAGGCTCTGACTGGAGCTCATGCACCAGCATTACAGGGTTTAGTAGGTTAGACAAGGTCCTTTGGCGGAGTGAAGAGAAATAGCCAGGGAAGCTGGCAATGACTCAGGGAATCACCAGCATGGTGATGTCATGGCCACATCACTCCTCTTTTCTACACGTAAAACAAAAACAAAGAGCTACAAAACCCTCAGATTCCCGTCTTTATGACCTGGCCTTGTAGATCCTCTGCTAAGAAGGGTGATCAGGCTTTAAAGGCCTTAGGAAGAACTTTCCCAAAGAGATTCTGGGTCGTTCGTGTGTTTGTGTGAGAGTTAAACACTGTCATGCCAAGCAAACTACTCAACTTGTATCTCTGTCCACAGCGGGATCAGGATCTATGCAGGGGCCCCAGACTCCCCAGTCAACCAGCAGTTCCATGGCAGAAGGAGGAGACTTAAAGCCACCAACTCCAGCATCCACACCACACAGTCAGATCCCCCCATTGCCAGGCATGAGGTAAGGCCAAGAGCAGGGGCAGATGGTTGGGAGGATGGCTGAAGATAAGTGCATGGGAACTCCTTGCAGCCCAAGGTGGTCCTTGCCTCTGCCTTCCCAGCCAGTGACTCCTGCGTGTCCTTTGTTATATTGGAGGAATTGGTTTATTTGTGGTTTACTTGGTTTTCCTCACTCTGGAGCAGGAGCAATTCAGTTGGGATCCAGGATGCCTTTAATGATGGAAGTGACTCCACATTCCAGAAGCGGAATTCCATGACTCCAAACCCTGGGTATCAGCCCAGTATGAATACCTCTGACATGATGGGGCGCATGTCCTATGAGCCAAATAAGGATCCTTATGGCAGCATGAGGAAAGGTGACTGATCTGATTGCTATTTGAACTTGTGCTCGTAAAGACAGGGCCAGTGAAATGGGGGGAAATCTTGAGAATGGCTCAGGGTTCTTGTGGAGCCATCCTCTGAGATAATGCATTTCCTGCCCTAACTACCCCTCTTCATCCTTACCTCCTTTCTTGTCTTCTCCTTGGCTTCACCTTGTCATCCCTTAATAAGTACATGCTTTTCGCTGGTTGGGGCCTCTTTAGATCTCTGTTTTGAACTTGTCTGGAAAACAATGAGATCAAACCTGAACTCTGAAGAGGGCCTGGGTCAAAGGGTAGATTACCAGGCTTGTCAACTTACCAGTTTGTTCACCGCTTGCCTTTCTACGCTCAGCTCCAGGGAGTGATCCCTTCATGTCCTCAGGGCAGGGCCCCAACGGCGGGATGGGTGACCCCTACAGTCGTGCTGCCGGCCCTGGGCTAGGAAATGTGGCGATGGGACCACGACAGCACTATCCCTATGGAGGTCCTTATGACAGAGTGAGGTAAGCATGACCCCAGCTCCTGTCCACTCCCCCAGCACCCTGAAGCTATAGTGGGCTCAATCTGCCTCTCCAATTTTGTTTAGGACGGAGCCTGGAATAGGGCCTGAGGGAAACATGAGCACTGGGGCCCCACAGCCGAATCTCATGCCTTCCAACCCAGACTCGGGGATGTATTCTCCTAGCCGCTACCCCCCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACGGTGAGTAAAGCCTGGTCTCGGTGCTGCTATGGATCAGGCTTCGCCACTGCCCACCCTAATCCTGTGTTTCTTTGCCTCCTATAGACATGATTCCTATGGCAATCAGTTCTCCACCCAAGGCACCCCTTCTGGCAGCCCCTTCCCCAGCCAGCAGACTACAATGTATCAACAGCAACAGCAGGTGAGGAGGGTAGCTGGGAATGGACTGGCATGCAGGTTCGCCTTGAAAACTAGTTAGTAAACTAATCTAACGTGTTGAAGTCTAAGAAGCTCACTTTAGATATTTTGGCATTCTTCTCTCACCTGACTGGCCAGTCCTGCCTGAAGAGCCACGTCCTCAATCTCTTCTCTATTTGGAGTTGGAAGGGGCTAGAAATAGACCTTATTTTGATTTTTAGGTTTTGTATATTTTTCTACTTAAGCAAGGGAAGGGAAGAAAGAGTGGTGGTTGCTTTTGGAAACAACTTCAAAAGACAATTTGTTAAGGTGATTCCCATGTTTTCTTGGAGTCTGTGTCCACCAAGCATCTGGTTGTAGCCATCTTGGCATCTGTGGGCTTTATGTCCCTGAGTGCAGAGTATTAACTTCCCCTCTGCTTGTCTCTGCCTTAGAATTACAAGCGGCCAATGGATGGCACATATGGCCCTCCTGCCAAGCGGCACGAAGGGGAGATGTACAGCGTGCCATACAGCACTGGGCAGGGGCAGCCTCAGCAGCAGCAGTTGCCCCCAGCCCAGCCCCAGCCTGCCAGCCAGCAACAAGCTGCCCAGCCTTCCCCTCAGCAAGATGTATACAACCAGTATGGCAATGCCTATCCTGCCACTGCCACAGCTGCTACTGAGCGCCGACCAGCAGGCGGCCCCCAGAACCAATTTCCATTCCAGTTTGGCCGAGACCGTGTCTCTGCACCCCCTGGCACCAATGCCCAGCAAAACATGCCACCACAAATGATGGGCGGCCCCATACAGGCATCAGCTGAGGTTGCTCAGCAAGGCACCATGTGGCAGGGGCGTAATGACATGACCTATAATTATGCCAACAGGCAGAGCACGGGCTCTGCCCCCCAGGGCCCCGCCTATCATGGCGTGAACCGAACAGATGAAATGCTGCACACAGATCAGAGGGCCAACCACGAAGGCTCGTGGCCTTCCCATGGCACACGCCAGCCCCCATATGGTCCCTCTGCCCCTGTGCCCCCCATGACAAGGCCCCCTCCATCTAACTACCAGCCCCCACCAAGCATGCAGAATCACATTCCTCAGGTATCCAGCCCTGCTCCCCTGCCCCGGCCAATGGAGAACCGCACCTCTCCTAGCAAGTCTCCATTCCTGCACTCTGGGATGAAAATGCAGAAGGCAGGTCCCCCAGTACCTGCCTCGCACATAGCACCTGCCCCTGTGCAGCCCCCCATGATTCGGCGGGATATCACCTTCCCACCTGGCTCTGTTGAAGCCACACAGCCTGTGTTGAAGCAGAGGAGGCGGCTCACAATGAAAGACATTGGTAAGGAGATCTTCCTCATTCGGTTGCCTAATCTGCCCCTTTCCATCTTGTCCATTGTTCCCTCCACCTTACTATTCTGGATGAGGTTGAATCTGGTCCAGTGTTGACTAAAATAGAACCAAAGAACTTTGGAAAAGGAAGAAATAAGCTAACTAAAGGTTCTCCTTCATTGCCATGCAATGAAGTCCTAGACAGACAGCTTAGAAGCCATGAGGGGCTGGTGTGTTTCATCTCCCAGACAGAAACTGCCTTCCACCTTGTGTTATCTTCAGAGTAGCTTCACTGATGGGGCAGCCCTAGGGGTGCCTCCAGCCAACCTGGGCTTGGTGGATAGACGACATGGAGGTTTATTTCAGGAACCCCGGAGGCATGGCGGGTAATGATGTCCCTCAAGTCTGGTCTCCTGGCAGAGAGCACATGGGCATTAGATACCATCAACATCCTGCTGTATGATGACAACAGCATCATGACCTTCAACCTCAGTCAGGTGAGTATCAGTGCCTGGGGAAGA
|
benign
| 6,036 |
Evaluate if the mutation on chromosome 1 at position 26779184 in ARID1A (AT-rich interaction domain 1A) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
CTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCTTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCAAATGCCACCATGTCCAGCTATTTATTTATTTTGAGACAGGGTCTCCATTACTCAAGCTAGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCTCAACTTCCGAGGCTCAGGTGATCCTCCCACCTCAGCTTCCCAAGTGGCTGGGACTACAGGTGCGTGCAAACATGCTCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTGAGAGATGAGGCTTCACCATGTTGCCCAGGCTGATTTCAAACTCCTGGGCTCAAGTGATTGACCTACCTCAGCCTCTCAAAGTACTAGGATTACAGGTGTGAGCCACCGTTCCAGGCCCCGGATAACTTCTTTATTTTTTTATAGAGGCAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATTCTCCCACTTCAACCTTCCAAAGTGTTGGGATTACTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTCAGGAGGCCGAGGCAGGAGGATCATTTGAGGTCAGGAGTTTGAGGCCAGCTGGCCAACATGGTGAAACTCCATCTCTACTAAAACTATAAAAATTAGGCTGGGCGCAGTGGCTCACGCCAGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTTAGGAGTTCAAGACCATCCTGGCCAATATGGTGAAACTCCATCTCCACCAAAAATATAAAAATTAGCCGGGCCTGGTGGCACACACCTCTAATCCCAGCTACTTGGGAGGCAGAGGCAGAAGAATCACTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCTGTCTCAAAAAAAAAAAAAAAAAAATACACACACACACACTCTCACACACTAGCCCGATGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAAAAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGCCAACTGAGATCACACCACTGTACTCCAGCCTGGATGACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAGTGTTGGGATTACAGGTGTGAGCCACTGCTTCCAGCCCCTAGATCTAATTCGAAAGCCCTTATTTTTTTTTCCATCTGCTCTACTGTTCAGCCAAAGATTGTGACTGGAGAGGAGTGTTTTCTTCTAGAGGTAAATAAATGGCCTATATATTATCCAAGGTGGAATTTGGGTCTCTGTAGCACCAGCTTGGACCAGTGTTTGGAGAGCTGAAGCCTCGTCCCACTCCTTATGCTGCAAGATCCATGGAGTTCCAGCCCCCTGGACTTGTGGGGAGCTTGGAGAAGAGAGCCATGAACATCTGCCCACATGGCATTCTCTTCTCTTAGCTTAAGTCACCATGCCTAAGCTTGGGTTCCACTTGGCAGTGAGATGGAGAGAGTGTCCTAAAAGAGATAATGGCAATGACCACCAGGTTGAAAACTGGCCTGGTGAAGAAAAGCAGAAGATTAATTGGGAAAAGAGAAGGCTAAGAGATGATTGGCCCTGGTGGGTGAGGTGCAAAGCTGTTGGCTAGTGTTCCTGGAGATAGGCTTACGTGAAGGTAGGTTGGGCAGAAGAAAGAACTTTGTGTTGGGCATAGAAGAGATTAAGATGAACAATTTGCTCTGTGGAGAACCTTTGGGAAAGGAGCAACTCTGCCTCTCCCAACTGATACAGAAGACTTGGGGAGGTCTCTCAAGTCAATAATTCTGTTCTTAGGCCACTTTTCTCCCTTAATTTATTTCCTGTTCTTTCTCTTTTTAGCTCCCAGGGTTGCTAGAGCTCCTTGTAGAATATTTCCGACGATGCCTGATTGAGATCTTTGGCATTTTAAAGGAGTATGAGGTGGGTGACCCAGGACAGAGAACGCTACTGGATCCTGGGAGGTTCAGCAAGGTGTCTAGTCCAGCTCCCATGGAGGGTGGGGAAGAAGAAGAAGAACTTCTAGGTCCTAAACTAGAAGAGGAAGAAGAAGAGGAAGTAGTTGAAAATGATGAGGAGATAGCCTTTTCAGGCAAGGACAAGCCAGCTTCAGAGAATAGTGAGGAGAAGCTGATCAGTAAGTTTGACAAGCTTCCAGTAAAGATCGTACAGAAGAATGATCCATTTGTGGTGGACTGCTCAGATAAGCTTGGGCGTGTGCAGGAGTTTGACAGTGGCCTGCTGCACTGGCGGATTGGTGGGGGGGACACCACTGAGCATATCCAGACCCACTTCGAGAGCAAGACAGAGCTGCTGCCTTCCCGGCCTCACGCACCCTGCCCACCAGCCCCTCGGAAGCATGTGACAACAGCAGAGGGTACACCAGGGACAACAGACCAGGAGGGGCCCCCACCTGATGGACCTCCAGAAAAACGGATCACAGCCACTATGGATGACATGTTGTCTACTCGGTCTAGCACCTTGACCGAGGATGGAGCTAAGAGTTCAGAGGCCATCAAGGAGAGCAGCAAGTTTCCATTTGGCATTAGCCCAGCACAGAGCCACCGGAACATCAAGATCCTAGAGGACGAACCCCACAGTAAGGATGAGACCCCACTGTGTACCCTTCTGGACTGGCAGGATTCTCTTGCCAAGCGCTGCGTCTGTGTGTCCAATACCATTCGAAGCCTGTCATTTGTGCCAGGCAATGACTTTGAGATGTCCAAACACCCAGGGCTGCTGCTCATCCTGGGCAAGCTGATCCTGCTGCACCACAAGCACCCAGAACGGAAGCAGGCACCACTAACTTATGAAAAGGAGGAGGAACAGGACCAAGGGGTGAGCTGCAACAAAGTGGAGTGGTGGTGGGACTGCTTGGAGATGCTCCGGGAAAACACCTTGGTTACACTCGCCAACATCTCGGGGCAGTTGGACCTATCTCCATACCCCGAGAGCATTTGCCTGCCTGTCCTGGACGGACTCCTACACTGGGCAGTTTGCCCTTCAGCTGAAGCCCAGGACCCCTTTTCCACCCTGGGCCCCAATGCCGTCCTTTCCCCGCAGAGACTGGTCTTGGAAACCCTCAGCAAACTCAGCATCCAGGACAACAATGTGGACCTGATTCTGGCCACACCCCCCTTCAGCCGCCTGGAGAAGTTGTATAGCACTATGGTGCGCTTCCTCAGTGACCGAAAGAACCCGGTGTGCCGGGAGATGGCTGTGGTACTGCTGGCCAACCTGGCTCAGGGGGACAGCCTGGCAGCTCGTGCCATTGCAGTGCAGAAGGGCAGTATCGGCAACCTCCTGGGCTTCCTAGAGGACAGCCTTGCCGCCACACAGTTCCAGCAGAGCCAGGCCAGCCTCCTCCACATGCAGAACCCACCCTTTGAGCCAACTAGTGTGGACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTGGCCAAGGTGGACGAGAACCACTCAGAGTTTACTCTGTACGAATCACGGCTGTTGGACATCTCGGTATCACCGTTGATGAACTCATTGGTTTCACAAGTCATTTGTGATGTACTGTTTTTGATTGGCCAGTCATGACAGCCGTGGGACACCTCCCCCCCCCGTGTGTGTGTGCGTGTGTGGAGAACTTAGAAACTGACTGTTGCCCTTTATTTATGCAAAACCACCTCAGAATCCAGTTTACCCTGTGCTGTCCAGCTTCTCCCTTGGGAAAAAGTCTCTCCTGTTTCTCTCTCCTCCTTCCACCTCCCCTCCCTCCATCACCTCACGCCTTTCTGTTCCTTGTCCTCACCTTACTCCCCTCAGGACCCTACCCCACCCTCTTTGAAAAGACAAAGCTCTGCCTACATAGAAGACTTTTTTTATTTTAACCAAAGTTACTGTTGTTTACAGTGAGTTTGGGGAAAAAAAATAAAATAAAAATGGCTTTCCCAGTCCTTGCATCAACGGGATGCCACATTTCATAACTGTTTTTAATGGTAAAAAAAAAAAAAAAAAATACAAAAAAAAATTCTGAAGGACAAAAAAGGTGACTGCTGAACTGTGTGTGGTT
|
CTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCTTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCAAATGCCACCATGTCCAGCTATTTATTTATTTTGAGACAGGGTCTCCATTACTCAAGCTAGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCTCAACTTCCGAGGCTCAGGTGATCCTCCCACCTCAGCTTCCCAAGTGGCTGGGACTACAGGTGCGTGCAAACATGCTCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTGAGAGATGAGGCTTCACCATGTTGCCCAGGCTGATTTCAAACTCCTGGGCTCAAGTGATTGACCTACCTCAGCCTCTCAAAGTACTAGGATTACAGGTGTGAGCCACCGTTCCAGGCCCCGGATAACTTCTTTATTTTTTTATAGAGGCAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATTCTCCCACTTCAACCTTCCAAAGTGTTGGGATTACTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTCAGGAGGCCGAGGCAGGAGGATCATTTGAGGTCAGGAGTTTGAGGCCAGCTGGCCAACATGGTGAAACTCCATCTCTACTAAAACTATAAAAATTAGGCTGGGCGCAGTGGCTCACGCCAGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTTAGGAGTTCAAGACCATCCTGGCCAATATGGTGAAACTCCATCTCCACCAAAAATATAAAAATTAGCCGGGCCTGGTGGCACACACCTCTAATCCCAGCTACTTGGGAGGCAGAGGCAGAAGAATCACTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCTGTCTCAAAAAAAAAAAAAAAAAAATACACACACACACACTCTCACACACTAGCCCGATGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAAAAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGCCAACTGAGATCACACCACTGTACTCCAGCCTGGATGACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAGTGTTGGGATTACAGGTGTGAGCCACTGCTTCCAGCCCCTAGATCTAATTCGAAAGCCCTTATTTTTTTTTCCATCTGCTCTACTGTTCAGCCAAAGATTGTGACTGGAGAGGAGTGTTTTCTTCTAGAGGTAAATAAATGGCCTATATATTATCCAAGGTGGAATTTGGGTCTCTGTAGCACCAGCTTGGACCAGTGTTTGGAGAGCTGAAGCCTCGTCCCACTCCTTATGCTGCAAGATCCATGGAGTTCCAGCCCCCTGGACTTGTGGGGAGCTTGGAGAAGAGAGCCATGAACATCTGCCCACATGGCATTCTCTTCTCTTAGCTTAAGTCACCATGCCTAAGCTTGGGTTCCACTTGGCAGTGAGATGGAGAGAGTGTCCTAAAAGAGATAATGGCAATGACCACCAGGTTGAAAACTGGCCTGGTGAAGAAAAGCAGAAGATTAATTGGGAAAAGAGAAGGCTAAGAGATGATTGGCCCTGGTGGGTGAGGTGCAAAGCTGTTGGCTAGTGTTCCTGGAGATAGGCTTACGTGAAGGTAGGTTGGGCAGAAGAAAGAACTTTGTGTTGGGCATAGAAGAGATTAAGATGAACAATTTGCTCTGTGGAGAACCTTTGGGAAAGGAGCAACTCTGCCTCTCCCAACTGATACAGAAGACTTGGGGAGGTCTCTCAAGTCAATAATTCTGTTCTTAGGCCACTTTTCTCCCTTAATTTATTTCCTGTTCTTTCTCTTTTTAGCTCCCAGGGTTGCTAGAGCTCCTTGTAGAATATTTCCGACGATGCCTGATTGAGATCTTTGGCATTTTAAAGGAGTATGAGGTGGGTGACCCAGGACAGAGAACGCTACTGGATCCTGGGAGGTTCAGCAAGGTGTCTAGTCCAGCTCCCATGGAGGGTGGGGAAGAAGAAGAACTTCTAGGTCCTAAACTAGAAGAGGAAGAAGAAGAGGAAGTAGTTGAAAATGATGAGGAGATAGCCTTTTCAGGCAAGGACAAGCCAGCTTCAGAGAATAGTGAGGAGAAGCTGATCAGTAAGTTTGACAAGCTTCCAGTAAAGATCGTACAGAAGAATGATCCATTTGTGGTGGACTGCTCAGATAAGCTTGGGCGTGTGCAGGAGTTTGACAGTGGCCTGCTGCACTGGCGGATTGGTGGGGGGGACACCACTGAGCATATCCAGACCCACTTCGAGAGCAAGACAGAGCTGCTGCCTTCCCGGCCTCACGCACCCTGCCCACCAGCCCCTCGGAAGCATGTGACAACAGCAGAGGGTACACCAGGGACAACAGACCAGGAGGGGCCCCCACCTGATGGACCTCCAGAAAAACGGATCACAGCCACTATGGATGACATGTTGTCTACTCGGTCTAGCACCTTGACCGAGGATGGAGCTAAGAGTTCAGAGGCCATCAAGGAGAGCAGCAAGTTTCCATTTGGCATTAGCCCAGCACAGAGCCACCGGAACATCAAGATCCTAGAGGACGAACCCCACAGTAAGGATGAGACCCCACTGTGTACCCTTCTGGACTGGCAGGATTCTCTTGCCAAGCGCTGCGTCTGTGTGTCCAATACCATTCGAAGCCTGTCATTTGTGCCAGGCAATGACTTTGAGATGTCCAAACACCCAGGGCTGCTGCTCATCCTGGGCAAGCTGATCCTGCTGCACCACAAGCACCCAGAACGGAAGCAGGCACCACTAACTTATGAAAAGGAGGAGGAACAGGACCAAGGGGTGAGCTGCAACAAAGTGGAGTGGTGGTGGGACTGCTTGGAGATGCTCCGGGAAAACACCTTGGTTACACTCGCCAACATCTCGGGGCAGTTGGACCTATCTCCATACCCCGAGAGCATTTGCCTGCCTGTCCTGGACGGACTCCTACACTGGGCAGTTTGCCCTTCAGCTGAAGCCCAGGACCCCTTTTCCACCCTGGGCCCCAATGCCGTCCTTTCCCCGCAGAGACTGGTCTTGGAAACCCTCAGCAAACTCAGCATCCAGGACAACAATGTGGACCTGATTCTGGCCACACCCCCCTTCAGCCGCCTGGAGAAGTTGTATAGCACTATGGTGCGCTTCCTCAGTGACCGAAAGAACCCGGTGTGCCGGGAGATGGCTGTGGTACTGCTGGCCAACCTGGCTCAGGGGGACAGCCTGGCAGCTCGTGCCATTGCAGTGCAGAAGGGCAGTATCGGCAACCTCCTGGGCTTCCTAGAGGACAGCCTTGCCGCCACACAGTTCCAGCAGAGCCAGGCCAGCCTCCTCCACATGCAGAACCCACCCTTTGAGCCAACTAGTGTGGACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTGGCCAAGGTGGACGAGAACCACTCAGAGTTTACTCTGTACGAATCACGGCTGTTGGACATCTCGGTATCACCGTTGATGAACTCATTGGTTTCACAAGTCATTTGTGATGTACTGTTTTTGATTGGCCAGTCATGACAGCCGTGGGACACCTCCCCCCCCCGTGTGTGTGTGCGTGTGTGGAGAACTTAGAAACTGACTGTTGCCCTTTATTTATGCAAAACCACCTCAGAATCCAGTTTACCCTGTGCTGTCCAGCTTCTCCCTTGGGAAAAAGTCTCTCCTGTTTCTCTCTCCTCCTTCCACCTCCCCTCCCTCCATCACCTCACGCCTTTCTGTTCCTTGTCCTCACCTTACTCCCCTCAGGACCCTACCCCACCCTCTTTGAAAAGACAAAGCTCTGCCTACATAGAAGACTTTTTTTATTTTAACCAAAGTTACTGTTGTTTACAGTGAGTTTGGGGAAAAAAAATAAAATAAAAATGGCTTTCCCAGTCCTTGCATCAACGGGATGCCACATTTCATAACTGTTTTTAATGGTAAAAAAAAAAAAAAAAAATACAAAAAAAAATTCTGAAGGACAAAAAAGGTGACTGCTGAACTGTGTGTGGTTNNN
|
benign
| 6,065 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 26779197, gene ARID1A (AT-rich interaction domain 1A). What disease(s) is it linked to if pathogenic?
|
benign
|
CAAACTCCTGGGCTCAAGCGATCCTCTTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCAAATGCCACCATGTCCAGCTATTTATTTATTTTGAGACAGGGTCTCCATTACTCAAGCTAGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCTCAACTTCCGAGGCTCAGGTGATCCTCCCACCTCAGCTTCCCAAGTGGCTGGGACTACAGGTGCGTGCAAACATGCTCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTGAGAGATGAGGCTTCACCATGTTGCCCAGGCTGATTTCAAACTCCTGGGCTCAAGTGATTGACCTACCTCAGCCTCTCAAAGTACTAGGATTACAGGTGTGAGCCACCGTTCCAGGCCCCGGATAACTTCTTTATTTTTTTATAGAGGCAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATTCTCCCACTTCAACCTTCCAAAGTGTTGGGATTACTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTCAGGAGGCCGAGGCAGGAGGATCATTTGAGGTCAGGAGTTTGAGGCCAGCTGGCCAACATGGTGAAACTCCATCTCTACTAAAACTATAAAAATTAGGCTGGGCGCAGTGGCTCACGCCAGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTTAGGAGTTCAAGACCATCCTGGCCAATATGGTGAAACTCCATCTCCACCAAAAATATAAAAATTAGCCGGGCCTGGTGGCACACACCTCTAATCCCAGCTACTTGGGAGGCAGAGGCAGAAGAATCACTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCTGTCTCAAAAAAAAAAAAAAAAAAATACACACACACACACTCTCACACACTAGCCCGATGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAAAAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGCCAACTGAGATCACACCACTGTACTCCAGCCTGGATGACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAGTGTTGGGATTACAGGTGTGAGCCACTGCTTCCAGCCCCTAGATCTAATTCGAAAGCCCTTATTTTTTTTTCCATCTGCTCTACTGTTCAGCCAAAGATTGTGACTGGAGAGGAGTGTTTTCTTCTAGAGGTAAATAAATGGCCTATATATTATCCAAGGTGGAATTTGGGTCTCTGTAGCACCAGCTTGGACCAGTGTTTGGAGAGCTGAAGCCTCGTCCCACTCCTTATGCTGCAAGATCCATGGAGTTCCAGCCCCCTGGACTTGTGGGGAGCTTGGAGAAGAGAGCCATGAACATCTGCCCACATGGCATTCTCTTCTCTTAGCTTAAGTCACCATGCCTAAGCTTGGGTTCCACTTGGCAGTGAGATGGAGAGAGTGTCCTAAAAGAGATAATGGCAATGACCACCAGGTTGAAAACTGGCCTGGTGAAGAAAAGCAGAAGATTAATTGGGAAAAGAGAAGGCTAAGAGATGATTGGCCCTGGTGGGTGAGGTGCAAAGCTGTTGGCTAGTGTTCCTGGAGATAGGCTTACGTGAAGGTAGGTTGGGCAGAAGAAAGAACTTTGTGTTGGGCATAGAAGAGATTAAGATGAACAATTTGCTCTGTGGAGAACCTTTGGGAAAGGAGCAACTCTGCCTCTCCCAACTGATACAGAAGACTTGGGGAGGTCTCTCAAGTCAATAATTCTGTTCTTAGGCCACTTTTCTCCCTTAATTTATTTCCTGTTCTTTCTCTTTTTAGCTCCCAGGGTTGCTAGAGCTCCTTGTAGAATATTTCCGACGATGCCTGATTGAGATCTTTGGCATTTTAAAGGAGTATGAGGTGGGTGACCCAGGACAGAGAACGCTACTGGATCCTGGGAGGTTCAGCAAGGTGTCTAGTCCAGCTCCCATGGAGGGTGGGGAAGAAGAAGAAGAACTTCTAGGTCCTAAACTAGAAGAGGAAGAAGAAGAGGAAGTAGTTGAAAATGATGAGGAGATAGCCTTTTCAGGCAAGGACAAGCCAGCTTCAGAGAATAGTGAGGAGAAGCTGATCAGTAAGTTTGACAAGCTTCCAGTAAAGATCGTACAGAAGAATGATCCATTTGTGGTGGACTGCTCAGATAAGCTTGGGCGTGTGCAGGAGTTTGACAGTGGCCTGCTGCACTGGCGGATTGGTGGGGGGGACACCACTGAGCATATCCAGACCCACTTCGAGAGCAAGACAGAGCTGCTGCCTTCCCGGCCTCACGCACCCTGCCCACCAGCCCCTCGGAAGCATGTGACAACAGCAGAGGGTACACCAGGGACAACAGACCAGGAGGGGCCCCCACCTGATGGACCTCCAGAAAAACGGATCACAGCCACTATGGATGACATGTTGTCTACTCGGTCTAGCACCTTGACCGAGGATGGAGCTAAGAGTTCAGAGGCCATCAAGGAGAGCAGCAAGTTTCCATTTGGCATTAGCCCAGCACAGAGCCACCGGAACATCAAGATCCTAGAGGACGAACCCCACAGTAAGGATGAGACCCCACTGTGTACCCTTCTGGACTGGCAGGATTCTCTTGCCAAGCGCTGCGTCTGTGTGTCCAATACCATTCGAAGCCTGTCATTTGTGCCAGGCAATGACTTTGAGATGTCCAAACACCCAGGGCTGCTGCTCATCCTGGGCAAGCTGATCCTGCTGCACCACAAGCACCCAGAACGGAAGCAGGCACCACTAACTTATGAAAAGGAGGAGGAACAGGACCAAGGGGTGAGCTGCAACAAAGTGGAGTGGTGGTGGGACTGCTTGGAGATGCTCCGGGAAAACACCTTGGTTACACTCGCCAACATCTCGGGGCAGTTGGACCTATCTCCATACCCCGAGAGCATTTGCCTGCCTGTCCTGGACGGACTCCTACACTGGGCAGTTTGCCCTTCAGCTGAAGCCCAGGACCCCTTTTCCACCCTGGGCCCCAATGCCGTCCTTTCCCCGCAGAGACTGGTCTTGGAAACCCTCAGCAAACTCAGCATCCAGGACAACAATGTGGACCTGATTCTGGCCACACCCCCCTTCAGCCGCCTGGAGAAGTTGTATAGCACTATGGTGCGCTTCCTCAGTGACCGAAAGAACCCGGTGTGCCGGGAGATGGCTGTGGTACTGCTGGCCAACCTGGCTCAGGGGGACAGCCTGGCAGCTCGTGCCATTGCAGTGCAGAAGGGCAGTATCGGCAACCTCCTGGGCTTCCTAGAGGACAGCCTTGCCGCCACACAGTTCCAGCAGAGCCAGGCCAGCCTCCTCCACATGCAGAACCCACCCTTTGAGCCAACTAGTGTGGACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTGGCCAAGGTGGACGAGAACCACTCAGAGTTTACTCTGTACGAATCACGGCTGTTGGACATCTCGGTATCACCGTTGATGAACTCATTGGTTTCACAAGTCATTTGTGATGTACTGTTTTTGATTGGCCAGTCATGACAGCCGTGGGACACCTCCCCCCCCCGTGTGTGTGTGCGTGTGTGGAGAACTTAGAAACTGACTGTTGCCCTTTATTTATGCAAAACCACCTCAGAATCCAGTTTACCCTGTGCTGTCCAGCTTCTCCCTTGGGAAAAAGTCTCTCCTGTTTCTCTCTCCTCCTTCCACCTCCCCTCCCTCCATCACCTCACGCCTTTCTGTTCCTTGTCCTCACCTTACTCCCCTCAGGACCCTACCCCACCCTCTTTGAAAAGACAAAGCTCTGCCTACATAGAAGACTTTTTTTATTTTAACCAAAGTTACTGTTGTTTACAGTGAGTTTGGGGAAAAAAAATAAAATAAAAATGGCTTTCCCAGTCCTTGCATCAACGGGATGCCACATTTCATAACTGTTTTTAATGGTAAAAAAAAAAAAAAAAAATACAAAAAAAAATTCTGAAGGACAAAAAAGGTGACTGCTGAACTGTGTGTGGTTTATTGTTGTACAT
|
CAAACTCCTGGGCTCAAGCGATCCTCTTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCAAATGCCACCATGTCCAGCTATTTATTTATTTTGAGACAGGGTCTCCATTACTCAAGCTAGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCTCAACTTCCGAGGCTCAGGTGATCCTCCCACCTCAGCTTCCCAAGTGGCTGGGACTACAGGTGCGTGCAAACATGCTCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTGAGAGATGAGGCTTCACCATGTTGCCCAGGCTGATTTCAAACTCCTGGGCTCAAGTGATTGACCTACCTCAGCCTCTCAAAGTACTAGGATTACAGGTGTGAGCCACCGTTCCAGGCCCCGGATAACTTCTTTATTTTTTTATAGAGGCAGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATTCTCCCACTTCAACCTTCCAAAGTGTTGGGATTACTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTCAGGAGGCCGAGGCAGGAGGATCATTTGAGGTCAGGAGTTTGAGGCCAGCTGGCCAACATGGTGAAACTCCATCTCTACTAAAACTATAAAAATTAGGCTGGGCGCAGTGGCTCACGCCAGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTTAGGAGTTCAAGACCATCCTGGCCAATATGGTGAAACTCCATCTCCACCAAAAATATAAAAATTAGCCGGGCCTGGTGGCACACACCTCTAATCCCAGCTACTTGGGAGGCAGAGGCAGAAGAATCACTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCTGTCTCAAAAAAAAAAAAAAAAAAATACACACACACACACTCTCACACACTAGCCCGATGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAAAAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGCCAACTGAGATCACACCACTGTACTCCAGCCTGGATGACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAGTGTTGGGATTACAGGTGTGAGCCACTGCTTCCAGCCCCTAGATCTAATTCGAAAGCCCTTATTTTTTTTTCCATCTGCTCTACTGTTCAGCCAAAGATTGTGACTGGAGAGGAGTGTTTTCTTCTAGAGGTAAATAAATGGCCTATATATTATCCAAGGTGGAATTTGGGTCTCTGTAGCACCAGCTTGGACCAGTGTTTGGAGAGCTGAAGCCTCGTCCCACTCCTTATGCTGCAAGATCCATGGAGTTCCAGCCCCCTGGACTTGTGGGGAGCTTGGAGAAGAGAGCCATGAACATCTGCCCACATGGCATTCTCTTCTCTTAGCTTAAGTCACCATGCCTAAGCTTGGGTTCCACTTGGCAGTGAGATGGAGAGAGTGTCCTAAAAGAGATAATGGCAATGACCACCAGGTTGAAAACTGGCCTGGTGAAGAAAAGCAGAAGATTAATTGGGAAAAGAGAAGGCTAAGAGATGATTGGCCCTGGTGGGTGAGGTGCAAAGCTGTTGGCTAGTGTTCCTGGAGATAGGCTTACGTGAAGGTAGGTTGGGCAGAAGAAAGAACTTTGTGTTGGGCATAGAAGAGATTAAGATGAACAATTTGCTCTGTGGAGAACCTTTGGGAAAGGAGCAACTCTGCCTCTCCCAACTGATACAGAAGACTTGGGGAGGTCTCTCAAGTCAATAATTCTGTTCTTAGGCCACTTTTCTCCCTTAATTTATTTCCTGTTCTTTCTCTTTTTAGCTCCCAGGGTTGCTAGAGCTCCTTGTAGAATATTTCCGACGATGCCTGATTGAGATCTTTGGCATTTTAAAGGAGTATGAGGTGGGTGACCCAGGACAGAGAACGCTACTGGATCCTGGGAGGTTCAGCAAGGTGTCTAGTCCAGCTCCCATGGAGGGTGGGGAAGAAGAAGAACTTCTTCTAGGTCCTAAACTAGAAGAGGAAGAAGAAGAGGAAGTAGTTGAAAATGATGAGGAGATAGCCTTTTCAGGCAAGGACAAGCCAGCTTCAGAGAATAGTGAGGAGAAGCTGATCAGTAAGTTTGACAAGCTTCCAGTAAAGATCGTACAGAAGAATGATCCATTTGTGGTGGACTGCTCAGATAAGCTTGGGCGTGTGCAGGAGTTTGACAGTGGCCTGCTGCACTGGCGGATTGGTGGGGGGGACACCACTGAGCATATCCAGACCCACTTCGAGAGCAAGACAGAGCTGCTGCCTTCCCGGCCTCACGCACCCTGCCCACCAGCCCCTCGGAAGCATGTGACAACAGCAGAGGGTACACCAGGGACAACAGACCAGGAGGGGCCCCCACCTGATGGACCTCCAGAAAAACGGATCACAGCCACTATGGATGACATGTTGTCTACTCGGTCTAGCACCTTGACCGAGGATGGAGCTAAGAGTTCAGAGGCCATCAAGGAGAGCAGCAAGTTTCCATTTGGCATTAGCCCAGCACAGAGCCACCGGAACATCAAGATCCTAGAGGACGAACCCCACAGTAAGGATGAGACCCCACTGTGTACCCTTCTGGACTGGCAGGATTCTCTTGCCAAGCGCTGCGTCTGTGTGTCCAATACCATTCGAAGCCTGTCATTTGTGCCAGGCAATGACTTTGAGATGTCCAAACACCCAGGGCTGCTGCTCATCCTGGGCAAGCTGATCCTGCTGCACCACAAGCACCCAGAACGGAAGCAGGCACCACTAACTTATGAAAAGGAGGAGGAACAGGACCAAGGGGTGAGCTGCAACAAAGTGGAGTGGTGGTGGGACTGCTTGGAGATGCTCCGGGAAAACACCTTGGTTACACTCGCCAACATCTCGGGGCAGTTGGACCTATCTCCATACCCCGAGAGCATTTGCCTGCCTGTCCTGGACGGACTCCTACACTGGGCAGTTTGCCCTTCAGCTGAAGCCCAGGACCCCTTTTCCACCCTGGGCCCCAATGCCGTCCTTTCCCCGCAGAGACTGGTCTTGGAAACCCTCAGCAAACTCAGCATCCAGGACAACAATGTGGACCTGATTCTGGCCACACCCCCCTTCAGCCGCCTGGAGAAGTTGTATAGCACTATGGTGCGCTTCCTCAGTGACCGAAAGAACCCGGTGTGCCGGGAGATGGCTGTGGTACTGCTGGCCAACCTGGCTCAGGGGGACAGCCTGGCAGCTCGTGCCATTGCAGTGCAGAAGGGCAGTATCGGCAACCTCCTGGGCTTCCTAGAGGACAGCCTTGCCGCCACACAGTTCCAGCAGAGCCAGGCCAGCCTCCTCCACATGCAGAACCCACCCTTTGAGCCAACTAGTGTGGACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTGGCCAAGGTGGACGAGAACCACTCAGAGTTTACTCTGTACGAATCACGGCTGTTGGACATCTCGGTATCACCGTTGATGAACTCATTGGTTTCACAAGTCATTTGTGATGTACTGTTTTTGATTGGCCAGTCATGACAGCCGTGGGACACCTCCCCCCCCCGTGTGTGTGTGCGTGTGTGGAGAACTTAGAAACTGACTGTTGCCCTTTATTTATGCAAAACCACCTCAGAATCCAGTTTACCCTGTGCTGTCCAGCTTCTCCCTTGGGAAAAAGTCTCTCCTGTTTCTCTCTCCTCCTTCCACCTCCCCTCCCTCCATCACCTCACGCCTTTCTGTTCCTTGTCCTCACCTTACTCCCCTCAGGACCCTACCCCACCCTCTTTGAAAAGACAAAGCTCTGCCTACATAGAAGACTTTTTTTATTTTAACCAAAGTTACTGTTGTTTACAGTGAGTTTGGGGAAAAAAAATAAAATAAAAATGGCTTTCCCAGTCCTTGCATCAACGGGATGCCACATTTCATAACTGTTTTTAATGGTAAAAAAAAAAAAAAAAAATACAAAAAAAAATTCTGAAGGACAAAAAAGGTGACTGCTGAACTGTGTGTGGTTTATTGTTGTACAT
|
benign
| 6,066 |
Is the genetic mutation found on chromosome 1 at position 26780031, within the gene ARID1A (AT-rich interaction domain 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['ARID1A-related_BAFopathy', 'Intellectual_disability,_autosomal_dominant_14']
|
ACTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCTGTCTCAAAAAAAAAAAAAAAAAAATACACACACACACACTCTCACACACTAGCCCGATGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAAAAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGCCAACTGAGATCACACCACTGTACTCCAGCCTGGATGACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAGTGTTGGGATTACAGGTGTGAGCCACTGCTTCCAGCCCCTAGATCTAATTCGAAAGCCCTTATTTTTTTTTCCATCTGCTCTACTGTTCAGCCAAAGATTGTGACTGGAGAGGAGTGTTTTCTTCTAGAGGTAAATAAATGGCCTATATATTATCCAAGGTGGAATTTGGGTCTCTGTAGCACCAGCTTGGACCAGTGTTTGGAGAGCTGAAGCCTCGTCCCACTCCTTATGCTGCAAGATCCATGGAGTTCCAGCCCCCTGGACTTGTGGGGAGCTTGGAGAAGAGAGCCATGAACATCTGCCCACATGGCATTCTCTTCTCTTAGCTTAAGTCACCATGCCTAAGCTTGGGTTCCACTTGGCAGTGAGATGGAGAGAGTGTCCTAAAAGAGATAATGGCAATGACCACCAGGTTGAAAACTGGCCTGGTGAAGAAAAGCAGAAGATTAATTGGGAAAAGAGAAGGCTAAGAGATGATTGGCCCTGGTGGGTGAGGTGCAAAGCTGTTGGCTAGTGTTCCTGGAGATAGGCTTACGTGAAGGTAGGTTGGGCAGAAGAAAGAACTTTGTGTTGGGCATAGAAGAGATTAAGATGAACAATTTGCTCTGTGGAGAACCTTTGGGAAAGGAGCAACTCTGCCTCTCCCAACTGATACAGAAGACTTGGGGAGGTCTCTCAAGTCAATAATTCTGTTCTTAGGCCACTTTTCTCCCTTAATTTATTTCCTGTTCTTTCTCTTTTTAGCTCCCAGGGTTGCTAGAGCTCCTTGTAGAATATTTCCGACGATGCCTGATTGAGATCTTTGGCATTTTAAAGGAGTATGAGGTGGGTGACCCAGGACAGAGAACGCTACTGGATCCTGGGAGGTTCAGCAAGGTGTCTAGTCCAGCTCCCATGGAGGGTGGGGAAGAAGAAGAAGAACTTCTAGGTCCTAAACTAGAAGAGGAAGAAGAAGAGGAAGTAGTTGAAAATGATGAGGAGATAGCCTTTTCAGGCAAGGACAAGCCAGCTTCAGAGAATAGTGAGGAGAAGCTGATCAGTAAGTTTGACAAGCTTCCAGTAAAGATCGTACAGAAGAATGATCCATTTGTGGTGGACTGCTCAGATAAGCTTGGGCGTGTGCAGGAGTTTGACAGTGGCCTGCTGCACTGGCGGATTGGTGGGGGGGACACCACTGAGCATATCCAGACCCACTTCGAGAGCAAGACAGAGCTGCTGCCTTCCCGGCCTCACGCACCCTGCCCACCAGCCCCTCGGAAGCATGTGACAACAGCAGAGGGTACACCAGGGACAACAGACCAGGAGGGGCCCCCACCTGATGGACCTCCAGAAAAACGGATCACAGCCACTATGGATGACATGTTGTCTACTCGGTCTAGCACCTTGACCGAGGATGGAGCTAAGAGTTCAGAGGCCATCAAGGAGAGCAGCAAGTTTCCATTTGGCATTAGCCCAGCACAGAGCCACCGGAACATCAAGATCCTAGAGGACGAACCCCACAGTAAGGATGAGACCCCACTGTGTACCCTTCTGGACTGGCAGGATTCTCTTGCCAAGCGCTGCGTCTGTGTGTCCAATACCATTCGAAGCCTGTCATTTGTGCCAGGCAATGACTTTGAGATGTCCAAACACCCAGGGCTGCTGCTCATCCTGGGCAAGCTGATCCTGCTGCACCACAAGCACCCAGAACGGAAGCAGGCACCACTAACTTATGAAAAGGAGGAGGAACAGGACCAAGGGGTGAGCTGCAACAAAGTGGAGTGGTGGTGGGACTGCTTGGAGATGCTCCGGGAAAACACCTTGGTTACACTCGCCAACATCTCGGGGCAGTTGGACCTATCTCCATACCCCGAGAGCATTTGCCTGCCTGTCCTGGACGGACTCCTACACTGGGCAGTTTGCCCTTCAGCTGAAGCCCAGGACCCCTTTTCCACCCTGGGCCCCAATGCCGTCCTTTCCCCGCAGAGACTGGTCTTGGAAACCCTCAGCAAACTCAGCATCCAGGACAACAATGTGGACCTGATTCTGGCCACACCCCCCTTCAGCCGCCTGGAGAAGTTGTATAGCACTATGGTGCGCTTCCTCAGTGACCGAAAGAACCCGGTGTGCCGGGAGATGGCTGTGGTACTGCTGGCCAACCTGGCTCAGGGGGACAGCCTGGCAGCTCGTGCCATTGCAGTGCAGAAGGGCAGTATCGGCAACCTCCTGGGCTTCCTAGAGGACAGCCTTGCCGCCACACAGTTCCAGCAGAGCCAGGCCAGCCTCCTCCACATGCAGAACCCACCCTTTGAGCCAACTAGTGTGGACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTGGCCAAGGTGGACGAGAACCACTCAGAGTTTACTCTGTACGAATCACGGCTGTTGGACATCTCGGTATCACCGTTGATGAACTCATTGGTTTCACAAGTCATTTGTGATGTACTGTTTTTGATTGGCCAGTCATGACAGCCGTGGGACACCTCCCCCCCCCGTGTGTGTGTGCGTGTGTGGAGAACTTAGAAACTGACTGTTGCCCTTTATTTATGCAAAACCACCTCAGAATCCAGTTTACCCTGTGCTGTCCAGCTTCTCCCTTGGGAAAAAGTCTCTCCTGTTTCTCTCTCCTCCTTCCACCTCCCCTCCCTCCATCACCTCACGCCTTTCTGTTCCTTGTCCTCACCTTACTCCCCTCAGGACCCTACCCCACCCTCTTTGAAAAGACAAAGCTCTGCCTACATAGAAGACTTTTTTTATTTTAACCAAAGTTACTGTTGTTTACAGTGAGTTTGGGGAAAAAAAATAAAATAAAAATGGCTTTCCCAGTCCTTGCATCAACGGGATGCCACATTTCATAACTGTTTTTAATGGTAAAAAAAAAAAAAAAAAATACAAAAAAAAATTCTGAAGGACAAAAAAGGTGACTGCTGAACTGTGTGTGGTTTATTGTTGTACATTCACAATCTTGCAGGAGCCAAGAAGTTCGCAGTTGTGAACAGACCCTGTTCACTGGAGAGGCCTGTGCAGTAGAGTGTAGACCCTTTCATGTACTGTACTGTACACCTGATACTGTAAACATACTGTAATAATAATGTCTCACATGGAAACAGAAAACGCTGGGTCAGCAGCAAGCTGTAGTTTTTAAAAATGTTTTTAGTTAAACGTTGAGGAGAAAAAAAAAAAAGGCTTTTCCCCCAAAGTATCATGTGTGAACCTACAACACCCTGACCTCTTTCTCTCCTCCTTGATTGTATGAATAACCCTGAGATCACCTCTTAGAACTGGTTTTAACCTTTAGCTGCAGCGGCTACGCTGCCACGTGTGTATATATATGACGTTGTACATTGCACATACCCTTGGATCCCCACAGTTTGGTCCTCCTCCCAGCTACCCCTTTATAGTATGACGAGTTAACAAGTTGGTGACCTGCACAAAGCGAGACACAGCTATTTAATCTCTTGCCAGATATCGCCCCTCTTGGTGCGATGCTGTACAGGTCTCTGTAAAAAGTCCTTGCTGTCTCAGCAGCCAATCAACTTATAGTTTATTTTTTTCTGGGTTTTTGTTTTGTTTTGTTTTCTTTCTAATCGAGGTGTGAAAAAGTTCTAGGTTCAGTTGAAGTTCTGATGAAGAAACACAATTGAGATTTTTTCAGTGATAAAATCTGCATATTTGTATTTCAACAATGTAGCTAAAACTTGATGTAAATTCCTCCTTTTTTTCCTTTTTTGGCTTAATGAATATCATTTATTCAGTATGAAATCTTTATACTATATGTTCCACGTGTTAAG
|
ACTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCTGTCTCAAAAAAAAAAAAAAAAAAATACACACACACACACTCTCACACACTAGCCCGATGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAAAAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGCCAACTGAGATCACACCACTGTACTCCAGCCTGGATGACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAGTGTTGGGATTACAGGTGTGAGCCACTGCTTCCAGCCCCTAGATCTAATTCGAAAGCCCTTATTTTTTTTTCCATCTGCTCTACTGTTCAGCCAAAGATTGTGACTGGAGAGGAGTGTTTTCTTCTAGAGGTAAATAAATGGCCTATATATTATCCAAGGTGGAATTTGGGTCTCTGTAGCACCAGCTTGGACCAGTGTTTGGAGAGCTGAAGCCTCGTCCCACTCCTTATGCTGCAAGATCCATGGAGTTCCAGCCCCCTGGACTTGTGGGGAGCTTGGAGAAGAGAGCCATGAACATCTGCCCACATGGCATTCTCTTCTCTTAGCTTAAGTCACCATGCCTAAGCTTGGGTTCCACTTGGCAGTGAGATGGAGAGAGTGTCCTAAAAGAGATAATGGCAATGACCACCAGGTTGAAAACTGGCCTGGTGAAGAAAAGCAGAAGATTAATTGGGAAAAGAGAAGGCTAAGAGATGATTGGCCCTGGTGGGTGAGGTGCAAAGCTGTTGGCTAGTGTTCCTGGAGATAGGCTTACGTGAAGGTAGGTTGGGCAGAAGAAAGAACTTTGTGTTGGGCATAGAAGAGATTAAGATGAACAATTTGCTCTGTGGAGAACCTTTGGGAAAGGAGCAACTCTGCCTCTCCCAACTGATACAGAAGACTTGGGGAGGTCTCTCAAGTCAATAATTCTGTTCTTAGGCCACTTTTCTCCCTTAATTTATTTCCTGTTCTTTCTCTTTTTAGCTCCCAGGGTTGCTAGAGCTCCTTGTAGAATATTTCCGACGATGCCTGATTGAGATCTTTGGCATTTTAAAGGAGTATGAGGTGGGTGACCCAGGACAGAGAACGCTACTGGATCCTGGGAGGTTCAGCAAGGTGTCTAGTCCAGCTCCCATGGAGGGTGGGGAAGAAGAAGAAGAACTTCTAGGTCCTAAACTAGAAGAGGAAGAAGAAGAGGAAGTAGTTGAAAATGATGAGGAGATAGCCTTTTCAGGCAAGGACAAGCCAGCTTCAGAGAATAGTGAGGAGAAGCTGATCAGTAAGTTTGACAAGCTTCCAGTAAAGATCGTACAGAAGAATGATCCATTTGTGGTGGACTGCTCAGATAAGCTTGGGCGTGTGCAGGAGTTTGACAGTGGCCTGCTGCACTGGCGGATTGGTGGGGGGGACACCACTGAGCATATCCAGACCCACTTCGAGAGCAAGACAGAGCTGCTGCCTTCCCGGCCTCACGCACCCTGCCCACCAGCCCCTCGGAAGCATGTGACAACAGCAGAGGGTACACCAGGGACAACAGACCAGGAGGGGCCCCCACCTGATGGACCTCCAGAAAAACGGATCACAGCCACTATGGATGACATGTTGTCTACTCGGTCTAGCACCTTGACCGAGGATGGAGCTAAGAGTTCAGAGGCCATCAAGGAGAGCAGCAAGTTTCCATTTGGCATTAGCCCAGCACAGAGCCACCGGAACATCAAGATCCTAGAGGACGAACCCCACAGTAAGGATGAGACCCCACTGTGTACCCTTCTGGACTGGCAGGATTCTCTTGCCAAGCGCTGCGTCTGTGTGTCCAATACCATTCGAAGCCTGTCATTTGTGCCAGGCAATGACTTTGAGATGTCCAAACACCCAGGGCTGCTGCTCATCCTGGGCAAGCTGATCCTGCTGCACCACAAGCACCCAGAACGGAAGCAGGCACCACTAACTTATGAAAAGGAGGAGGAACAGGACCAAGGGGTGAGCTGCAACAGAGTGGTGGTGGGACTGCTTGGAGATGCTCCGGGAAAACACCTTGGTTACACTCGCCAACATCTCGGGGCAGTTGGACCTATCTCCATACCCCGAGAGCATTTGCCTGCCTGTCCTGGACGGACTCCTACACTGGGCAGTTTGCCCTTCAGCTGAAGCCCAGGACCCCTTTTCCACCCTGGGCCCCAATGCCGTCCTTTCCCCGCAGAGACTGGTCTTGGAAACCCTCAGCAAACTCAGCATCCAGGACAACAATGTGGACCTGATTCTGGCCACACCCCCCTTCAGCCGCCTGGAGAAGTTGTATAGCACTATGGTGCGCTTCCTCAGTGACCGAAAGAACCCGGTGTGCCGGGAGATGGCTGTGGTACTGCTGGCCAACCTGGCTCAGGGGGACAGCCTGGCAGCTCGTGCCATTGCAGTGCAGAAGGGCAGTATCGGCAACCTCCTGGGCTTCCTAGAGGACAGCCTTGCCGCCACACAGTTCCAGCAGAGCCAGGCCAGCCTCCTCCACATGCAGAACCCACCCTTTGAGCCAACTAGTGTGGACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTGGCCAAGGTGGACGAGAACCACTCAGAGTTTACTCTGTACGAATCACGGCTGTTGGACATCTCGGTATCACCGTTGATGAACTCATTGGTTTCACAAGTCATTTGTGATGTACTGTTTTTGATTGGCCAGTCATGACAGCCGTGGGACACCTCCCCCCCCCGTGTGTGTGTGCGTGTGTGGAGAACTTAGAAACTGACTGTTGCCCTTTATTTATGCAAAACCACCTCAGAATCCAGTTTACCCTGTGCTGTCCAGCTTCTCCCTTGGGAAAAAGTCTCTCCTGTTTCTCTCTCCTCCTTCCACCTCCCCTCCCTCCATCACCTCACGCCTTTCTGTTCCTTGTCCTCACCTTACTCCCCTCAGGACCCTACCCCACCCTCTTTGAAAAGACAAAGCTCTGCCTACATAGAAGACTTTTTTTATTTTAACCAAAGTTACTGTTGTTTACAGTGAGTTTGGGGAAAAAAAATAAAATAAAAATGGCTTTCCCAGTCCTTGCATCAACGGGATGCCACATTTCATAACTGTTTTTAATGGTAAAAAAAAAAAAAAAAAATACAAAAAAAAATTCTGAAGGACAAAAAAGGTGACTGCTGAACTGTGTGTGGTTTATTGTTGTACATTCACAATCTTGCAGGAGCCAAGAAGTTCGCAGTTGTGAACAGACCCTGTTCACTGGAGAGGCCTGTGCAGTAGAGTGTAGACCCTTTCATGTACTGTACTGTACACCTGATACTGTAAACATACTGTAATAATAATGTCTCACATGGAAACAGAAAACGCTGGGTCAGCAGCAAGCTGTAGTTTTTAAAAATGTTTTTAGTTAAACGTTGAGGAGAAAAAAAAAAAAGGCTTTTCCCCCAAAGTATCATGTGTGAACCTACAACACCCTGACCTCTTTCTCTCCTCCTTGATTGTATGAATAACCCTGAGATCACCTCTTAGAACTGGTTTTAACCTTTAGCTGCAGCGGCTACGCTGCCACGTGTGTATATATATGACGTTGTACATTGCACATACCCTTGGATCCCCACAGTTTGGTCCTCCTCCCAGCTACCCCTTTATAGTATGACGAGTTAACAAGTTGGTGACCTGCACAAAGCGAGACACAGCTATTTAATCTCTTGCCAGATATCGCCCCTCTTGGTGCGATGCTGTACAGGTCTCTGTAAAAAGTCCTTGCTGTCTCAGCAGCCAATCAACTTATAGTTTATTTTTTTCTGGGTTTTTGTTTTGTTTTGTTTTCTTTCTAATCGAGGTGTGAAAAAGTTCTAGGTTCAGTTGAAGTTCTGATGAAGAAACACAATTGAGATTTTTTCAGTGATAAAATCTGCATATTTGTATTTCAACAATGTAGCTAAAACTTGATGTAAATTCCTCCTTTTTTTCCTTTTTTGGCTTAATGAATATCATTTATTCAGTATGAAATCTTTATACTATATGTTCCACGTGTTAAGNNNNN
|
pathogenic
| 6,078 |
The genetic variant at chromosome 1, position 27548841, affecting gene AHDC1 (AT-hook DNA binding motif containing 1): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
GGTGCCAGCAGGGCTGGTCCTCTGGATAGGCCCTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCTTGCCCTTAAATCCTGCATTTGCTTCCTGCACTCCATACCTCTGTCCTTGCCTAAGCTCTGATGTCCTCTTCCCACCCCCAGGCCTCTGCCCACTGCGCCCACATCCCCAGACTCACCCAGGAACAAAACCTCGCGGTCCAGTCGGCACTTCAGTTGGCACTACAGGGATGTGACGGTGAATGTGTCCTCGGGGTGAGGTTCCGCCATGGGCCCCAGGAAGCCGCTCTTGGGGCCCCCACCCAGGCCAGGATGCGCCTGGGGCATAAAGCCTGGGTACCTGTAGGCGGTGTCCTGCAGGGGCAGCAGCGAGTCCCTCGGCACGGGGGACAGGGTCAAGTCACTAAGGAGTGGGCAGCCATAGCCAGCAGCGGCTGCAGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTC
|
GGTGCCAGCAGGGCTGGTCCTCTGGATAGGCCCTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCTTGCCCTTAAATCCTGCATTTGCTTCCTGCACTCCATACCTCTGTCCTTGCCTAAGCTCTGATGTCCTCTTCCCACCCCCAGGCCTCTGCCCACTGCGCCCACATCCCCAGACTCACCCAGGAACAAAACCTCGCGGTCCAGTCGGCACTTCAGTTGGCACTACAGGGATGTGACGGTGAATGTGTCCTCGGGGTGAGGTTCCGCCATGGGCCCCAGGAAGCCGCTCTTGGGGCCCCCACCCAGGCCAGGATGCGCCTGGGGCATAAAGCCTGGGTACCTGTAGGCGGTGTCCTGCAGGGGCAGCAGCGAGTCCCTCGGCACGGGGGACAGGGTCAAGTCACTAAGGAGTGGGCAGCCATAGCCAGCAGCGGCTGCAGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCC
|
benign
| 6,199 |
Clinical significance of chromosome 1, position 27548841, gene AHDC1 (AT-hook DNA binding motif containing 1): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
GGTGCCAGCAGGGCTGGTCCTCTGGATAGGCCCTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCTTGCCCTTAAATCCTGCATTTGCTTCCTGCACTCCATACCTCTGTCCTTGCCTAAGCTCTGATGTCCTCTTCCCACCCCCAGGCCTCTGCCCACTGCGCCCACATCCCCAGACTCACCCAGGAACAAAACCTCGCGGTCCAGTCGGCACTTCAGTTGGCACTACAGGGATGTGACGGTGAATGTGTCCTCGGGGTGAGGTTCCGCCATGGGCCCCAGGAAGCCGCTCTTGGGGCCCCCACCCAGGCCAGGATGCGCCTGGGGCATAAAGCCTGGGTACCTGTAGGCGGTGTCCTGCAGGGGCAGCAGCGAGTCCCTCGGCACGGGGGACAGGGTCAAGTCACTAAGGAGTGGGCAGCCATAGCCAGCAGCGGCTGCAGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTC
|
GGTGCCAGCAGGGCTGGTCCTCTGGATAGGCCCTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCTTGCCCTTAAATCCTGCATTTGCTTCCTGCACTCCATACCTCTGTCCTTGCCTAAGCTCTGATGTCCTCTTCCCACCCCCAGGCCTCTGCCCACTGCGCCCACATCCCCAGACTCACCCAGGAACAAAACCTCGCGGTCCAGTCGGCACTTCAGTTGGCACTACAGGGATGTGACGGTGAATGTGTCCTCGGGGTGAGGTTCCGCCATGGGCCCCAGGAAGCCGCTCTTGGGGCCCCCACCCAGGCCAGGATGCGCCTGGGGCATAAAGCCTGGGTACCTGTAGGCGGTGTCCTGCAGGGGCAGCAGCGAGTCCCTCGGCACGGGGGACAGGGTCAAGTCACTAAGGAGTGGGCAGCCATAGCCAGCAGCGGCTGCAGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCNNNNNN
|
benign
| 6,200 |
Gene AHDC1 (AT-hook DNA binding motif containing 1) variant at chromosome position 27548873 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
CTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCTTGCCCTTAAATCCTGCATTTGCTTCCTGCACTCCATACCTCTGTCCTTGCCTAAGCTCTGATGTCCTCTTCCCACCCCCAGGCCTCTGCCCACTGCGCCCACATCCCCAGACTCACCCAGGAACAAAACCTCGCGGTCCAGTCGGCACTTCAGTTGGCACTACAGGGATGTGACGGTGAATGTGTCCTCGGGGTGAGGTTCCGCCATGGGCCCCAGGAAGCCGCTCTTGGGGCCCCCACCCAGGCCAGGATGCGCCTGGGGCATAAAGCCTGGGTACCTGTAGGCGGTGTCCTGCAGGGGCAGCAGCGAGTCCCTCGGCACGGGGGACAGGGTCAAGTCACTAAGGAGTGGGCAGCCATAGCCAGCAGCGGCTGCAGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGG
|
CTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCTTGCCCTTAAATCCTGCATTTGCTTCCTGCACTCCATACCTCTGTCCTTGCCTAAGCTCTGATGTCCTCTTCCCACCCCCAGGCCTCTGCCCACTGCGCCCACATCCCCAGACTCACCCAGGAACAAAACCTCGCGGTCCAGTCGGCACTTCAGTTGGCACTACAGGGATGTGACGGTGAATGTGTCCTCGGGGTGAGGTTCCGCCATGGGCCCCAGGAAGCCGCTCTTGGGGCCCCCACCCAGGCCAGGATGCGCCTGGGGCATAAAGCCTGGGTACCTGTAGGCGGTGTCCTGCAGGGGCAGCAGCGAGTCCCTCGGCACGGGGGACAGGGTCAAGTCACTAAGGAGTGGGCAGCCATAGCCAGCAGCGGCTGCAGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGNNNNNNNNN
|
benign
| 6,203 |
Is the chromosome 1, position 27549006 variant in AHDC1 (AT-hook DNA binding motif containing 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
GAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCTTGCCCTTAAATCCTGCATTTGCTTCCTGCACTCCATACCTCTGTCCTTGCCTAAGCTCTGATGTCCTCTTCCCACCCCCAGGCCTCTGCCCACTGCGCCCACATCCCCAGACTCACCCAGGAACAAAACCTCGCGGTCCAGTCGGCACTTCAGTTGGCACTACAGGGATGTGACGGTGAATGTGTCCTCGGGGTGAGGTTCCGCCATGGGCCCCAGGAAGCCGCTCTTGGGGCCCCCACCCAGGCCAGGATGCGCCTGGGGCATAAAGCCTGGGTACCTGTAGGCGGTGTCCTGCAGGGGCAGCAGCGAGTCCCTCGGCACGGGGGACAGGGTCAAGTCACTAAGGAGTGGGCAGCCATAGCCAGCAGCGGCTGCAGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCC
|
GAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCTTGCCCTTAAATCCTGCATTTGCTTCCTGCACTCCATACCTCTGTCCTTGCCTAAGCTCTGATGTCCTCTTCCCACCCCCAGGCCTCTGCCCACTGCGCCCACATCCCCAGACTCACCCAGGAACAAAACCTCGCGGTCCAGTCGGCACTTCAGTTGGCACTACAGGGATGTGACGGTGAATGTGTCCTCGGGGTGAGGTTCCGCCATGGGCCCCAGGAAGCCGCTCTTGGGGCCCCCACCCAGGCCAGGATGCGCCTGGGGCATAAAGCCTGGGTACCTGTAGGCGGTGTCCTGCAGGGGCAGCAGCGAGTCCCTCGGCACGGGGGACAGGGTCAAGTCACTAAGGAGTGGGCAGCCATAGCCAGCAGCGGCTGCAGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCNNN
|
benign
| 6,207 |
Clinically, how would you classify the variant at chromosome 1, position 27549568, gene AHDC1 (AT-hook DNA binding motif containing 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome', 'Delayed_speech_and_language_development', 'Global_developmental_delay', 'Hypotonia', 'Intellectual_disability', 'Neonatal_hypotonia', 'Sleep_apnea']
|
AGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAG
|
AGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGN
|
pathogenic
| 6,231 |
Determine whether the variant at chromosome 1, position 27549741, in gene AHDC1 (AT-hook DNA binding motif containing 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome', 'Delayed_speech_and_language_development', 'Global_developmental_delay', 'Hypotonia', 'Intellectual_disability', 'Neonatal_hypotonia', 'Sleep_apnea']
|
GGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGAAGCTGTACTGTAGGTCGCCGGGTGGCGGTGCAGGCGGGCGGCTCAGTCGGAGCCCACCACAGTCCAGGTGTACACCACTGTGCTGCAGGTCCTGGGAGAGGCGTGTCAGGTCCTTCATGATGTCAATCAGCTGCACCACTGGTCGCAGGTTCACCCGCCCGTTGTCCCAGCA
|
GGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTGGGCGAGTCGCAGTGGAAGCCTTGGCCAAAGGTGCCATCGGAAGGCGTGGACGGGTTCATGGAGTAGGGTCCTATGAAGTCACAGGGGTCTCGCTCTCCCACGCCGAAGGCCCTCGACTGTGAGGGCAGTGGTGACATGCTGCTGTCCCCGCTATAGTAGTCCAGGCCGAGGTCAGGACTGTCCTGGAACAGTGGGTTGACTGGCTGTGGCTTGGGGATGAACTTGGCTTTGGCCGCTGCGCCACCCCGCTCCTTCTTGGCTGAGCAGGCCCCACCGCCCCGTCCACCTCGCGGCTGCCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGAAGCTGTACTGTAGGTCGCCGGGTGGCGGTGCAGGCGGGCGGCTCAGTCGGAGCCCACCACAGTCCAGGTGTACACCACTGTGCTGCAGGTCCTGGGAGAGGCGTGTCAGGTCCTTCATGATGTCAATCAGCTGCACCACTGGTCGCAGGTTCACCCGCCCGTTGTCCCAGCANN
|
pathogenic
| 6,236 |
Classify the chromosome 1 variant at position 27550357 affecting gene AHDC1 (AT-hook DNA binding motif containing 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome', 'Neurodevelopmental_abnormality']
|
CCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGAAGCTGTACTGTAGGTCGCCGGGTGGCGGTGCAGGCGGGCGGCTCAGTCGGAGCCCACCACAGTCCAGGTGTACACCACTGTGCTGCAGGTCCTGGGAGAGGCGTGTCAGGTCCTTCATGATGTCAATCAGCTGCACCACTGGTCGCAGGTTCACCCGCCCGTTGTCCCAGCAGCGTCGGGAGCTGCTGCCGTCTCCGACCGGTGTGGGGCAGCGGGCCTGTGAGACAGGACGGGCTGCCCGTGGGGGCAGCGGGTCGTCCCCCTTGGCAAGGACTGGTGGGCGCCGGGTGCTGGGGTCCCGGCGTGGGGGTGGGCGTGGGTTCTCGGAGAAGGCGTGGGTGGAGAAGGCCTTGTCAGGTGGGCTGGCAGGGGGCCGGGTGGGAAGCAGGGGCCGGGGGGTGGGGGGGCCGCCGGGGTAGTACTTGGGTTCCCGGAGGTAGTCAGGAGAGCTGCACACGGCACTGGAAGTCACCACCAGGCCCTGGGGCTTCACACGCATCCTGACCTTGTCCTCCGCAGGCCGCCGGGCGGGGCCGGGGCTGACATGAGGGTGCGAGAAGCCGGGACCAGGACCTGCCAGGCAGGAAGAGCAGGAGGTCCCTTACTGAACACCTACATCCTCATCAGCTTCCCATATCCTTGATGAGCTCCTGGACCCCTCCCTCCTGAGGTCTCATCTCCTTACCAAGCTCCCCTCCCCACCCCAAGCCCCATCCCCTTGCTGACTCCCAGCCTTTCTCAAACCACCATGTGTATAGTGAGCCCCTCATGGGCCCAGTTTCACTTTT
|
CCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGAAGCTGTACTGTAGGTCGCCGGGTGGCGGTGCAGGCGGGCGGCTCAGTCGGAGCCCACCACAGTCCAGGTGTACACCACTGTGCTGCAGGTCCTGGGAGAGGCGTGTCAGGTCCTTCATGATGTCAATCAGCTGCACCACTGGTCGCAGGTTCACCCGCCCGTTGTCCCAGCAGCGTCGGGAGCTGCTGCCGTCTCCGACCGGTGTGGGGCAGCGGGCCTGTGAGACAGGACGGGCTGCCCGTGGGGGCAGCGGGTCGTCCCCCTTGGCAAGGACTGGTGGGCGCCGGGTGCTGGGGTCCCGGCGTGGGGGTGGGCGTGGGTTCTCGGAGAAGGCGTGGGTGGAGAAGGCCTTGTCAGGTGGGCTGGCAGGGGGCCGGGTGGGAAGCAGGGGCCGGGGGGTGGGGGGGCCGCCGGGGTAGTACTTGGGTTCCCGGAGGTAGTCAGGAGAGCTGCACACGGCACTGGAAGTCACCACCAGGCCCTGGGGCTTCACACGCATCCTGACCTTGTCCTCCGCAGGCCGCCGGGCGGGGCCGGGGCTGACATGAGGGTGCGAGAAGCCGGGACCAGGACCTGCCAGGCAGGAAGAGCAGGAGGTCCCTTACTGAACACCTACATCCTCATCAGCTTCCCATATCCTTGATGAGCTCCTGGACCCCTCCCTCCTGAGGTCTCATCTCCTTACCAAGCTCCCCTCCCCACCCCAAGCCCCATCCCCTTGCTGACTCCCAGCCTTTCTCAAACCACCATGTGTATAGTGAGCCCCTCATGGGCCCAGTTTCACTTT
|
pathogenic
| 6,250 |
Gene AHDC1 (AT-hook DNA binding motif containing 1) variant at chromosome 1, position 27550633—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome']
|
AACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGAAGCTGTACTGTAGGTCGCCGGGTGGCGGTGCAGGCGGGCGGCTCAGTCGGAGCCCACCACAGTCCAGGTGTACACCACTGTGCTGCAGGTCCTGGGAGAGGCGTGTCAGGTCCTTCATGATGTCAATCAGCTGCACCACTGGTCGCAGGTTCACCCGCCCGTTGTCCCAGCAGCGTCGGGAGCTGCTGCCGTCTCCGACCGGTGTGGGGCAGCGGGCCTGTGAGACAGGACGGGCTGCCCGTGGGGGCAGCGGGTCGTCCCCCTTGGCAAGGACTGGTGGGCGCCGGGTGCTGGGGTCCCGGCGTGGGGGTGGGCGTGGGTTCTCGGAGAAGGCGTGGGTGGAGAAGGCCTTGTCAGGTGGGCTGGCAGGGGGCCGGGTGGGAAGCAGGGGCCGGGGGGTGGGGGGGCCGCCGGGGTAGTACTTGGGTTCCCGGAGGTAGTCAGGAGAGCTGCACACGGCACTGGAAGTCACCACCAGGCCCTGGGGCTTCACACGCATCCTGACCTTGTCCTCCGCAGGCCGCCGGGCGGGGCCGGGGCTGACATGAGGGTGCGAGAAGCCGGGACCAGGACCTGCCAGGCAGGAAGAGCAGGAGGTCCCTTACTGAACACCTACATCCTCATCAGCTTCCCATATCCTTGATGAGCTCCTGGACCCCTCCCTCCTGAGGTCTCATCTCCTTACCAAGCTCCCCTCCCCACCCCAAGCCCCATCCCCTTGCTGACTCCCAGCCTTTCTCAAACCACCATGTGTATAGTGAGCCCCTCATGGGCCCAGTTTCACTTTTTTTTTTTTTTTTGGAAGAGAGTCTCACTCTGTCGCCCAGGCTAGAGTGAAGCAGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCTAGTGCAAGCGATTCTCAGGTGTCAGCCTCCCAAGCACCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTGGAGCTCCTGACCTCAGATGATCCACTTGCCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGA
|
AACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGAAGCTGTACTGTAGGTCGCCGGGTGGCGGTGCAGGCGGGCGGCTCAGTCGGAGCCCACCACAGTCCAGGTGTACACCACTGTGCTGCAGGTCCTGGGAGAGGCGTGTCAGGTCCTTCATGATGTCAATCAGCTGCACCACTGGTCGCAGGTTCACCCGCCCGTTGTCCCAGCAGCGTCGGGAGCTGCTGCCGTCTCCGACCGGTGTGGGGCAGCGGGCCTGTGAGACAGGACGGGCTGCCCGTGGGGGCAGCGGGTCGTCCCCCTTGGCAAGGACTGGTGGGCGCCGGGTGCTGGGGTCCCGGCGTGGGGGTGGGCGTGGGTTCTCGGAGAAGGCGTGGGTGGAGAAGGCCTTGTCAGGTGGGCTGGCAGGGGGCCGGGTGGGAAGCAGGGGCCGGGGGGTGGGGGGGCCGCCGGGGTAGTACTTGGGTTCCCGGAGGTAGTCAGGAGAGCTGCACACGGCACTGGAAGTCACCACCAGGCCCTGGGGCTTCACACGCATCCTGACCTTGTCCTCCGCAGGCCGCCGGGCGGGGCCGGGGCTGACATGAGGGTGCGAGAAGCCGGGACCAGGACCTGCCAGGCAGGAAGAGCAGGAGGTCCCTTACTGAACACCTACATCCTCATCAGCTTCCCATATCCTTGATGAGCTCCTGGACCCCTCCCTCCTGAGGTCTCATCTCCTTACCAAGCTCCCCTCCCCACCCCAAGCCCCATCCCCTTGCTGACTCCCAGCCTTTCTCAAACCACCATGTGTATAGTGAGCCCCTCATGGGCCCAGTTTCACTTTTTTTTTTTTTTTTGGAAGAGAGTCTCACTCTGTCGCCCAGGCTAGAGTGAAGCAGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCTAGTGCAAGCGATTCTCAGGTGTCAGCCTCCCAAGCACCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTGGAGCTCCTGACCTCAGATGATCCACTTGCCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGANN
|
pathogenic
| 6,259 |
Clinical classification of chromosome 1, position 27550682, gene AHDC1 (AT-hook DNA binding motif containing 1): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome', 'Inborn_genetic_diseases']
|
TCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGAAGCTGTACTGTAGGTCGCCGGGTGGCGGTGCAGGCGGGCGGCTCAGTCGGAGCCCACCACAGTCCAGGTGTACACCACTGTGCTGCAGGTCCTGGGAGAGGCGTGTCAGGTCCTTCATGATGTCAATCAGCTGCACCACTGGTCGCAGGTTCACCCGCCCGTTGTCCCAGCAGCGTCGGGAGCTGCTGCCGTCTCCGACCGGTGTGGGGCAGCGGGCCTGTGAGACAGGACGGGCTGCCCGTGGGGGCAGCGGGTCGTCCCCCTTGGCAAGGACTGGTGGGCGCCGGGTGCTGGGGTCCCGGCGTGGGGGTGGGCGTGGGTTCTCGGAGAAGGCGTGGGTGGAGAAGGCCTTGTCAGGTGGGCTGGCAGGGGGCCGGGTGGGAAGCAGGGGCCGGGGGGTGGGGGGGCCGCCGGGGTAGTACTTGGGTTCCCGGAGGTAGTCAGGAGAGCTGCACACGGCACTGGAAGTCACCACCAGGCCCTGGGGCTTCACACGCATCCTGACCTTGTCCTCCGCAGGCCGCCGGGCGGGGCCGGGGCTGACATGAGGGTGCGAGAAGCCGGGACCAGGACCTGCCAGGCAGGAAGAGCAGGAGGTCCCTTACTGAACACCTACATCCTCATCAGCTTCCCATATCCTTGATGAGCTCCTGGACCCCTCCCTCCTGAGGTCTCATCTCCTTACCAAGCTCCCCTCCCCACCCCAAGCCCCATCCCCTTGCTGACTCCCAGCCTTTCTCAAACCACCATGTGTATAGTGAGCCCCTCATGGGCCCAGTTTCACTTTTTTTTTTTTTTTTGGAAGAGAGTCTCACTCTGTCGCCCAGGCTAGAGTGAAGCAGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCTAGTGCAAGCGATTCTCAGGTGTCAGCCTCCCAAGCACCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTGGAGCTCCTGACCTCAGATGATCCACTTGCCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGTTTCACTTATTGACAGCTCATCCCCTTTGG
|
TCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCTCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGAAGCTGTACTGTAGGTCGCCGGGTGGCGGTGCAGGCGGGCGGCTCAGTCGGAGCCCACCACAGTCCAGGTGTACACCACTGTGCTGCAGGTCCTGGGAGAGGCGTGTCAGGTCCTTCATGATGTCAATCAGCTGCACCACTGGTCGCAGGTTCACCCGCCCGTTGTCCCAGCAGCGTCGGGAGCTGCTGCCGTCTCCGACCGGTGTGGGGCAGCGGGCCTGTGAGACAGGACGGGCTGCCCGTGGGGGCAGCGGGTCGTCCCCCTTGGCAAGGACTGGTGGGCGCCGGGTGCTGGGGTCCCGGCGTGGGGGTGGGCGTGGGTTCTCGGAGAAGGCGTGGGTGGAGAAGGCCTTGTCAGGTGGGCTGGCAGGGGGCCGGGTGGGAAGCAGGGGCCGGGGGGTGGGGGGGCCGCCGGGGTAGTACTTGGGTTCCCGGAGGTAGTCAGGAGAGCTGCACACGGCACTGGAAGTCACCACCAGGCCCTGGGGCTTCACACGCATCCTGACCTTGTCCTCCGCAGGCCGCCGGGCGGGGCCGGGGCTGACATGAGGGTGCGAGAAGCCGGGACCAGGACCTGCCAGGCAGGAAGAGCAGGAGGTCCCTTACTGAACACCTACATCCTCATCAGCTTCCCATATCCTTGATGAGCTCCTGGACCCCTCCCTCCTGAGGTCTCATCTCCTTACCAAGCTCCCCTCCCCACCCCAAGCCCCATCCCCTTGCTGACTCCCAGCCTTTCTCAAACCACCATGTGTATAGTGAGCCCCTCATGGGCCCAGTTTCACTTTTTTTTTTTTTTTTGGAAGAGAGTCTCACTCTGTCGCCCAGGCTAGAGTGAAGCAGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCTAGTGCAAGCGATTCTCAGGTGTCAGCCTCCCAAGCACCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTGGAGCTCCTGACCTCAGATGATCCACTTGCCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGTTTCACTTATTGACAGCTCATCCCCTTTGGN
|
pathogenic
| 6,262 |
Variant at chromosome 1, position 27550993, gene AHDC1 (AT-hook DNA binding motif containing 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['AHDC1-related_disorder', 'AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome']
|
GTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGAAGCTGTACTGTAGGTCGCCGGGTGGCGGTGCAGGCGGGCGGCTCAGTCGGAGCCCACCACAGTCCAGGTGTACACCACTGTGCTGCAGGTCCTGGGAGAGGCGTGTCAGGTCCTTCATGATGTCAATCAGCTGCACCACTGGTCGCAGGTTCACCCGCCCGTTGTCCCAGCAGCGTCGGGAGCTGCTGCCGTCTCCGACCGGTGTGGGGCAGCGGGCCTGTGAGACAGGACGGGCTGCCCGTGGGGGCAGCGGGTCGTCCCCCTTGGCAAGGACTGGTGGGCGCCGGGTGCTGGGGTCCCGGCGTGGGGGTGGGCGTGGGTTCTCGGAGAAGGCGTGGGTGGAGAAGGCCTTGTCAGGTGGGCTGGCAGGGGGCCGGGTGGGAAGCAGGGGCCGGGGGGTGGGGGGGCCGCCGGGGTAGTACTTGGGTTCCCGGAGGTAGTCAGGAGAGCTGCACACGGCACTGGAAGTCACCACCAGGCCCTGGGGCTTCACACGCATCCTGACCTTGTCCTCCGCAGGCCGCCGGGCGGGGCCGGGGCTGACATGAGGGTGCGAGAAGCCGGGACCAGGACCTGCCAGGCAGGAAGAGCAGGAGGTCCCTTACTGAACACCTACATCCTCATCAGCTTCCCATATCCTTGATGAGCTCCTGGACCCCTCCCTCCTGAGGTCTCATCTCCTTACCAAGCTCCCCTCCCCACCCCAAGCCCCATCCCCTTGCTGACTCCCAGCCTTTCTCAAACCACCATGTGTATAGTGAGCCCCTCATGGGCCCAGTTTCACTTTTTTTTTTTTTTTTGGAAGAGAGTCTCACTCTGTCGCCCAGGCTAGAGTGAAGCAGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCTAGTGCAAGCGATTCTCAGGTGTCAGCCTCCCAAGCACCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTGGAGCTCCTGACCTCAGATGATCCACTTGCCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGTTTCACTTATTGACAGCTCATCCCCTTTGGGAATCTGGCTATGCACTCAGGAAGAACAGGACCCCTGCCTTTGAGAGGGAAGCACATCAGCAGGGTGATCAAACTTAAGGAGAAGGCCAGGAAGTTCTAACAAGGGCACGGCCTCCCTCCTTCTTACCCCGAAAGGGCTCCAGGAGAACCCCCACCACTCACCCTCGGCTCTGCCGCCTGGGCTGTCACACTGGAGATCTCTGTGGGCAACAAGACGGGCAATAGATCTGAATTCCCCAAATGGTCTGGTGGCCACAGCTCAACCCCTGCCCACCGGCCCAGCCTCCTCCAGGTACCACCCCCGGCTCCCT
|
GTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGGGCGGGGGCACCAGCTTGGGGAAGGTCTCGGCTGCCCGGCAGTCTGAAGCGGCTGGAGTTAGCCCATAGCTTGCTGCTCGTCCTGGTGGGAAGGTCTGGCGCGCGGACAGGACAGGCTGAAAGGAGGGGTCCGCCCCAGCCCCGCTGCTACCCACTGCCACTGGGCTGGCCTTGGCTCCCCGGCTAGGGAAGGTGGCCAGGCCCCGCTGGGCAGGCAGGGCACTGGTGGGTGGCCCTGCATAGGTGCCCGATGCCTTCCGGGACTCTGGGCGAGAGGCTGAGAGGGCAAAGTCCAAGAGATCGGAGGAGTCATCCGAATCGAGCAGCGAGCGAAAGTAGCCGGTGAAGAGGTTTTGGCGCTCCTGGCTGAGCTCGGTCTGGCCTGAGGGTGCACCCGTGCTGTAGTAGCTGCCACGGCCTGAGGCTCCACTCTCCAGCCCAGTGGAGGCAAAGGCCCGGGCCTCGGTCCCCTGAAACCCACAGTTTCGGCCAGCTTGTCCGCCTGGGTGCCCATGGTGAGGGGCCCAGCCACCACCCTTATCCCCGGCCCACTCAGCACCTGCCTCCCCAAAGCCTGGGCCACTGGGCACCTGCTCTGGGAACAGAGTCCCATTCTTCCGGGACCGTCTCTTGCGCTTTGGCTTCCCAGTCACAGCGTCTACCTCCCCCCGGCCCCGTTTGCGTGGGTGCCCCAACTCAGTAAGGCCCGGGCCCCCGACCCCAGCGGCTGCCACGGCCACCACCTTCTTTTTCTTGCCGATGCCCTCAAAGAAGTCACTGAAGGAGCATCGGGCTGACTTGGCCGCATGGCCCCCACCCCGGCCACCAAAACCGCCTGCTTTGCCCCCACGCCGCCGGAAGCCCTGCACACGATGCAGGAAGTGGGAGATGCTCTGGGTGTCGGGGGCCTGGTGCACCGACTCCGGCTCACTGGGTGTCCAGCAGCGGGGCGGTGAGCACCGTCCAGCGCACTGGCTCTGGCGGTTCAGGAAGGCCAGCTTGGCCAGGACGTCTGAGTACTCGGCCTTGCTGTCGTTGGCGTCTGCTGCATAGGATGGCTGGGGAGATGCCAGCTTCTGCTTCCGCCGCCGTCGTTTTTTTACCTCTGGCATGGCCATGGTGGCCGCTGCCACAGTGGCTGCCTCGGCCGCCACCACAGCTGGCTCCTTGGGCTTGCCGGGACCCAGCAGCAGGTTCTTAGGAGGGCGGCCGCGCTTACGTTTGAGAATAATGGGCATCTCACCGGGTGGGAAGACCACTACCACGTTCCGCCCATTGTTCTTCATCTTCAGCAGCGGGGTGGGCTCAGCCGACACGCGCAGGCCCAGCTCCTTGCCCTCCACGCTCAGGCTGCTGCTCAAGGAAGACACTTTGTATGTGGTCTTGTTCCGCCGCCCCAGCGATACGGGGATCTTGGCCATCTTCACCACCATGCGCCGCACGCCCCGGCACTTGCCTTTGCGGGTAGAGACCACTGGGGTCTGGGAAGATTCCGGCTTCAACTCTGGGACTGAGACCGGGCCTGGGCCTGGCAGGGCAGGGGGTGGAGGAGGCGGTGGTGGTGGGGGTTCGGCCAGGGCAGCCACCAGCCCCGTGGGCATAGGCAGGGGCAGTAGGCGGCCCTCGGGTCCGGCGTCTGCCTTGCGTCCCCGTCCGGCTTTCCGCCGGCGACACAGGATCTTTGGCCTATCAGTGCGCCGCAAGGCGTACTTGGGGTGACCCTCAGGCCCGGGGGGCCGTGCGGTGAGCACAAGTCCAGGCGCAAGGGCTCGGCCAGTGGGCAGTGCCCCAGGGGCTGCTGGGGCTCCAGACGGCGACCTGGGACGTCAAGCAGCTTGGGCAGGGGGTCGAGTGCCTGGGGGTCAAGCAGCTGCGACTCCAAGGAGTCAGGCAGGGTGTCCAGGGCCTGGAGAGCCAGGCCCGGCAGCCCCAGAGGATCAGCAAGAGGTTGCAGGGGTGGCAGCTCCAGAGCTTCCCCGAGCGGCTCTAGTGCCTGCGGGTCCAGGAAGCGGGGCTGGGGGTCCAGGAGCTGAGGCTCCGGCTCGGGCGATGGTGGCTCGAGGGCCTGGGCCTCTAGCAGCTGGGCCTCTGGGCAAGTGAGGGAGGCCAGCTCACTAAGGATGTCGGCGTCAGCAAGTTCTGAGTAATCAGTGCTGTCTGGCTCAGGCTCTGGGGGCAGACCCGTGGCCGCAGCCGTGGCTCCGGGACTATGGCCTTGGCCAGGCTGGGGACTGTCCCTAGGCTCAGGCTCAGGCTCGTAGAGGGGATGGCTGGGCCGCTCCGACTTGGCGTGTGGGGTGGCCCGCTCCTCAGGGCTACGGATGCTGTTGGCCAAACTGGGTGAGGAGAAGAAGCTGTACTGTAGGTCGCCGGGTGGCGGTGCAGGCGGGCGGCTCAGTCGGAGCCCACCACAGTCCAGGTGTACACCACTGTGCTGCAGGTCCTGGGAGAGGCGTGTCAGGTCCTTCATGATGTCAATCAGCTGCACCACTGGTCGCAGGTTCACCCGCCCGTTGTCCCAGCAGCGTCGGGAGCTGCTGCCGTCTCCGACCGGTGTGGGGCAGCGGGCCTGTGAGACAGGACGGGCTGCCCGTGGGGGCAGCGGGTCGTCCCCCTTGGCAAGGACTGGTGGGCGCCGGGTGCTGGGGTCCCGGCGTGGGGGTGGGCGTGGGTTCTCGGAGAAGGCGTGGGTGGAGAAGGCCTTGTCAGGTGGGCTGGCAGGGGGCCGGGTGGGAAGCAGGGGCCGGGGGGTGGGGGGGCCGCCGGGGTAGTACTTGGGTTCCCGGAGGTAGTCAGGAGAGCTGCACACGGCACTGGAAGTCACCACCAGGCCCTGGGGCTTCACACGCATCCTGACCTTGTCCTCCGCAGGCCGCCGGGCGGGGCCGGGGCTGACATGAGGGTGCGAGAAGCCGGGACCAGGACCTGCCAGGCAGGAAGAGCAGGAGGTCCCTTACTGAACACCTACATCCTCATCAGCTTCCCATATCCTTGATGAGCTCCTGGACCCCTCCCTCCTGAGGTCTCATCTCCTTACCAAGCTCCCCTCCCCACCCCAAGCCCCATCCCCTTGCTGACTCCCAGCCTTTCTCAAACCACCATGTGTATAGTGAGCCCCTCATGGGCCCAGTTTCACTTTTTTTTTTTTTTTTGGAAGAGAGTCTCACTCTGTCGCCCAGGCTAGAGTGAAGCAGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCTAGTGCAAGCGATTCTCAGGTGTCAGCCTCCCAAGCACCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTGGAGCTCCTGACCTCAGATGATCCACTTGCCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGTTTCACTTATTGACAGCTCATCCCCTTTGGGAATCTGGCTATGCACTCAGGAAGAACAGGACCCCTGCCTTTGAGAGGGAAGCACATCAGCAGGGTGATCAAACTTAAGGAGAAGGCCAGGAAGTTCTAACAAGGGCACGGCCTCCCTCCTTCTTACCCCGAAAGGGCTCCAGGAGAACCCCCACCACTCACCCTCGGCTCTGCCGCCTGGGCTGTCACACTGGAGATCTCTGTGGGCAACAAGACGGGCAATAGATCTGAATTCCCCAAATGGTCTGGTGGCCACAGCTCAACCCCTGCCCACCGGCCCAGCCTCCTCCAGGTACCACCCCCGGCTCCCTN
|
pathogenic
| 6,270 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 29200513, gene MECR (mitochondrial trans-2-enoyl-CoA reductase). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Childhood_Onset_Dystonias', 'Dystonia,_childhood-onset,_with_optic_atrophy_and_basal_ganglia_abnormalities', 'Mitochondrial_disease', 'Optic_atrophy', 'Optic_atrophy_16']
|
TCCCCCTGCAATGACATTGGGATTGAGGTCTGCCGCAGGGGTTGTCTGTCAGGTATAGGGCTGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCATGAGCCACTGCGCCCGGCCTGGGCCTCATTGTTTAAAAGTATAAAACAGAGGTTAGAACTGCACCCCCTGTCTAGGTGGTTGTGGGAAGGGTAAGTCAAGCGCTGCACACAGTCTGGTGCATGGTGAATACTCACCACAGTGCTCTGGCCACGTGACTCACCTGCTCATCAAGCCTGTGAATTCTCAGAGGGCACATCAGTGTCGCAGCCCTCTCTGTACCTGGTAGCTAGTAAGTGCTCAGCAAGTATGCGCTAGCTGAATCCGTACTATTGAGGGGGTTCCTGCTTTAATTAGGAAGTGTCTTTTTACACACACTCTAGCTCAAGAAGCTTTTATTTTTATTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCCCACCGCAAGCTCTGCCTCCGGGGTTCACGCCATTCTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGACACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCGCCCGGCCTAGAAGCTTATATTAAGGGAAAGAAGAATGGAAGGACATGCATTAATATTGTCAACAGGGCTTATCCCCCTTGGTAGTGGGGTGATAGGTAACTTTTTTTTTTCTTTTTTGAGATGGAATCTCCCTTTGTCACCCAGGCTGGAGTAGAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAATGATTCTCGTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACCTGGCTAGTCTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGGCCTCAAGTGATCTGCCTGTCTTGTTGGGATTACAAGCATGAACCACTATGCCTGGCCAGGTAACTTAAAAAAAAAATTAATTTTTTTTTTTGTAGTGATGGGGTCTCACTATGTTACCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATGCTTCCTCCTTGGCCTCCCAAATTACTGGGATTATAGGCATGAGCCACAGTGCCCAGCCAACAGGAAACTTTTATGCTTAAGTTTTCCTTTGCACTTTTACATGTTTTCAAAATGTTTTGTAATAAGCATAATGTTACCTTTAAAATTAGAATCTATTTTAAAAGCTAATACAAATTTTGAAAGGTTAAATAAGTTAGGACTAAGTGACTTTTTCAGACATCCCTAGGTTATAAATCCTTGACTATTCCTCTATGGCAGGCAGCTTAGCAGTCTACTTCTGGGGTCCCTTGGAAAAATAAAGCTGGATAGGCCAAAATTTTGGTCATCTGCAAAGGGGAAGGCTGAGAAACCAGTGCCCAAATAGCTGGATGACTTTGGTCCTAGTTTCCACTCAACATTGTGCTGACCTGGACTTGGCTCGAACTGGCGATGGGACTCAGTCACTTGATGGTCCTCCCAGCTAAAGACCTGGAGAGCTCTGGCGAGCTGGACCTGCAGGCCCAAGGGACTTACGCTAACTGCCGCAGCAGCTCTGTGGAGCTTTTCCCACCAACACAGTTGAGAGCAAGCCGTGGCTGGGGCATGTCCTGGAAAACAACAAAAGTGCAGTGAGGGAGCATCCCCGCTCTACATATGGGGTCTGAAGCTTGCCCAAGTGCTGTGTTAAAAGGAGGGAGTAAATGAGATGTTTATGCCTTTGTTTGCGTGCACGTACTTATGTATATGTGTGTGTGTTTATGCCTTTGAACTCACCTTTTTCTCTGCTTAGGAAGTGTCTTTTCTTTCTTTTTTCTTTTTCTTTCTAAGACAGGGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCTACCTTACCCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGATGAGTATCATGATGACCAGATAATTAAAAAAAAATGTTTTTTTGTAGAGACAGAGGTCTCACTATGTTGCTCAGGCTAGTCTCAAACTCTCAGACTCAAGCAATCCGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGTCACCTCATCCAGCCAAGAAGGGCCTTTTCTGTAGCAACTTAATCCTGTTGTCCATTTTAGGACCTGGCAGAACTCATCTTCTCTGGGAAAGAATAGGCAAAGGGCATCTGCATGCAGTTTGGTGGGTTTCAGCTCCCTGTGTGCCCCCCTTTTCAGTTCTTTGACTCAGCTGATATTATATATGCTGATCTACTGCTTCAGAAATGTTCGCAAGAAGCGCATGCTCTTGAGTGTGTGTCTTTGGTTCCTCCAGATGGTTCAGTGAAAAGGGGCTGAGGGTCTGGTCACTTACTAGGCATGTTGTGGGGTGGAGGTTCTGGAAGGTTAAGAGGCTTTGAGTTCGGAGAGACTGAGGCCAGCTCTGACTCTCTGGAGCCCTTATAAACTATATGATTTTGGTTAAGCATTTCCTCTTTTCTGAGTCTTAGTTTCCTAATCTGTAAAACAGATAACAGTTCCTTTGAAAAGCTTTTGTGGAAATCATCAGATAAAATGTAAGGCAGGTGGTTGGGAAAGGTTACTTCTTTTCTTTCTCTTTCTGTGTCTCTGTTTCCTCAGGTCCTCTCCTGCCAGTTCTAAGAGTCACACATGTGGGCTGATGCGGCCCACCACAAACGTTTAAACTGCAAGTCATACTGGGTTTCCTAAACTCTGTTTCTCATGCCTCCCTCCCAGCATCTGGGCACTTAATGCGTGCTGCCTGCCGCCTGGCTAGGGGGAATGGGCTTTAACCAACCAAGAGGCAAAGGGAGGTTTCCAGAGAGGAACAATGGGGCCAGTCCCCAGTTTCTCTAATGCATGTCAACTTTCTTCAGGGAGATGTGCGTGGACTGGAGGGGCAATGTCCCTCTTCCTAGGTACCTTAAAGAAGTTTTTCATTTCGGGCCTTCTTAGCTCCTCTTCTGTGATGACATGCTCAGCCCCCAGACTCTTCAGTCTGTCACTCAGCTTCTGGATATCAGGTCTGGAAACCAAACATAGGTCCCTGGTCACATCTGCCAGCTTTTTCCACCAAAGCCCCCCAGGACCTCTCTGCCACAGCTGGGAGAACCCGTGCTTCTTTTTGCAGGAAGCTGGGATTAGGTTTAAGCCAGGCTTGAGCAGGGACCAGCCACCTAATTTCATGCAGCTTCAATAGCTCTTGGCTGTCTCCTCACTGGCAACAGAGTGAGACTGGGTGGTTTTCACAGGCCCTGACAGCTCAATAGTGTTAGAAGCCATCTGTGCCCAGGGAGAAGTCACTTAACTTCCTGATTTCTTCTACTGAAAGGACAAACTCCACTTCCCCCCTCTTTTCAAGTGGTTCTTCAGAGTGTTGGACATACACAGTCTAGACCAGGAGTGGCTCTGGGTCTCTTTGGTTAAGGCAAATGGAATTATTTTTGCGAGTACAACTGAGGAACTGAAGCTGGTGTCGATTATACTAAGAGTGGGCTTCCATGACAGCCACAGCCACATTCATGGACAGTGAGGCCTAGA
|
TCCCCCTGCAATGACATTGGGATTGAGGTCTGCCGCAGGGGTTGTCTGTCAGGTATAGGGCTGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGATGGTCTCGAATTTTTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTAGGTTTACAGGCATGAGCCACTGCGCCCGGCCTGGGCCTCATTGTTTAAAAGTATAAAACAGAGGTTAGAACTGCACCCCCTGTCTAGGTGGTTGTGGGAAGGGTAAGTCAAGCGCTGCACACAGTCTGGTGCATGGTGAATACTCACCACAGTGCTCTGGCCACGTGACTCACCTGCTCATCAAGCCTGTGAATTCTCAGAGGGCACATCAGTGTCGCAGCCCTCTCTGTACCTGGTAGCTAGTAAGTGCTCAGCAAGTATGCGCTAGCTGAATCCGTACTATTGAGGGGGTTCCTGCTTTAATTAGGAAGTGTCTTTTTACACACACTCTAGCTCAAGAAGCTTTTATTTTTATTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCCCACCGCAAGCTCTGCCTCCGGGGTTCACGCCATTCTCCTGCCTCAGACTCCTGAGCAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGACACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCGCCCGGCCTAGAAGCTTATATTAAGGGAAAGAAGAATGGAAGGACATGCATTAATATTGTCAACAGGGCTTATCCCCCTTGGTAGTGGGGTGATAGGTAACTTTTTTTTTTCTTTTTTGAGATGGAATCTCCCTTTGTCACCCAGGCTGGAGTAGAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAATGATTCTCGTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACCTGGCTAGTCTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGGCCTCAAGTGATCTGCCTGTCTTGTTGGGATTACAAGCATGAACCACTATGCCTGGCCAGGTAACTTAAAAAAAAAATTAATTTTTTTTTTTGTAGTGATGGGGTCTCACTATGTTACCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATGCTTCCTCCTTGGCCTCCCAAATTACTGGGATTATAGGCATGAGCCACAGTGCCCAGCCAACAGGAAACTTTTATGCTTAAGTTTTCCTTTGCACTTTTACATGTTTTCAAAATGTTTTGTAATAAGCATAATGTTACCTTTAAAATTAGAATCTATTTTAAAAGCTAATACAAATTTTGAAAGGTTAAATAAGTTAGGACTAAGTGACTTTTTCAGACATCCCTAGGTTATAAATCCTTGACTATTCCTCTATGGCAGGCAGCTTAGCAGTCTACTTCTGGGGTCCCTTGGAAAAATAAAGCTGGATAGGCCAAAATTTTGGTCATCTGCAAAGGGGAAGGCTGAGAAACCAGTGCCCAAATAGCTGGATGACTTTGGTCCTAGTTTCCACTCAACATTGTGCTGACCTGGACTTGGCTCGAACTGGCGATGGGACTCAGTCACTTGATGGTCCTCCCAGCTAAAGACCTGGAGAGCTCTGGCGAGCTGGACCTGCAGGCCCAAGGGACTTAACGCTAACTGCCGCAGCAGCTCTGTGGAGCTTTTCCCACCAACACAGTTGAGAGCAAGCCGTGGCTGGGGCATGTCCTGGAAAACAACAAAAGTGCAGTGAGGGAGCATCCCCGCTCTACATATGGGGTCTGAAGCTTGCCCAAGTGCTGTGTTAAAAGGAGGGAGTAAATGAGATGTTTATGCCTTTGTTTGCGTGCACGTACTTATGTATATGTGTGTGTGTTTATGCCTTTGAACTCACCTTTTTCTCTGCTTAGGAAGTGTCTTTTCTTTCTTTTTTCTTTTTCTTTCTAAGACAGGGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCTACCTTACCCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGATGAGTATCATGATGACCAGATAATTAAAAAAAAATGTTTTTTTGTAGAGACAGAGGTCTCACTATGTTGCTCAGGCTAGTCTCAAACTCTCAGACTCAAGCAATCCGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGTCACCTCATCCAGCCAAGAAGGGCCTTTTCTGTAGCAACTTAATCCTGTTGTCCATTTTAGGACCTGGCAGAACTCATCTTCTCTGGGAAAGAATAGGCAAAGGGCATCTGCATGCAGTTTGGTGGGTTTCAGCTCCCTGTGTGCCCCCCTTTTCAGTTCTTTGACTCAGCTGATATTATATATGCTGATCTACTGCTTCAGAAATGTTCGCAAGAAGCGCATGCTCTTGAGTGTGTGTCTTTGGTTCCTCCAGATGGTTCAGTGAAAAGGGGCTGAGGGTCTGGTCACTTACTAGGCATGTTGTGGGGTGGAGGTTCTGGAAGGTTAAGAGGCTTTGAGTTCGGAGAGACTGAGGCCAGCTCTGACTCTCTGGAGCCCTTATAAACTATATGATTTTGGTTAAGCATTTCCTCTTTTCTGAGTCTTAGTTTCCTAATCTGTAAAACAGATAACAGTTCCTTTGAAAAGCTTTTGTGGAAATCATCAGATAAAATGTAAGGCAGGTGGTTGGGAAAGGTTACTTCTTTTCTTTCTCTTTCTGTGTCTCTGTTTCCTCAGGTCCTCTCCTGCCAGTTCTAAGAGTCACACATGTGGGCTGATGCGGCCCACCACAAACGTTTAAACTGCAAGTCATACTGGGTTTCCTAAACTCTGTTTCTCATGCCTCCCTCCCAGCATCTGGGCACTTAATGCGTGCTGCCTGCCGCCTGGCTAGGGGGAATGGGCTTTAACCAACCAAGAGGCAAAGGGAGGTTTCCAGAGAGGAACAATGGGGCCAGTCCCCAGTTTCTCTAATGCATGTCAACTTTCTTCAGGGAGATGTGCGTGGACTGGAGGGGCAATGTCCCTCTTCCTAGGTACCTTAAAGAAGTTTTTCATTTCGGGCCTTCTTAGCTCCTCTTCTGTGATGACATGCTCAGCCCCCAGACTCTTCAGTCTGTCACTCAGCTTCTGGATATCAGGTCTGGAAACCAAACATAGGTCCCTGGTCACATCTGCCAGCTTTTTCCACCAAAGCCCCCCAGGACCTCTCTGCCACAGCTGGGAGAACCCGTGCTTCTTTTTGCAGGAAGCTGGGATTAGGTTTAAGCCAGGCTTGAGCAGGGACCAGCCACCTAATTTCATGCAGCTTCAATAGCTCTTGGCTGTCTCCTCACTGGCAACAGAGTGAGACTGGGTGGTTTTCACAGGCCCTGACAGCTCAATAGTGTTAGAAGCCATCTGTGCCCAGGGAGAAGTCACTTAACTTCCTGATTTCTTCTACTGAAAGGACAAACTCCACTTCCCCCCTCTTTTCAAGTGGTTCTTCAGAGTGTTGGACATACACAGTCTAGACCAGGAGTGGCTCTGGGTCTCTTTGGTTAAGGCAAATGGAATTATTTTTGCGAGTACAACTGAGGAACTGAAGCTGGTGTCGATTATACTAAGAGTGGGCTTCCATGACAGCCACAGCCACATTCATGGACAGTGAGGCCTAG
|
pathogenic
| 6,343 |
Chromosome 1, position 29216611, gene MECR (mitochondrial trans-2-enoyl-CoA reductase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Childhood_Onset_Dystonias', 'Dystonia,_childhood-onset,_with_optic_atrophy_and_basal_ganglia_abnormalities', 'Optic_atrophy']
|
TGTTGGCCAGGCTAGTCTTGAACTCCTGATCTCAGGTGATCCACCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCCAACTTCTTTTTTTAAAGCAAGTTTGAGCTGGGTCGCTGTAAGTTACAACCCAGAAGATCATAACACTGGTGTGTAATGGGAACCCAGGAGAAAGAATCCAGTGGGCACTCTCATTTTGCTGTTTGACTTTGGGCCAGGGCTTTACTTCTCAAGCTTCAATTTATGTCCAATGGATGGATAATACCTGCCCTGCTTCCCTCTTGTAGCTGCTGTGAGGATCAATAACAGACGTGCCTTGAAAACTGTTAAGTGCTAAAAACAAAACTCACCTATGACTCCTTATAATATATCAAACAAAATCCTACTCATTAGCTTGGCTTGGGCAGGGCCTTACCCCATGTGGACACAAGCTACCTTTTTAAAAAAAAATAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCATAGCTCACTGTAGCCTAGAACTCCTGGGCTCACGTGATTGAACCTGCCTTTCTGGCCTTCTTTCTCACTCGTGCAATCCTCTCCCATATGCAAACCCTCTGCTGAGGCTACAATGGATTTTCCACCATTTCCCAATCTCACCTTTGTGTCTTTCCTCATTTTACATCCTCCACATGAAGTGAATTTTGGCTCATCTCCATGTATAAACAAAATTCAGACTCGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGTGGTGGGTCACCTGAGGTTAGGAGTTTGAGACCAGCCTGGTCAACATGATAAAACCCCCTCTTTACTAAAAATACAAAAATTTGTCGGGCGTGATGGTGTACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCTGCAGTAAGCCGAGATCGCGTCACTGCACTCCAGCACAGGTGACAAAGTGAGACCCTGTCTCAAAAAAAAACAAAACAAGGCCAAGCGTGGTGGCTCAGGCCTGCAGTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCCCTGAGGTCAGGAGTTTGAGACCCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAACAATACAAAAATTAGCCGGGCGTGGTGGTAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGGAGGCGGAGGTTTTGGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCGTCTCAAAATAAATAAATAAATAAAAAAAATAAACCCTGCATTACCCAGGTACACTCGGCCAATCAGTGGATGCCGACAGAGTGGGTGAAATAGGATCTGGAAGAACGAATAGGCAGCTGACACCTGGAGAAACTCACCTAAACCAGCATTTGCTGGAATCACCCAGTCTCCTGGCTTCAGCCCGGTCACATTGCTGCCCACCGCTACCACCTGTGCAACACCTTCGTTCCCTCCAACAGCAGGCAGTTCAGGAAGGAATCCGTAGTTTCCTGAGGGAGAAGAGCATTAAAGGGTCAACCAGTGATGTTTGGGCAGTGAAAGAGCATGGACTTGAGTCCACGCCATCCTAGGCCTGATCTGGGCTCTGCTTTGGACTGTCTGCCTAACCAACCTCTGAGCCTTAGCTTGCTTGTCTGTATAGGGGGACAATATTCTTTAGTGTTCATGGTTATCATGAAAATCAGGTAACATATGAAATGAAACCAGCATGTCGCAGGCACTTCACAATGCTTAGTTTACTCCCCACTGCAATCTTCTCAAAAAGCCACACATTCCAGAAAAGGGAGGCCAGACAGGGCTGACACAGCCTGCAGACGGCTCATCTGGAGAACAGCTGCTGCTAATCACAGGCATTTCACACCCACACCTGAGGAGGAATGAAAATGAGGTGGCAGCTGAACAAAAAAGCCAATTAACATAAGCCACAGAAACCAAGGTTACCTTGGATCATATTTATGTCAGATGGATTGATAGGGGCCGCCAGCATCTTCACACGGACATCTGATCCTCTCACAGCAGCTAGCTCCAGGTTCTTGAGTCTAAGCACAAAGCCAAACGGAGATGTTCATGTCATCCAGGCTAGAATGGGTGTTTCGCTCAAATCATCTCCTCAAAGTAGGTCAGGCAACATTTCTGAGCTGCCATGTGTGCCCAGGAATTACGGTTCTGTTATAAAAGAGAGGTACCATAAGAAATCAACACAGGAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGACAGGCGGATAACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACTAAAATACAAAAATTAGCTGGGCGTGGTGGTCGGCGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGAAGAATTGCTTCAACGTGGGAGGCAGAGGTTGTAGTGAGCTGAGATTGTGCCATCCAGCCTGGGTGACAAAGCAAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATCAACATAGGATAGAGGTTGACTCTCATTAACTGCAAGTGGAAAACCCACAGTGTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGACACAATCTCGGCTCACTAAAAGCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAGAGGTGCCTGCCACCACGCCCGGCTAATTTTATTTATTTATTTTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGTCTTTCAACCCCACTGCCCACTCTGGGACAGGAAACCTCTGCTGGCCTAGATGAGCCCTGTGTTTTCCAAAACTCGCTTAGTTATAAGAATTACCTGGTATGCTCATGGATATAAATTATCAGGCCCACCTCTGATCTACTAAGCCAGAATCTCCAGATGAGGGCACCCCAAGTAGTTCTTACCAACCGGGGTATCTTGGAAATCCCAGGCTAGCTGACATGTCCTCCACATGTTTGATTTTATTCTTGGTCCTAACATATACAGGGGAGAGGAGATATTTCTGTTAGTTGCAGAGTGTGGGCGTAATGGGGAGATGGCCTATGTAGTTCACAAAGAACTCCCTGGATGGCTGTGATTCACTCTGAGTGATGTCCCTTCTGGAGGAGGATTCTTGTCTGGCAGAAAAGACCCTGGGTGGAGGGCTGAAGGTCCTGGGTATAAAGCTCCACTGCAGGATGCCTGGGTCACCATGGGCAAGTTTCTTCTCTGCTCTAGGCTTCTGTTTCTCCATTTGTAAAACAGAGTTGCAGTGGTGGTTTGGACCTGATCCCCTCTGGAAGCCTCTTCCATGTTAAGTGGTAAGTCCCTCTGCTCATGGTGGGTCTTGGACACCATGGTGGCAACATCTTTATCCCAGTGAAACTTTGCTTAATGGGCAAAACCTGCAAGAAGGCTTTTGAGGGAGGCCAAGTGGCAATGTGCATGTGTTACTTTTGTTATTTCAAAAAAGCTTTTTAAAAAAGGAGCTCTGCCAACCAGATACTACTGGTCAGTGTACTGGACCCATGGGGCCTGTGACTTTTTAATCACCAGTGACTGCTTTCTTTCTTTCTCCACACCCCTTAGATTTCATGTTTGCAATGCTTCCCTCTGCCCAAATGCATTTATTAAGTAGTAATTCATTTTTACTTACCCAAGACACATATAACTGCCAACAAGGTTTTTAGCATTAGGCAACAGTATCACCCAACTAAGCTGATGTAATTCCACCTACTTCCTGCAGAAATCTGACCTTTTAATTATACTGGAGGCTTGATCTTGTGGTAAAAGTGTGATTTTGAAGAAATGTTTTATAATAGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACGAGG
|
TGTTGGCCAGGCTAGTCTTGAACTCCTGATCTCAGGTGATCCACCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCCAACTTCTTTTTTTAAAGCAAGTTTGAGCTGGGTCGCTGTAAGTTACAACCCAGAAGATCATAACACTGGTGTGTAATGGGAACCCAGGAGAAAGAATCCAGTGGGCACTCTCATTTTGCTGTTTGACTTTGGGCCAGGGCTTTACTTCTCAAGCTTCAATTTATGTCCAATGGATGGATAATACCTGCCCTGCTTCCCTCTTGTAGCTGCTGTGAGGATCAATAACAGACGTGCCTTGAAAACTGTTAAGTGCTAAAAACAAAACTCACCTATGACTCCTTATAATATATCAAACAAAATCCTACTCATTAGCTTGGCTTGGGCAGGGCCTTACCCCATGTGGACACAAGCTACCTTTTTAAAAAAAAATAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCATAGCTCACTGTAGCCTAGAACTCCTGGGCTCACGTGATTGAACCTGCCTTTCTGGCCTTCTTTCTCACTCGTGCAATCCTCTCCCATATGCAAACCCTCTGCTGAGGCTACAATGGATTTTCCACCATTTCCCAATCTCACCTTTGTGTCTTTCCTCATTTTACATCCTCCACATGAAGTGAATTTTGGCTCATCTCCATGTATAAACAAAATTCAGACTCGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGTGGTGGGTCACCTGAGGTTAGGAGTTTGAGACCAGCCTGGTCAACATGATAAAACCCCCTCTTTACTAAAAATACAAAAATTTGTCGGGCGTGATGGTGTACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCTGCAGTAAGCCGAGATCGCGTCACTGCACTCCAGCACAGGTGACAAAGTGAGACCCTGTCTCAAAAAAAAACAAAACAAGGCCAAGCGTGGTGGCTCAGGCCTGCAGTCCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCCCTGAGGTCAGGAGTTTGAGACCCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAACAATACAAAAATTAGCCGGGCGTGGTGGTAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGGGAGGCGGAGGTTTTGGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCGTCTCAAAATAAATAAATAAATAAAAAAAATAAACCCTGCATTACCCAGGTACACTCGGCCAATCAGTGGATGCCGACAGAGTGGGTGAAATAGGATCTGGAAGAACGAATAGGCAGCTGACACCTGGAGAAACTCACCTAAACCAGCATTTGCTGGAATCACCCAGTCTCCTGGCTTCAGCCCGGTCACATTGCTGCCCACCGCTACCACCTGTGCAACACCTTCGTTCCCTCCAACAGCAGGCAGTTCAGGAAGGAATCCGTAGTTTCCTGAGGGAGAAGAGCATTAAAGGGTCAACCAGTGATGTTTGGGCAGTGAAAGAGCATGGACTTGAGTCCACGCCATCCTAGGCCTGATCTGGGCTCTGCTTTGGACTGTCTGCCTAACCAACCTCTGAGCCTTAGCTTGCTTGTCTGTATAGGGGGACAATATTCTTTAGTGTTCATGGTTATCATGAAAATCAGGTAACATATGAAATGAAACCAGCATGTCGCAGGCACTTCACAATGCTTAGTTTACTCCCCACTGCAATCTTCTCAAAAAGCCACACATTCCAGAAAAGGGAGGCCAGACAGGGCTGACACAGCCTGCAGACGGCTCATCTGGAGAACAGCTGCTGCTAATCACAGGCATTTCACACCCACACCTGAGGAGGAATGAAAATGAGGTGGCAGCTGAACAAAAAAGCCAATTAACATAAGCCACAGAAACCAAGGTTACCTTGGATCATATTTATGTCAGATGGATAGGGGCCGCCAGCATCTTCACACGGACATCTGATCCTCTCACAGCAGCTAGCTCCAGGTTCTTGAGTCTAAGCACAAAGCCAAACGGAGATGTTCATGTCATCCAGGCTAGAATGGGTGTTTCGCTCAAATCATCTCCTCAAAGTAGGTCAGGCAACATTTCTGAGCTGCCATGTGTGCCCAGGAATTACGGTTCTGTTATAAAAGAGAGGTACCATAAGAAATCAACACAGGAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGACAGGCGGATAACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACTAAAATACAAAAATTAGCTGGGCGTGGTGGTCGGCGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGAAGAATTGCTTCAACGTGGGAGGCAGAGGTTGTAGTGAGCTGAGATTGTGCCATCCAGCCTGGGTGACAAAGCAAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATCAACATAGGATAGAGGTTGACTCTCATTAACTGCAAGTGGAAAACCCACAGTGTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGACACAATCTCGGCTCACTAAAAGCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAGAGGTGCCTGCCACCACGCCCGGCTAATTTTATTTATTTATTTTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGTCTTTCAACCCCACTGCCCACTCTGGGACAGGAAACCTCTGCTGGCCTAGATGAGCCCTGTGTTTTCCAAAACTCGCTTAGTTATAAGAATTACCTGGTATGCTCATGGATATAAATTATCAGGCCCACCTCTGATCTACTAAGCCAGAATCTCCAGATGAGGGCACCCCAAGTAGTTCTTACCAACCGGGGTATCTTGGAAATCCCAGGCTAGCTGACATGTCCTCCACATGTTTGATTTTATTCTTGGTCCTAACATATACAGGGGAGAGGAGATATTTCTGTTAGTTGCAGAGTGTGGGCGTAATGGGGAGATGGCCTATGTAGTTCACAAAGAACTCCCTGGATGGCTGTGATTCACTCTGAGTGATGTCCCTTCTGGAGGAGGATTCTTGTCTGGCAGAAAAGACCCTGGGTGGAGGGCTGAAGGTCCTGGGTATAAAGCTCCACTGCAGGATGCCTGGGTCACCATGGGCAAGTTTCTTCTCTGCTCTAGGCTTCTGTTTCTCCATTTGTAAAACAGAGTTGCAGTGGTGGTTTGGACCTGATCCCCTCTGGAAGCCTCTTCCATGTTAAGTGGTAAGTCCCTCTGCTCATGGTGGGTCTTGGACACCATGGTGGCAACATCTTTATCCCAGTGAAACTTTGCTTAATGGGCAAAACCTGCAAGAAGGCTTTTGAGGGAGGCCAAGTGGCAATGTGCATGTGTTACTTTTGTTATTTCAAAAAAGCTTTTTAAAAAAGGAGCTCTGCCAACCAGATACTACTGGTCAGTGTACTGGACCCATGGGGCCTGTGACTTTTTAATCACCAGTGACTGCTTTCTTTCTTTCTCCACACCCCTTAGATTTCATGTTTGCAATGCTTCCCTCTGCCCAAATGCATTTATTAAGTAGTAATTCATTTTTACTTACCCAAGACACATATAACTGCCAACAAGGTTTTTAGCATTAGGCAACAGTATCACCCAACTAAGCTGATGTAATTCCACCTACTTCCTGCAGAAATCTGACCTTTTAATTATACTGGAGGCTTGATCTTGTGGTAAAAGTGTGATTTTGAAGAAATGTTTTATAATAGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACGAGGNNNN
|
pathogenic
| 6,363 |
The genetic variant at chromosome 1, position 30936879, affecting gene PUM1 (pumilio RNA binding family member 1): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
CCCTAACAAGCCACACACACACATGTTGAACTCCATTTTTTATTGGATTTAACAAGAAGTGAAACGTTAATTACCTGCTTCTCTCCTTATGTCCCTTTTGCTGAAAAGGATACCACTTAGTAATGGAAGAGCTGAAAAACTAAGAGGGCTTCTCAGGACTCTCCCCGTCAACTCCCTCAGCCAACCAACTGCTAAGCCCTACCAATTCTAGCACCCTATTCTGTCCACTTCTCTTCAATCCCAAACCACCACCATCTGGTGCCTTGACGGCCTCCCATGTGGTCTCATCACTGCCTCCCTCCTCTAAACTACAAAGGCCACATGGCAGCCAGGACAATTATTTGAAATATACGTGTGATTTTGTCACCACACTCCTCCTCCACTGAACTTGTTTTACTTCTTCAGATACAACACGGTCTGGTCTCTGGCGTCCAAGTCTTCACACACCACGTTCCCTCTTCTGGAAAGGGTCATCACTCTATTAAGTATCACTCCGTTAGAGAGCCTCCTCTGTACCCACACGTTATAGAAGACACCCTGCCCATTCCTGGACAACCCTTTCCCCTGTATTTCTCCAGTGTCCCAGTAACTATCTGTGCACAGCACTATCACGTTTACCAATACAACCCTGCTGAGAATACGACCTGCTGTACAACAGGTGTTTAGCACTGAATGAATGAATGAATAGACATGTCTTAAGCTCCTACTTACCTCCAACATTCCCTCTGCCTTCACCAGCATCCTGAAAACTTACAACTTTAAGAACCTGGGACTCCCCCAGCCTTCAACTGCCACTGCCAACACCAGTGCAGTGGTTTGGATTGGTTTAGCTTGACTCAGGGGTGGTGGGTGTCTTGTCTGGCTCAGAACTTGAGTCCATTAACAAAGATTCTCATTACCGAACTTTGTTCTCAGTGAGGGCAAGTGGGTCATCATTGCCAGACAATGGCCAACCAACCCCTCAATTGAGAAGGGCTCAGTGAGTTCAGAGCCCAAAAGCTGCAGGCTCAGATGAGAAGCACCGGAGGCTGGAGGCACTGCCCAGCACAAACACAACTGTAGCACACCCTGCCTGTGGGTCTGTTTTGCCTCCTGGGCCCTGTGGTGTCTGCAGTGCTCACTGGACCCACGCCGTGACTTGTCAAGAAGCTGTGGGCCTGTTCAGGTGACTTCTCTTTCAGTTCCCCACTCACAGCACCTAAGCATTCTCATTTCTGTTCCTTCTTCCCTGTCTAACTCTTCTTTAGCCTTGCCTTCTCCTGCAAAGCCGGCCCTCAGGGACTCTGGGAAGGGTGAGGGGTCCTTCTCATGTCCTCACCACTGCTCACCACCATGGCTCTTCCCCACCAGAATGTACTCTGTGGGCAGGGATCAGGTGTTAGTCATCTCTGTGCTGATGAAGTCTGGCACAGAGTGGGCTTCAGGTCAATGTACCAGGCTATGCACCATGCTGGGCAGGCCTTTGTTCAATAGATGTTGGTGGGATGAAAGAACAGAAGGGAGGAGTGAGAAAAGGAAATGAGGCAAGTTGATTTGTTGGACTCATAAGCTGATTCTCTAGAGATCAGGGATGGAAATATTTCAAAAAATGTAGCTTAAGATTCTCATACCAGTGTGGCTATTGATAAGGGAGGGTTGGCAAATGTGTAAGGACAATGGTGACTCCACATAAAAGAAAAACAGAACACAGCATGGGACAGAGGTCAGTGACAAACTCTTCAAAAACAGCAGGGCACCCACCCTCCTTTGTGTTTCAGAAAGGAAGCCAAGGCCTTGCACACTTTCTCTGAGACCCTGCCCAGCCCGGCCTACCTTATGCATGACGATCTTCCGCTGGCCTGGCTCCGCCACGTCAATCATCTTCTGGACCACGTAGTTGGCATACTGGTCCTTCATCATGGTGTATAAGGCACTGTGGGGACCGTCGTTCATGGTGCACACCTCATCGATGAGCACAGCGCGCTCCGTACGTGAGGCGTGAGTAACACACTTCTCCACAACATTGCTGTAATGAGATAAAACCAGGGACAACTCTTACAAGAGAGGCCCCTGTTAGTGAGGCTGTGCTTGCCTAGCTTCTGCCCTGACCTCCGGACCAGCAGGGAGAGAGAGCTATTTAACATTTGAGGAAGATGAGTCGCCAACTGTCTGACTCTCTCAGTCTCTGACTCTCCACCTGTGCCATCTGTGGCATCCAATCGTAGGAAAGGGGGAACGTGGCATTAAATCAGATTTTTTCTCCAATCCACGGGGACTATAGAGGGTGATCAAATTATACACTGCCATACTACTGCATACTGACCACCCAGAGAGACCAGGTCTTCAAGGACATGGGACCCGGCCCTCTAACGGGTAAGGGTAAGGAGCCCAGGTAGGTGAGGAGACTTAAGCACAAGGTTCAGGACACTGGTTCACCACCAGCTGGTTATTATTTTAACACTTACCAAAATCTGTCCATTCTTTCCTCGCCTTTGTCAGTTCACCAAGGCCAGGAACAAACCTTACTTATGCCTATCTCCCTGCTGCCAAGCAGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATTGCTTGAATCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAGAGCAAGACTCCATCTCGAACTCCTGACCTCGTTATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCATGCCTGGCCTCAAATAAGTAATTTTTTTTTAAGTAAAAATAGAAATTTTAGAAAAGGAAAATATAACATCAGAAATAAAATTTACTGTATGGCTTTAATAGTGGATTAGAGATGACAGAAGAGTCAATGAACTTGAAAATAGATCAATAGAAGTAAACAAAAAAATACATCAGTGGCTTTCAGACATTTATTTTTTATTTTATTTTCATTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACTTCTGCCTCCCGGATTCAAATAATTCTTCTCCTGCCTCAGCCTCCCGAGCACCTGGGATTACAGATGTCCGCCATGACACCGGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGGCTCAAACTCCCAACCTCAAGCAATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCGCACCCGGCCCTATTTTTATTTTTGTAGAGGCAGGATCTTGCTGTGTTGCCCAGGCTAGTCTTGAACTCTTGGCCTCAAGCAATCCTTCTGCCTCGGCCTTCCAACATGCTGGGGTTACAGGCATGAGCCACTGTTCCTGCTTTCAGACATTTTTGATGGTGACCCAGAGTACAAAGTAAATTTTTCCACCATTTGAAAAAATTTTTGTTTGAGACAGTCTCGCTCTGTCACCTAGGCTGGCGTGCAGTGGCACGATCTCGACTCACTGCAACCTCCACCTCCTAGGTTCAAGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTATAGGCGTGTGCCACCACGCCCAGCTAATTTTTGTTATTTTCAGTAGAGATGGGTTTCCGCATGTTGACCAAGCTGGTCTGGAACTCCTGGCCTCAAGTGATTTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCTACCGTCTCCAGCCCCTATTTTTTCTTTTTAAAATAAGATTCTCAGCCGGGCACGGTGGCTGACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGAGTGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTAAGCCAAGATTGCGCCACCGTACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCATTCATAGATAGAGATAGATAGATAGATAGATAGATAGATAGACAGACAGACAGACAGACAG
|
CCCTAACAAGCCACACACACACATGTTGAACTCCATTTTTTATTGGATTTAACAAGAAGTGAAACGTTAATTACCTGCTTCTCTCCTTATGTCCCTTTTGCTGAAAAGGATACCACTTAGTAATGGAAGAGCTGAAAAACTAAGAGGGCTTCTCAGGACTCTCCCCGTCAACTCCCTCAGCCAACCAACTGCTAAGCCCTACCAATTCTAGCACCCTATTCTGTCCACTTCTCTTCAATCCCAAACCACCACCATCTGGTGCCTTGACGGCCTCCCATGTGGTCTCATCACTGCCTCCCTCCTCTAAACTACAAAGGCCACATGGCAGCCAGGACAATTATTTGAAATATACGTGTGATTTTGTCACCACACTCCTCCTCCACTGAACTTGTTTTACTTCTTCAGATACAACACGGTCTGGTCTCTGGCGTCCAAGTCTTCACACACCACGTTCCCTCTTCTGGAAAGGGTCATCACTCTATTAAGTATCACTCCGTTAGAGAGCCTCCTCTGTACCCACACGTTATAGAAGACACCCTGCCCATTCCTGGACAACCCTTTCCCCTGTATTTCTCCAGTGTCCCAGTAACTATCTGTGCACAGCACTATCACGTTTACCAATACAACCCTGCTGAGAATACGACCTGCTGTACAACAGGTGTTTAGCACTGAATGAATGAATGAATAGACATGTCTTAAGCTCCTACTTACCTCCAACATTCCCTCTGCCTTCACCAGCATCCTGAAAACTTACAACTTTAAGAACCTGGGACTCCCCCAGCCTTCAACTGCCACTGCCAACACCAGTGCAGTGGTTTGGATTGGTTTAGCTTGACTCAGGGGTGGTGGGTGTCTTGTCTGGCTCAGAACTTGAGTCCATTAACAAAGATTCTCATTACCGAACTTTGTTCTCAGTGAGGGCAAGTGGGTCATCATTGCCAGACAATGGCCAACCAACCCCTCAATTGAGAAGGGCTCAGTGAGTTCAGAGCCCAAAAGCTGCAGGCTCAGATGAGAAGCACCGGAGGCTGGAGGCACTGCCCAGCACAAACACAACTGTAGCACACCCTGCCTGTGGGTCTGTTTTGCCTCCTGGGCCCTGTGGTGTCTGCAGTGCTCACTGGACCCACGCCGTGACTTGTCAAGAAGCTGTGGGCCTGTTCAGGTGACTTCTCTTTCAGTTCCCCACTCACAGCACCTAAGCATTCTCATTTCTGTTCCTTCTTCCCTGTCTAACTCTTCTTTAGCCTTGCCTTCTCCTGCAAAGCCGGCCCTCAGGGACTCTGGGAAGGGTGAGGGGTCCTTCTCATGTCCTCACCACTGCTCACCACCATGGCTCTTCCCCACCAGAATGTACTCTGTGGGCAGGGATCAGGTGTTAGTCATCTCTGTGCTGATGAAGTCTGGCACAGAGTGGGCTTCAGGTCAATGTACCAGGCTATGCACCATGCTGGGCAGGCCTTTGTTCAATAGATGTTGGTGGGATGAAAGAACAGAAGGGAGGAGTGAGAAAAGGAAATGAGGCAAGTTGATTTGTTGGACTCATAAGCTGATTCTCTAGAGATCAGGGATGGAAATATTTCAAAAAATGTAGCTTAAGATTCTCATACCAGTGTGGCTATTGATAAGGGAGGGTTGGCAAATGTGTAAGGACAATGGTGACTCCACATAAAAGAAAAACAGAACACAGCATGGGACAGAGGTCAGTGACAAACTCTTCAAAAACAGCAGGGCACCCACCCTCCTTTGTGTTTCAGAAAGGAAGCCAAGGCCTTGCACACTTTCTCTGAGACCCTGCCCAGCCCGGCCTACCTTATGCATGACGATCTTCCGCTGGCCTGGCTCCGCCACGTCAATCATCTTCTGGACCACGTAGTTGGCATACTGGTCCTTCATCATGGTGTATAAGGCACTGTGGGGACCGTCGTTCATGGTGCACACCTCATCGATGAGCACAGCGCGCTCCGTACGTGAGGCGTGAGTAACACACTTCTCCACAACATTGCTGTAATGAGATAAAACCAGGGACAACTCTTACAAGAGAGGCCCGTTAGTGAGGCTGTGCTTGCCTAGCTTCTGCCCTGACCTCCGGACCAGCAGGGAGAGAGAGCTATTTAACATTTGAGGAAGATGAGTCGCCAACTGTCTGACTCTCTCAGTCTCTGACTCTCCACCTGTGCCATCTGTGGCATCCAATCGTAGGAAAGGGGGAACGTGGCATTAAATCAGATTTTTTCTCCAATCCACGGGGACTATAGAGGGTGATCAAATTATACACTGCCATACTACTGCATACTGACCACCCAGAGAGACCAGGTCTTCAAGGACATGGGACCCGGCCCTCTAACGGGTAAGGGTAAGGAGCCCAGGTAGGTGAGGAGACTTAAGCACAAGGTTCAGGACACTGGTTCACCACCAGCTGGTTATTATTTTAACACTTACCAAAATCTGTCCATTCTTTCCTCGCCTTTGTCAGTTCACCAAGGCCAGGAACAAACCTTACTTATGCCTATCTCCCTGCTGCCAAGCAGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATTGCTTGAATCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAGAGCAAGACTCCATCTCGAACTCCTGACCTCGTTATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCATGCCTGGCCTCAAATAAGTAATTTTTTTTTAAGTAAAAATAGAAATTTTAGAAAAGGAAAATATAACATCAGAAATAAAATTTACTGTATGGCTTTAATAGTGGATTAGAGATGACAGAAGAGTCAATGAACTTGAAAATAGATCAATAGAAGTAAACAAAAAAATACATCAGTGGCTTTCAGACATTTATTTTTTATTTTATTTTCATTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACTTCTGCCTCCCGGATTCAAATAATTCTTCTCCTGCCTCAGCCTCCCGAGCACCTGGGATTACAGATGTCCGCCATGACACCGGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGGCTCAAACTCCCAACCTCAAGCAATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCGCACCCGGCCCTATTTTTATTTTTGTAGAGGCAGGATCTTGCTGTGTTGCCCAGGCTAGTCTTGAACTCTTGGCCTCAAGCAATCCTTCTGCCTCGGCCTTCCAACATGCTGGGGTTACAGGCATGAGCCACTGTTCCTGCTTTCAGACATTTTTGATGGTGACCCAGAGTACAAAGTAAATTTTTCCACCATTTGAAAAAATTTTTGTTTGAGACAGTCTCGCTCTGTCACCTAGGCTGGCGTGCAGTGGCACGATCTCGACTCACTGCAACCTCCACCTCCTAGGTTCAAGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTATAGGCGTGTGCCACCACGCCCAGCTAATTTTTGTTATTTTCAGTAGAGATGGGTTTCCGCATGTTGACCAAGCTGGTCTGGAACTCCTGGCCTCAAGTGATTTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCTACCGTCTCCAGCCCCTATTTTTTCTTTTTAAAATAAGATTCTCAGCCGGGCACGGTGGCTGACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGAGTGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTAAGCCAAGATTGCGCCACCGTACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCATTCATAGATAGAGATAGATAGATAGATAGATAGATAGATAGACAGACAGACAGACAGACAGNN
|
benign
| 6,374 |
A mutation at chromosome position 32786922 on chromosome 1 in gene YARS1: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
GTGCCTAACACATGGGCACCTAGTAAGTCTTTTGTTCAAGTGTCTGTTGAAATGAATAGGAGCCTCTATTCTGTCCTTTTATAATTATCTCTTGTTTTTGAATCCTGATTTTGCATCTGTTCCTGAAATACTTCATTTTTGCTGAGTTAGGTCCTTTATTCCAGCCTGCTAAGTCATTTGGAGAGTGATTAAAGCACCAGTATATTAGCATTGTACCATTTGCCTATCGAATCTGGGAACCACCTGAATCCTCATCAAAGCCATTAACAAAATATGCAGCCCTGGAGAGCATAAACAGAGCCCTGGCCGGGCACAGGGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATATGAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAACCCCACAAAAACACAGAGCCCTGTAGCATATAACTACAAACCTAGCGGGCCAAGATGGAGAGGTCTGGCAGAGTTGAGTGGGGATTATCTTTCTTTTTCTTTTCTTTTCCTTTCTTTTTTTCTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGTTCACTGCAACCTCCGACTCCCAGGTTCAAGCGAATCCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCTGGCTACTTTTTTGTATTTTTAATAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCTGCACCCAGCCCATTTTCTTTTTTTTTTTTTTTTTTAGTATCTCATGTAATTTATTGAATACAGAAAGTGAAAAACAGAATGGTTGTATGGGTACTTGAAGAAGTATGGTTTCTACTGAATGAGTACTGCTTTTGTACATCCTAAAGGGACCACTCGTGTGTATAAGATTACAGACATTTACTGATAAGAAATGTTTCCTGAGAAGAGGTGAGACAGAGTCCCTGCCAGGTAAGGAAAGGGCCCCGAGGGATAGAAATCCATCTGTATTAACAAAATTCCTAAGTCAGAAAAGCTAACTGACAAGAAACTTTAACCAAAACTGCAATTTTGAAGGAAAATGGACACTAGTGAGATTACCAAAAGTAGAGCAAAAATAGCAGGCAGCTCACTTTTACACAGAACAAGTTGTTCTAAACAAGTTCTAACAGTCAGCAAAAAATAACAAAATACAGATCTTCATGAAAGGATTCCTTTTCCTTTCATGTTACCTCAGCAGCAAAGTCCTTTTCCAGGTCCACGTAAGCTGTGTAGGTTTTGTTTCCACCCCATTTCTCATCTCGTAGGATCACAAACTCTATAAGGAAAAGGATCCATGTCAACAAACTCATTGACAGCATTCCTAGCTCACATGCATGACTATTCCTAGCCCACATGCATGACTATTTGTAGTTTTTGCCATATATTCTGAACTTTATTGTATGGTATTATTCTTAAATTGGATGAGTGGCACTATTGTATACCCAGCTAGCATCTCAGCTGCTTCAGGGGAAGGCTTGTGGCTTATATCTATTTTGTTGTATTCCTCTAGTTCAACATGTCTGCCCCCACCCTTACTTCTAACACCTCTGCCCACTCCAGTATTCCCTCAGAACCTAGCCTGGTAACGAATATATGGACAATTAAATTACATCCCAACATCATTCATACTTTAATATATAAGAAATCAGAGCAGAGAATCAGGGCAGCCAGTCCCTGAAGGAAGAGTCTGTGACAAATCACAAGTATGATCACAGCACGAACTTTTCTATTCTAGCCTGGCCTCTAGGAAGAAAACAGAGAGTGTTACCGGACTTAAGGGGAAAAAGGACATGCTTGATGAAGGACAGAACCCCATTGTTCTCCACATTTCCTGGCTCACAGAAGGCCTTCTTCAGTTTTTTCTTCACATCCTCCTTCCGATCAAGGAGATCAATCTTGGACTCCTAGAAGTCATAGAACGGAAGAGGACCTCTTGTGGTTGAAAATGAGAATATGCTCAACTAATATAAGTTAAATTTTGTTTTTTCTTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCAGCCTCCTGGGCTCAAGAGATTCTCCCATCTCAGCCTCCTGGAAAGCTGGGACTACAGGAATGTGTCACCATGCCCAGGTAATTCTATTTTTTGTAGAGACAGGGTTTCATCATGTGGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAGCAACTCTCCTGCCTTGGCCTCCCAAAAAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTCGCTAAAAAAATTCTTTTTACAAAGATTTTAACATTAGGTACTTGCAGATATTTTCCTGTGGATGTGGTAAAAATAAATAAATAAAGATTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTGAGCTCACTGGAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCGAATAGCTGGGATTACAGGTGCCTGTCACCACGCCCAGCTAATTTTGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGGCAATAAAAATATTTTAACATTTGGCTGGGCACAGTGGCTCACACCTGTAGTCTTATCACTTTGGGAGGCTGGAGAGTCGCTTGAGCCCAGGAGTTCAAGACCAGTGTGGGCAACATAGAAAAACCTCATCTCTACTGAAAATAAAAAATTAGCTGGGTGTGGTTGTACGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCTGAGGTTGAAAGTGCAGTGAGGCATGATCATGCCACTACACTCCAGCCTGGGCGACAGTGAAAAACCACTCACAATCCTGCCATCTAACAAATTAAACTATTTTATTTTTTATATTCTTCTCAGGCTTTGTTTATAGCACACAAAATTGTTATGAATTTGTAGTTGGAGAATAAATGTCTATCTTTTAAGTATTTCTGAGTGGCTACCTGGTCCTTACTTACAATTTTTTTTCTTTTCAGATGGTCTCGCTCTGTTGCTCAGGATGGAGTACAGTGGTGCAATTATAGTTCACTGTAACCTCGAACTCCTGCCATTAAGTGATCTTCTGACCTCAGCCTCAAGAGGAGTTAGGACTACAGGTGTACAAAACCATGCCTGGCTAATTTTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTTTTGCTTTTGTTGCCCAGGCTGGAGTACAATGGCATGATCTCGACTCACCTCAACCTCCGCCTCCTGGGTTCAAGCGGTTCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCAAGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTGTCGAACTCCCGACCTTAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCATGCCTGGCTAATTATTTGTTAAAATGGGGTCTCACTGTGTTGCCCAGGACAATCTCAAACTCCTGGCCTCTAGCAATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTGATAGGATCTTGCTTGCTCTGTTGCCCTGGCTGGAGTGTGGTGGCACAATCATGGCCCACTGCGACCTTTGCCTCCCAGGCTCAAGTAGTCCTCCTACCTCAGCCTCCCATGTAGCTGGAACTATTGGT
|
GTGCCTAACACATGGGCACCTAGTAAGTCTTTTGTTCAAGTGTCTGTTGAAATGAATAGGAGCCTCTATTCTGTCCTTTTATAATTATCTCTTGTTTTTGAATCCTGATTTTGCATCTGTTCCTGAAATACTTCATTTTTGCTGAGTTAGGTCCTTTATTCCAGCCTGCTAAGTCATTTGGAGAGTGATTAAAGCACCAGTATATTAGCATTGTACCATTTGCCTATCGAATCTGGGAACCACCTGAATCCTCATCAAAGCCATTAACAAAATATGCAGCCCTGGAGAGCATAAACAGAGCCCTGGCCGGGCACAGGGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATATGAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAACCCCACAAAAACACAGAGCCCTGTAGCATATAACTACAAACCTAGCGGGCCAAGATGGAGAGGTCTGGCAGAGTTGAGTGGGGATTATCTTTCTTTTTCTTTTCTTTTCCTTTCTTTTTTTCTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGTTCACTGCAACCTCCGACTCCCAGGTTCAAGCGAATCCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCTGGCTACTTTTTTGTATTTTTAATAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCTGCACCCAGCCCATTTTCTTTTTTTTTTTTTTTTTTAGTATCTCATGTAATTTATTGAATACAGAAAGTGAAAAACAGAATGGTTGTATGGGTACTTGAAGAAGTATGGTTTCTACTGAATGAGTACTGCTTTTGTACATCCTAAAGGGACCACTCGTGTGTATAAGATTACAGACATTTACTGATAAGAAATGTTTCCTGAGAAGAGGTGAGACAGAGTCCCTGCCAGGTAAGGAAAGGGCCCCGAGGGATAGAAATCCATCTGTATTAACAAAATTCCTAAGTCAGAAAAGCTAACTGACAAGAAACTTTAACCAAAACTGCAATTTTGAAGGAAAATGGACACTAGTGAGATTACCAAAAGTAGAGCAAAAATAGCAGGCAGCTCACTTTTACACAGAACAAGTTGTTCTAAACAAGTTCTAACAGTCAGCAAAAAATAACAAAATACAGATCTTCATGAAAGGATTCCTTTTCCTTTCATGTTACCTCAGCAGCAAAGTCCTTTTCCAGGTCCACGTAAGCTGTGTAGGTTTTGTTTCCACCCCATTTCTCATCTCGTAGGATCACAAACTCTATAAGGAAAAGGATCCATGTCAACAAACTCATTGACAGCATTCCTAGCTCACATGCATGACTATTCCTAGCCCACATGCATGACTATTTGTAGTTTTTGCCATATATTCTGAACTTTATTGTATGGTATTATTCTTAAATTGGATGAGTGGCACTATTGTATACCCAGCTAGCATCTCAGCTGCTTCAGGGGAAGGCTTGTGGCTTATATCTATTTTGTTGTATTCCTCTAGTTCAACATGTCTGCCCCCACCCTTACTTCTAACACCTCTGCCCACTCCAGTATTCCCTCAGAACCTAGCCTGGTAACGAATATATGGACAATTAAATTACATCCCAACATCATTCATACTTTAATATATAAGAAATCAGAGCAGAGAATCAGGGCAGCCAGTCCCTGAAGGAAGAGTCTGTGACAAATCACAAGTATGATCACAGCACGAACTTTTCTATTCTAGCCTGGCCTCTAGGAAGAAACAGAGAGTGTTACCGGACTTAAGGGGAAAAAGGACATGCTTGATGAAGGACAGAACCCCATTGTTCTCCACATTTCCTGGCTCACAGAAGGCCTTCTTCAGTTTTTTCTTCACATCCTCCTTCCGATCAAGGAGATCAATCTTGGACTCCTAGAAGTCATAGAACGGAAGAGGACCTCTTGTGGTTGAAAATGAGAATATGCTCAACTAATATAAGTTAAATTTTGTTTTTTCTTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCAGCCTCCTGGGCTCAAGAGATTCTCCCATCTCAGCCTCCTGGAAAGCTGGGACTACAGGAATGTGTCACCATGCCCAGGTAATTCTATTTTTTGTAGAGACAGGGTTTCATCATGTGGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAGCAACTCTCCTGCCTTGGCCTCCCAAAAAGTGCTGGGATTAAAGGTGTGAGCCACTGTGCCTCGCTAAAAAAATTCTTTTTACAAAGATTTTAACATTAGGTACTTGCAGATATTTTCCTGTGGATGTGGTAAAAATAAATAAATAAAGATTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTGAGCTCACTGGAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCGAATAGCTGGGATTACAGGTGCCTGTCACCACGCCCAGCTAATTTTGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGGCAATAAAAATATTTTAACATTTGGCTGGGCACAGTGGCTCACACCTGTAGTCTTATCACTTTGGGAGGCTGGAGAGTCGCTTGAGCCCAGGAGTTCAAGACCAGTGTGGGCAACATAGAAAAACCTCATCTCTACTGAAAATAAAAAATTAGCTGGGTGTGGTTGTACGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCTGAGGTTGAAAGTGCAGTGAGGCATGATCATGCCACTACACTCCAGCCTGGGCGACAGTGAAAAACCACTCACAATCCTGCCATCTAACAAATTAAACTATTTTATTTTTTATATTCTTCTCAGGCTTTGTTTATAGCACACAAAATTGTTATGAATTTGTAGTTGGAGAATAAATGTCTATCTTTTAAGTATTTCTGAGTGGCTACCTGGTCCTTACTTACAATTTTTTTTCTTTTCAGATGGTCTCGCTCTGTTGCTCAGGATGGAGTACAGTGGTGCAATTATAGTTCACTGTAACCTCGAACTCCTGCCATTAAGTGATCTTCTGACCTCAGCCTCAAGAGGAGTTAGGACTACAGGTGTACAAAACCATGCCTGGCTAATTTTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTTTTGCTTTTGTTGCCCAGGCTGGAGTACAATGGCATGATCTCGACTCACCTCAACCTCCGCCTCCTGGGTTCAAGCGGTTCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCAAGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTGTCGAACTCCCGACCTTAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCATGCCTGGCTAATTATTTGTTAAAATGGGGTCTCACTGTGTTGCCCAGGACAATCTCAAACTCCTGGCCTCTAGCAATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTGATAGGATCTTGCTTGCTCTGTTGCCCTGGCTGGAGTGTGGTGGCACAATCATGGCCCACTGCGACCTTTGCCTCCCAGGCTCAAGTAGTCCTCCTACCTCAGCCTCCCATGTAGCTGGAACTATTGGTN
|
benign
| 6,474 |
Clinically, how would you classify the variant at chromosome 1, position 33036744, gene AK2: benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Reticular_dysgenesis']
|
CTATACTAGTATAGGTTGTCCATTCCATAATTACTGAAATTATTAACTTCAATATGAGTTAAGAAAAAAATCTCAGGGCATAGTGGCTTGTGCCTATAATCCCTGCACTTTGGGAGGTCAAGGCAGGATGATCGCCTGTGTCCAGGAGTTCAATACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAATTGTTTAAAAATTAGCTGGGCATGGTAGCATGTGCCTGTACTCCCAGCTACCTGGGAGGGTGAGGTGGGAGGATTGCTTGAGCTCACACCACTGCGCTCCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAGAAAAAGAAAAAGAAAAACAATGAAGCATTTGAGCTACTGTTTATACTTGATCACTCACAGCAAAAGTCTGCAGAGTCTAAGATTAAACTTCCCTAAGCTGCAGATTACCCAATAAATGAGTGTGGCAGCAACAGGAAAGAGATGTCAACAACGCTGAGGATAAAGGATAAAGGGATCAGGTACAGGTAAGCTCCAAAGAAGAATCATCTCAGTCTGTGGAGAGAAAAGAAAGCTGTATTTTCTGACTTAGTGCCCAGGTCACAGGAATGAATGGAGTGTTCCAGAACTTCTTTCTTTATCACCCACATTAATCTGTGACATTCATCCACTTCCACTAACCCCATCAAGGGCCAAGTAATGTGCTAGGTGCCACAAGGGGTACCAAGAATGAGTAAGATGGTCTGTTTGCCAAGATTTTTAAAACTTGGCAAGTGCTAGGAAGAGAAAAGCGGGCACAGGGCAGTCCTCAGATTCCCTTTCATTTGGGAGCTCAGACTTCCCTCTTTGAAGCCTAACAACAGGCAAGAGCCAGAGGCTTAGGGCCCCAGGTGCAATGCCAGACCCCAAGCAAGAAGGGGACATCAATAATCCAACCTGCGGGCTTCCAAATCCGAAATGAGATCATCGATCCCAACCCTAATCTATGGCCCCATTATGTCCCAGATCTAGAAGGGGCCCAGATCCCAAGTGAGGCCCCTGTTGCCTGCTAGGGCAGATGGTAACTTCAGACTCTAACTCCATGGTTCCTGAGGTCTCAGGCTCATGAAACTCATTTCACTAATTTGGGAAAGCCACCTGACCTTTCTGGGCCTGTTTTTTAACCTGTTGATTGATAAAGTTAAAATTTCAAGTTCCCTATAAACAACAACAAAATAAAAAAAGGAAAAAATAAATAAAAACCAAAGGGAAGGAAGATACAAACAAACAAAAATAATAAAAACAAAATAAAAAAAAATTCAAGTTCCTTTTCATCTAAAATCATTTGCGTCATCCCAAGCTGCTTAGCCTTCAGTAGCCTCAGGTCCTAACTCCAAGCCAGGTCCCATGAGCACTCCCAACCCTTATTGTGGACACTACTCAAAGGTTGCGACTCATGGGTCTCCAGGCTATAAACCAGTTCTACACATTCACCCCCAACTTTCAAACAGGGAGAGCCTTAGGTTTCCTCCCATCTCAATTCAACTGGCTCACACAGCACATGTCACCTCTCACTCTGCCCCACGTGTTGGAGATGCTTCTCCTCCCCTCCCCCTAAGTCATAAATCATTATCAAAATCTCCCGACCTCCAGTGCCTGGAATGTAACCCTGATTCTGGACAATTCACCTCCAACTCGCAGGTAACCTGGGCCATAAAGCTAATTGCCTCCATTCAGCCTGTAATCTAGATGCCTCGGCCCAGGGCTCACTCTACCCCTCAAACCTTTCCAGTCTCTAGACCCTTAGTGGAATTAATCAGCCCTCACATTCCCTAACCCAACACTTCAACACTGAATCCCTCGGGCACTCCAATCCTAACTCAGACTGCCCCGACCTCCAATTTGGACCCTCTCCGAAATGCCCCACCAGAACCGAGACCCCGGCCAGCGTTCCCCGCAGGCCTTAGTCCCCGGCCCGCTCCGGGCAGGTCCAGGGCTTCTAGATCTCCGGCCGCCTTGACCTTGGAGTTCAGCAGGCTCCGCCGCCAAGCCCAGTCCTGCCGCTCACCTGGGTCCCTTTACCGGCCCCGGGAGGCCCCAGCAGCACGGCCCGGATGCCTTTAGGATACTCGGGTTCTGCCGCTGGCACGCTGGGAGCCATGTCCGCCGAAGTCTCTCACTGCCACCAGTTCGCACGCCTCACAGGTCCAGTGCTTCCCAGGTCAACGCACGCACGCCACGCACGTCCCACTCGCCGCTCACACTGGCCCATAGCCGCGTCCGTCAGCCCGTTCCGCCCGCCCCTGAGCACGACGGACTCTTCACCTTACCAACTGCACGGCGATACTGAGGAACTTTGCTTTTGATTGGACAGAATTGGTGCGGGATAAGGAAGGGGCGGGCCAGCATGTACTAAGGGTGGCGGGTGTGCGGAGTGGGCGGGAAAACGCGAAGGAGGACAGGAGGTCAGGCCGGAAGGTATACTTCGGCATTTGACAGTTGACGACACCAGCAACAACATTGAAATCCTATTAAATTGCGCGTGGGAGTTTAAATGGGTAAAATCACTCTTAGAAGACAAATTAGTAATATGTTTCAAATACCCTTTGGTCCAGCAATTCCACTTCCACGAATTCAATGGATAAAATCAAGGATATGAGTAAAGATTCGTGTAACAAAGTTGTTAATTGCAACACTTAGCCCAAAAGCCCGAGAAAAACCATAAAATAAAGGCAATACTCCAAATGTCCAACAATAAGAGATTGGTTAAATAAATTGCAACCAATTTGTATCCTGGAATACCCCTGTTGTATAAGATAATTTAATCATGCGGGAAAATGTTAGCAAAGCGAGATACAAAATTGCAGTTACAACAAAATCCGAATTTTGGCCGGACGCGGTGGCTCACGCCTGTAATCCCCACACTTTGGGAGACCATGGCGAGCGGATTACCTGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGATGAAACCCCATCTCTACTGAAAATACAAAATTAGCTGGGAGTGGTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCAAGATTGAGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCCCACTCCCCCCCCAAAAAATCCCGATTTTGTTTATTACAAGTGTAGACCGCTGTGTAGTGTGATTAGAGGAGCACCTCTCCTTTGTATATTTTAATAGATTTTTTAAAGTTCTATGGTAAATTCTTAATAAGTTTAAAAACTTAAGTTTAAAACAAGTTTTACCTTTATATTAAGAAAAACGTTAACCTTTTAAAGTCAGGAAAAGATAGTTTTTCTCAAAAGAGATGACCCTCTTGGATAGGGAAATAATTTCTACAGCTTTTTGGTGTGTGAAAGTTTCATCCAGCTCCAAGGGCCTCTTTGGACCTTTAGTTAAGAGTGTGTAATGAAACGATTATGTTTCCCCACAGGCTCCTAACAACTCATTTTCTACATCTTGATGATGAATTTGCTATCCCTTCAGCTGTGGTCTCTTCTTTTTTTTTTTTTTTTTGAGACGTGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGACTATAGGTGCCCACCACCACGCCTGGCTAATTTTTTTTATACTTTTAGTAGACACGGGATTTCACCGTGTTAGTCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCGCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCAGCTGTGGTCTCTTCCTTACCACACAGAAGTCAACATTCATTTCTCATCGCCACGCTGGACTTTTACAGTGTACCTGCTTAATCTTGTTGGATACTCCCAATGACATTGAAGGAAGAAAGGATTGTTATGTCTATTATTCAGAATGGAAGCTGAGGCCTGAAGATACGTAGTGACCAAAGTCACACAGTAGCAGACTCACAATTAAGACTGAGGATGAGCCAGGTCCAGTGACTCACG
|
CTATACTAGTATAGGTTGTCCATTCCATAATTACTGAAATTATTAACTTCAATATGAGTTAAGAAAAAAATCTCAGGGCATAGTGGCTTGTGCCTATAATCCCTGCACTTTGGGAGGTCAAGGCAGGATGATCGCCTGTGTCCAGGAGTTCAATACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAATTGTTTAAAAATTAGCTGGGCATGGTAGCATGTGCCTGTACTCCCAGCTACCTGGGAGGGTGAGGTGGGAGGATTGCTTGAGCTCACACCACTGCGCTCCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAGAAAAAGAAAAAGAAAAACAATGAAGCATTTGAGCTACTGTTTATACTTGATCACTCACAGCAAAAGTCTGCAGAGTCTAAGATTAAACTTCCCTAAGCTGCAGATTACCCAATAAATGAGTGTGGCAGCAACAGGAAAGAGATGTCAACAACGCTGAGGATAAAGGATAAAGGGATCAGGTACAGGTAAGCTCCAAAGAAGAATCATCTCAGTCTGTGGAGAGAAAAGAAAGCTGTATTTTCTGACTTAGTGCCCAGGTCACAGGAATGAATGGAGTGTTCCAGAACTTCTTTCTTTATCACCCACATTAATCTGTGACATTCATCCACTTCCACTAACCCCATCAAGGGCCAAGTAATGTGCTAGGTGCCACAAGGGGTACCAAGAATGAGTAAGATGGTCTGTTTGCCAAGATTTTTAAAACTTGGCAAGTGCTAGGAAGAGAAAAGCGGGCACAGGGCAGTCCTCAGATTCCCTTTCATTTGGGAGCTCAGACTTCCCTCTTTGAAGCCTAACAACAGGCAAGAGCCAGAGGCTTAGGGCCCCAGGTGCAATGCCAGACCCCAAGCAAGAAGGGGACATCAATAATCCAACCTGCGGGCTTCCAAATCCGAAATGAGATCATCGATCCCAACCCTAATCTATGGCCCCATTATGTCCCAGATCTAGAAGGGGCCCAGATCCCAAGTGAGGCCCCTGTTGCCTGCTAGGGCAGATGGTAACTTCAGACTCTAACTCCATGGTTCCTGAGGTCTCAGGCTCATGAAACTCATTTCACTAATTTGGGAAAGCCACCTGACCTTTCTGGGCCTGTTTTTTAACCTGTTGATTGATAAAGTTAAAATTTCAAGTTCCCTATAAACAACAACAAAATAAAAAAAGGAAAAAATAAATAAAAACCAAAGGGAAGGAAGATACAAACAAACAAAAATAATAAAAACAAAATAAAAAAAAATTCAAGTTCCTTTTCATCTAAAATCATTTGCGTCATCCCAAGCTGCTTAGCCTTCAGTAGCCTCAGGTCCTAACTCCAAGCCAGGTCCCATGAGCACTCCCAACCCTTATTGTGGACACTACTCAAAGGTTGCGACTCATGGGTCTCCAGGCTATAAACCAGTTCTACACATTCACCCCCAACTTTCAAACAGGGAGAGCCTTAGGTTTCCTCCCATCTCAATTCAACTGGCTCACACAGCACATGTCACCTCTCACTCTGCCCCACGTGTTGGAGATGCTTCTCCTCCCCTCCCCCTAAGTCATAAATCATTATCAAAATCTCCCGACCTCCAGTGCCTGGAATGTAACCCTGATTCTGGACAATTCACCTCCAACTCGCAGGTAACCTGGGCCATAAAGCTAATTGCCTCCATTCAGCCTGTAATCTAGATGCCTCGGCCCAGGGCTCACTCTACCCCTCAAACCTTTCCAGTCTCTAGACCCTTAGTGGAATTAATCAGCCCTCACATTCCCTAACCCAACACTTCAACACTGAATCCCTCGGGCACTCCAATCCTAACTCAGACTGCCCCGACCTCCAATTTGGACCCTCTCCGAAATGCCCCACCAGAACCGAGACCCCGGCCAGCGTTCCCCGCAGGCCTTAGTCCCCGGCCCGCTCCGGGCAGGTCCAGGGCTTCTAGATCTCCGGCCGCCTTGACCTTGGAGTTCAGCAGGCTCCGCCGCCAAGCCCAGTCCTGCCGCTCACCTGGGTCCCTTTTACCGGCCCCGGGAGGCCCCAGCAGCACGGCCCGGATGCCTTTAGGATACTCGGGTTCTGCCGCTGGCACGCTGGGAGCCATGTCCGCCGAAGTCTCTCACTGCCACCAGTTCGCACGCCTCACAGGTCCAGTGCTTCCCAGGTCAACGCACGCACGCCACGCACGTCCCACTCGCCGCTCACACTGGCCCATAGCCGCGTCCGTCAGCCCGTTCCGCCCGCCCCTGAGCACGACGGACTCTTCACCTTACCAACTGCACGGCGATACTGAGGAACTTTGCTTTTGATTGGACAGAATTGGTGCGGGATAAGGAAGGGGCGGGCCAGCATGTACTAAGGGTGGCGGGTGTGCGGAGTGGGCGGGAAAACGCGAAGGAGGACAGGAGGTCAGGCCGGAAGGTATACTTCGGCATTTGACAGTTGACGACACCAGCAACAACATTGAAATCCTATTAAATTGCGCGTGGGAGTTTAAATGGGTAAAATCACTCTTAGAAGACAAATTAGTAATATGTTTCAAATACCCTTTGGTCCAGCAATTCCACTTCCACGAATTCAATGGATAAAATCAAGGATATGAGTAAAGATTCGTGTAACAAAGTTGTTAATTGCAACACTTAGCCCAAAAGCCCGAGAAAAACCATAAAATAAAGGCAATACTCCAAATGTCCAACAATAAGAGATTGGTTAAATAAATTGCAACCAATTTGTATCCTGGAATACCCCTGTTGTATAAGATAATTTAATCATGCGGGAAAATGTTAGCAAAGCGAGATACAAAATTGCAGTTACAACAAAATCCGAATTTTGGCCGGACGCGGTGGCTCACGCCTGTAATCCCCACACTTTGGGAGACCATGGCGAGCGGATTACCTGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGATGAAACCCCATCTCTACTGAAAATACAAAATTAGCTGGGAGTGGTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCAAGATTGAGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCCCACTCCCCCCCCAAAAAATCCCGATTTTGTTTATTACAAGTGTAGACCGCTGTGTAGTGTGATTAGAGGAGCACCTCTCCTTTGTATATTTTAATAGATTTTTTAAAGTTCTATGGTAAATTCTTAATAAGTTTAAAAACTTAAGTTTAAAACAAGTTTTACCTTTATATTAAGAAAAACGTTAACCTTTTAAAGTCAGGAAAAGATAGTTTTTCTCAAAAGAGATGACCCTCTTGGATAGGGAAATAATTTCTACAGCTTTTTGGTGTGTGAAAGTTTCATCCAGCTCCAAGGGCCTCTTTGGACCTTTAGTTAAGAGTGTGTAATGAAACGATTATGTTTCCCCACAGGCTCCTAACAACTCATTTTCTACATCTTGATGATGAATTTGCTATCCCTTCAGCTGTGGTCTCTTCTTTTTTTTTTTTTTTTTGAGACGTGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGACTATAGGTGCCCACCACCACGCCTGGCTAATTTTTTTTATACTTTTAGTAGACACGGGATTTCACCGTGTTAGTCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCGCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCAGCTGTGGTCTCTTCCTTACCACACAGAAGTCAACATTCATTTCTCATCGCCACGCTGGACTTTTACAGTGTACCTGCTTAATCTTGTTGGATACTCCCAATGACATTGAAGGAAGAAAGGATTGTTATGTCTATTATTCAGAATGGAAGCTGAGGCCTGAAGATACGTAGTGACCAAAGTCACACAGTAGCAGACTCACAATTAAGACTGAGGATGAGCCAGGTCCAGTGACTCAC
|
pathogenic
| 6,529 |
Gene mutation in GJB4 (gap junction protein beta 4) at chromosome 1, position 34761406—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
AGACCTCAGTATCAGGCTTCCCAGGAAAAGGGCAGGAGAGAGGGCAAGGAGGCAGGGTAAGGAGGCAATGGGAAGGGGACAGGGTCAATCCCACTGGTGCTGTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCAGGCTAGAGAGGAGGCGTGGGCCAGGAGAGAAGAGCCGCAGGTGTTTGCTCTGAGTATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCATCACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCTCCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGAC
|
AGACCTCAGTATCAGGCTTCCCAGGAAAAGGGCAGGAGAGAGGGCAAGGAGGCAGGGTAAGGAGGCAATGGGAAGGGGACAGGGTCAATCCCACTGGTGCTGTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCAGGCTAGAGAGGAGGCGTGGGCCAGGAGAGAAGAGCCGCAGGTGTTTGCTCTGAGTATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGGCCCAGAAAGCCCCACCCAGCAAGGGAGAGAGGAACAAAAGCTGCCTCCGGGAGGTCCTGAGGCAAACAGACAAGCCCAAGGACAAGGAAGCAGCTACTGGACCCAAGAAGGGTGAGGACCGAATAGGGCAGGAGGCTGGCCAGGAAGCAAGCAACCAGCTGAGCTGAGGATATCCAAGGGACCTCAGGCTGTGGGCTGGGCTTCAGGGAGGGAGCCAGAGGGTCAGTGTCCCTAGAGGATCCCCAGGGAAGTGCCAAGGAGGAGAAGGAATGTCCTGGCTGACCTAAGGGACGACAGAAGATTGGGGAAGAGGGGGTATCAGGAAGAAATGGGTTTCAGTTCAGTTTAACAAACATCTATTGTGTGTTCACTGGGCCAGGCCAGTGCTAGGTGCTAGGGAGACAGAGGTGAAGAGCCTGCCCTCTAGCAGCTGACAGCCTGGCAAAAAAATAAGACAGGTAAATAGACCATTTGGGTACAGGCGATGCCTCTTGCTCTGAAAGTGTCCCAGGCACACGATGTCTGAAGAGGCTGAGAGCAGAGTCAGGGATTGGGGATGGGGAAGGAGGAGGGTAGGAGGAGGGGAGGGTTGGACATGGGGCCTGATGGGGACTCCAGACAAGGGGGTGTGGAGGTCAGAGTCCACAGGAGAGGGGCCTGAGAGGAAATAATGGAAATGCGGCTAGCAAACAGCCACTAAATGGACAGAGGAGGGGGTGCCCCCAGAGAAAGTAAATGGGGGGTCCAGACCATGCCAGAATCCATCCTCAGTCCTTCCTAAAGCTGGAATGGTTGGAATTCCAGAGGAACCCACTGTGGTCAAGACAGTCAGCCCTCAGGCCCCAGCACCAGTACACGGGTTGGCAGGGATGATATCAAGTCCCCGTGATTCCAAAGCACCTCTGTTTAGTTTGGGAGGGAATGCCAGGGCTGAGAACCTTCCTGGAGCCAGAGGCAAGGAGTAAGGATGCAGATTGTTCTGGGATTTACCAAGGGGCTGATGTGAACGTCCCCAACACGGGGCCAGGCTCTTGTTGGTGTTCAGTAAAAGTGGGATGGATCTGACAACTGATAAGGATACGTTCCCACCCCTCCTGCCCTGGCCCAGCCCTGGCAGCTGATGGGAGAGCAGATCGTCCAATTCAAGCCTTCCTACGGTCTCTTTAGAAGACATGGGCTGAAACTTGGGGTAATAGAGGTTGGCTGGCATATCCATGCAGGATGATTGTCTTCACATGTATCTATTACCTTGTAGAATAAGGTAGACCCTGATTTTGGAACCTGAAGACCAAAGTGCAAGATTAGCTCTGCTACTTCCATCTGTGGACCATTGGGCAGGTATCTCTGGGCCTTCACTTACTCTTTGTGAAATGAGGACAGGGGCAATCCCTACCCTACCAAGTCATTGGGAGTGAAGACATGATGACACGGTGATTGTGAAAAGATTTTGTCAATCGCACCAGCATTAAGGGTGCCCATCTCCAGGTTCCCCCAGGCCTCAAGGCTCCCAAGGCCTGAGTGGGCAGGTAGCACCCAGGTATAGACCTTCCACGTGCAGCACCCAGGACACAGCCAGCATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCGGAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGCAACACCAAGCAGCCCGGCTGCCCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAGCTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAACGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTGAGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCCGTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGCGTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCCACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTCAACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGGCACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCCCAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTGGATGCAGGTGGGTATCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCCCCCCACATGAGGCCACCCAGGAAAAAAGGCAGGGGCAGTGGCATCCTTGCCGTAGCAGGGTGGTGAGGAGGGTGGCTGTGGGGGCTCAGGAAGCTCGCCCAGGGGCCAATGTGGGAGGTTGGGGGTAGTTTGGTCCCTGGGTCCTGAGCCTCAGGGGAGGGAGGTTGATAGCTACTGGGGATTTTGTATATGGCAACAGTATATGTCAAACCTCTTAATAAATATGATTTTCCCAGTACTTTGCAGACCAGGTGGGGAGTGGCCGATAGGAAAACGGGGGGCAGGGGGGATTAGGTGGACCTCAGAGAGGATGCCAAGACTACTCAGTGAGCACCTGAGCACTGGAACCTCAGATCCAGGCTCACCCATCACCCCCCAACACACACAGTGTGTGCCCCCAGAACATGATGGGCTGTGCCCAAAGGCAGAGGCTACTCCAGGGGCCTCTGGGTTGTGCAACCACCTGGCCAAAGCAGGAGGAGAGGAATTCCAGGAGACCCTGTGCCCAGCAGGAGTCAGTTCTCAGTGATCGTCCATCACAGGAATGAGCGTGGGTTGGGCCTCCCTAGCCCTGCCCAGCACAGGTCCCGGATAGGTGAGTCCCCTCTGACGGTGGGAGGGTCACGGCTGAGAGCAAGCCAGGGATGGGAATCTGTCAAGGTGCCCAAGAGGCACATCCTACAGGCCAGGGCCCACTGAGAGTGTCTGAGCTGAAAGGTCCCTTGTGGATCCTGGAGTCTATGGAATTTCATGTTCTTTTTCACTGATACAACTTCCCCATCCCATACTCCCCCACCCCACCACCACTCAGACTTTGGCAACTCCCAGAACCACACCTCCACCCTAACATGCCTCTGAGTCCCACCAAATGCCCACTAGACAATTCCCTGGGAGGCCCCCAGGCATCTCATACCCGCCACTCCCAAGCTGACCTCATCAGCTCACCCAGACCTGCCCCCTTGAAGATGCCCCACCCCATCTCATGCAGGACACAGCTATTCACCCAGCTGCCCAAGCCAGGGGACGAGACAAGCCTGACATCCTTGTCCCTCACACCCCACACCCCCACTGGCACCAAATCCCACTGATTCCAGTCCCTAAATGCCACCTGAATCTGCTCTTCCTCTCCTTACAACAACCTAACTACCTCCTGGACCTCCCCCATCTGCCCTCCGCTACAGGGATGGAGTGATTTATCTGTCTATGCAACTGACCATGTCATTCCACCTGCTTTAAAATTTCTTCCACCATCACCAGCCCCATGCCCTCAGCATGGCCCCCGCTGACCTCCCCACCTCATCCCAGCTTCCTCCCCTTTTCTACCTGCAAGTAATACCAAAGGGCTCCTGGTTCCCCAGGCAGACNNNN
|
benign
| 6,543 |
Evaluate this variant at chromosome 1, position 35901573, gene AGO1 (argonaute RISC component 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['AGO1-related_disorder', 'Intellectual_disability', 'likely other unspecified diseases']
|
TAGTCTTTTGCTAGTGTTAATTCTGTATCTTTAACCACCTGTAGAGAATGCTACAACTTTAAGGCACCTTTAAGAGAGCAATCTCACAAATTTCAATAATTTTGGATTTTCATTACGTGAATTGACTATTTTGTTTATTCTCTGGAATATGGAGTTTGAAGGCAGGTGACCTTGGGCTGGTTTTCCTTCCCATTGTTTACCATGAACTCTGGGAATTAGGACGAGAACTAGTATGTAAAGAATGTTGGCCCTATGGGAGCAAGTTCCTCATTTCATCTCATCTAAATCCTTACAACAAACTCATGAGACAGCTAGTGTATTTTTTTTTCTCATGTTTGAGATTAAAGAAGAAGATTCTCAGAGTGGTTAAGAGTCCTGTTTAAGGTAACATCACCTAGAAATGGCAAAGCTGGACTTCAAACAGAAGTATTTCCAGACCTACTGGCTCTCTCAATTCTAGAAGCCTTTCTGTTCACAGCATCCTGAATATAGTATATTGGGGAGTGGAAGTCTTGTATGTCACTAGACAGCTTTTTATGATCTCTGTTGTTTTCTGTTGGGCCCAGAACAGATGAAGTAAATGGCAGGATGTTTCTCACACCAGCAGAGGACACTGTCAGCCAACAGAGACAGTGATAGCTGTAGGCTGGGGGCTCAGGAGTTTAGAACCAACCCTAGTCCTGGTGGGTTGCAGGATGGAGCAACCTGTCACCATTGGACAGCTGCCTTAGAAATCTAATTTGTGTATATTGAGTTGTTCAGTATTCAGAAGAGCTCTATATATGGTCCTTTGGTAAATAATAATCTGTGCTACAATTTATTGTTTACTGTGTTCCAGAACTATACTCAGTCCTTTAAGTGCTTTATTTAATCTTGAGGCAACTCTTAGATTGTTACTATTATCCTTCCTTAAAATATGAAGGTCAGGCATGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCGGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAATTAGCCGGGCATGGTAGCACATGACTGTAATCCCAGCTACTTGGAACGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGAAGGTTGCAGTAAGCCGAGATCGTGCCATTGCACTTCAGCCTGGGCAAGAAGAGCAAAACTCCCTCTCAAAAATAAACAAATAAATACATAAGTACAAAAATTAGCGAGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTAAACCCGGGAGGCAGATGTCTCTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTAACAGAGCGAGACTCTATCTCAAAAAAATAAATAAATAAATAAAATATGAGACCTGAGCCCAGATCTGGCTCTGGATCACAAGCGGTTGAATTGCCCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGCGTTCAGTGGCGTGATCTGGGCTCACTGCAACCTCCGCCTCCCGGTTCAAGCGATTCTTGTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGGCCGCCTTGGCCTCCTAAGGTGCTGGGATTGCAGGCATGAGCCACCATGCCCGGCCTGAATCGCCTTTTACAATGCACACGAATATTTTCTAATTTACCTATCAAATGATACTCAGGAGGAGAATACATGTATGCACAACGGATTTTGCAGTTCCCTTCCCCATGGCTGACAGCCAAGGTATCTTTCCTTATTGTGGGGCTCTGGGTACAGGGTGGACTGTACTCAAGCCAGAGCTACCTGTCCTTCTTGTTTCCTCAGGTCTGTAACATTGTGGCTGGGCAGCGCTGTATTAAAAAGCTGACCGACAACCAGACCTCGACCATGATAAAGGCCACAGCTAGATCCGCTCCAGACAGACAGGAGGAGATCAGTCGCCTGGTCAGTGGGCCTACTCATTTGCTCAGTCATTGGGGCCATTGGTAGCATAAATGTTTTAATGCCCCAGCAGGACCTTCCTTCAGGAGAACCCAAGTCTAGATTTGTTGCCTAGGACTGTATAAGGCTGCTTTTGCTTCTTGACCGTATAGCTACTTTGCTTTCTGTCTCTTTTTCTCTCCTGTATTACTTTGCTGTGTTATTCCCTCACTTCCCTCATCTTCCACTTTCTCTCTCTTTTTAGGACTATTCCGTACCAACCCCAGCTTCTCCTTAGGGTTCTCTCCTTGATACCCAGAGGGTGAGCAGTATTGCCAAGCTCCTGTTCTCCTGAGATTGCTCTCTTTTGTCCTGCAGATGAAGAATGCCAGCTACAACTTAGATCCCTACATCCAGGAATTTGGGATCAAAGTGAAGGATGACATGACGGAGGTGACAGGGCGAGTGCTGCCGGCGCCCATCTTGCAGTACGGCGGCCGGGTGAGCAGGGTCAGGGCCAGACAACATCTCGGGGCATATGGGGGTGGTTGGGTTGTATAGCCAGGGGCTTTTGCTCCCCTACCCACCTGACTCTACTGAGGCTCACCTAGGCGCCCCCTCTACCTATCCCCAGAACCGGGCCATTGCCACACCCAATCAGGGTGTCTGGGACATGCGGGGGAAACAGTTCTACAATGGGATTGAGATCAAAGTCTGGGCCATCGCCTGCTTCGCACCCCAAAAACAGTGTCGAGAAGAGGTGCTCAAGTAAGGAGGGTTCGCTGTAGGGGTGGAAGGGTGGGAAGGACCCTGGAGCTGCCTGCCTTCCTGTAGTCCACAGGGGCTGATATTGATCAGTAATGTGTTCTGTCTTGACTCTGCCTGCATTGTGCTTTCTGGCTCAAACTTCTACCAATTCTTTTTCTATCCATCTGTGATCAGGGGAAGTTAATAAGGAGCCATATCTATGTCAAAGATGATGATTTTAGGGCATGAATCTCCTGAGAGAGGCCTGAATTATTGTTATAATTATTATCATTGGTAATAAATAGTAGTAGTGATGACTGTAATGTTTACGCCAAAATTATACTTAAGTACCTAATTTATATTCTCTTATTTCATCTTTACAGTGAGTAGGTGGTGATATGTCCATTTTCAGGAGACTGAGGCTCAAAAGAGGTTAAGTAACTTGTCCAAAGTTTGCACATCATCAGGAAAGTGTCAGAGTTGGAAGCAAATCAGATCTGAGCTTCAAGACTTGTGTTCCTAATTGGAAACAAAATAGAGCAGCTTGTTTAGCTGGTTGTCAGGGCCTCTGTGCCACCGTAGCTGGGAGTAGATGGCACCAATGAGGAAAGTGTTATAGCCAAATGGTTTAAAGAAACCAGGCAGTAATGGCTTAAGAAGTCAACAACCCCTCACCTGGAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCATGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCAGTGTGTTAGCCAGGATGATCTCGATTTCCTGACCTCGTGATCCTCCTGCTTCGGTCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCTTTTTTTTTTTTTAAGTTTTATTGAGATAGGTTTAAAATGCCACAAAACTCAGTTAGTTGTTTCATAGATACAACATACAGTTAGTTGGTTACTGCCATCTTTCGAAGTGGTTGCTTTTCATATTCTCTGAATCTGGAGTGGGGTCAATGCACTCTAGGGATGAGGAGGAGTTGATGGAGCCGACCATTTTGGCTAGACAAGGGTAGTGGGGAAGTATGCCATGACGAATTCAGCTGACCTTGGAGTCATCATGAGAATTCGTTCTTAGCTGGGGTGCAGTGGTGCGTGCCTGTAGTCCTGGCTACTCAGGAGGC
|
TAGTCTTTTGCTAGTGTTAATTCTGTATCTTTAACCACCTGTAGAGAATGCTACAACTTTAAGGCACCTTTAAGAGAGCAATCTCACAAATTTCAATAATTTTGGATTTTCATTACGTGAATTGACTATTTTGTTTATTCTCTGGAATATGGAGTTTGAAGGCAGGTGACCTTGGGCTGGTTTTCCTTCCCATTGTTTACCATGAACTCTGGGAATTAGGACGAGAACTAGTATGTAAAGAATGTTGGCCCTATGGGAGCAAGTTCCTCATTTCATCTCATCTAAATCCTTACAACAAACTCATGAGACAGCTAGTGTATTTTTTTTTCTCATGTTTGAGATTAAAGAAGAAGATTCTCAGAGTGGTTAAGAGTCCTGTTTAAGGTAACATCACCTAGAAATGGCAAAGCTGGACTTCAAACAGAAGTATTTCCAGACCTACTGGCTCTCTCAATTCTAGAAGCCTTTCTGTTCACAGCATCCTGAATATAGTATATTGGGGAGTGGAAGTCTTGTATGTCACTAGACAGCTTTTTATGATCTCTGTTGTTTTCTGTTGGGCCCAGAACAGATGAAGTAAATGGCAGGATGTTTCTCACACCAGCAGAGGACACTGTCAGCCAACAGAGACAGTGATAGCTGTAGGCTGGGGGCTCAGGAGTTTAGAACCAACCCTAGTCCTGGTGGGTTGCAGGATGGAGCAACCTGTCACCATTGGACAGCTGCCTTAGAAATCTAATTTGTGTATATTGAGTTGTTCAGTATTCAGAAGAGCTCTATATATGGTCCTTTGGTAAATAATAATCTGTGCTACAATTTATTGTTTACTGTGTTCCAGAACTATACTCAGTCCTTTAAGTGCTTTATTTAATCTTGAGGCAACTCTTAGATTGTTACTATTATCCTTCCTTAAAATATGAAGGTCAGGCATGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCGGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAATTAGCCGGGCATGGTAGCACATGACTGTAATCCCAGCTACTTGGAACGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGAAGGTTGCAGTAAGCCGAGATCGTGCCATTGCACTTCAGCCTGGGCAAGAAGAGCAAAACTCCCTCTCAAAAATAAACAAATAAATACATAAGTACAAAAATTAGCGAGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTAAACCCGGGAGGCAGATGTCTCTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTAACAGAGCGAGACTCTATCTCAAAAAAATAAATAAATAAATAAAATATGAGACCTGAGCCCAGATCTGGCTCTGGATCACAAGCGGTTGAATTGCCCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGCGTTCAGTGGCGTGATCTGGGCTCACTGCAACCTCCGCCTCCCGGTTCAAGCGATTCTTGTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGGCCGCCTTGGCCTCCTAAGGTGCTGGGATTGCAGGCATGAGCCACCATGCCCGGCCTGAATCGCCTTTTACAATGCACACGAATATTTTCTAATTTACCTATCAAATGATACTCAGGAGGAGAATACATGTATGCACAACGGATTTTGCAGTTCCCTTCCCCATGGCTGACAGCCAAGGTATCTTTCCTTATTGTGGGGCTCTGGGTACAGGGTGGACTGTACTCAAGCCAGAGCTACCTGTCCTTCTTGTTTCCTCAGGTCTGTAACATTGTGGCTGGGCAGCGCTGTATTAAAAAGCTGACCGACAACCAGACCTCGACCATGATAAAGGCCACAGCTAGATCCGCTCCAGACAGACAGGAGATCAGTCGCCTGGTCAGTGGGCCTACTCATTTGCTCAGTCATTGGGGCCATTGGTAGCATAAATGTTTTAATGCCCCAGCAGGACCTTCCTTCAGGAGAACCCAAGTCTAGATTTGTTGCCTAGGACTGTATAAGGCTGCTTTTGCTTCTTGACCGTATAGCTACTTTGCTTTCTGTCTCTTTTTCTCTCCTGTATTACTTTGCTGTGTTATTCCCTCACTTCCCTCATCTTCCACTTTCTCTCTCTTTTTAGGACTATTCCGTACCAACCCCAGCTTCTCCTTAGGGTTCTCTCCTTGATACCCAGAGGGTGAGCAGTATTGCCAAGCTCCTGTTCTCCTGAGATTGCTCTCTTTTGTCCTGCAGATGAAGAATGCCAGCTACAACTTAGATCCCTACATCCAGGAATTTGGGATCAAAGTGAAGGATGACATGACGGAGGTGACAGGGCGAGTGCTGCCGGCGCCCATCTTGCAGTACGGCGGCCGGGTGAGCAGGGTCAGGGCCAGACAACATCTCGGGGCATATGGGGGTGGTTGGGTTGTATAGCCAGGGGCTTTTGCTCCCCTACCCACCTGACTCTACTGAGGCTCACCTAGGCGCCCCCTCTACCTATCCCCAGAACCGGGCCATTGCCACACCCAATCAGGGTGTCTGGGACATGCGGGGGAAACAGTTCTACAATGGGATTGAGATCAAAGTCTGGGCCATCGCCTGCTTCGCACCCCAAAAACAGTGTCGAGAAGAGGTGCTCAAGTAAGGAGGGTTCGCTGTAGGGGTGGAAGGGTGGGAAGGACCCTGGAGCTGCCTGCCTTCCTGTAGTCCACAGGGGCTGATATTGATCAGTAATGTGTTCTGTCTTGACTCTGCCTGCATTGTGCTTTCTGGCTCAAACTTCTACCAATTCTTTTTCTATCCATCTGTGATCAGGGGAAGTTAATAAGGAGCCATATCTATGTCAAAGATGATGATTTTAGGGCATGAATCTCCTGAGAGAGGCCTGAATTATTGTTATAATTATTATCATTGGTAATAAATAGTAGTAGTGATGACTGTAATGTTTACGCCAAAATTATACTTAAGTACCTAATTTATATTCTCTTATTTCATCTTTACAGTGAGTAGGTGGTGATATGTCCATTTTCAGGAGACTGAGGCTCAAAAGAGGTTAAGTAACTTGTCCAAAGTTTGCACATCATCAGGAAAGTGTCAGAGTTGGAAGCAAATCAGATCTGAGCTTCAAGACTTGTGTTCCTAATTGGAAACAAAATAGAGCAGCTTGTTTAGCTGGTTGTCAGGGCCTCTGTGCCACCGTAGCTGGGAGTAGATGGCACCAATGAGGAAAGTGTTATAGCCAAATGGTTTAAAGAAACCAGGCAGTAATGGCTTAAGAAGTCAACAACCCCTCACCTGGAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCATGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCAGTGTGTTAGCCAGGATGATCTCGATTTCCTGACCTCGTGATCCTCCTGCTTCGGTCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCTTTTTTTTTTTTTAAGTTTTATTGAGATAGGTTTAAAATGCCACAAAACTCAGTTAGTTGTTTCATAGATACAACATACAGTTAGTTGGTTACTGCCATCTTTCGAAGTGGTTGCTTTTCATATTCTCTGAATCTGGAGTGGGGTCAATGCACTCTAGGGATGAGGAGGAGTTGATGGAGCCGACCATTTTGGCTAGACAAGGGTAGTGGGGAAGTATGCCATGACGAATTCAGCTGACCTTGGAGTCATCATGAGAATTCGTTCTTAGCTGGGGTGCAGTGGTGCGTGCCTGTAGTCCTGGCTACTCAGGAGGCNNN
|
pathogenic
| 6,611 |
Gene RSPO1 (R-spondin 1) variant at chromosome 1, position 37612794—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
GTAATTAAAATTAATTTCACCTCATTCCTTTTTATACTGTGGCTACTAGAAAAACATTTTCTTTTTTTATTACTTAATTTTGTTTTGCACACCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGTCTTTGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCTGGCATTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGGTTACAGGCATGAGCCACCGCGCCCGGCCCAAAAATGTTAAATTAAATATGTGGCTCACATATTTCTACTGGACAGCAGCAGTCTGTCTTAAATCCTTCTACCCATCCTTCAGAGTTAGGCTCAAATATCACATCCTCTGAGACACCTCCCTGAGAGAAAGTATTTTATTTTTATTCTGCTTTATTCACTTTCATAGCTAAGCATAGATGCCAGTGGTCACCTGCCCTTGGCACCATCCTTTTGTAGTTATATATGTGTTTGTACAATTCCTTGGTGCATGCCTATTTTCTTCCCCACCAACCTCTAAGCTCCACAAGAGCAAGGCCCGTGTTTGGCTCCTCCCTGGAAACCTAGCACCTAGTCCAGAGCCTGGCACACACTTCAGAATGCCACAAGGAGTTATTCCATCCACTGCCCTGCCTTTGGGCAGGATTGTCCCCAACCATCACTGGAAGCCTACGCACTCCCTTCCCCTGGCAGTGCCACTAGCCCTTCAGTATATAGATTCTGCCTCTCCCAGATGGAAAGTCCTCCTTTATAGCTGACCAGAATCCCTCCTGCTGCAAGATGGCCGGGGCCCTTTCTCCCGTCCTTTAAGGGGAATTACAGCAGCACTTCTCAAATTTGGGTAACATGCCAATCATCAGGAATCTTAAAATTTAGACTCTGGCTCACCAGGTCTGGAATGAGACCTGAGATTCTCATTCCTAACAAGCTGCCCTGTGACAACACTGCTGCCGGGCCATGCTCTGAGTAACAAGGATATAGACAGCCTGTTTACCACCGTCAGAGCAGCCCCTAAGTTTTCTTCCTTGTCTGCATGACCCTCTACTGAGCAGGCTATTTGGGGTCTCTTGAAATTCCCTGTCCCTTCTTGCTCCTACGCATACCTCGCCAAACCCTCACACCCTGCAAAGGAATGTGGTGCCTGTGTCTACTGCTGTCGTTGATTTTTTTGTTTTAATTTGAAATAAACCTTTAAGCAGTTTTCAAAGTCAGGTTAACCCTGATATGTATCCTGGAAGGGTAACAATACTCTCCAACGATAAAGTCACACAGCTGGGAGTGCTGAACAGGATGGGAAGAAGGTTTCTTCCCAGGTCACCAGCAGTCCTCAAGCTTGGCTCCCATCTGCCACAGTGGCTGGTCCGATCCCAGCAGCTTCTCCAGAAGGCTCCCCTCTGCAGTTTGGTCTCAGATGCTGGGAAGTGTTGTCTCTGACATGTCCACTGGGAGCTCTGGAAACCAAGTGTGTACTGCTGGGCCCGAGGGATGGAAGTGTCTTCTGGTGGCCTCAGGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGGTGTCTGTGTCTGCGTGTGTACATGAACACACATGTGCAAGTATGTATGGTTGTATATGTGGACAGGGGTTTGAGCGTGTGTGTCTTGTGTCTATGTATGCATGGATGGATTGGAGTGTGTGTGTATGCTTTGCCCCCGACGTTCCAGTTCAGGAAAGCTTGAATCACGCAGAGTAGCACTGAACTCTTTCTGCATGGGCCTGGAGGCTGGACAGTGTCCCTAGGCAGGCCCTGCAGATGTGAGTGGCCCCACTGTCCCTTGCTGCTGCTGCTGTTGCTGCCCCTTGCGTCTTCGAGAGCCAGCACCCGCCTCCTTGCTCTCCTTCCTGGCCAGGTTCCTGTTGGCATTCTCCCGCCGGCCCTGGCCTCCCTTCCTCCTCTTCTGCCCTGAAACAACCAAACAGCAGGAAGAATCAACAAAGGATGTGCAGGGAGGCCCTGGGCATGGCCACAGGCCCTAGGAGGGGAGTGTGAGGAAGCCGGAAGGGGAGGCAGGGAGGAGGCTGGAGATGCTGCCTCTAGGTAGTTGGGTCATCGTGACCTCCTCTGACAGCAGCCACTTCAGAGGACCCCGAGGCTTGAGTACTGGGAGGCAGCCCAAGAGCCCTTTCACTCCCCAACCCTCAAGGCACACAAGACATCATCCTCTTCCTCATGGATTCCTCAGACCTTGGATCCCAATGGACCAAGAGCACTTCCCAGGTATTCAGTGCAACTCTCAGAACAGGCAGGACTGCCCCCATCCCCTATCCGCCACCAGCCACCTCTGGGGCCAGGCAAGAGCAGCAGCCAACCCCTTGCCAACTGCAGGCTGTGTGACTTTGGTGGAATCACTACACCCCTCTGGGTCTTAGTGCCCCTTTTCACCCACCCATCCTGCCTCCGAGGGGCCTTCTAGTATGAACATCCACTAGCTCAGAAGAAATGGGGGAACCGGAAGGATGTTGACCACAGAAGCTTCCAGCTTCCACTATGCAGAGTTCTGAGGCCCTGTTCTCTGCCAGGACATGGCATCTGGATTGGACAGCATGAGGTCTTGAGTTGCGGGTGCCCCATCTGGCCTTGCCCTGAAGCTTCTTCCTGAGCCGTGGGCAGGAAGCAGAGGTGGCAGGACCTGTCATGGCTGGTGCCTGAGCCCTGACCCCAGGGAGGCAGAGGCTGCAGCTCACCCTCAGGACACGGCACTCTCCTCACTGTGCACCTCCGGGTCTCCTTGGTGTCAGAGCAGGCAGCATGGTCCCCCACAGGGGCATGTAGCACCCTGCGTGTCCGCTCCTCGGAGCCCCTCCGGAAACCACAGAGCTGCTGCTTCTTGGAGCAGGGCCCCCACGGAGACCACTCGCTCATTTCACATTGCGCTGGCAGGAAGAGAAGGGAAGGGAGAGAAGGACAAGGAGGAGGGGATCATGTCTCCTCCTCTGGCCCAGAATAGCCCAGGGGAGCATCTCCCACTTTCCTTCTGCCTGGACCTGAGGCTGCAGGTATCTTTAGTCCAGAGGGCAGAAAAGTCCTTGGAGACTCAGAAAGGAGTGGTAGGGTAAGCTCTCCCTGCACAGTGCCCCAGCCCACCCGCTCTCTTGCCAGACCCTTACCCGGCCCCTCCTTCTGGGGTCCTGGACCCTCTGCCCACAGTGCCTGCCATGGCTTACCAGGACTACTGCACTCCATGGTGCCATTGGCAGCTGAGGAGCCCTCGGGACAAGCTGGATAGCAGCGGCCCTTGTGCAGGTACAAGCCCTCCTTACACTTGGTGCAGAAGTTATGGCTGAAGCAGGCCTCACAGTGCTCGATCTTGCATTCTGAGGAGAGGACAGATTGGGGGCTTCTGGCCCAGCCTGGTGAGAATGTTTCCCCTCATCCCCAGCCCCAATACCCTCCCTTCTGTCCACACCCACCTACATGGAGGGCAGGACCCTGGCCTAGAGCTGCAGGTACTGCAGAGGAATCTTGGGAGGAAAGGGAAAGGAAGGGCAGTGGCAGGCCAGGGAAGAAGAAGCTGAAGCGGTTGCTCCTGAAGGCTGGCTGGGACTCTTGCCACCATCAGCCAACTCGATCATGAACCCAGTCTCAGTCCCTGCAGCCCAAGGTGAGGCTCAAGAGAGCAGTTTCAGAGGCGGAGGGTGGGGCCGTCTGGGCCTGGTGGGGGTGGGACAGGAGAGTTTCAGCATCTCACAGCATCCAGAGGGCCACCCTAAACAGAGTTGAACTGAGGGACAGAATGGCCCCCCAGAGAGTGGCTGCATGATCTCTTCTTCCCTCATTGCTGGGCATCTGCAATGTCCCAAACTGTGGTTCTCCTCCTGCCTG
|
GTAATTAAAATTAATTTCACCTCATTCCTTTTTATACTGTGGCTACTAGAAAAACATTTTCTTTTTTTATTACTTAATTTTGTTTTGCACACCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGTCTTTGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCTGGCATTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGGTTACAGGCATGAGCCACCGCGCCCGGCCCAAAAATGTTAAATTAAATATGTGGCTCACATATTTCTACTGGACAGCAGCAGTCTGTCTTAAATCCTTCTACCCATCCTTCAGAGTTAGGCTCAAATATCACATCCTCTGAGACACCTCCCTGAGAGAAAGTATTTTATTTTTATTCTGCTTTATTCACTTTCATAGCTAAGCATAGATGCCAGTGGTCACCTGCCCTTGGCACCATCCTTTTGTAGTTATATATGTGTTTGTACAATTCCTTGGTGCATGCCTATTTTCTTCCCCACCAACCTCTAAGCTCCACAAGAGCAAGGCCCGTGTTTGGCTCCTCCCTGGAAACCTAGCACCTAGTCCAGAGCCTGGCACACACTTCAGAATGCCACAAGGAGTTATTCCATCCACTGCCCTGCCTTTGGGCAGGATTGTCCCCAACCATCACTGGAAGCCTACGCACTCCCTTCCCCTGGCAGTGCCACTAGCCCTTCAGTATATAGATTCTGCCTCTCCCAGATGGAAAGTCCTCCTTTATAGCTGACCAGAATCCCTCCTGCTGCAAGATGGCCGGGGCCCTTTCTCCCGTCCTTTAAGGGGAATTACAGCAGCACTTCTCAAATTTGGGTAACATGCCAATCATCAGGAATCTTAAAATTTAGACTCTGGCTCACCAGGTCTGGAATGAGACCTGAGATTCTCATTCCTAACAAGCTGCCCTGTGACAACACTGCTGCCGGGCCATGCTCTGAGTAACAAGGATATAGACAGCCTGTTTACCACCGTCAGAGCAGCCCCTAAGTTTTCTTCCTTGTCTGCATGACCCTCTACTGAGCAGGCTATTTGGGGTCTCTTGAAATTCCCTGTCCCTTCTTGCTCCTACGCATACCTCGCCAAACCCTCACACCCTGCAAAGGAATGTGGTGCCTGTGTCTACTGCTGTCGTTGATTTTTTTGTTTTAATTTGAAATAAACCTTTAAGCAGTTTTCAAAGTCAGGTTAACCCTGATATGTATCCTGGAAGGGTAACAATACTCTCCAACGATAAAGTCACACAGCTGGGAGTGCTGAACAGGATGGGAAGAAGGTTTCTTCCCAGGTCACCAGCAGTCCTCAAGCTTGGCTCCCATCTGCCACAGTGGCTGGTCCGATCCCAGCAGCTTCTCCAGAAGGCTCCCCTCTGCAGTTTGGTCTCAGATGCTGGGAAGTGTTGTCTCTGACATGTCCACTGGGAGCTCTGGAAACCAAGTGTGTACTGCTGGGCCCGAGGGATGGAAGTGTCTTCTGGTGGCCTCAGGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGGTGTCTGTGTCTGCGTGTGTACATGAACACACATGTGCAAGTATGTATGGTTGTATATGTGGACAGGGGTTTGAGCGTGTGTGTCTTGTGTCTATGTATGCATGGATGGATTGGAGTGTGTGTGTATGCTTTGCCCCCGACGTTCCAGTTCAGGAAAGCTTGAATCACGCAGAGTAGCACTGAACTCTTTCTGCATGGGCCTGGAGGCTGGACAGTGTCCCTAGGCAGGCCCTGCAGATGTGAGTGGCCCCACTGTCCCTTGCTGCTGCTGCTGCTGTTGCTGCCCCTTGCGTCTTCGAGAGCCAGCACCCGCCTCCTTGCTCTCCTTCCTGGCCAGGTTCCTGTTGGCATTCTCCCGCCGGCCCTGGCCTCCCTTCCTCCTCTTCTGCCCTGAAACAACCAAACAGCAGGAAGAATCAACAAAGGATGTGCAGGGAGGCCCTGGGCATGGCCACAGGCCCTAGGAGGGGAGTGTGAGGAAGCCGGAAGGGGAGGCAGGGAGGAGGCTGGAGATGCTGCCTCTAGGTAGTTGGGTCATCGTGACCTCCTCTGACAGCAGCCACTTCAGAGGACCCCGAGGCTTGAGTACTGGGAGGCAGCCCAAGAGCCCTTTCACTCCCCAACCCTCAAGGCACACAAGACATCATCCTCTTCCTCATGGATTCCTCAGACCTTGGATCCCAATGGACCAAGAGCACTTCCCAGGTATTCAGTGCAACTCTCAGAACAGGCAGGACTGCCCCCATCCCCTATCCGCCACCAGCCACCTCTGGGGCCAGGCAAGAGCAGCAGCCAACCCCTTGCCAACTGCAGGCTGTGTGACTTTGGTGGAATCACTACACCCCTCTGGGTCTTAGTGCCCCTTTTCACCCACCCATCCTGCCTCCGAGGGGCCTTCTAGTATGAACATCCACTAGCTCAGAAGAAATGGGGGAACCGGAAGGATGTTGACCACAGAAGCTTCCAGCTTCCACTATGCAGAGTTCTGAGGCCCTGTTCTCTGCCAGGACATGGCATCTGGATTGGACAGCATGAGGTCTTGAGTTGCGGGTGCCCCATCTGGCCTTGCCCTGAAGCTTCTTCCTGAGCCGTGGGCAGGAAGCAGAGGTGGCAGGACCTGTCATGGCTGGTGCCTGAGCCCTGACCCCAGGGAGGCAGAGGCTGCAGCTCACCCTCAGGACACGGCACTCTCCTCACTGTGCACCTCCGGGTCTCCTTGGTGTCAGAGCAGGCAGCATGGTCCCCCACAGGGGCATGTAGCACCCTGCGTGTCCGCTCCTCGGAGCCCCTCCGGAAACCACAGAGCTGCTGCTTCTTGGAGCAGGGCCCCCACGGAGACCACTCGCTCATTTCACATTGCGCTGGCAGGAAGAGAAGGGAAGGGAGAGAAGGACAAGGAGGAGGGGATCATGTCTCCTCCTCTGGCCCAGAATAGCCCAGGGGAGCATCTCCCACTTTCCTTCTGCCTGGACCTGAGGCTGCAGGTATCTTTAGTCCAGAGGGCAGAAAAGTCCTTGGAGACTCAGAAAGGAGTGGTAGGGTAAGCTCTCCCTGCACAGTGCCCCAGCCCACCCGCTCTCTTGCCAGACCCTTACCCGGCCCCTCCTTCTGGGGTCCTGGACCCTCTGCCCACAGTGCCTGCCATGGCTTACCAGGACTACTGCACTCCATGGTGCCATTGGCAGCTGAGGAGCCCTCGGGACAAGCTGGATAGCAGCGGCCCTTGTGCAGGTACAAGCCCTCCTTACACTTGGTGCAGAAGTTATGGCTGAAGCAGGCCTCACAGTGCTCGATCTTGCATTCTGAGGAGAGGACAGATTGGGGGCTTCTGGCCCAGCCTGGTGAGAATGTTTCCCCTCATCCCCAGCCCCAATACCCTCCCTTCTGTCCACACCCACCTACATGGAGGGCAGGACCCTGGCCTAGAGCTGCAGGTACTGCAGAGGAATCTTGGGAGGAAAGGGAAAGGAAGGGCAGTGGCAGGCCAGGGAAGAAGAAGCTGAAGCGGTTGCTCCTGAAGGCTGGCTGGGACTCTTGCCACCATCAGCCAACTCGATCATGAACCCAGTCTCAGTCCCTGCAGCCCAAGGTGAGGCTCAAGAGAGCAGTTTCAGAGGCGGAGGGTGGGGCCGTCTGGGCCTGGTGGGGGTGGGACAGGAGAGTTTCAGCATCTCACAGCATCCAGAGGGCCACCCTAAACAGAGTTGAACTGAGGGACAGAATGGCCCCCCAGAGAGTGGCTGCATGATCTCTTCTTCCCTCATTGCTGGGCATCTGCAATGTCCCAAACTGTGGTTCTCCTCCTGC
|
benign
| 6,714 |
Mutation at chromosome 1, position 39084245, within MACF1 (microtubule actin crosslinking factor 1): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
CCGAGGGTCGGGCGGGAGCCCGGAGGTCAAACAAGTGTTTGTGAGGGGCCGGAGATTGACGGGGTAGAGCCCAGAAGGGACGCTTTCTCCGGGAGGAGGCCTTGGGAGAGCCGGCCTTTGTAGTGAAATGGGCGTCTTGGAGAGGAATGGGCGGTTCTGGGATGAAGCAGGTGGTCTGAGAGGAGGGGCATTTTTCCTGCCCCCGAGCTGAGGGTAGGGATGGAAGCTTGGCCTGAGTTTCCCAGAGGTTGAGGCTGTCACTTCAGCACCTGCCCTGGCACTAGAAGGTAATGGGAGGAGGGGTAAGTGCTAAGATAAAGGGCAAAGCTGTGCCAGGACCTGGGTCCTTTCCTTTCTGCTTCCTGTGGCTAGATCCCTTCTAGATGTTCTTTGGGAAGAGGGCTCACACGCTGCTGGCACAAGGGGTGCCCTGGCAGGGAGGCTCTGCTGCCCGAGGCTGCCTACAGGCCTCCTACACCATTTTTATGTTTCTTTTGTTATCTCTTTGAATTCTGTGCCTATGGTGGGGATCTGCCAATGACCCAGGAGGCTGTCTCTGCCCCTTGCTGCCTCTAGGCTCAGATTCGAGAATCCTGGAGGAGCTGTGGCCACAGACCCATTGTGTCCAGCCATGTAGGCTACCTCGCTGTCTCTACACAGCCCTGTGAGCCGGTATTCCCTATAAGGGAAAATCAACAGCTCTTGCCCTCCCTGGACCCTACAGCCAAAGTCAAAGCTGGGTACCCAGGTTGGCTTTGCGGCCTGTAGGAAGGCTGGTAGCTGAAGGCACATACCATTTGTGCTCTGATGGAGCCCTTGGGGTGGTGGGCCATGTGTAGCAGATGGTTCTGGGAAGTGAGCTTGACCTGGCTGAGGGAAGGCTGCCCAGTCTGGCTGGTGGAGCCCAGCTGGCCTTAGAGCAATTGTATTTTCACTCAACTCTCTCCACTAGCTAAACTGACCAGAAAAAATGGGCTTTCTGTCCCATCCCCCCACCCCATCCTCATGCTGTGCCACGTATTCCCACAACAGCCCTTGGAATAAGCAAATGAACATTTAATCTAATGCCTGCTGGGTGCCATGCATGGCATCAACCAGTACTACATTTGCATTTGACAATGTTCTTAAAACATCCTCTGAGGTGGAATATTACCCCCATTTTGCAGATGAAGAAACTGAGTCTCAGAGAGGTGAAGTGACTTGCCCAAGATCACAGCAATTGTAAGTGGCCAAACCAGAATATATACCCAGGTCTGTCTTACTTCAAGTCTGGTACATTTTCTAATATATCTGCTGGAGACAGAGTGGGAGAAACCAGAGAATTTCTGCCTATTCTAGCCCATGGTTTGCTTCTTGCCTGCTATTGAGATCATGCTTTAGCTTTTTGAAAATACTTCCCATCTGTTGCCCCACTTTATCCTTATAGCATTCCTGGGAGGTAAGTAGAACAGGAATATAATAATAGATACTGTGTATTGAGTGCTTACTGGGCAGTGGGCACTATTAAGCACTTTACATGCAGGATTAAGCACTTTACATGCAGAACCCAACCCTATAGGGCTAGGTTCTAACTGTCGTCATCCCCATTTTGTAGATGAGGGTGCTGAGGCTCAGAGAGATTAAATGGCTTCTCCAGGGTCACACAGCTAGTAAATGGAGTAGAATTTAAACCCACAGCATTCTGTCATGGGATCTGTGAGCTTAATCCTCCAAATGTGCCAAATAGCAATAATAATAGTTCCTAGGAATAGGAGCTAACTTTTACATGATGCTTTAAGATTTATAGACATCATCACATATAATATCCCCCAAACCTCATGAATTAGTTTTGGGATGTATTGTCTTCATCCCATTTTCCAGGTGAAGAAACTGAGGTACAGATAGGCAGGACTAGAACCTCTGCTTCCCAAGTCCCAGTGTTCCTTATGGGACCCCTTTTGTCTGCTCACATTCACCCCTTTCTCCTTCAGATCACTTCTCCCTGGGCTCCCAGGCCCTCCTGCAGCAGCCCCCGCCTGGGCCATGTCTTCCTCAGATGAAGAGACGCTCAGTGAGCGGTCATGTCGGAGTGAGCGGTCTTGTCGGAGTGAGCGATCTTACAGGAGCGAGCGGTCGGGGAGCCTGTCTCCCTGTCCCCCAGGGGACACCTTGCCCTGGAACCTGCCACTGCATGAGCAGAAAAAGCGGAAAAGCCAGGATTCGGTGCTGGACCCTGCAGAGCGTGCTGTGGTCAGAGTCGCTGGTAAGAGAGGTCCCCCAGCAGGCTGGACGCTGTGGGTGTGAGGGAGGAATGGGCCAGGGCACAGCAGCTGTGTGGGGAGCCGAGGGGTCCTCACCAGGGCCTCTGACAAAGCAGCCATCATCTGATTTGTTATTATTATTCTTGGAAAGACGTTGAAATAACATTAACGAAAAACTCAAAAGAGGAAAATCTGCCACCCCTTGCTCACGTGAGACCTGTTTTCATTTCTGCACCTTCTTCCCTGTCTTTGTCCCCATTCAGTTATATTTTCTATGCAGTTGCCTTCATGGCTTAGGTACCATTCTGCATCTGACTCTTTTCAGTTAATCTTATATTAAAAAGATTTTCCATATTGCACTTTAGACTTTATGGTTACCATTTCTAAAAGCTGTCTATTTCATGACTTTCTAAATCCTACTCTTTTTTCACTTTTTGGCTATATTAGACAATGCTGCTGAGAACATGGTTAAGAATGATTTGACTTCTGTTATTTCCTTATAATGAAATCCTTGGAGAGTACAGTTTTACTTGTATCGCCTTCCAAAAGTGTTCTACATGCTGACCTTTCACACGACGTGAAGGCTGGGGCTACCTCCTGTGGTGGGATGTGCCCAGCTCTTTGCCAAGCAGCAGCACAGTGCTGTAGTTATGAGTGTAAGCTTTGGAATCAGAGAGGGTAGGGTGCTGGATCGTGGCCCTGCCACTGACCAACTGTGTGACTCTGGGCAAGTCCCTTATTCTTTCTCAGTGTCACTTTCCTTGTCTTAAGAATGCCCACTGTGCAGGGATGCCTTGAAGGTTAGATGAAATAATGTGTGGAAAGCCCTTAGCACAGTTTTTGGCTCAATAAAGGAGATGCTTCCACTGAAGGCATCCACAGCTGCCTCCCTGAAGTGTGCTCAGCATCTCAGCAGGGTGTTGGTGTTACAGTACGGATAGGAAGATAGAGCAGTGCCTGCAGCTAATTCAGTGACATCACCCGCTTTCAAGCCGTCACCAAGGCCTGTACTGCTACCTTCTTTGTGTCCCTCAAATAATACAGCCACCCCCTCCACTGTGTCATCTCTCACCTGGACCTTCCAATGAGCATTTAATAGCTCTTCCTCTCTTAGTCTTGCCACCATCCTCCACGTGACTAATAGAGTATTTTTTTCTAAAATACAAACCTCAAGAACACATATTCTATTTTATGAAATGAAGTGCTGCCTGTACAACACTTCATTAAAAATACAATAAAAAATAAAATAAAATACAAACCTAATTCTATTACTCGGCTGCTTAAAAACCACCTTTGGCCCCTCATTGCCTGTGGAATCAAGGCTTCAGCATAAAGACCCATCAAAATTACTTACCTCTTCAGCTTCACCTGCCACCACCTCTACCCCCAATCACCCTGCCACAGTACACTGTAACTGGACCCCCAGAGGGATGCATCTTGCAGGATGAAACCACCACACTTTAATTTTCTTCTCTGCAAGATGCTGGTAAACCCTCCTCCTCTTTTAAGTGCCGCCTCCTCTGTCCTTAATGCCCCCAGTGGTATCCAAAGCTTCCTCCTCCGCTCTCACAGTCATACTTTTCTCTCCTCCATGTTCCCTTGTTCAATGTAGCAGTTAACCCACAGGGTGCCCATCACTCCCTTAGAAGAGTGAGCAATTTGGGATGTGTCTTATGTTTTGAGCCCCCGAGGGCTGCACGGGGCCTTGTACATGCTAGAGATCAATTGGTATTGAATGACTGAATGAATGCTGAATGAGTGTTTTGAGGATATTATGTGATGTGACAGACTGTGATCCAGAAACAGGCACTGAGCTATAACGGAAAGTTAGAGAAAGGCTTATGTGGGCTCAGGTA
|
CCGAGGGTCGGGCGGGAGCCCGGAGGTCAAACAAGTGTTTGTGAGGGGCCGGAGATTGACGGGGTAGAGCCCAGAAGGGACGCTTTCTCCGGGAGGAGGCCTTGGGAGAGCCGGCCTTTGTAGTGAAATGGGCGTCTTGGAGAGGAATGGGCGGTTCTGGGATGAAGCAGGTGGTCTGAGAGGAGGGGCATTTTTCCTGCCCCCGAGCTGAGGGTAGGGATGGAAGCTTGGCCTGAGTTTCCCAGAGGTTGAGGCTGTCACTTCAGCACCTGCCCTGGCACTAGAAGGTAATGGGAGGAGGGGTAAGTGCTAAGATAAAGGGCAAAGCTGTGCCAGGACCTGGGTCCTTTCCTTTCTGCTTCCTGTGGCTAGATCCCTTCTAGATGTTCTTTGGGAAGAGGGCTCACACGCTGCTGGCACAAGGGGTGCCCTGGCAGGGAGGCTCTGCTGCCCGAGGCTGCCTACAGGCCTCCTACACCATTTTTATGTTTCTTTTGTTATCTCTTTGAATTCTGTGCCTATGGTGGGGATCTGCCAATGACCCAGGAGGCTGTCTCTGCCCCTTGCTGCCTCTAGGCTCAGATTCGAGAATCCTGGAGGAGCTGTGGCCACAGACCCATTGTGTCCAGCCATGTAGGCTACCTCGCTGTCTCTACACAGCCCTGTGAGCCGGTATTCCCTATAAGGGAAAATCAACAGCTCTTGCCCTCCCTGGACCCTACAGCCAAAGTCAAAGCTGGGTACCCAGGTTGGCTTTGCGGCCTGTAGGAAGGCTGGTAGCTGAAGGCACATACCATTTGTGCTCTGATGGAGCCCTTGGGGTGGTGGGCCATGTGTAGCAGATGGTTCTGGGAAGTGAGCTTGACCTGGCTGAGGGAAGGCTGCCCAGTCTGGCTGGTGGAGCCCAGCTGGCCTTAGAGCAATTGTATTTTCACTCAACTCTCTCCACTAGCTAAACTGACCAGAAAAAATGGGCTTTCTGTCCCATCCCCCCACCCCATCCTCATGCTGTGCCACGTATTCCCACAACAGCCCTTGGAATAAGCAAATGAACATTTAATCTAATGCCTGCTGGGTGCCATGCATGGCATCAACCAGTACTACATTTGCATTTGACAATGTTCTTAAAACATCCTCTGAGGTGGAATATTACCCCCATTTTGCAGATGAAGAAACTGAGTCTCAGAGAGGTGAAGTGACTTGCCCAAGATCACAGCAATTGTAAGTGGCCAAACCAGAATATATACCCAGGTCTGTCTTACTTCAAGTCTGGTACATTTTCTAATATATCTGCTGGAGACAGAGTGGGAGAAACCAGAGAATTTCTGCCTATTCTAGCCCATGGTTTGCTTCTTGCCTGCTATTGAGATCATGCTTTAGCTTTTTGAAAATACTTCCCATCTGTTGCCCCACTTTATCCTTATAGCATTCCTGGGAGGTAAGTAGAACAGGAATATAATAATAGATACTGTGTATTGAGTGCTTACTGGGCAGTGGGCACTATTAAGCACTTTACATGCAGGATTAAGCACTTTACATGCAGAACCCAACCCTATAGGGCTAGGTTCTAACTGTCGTCATCCCCATTTTGTAGATGAGGGTGCTGAGGCTCAGAGAGATTAAATGGCTTCTCCAGGGTCACACAGCTAGTAAATGGAGTAGAATTTAAACCCACAGCATTCTGTCATGGGATCTGTGAGCTTAATCCTCCAAATGTGCCAAATAGCAATAATAATAGTTCCTAGGAATAGGAGCTAACTTTTACATGATGCTTTAAGATTTATAGACATCATCACATATAATATCCCCCAAACCTCATGAATTAGTTTTGGGATGTATTGTCTTCATCCCATTTTCCAGGTGAAGAAACTGAGGTACAGATAGGCAGGACTAGAACCTCTGCTTCCCAAGTCCCAGTGTTCCTTATGGGACCCCTTTTGTCTGCTCACATTCACCCCTTTCTCCTTCAGATCACTTCTCCCTGGGCTCCCAGGCCCTCCTGCAGCAGCCCCCGCCTGGGCCATGTCTTCCTCAGATGAAGAGACGCTCAGTGAGCGGTCATGTCGGAGTGAGCGGTCATGTCGGAGTGAGCGGTCTTGTCGGAGTGAGCGATCTTACAGGAGCGAGCGGTCGGGGAGCCTGTCTCCCTGTCCCCCAGGGGACACCTTGCCCTGGAACCTGCCACTGCATGAGCAGAAAAAGCGGAAAAGCCAGGATTCGGTGCTGGACCCTGCAGAGCGTGCTGTGGTCAGAGTCGCTGGTAAGAGAGGTCCCCCAGCAGGCTGGACGCTGTGGGTGTGAGGGAGGAATGGGCCAGGGCACAGCAGCTGTGTGGGGAGCCGAGGGGTCCTCACCAGGGCCTCTGACAAAGCAGCCATCATCTGATTTGTTATTATTATTCTTGGAAAGACGTTGAAATAACATTAACGAAAAACTCAAAAGAGGAAAATCTGCCACCCCTTGCTCACGTGAGACCTGTTTTCATTTCTGCACCTTCTTCCCTGTCTTTGTCCCCATTCAGTTATATTTTCTATGCAGTTGCCTTCATGGCTTAGGTACCATTCTGCATCTGACTCTTTTCAGTTAATCTTATATTAAAAAGATTTTCCATATTGCACTTTAGACTTTATGGTTACCATTTCTAAAAGCTGTCTATTTCATGACTTTCTAAATCCTACTCTTTTTTCACTTTTTGGCTATATTAGACAATGCTGCTGAGAACATGGTTAAGAATGATTTGACTTCTGTTATTTCCTTATAATGAAATCCTTGGAGAGTACAGTTTTACTTGTATCGCCTTCCAAAAGTGTTCTACATGCTGACCTTTCACACGACGTGAAGGCTGGGGCTACCTCCTGTGGTGGGATGTGCCCAGCTCTTTGCCAAGCAGCAGCACAGTGCTGTAGTTATGAGTGTAAGCTTTGGAATCAGAGAGGGTAGGGTGCTGGATCGTGGCCCTGCCACTGACCAACTGTGTGACTCTGGGCAAGTCCCTTATTCTTTCTCAGTGTCACTTTCCTTGTCTTAAGAATGCCCACTGTGCAGGGATGCCTTGAAGGTTAGATGAAATAATGTGTGGAAAGCCCTTAGCACAGTTTTTGGCTCAATAAAGGAGATGCTTCCACTGAAGGCATCCACAGCTGCCTCCCTGAAGTGTGCTCAGCATCTCAGCAGGGTGTTGGTGTTACAGTACGGATAGGAAGATAGAGCAGTGCCTGCAGCTAATTCAGTGACATCACCCGCTTTCAAGCCGTCACCAAGGCCTGTACTGCTACCTTCTTTGTGTCCCTCAAATAATACAGCCACCCCCTCCACTGTGTCATCTCTCACCTGGACCTTCCAATGAGCATTTAATAGCTCTTCCTCTCTTAGTCTTGCCACCATCCTCCACGTGACTAATAGAGTATTTTTTTCTAAAATACAAACCTCAAGAACACATATTCTATTTTATGAAATGAAGTGCTGCCTGTACAACACTTCATTAAAAATACAATAAAAAATAAAATAAAATACAAACCTAATTCTATTACTCGGCTGCTTAAAAACCACCTTTGGCCCCTCATTGCCTGTGGAATCAAGGCTTCAGCATAAAGACCCATCAAAATTACTTACCTCTTCAGCTTCACCTGCCACCACCTCTACCCCCAATCACCCTGCCACAGTACACTGTAACTGGACCCCCAGAGGGATGCATCTTGCAGGATGAAACCACCACACTTTAATTTTCTTCTCTGCAAGATGCTGGTAAACCCTCCTCCTCTTTTAAGTGCCGCCTCCTCTGTCCTTAATGCCCCCAGTGGTATCCAAAGCTTCCTCCTCCGCTCTCACAGTCATACTTTTCTCTCCTCCATGTTCCCTTGTTCAATGTAGCAGTTAACCCACAGGGTGCCCATCACTCCCTTAGAAGAGTGAGCAATTTGGGATGTGTCTTATGTTTTGAGCCCCCGAGGGCTGCACGGGGCCTTGTACATGCTAGAGATCAATTGGTATTGAATGACTGAATGAATGCTGAATGAGTGTTTTGAGGATATTATGTGATGTGACAGACTGTGATCCAGAAACAGGCACTGAGCTATAACGGAAAGTTAGAGAAAGG
|
benign
| 6,759 |
Variant at chromosome position 39844617, chromosome 1, gene TRIT1 (tRNA isopentenyltransferase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Combined_oxidative_phosphorylation_deficiency_35']
|
GAAGGAAGTCAAGCTTTAGGGCCACTGTTGCCTGCTATCAACTGCTGACCTGTCACCCCTAAGACAGTTCCCACCTTCTGACTAACTCATACAGATTTATTTTCACTATCCTGTTCTTTTTTCAAGGAAATCTCATCTGGGAACACTGAAAGAGATGGACAACTAGTTTAAATTCTCTTTTATACATATTAAAAACATCATTTTTAAGAGTTTAGAAGCAAGAATAAGTAAGGTAGAGGTTAGAATTAAGAGAAAAGTTTACTTGGGGAAGAAGTCAGCTTTGTTTTCCAGCTAGAGCCTAAGGCAAAAAACGGGCTTCTGGGCTGGCTCTCCATGGCAGCAGGAGATGGGAGTAAGGACTTGACAGATGGCACTACAGAAGGGCTTACACAAGCTAAGCTCACAAAGGCTCACACATGTTGCTTCTCTAAGGCTATCCCTGAAGAACATTCAACAAATCGAACCACTAAGTTTCCTTTAGAAAAAAACAATCAGACACTCTCTTTCTCTTCCCCTTTCATCATTATAAACCAATGACAATCGAGGCTTCTTCTGCTGGTTGGGCAATCACAGCCGTCCCCAGTCTCTGACAATGGAGTTCATTTTGCCAGTTACCAGTTAATAGACCTAATCATCCTATTGGTTGCTTTGGGGAGAAAAATCTACTTCTCTGAGAATCCCATGCAAAACAGTACTCTGAACAGAAGGATCCCAGCTGCTGAGTAAACGACAAGCCCCACTGTGCCTGAAAGCAGCAAACCTTACACCTATTTCTAAATACCATGTAAACTCAAGGCTTGGGGAAGAAGTCCTGGGCTTTGACTGGATGACTACAGAAATCTGAAAATCCAATGATGTGTGTGCAGTGTGACTCTGTGGCAGAGGCAGATCCAGGCTCTAATGCAGGGATAGAGCCTTAGGGTGGGGCTGGCCCTGAGGTGGTGGGGAACTAACCTTCTTTATACATGTGTGACAGGCTTACTTTCACACAGTTTCTCTTAACTTCTTTTTATCACAGTTTTAGCAACTACCACTATGCCAACAATTACCTCAAAAGTTACTGAAGAGATACCACTTTTAAAAACCACACTCAGGAGTAGTAACTCTACTTCCTGCCCCCTCCCAGCTATGCTTCTGCTTCTTCCAGTCTCCTGGATGAGCTGCCTGGCTTCCCTTACACCCTTACTTCCTGATCCCACCCCCACTGAATTATAAACATGAAAGGCCAAGAAACTCCTCCAAGCCAGGACCACAAAGTCAAAGGAGCTCTAGAAAGTTAACTGCAGATCTCTTAGTATAAAATATTAATTCCAGCTGAAGATGGAGAGCATCTGATCTTCCTCTGAATCTCAGAATACAGAGACAAATTCCCAGAAGCCTCCAAGGAATTTGAGCACAGGCTCTTAGAGGAATCTAGCTGTCCCTTTACAAATAAATAGACTCCAGGTTCAATCTGCCAAAGACTCTAAATTTCATGAAGTCAATGTGAACCCACCCTTATAGATTTCTTCATGCCCCTCCCCATACTCTACCTGCCCATTCGCGATCCCCAATGATGATTCGATCACAGAGGTCACACAGGTGATAACTTCTCTTGTTCTCAGCTTCATTGTATGGCATCTTTATTGGAGTGGCTGTAGGCTTGTGGCCCTAAAAGAACAAGGGTGGAAGGGAGTATTCAATTCAAAGAGATCTGGATATAATTCTCTATTAAGGGAAATGGGATTTTCCTAAAATTCCTTTTTCTCAACCCAGAGAGCAGATGGGCTGTATACAGATTTTAGCAACAACCTTTCTGAATGTAAAAGTAGAAAAGCAGTCTCCAGGTATTAAAAAGCAGCCAGCCCTTCTGCTTTATTCTATGGAAAAGAAGGCCTGGTTCTTCAATATAGCAACAAAGGTGTCAGCTAATGAAAGTGCTCTGAAAACCAGAAAATAGAATGTATCATGATTCATAATTACCTGGATGAAACTTTGCACGATTTCAAGAGCAGGTTCAAGAACAGACTCTTCCCACTTCGAGACATCAGATACCTCTAAGCCATAGACAGGGGGGACAATGGGACCAGGTCCTAATGATGACAAAGAAAGGTTGTGAGAGGTCAGCCTCAAACCCAATCTATTCTGCAGCCAGGACTCTGAAATCCTCCAGGGAAATACACAGAGCCAAAGGAGTAAACATTCTGACCATGCTGTTAATTCTAACTAAACATGAACCACAATCCAAGAAAGACCTAGAGGTTTAACTGCTCTGCAGCTAGTAAGACTAGCTACATAATCTGGATACATGGGTGCAGGATCTTCCAGATCAGCCAGAAAACCAGAATAGAGTTAACAGCTCAAGTGACCATTGTGTGAGCTACAACACAAAGACAGCACATCGTAAGAAGAAATAAACTAACAGCTTTAAGTAAGTGCCTATTCTAAGTTCCATATCATCTTACAATGATGGCGATCTGTGGCAAGAGAATTCACAGCTTTCTTTAGGAGCAGATACTAGTCTCGGGTTTGCATATATTCCCTCAGCGGCCTGGGACTCATGAAATGCTCTGAAAGCATGGGCTGGGAACAGAATCATATCAACCAATAAGCCGCAGAATCTGCGAACCAGAAAGAAGTCTTAGAATTGATGTAGTTGAGCAACTTCTTTTAAAAACCTGATCTAGAGGGTATTCAAGAAACACTCCCTGGCAGACACTTTTGAATGAAGATGAGACTGAAGGTAGCAAAGAGTGCAGCTACAGGTATTTCACCCACCTGAGCCAACCATGTTGCAAGAGTTTAGTCTCTGTGGTTAGCTTCCCTGCCTATATACACACTAAACTGCCTTCCACAACTAGGTTAAGTCAGTTGCCTAAAGGCAAAGGAGCATCGCCCATGGGCAAAAACATCAAAGGCCTTCGGATGCCAACGACTGGCAGGTGCTGGCCTTTTGATTGTGCCAACCCCAAATAAGATTCTTCATAAACTGGACTGGGCTGCACCTGCTACCACAGGAAAGGTGAGACTAGGAGGGTGCAGGCAGCATCCACAGCACACCTGGCCTTGGCTAAGCTCTGCACCTGTTTCCAGGCCACTCTACATTTTCCTTTCTCCTCTAAGCCCTTTGTTGGGCTTCTGTGCCCTGTCTAAGCACCTTTCAACAAGTTCTCGGCTCCCAGCTGCTATTTCTGGCTTGGGTCCAAGGCCATGCTGGGGTGGGGAAGTCCCCCTGGCTTCCTGCCAGAACCATATCCCAGCAGACCAGCCCTGGCCAATCACGCACAGCTCCTGATTTACAGGGCAGCTGTGCCTTTCACTCCAGCACCAGGACGATGCCGGCATACACACGAATGAGGAACAGGCATATGACACACTGTGCCATCAACTCCTCCTACCACAGAGATGGAGGAATTATTGTGGTTTTACTACAGGAAGAAGTTCTAAATTATTACCCAAAAGTCTTCTGTTAAAGGCTTATTGTCAGACATGGGGATAAGAGAAGCTGCATTAGAAATTTGTAATACAGCACTGAGCTTCAACTTCAGATGACACTAAGACTTCTATCTACCAGGACATGCAGAGAAAACAGGATAAGTAGAGGAAAGCACAACAAGCCTCTTCACACCAGAACTCCACTGGAGAGCTCAGGCAGAGAGTGGGAGCTGGGAGAAAGAATGTTAGCAGTTTAGTGGTCAACAGCAGGGATCAAGGTATGTATTTTCAGAGGCACCGAGTGGGGCAGAGGCTTCAGCTGGCCCTGTCTGTAATTGAGAGCAGAAGTCTACCAGCAAAAGGTAAACACAAGATGATTCAGAAGCATATTTAAAACATGTCCACAAGATAAAACTGAAGTTTCACTTATGCTTAAATTAATCTCCTTTAGCTCATAACCACATAGTTTTTACCCATGGTCCAATACTAATGCTGTCTTGCTAAAGTTACAGCTAAAGGAAGTAAGAGTAGTATAAAGGAGTGTGGACTCTGTGTCAGGCCTGCATTCAGTTATCTACTGCCGACTAGCTGGGTGATTTTTGGCAAGTTATTTAACTTCACTAGGCCTTCATTTTCTTATCTGTAAAAATAAAAGAATAACACCTACCTTGAAGACTCAATA
|
GAAGGAAGTCAAGCTTTAGGGCCACTGTTGCCTGCTATCAACTGCTGACCTGTCACCCCTAAGACAGTTCCCACCTTCTGACTAACTCATACAGATTTATTTTCACTATCCTGTTCTTTTTTCAAGGAAATCTCATCTGGGAACACTGAAAGAGATGGACAACTAGTTTAAATTCTCTTTTATACATATTAAAAACATCATTTTTAAGAGTTTAGAAGCAAGAATAAGTAAGGTAGAGGTTAGAATTAAGAGAAAAGTTTACTTGGGGAAGAAGTCAGCTTTGTTTTCCAGCTAGAGCCTAAGGCAAAAAACGGGCTTCTGGGCTGGCTCTCCATGGCAGCAGGAGATGGGAGTAAGGACTTGACAGATGGCACTACAGAAGGGCTTACACAAGCTAAGCTCACAAAGGCTCACACATGTTGCTTCTCTAAGGCTATCCCTGAAGAACATTCAACAAATCGAACCACTAAGTTTCCTTTAGAAAAAAACAATCAGACACTCTCTTTCTCTTCCCCTTTCATCATTATAAACCAATGACAATCGAGGCTTCTTCTGCTGGTTGGGCAATCACAGCCGTCCCCAGTCTCTGACAATGGAGTTCATTTTGCCAGTTACCAGTTAATAGACCTAATCATCCTATTGGTTGCTTTGGGGAGAAAAATCTACTTCTCTGAGAATCCCATGCAAAACAGTACTCTGAACAGAAGGATCCCAGCTGCTGAGTAAACGACAAGCCCCACTGTGCCTGAAAGCAGCAAACCTTACACCTATTTCTAAATACCATGTAAACTCAAGGCTTGGGGAAGAAGTCCTGGGCTTTGACTGGATGACTACAGAAATCTGAAAATCCAATGATGTGTGTGCAGTGTGACTCTGTGGCAGAGGCAGATCCAGGCTCTAATGCAGGGATAGAGCCTTAGGGTGGGGCTGGCCCTGAGGTGGTGGGGAACTAACCTTCTTTATACATGTGTGACAGGCTTACTTTCACACAGTTTCTCTTAACTTCTTTTTATCACAGTTTTAGCAACTACCACTATGCCAACAATTACCTCAAAAGTTACTGAAGAGATACCACTTTTAAAAACCACACTCAGGAGTAGTAACTCTACTTCCTGCCCCCTCCCAGCTATGCTTCTGCTTCTTCCAGTCTCCTGGATGAGCTGCCTGGCTTCCCTTACACCCTTACTTCCTGATCCCACCCCCACTGAATTATAAACATGAAAGGCCAAGAAACTCCTCCAAGCCAGGACCACAAAGTCAAAGGAGCTCTAGAAAGTTAACTGCAGATCTCTTAGTATAAAATATTAATTCCAGCTGAAGATGGAGAGCATCTGATCTTCCTCTGAATCTCAGAATACAGAGACAAATTCCCAGAAGCCTCCAAGGAATTTGAGCACAGGCTCTTAGAGGAATCTAGCTGTCCCTTTACAAATAAATAGACTCCAGGTTCAATCTGCCAAAGACTCTAAATTTCATGAAGTCAATGTGAACCCACCCTTATAGATTTCTTCATGCCCCTCCCCATACTCTACCTGCCCATTCGCGATCCCCAATGATGATTCGATCACAGAGGTCACACAGGTGATAACTTCTCTTGTTCTCAGCTTCATTGTATGGCATCTTTATTGGAGTGGCTGTAGGCTTGTGGCCCTAAAAGAACAAGGGTGGAAGGGAGTATTCAATTCAAAGAGATCTGGATATAATTCTCTATTAAGGGAAATGGGATTTTCCTAAAATTCCTTTTTCTCAACCCAGAGAGCAGATGGGCTGTATACAGATTTTAGCAACAACCTTTCTGAATGTAAAAGTAGAAAAGCAGTCTCCAGGTATTAAAAAGCAGCCAGCCCTTCTGCTTTATTCTATGGAAAAGAAGGCCTGGTTCTTCAATATAGCAACAAAGGTGTCAGCTAATGAAAGTGCTCTGAAAACCAGAAAATAGAATGTATCATGATTCATAATTACCTGGATGAAACTTTGCACGATTTCAAGAGCAGGTTCAAGAACAGACTCTTCCCACTTCGAGACATCAGATACCTCTAAGCCATAGACGGGGGGACAATGGGACCAGGTCCTAATGATGACAAAGAAAGGTTGTGAGAGGTCAGCCTCAAACCCAATCTATTCTGCAGCCAGGACTCTGAAATCCTCCAGGGAAATACACAGAGCCAAAGGAGTAAACATTCTGACCATGCTGTTAATTCTAACTAAACATGAACCACAATCCAAGAAAGACCTAGAGGTTTAACTGCTCTGCAGCTAGTAAGACTAGCTACATAATCTGGATACATGGGTGCAGGATCTTCCAGATCAGCCAGAAAACCAGAATAGAGTTAACAGCTCAAGTGACCATTGTGTGAGCTACAACACAAAGACAGCACATCGTAAGAAGAAATAAACTAACAGCTTTAAGTAAGTGCCTATTCTAAGTTCCATATCATCTTACAATGATGGCGATCTGTGGCAAGAGAATTCACAGCTTTCTTTAGGAGCAGATACTAGTCTCGGGTTTGCATATATTCCCTCAGCGGCCTGGGACTCATGAAATGCTCTGAAAGCATGGGCTGGGAACAGAATCATATCAACCAATAAGCCGCAGAATCTGCGAACCAGAAAGAAGTCTTAGAATTGATGTAGTTGAGCAACTTCTTTTAAAAACCTGATCTAGAGGGTATTCAAGAAACACTCCCTGGCAGACACTTTTGAATGAAGATGAGACTGAAGGTAGCAAAGAGTGCAGCTACAGGTATTTCACCCACCTGAGCCAACCATGTTGCAAGAGTTTAGTCTCTGTGGTTAGCTTCCCTGCCTATATACACACTAAACTGCCTTCCACAACTAGGTTAAGTCAGTTGCCTAAAGGCAAAGGAGCATCGCCCATGGGCAAAAACATCAAAGGCCTTCGGATGCCAACGACTGGCAGGTGCTGGCCTTTTGATTGTGCCAACCCCAAATAAGATTCTTCATAAACTGGACTGGGCTGCACCTGCTACCACAGGAAAGGTGAGACTAGGAGGGTGCAGGCAGCATCCACAGCACACCTGGCCTTGGCTAAGCTCTGCACCTGTTTCCAGGCCACTCTACATTTTCCTTTCTCCTCTAAGCCCTTTGTTGGGCTTCTGTGCCCTGTCTAAGCACCTTTCAACAAGTTCTCGGCTCCCAGCTGCTATTTCTGGCTTGGGTCCAAGGCCATGCTGGGGTGGGGAAGTCCCCCTGGCTTCCTGCCAGAACCATATCCCAGCAGACCAGCCCTGGCCAATCACGCACAGCTCCTGATTTACAGGGCAGCTGTGCCTTTCACTCCAGCACCAGGACGATGCCGGCATACACACGAATGAGGAACAGGCATATGACACACTGTGCCATCAACTCCTCCTACCACAGAGATGGAGGAATTATTGTGGTTTTACTACAGGAAGAAGTTCTAAATTATTACCCAAAAGTCTTCTGTTAAAGGCTTATTGTCAGACATGGGGATAAGAGAAGCTGCATTAGAAATTTGTAATACAGCACTGAGCTTCAACTTCAGATGACACTAAGACTTCTATCTACCAGGACATGCAGAGAAAACAGGATAAGTAGAGGAAAGCACAACAAGCCTCTTCACACCAGAACTCCACTGGAGAGCTCAGGCAGAGAGTGGGAGCTGGGAGAAAGAATGTTAGCAGTTTAGTGGTCAACAGCAGGGATCAAGGTATGTATTTTCAGAGGCACCGAGTGGGGCAGAGGCTTCAGCTGGCCCTGTCTGTAATTGAGAGCAGAAGTCTACCAGCAAAAGGTAAACACAAGATGATTCAGAAGCATATTTAAAACATGTCCACAAGATAAAACTGAAGTTTCACTTATGCTTAAATTAATCTCCTTTAGCTCATAACCACATAGTTTTTACCCATGGTCCAATACTAATGCTGTCTTGCTAAAGTTACAGCTAAAGGAAGTAAGAGTAGTATAAAGGAGTGTGGACTCTGTGTCAGGCCTGCATTCAGTTATCTACTGCCGACTAGCTGGGTGATTTTTGGCAAGTTATTTAACTTCACTAGGCCTTCATTTTCTTATCTGTAAAAATAAAAGAATAACACCTACCTTGAAGACTCAATAN
|
pathogenic
| 6,917 |
Is the genetic variant on chromosome 1, position 39852872, gene TRIT1 (tRNA isopentenyltransferase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Inborn_genetic_diseases', 'Mitochondrial_disease']
|
GCATGTTGTACATCCAGCTCATCAGCTTTCTTTTTAAATATGTCAAATTAATGAAGAATGCTCCTGGCTAATCCAGTGCTCTACTGGCACAAAGATCACTGAGAAAAGAACTCACATACTTATTCTTAAGCCACCATCCACTTCTGTCCGTATCTATTATGTTATGCAGCACTAGGTAATTTAACTCCCAAATCTACACTCTACCACTCTGGGTGATTGCAACTTATCAGCCTGAAAGTGATCTTTCTCTTCCTGACCCAATTCTACTTCCTGAAACCCTAACGCAAGAGTGTAGACCCCCTTGTCTTTCAGTATCACTGGTTTCTCAAAGAAGATCTATGAGAAAAAATGTAGTAATAGATATCTCACTTATCTGGAGTTAAAATACAGCCTCAAGCCAAAAGAAAGATTAAAAAAAAAGAAAGTCCTCATTCTCTAAATGAGACTCTAGAGCTCTTGCTTAGAACCTATTGACTCTTACTAAGAAAAAATTCTCAAACTCATTACTCGTTTAGACGCAGCAAAATGAGAAGTGATAAGAAAGAACTGATTAGTAAAAGGAGAGAATAAACACCAAGCTCTAGAATCATGTAATAAAACAATATAAAAATGAATGTTTATCATAATGTTCCTAGGTTTAAAAAAAATTGAATGTTTTCTATTAAAGTGTTTAAAATGTTTGGATACTGAAAAGTATAAACTTCATTAATCTAAAACATGCATTCTTAATGAGGTTATACATTGCCTTTAAGGGGGTGAAAAAACTTAGATATTACAATTTGTGCCCCACCCCCCTGCCGTGCAAAGGACAACCCTACCTGAAGAAATCCTTTTCTTGGCTGAGTACTGTGGCTCATGACTATAATCCCAGCACTTCGGTAGGCTGAGGCAGGAGGATCGCTTGAGCCTAGGAGTTTGGAACCAGCCTGGGCAACACAGCAAAACATCTCTAAAAAAAATTAAAAATTTAAAAAACTAGCCAGGTATAGTAGTGCACACCCGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGGACATCTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGCAACAAAGTAAGACTCTATCTCTTAAAAAAAAAAAAAAAAAGTAATAATAATAATGAATGTTTTAAATCCTATATTCTAACATTAAGTTTCACTGAGGGGGGTAAAATTAGGAGGAAAAATATCAAATTCATTTGAGTGGAATACTTCACAACCCCTATGAATATGAGATGTTACTTTAATATTTAATCTGTATAACCATCAATAGAACAGGTCCTTCATTAGATGTTCTACTATGCTGGAAGTGGTATCACTCCTAATACTGCAGAAAAATAAACCTAACATGAGGCTGCAATTCCAAAACAACCTAAAAAAACATGACCTTGTGAGTTCATTCACTACCTCTCTTCCCTACCAGATAGTTTCCATGTGCAAAGGTGAGCTGATCTGTGAGACAGTTAATAAAATCCACCTCCCACTGGGAAAGCTGCTGGGGCAGAACACGGCATTGCATAATCAGTTATGAAACCCAAATCACAATGTAAACAAACTGCATGCCAGAAAAAATGTATATGAAAACTGTTATACAAGCAAAGATCAAATAGAAAATGAAGCAACATTATATAGGCCCTAGGGGAAAACGATATTGTACTATGCATTTAAAATGTAACAAAGTAGGCTGCAATTATTTATTGAGGGAGTTGAACTGAAGCAATAACTCAGGGCCTCCCAACCTGCTGAGCTAGAACAACACATCAATCTCCACTAACTGCTATTACCAAATCTCTCTCATCATCTGGGCAAACTGAAGAACTGACTGCTCTCTAGTTGTAAAGGAATTTGGGGTCAGCGCGCCAGGCTTTCTTACCTGGCCACTTTGCGTTTGTCATGTGGATGCAGCTTGGCAGCCATTTCTGGGTCCACCTGGCTTAGGCGTTTGTGAAGTACAAGACCATCCTCCTTTTCAAGCTCCACTTTTCGGTCAATCACTTTCTCAGTGCCCATCTCCTGGGGCTATTAAATGATGGTTTAGAAGTATATTTAATTCAACCAACACTGAGACAGTGTATGTGCCAGGCACTTTGCTAACTGTCAGGAATACAGAATAATCAGAAGATCTTGCCATATAGTGAGAGATCATAAACAGAAAATTCCAATATGCTGTGGTAAGTGCTATGAGGCCACAGCAAACAAAAAAGACAGAAGACTTACAGCATAGGGAAACACCTGGCTATTTGCTTCCCTGTCAGAAGTTCAAACAGGTACCAGGGCTAATATGTCTATTTTAGCATATCCAGGAGTCTAGTCTTCTCAGCAAGGGTGAACAAGGAGACCAGGATTGCCAGTGAATTACAGTTTACACAGTCTTACCCTACATAGTAGCACCTACGTAAATAAGGTCAGTGTTGGACATCTCCCTAATATACATACTGTGCTGCCAGCCAGGAAATACTGAATCAGGCTAATGGCTAACGTACTGGGTTTTTTTTAATATAATTTTTCTAAAGAATTATACATATTTTTTTCTTGAATCGCATCTGTTTTTTTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCAAGCCTCAAGTGATCCTCCCACCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTAATGAACTGTTAATTTATATGGAGATGCTAATTAATCCACACAGCAACATTTTTCCCACACAGAGCCCCTTCCCATAGACCAGCCTGGAGGAACACACTTCACACATGGAGGTGGCATTTGCTTGAGAATATTAAGTAGGAAAATTATAGTTGCTGGGTATAAGAAATAGGCAAGAGTCAACCTTTCTCCCACTGAAATTAGACAGCAAGAAAGAGCAATCCATTTCCTCAGTGAGTTACGAGTGAACTAAACTTACCTTGGTATTGACAAGAACTTTCCAGAGCAGAGATTCAATGTAATAATTGGTTCCTCCCACAACAATAGGAATTTTGTCTCGGGCAAATATATCTTCAATGTGAACATTAAGAAAGATATCACGATATCAAGAGAATCCTGACTCACTTTGGAAGGACACCATTAGCAAGAAACCACATTCATTTATCTGCAGAGCAGAGGAGAAAGGGTGGGAACCAAAATGCGTTGATACCAGCCCTCAGTGTTTCCAACAAATTTCCAGAATCATGTCCAATCAGTTCTGGAGGGACTTGCAGAAACCAGAGACAAATGCATAGTGGTAATTCCTTCCAGTTCTAGAACTTTCTAGGTCTTGCTGCTAAAAGTCAAAGTTTTATTAGTATTCCAAATCAGTTCAATAAGCACAAGCCCAAGGACTCTCACAGAACCAAGTGTCAGCTGCTCAGGAGGCCATCAAGGTGACATCCATTGCATGACTTTGCCTTCTAAGGCAAAACACAAGCTGGTTTCTCTAAGGTTCTTAGACTTAGTCAGTCTCTACCATCATGGAGAGACTATCACATTTTGCCACTTGAGGCTTGACCAAATTAAGTGAGATGCACAGGTTCTGAAGATAAATAGACTTCAATTTCCAGGTTCAGCTCTTGGACAATTACTCAGCCTGTCTGAGTTTCAGTTTTCTCACCTGTAAAAATCCCCATGAGCCTTAAATGTGACAATTCATAGAAATCCCCTATCACAATGCCTAAAAAATAGTAAGCACTCAATTTACTATAGCCACTATTGTTTTTTCATCTCTGCTACTTTAAATTTTTCTCTTTAGAATCTCCGTTGAACAGATAATTATCTGCTTTAAGGCGGCCTTTGCTCCTGAGAATAATTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCAAGACTGGAGTGTAGTGGCGCGAAAACAGTTCACTG
|
GCATGTTGTACATCCAGCTCATCAGCTTTCTTTTTAAATATGTCAAATTAATGAAGAATGCTCCTGGCTAATCCAGTGCTCTACTGGCACAAAGATCACTGAGAAAAGAACTCACATACTTATTCTTAAGCCACCATCCACTTCTGTCCGTATCTATTATGTTATGCAGCACTAGGTAATTTAACTCCCAAATCTACACTCTACCACTCTGGGTGATTGCAACTTATCAGCCTGAAAGTGATCTTTCTCTTCCTGACCCAATTCTACTTCCTGAAACCCTAACGCAAGAGTGTAGACCCCCTTGTCTTTCAGTATCACTGGTTTCTCAAAGAAGATCTATGAGAAAAAATGTAGTAATAGATATCTCACTTATCTGGAGTTAAAATACAGCCTCAAGCCAAAAGAAAGATTAAAAAAAAAGAAAGTCCTCATTCTCTAAATGAGACTCTAGAGCTCTTGCTTAGAACCTATTGACTCTTACTAAGAAAAAATTCTCAAACTCATTACTCGTTTAGACGCAGCAAAATGAGAAGTGATAAGAAAGAACTGATTAGTAAAAGGAGAGAATAAACACCAAGCTCTAGAATCATGTAATAAAACAATATAAAAATGAATGTTTATCATAATGTTCCTAGGTTTAAAAAAAATTGAATGTTTTCTATTAAAGTGTTTAAAATGTTTGGATACTGAAAAGTATAAACTTCATTAATCTAAAACATGCATTCTTAATGAGGTTATACATTGCCTTTAAGGGGGTGAAAAAACTTAGATATTACAATTTGTGCCCCACCCCCCTGCCGTGCAAAGGACAACCCTACCTGAAGAAATCCTTTTCTTGGCTGAGTACTGTGGCTCATGACTATAATCCCAGCACTTCGGTAGGCTGAGGCAGGAGGATCGCTTGAGCCTAGGAGTTTGGAACCAGCCTGGGCAACACAGCAAAACATCTCTAAAAAAAATTAAAAATTTAAAAAACTAGCCAGGTATAGTAGTGCACACCCGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGGACATCTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGCAACAAAGTAAGACTCTATCTCTTAAAAAAAAAAAAAAAAAGTAATAATAATAATGAATGTTTTAAATCCTATATTCTAACATTAAGTTTCACTGAGGGGGGTAAAATTAGGAGGAAAAATATCAAATTCATTTGAGTGGAATACTTCACAACCCCTATGAATATGAGATGTTACTTTAATATTTAATCTGTATAACCATCAATAGAACAGGTCCTTCATTAGATGTTCTACTATGCTGGAAGTGGTATCACTCCTAATACTGCAGAAAAATAAACCTAACATGAGGCTGCAATTCCAAAACAACCTAAAAAAACATGACCTTGTGAGTTCATTCACTACCTCTCTTCCCTACCAGATAGTTTCCATGTGCAAAGGTGAGCTGATCTGTGAGACAGTTAATAAAATCCACCTCCCACTGGGAAAGCTGCTGGGGCAGAACACGGCATTGCATAATCAGTTATGAAACCCAAATCACAATGTAAACAAACTGCATGCCAGAAAAAATGTATATGAAAACTGTTATACAAGCAAAGATCAAATAGAAAATGAAGCAACATTATATAGGCCCTAGGGGAAAACGATATTGTACTATGCATTTAAAATGTAACAAAGTAGGCTGCAATTATTTATTGAGGGAGTTGAACTGAAGCAATAACTCAGGGCCTCCCAACCTGCTGAGCTAGAACAACACATCAATCTCCACTAACTGCTATTACCAAATCTCTCTCATCATCTGGGCAAACTGAAGAACTGACTGCTCTCTAGTTGTAAAGGAATTTGGGGTCAGCGCGCCAGGCTTTCTTACCTGGCCACTTTGCGTTTGTCATGTGGATGCAGCTTGGCAGCCATTTCTGGGTCCACCTGGCTTAGGCGTTTGTGAAGTACAAGACCATCCTCCTTTTCAAGCTCCACTTTTCGGTCAATCACTTTCTCAGTGCCCATCTCCTGGGCTATTAAATGATGGTTTAGAAGTATATTTAATTCAACCAACACTGAGACAGTGTATGTGCCAGGCACTTTGCTAACTGTCAGGAATACAGAATAATCAGAAGATCTTGCCATATAGTGAGAGATCATAAACAGAAAATTCCAATATGCTGTGGTAAGTGCTATGAGGCCACAGCAAACAAAAAAGACAGAAGACTTACAGCATAGGGAAACACCTGGCTATTTGCTTCCCTGTCAGAAGTTCAAACAGGTACCAGGGCTAATATGTCTATTTTAGCATATCCAGGAGTCTAGTCTTCTCAGCAAGGGTGAACAAGGAGACCAGGATTGCCAGTGAATTACAGTTTACACAGTCTTACCCTACATAGTAGCACCTACGTAAATAAGGTCAGTGTTGGACATCTCCCTAATATACATACTGTGCTGCCAGCCAGGAAATACTGAATCAGGCTAATGGCTAACGTACTGGGTTTTTTTTAATATAATTTTTCTAAAGAATTATACATATTTTTTTCTTGAATCGCATCTGTTTTTTTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCAAGCCTCAAGTGATCCTCCCACCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTAATGAACTGTTAATTTATATGGAGATGCTAATTAATCCACACAGCAACATTTTTCCCACACAGAGCCCCTTCCCATAGACCAGCCTGGAGGAACACACTTCACACATGGAGGTGGCATTTGCTTGAGAATATTAAGTAGGAAAATTATAGTTGCTGGGTATAAGAAATAGGCAAGAGTCAACCTTTCTCCCACTGAAATTAGACAGCAAGAAAGAGCAATCCATTTCCTCAGTGAGTTACGAGTGAACTAAACTTACCTTGGTATTGACAAGAACTTTCCAGAGCAGAGATTCAATGTAATAATTGGTTCCTCCCACAACAATAGGAATTTTGTCTCGGGCAAATATATCTTCAATGTGAACATTAAGAAAGATATCACGATATCAAGAGAATCCTGACTCACTTTGGAAGGACACCATTAGCAAGAAACCACATTCATTTATCTGCAGAGCAGAGGAGAAAGGGTGGGAACCAAAATGCGTTGATACCAGCCCTCAGTGTTTCCAACAAATTTCCAGAATCATGTCCAATCAGTTCTGGAGGGACTTGCAGAAACCAGAGACAAATGCATAGTGGTAATTCCTTCCAGTTCTAGAACTTTCTAGGTCTTGCTGCTAAAAGTCAAAGTTTTATTAGTATTCCAAATCAGTTCAATAAGCACAAGCCCAAGGACTCTCACAGAACCAAGTGTCAGCTGCTCAGGAGGCCATCAAGGTGACATCCATTGCATGACTTTGCCTTCTAAGGCAAAACACAAGCTGGTTTCTCTAAGGTTCTTAGACTTAGTCAGTCTCTACCATCATGGAGAGACTATCACATTTTGCCACTTGAGGCTTGACCAAATTAAGTGAGATGCACAGGTTCTGAAGATAAATAGACTTCAATTTCCAGGTTCAGCTCTTGGACAATTACTCAGCCTGTCTGAGTTTCAGTTTTCTCACCTGTAAAAATCCCCATGAGCCTTAAATGTGACAATTCATAGAAATCCCCTATCACAATGCCTAAAAAATAGTAAGCACTCAATTTACTATAGCCACTATTGTTTTTTCATCTCTGCTACTTTAAATTTTTCTCTTTAGAATCTCCGTTGAACAGATAATTATCTGCTTTAAGGCGGCCTTTGCTCCTGAGAATAATTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCAAGACTGGAGTGTAGTGGCGCGAAAACAGTTCACTGN
|
pathogenic
| 6,925 |
Is the genetic variant on chromosome 1, position 39854049, gene TRIT1 (tRNA isopentenyltransferase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Combined_oxidative_phosphorylation_deficiency_35', 'Epileptic_encephalopathy', 'TRIT1_Deficiency']
|
CTAACATTAAGTTTCACTGAGGGGGGTAAAATTAGGAGGAAAAATATCAAATTCATTTGAGTGGAATACTTCACAACCCCTATGAATATGAGATGTTACTTTAATATTTAATCTGTATAACCATCAATAGAACAGGTCCTTCATTAGATGTTCTACTATGCTGGAAGTGGTATCACTCCTAATACTGCAGAAAAATAAACCTAACATGAGGCTGCAATTCCAAAACAACCTAAAAAAACATGACCTTGTGAGTTCATTCACTACCTCTCTTCCCTACCAGATAGTTTCCATGTGCAAAGGTGAGCTGATCTGTGAGACAGTTAATAAAATCCACCTCCCACTGGGAAAGCTGCTGGGGCAGAACACGGCATTGCATAATCAGTTATGAAACCCAAATCACAATGTAAACAAACTGCATGCCAGAAAAAATGTATATGAAAACTGTTATACAAGCAAAGATCAAATAGAAAATGAAGCAACATTATATAGGCCCTAGGGGAAAACGATATTGTACTATGCATTTAAAATGTAACAAAGTAGGCTGCAATTATTTATTGAGGGAGTTGAACTGAAGCAATAACTCAGGGCCTCCCAACCTGCTGAGCTAGAACAACACATCAATCTCCACTAACTGCTATTACCAAATCTCTCTCATCATCTGGGCAAACTGAAGAACTGACTGCTCTCTAGTTGTAAAGGAATTTGGGGTCAGCGCGCCAGGCTTTCTTACCTGGCCACTTTGCGTTTGTCATGTGGATGCAGCTTGGCAGCCATTTCTGGGTCCACCTGGCTTAGGCGTTTGTGAAGTACAAGACCATCCTCCTTTTCAAGCTCCACTTTTCGGTCAATCACTTTCTCAGTGCCCATCTCCTGGGGCTATTAAATGATGGTTTAGAAGTATATTTAATTCAACCAACACTGAGACAGTGTATGTGCCAGGCACTTTGCTAACTGTCAGGAATACAGAATAATCAGAAGATCTTGCCATATAGTGAGAGATCATAAACAGAAAATTCCAATATGCTGTGGTAAGTGCTATGAGGCCACAGCAAACAAAAAAGACAGAAGACTTACAGCATAGGGAAACACCTGGCTATTTGCTTCCCTGTCAGAAGTTCAAACAGGTACCAGGGCTAATATGTCTATTTTAGCATATCCAGGAGTCTAGTCTTCTCAGCAAGGGTGAACAAGGAGACCAGGATTGCCAGTGAATTACAGTTTACACAGTCTTACCCTACATAGTAGCACCTACGTAAATAAGGTCAGTGTTGGACATCTCCCTAATATACATACTGTGCTGCCAGCCAGGAAATACTGAATCAGGCTAATGGCTAACGTACTGGGTTTTTTTTAATATAATTTTTCTAAAGAATTATACATATTTTTTTCTTGAATCGCATCTGTTTTTTTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCAAGCCTCAAGTGATCCTCCCACCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTAATGAACTGTTAATTTATATGGAGATGCTAATTAATCCACACAGCAACATTTTTCCCACACAGAGCCCCTTCCCATAGACCAGCCTGGAGGAACACACTTCACACATGGAGGTGGCATTTGCTTGAGAATATTAAGTAGGAAAATTATAGTTGCTGGGTATAAGAAATAGGCAAGAGTCAACCTTTCTCCCACTGAAATTAGACAGCAAGAAAGAGCAATCCATTTCCTCAGTGAGTTACGAGTGAACTAAACTTACCTTGGTATTGACAAGAACTTTCCAGAGCAGAGATTCAATGTAATAATTGGTTCCTCCCACAACAATAGGAATTTTGTCTCGGGCAAATATATCTTCAATGTGAACATTAAGAAAGATATCACGATATCAAGAGAATCCTGACTCACTTTGGAAGGACACCATTAGCAAGAAACCACATTCATTTATCTGCAGAGCAGAGGAGAAAGGGTGGGAACCAAAATGCGTTGATACCAGCCCTCAGTGTTTCCAACAAATTTCCAGAATCATGTCCAATCAGTTCTGGAGGGACTTGCAGAAACCAGAGACAAATGCATAGTGGTAATTCCTTCCAGTTCTAGAACTTTCTAGGTCTTGCTGCTAAAAGTCAAAGTTTTATTAGTATTCCAAATCAGTTCAATAAGCACAAGCCCAAGGACTCTCACAGAACCAAGTGTCAGCTGCTCAGGAGGCCATCAAGGTGACATCCATTGCATGACTTTGCCTTCTAAGGCAAAACACAAGCTGGTTTCTCTAAGGTTCTTAGACTTAGTCAGTCTCTACCATCATGGAGAGACTATCACATTTTGCCACTTGAGGCTTGACCAAATTAAGTGAGATGCACAGGTTCTGAAGATAAATAGACTTCAATTTCCAGGTTCAGCTCTTGGACAATTACTCAGCCTGTCTGAGTTTCAGTTTTCTCACCTGTAAAAATCCCCATGAGCCTTAAATGTGACAATTCATAGAAATCCCCTATCACAATGCCTAAAAAATAGTAAGCACTCAATTTACTATAGCCACTATTGTTTTTTCATCTCTGCTACTTTAAATTTTTCTCTTTAGAATCTCCGTTGAACAGATAATTATCTGCTTTAAGGCGGCCTTTGCTCCTGAGAATAATTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCAAGACTGGAGTGTAGTGGCGCGAAAACAGTTCACTGCAGCCTCAACCTCCCAGGGCTCGAGTCATCCTCCCACCTCAGCTCCCGCCACCAAGTAGCTGGGACTACAAGCACATGCCACCACATCTGGCTAATTTTTGTATTTTTTGTAGAGGTAAGGTTTCACGATGTTACTTGCCCAGGCTGATCTTGAACTCCTGAGCTCAAGCAATCCATCCACTGCAGCATCCCAAAGTGCTGAGGTTACAGGCGATAGCCATCGTGCCTGGCCGAAAATAACTTTTTTTAAAAGACTTTCAATATCCAGGTAAATAATCATTTACACATTTCTCCTTGCCAGCCAATCTGCAGGCATAGAGACAGACCACCTCTTTTCTACTAGAATCCCACTAACCCTTAAGCGGCTAAGGCAGGGTGGGAAGAAAGATGTTACCAATCAAGGATCATAAAGAAAAAACACTGTTTGCTTTAAAAAGAGAAAACAAATTCTCTATTTCCCCCTTTAAATTAAGTATAGGGAGCATACAATTTCCACAGTAAGATAAAATGTCAATTATACACAAGTTAAATATCCCTTATCCAAAATACTTGGGACCAAGGAAATGTTTCAGATTTTGAATTATTTGCATTATACTTACTGGTTGAGCATCCCAAACCTGAAAATCTGAAAACTGAAATGCTCCAATGAGCATTTCCTTTGAGCATCATCTCAGCACTCCAAAAGTTTCAGATTTTGGAGTATTTTGGATTTTAGATTTTCAGATGTTCAACCTGTAGTATGATTAACAAAGGGAAAGTGAGCAAAGAAATGAAAAGGGGAAGGGAAAAATGTTAAGATTCCAGAAGAGGAGAGAGTGGAAAGAGGAAAGAAGATGGGATAGGACATACTTCACGGGAAAAGGTTTAACTTATTTGTGCAAGCCATGAAATGACTGTGATATTGAGCAAACACCCTTCTACTCTTTGGGCCTCAGTATCTAGTACCTTCACCTGTCGAATCAAGAAGGCTGATTGGGGCCAGGCGTGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGTAGGACCACTTGAGCCCAGGGGTTCAAGACCAGCTTGTCAACATAGCAAAATCCATCTCTACAAAAAATAAAATAGCCGGGCATGGTGGCTCATGCCTGTTATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACGAGGTCAG
|
CTAACATTAAGTTTCACTGAGGGGGGTAAAATTAGGAGGAAAAATATCAAATTCATTTGAGTGGAATACTTCACAACCCCTATGAATATGAGATGTTACTTTAATATTTAATCTGTATAACCATCAATAGAACAGGTCCTTCATTAGATGTTCTACTATGCTGGAAGTGGTATCACTCCTAATACTGCAGAAAAATAAACCTAACATGAGGCTGCAATTCCAAAACAACCTAAAAAAACATGACCTTGTGAGTTCATTCACTACCTCTCTTCCCTACCAGATAGTTTCCATGTGCAAAGGTGAGCTGATCTGTGAGACAGTTAATAAAATCCACCTCCCACTGGGAAAGCTGCTGGGGCAGAACACGGCATTGCATAATCAGTTATGAAACCCAAATCACAATGTAAACAAACTGCATGCCAGAAAAAATGTATATGAAAACTGTTATACAAGCAAAGATCAAATAGAAAATGAAGCAACATTATATAGGCCCTAGGGGAAAACGATATTGTACTATGCATTTAAAATGTAACAAAGTAGGCTGCAATTATTTATTGAGGGAGTTGAACTGAAGCAATAACTCAGGGCCTCCCAACCTGCTGAGCTAGAACAACACATCAATCTCCACTAACTGCTATTACCAAATCTCTCTCATCATCTGGGCAAACTGAAGAACTGACTGCTCTCTAGTTGTAAAGGAATTTGGGGTCAGCGCGCCAGGCTTTCTTACCTGGCCACTTTGCGTTTGTCATGTGGATGCAGCTTGGCAGCCATTTCTGGGTCCACCTGGCTTAGGCGTTTGTGAAGTACAAGACCATCCTCCTTTTCAAGCTCCACTTTTCGGTCAATCACTTTCTCAGTGCCCATCTCCTGGGGCTATTAAATGATGGTTTAGAAGTATATTTAATTCAACCAACACTGAGACAGTGTATGTGCCAGGCACTTTGCTAACTGTCAGGAATACAGAATAATCAGAAGATCTTGCCATATAGTGAGAGATCATAAACAGAAAATTCCAATATGCTGTGGTAAGTGCTATGAGGCCACAGCAAACAAAAAAGACAGAAGACTTACAGCATAGGGAAACACCTGGCTATTTGCTTCCCTGTCAGAAGTTCAAACAGGTACCAGGGCTAATATGTCTATTTTAGCATATCCAGGAGTCTAGTCTTCTCAGCAAGGGTGAACAAGGAGACCAGGATTGCCAGTGAATTACAGTTTACACAGTCTTACCCTACATAGTAGCACCTACGTAAATAAGGTCAGTGTTGGACATCTCCCTAATATACATACTGTGCTGCCAGCCAGGAAATACTGAATCAGGCTAATGGCTAACGTACTGGGTTTTTTTTAATATAATTTTTCTAAAGAATTATACATATTTTTTTCTTGAATCGCATCTGTTTTTTTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCAAGCCTCAAGTGATCCTCCCACCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTAATGAACTGTTAATTTATATGGAGATGCTAATTAATCCACACAGCAACATTTTTCCCACACAGAGCCCCTTCCCATAGACCAGCCTGGAGGAACACACTTCACACATGGAGGTGGCATTTGCTTGAGAATATTAAGTAGGAAAATTATAGTTGCTGGGTATAAGAAATAGGCAAGAGTCAACCTTTCTCCCACTGAAATTAGACAGCAAGAAAGAGCAATCCATTTCCTCAGTGAGTTACGAGTGAACTAAACTTACCTTGGTATTGACAAGAACTTTCCAGAGCAGAGATTCAATGTAATAATTGGTTCCTCCCACAACAATAGGAATTTTGTCTCGGCAAATATATCTTCAATGTGAACATTAAGAAAGATATCACGATATCAAGAGAATCCTGACTCACTTTGGAAGGACACCATTAGCAAGAAACCACATTCATTTATCTGCAGAGCAGAGGAGAAAGGGTGGGAACCAAAATGCGTTGATACCAGCCCTCAGTGTTTCCAACAAATTTCCAGAATCATGTCCAATCAGTTCTGGAGGGACTTGCAGAAACCAGAGACAAATGCATAGTGGTAATTCCTTCCAGTTCTAGAACTTTCTAGGTCTTGCTGCTAAAAGTCAAAGTTTTATTAGTATTCCAAATCAGTTCAATAAGCACAAGCCCAAGGACTCTCACAGAACCAAGTGTCAGCTGCTCAGGAGGCCATCAAGGTGACATCCATTGCATGACTTTGCCTTCTAAGGCAAAACACAAGCTGGTTTCTCTAAGGTTCTTAGACTTAGTCAGTCTCTACCATCATGGAGAGACTATCACATTTTGCCACTTGAGGCTTGACCAAATTAAGTGAGATGCACAGGTTCTGAAGATAAATAGACTTCAATTTCCAGGTTCAGCTCTTGGACAATTACTCAGCCTGTCTGAGTTTCAGTTTTCTCACCTGTAAAAATCCCCATGAGCCTTAAATGTGACAATTCATAGAAATCCCCTATCACAATGCCTAAAAAATAGTAAGCACTCAATTTACTATAGCCACTATTGTTTTTTCATCTCTGCTACTTTAAATTTTTCTCTTTAGAATCTCCGTTGAACAGATAATTATCTGCTTTAAGGCGGCCTTTGCTCCTGAGAATAATTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACCAAGACTGGAGTGTAGTGGCGCGAAAACAGTTCACTGCAGCCTCAACCTCCCAGGGCTCGAGTCATCCTCCCACCTCAGCTCCCGCCACCAAGTAGCTGGGACTACAAGCACATGCCACCACATCTGGCTAATTTTTGTATTTTTTGTAGAGGTAAGGTTTCACGATGTTACTTGCCCAGGCTGATCTTGAACTCCTGAGCTCAAGCAATCCATCCACTGCAGCATCCCAAAGTGCTGAGGTTACAGGCGATAGCCATCGTGCCTGGCCGAAAATAACTTTTTTTAAAAGACTTTCAATATCCAGGTAAATAATCATTTACACATTTCTCCTTGCCAGCCAATCTGCAGGCATAGAGACAGACCACCTCTTTTCTACTAGAATCCCACTAACCCTTAAGCGGCTAAGGCAGGGTGGGAAGAAAGATGTTACCAATCAAGGATCATAAAGAAAAAACACTGTTTGCTTTAAAAAGAGAAAACAAATTCTCTATTTCCCCCTTTAAATTAAGTATAGGGAGCATACAATTTCCACAGTAAGATAAAATGTCAATTATACACAAGTTAAATATCCCTTATCCAAAATACTTGGGACCAAGGAAATGTTTCAGATTTTGAATTATTTGCATTATACTTACTGGTTGAGCATCCCAAACCTGAAAATCTGAAAACTGAAATGCTCCAATGAGCATTTCCTTTGAGCATCATCTCAGCACTCCAAAAGTTTCAGATTTTGGAGTATTTTGGATTTTAGATTTTCAGATGTTCAACCTGTAGTATGATTAACAAAGGGAAAGTGAGCAAAGAAATGAAAAGGGGAAGGGAAAAATGTTAAGATTCCAGAAGAGGAGAGAGTGGAAAGAGGAAAGAAGATGGGATAGGACATACTTCACGGGAAAAGGTTTAACTTATTTGTGCAAGCCATGAAATGACTGTGATATTGAGCAAACACCCTTCTACTCTTTGGGCCTCAGTATCTAGTACCTTCACCTGTCGAATCAAGAAGGCTGATTGGGGCCAGGCGTGGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGTAGGACCACTTGAGCCCAGGGGTTCAAGACCAGCTTGTCAACATAGCAAAATCCATCTCTACAAAAAATAAAATAGCCGGGCATGGTGGCTCATGCCTGTTATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACGAGGTCAGN
|
pathogenic
| 6,928 |
Is chromosome 1, position 40073531, gene PPT1 (palmitoyl-protein thioesterase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
CTATGGAACGGGCAGAAGTTGGTCACCACAGTGACAGAAATTGCTGGATAAGCGAAGTGCCACTGGGTTCTTTGCCCTCCCTTCACACCATGGGATAAATCTGTATCAAGACGGTTCTTTTCTAGATTTCCTCTACCTTTTTGCTCTTAAAACTGCTTCTCTGCTCTGAGAAGCACAGCTACCTGCCTTCACTGAAATATACCTCAGGCTGAAATTTGGGGTGGGATAGCAGGTCAGTTGATCTTCTGCAGGAAGGTGCAGCTTTTCCATATCAGCTCAACCACGCCGCCAGTCCATTCTTAAGGAACTGCCGACTAGGACTGATGATGCATTTTAGCTTTGAGCTTTTGGGGGTTATTCTACCAACAAACAGTCCATTGGAAAGAAAACAGTCCCTGGAATTAACAGATCAGAATGTTCACACTGGTTAATCTTTTTTTAACAATGAGCATGAAGGTAGCAGAAGCTGGTGTGTTTCCAGATGGTTCTTCTAACCAAACTAATTTTTCACTGTTGACAAGCGAGGCAAGGGTTGCACTGGACCAAAGGCTGAGGCTTGGCCATCTAGCATTCCATACAAAATTGTTTCCTATAAGCATTCCTTTTATTCTCTATTCTATCCTGGGTCTGCCTCAACCGTGAGATAGGAGAGTCTCTGGTACTAGCTGCTGTAGCAGTGCCCTTCATCCAGGGCAGTTAATGGAGTCTTGGACCCTTTCTTTCTCTGGGATCCCTGCCCAGCACCTTCCTATAGAGATGACTTTAAAAGGAAAAAAAAAAAAAAAAAAACCCACATGATTTCAAGGAGTCTGGCATTCCTGAATCCTTCTTCCCTGCCAGGTGCCTGTCACCTGTCTTCACTGCCTCCTTTTCCCTGTCATGCTCATCAGCTTATGGCTTCTGTCTAAGCACCTGAACAGAGGACTGAAACCTCCACTGCAGGCTGGTTTTAGGTCTTGAATTATGTAAGAATCTTGCACAGCACTGCTAATGTAAATTTCAGTTGTTTTTCCCTCTAGGACAAACACTTACCAAAATATGCAACTTTTTTTTGGTGGGAAGAGAGATTGTCCTGTGATTTCTACCCATTTCCTGAGGCCTGTGGAAATAAACCTTTATGTACTTAAAGTTATACAGAAAATAGAATAAAGTTAATACCAAACTTGCTTAGTTGTTTACCTGTGATATTGGCTGTACAGAAATGCAAAAAATACTGAAAACACCAAGGATAAGAAACTACTCTTTATTTTAGACAACCTCATAAAATTATTTTCACATCCCCCCCAACTTCTTGCTCTTAATCCTCATCTTTTAGTTGAAGAATAAGGCTTAAGAGAGAGAAAGGAAAAACCATAATGGCTAAACTTAGCAGCACCAACACGGTTCTTTCATCAAGGCGTAGCTCATCATTTCTCCAAACTGACATGCTACAGAAATGTCTTCCAAAAAGCGTTAAGTTTTCACAGAGTGGGGACTATGATTTCCATGCTCAAATAGTGTAGGAAATGGTAGATTACGTTAGTTTTGTTTACTGTAACAGGAATTCTCAGGAGTCCTTAGACACTCTAATGTGGGTTGATCTCCAGAAGGAGAAAGGGAGTGTGTAGTATTTTCCAAGCTTTTTGAGCAAACAATCCTTTTCTCATGGAACACATCAGAAACAGTTTGGAGTATGCTGGTAAATGTGTTTTGGGGATGGAAGTCAGAAAGCCTGATCTTTTTCATATGGTTCCTCCTATTCTCTGCTAAAGCCAGCAACAGAGTAAGTTGACTCTAGCATCAAGACCACTAGTCATATTAAGAAAGGGCAGGTTGGTCGAGAATGGAATAGGAAGAACTAGCTGCCTCACTTTTCACTTTCGCGCCTACATTTTCTTCGCTCCCTAAGTTATACAAGATGTACATTTCCTCTCTTAAGCAACTTAATTTGGGTGCTACTTCCCTCCTTTTGTGACAGCAACTAATTCATCACTACCTGAGGAGACAAAGTGGGTGCTGCAGAAGCAAGACTGTAGGCCAGTGGGATTTGTCTAATAATTGATGATAAGATGATAGCACAGAGGGCAACGTACTGAGAGAGGAAGGCAGCCTTAAGAAATGATGCAGAAATAGCCAAGCAAGATTTTTCCAAGCACTGGTTAAATCACCAGCAAAACAAAGCATTTATGTGAGTACCTCAGGCCTGGGCACCTCTTTGCTTGAAATATGGCAAGACTTGGAAAAATGTTTGCCCTTAGAATCTATCTCACTACTTTAGTTAGTTGTCTCCTTTGGGCCTGGGCACAGTTCTGGCACTGATCTGGAACAGACTCCCTTTTCTAAAACTGAACTTGACCACATCAAAAGTTTGTAAAACAATCTCCATGGTAATTAAACTTGCATTCAACACCATATGGTAACAGAAGATGGCAAAGGATAAGATTCAGATCTTAGATCTTTCCAAGTAGGGCATGTTAGATGATAGAAGGATTAGTTGCAAGCTGGATCTGAGCTCAGGCTTGGGCATGAAGGAAACTGTCTCCCATGTGGTTTGGAAGAGTTAGGGGCTCCCTGAGCTCTATTGTGAACTATACGGGTTTCATCCAAGGAATGGTATGATGTGGGCATAAAACCATTCTTCAGACAACTGAAGATGGTCCCCTTCTGTAGCCAGAAACACTAGCTGTCCTGCATTGTCCATTTCCTTTAGCCCCAGGCGGTCCTGCAGAAGGAAAGGCCATAATTAATTAAAAAGCTTAATGAAGTTTTGGAGTAAAATGGTAAGTACGTTAACTTGAGATATATTTTCAAAATGCAGTTTGTCCTGAGTATTAAAATTGAGGTGTATTTTCAAAAATGCCAAAAAGAATATCTCCTACTTCTTTTTCTTTCTCTTTTTTCTTTTTCTTTCTTTCTCTTTCTTCCTTTCTTTTCTTTCTTCTCTCCTCCCCCTCCTCCTGTCCCCCCCGCTTCTTCTTCTTCTTCCTCTCTCTCTCTCTGTCTCTCTTTCTCTTTCTTTCTTTCAAGACGGAGTCTTGCTCGGTTGCTTAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACTTCTCTGGCTCAAGCGATTCTCCTGCCTCTGCCTCATGAGTAGCTGGAATTACAGGCGCATGCCACCATGCCTGGGTAATTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCTAGGATGGTCTTGATCTCCTGACCTCAGGTGATCCACGTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAGTTTTTTCTAAGTATTAAAAATAGATATGCAATTGAGATTGCTCTATACAGTGTTCTAGATTCTGATTTTTGAAAAGCTCAGAGTCAGAGGACTACCTATAGGTGGGCAAGCCATAGACGACACTGCCTCAGAATGCCATAGGTAAGTGGGACTGAGCCAAAGACAGAACATTAGCTAGGTAACTTAAAAAACATCCAACCCAGGACAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGATGGCCAAGGCAGGCGGATCACCTGTGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGACACTTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAATGAGCAAAACTGTCTCAAAAGAACAAAACAGAAAAACCATATCCAACCGTTAGGTAACAAACCCTGGACACTTTCATATTCTGGAGTTGAAAATGTCATTACCCATAGCCTAGATGCTGGAGAACAACCTCTGGTTGGGAAGATAAGCAGTTACGACAGTGCCAGAATGGTGCTTCTGCCGTGGCCAACATCATTTTGAGTTTTCACAGTAAGGAAGTTCTTAGCTGTAATTTCTCAAGCCTTTTTTTTTTTTTTTCTCAAATCAGATTCTAGCTTCCCTTTTTACCTCACCACCCAAGTTGAGGCACCCAGTGCAAAAGAAAAGCCAAGCCAAGAGGAGAC
|
CTATGGAACGGGCAGAAGTTGGTCACCACAGTGACAGAAATTGCTGGATAAGCGAAGTGCCACTGGGTTCTTTGCCCTCCCTTCACACCATGGGATAAATCTGTATCAAGACGGTTCTTTTCTAGATTTCCTCTACCTTTTTGCTCTTAAAACTGCTTCTCTGCTCTGAGAAGCACAGCTACCTGCCTTCACTGAAATATACCTCAGGCTGAAATTTGGGGTGGGATAGCAGGTCAGTTGATCTTCTGCAGGAAGGTGCAGCTTTTCCATATCAGCTCAACCACGCCGCCAGTCCATTCTTAAGGAACTGCCGACTAGGACTGATGATGCATTTTAGCTTTGAGCTTTTGGGGGTTATTCTACCAACAAACAGTCCATTGGAAAGAAAACAGTCCCTGGAATTAACAGATCAGAATGTTCACACTGGTTAATCTTTTTTTAACAATGAGCATGAAGGTAGCAGAAGCTGGTGTGTTTCCAGATGGTTCTTCTAACCAAACTAATTTTTCACTGTTGACAAGCGAGGCAAGGGTTGCACTGGACCAAAGGCTGAGGCTTGGCCATCTAGCATTCCATACAAAATTGTTTCCTATAAGCATTCCTTTTATTCTCTATTCTATCCTGGGTCTGCCTCAACCGTGAGATAGGAGAGTCTCTGGTACTAGCTGCTGTAGCAGTGCCCTTCATCCAGGGCAGTTAATGGAGTCTTGGACCCTTTCTTTCTCTGGGATCCCTGCCCAGCACCTTCCTATAGAGATGACTTTAAAAGGAAAAAAAAAAAAAAAAAAACCCACATGATTTCAAGGAGTCTGGCATTCCTGAATCCTTCTTCCCTGCCAGGTGCCTGTCACCTGTCTTCACTGCCTCCTTTTCCCTGTCATGCTCATCAGCTTATGGCTTCTGTCTAAGCACCTGAACAGAGGACTGAAACCTCCACTGCAGGCTGGTTTTAGGTCTTGAATTATGTAAGAATCTTGCACAGCACTGCTAATGTAAATTTCAGTTGTTTTTCCCTCTAGGACAAACACTTACCAAAATATGCAACTTTTTTTTGGTGGGAAGAGAGATTGTCCTGTGATTTCTACCCATTTCCTGAGGCCTGTGGAAATAAACCTTTATGTACTTAAAGTTATACAGAAAATAGAATAAAGTTAATACCAAACTTGCTTAGTTGTTTACCTGTGATATTGGCTGTACAGAAATGCAAAAAATACTGAAAACACCAAGGATAAGAAACTACTCTTTATTTTAGACAACCTCATAAAATTATTTTCACATCCCCCCCAACTTCTTGCTCTTAATCCTCATCTTTTAGTTGAAGAATAAGGCTTAAGAGAGAGAAAGGAAAAACCATAATGGCTAAACTTAGCAGCACCAACACGGTTCTTTCATCAAGGCGTAGCTCATCATTTCTCCAAACTGACATGCTACAGAAATGTCTTCCAAAAAGCGTTAAGTTTTCACAGAGTGGGGACTATGATTTCCATGCTCAAATAGTGTAGGAAATGGTAGATTACGTTAGTTTTGTTTACTGTAACAGGAATTCTCAGGAGTCCTTAGACACTCTAATGTGGGTTGATCTCCAGAAGGAGAAAGGGAGTGTGTAGTATTTTCCAAGCTTTTTGAGCAAACAATCCTTTTCTCATGGAACACATCAGAAACAGTTTGGAGTATGCTGGTAAATGTGTTTTGGGGATGGAAGTCAGAAAGCCTGATCTTTTTCATATGGTTCCTCCTATTCTCTGCTAAAGCCAGCAACAGAGTAAGTTGACTCTAGCATCAAGACCACTAGTCATATTAAGAAAGGGCAGGTTGGTCGAGAATGGAATAGGAAGAACTAGCTGCCTCACTTTTCACTTTCGCGCCTACATTTTCTTCGCTCCCTAAGTTATACAAGATGTACATTTCCTCTCTTAAGCAACTTAATTTGGGTGCTACTTCCCTCCTTTTGTGACAGCAACTAATTCATCACTACCTGAGGAGACAAAGTGGGTGCTGCAGAAGCAAGACTGTAGGCCAGTGGGATTTGTCTAATAATTGATGATAAGATGATTGATAGCACAGAGGGCAACGTACTGAGAGAGGAAGGCAGCCTTAAGAAATGATGCAGAAATAGCCAAGCAAGATTTTTCCAAGCACTGGTTAAATCACCAGCAAAACAAAGCATTTATGTGAGTACCTCAGGCCTGGGCACCTCTTTGCTTGAAATATGGCAAGACTTGGAAAAATGTTTGCCCTTAGAATCTATCTCACTACTTTAGTTAGTTGTCTCCTTTGGGCCTGGGCACAGTTCTGGCACTGATCTGGAACAGACTCCCTTTTCTAAAACTGAACTTGACCACATCAAAAGTTTGTAAAACAATCTCCATGGTAATTAAACTTGCATTCAACACCATATGGTAACAGAAGATGGCAAAGGATAAGATTCAGATCTTAGATCTTTCCAAGTAGGGCATGTTAGATGATAGAAGGATTAGTTGCAAGCTGGATCTGAGCTCAGGCTTGGGCATGAAGGAAACTGTCTCCCATGTGGTTTGGAAGAGTTAGGGGCTCCCTGAGCTCTATTGTGAACTATACGGGTTTCATCCAAGGAATGGTATGATGTGGGCATAAAACCATTCTTCAGACAACTGAAGATGGTCCCCTTCTGTAGCCAGAAACACTAGCTGTCCTGCATTGTCCATTTCCTTTAGCCCCAGGCGGTCCTGCAGAAGGAAAGGCCATAATTAATTAAAAAGCTTAATGAAGTTTTGGAGTAAAATGGTAAGTACGTTAACTTGAGATATATTTTCAAAATGCAGTTTGTCCTGAGTATTAAAATTGAGGTGTATTTTCAAAAATGCCAAAAAGAATATCTCCTACTTCTTTTTCTTTCTCTTTTTTCTTTTTCTTTCTTTCTCTTTCTTCCTTTCTTTTCTTTCTTCTCTCCTCCCCCTCCTCCTGTCCCCCCCGCTTCTTCTTCTTCTTCCTCTCTCTCTCTCTGTCTCTCTTTCTCTTTCTTTCTTTCAAGACGGAGTCTTGCTCGGTTGCTTAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACTTCTCTGGCTCAAGCGATTCTCCTGCCTCTGCCTCATGAGTAGCTGGAATTACAGGCGCATGCCACCATGCCTGGGTAATTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCTAGGATGGTCTTGATCTCCTGACCTCAGGTGATCCACGTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAGTTTTTTCTAAGTATTAAAAATAGATATGCAATTGAGATTGCTCTATACAGTGTTCTAGATTCTGATTTTTGAAAAGCTCAGAGTCAGAGGACTACCTATAGGTGGGCAAGCCATAGACGACACTGCCTCAGAATGCCATAGGTAAGTGGGACTGAGCCAAAGACAGAACATTAGCTAGGTAACTTAAAAAACATCCAACCCAGGACAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGATGGCCAAGGCAGGCGGATCACCTGTGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGACACTTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAATGAGCAAAACTGTCTCAAAAGAACAAAACAGAAAAACCATATCCAACCGTTAGGTAACAAACCCTGGACACTTTCATATTCTGGAGTTGAAAATGTCATTACCCATAGCCTAGATGCTGGAGAACAACCTCTGGTTGGGAAGATAAGCAGTTACGACAGTGCCAGAATGGTGCTTCTGCCGTGGCCAACATCATTTTGAGTTTTCACAGTAAGGAAGTTCTTAGCTGTAATTTCTCAAGCCTTTTTTTTTTTTTTTCTCAAATCAGATTCTAGCTTCCCTTTTTACCTCACCACCCAAGTTGAGGCACCCAGTGCAAAAGAAAAGCCAAGCCAAGAGG
|
benign
| 6,961 |
The chromosome 1, position 40074171 genetic variant in gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
GAGATAGGAGAGTCTCTGGTACTAGCTGCTGTAGCAGTGCCCTTCATCCAGGGCAGTTAATGGAGTCTTGGACCCTTTCTTTCTCTGGGATCCCTGCCCAGCACCTTCCTATAGAGATGACTTTAAAAGGAAAAAAAAAAAAAAAAAAACCCACATGATTTCAAGGAGTCTGGCATTCCTGAATCCTTCTTCCCTGCCAGGTGCCTGTCACCTGTCTTCACTGCCTCCTTTTCCCTGTCATGCTCATCAGCTTATGGCTTCTGTCTAAGCACCTGAACAGAGGACTGAAACCTCCACTGCAGGCTGGTTTTAGGTCTTGAATTATGTAAGAATCTTGCACAGCACTGCTAATGTAAATTTCAGTTGTTTTTCCCTCTAGGACAAACACTTACCAAAATATGCAACTTTTTTTTGGTGGGAAGAGAGATTGTCCTGTGATTTCTACCCATTTCCTGAGGCCTGTGGAAATAAACCTTTATGTACTTAAAGTTATACAGAAAATAGAATAAAGTTAATACCAAACTTGCTTAGTTGTTTACCTGTGATATTGGCTGTACAGAAATGCAAAAAATACTGAAAACACCAAGGATAAGAAACTACTCTTTATTTTAGACAACCTCATAAAATTATTTTCACATCCCCCCCAACTTCTTGCTCTTAATCCTCATCTTTTAGTTGAAGAATAAGGCTTAAGAGAGAGAAAGGAAAAACCATAATGGCTAAACTTAGCAGCACCAACACGGTTCTTTCATCAAGGCGTAGCTCATCATTTCTCCAAACTGACATGCTACAGAAATGTCTTCCAAAAAGCGTTAAGTTTTCACAGAGTGGGGACTATGATTTCCATGCTCAAATAGTGTAGGAAATGGTAGATTACGTTAGTTTTGTTTACTGTAACAGGAATTCTCAGGAGTCCTTAGACACTCTAATGTGGGTTGATCTCCAGAAGGAGAAAGGGAGTGTGTAGTATTTTCCAAGCTTTTTGAGCAAACAATCCTTTTCTCATGGAACACATCAGAAACAGTTTGGAGTATGCTGGTAAATGTGTTTTGGGGATGGAAGTCAGAAAGCCTGATCTTTTTCATATGGTTCCTCCTATTCTCTGCTAAAGCCAGCAACAGAGTAAGTTGACTCTAGCATCAAGACCACTAGTCATATTAAGAAAGGGCAGGTTGGTCGAGAATGGAATAGGAAGAACTAGCTGCCTCACTTTTCACTTTCGCGCCTACATTTTCTTCGCTCCCTAAGTTATACAAGATGTACATTTCCTCTCTTAAGCAACTTAATTTGGGTGCTACTTCCCTCCTTTTGTGACAGCAACTAATTCATCACTACCTGAGGAGACAAAGTGGGTGCTGCAGAAGCAAGACTGTAGGCCAGTGGGATTTGTCTAATAATTGATGATAAGATGATAGCACAGAGGGCAACGTACTGAGAGAGGAAGGCAGCCTTAAGAAATGATGCAGAAATAGCCAAGCAAGATTTTTCCAAGCACTGGTTAAATCACCAGCAAAACAAAGCATTTATGTGAGTACCTCAGGCCTGGGCACCTCTTTGCTTGAAATATGGCAAGACTTGGAAAAATGTTTGCCCTTAGAATCTATCTCACTACTTTAGTTAGTTGTCTCCTTTGGGCCTGGGCACAGTTCTGGCACTGATCTGGAACAGACTCCCTTTTCTAAAACTGAACTTGACCACATCAAAAGTTTGTAAAACAATCTCCATGGTAATTAAACTTGCATTCAACACCATATGGTAACAGAAGATGGCAAAGGATAAGATTCAGATCTTAGATCTTTCCAAGTAGGGCATGTTAGATGATAGAAGGATTAGTTGCAAGCTGGATCTGAGCTCAGGCTTGGGCATGAAGGAAACTGTCTCCCATGTGGTTTGGAAGAGTTAGGGGCTCCCTGAGCTCTATTGTGAACTATACGGGTTTCATCCAAGGAATGGTATGATGTGGGCATAAAACCATTCTTCAGACAACTGAAGATGGTCCCCTTCTGTAGCCAGAAACACTAGCTGTCCTGCATTGTCCATTTCCTTTAGCCCCAGGCGGTCCTGCAGAAGGAAAGGCCATAATTAATTAAAAAGCTTAATGAAGTTTTGGAGTAAAATGGTAAGTACGTTAACTTGAGATATATTTTCAAAATGCAGTTTGTCCTGAGTATTAAAATTGAGGTGTATTTTCAAAAATGCCAAAAAGAATATCTCCTACTTCTTTTTCTTTCTCTTTTTTCTTTTTCTTTCTTTCTCTTTCTTCCTTTCTTTTCTTTCTTCTCTCCTCCCCCTCCTCCTGTCCCCCCCGCTTCTTCTTCTTCTTCCTCTCTCTCTCTCTGTCTCTCTTTCTCTTTCTTTCTTTCAAGACGGAGTCTTGCTCGGTTGCTTAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACTTCTCTGGCTCAAGCGATTCTCCTGCCTCTGCCTCATGAGTAGCTGGAATTACAGGCGCATGCCACCATGCCTGGGTAATTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCTAGGATGGTCTTGATCTCCTGACCTCAGGTGATCCACGTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAGTTTTTTCTAAGTATTAAAAATAGATATGCAATTGAGATTGCTCTATACAGTGTTCTAGATTCTGATTTTTGAAAAGCTCAGAGTCAGAGGACTACCTATAGGTGGGCAAGCCATAGACGACACTGCCTCAGAATGCCATAGGTAAGTGGGACTGAGCCAAAGACAGAACATTAGCTAGGTAACTTAAAAAACATCCAACCCAGGACAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGATGGCCAAGGCAGGCGGATCACCTGTGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGACACTTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAATGAGCAAAACTGTCTCAAAAGAACAAAACAGAAAAACCATATCCAACCGTTAGGTAACAAACCCTGGACACTTTCATATTCTGGAGTTGAAAATGTCATTACCCATAGCCTAGATGCTGGAGAACAACCTCTGGTTGGGAAGATAAGCAGTTACGACAGTGCCAGAATGGTGCTTCTGCCGTGGCCAACATCATTTTGAGTTTTCACAGTAAGGAAGTTCTTAGCTGTAATTTCTCAAGCCTTTTTTTTTTTTTTTCTCAAATCAGATTCTAGCTTCCCTTTTTACCTCACCACCCAAGTTGAGGCACCCAGTGCAAAAGAAAAGCCAAGCCAAGAGGAGACAAATGACCTCTGAAATAACATGGAGGAATTCTAGTAGACGGTGATTGGTTCAGATGTAGTACTTAGCATTTTGGAGAGTCTGTCTCCAATATAAAATCCTTAGGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTTGAAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTGAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAACAAAACAAAGTATTAGGCATGGTGGCGTGTGCCTGTAATCCCAGCTACTAGTGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGTGACAAAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCCTTAAAGTGTAGAAGGCCCCAGAACTGGAGGTGGCAAATTACTGCAACTTCTGCTTAAGATACAGGACCTACTGCTAAACAAAATTCAAAACTCTAGTCCCACTCAACCTCCTGCAGGAGCCTCCCTTGTCAGTGCGTAATTTAGAAACAGGATTTCACATCTATTAATGTTTAAAAGTAATGTCCCTTGGCCAGGCGCACTGGCTCACGCCTGTAATCCCAGCA
|
GAGATAGGAGAGTCTCTGGTACTAGCTGCTGTAGCAGTGCCCTTCATCCAGGGCAGTTAATGGAGTCTTGGACCCTTTCTTTCTCTGGGATCCCTGCCCAGCACCTTCCTATAGAGATGACTTTAAAAGGAAAAAAAAAAAAAAAAAAACCCACATGATTTCAAGGAGTCTGGCATTCCTGAATCCTTCTTCCCTGCCAGGTGCCTGTCACCTGTCTTCACTGCCTCCTTTTCCCTGTCATGCTCATCAGCTTATGGCTTCTGTCTAAGCACCTGAACAGAGGACTGAAACCTCCACTGCAGGCTGGTTTTAGGTCTTGAATTATGTAAGAATCTTGCACAGCACTGCTAATGTAAATTTCAGTTGTTTTTCCCTCTAGGACAAACACTTACCAAAATATGCAACTTTTTTTTGGTGGGAAGAGAGATTGTCCTGTGATTTCTACCCATTTCCTGAGGCCTGTGGAAATAAACCTTTATGTACTTAAAGTTATACAGAAAATAGAATAAAGTTAATACCAAACTTGCTTAGTTGTTTACCTGTGATATTGGCTGTACAGAAATGCAAAAAATACTGAAAACACCAAGGATAAGAAACTACTCTTTATTTTAGACAACCTCATAAAATTATTTTCACATCCCCCCCAACTTCTTGCTCTTAATCCTCATCTTTTAGTTGAAGAATAAGGCTTAAGAGAGAGAAAGGAAAAACCATAATGGCTAAACTTAGCAGCACCAACACGGTTCTTTCATCAAGGCGTAGCTCATCATTTCTCCAAACTGACATGCTACAGAAATGTCTTCCAAAAAGCGTTAAGTTTTCACAGAGTGGGGACTATGATTTCCATGCTCAAATAGTGTAGGAAATGGTAGATTACGTTAGTTTTGTTTACTGTAACAGGAATTCTCAGGAGTCCTTAGACACTCTAATGTGGGTTGATCTCCAGAAGGAGAAAGGGAGTGTGTAGTATTTTCCAAGCTTTTTGAGCAAACAATCCTTTTCTCATGGAACACATCAGAAACAGTTTGGAGTATGCTGGTAAATGTGTTTTGGGGATGGAAGTCAGAAAGCCTGATCTTTTTCATATGGTTCCTCCTATTCTCTGCTAAAGCCAGCAACAGAGTAAGTTGACTCTAGCATCAAGACCACTAGTCATATTAAGAAAGGGCAGGTTGGTCGAGAATGGAATAGGAAGAACTAGCTGCCTCACTTTTCACTTTCGCGCCTACATTTTCTTCGCTCCCTAAGTTATACAAGATGTACATTTCCTCTCTTAAGCAACTTAATTTGGGTGCTACTTCCCTCCTTTTGTGACAGCAACTAATTCATCACTACCTGAGGAGACAAAGTGGGTGCTGCAGAAGCAAGACTGTAGGCCAGTGGGATTTGTCTAATAATTGATGATAAGATGATAGCACAGAGGGCAACGTACTGAGAGAGGAAGGCAGCCTTAAGAAATGATGCAGAAATAGCCAAGCAAGATTTTTCCAAGCACTGGTTAAATCACCAGCAAAACAAAGCATTTATGTGAGTACCTCAGGCCTGGGCACCTCTTTGCTTGAAATATGGCAAGACTTGGAAAAATGTTTGCCCTTAGAATCTATCTCACTACTTTAGTTAGTTGTCTCCTTTGGGCCTGGGCACAGTTCTGGCACTGATCTGGAACAGACTCCCTTTTCTAAAACTGAACTTGACCACATCAAAAGTTTGTAAAACAATCTCCATGGTAATTAAACTTGCATTCAACACCATATGGTAACAGAAGATGGCAAAGGATAAGATTCAGATCTTAGATCTTTCCAAGTAGGGCATGTTAGATGATAGAAGGATTAGTTGCAAGCTGGATCTGAGCTCAGGCTTGGGCATGAAGGAAACTGTCTCCCATGTGGTTTGGAAGAGTTAGGGGCTCCCTGAGCTCTATTGTGAACTATACGGGTTTCATCCAAGGAATGGTATGATGTGGGCATAAAACCATTCTTCAGACAACTGAAGATGGTCCCCTTCTGTAGCCAGAAACACTAGCTGTCCTGCATTGTCCATTTCCTTTAGCCCAGGCGGTCCTGCAGAAGGAAAGGCCATAATTAATTAAAAAGCTTAATGAAGTTTTGGAGTAAAATGGTAAGTACGTTAACTTGAGATATATTTTCAAAATGCAGTTTGTCCTGAGTATTAAAATTGAGGTGTATTTTCAAAAATGCCAAAAAGAATATCTCCTACTTCTTTTTCTTTCTCTTTTTTCTTTTTCTTTCTTTCTCTTTCTTCCTTTCTTTTCTTTCTTCTCTCCTCCCCCTCCTCCTGTCCCCCCCGCTTCTTCTTCTTCTTCCTCTCTCTCTCTCTGTCTCTCTTTCTCTTTCTTTCTTTCAAGACGGAGTCTTGCTCGGTTGCTTAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACTTCTCTGGCTCAAGCGATTCTCCTGCCTCTGCCTCATGAGTAGCTGGAATTACAGGCGCATGCCACCATGCCTGGGTAATTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCTAGGATGGTCTTGATCTCCTGACCTCAGGTGATCCACGTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAGTTTTTTCTAAGTATTAAAAATAGATATGCAATTGAGATTGCTCTATACAGTGTTCTAGATTCTGATTTTTGAAAAGCTCAGAGTCAGAGGACTACCTATAGGTGGGCAAGCCATAGACGACACTGCCTCAGAATGCCATAGGTAAGTGGGACTGAGCCAAAGACAGAACATTAGCTAGGTAACTTAAAAAACATCCAACCCAGGACAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGATGGCCAAGGCAGGCGGATCACCTGTGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGACACTTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAATGAGCAAAACTGTCTCAAAAGAACAAAACAGAAAAACCATATCCAACCGTTAGGTAACAAACCCTGGACACTTTCATATTCTGGAGTTGAAAATGTCATTACCCATAGCCTAGATGCTGGAGAACAACCTCTGGTTGGGAAGATAAGCAGTTACGACAGTGCCAGAATGGTGCTTCTGCCGTGGCCAACATCATTTTGAGTTTTCACAGTAAGGAAGTTCTTAGCTGTAATTTCTCAAGCCTTTTTTTTTTTTTTTCTCAAATCAGATTCTAGCTTCCCTTTTTACCTCACCACCCAAGTTGAGGCACCCAGTGCAAAAGAAAAGCCAAGCCAAGAGGAGACAAATGACCTCTGAAATAACATGGAGGAATTCTAGTAGACGGTGATTGGTTCAGATGTAGTACTTAGCATTTTGGAGAGTCTGTCTCCAATATAAAATCCTTAGGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTTGAAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTGAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAACAAAACAAAGTATTAGGCATGGTGGCGTGTGCCTGTAATCCCAGCTACTAGTGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGTGACAAAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCCTTAAAGTGTAGAAGGCCCCAGAACTGGAGGTGGCAAATTACTGCAACTTCTGCTTAAGATACAGGACCTACTGCTAAACAAAATTCAAAACTCTAGTCCCACTCAACCTCCTGCAGGAGCCTCCCTTGTCAGTGCGTAATTTAGAAACAGGATTTCACATCTATTAATGTTTAAAAGTAATGTCCCTTGGCCAGGCGCACTGGCTCACGCCTGTAATCCCAGCAN
|
pathogenic
| 6,968 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 40074182, gene PPT1 (palmitoyl-protein thioesterase 1): what disease(s) if pathogenic?
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
GTCTCTGGTACTAGCTGCTGTAGCAGTGCCCTTCATCCAGGGCAGTTAATGGAGTCTTGGACCCTTTCTTTCTCTGGGATCCCTGCCCAGCACCTTCCTATAGAGATGACTTTAAAAGGAAAAAAAAAAAAAAAAAAACCCACATGATTTCAAGGAGTCTGGCATTCCTGAATCCTTCTTCCCTGCCAGGTGCCTGTCACCTGTCTTCACTGCCTCCTTTTCCCTGTCATGCTCATCAGCTTATGGCTTCTGTCTAAGCACCTGAACAGAGGACTGAAACCTCCACTGCAGGCTGGTTTTAGGTCTTGAATTATGTAAGAATCTTGCACAGCACTGCTAATGTAAATTTCAGTTGTTTTTCCCTCTAGGACAAACACTTACCAAAATATGCAACTTTTTTTTGGTGGGAAGAGAGATTGTCCTGTGATTTCTACCCATTTCCTGAGGCCTGTGGAAATAAACCTTTATGTACTTAAAGTTATACAGAAAATAGAATAAAGTTAATACCAAACTTGCTTAGTTGTTTACCTGTGATATTGGCTGTACAGAAATGCAAAAAATACTGAAAACACCAAGGATAAGAAACTACTCTTTATTTTAGACAACCTCATAAAATTATTTTCACATCCCCCCCAACTTCTTGCTCTTAATCCTCATCTTTTAGTTGAAGAATAAGGCTTAAGAGAGAGAAAGGAAAAACCATAATGGCTAAACTTAGCAGCACCAACACGGTTCTTTCATCAAGGCGTAGCTCATCATTTCTCCAAACTGACATGCTACAGAAATGTCTTCCAAAAAGCGTTAAGTTTTCACAGAGTGGGGACTATGATTTCCATGCTCAAATAGTGTAGGAAATGGTAGATTACGTTAGTTTTGTTTACTGTAACAGGAATTCTCAGGAGTCCTTAGACACTCTAATGTGGGTTGATCTCCAGAAGGAGAAAGGGAGTGTGTAGTATTTTCCAAGCTTTTTGAGCAAACAATCCTTTTCTCATGGAACACATCAGAAACAGTTTGGAGTATGCTGGTAAATGTGTTTTGGGGATGGAAGTCAGAAAGCCTGATCTTTTTCATATGGTTCCTCCTATTCTCTGCTAAAGCCAGCAACAGAGTAAGTTGACTCTAGCATCAAGACCACTAGTCATATTAAGAAAGGGCAGGTTGGTCGAGAATGGAATAGGAAGAACTAGCTGCCTCACTTTTCACTTTCGCGCCTACATTTTCTTCGCTCCCTAAGTTATACAAGATGTACATTTCCTCTCTTAAGCAACTTAATTTGGGTGCTACTTCCCTCCTTTTGTGACAGCAACTAATTCATCACTACCTGAGGAGACAAAGTGGGTGCTGCAGAAGCAAGACTGTAGGCCAGTGGGATTTGTCTAATAATTGATGATAAGATGATAGCACAGAGGGCAACGTACTGAGAGAGGAAGGCAGCCTTAAGAAATGATGCAGAAATAGCCAAGCAAGATTTTTCCAAGCACTGGTTAAATCACCAGCAAAACAAAGCATTTATGTGAGTACCTCAGGCCTGGGCACCTCTTTGCTTGAAATATGGCAAGACTTGGAAAAATGTTTGCCCTTAGAATCTATCTCACTACTTTAGTTAGTTGTCTCCTTTGGGCCTGGGCACAGTTCTGGCACTGATCTGGAACAGACTCCCTTTTCTAAAACTGAACTTGACCACATCAAAAGTTTGTAAAACAATCTCCATGGTAATTAAACTTGCATTCAACACCATATGGTAACAGAAGATGGCAAAGGATAAGATTCAGATCTTAGATCTTTCCAAGTAGGGCATGTTAGATGATAGAAGGATTAGTTGCAAGCTGGATCTGAGCTCAGGCTTGGGCATGAAGGAAACTGTCTCCCATGTGGTTTGGAAGAGTTAGGGGCTCCCTGAGCTCTATTGTGAACTATACGGGTTTCATCCAAGGAATGGTATGATGTGGGCATAAAACCATTCTTCAGACAACTGAAGATGGTCCCCTTCTGTAGCCAGAAACACTAGCTGTCCTGCATTGTCCATTTCCTTTAGCCCCAGGCGGTCCTGCAGAAGGAAAGGCCATAATTAATTAAAAAGCTTAATGAAGTTTTGGAGTAAAATGGTAAGTACGTTAACTTGAGATATATTTTCAAAATGCAGTTTGTCCTGAGTATTAAAATTGAGGTGTATTTTCAAAAATGCCAAAAAGAATATCTCCTACTTCTTTTTCTTTCTCTTTTTTCTTTTTCTTTCTTTCTCTTTCTTCCTTTCTTTTCTTTCTTCTCTCCTCCCCCTCCTCCTGTCCCCCCCGCTTCTTCTTCTTCTTCCTCTCTCTCTCTCTGTCTCTCTTTCTCTTTCTTTCTTTCAAGACGGAGTCTTGCTCGGTTGCTTAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACTTCTCTGGCTCAAGCGATTCTCCTGCCTCTGCCTCATGAGTAGCTGGAATTACAGGCGCATGCCACCATGCCTGGGTAATTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCTAGGATGGTCTTGATCTCCTGACCTCAGGTGATCCACGTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAGTTTTTTCTAAGTATTAAAAATAGATATGCAATTGAGATTGCTCTATACAGTGTTCTAGATTCTGATTTTTGAAAAGCTCAGAGTCAGAGGACTACCTATAGGTGGGCAAGCCATAGACGACACTGCCTCAGAATGCCATAGGTAAGTGGGACTGAGCCAAAGACAGAACATTAGCTAGGTAACTTAAAAAACATCCAACCCAGGACAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGATGGCCAAGGCAGGCGGATCACCTGTGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGACACTTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAATGAGCAAAACTGTCTCAAAAGAACAAAACAGAAAAACCATATCCAACCGTTAGGTAACAAACCCTGGACACTTTCATATTCTGGAGTTGAAAATGTCATTACCCATAGCCTAGATGCTGGAGAACAACCTCTGGTTGGGAAGATAAGCAGTTACGACAGTGCCAGAATGGTGCTTCTGCCGTGGCCAACATCATTTTGAGTTTTCACAGTAAGGAAGTTCTTAGCTGTAATTTCTCAAGCCTTTTTTTTTTTTTTTCTCAAATCAGATTCTAGCTTCCCTTTTTACCTCACCACCCAAGTTGAGGCACCCAGTGCAAAAGAAAAGCCAAGCCAAGAGGAGACAAATGACCTCTGAAATAACATGGAGGAATTCTAGTAGACGGTGATTGGTTCAGATGTAGTACTTAGCATTTTGGAGAGTCTGTCTCCAATATAAAATCCTTAGGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTTGAAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTGAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAACAAAACAAAGTATTAGGCATGGTGGCGTGTGCCTGTAATCCCAGCTACTAGTGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGTGACAAAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCCTTAAAGTGTAGAAGGCCCCAGAACTGGAGGTGGCAAATTACTGCAACTTCTGCTTAAGATACAGGACCTACTGCTAAACAAAATTCAAAACTCTAGTCCCACTCAACCTCCTGCAGGAGCCTCCCTTGTCAGTGCGTAATTTAGAAACAGGATTTCACATCTATTAATGTTTAAAAGTAATGTCCCTTGGCCAGGCGCACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC
|
GTCTCTGGTACTAGCTGCTGTAGCAGTGCCCTTCATCCAGGGCAGTTAATGGAGTCTTGGACCCTTTCTTTCTCTGGGATCCCTGCCCAGCACCTTCCTATAGAGATGACTTTAAAAGGAAAAAAAAAAAAAAAAAAACCCACATGATTTCAAGGAGTCTGGCATTCCTGAATCCTTCTTCCCTGCCAGGTGCCTGTCACCTGTCTTCACTGCCTCCTTTTCCCTGTCATGCTCATCAGCTTATGGCTTCTGTCTAAGCACCTGAACAGAGGACTGAAACCTCCACTGCAGGCTGGTTTTAGGTCTTGAATTATGTAAGAATCTTGCACAGCACTGCTAATGTAAATTTCAGTTGTTTTTCCCTCTAGGACAAACACTTACCAAAATATGCAACTTTTTTTTGGTGGGAAGAGAGATTGTCCTGTGATTTCTACCCATTTCCTGAGGCCTGTGGAAATAAACCTTTATGTACTTAAAGTTATACAGAAAATAGAATAAAGTTAATACCAAACTTGCTTAGTTGTTTACCTGTGATATTGGCTGTACAGAAATGCAAAAAATACTGAAAACACCAAGGATAAGAAACTACTCTTTATTTTAGACAACCTCATAAAATTATTTTCACATCCCCCCCAACTTCTTGCTCTTAATCCTCATCTTTTAGTTGAAGAATAAGGCTTAAGAGAGAGAAAGGAAAAACCATAATGGCTAAACTTAGCAGCACCAACACGGTTCTTTCATCAAGGCGTAGCTCATCATTTCTCCAAACTGACATGCTACAGAAATGTCTTCCAAAAAGCGTTAAGTTTTCACAGAGTGGGGACTATGATTTCCATGCTCAAATAGTGTAGGAAATGGTAGATTACGTTAGTTTTGTTTACTGTAACAGGAATTCTCAGGAGTCCTTAGACACTCTAATGTGGGTTGATCTCCAGAAGGAGAAAGGGAGTGTGTAGTATTTTCCAAGCTTTTTGAGCAAACAATCCTTTTCTCATGGAACACATCAGAAACAGTTTGGAGTATGCTGGTAAATGTGTTTTGGGGATGGAAGTCAGAAAGCCTGATCTTTTTCATATGGTTCCTCCTATTCTCTGCTAAAGCCAGCAACAGAGTAAGTTGACTCTAGCATCAAGACCACTAGTCATATTAAGAAAGGGCAGGTTGGTCGAGAATGGAATAGGAAGAACTAGCTGCCTCACTTTTCACTTTCGCGCCTACATTTTCTTCGCTCCCTAAGTTATACAAGATGTACATTTCCTCTCTTAAGCAACTTAATTTGGGTGCTACTTCCCTCCTTTTGTGACAGCAACTAATTCATCACTACCTGAGGAGACAAAGTGGGTGCTGCAGAAGCAAGACTGTAGGCCAGTGGGATTTGTCTAATAATTGATGATAAGATGATAGCACAGAGGGCAACGTACTGAGAGAGGAAGGCAGCCTTAAGAAATGATGCAGAAATAGCCAAGCAAGATTTTTCCAAGCACTGGTTAAATCACCAGCAAAACAAAGCATTTATGTGAGTACCTCAGGCCTGGGCACCTCTTTGCTTGAAATATGGCAAGACTTGGAAAAATGTTTGCCCTTAGAATCTATCTCACTACTTTAGTTAGTTGTCTCCTTTGGGCCTGGGCACAGTTCTGGCACTGATCTGGAACAGACTCCCTTTTCTAAAACTGAACTTGACCACATCAAAAGTTTGTAAAACAATCTCCATGGTAATTAAACTTGCATTCAACACCATATGGTAACAGAAGATGGCAAAGGATAAGATTCAGATCTTAGATCTTTCCAAGTAGGGCATGTTAGATGATAGAAGGATTAGTTGCAAGCTGGATCTGAGCTCAGGCTTGGGCATGAAGGAAACTGTCTCCCATGTGGTTTGGAAGAGTTAGGGGCTCCCTGAGCTCTATTGTGAACTATACGGGTTTCATCCAAGGAATGGTATGATGTGGGCATAAAACCATTCTTCAGACAACTGAAGATGGTCCCCTTCTGTAGCCAGAAACACTAGCTGTCCTGCATTGTCCATTTCCTTTAGCCCCAGGCGGTCTGCAGAAGGAAAGGCCATAATTAATTAAAAAGCTTAATGAAGTTTTGGAGTAAAATGGTAAGTACGTTAACTTGAGATATATTTTCAAAATGCAGTTTGTCCTGAGTATTAAAATTGAGGTGTATTTTCAAAAATGCCAAAAAGAATATCTCCTACTTCTTTTTCTTTCTCTTTTTTCTTTTTCTTTCTTTCTCTTTCTTCCTTTCTTTTCTTTCTTCTCTCCTCCCCCTCCTCCTGTCCCCCCCGCTTCTTCTTCTTCTTCCTCTCTCTCTCTCTGTCTCTCTTTCTCTTTCTTTCTTTCAAGACGGAGTCTTGCTCGGTTGCTTAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACTTCTCTGGCTCAAGCGATTCTCCTGCCTCTGCCTCATGAGTAGCTGGAATTACAGGCGCATGCCACCATGCCTGGGTAATTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCTAGGATGGTCTTGATCTCCTGACCTCAGGTGATCCACGTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAGTTTTTTCTAAGTATTAAAAATAGATATGCAATTGAGATTGCTCTATACAGTGTTCTAGATTCTGATTTTTGAAAAGCTCAGAGTCAGAGGACTACCTATAGGTGGGCAAGCCATAGACGACACTGCCTCAGAATGCCATAGGTAAGTGGGACTGAGCCAAAGACAGAACATTAGCTAGGTAACTTAAAAAACATCCAACCCAGGACAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGATGGCCAAGGCAGGCGGATCACCTGTGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGACACTTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAATGAGCAAAACTGTCTCAAAAGAACAAAACAGAAAAACCATATCCAACCGTTAGGTAACAAACCCTGGACACTTTCATATTCTGGAGTTGAAAATGTCATTACCCATAGCCTAGATGCTGGAGAACAACCTCTGGTTGGGAAGATAAGCAGTTACGACAGTGCCAGAATGGTGCTTCTGCCGTGGCCAACATCATTTTGAGTTTTCACAGTAAGGAAGTTCTTAGCTGTAATTTCTCAAGCCTTTTTTTTTTTTTTTCTCAAATCAGATTCTAGCTTCCCTTTTTACCTCACCACCCAAGTTGAGGCACCCAGTGCAAAAGAAAAGCCAAGCCAAGAGGAGACAAATGACCTCTGAAATAACATGGAGGAATTCTAGTAGACGGTGATTGGTTCAGATGTAGTACTTAGCATTTTGGAGAGTCTGTCTCCAATATAAAATCCTTAGGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTTGAAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTGAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAACAAAACAAAGTATTAGGCATGGTGGCGTGTGCCTGTAATCCCAGCTACTAGTGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGTGACAAAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCCTTAAAGTGTAGAAGGCCCCAGAACTGGAGGTGGCAAATTACTGCAACTTCTGCTTAAGATACAGGACCTACTGCTAAACAAAATTCAAAACTCTAGTCCCACTCAACCTCCTGCAGGAGCCTCCCTTGTCAGTGCGTAATTTAGAAACAGGATTTCACATCTATTAATGTTTAAAAGTAATGTCCCTTGGCCAGGCGCACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCN
|
pathogenic
| 6,969 |
Regarding the variant found on chromosome 1 at position 40076863 in gene PPT1 (palmitoyl-protein thioesterase 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
ATACAGTGTTCTAGATTCTGATTTTTGAAAAGCTCAGAGTCAGAGGACTACCTATAGGTGGGCAAGCCATAGACGACACTGCCTCAGAATGCCATAGGTAAGTGGGACTGAGCCAAAGACAGAACATTAGCTAGGTAACTTAAAAAACATCCAACCCAGGACAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGATGGCCAAGGCAGGCGGATCACCTGTGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGACACTTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAATGAGCAAAACTGTCTCAAAAGAACAAAACAGAAAAACCATATCCAACCGTTAGGTAACAAACCCTGGACACTTTCATATTCTGGAGTTGAAAATGTCATTACCCATAGCCTAGATGCTGGAGAACAACCTCTGGTTGGGAAGATAAGCAGTTACGACAGTGCCAGAATGGTGCTTCTGCCGTGGCCAACATCATTTTGAGTTTTCACAGTAAGGAAGTTCTTAGCTGTAATTTCTCAAGCCTTTTTTTTTTTTTTTCTCAAATCAGATTCTAGCTTCCCTTTTTACCTCACCACCCAAGTTGAGGCACCCAGTGCAAAAGAAAAGCCAAGCCAAGAGGAGACAAATGACCTCTGAAATAACATGGAGGAATTCTAGTAGACGGTGATTGGTTCAGATGTAGTACTTAGCATTTTGGAGAGTCTGTCTCCAATATAAAATCCTTAGGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTTGAAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTGAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAACAAAACAAAGTATTAGGCATGGTGGCGTGTGCCTGTAATCCCAGCTACTAGTGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGTGACAAAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCCTTAAAGTGTAGAAGGCCCCAGAACTGGAGGTGGCAAATTACTGCAACTTCTGCTTAAGATACAGGACCTACTGCTAAACAAAATTCAAAACTCTAGTCCCACTCAACCTCCTGCAGGAGCCTCCCTTGTCAGTGCGTAATTTAGAAACAGGATTTCACATCTATTAATGTTTAAAAGTAATGTCCCTTGGCCAGGCGCACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTCCTAAAAATACAAAAATTAGCCAGGTGTGATGGCACACACCTGTAATCCCAGCTACTAAGGGGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGGGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCCGTCTCAAAGAAAAAAAAAGGAATGCCCCTCATCATGCATGGAGGCTTCCTGGATTTGTAGCAGACTGTACCTCAGCCAAGGCAGCTAGTTTTAAAACCTTTTTATCAAAAGAAGGGAATCAGACATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGCAAAGGAAAGAAGCTCAGATATGACACACAGCACATACTGCCAAAATAATTTGAGACTGGTTAGAAGCTAAAACTGCCAACAAAGTGAACATCATAAAGCTGTAGGAAGAAGGAAAAATGGATAGGGTGCGTCTGAGTCATCTCTTCTTAAGGGTGGAGCCCGAGGGATGAGTTAATCTTTCTGAGAGGCCGCTTTCCACTTCCCCAGAATTTCTGCTTCCTAAAATTATTAAGCAATAAATGTGAAAAATTCCTGTGCTGAGCTCTAGACATTCAAGGATGAATACATAATCTGTTTCCAAAAAGCTCCCAGTCTTGCAAGGCACGGAAACAATTCACTGTTGAGTACAGAGGTCAGCAAACGTTTTTGTAAAGGCCAGATACAAAATATTTTAGGCTTTAAGGGCCATATGGTTGTAACTACTCATTGCTGCCACTGTAACAAATGCAGCCACAGACAGTATGTAAAAAGTAACTAAAACTGTTCCAATAAGGACACTGAAATTTAAATTTTACATAATCTTTATATGTCCAAATACTTGATATGTCTAAATAAATTTTACATAATCTTTATATGTCCAATTCTTTCCCCCAACCATTAAAAAATGTTAAAAACATTCTTTTATGTTAGTGTTTGGTGTTACTCGTGGGTAGCACCAAAACGGGTAGCAGGATGGACTGGGCCTGTGGGCCACAATCGGCCAATCCCTGGTGGTGTGACATAACGTGATGAGTGTTTTAACAGAGGCTGATGATTCTAAAAAAGCGATCACATTCTGCTTGGAATGGGGATGGCATCCTTGCCTTGACAGACGAATAGAAATTGTCAGGTGGAGAAGCCAAGGAAGGGCATTCTAGAGACAGAAATATATGAACCAAGGCATACGAGAGAAAAAGCACAAGTAGTACAATATGGCTTGATCAAGAGTGTATGAAGCGTGCAGACAAGGCAGATTAGGCTGGAAAATGGGGTGAAGCCAGATCAAGGCAGACCTTGGAGGCCAAGCTTAGGAATTTATATATTTTGGGCTAGTGATTCTGAACATTTTTTGGGTCTCTGATCTCTGGAAAATGGATTAAAATTATAGATCCTTCCCCAGAGAATGTAATTACATAATTTTGCATAGAATTTTGGGGTTGGGGGATTGATTACAATCTTCAGTGTCCCATTTATGGACCTCAGGTGAAGAACTGTTTTATACAAAAGTTGGTGGAAGGGACTGAAGGTTTTTTCCCCAGCAGGCAGCTGTATTTTTTCATTTCATTTCAATTTCATTTTATGTTCTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGGGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGATGGCTGTCACCATACCCGGCTAATTTCTTTTTGTATTTTGAGTAGCGATGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCAGCAGCCCTATTTTAATGCCATTTACTCTCCTGGCATGTGGCCTAAGTAGTGTCTCACCTCCGAATCTACAGGGTCCACAATGGAATCATTGAGGAATTTCACCATCACAAACTTCTTCAGGGCCATCAGGTTTTTCTTGTAGGACTCATTGATACCCTGAAAGAAAGGCCAGCAACACCTAAGGTCATTACCATCAGACACCAGCAGAGGGAGTAAAGCCTTCCTGTTTTCTGGTCTCCCTGACCCTGTGCCACTGTGTTTCTTCCCCATGGGTATGGGCTGTTTTCCAGCTTCCTGACCAGGATATACCTGTACAGCTTTTTTTTTTCTTTTTTTCTAAAAAACAAAATATTTTATTTTAGATTCAGGGGGGTACATGTGTAGTTTTGTTATAAGGGTATATTGTGT
|
ATACAGTGTTCTAGATTCTGATTTTTGAAAAGCTCAGAGTCAGAGGACTACCTATAGGTGGGCAAGCCATAGACGACACTGCCTCAGAATGCCATAGGTAAGTGGGACTGAGCCAAAGACAGAACATTAGCTAGGTAACTTAAAAAACATCCAACCCAGGACAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGATGGCCAAGGCAGGCGGATCACCTGTGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGACACTTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGACAGGAGAATTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAATGAGCAAAACTGTCTCAAAAGAACAAAACAGAAAAACCATATCCAACCGTTAGGTAACAAACCCTGGACACTTTCATATTCTGGAGTTGAAAATGTCATTACCCATAGCCTAGATGCTGGAGAACAACCTCTGGTTGGGAAGATAAGCAGTTACGACAGTGCCAGAATGGTGCTTCTGCCGTGGCCAACATCATTTTGAGTTTTCACAGTAAGGAAGTTCTTAGCTGTAATTTCTCAAGCCTTTTTTTTTTTTTTTCTCAAATCAGATTCTAGCTTCCCTTTTTACCTCACCACCCAAGTTGAGGCACCCAGTGCAAAAGAAAAGCCAAGCCAAGAGGAGACAAATGACCTCTGAAATAACATGGAGGAATTCTAGTAGACGGTGATTGGTTCAGATGTAGTACTTAGCATTTTGGAGAGTCTGTCTCCAATATAAAATCCTTAGGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTTGAAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTGAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAACAAAACAAAGTATTAGGCATGGTGGCGTGTGCCTGTAATCCCAGCTACTAGTGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGTGACAAAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCCTTAAAGTGTAGAAGGCCCCAGAACTGGAGGTGGCAAATTACTGCAACTTCTGCTTAAGATACAGGACCTACTGCTAAACAAAATTCAAAACTCTAGTCCCACTCAACCTCCTGCAGGAGCCTCCCTTGTCAGTGCGTAATTTAGAAACAGGATTTCACATCTATTAATGTTTAAAAGTAATGTCCCTTGGCCAGGCGCACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTCCTAAAAATACAAAAATTAGCCAGGTGTGATGGCACACACCTGTAATCCCAGCTACTAAGGGGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGGGGTTGCAGTGAGCCAAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCCGTCTCAAAGAAAAAAAAAGGAATGCCCCTCATCATGCATGGAGGCTTCCTGGATTTGTAGCAGACTGTACCTCAGCCAAGGCAGCTAGTTTTAAAACCTTTTTATCAAAAGAAGGGAATCAGACATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGCAAAGGAAAGAAGCTCAGATATGACACACAGCACATACTGCCAAAATAATTTGAGACTGGTTAGAAGCTAAAACTGCCAACAAAGTGAACATCATAAAGCTGTAGGAAGAAGGAAAAATGGATAGGGTGCGTCTGAGTCATCTCTTCTTAAGGGTGGAGCCCGAGGGATGAGTTAATCTTTCTGAGAGGCCGCTTTCCACTTCCCCAGAATTTCTGCTTCCTAAAATTATTAAGCAATAAATGTGAAAAATTCCTGTGCTGAGCTCTAGACATTCAAGGATGAATACATAATCTGTTTCCAAAAAGCTCCCAGTCTTGCAAGGCACGGAAACAATTCACTGTTGAGTACAGAGGTCAGCAAACGTTTTTGTAAAGGCCAGATACAAAATATTTTAGGCTTTAAGGGCCATATGGTTGTAACTACTCATTGCTGCCACTGTAACAAATGCAGCCACAGACAGTATGTAAAAAGTAACTAAAACTGTTCCAATAAGGACACTGAAATTTAAATTTTACATAATCTTTATATGTCCAAATACTTGATATGTCTAAATAAATTTTACATAATCTTTATATGTCCAATTCTTTCCCCCAACCATTAAAAAATGTTAAAAACATTCTTTTATGTTAGTGTTTGGTGTTACTCGTGGGTAGCACCAAAACGGGTAGCAGGATGGACTGGGCCTGTGGGCCACAATCGGCCAATCCCTGGTGGTGTGACATAACGTGATGAGTGTTTTAACAGAGGCTGATGATTCTAAAAAAGCGATCACATTCTGCTTGGAATGGGGATGGCATCCTTGCCTTGACAGACGAATAGAAATTGTCAGGTGGAGAAGCCAAGGAAGGGCATTCTAGAGACAGAAATATATGAACCAAGGCATACGAGAGAAAAAGCACAAGTAGTACAATATGGCTTGATCAAGAGTGTATGAAGCGTGCAGACAAGGCAGATTAGGCTGGAAAATGGGGTGAAGCCAGATCAAGGCAGACCTTGGAGGCCAAGCTTAGGAATTTATATATTTTGGGCTAGTGATTCTGAACATTTTTTGGGTCTCTGATCTCTGGAAAATGGATTAAAATTATAGATCCTTCCCCAGAGAATGTAATTACATAATTTTGCATAGAATTTTGGGGTTGGGGGATTGATTACAATCTTCAGTGTCCCATTTATGGACCTCAGGTGAAGAACTGTTTTATACAAAAGTTGGTGGAAGGGACTGAAGGTTTTTTCCCCAGCAGGCAGCTGTATTTTTTCATTTCATTTCAATTTCATTTTATGTTCTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGGGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGATGGCTGTCACCATACCCGGCTAATTTCTTTTTGTATTTTGAGTAGCGATGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCAGCAGCCCTATTTTAATGCCATTTACTCTCCTGGCATGTGGCCTAAGTAGTGTCTCACCTCCGAATCTACAGGGTCCACAATGGAATCATTGAGGAATTTCACCATCACAAACTTCTTCAGGGCCATCAGGTTTTTCTTGTAGGACTCATTGATACCCTGAAAGAAAGGCCAGCAACACCTAAGGTCATTACCATCAGACACCAGCAGAGGGAGTAAAGCCTTCCTGTTTTCTGGTCTCCCTGACCCTGTGCCACTGTGTTTCTTCCCCATGGGTATGGGCTGTTTTCCAGCTTCCTGACCAGGATATACCTGTACAGCTTTTTTTTTTCTTTTTTTCTAAAAAACAAAATATTTTATTTTAGATTCAGGGGGGTACATGTGTAGTTTTGTTATAAGGGTATATTGTG
|
pathogenic
| 6,975 |
Evaluate if the mutation on chromosome 1 at position 40078564 in PPT1 (palmitoyl-protein thioesterase 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
GTAGCAGACTGTACCTCAGCCAAGGCAGCTAGTTTTAAAACCTTTTTATCAAAAGAAGGGAATCAGACATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGCAAAGGAAAGAAGCTCAGATATGACACACAGCACATACTGCCAAAATAATTTGAGACTGGTTAGAAGCTAAAACTGCCAACAAAGTGAACATCATAAAGCTGTAGGAAGAAGGAAAAATGGATAGGGTGCGTCTGAGTCATCTCTTCTTAAGGGTGGAGCCCGAGGGATGAGTTAATCTTTCTGAGAGGCCGCTTTCCACTTCCCCAGAATTTCTGCTTCCTAAAATTATTAAGCAATAAATGTGAAAAATTCCTGTGCTGAGCTCTAGACATTCAAGGATGAATACATAATCTGTTTCCAAAAAGCTCCCAGTCTTGCAAGGCACGGAAACAATTCACTGTTGAGTACAGAGGTCAGCAAACGTTTTTGTAAAGGCCAGATACAAAATATTTTAGGCTTTAAGGGCCATATGGTTGTAACTACTCATTGCTGCCACTGTAACAAATGCAGCCACAGACAGTATGTAAAAAGTAACTAAAACTGTTCCAATAAGGACACTGAAATTTAAATTTTACATAATCTTTATATGTCCAAATACTTGATATGTCTAAATAAATTTTACATAATCTTTATATGTCCAATTCTTTCCCCCAACCATTAAAAAATGTTAAAAACATTCTTTTATGTTAGTGTTTGGTGTTACTCGTGGGTAGCACCAAAACGGGTAGCAGGATGGACTGGGCCTGTGGGCCACAATCGGCCAATCCCTGGTGGTGTGACATAACGTGATGAGTGTTTTAACAGAGGCTGATGATTCTAAAAAAGCGATCACATTCTGCTTGGAATGGGGATGGCATCCTTGCCTTGACAGACGAATAGAAATTGTCAGGTGGAGAAGCCAAGGAAGGGCATTCTAGAGACAGAAATATATGAACCAAGGCATACGAGAGAAAAAGCACAAGTAGTACAATATGGCTTGATCAAGAGTGTATGAAGCGTGCAGACAAGGCAGATTAGGCTGGAAAATGGGGTGAAGCCAGATCAAGGCAGACCTTGGAGGCCAAGCTTAGGAATTTATATATTTTGGGCTAGTGATTCTGAACATTTTTTGGGTCTCTGATCTCTGGAAAATGGATTAAAATTATAGATCCTTCCCCAGAGAATGTAATTACATAATTTTGCATAGAATTTTGGGGTTGGGGGATTGATTACAATCTTCAGTGTCCCATTTATGGACCTCAGGTGAAGAACTGTTTTATACAAAAGTTGGTGGAAGGGACTGAAGGTTTTTTCCCCAGCAGGCAGCTGTATTTTTTCATTTCATTTCAATTTCATTTTATGTTCTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGGGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGATGGCTGTCACCATACCCGGCTAATTTCTTTTTGTATTTTGAGTAGCGATGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCAGCAGCCCTATTTTAATGCCATTTACTCTCCTGGCATGTGGCCTAAGTAGTGTCTCACCTCCGAATCTACAGGGTCCACAATGGAATCATTGAGGAATTTCACCATCACAAACTTCTTCAGGGCCATCAGGTTTTTCTTGTAGGACTCATTGATACCCTGAAAGAAAGGCCAGCAACACCTAAGGTCATTACCATCAGACACCAGCAGAGGGAGTAAAGCCTTCCTGTTTTCTGGTCTCCCTGACCCTGTGCCACTGTGTTTCTTCCCCATGGGTATGGGCTGTTTTCCAGCTTCCTGACCAGGATATACCTGTACAGCTTTTTTTTTTCTTTTTTTCTAAAAAACAAAATATTTTATTTTAGATTCAGGGGGGTACATGTGTAGTTTTGTTATAAGGGTATATTGTGTGATGCTGAGGTTTGGGGTTCTGTTGATCCTTTCACCCAGATAGTGAACACAGTGCCCAACAGGAAGTTTTTCAGCCCTAGCCTCTCCCTCCCAGCTTTTGGAGTCTCCAGTGTCTATTGTTCCCATCTTTATATTCACGTGTACCCAATGTTTAGCTCCCACTTATAAGTGAGAACATGTGATATTTGGTCTTCTGTTTCTGTGTTCATTTGCTTAGGATAACGGCCTCCAGCTGCATCCATGTTGCTGCAAAGAACAGGATTTCATTCTTTTTTATGACTGTGTAATATTCCATGGTGTATATGTACCACATTTTCTCTATCCAGTCTACCGCTGATGGGCACCTAGGTTGATTTCATGTCTTTGCTATGGTGAACAGTGCTGCAATAAACACGAGTGCAAGTGTCTTTTTGGCAGGACAATTTGTTTTCCTTTGGGTATATACCCAGTCACGGGATTGCTTACACAGCCTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCGAGGCCAGAGTGCAGTGGCACCATCTCAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGATCGCCACCACATCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTATAGGCTTTTCTTACCATCCTATCTGACTGACATGCCACTGAGCATGGCATACAGGTACAACTATGAGTTTACACCACACTCCATAGGTGTCCATCACATAGGTGAGAGGCTTCTAGTCAGAGAAAGCCAAGACAAAATAAGAAACTGCAAATTCTGGGTCGTTCTGCTATATACTATTCTGTGTTGTTTTTTGTTTGGTTTGTTTTTCCCTTCAAACTGTTTCAAAACAAAAAACCAAAAGACTCTCCAGATGAGTCAAATATAAACTGAGCCATCTAGTTTACCAGAACCTACCAAACCATGTTTGTGTCTGGGACATACTCAGTGCCTACTGTATCTCTCTTTTAGGTAAATCTCTAGAGAAAAATCCACCCCCAGACTGATCCATCAGGAAAGCTTCCCTCATTAAGACAGCAGCTGTGAATTTCCACCTCGCCCAGTCAGCAACCTGCCGAGCTTATCCTGTGTGTTTCAACACTAGGAGAGGGAAAGAACTTAAGGGAAGAAAGGCAAATGAATTTCAACCTCCCTAAAGGGAACTGAATCTCAAAGGCCCTGCCTCCCAAAAAAAACAGAACTTCTCTTTCCTAGTGTCTGCCCAGGACAGTTTGGGTAAACAGTCACTGCTGATTTGTTTATGAAGACCTAAACAGGAAAAAGAACGCACATCTATGGGAGCCCGGTTTGGGTGCTTACCCGCTCCTGATTTATATCTGCCAAGAAGATGCTGTGGTTGCGATACACATCCTCCTTTATGGGGTCATGCCAGTATTCGGCTTGCACGAGGCTGTAGGAAAAAAAAAGAATGAGGTGATCAAGCTACAGGTCAGTCAGTACGCCCAGGGCATGCTCAGTGCAAAGGCCACCAAGAGACTTTAAAAGGACAAAAGGCCAGCCAGGCACAGTGGCTC
|
GTAGCAGACTGTACCTCAGCCAAGGCAGCTAGTTTTAAAACCTTTTTATCAAAAGAAGGGAATCAGACATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGCAAAGGAAAGAAGCTCAGATATGACACACAGCACATACTGCCAAAATAATTTGAGACTGGTTAGAAGCTAAAACTGCCAACAAAGTGAACATCATAAAGCTGTAGGAAGAAGGAAAAATGGATAGGGTGCGTCTGAGTCATCTCTTCTTAAGGGTGGAGCCCGAGGGATGAGTTAATCTTTCTGAGAGGCCGCTTTCCACTTCCCCAGAATTTCTGCTTCCTAAAATTATTAAGCAATAAATGTGAAAAATTCCTGTGCTGAGCTCTAGACATTCAAGGATGAATACATAATCTGTTTCCAAAAAGCTCCCAGTCTTGCAAGGCACGGAAACAATTCACTGTTGAGTACAGAGGTCAGCAAACGTTTTTGTAAAGGCCAGATACAAAATATTTTAGGCTTTAAGGGCCATATGGTTGTAACTACTCATTGCTGCCACTGTAACAAATGCAGCCACAGACAGTATGTAAAAAGTAACTAAAACTGTTCCAATAAGGACACTGAAATTTAAATTTTACATAATCTTTATATGTCCAAATACTTGATATGTCTAAATAAATTTTACATAATCTTTATATGTCCAATTCTTTCCCCCAACCATTAAAAAATGTTAAAAACATTCTTTTATGTTAGTGTTTGGTGTTACTCGTGGGTAGCACCAAAACGGGTAGCAGGATGGACTGGGCCTGTGGGCCACAATCGGCCAATCCCTGGTGGTGTGACATAACGTGATGAGTGTTTTAACAGAGGCTGATGATTCTAAAAAAGCGATCACATTCTGCTTGGAATGGGGATGGCATCCTTGCCTTGACAGACGAATAGAAATTGTCAGGTGGAGAAGCCAAGGAAGGGCATTCTAGAGACAGAAATATATGAACCAAGGCATACGAGAGAAAAAGCACAAGTAGTACAATATGGCTTGATCAAGAGTGTATGAAGCGTGCAGACAAGGCAGATTAGGCTGGAAAATGGGGTGAAGCCAGATCAAGGCAGACCTTGGAGGCCAAGCTTAGGAATTTATATATTTTGGGCTAGTGATTCTGAACATTTTTTGGGTCTCTGATCTCTGGAAAATGGATTAAAATTATAGATCCTTCCCCAGAGAATGTAATTACATAATTTTGCATAGAATTTTGGGGTTGGGGGATTGATTACAATCTTCAGTGTCCCATTTATGGACCTCAGGTGAAGAACTGTTTTATACAAAAGTTGGTGGAAGGGACTGAAGGTTTTTTCCCCAGCAGGCAGCTGTATTTTTTCATTTCATTTCAATTTCATTTTATGTTCTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGGGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGATGGCTGTCACCATACCCGGCTAATTTCTTTTTGTATTTTGAGTAGCGATGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCAGCAGCCCTATTTTAATGCCATTTACTCTCCTGGCATGTGGCCTAAGTAGTGTCTCACCTCCGATCTACAGGGTCCACAATGGAATCATTGAGGAATTTCACCATCACAAACTTCTTCAGGGCCATCAGGTTTTTCTTGTAGGACTCATTGATACCCTGAAAGAAAGGCCAGCAACACCTAAGGTCATTACCATCAGACACCAGCAGAGGGAGTAAAGCCTTCCTGTTTTCTGGTCTCCCTGACCCTGTGCCACTGTGTTTCTTCCCCATGGGTATGGGCTGTTTTCCAGCTTCCTGACCAGGATATACCTGTACAGCTTTTTTTTTTCTTTTTTTCTAAAAAACAAAATATTTTATTTTAGATTCAGGGGGGTACATGTGTAGTTTTGTTATAAGGGTATATTGTGTGATGCTGAGGTTTGGGGTTCTGTTGATCCTTTCACCCAGATAGTGAACACAGTGCCCAACAGGAAGTTTTTCAGCCCTAGCCTCTCCCTCCCAGCTTTTGGAGTCTCCAGTGTCTATTGTTCCCATCTTTATATTCACGTGTACCCAATGTTTAGCTCCCACTTATAAGTGAGAACATGTGATATTTGGTCTTCTGTTTCTGTGTTCATTTGCTTAGGATAACGGCCTCCAGCTGCATCCATGTTGCTGCAAAGAACAGGATTTCATTCTTTTTTATGACTGTGTAATATTCCATGGTGTATATGTACCACATTTTCTCTATCCAGTCTACCGCTGATGGGCACCTAGGTTGATTTCATGTCTTTGCTATGGTGAACAGTGCTGCAATAAACACGAGTGCAAGTGTCTTTTTGGCAGGACAATTTGTTTTCCTTTGGGTATATACCCAGTCACGGGATTGCTTACACAGCCTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCGAGGCCAGAGTGCAGTGGCACCATCTCAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGATCGCCACCACATCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTATAGGCTTTTCTTACCATCCTATCTGACTGACATGCCACTGAGCATGGCATACAGGTACAACTATGAGTTTACACCACACTCCATAGGTGTCCATCACATAGGTGAGAGGCTTCTAGTCAGAGAAAGCCAAGACAAAATAAGAAACTGCAAATTCTGGGTCGTTCTGCTATATACTATTCTGTGTTGTTTTTTGTTTGGTTTGTTTTTCCCTTCAAACTGTTTCAAAACAAAAAACCAAAAGACTCTCCAGATGAGTCAAATATAAACTGAGCCATCTAGTTTACCAGAACCTACCAAACCATGTTTGTGTCTGGGACATACTCAGTGCCTACTGTATCTCTCTTTTAGGTAAATCTCTAGAGAAAAATCCACCCCCAGACTGATCCATCAGGAAAGCTTCCCTCATTAAGACAGCAGCTGTGAATTTCCACCTCGCCCAGTCAGCAACCTGCCGAGCTTATCCTGTGTGTTTCAACACTAGGAGAGGGAAAGAACTTAAGGGAAGAAAGGCAAATGAATTTCAACCTCCCTAAAGGGAACTGAATCTCAAAGGCCCTGCCTCCCAAAAAAAACAGAACTTCTCTTTCCTAGTGTCTGCCCAGGACAGTTTGGGTAAACAGTCACTGCTGATTTGTTTATGAAGACCTAAACAGGAAAAAGAACGCACATCTATGGGAGCCCGGTTTGGGTGCTTACCCGCTCCTGATTTATATCTGCCAAGAAGATGCTGTGGTTGCGATACACATCCTCCTTTATGGGGTCATGCCAGTATTCGGCTTGCACGAGGCTGTAGGAAAAAAAAAGAATGAGGTGATCAAGCTACAGGTCAGTCAGTACGCCCAGGGCATGCTCAGTGCAAAGGCCACCAAGAGACTTTAAAAGGACAAAAGGCCAGCCAGGCACAGTGGCTCN
|
pathogenic
| 6,980 |
Clinical significance of chromosome 1, position 40078632, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
ATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGCAAAGGAAAGAAGCTCAGATATGACACACAGCACATACTGCCAAAATAATTTGAGACTGGTTAGAAGCTAAAACTGCCAACAAAGTGAACATCATAAAGCTGTAGGAAGAAGGAAAAATGGATAGGGTGCGTCTGAGTCATCTCTTCTTAAGGGTGGAGCCCGAGGGATGAGTTAATCTTTCTGAGAGGCCGCTTTCCACTTCCCCAGAATTTCTGCTTCCTAAAATTATTAAGCAATAAATGTGAAAAATTCCTGTGCTGAGCTCTAGACATTCAAGGATGAATACATAATCTGTTTCCAAAAAGCTCCCAGTCTTGCAAGGCACGGAAACAATTCACTGTTGAGTACAGAGGTCAGCAAACGTTTTTGTAAAGGCCAGATACAAAATATTTTAGGCTTTAAGGGCCATATGGTTGTAACTACTCATTGCTGCCACTGTAACAAATGCAGCCACAGACAGTATGTAAAAAGTAACTAAAACTGTTCCAATAAGGACACTGAAATTTAAATTTTACATAATCTTTATATGTCCAAATACTTGATATGTCTAAATAAATTTTACATAATCTTTATATGTCCAATTCTTTCCCCCAACCATTAAAAAATGTTAAAAACATTCTTTTATGTTAGTGTTTGGTGTTACTCGTGGGTAGCACCAAAACGGGTAGCAGGATGGACTGGGCCTGTGGGCCACAATCGGCCAATCCCTGGTGGTGTGACATAACGTGATGAGTGTTTTAACAGAGGCTGATGATTCTAAAAAAGCGATCACATTCTGCTTGGAATGGGGATGGCATCCTTGCCTTGACAGACGAATAGAAATTGTCAGGTGGAGAAGCCAAGGAAGGGCATTCTAGAGACAGAAATATATGAACCAAGGCATACGAGAGAAAAAGCACAAGTAGTACAATATGGCTTGATCAAGAGTGTATGAAGCGTGCAGACAAGGCAGATTAGGCTGGAAAATGGGGTGAAGCCAGATCAAGGCAGACCTTGGAGGCCAAGCTTAGGAATTTATATATTTTGGGCTAGTGATTCTGAACATTTTTTGGGTCTCTGATCTCTGGAAAATGGATTAAAATTATAGATCCTTCCCCAGAGAATGTAATTACATAATTTTGCATAGAATTTTGGGGTTGGGGGATTGATTACAATCTTCAGTGTCCCATTTATGGACCTCAGGTGAAGAACTGTTTTATACAAAAGTTGGTGGAAGGGACTGAAGGTTTTTTCCCCAGCAGGCAGCTGTATTTTTTCATTTCATTTCAATTTCATTTTATGTTCTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGGGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGATGGCTGTCACCATACCCGGCTAATTTCTTTTTGTATTTTGAGTAGCGATGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCAGCAGCCCTATTTTAATGCCATTTACTCTCCTGGCATGTGGCCTAAGTAGTGTCTCACCTCCGAATCTACAGGGTCCACAATGGAATCATTGAGGAATTTCACCATCACAAACTTCTTCAGGGCCATCAGGTTTTTCTTGTAGGACTCATTGATACCCTGAAAGAAAGGCCAGCAACACCTAAGGTCATTACCATCAGACACCAGCAGAGGGAGTAAAGCCTTCCTGTTTTCTGGTCTCCCTGACCCTGTGCCACTGTGTTTCTTCCCCATGGGTATGGGCTGTTTTCCAGCTTCCTGACCAGGATATACCTGTACAGCTTTTTTTTTTCTTTTTTTCTAAAAAACAAAATATTTTATTTTAGATTCAGGGGGGTACATGTGTAGTTTTGTTATAAGGGTATATTGTGTGATGCTGAGGTTTGGGGTTCTGTTGATCCTTTCACCCAGATAGTGAACACAGTGCCCAACAGGAAGTTTTTCAGCCCTAGCCTCTCCCTCCCAGCTTTTGGAGTCTCCAGTGTCTATTGTTCCCATCTTTATATTCACGTGTACCCAATGTTTAGCTCCCACTTATAAGTGAGAACATGTGATATTTGGTCTTCTGTTTCTGTGTTCATTTGCTTAGGATAACGGCCTCCAGCTGCATCCATGTTGCTGCAAAGAACAGGATTTCATTCTTTTTTATGACTGTGTAATATTCCATGGTGTATATGTACCACATTTTCTCTATCCAGTCTACCGCTGATGGGCACCTAGGTTGATTTCATGTCTTTGCTATGGTGAACAGTGCTGCAATAAACACGAGTGCAAGTGTCTTTTTGGCAGGACAATTTGTTTTCCTTTGGGTATATACCCAGTCACGGGATTGCTTACACAGCCTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCGAGGCCAGAGTGCAGTGGCACCATCTCAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGATCGCCACCACATCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTATAGGCTTTTCTTACCATCCTATCTGACTGACATGCCACTGAGCATGGCATACAGGTACAACTATGAGTTTACACCACACTCCATAGGTGTCCATCACATAGGTGAGAGGCTTCTAGTCAGAGAAAGCCAAGACAAAATAAGAAACTGCAAATTCTGGGTCGTTCTGCTATATACTATTCTGTGTTGTTTTTTGTTTGGTTTGTTTTTCCCTTCAAACTGTTTCAAAACAAAAAACCAAAAGACTCTCCAGATGAGTCAAATATAAACTGAGCCATCTAGTTTACCAGAACCTACCAAACCATGTTTGTGTCTGGGACATACTCAGTGCCTACTGTATCTCTCTTTTAGGTAAATCTCTAGAGAAAAATCCACCCCCAGACTGATCCATCAGGAAAGCTTCCCTCATTAAGACAGCAGCTGTGAATTTCCACCTCGCCCAGTCAGCAACCTGCCGAGCTTATCCTGTGTGTTTCAACACTAGGAGAGGGAAAGAACTTAAGGGAAGAAAGGCAAATGAATTTCAACCTCCCTAAAGGGAACTGAATCTCAAAGGCCCTGCCTCCCAAAAAAAACAGAACTTCTCTTTCCTAGTGTCTGCCCAGGACAGTTTGGGTAAACAGTCACTGCTGATTTGTTTATGAAGACCTAAACAGGAAAAAGAACGCACATCTATGGGAGCCCGGTTTGGGTGCTTACCCGCTCCTGATTTATATCTGCCAAGAAGATGCTGTGGTTGCGATACACATCCTCCTTTATGGGGTCATGCCAGTATTCGGCTTGCACGAGGCTGTAGGAAAAAAAAAGAATGAGGTGATCAAGCTACAGGTCAGTCAGTACGCCCAGGGCATGCTCAGTGCAAAGGCCACCAAGAGACTTTAAAAGGACAAAAGGCCAGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAG
|
ATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGCAAAGGAAAGAAGCTCAGATATGACACACAGCACATACTGCCAAAATAATTTGAGACTGGTTAGAAGCTAAAACTGCCAACAAAGTGAACATCATAAAGCTGTAGGAAGAAGGAAAAATGGATAGGGTGCGTCTGAGTCATCTCTTCTTAAGGGTGGAGCCCGAGGGATGAGTTAATCTTTCTGAGAGGCCGCTTTCCACTTCCCCAGAATTTCTGCTTCCTAAAATTATTAAGCAATAAATGTGAAAAATTCCTGTGCTGAGCTCTAGACATTCAAGGATGAATACATAATCTGTTTCCAAAAAGCTCCCAGTCTTGCAAGGCACGGAAACAATTCACTGTTGAGTACAGAGGTCAGCAAACGTTTTTGTAAAGGCCAGATACAAAATATTTTAGGCTTTAAGGGCCATATGGTTGTAACTACTCATTGCTGCCACTGTAACAAATGCAGCCACAGACAGTATGTAAAAAGTAACTAAAACTGTTCCAATAAGGACACTGAAATTTAAATTTTACATAATCTTTATATGTCCAAATACTTGATATGTCTAAATAAATTTTACATAATCTTTATATGTCCAATTCTTTCCCCCAACCATTAAAAAATGTTAAAAACATTCTTTTATGTTAGTGTTTGGTGTTACTCGTGGGTAGCACCAAAACGGGTAGCAGGATGGACTGGGCCTGTGGGCCACAATCGGCCAATCCCTGGTGGTGTGACATAACGTGATGAGTGTTTTAACAGAGGCTGATGATTCTAAAAAAGCGATCACATTCTGCTTGGAATGGGGATGGCATCCTTGCCTTGACAGACGAATAGAAATTGTCAGGTGGAGAAGCCAAGGAAGGGCATTCTAGAGACAGAAATATATGAACCAAGGCATACGAGAGAAAAAGCACAAGTAGTACAATATGGCTTGATCAAGAGTGTATGAAGCGTGCAGACAAGGCAGATTAGGCTGGAAAATGGGGTGAAGCCAGATCAAGGCAGACCTTGGAGGCCAAGCTTAGGAATTTATATATTTTGGGCTAGTGATTCTGAACATTTTTTGGGTCTCTGATCTCTGGAAAATGGATTAAAATTATAGATCCTTCCCCAGAGAATGTAATTACATAATTTTGCATAGAATTTTGGGGTTGGGGGATTGATTACAATCTTCAGTGTCCCATTTATGGACCTCAGGTGAAGAACTGTTTTATACAAAAGTTGGTGGAAGGGACTGAAGGTTTTTTCCCCAGCAGGCAGCTGTATTTTTTCATTTCATTTCAATTTCATTTTATGTTCTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGGGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGATGGCTGTCACCATACCCGGCTAATTTCTTTTTGTATTTTGAGTAGCGATGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCAGCAGCCCTATTTTAATGCCATTTACTCTCCTGGCATGTGGCCTAAGTAGTGTCTCACCTCCGAATCTACAGGGTCCACAATGGAATCATTGAGGAATTTCACCATCACAAACTTCTTCAGGGCCATCAGGTTTTTTCTTGTAGGACTCATTGATACCCTGAAAGAAAGGCCAGCAACACCTAAGGTCATTACCATCAGACACCAGCAGAGGGAGTAAAGCCTTCCTGTTTTCTGGTCTCCCTGACCCTGTGCCACTGTGTTTCTTCCCCATGGGTATGGGCTGTTTTCCAGCTTCCTGACCAGGATATACCTGTACAGCTTTTTTTTTTCTTTTTTTCTAAAAAACAAAATATTTTATTTTAGATTCAGGGGGGTACATGTGTAGTTTTGTTATAAGGGTATATTGTGTGATGCTGAGGTTTGGGGTTCTGTTGATCCTTTCACCCAGATAGTGAACACAGTGCCCAACAGGAAGTTTTTCAGCCCTAGCCTCTCCCTCCCAGCTTTTGGAGTCTCCAGTGTCTATTGTTCCCATCTTTATATTCACGTGTACCCAATGTTTAGCTCCCACTTATAAGTGAGAACATGTGATATTTGGTCTTCTGTTTCTGTGTTCATTTGCTTAGGATAACGGCCTCCAGCTGCATCCATGTTGCTGCAAAGAACAGGATTTCATTCTTTTTTATGACTGTGTAATATTCCATGGTGTATATGTACCACATTTTCTCTATCCAGTCTACCGCTGATGGGCACCTAGGTTGATTTCATGTCTTTGCTATGGTGAACAGTGCTGCAATAAACACGAGTGCAAGTGTCTTTTTGGCAGGACAATTTGTTTTCCTTTGGGTATATACCCAGTCACGGGATTGCTTACACAGCCTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCGAGGCCAGAGTGCAGTGGCACCATCTCAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGATCGCCACCACATCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTATAGGCTTTTCTTACCATCCTATCTGACTGACATGCCACTGAGCATGGCATACAGGTACAACTATGAGTTTACACCACACTCCATAGGTGTCCATCACATAGGTGAGAGGCTTCTAGTCAGAGAAAGCCAAGACAAAATAAGAAACTGCAAATTCTGGGTCGTTCTGCTATATACTATTCTGTGTTGTTTTTTGTTTGGTTTGTTTTTCCCTTCAAACTGTTTCAAAACAAAAAACCAAAAGACTCTCCAGATGAGTCAAATATAAACTGAGCCATCTAGTTTACCAGAACCTACCAAACCATGTTTGTGTCTGGGACATACTCAGTGCCTACTGTATCTCTCTTTTAGGTAAATCTCTAGAGAAAAATCCACCCCCAGACTGATCCATCAGGAAAGCTTCCCTCATTAAGACAGCAGCTGTGAATTTCCACCTCGCCCAGTCAGCAACCTGCCGAGCTTATCCTGTGTGTTTCAACACTAGGAGAGGGAAAGAACTTAAGGGAAGAAAGGCAAATGAATTTCAACCTCCCTAAAGGGAACTGAATCTCAAAGGCCCTGCCTCCCAAAAAAAACAGAACTTCTCTTTCCTAGTGTCTGCCCAGGACAGTTTGGGTAAACAGTCACTGCTGATTTGTTTATGAAGACCTAAACAGGAAAAAGAACGCACATCTATGGGAGCCCGGTTTGGGTGCTTACCCGCTCCTGATTTATATCTGCCAAGAAGATGCTGTGGTTGCGATACACATCCTCCTTTATGGGGTCATGCCAGTATTCGGCTTGCACGAGGCTGTAGGAAAAAAAAAGAATGAGGTGATCAAGCTACAGGTCAGTCAGTACGCCCAGGGCATGCTCAGTGCAAAGGCCACCAAGAGACTTTAAAAGGACAAAAGGCCAGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCA
|
pathogenic
| 6,984 |
The mutation impacting PPT1 (palmitoyl-protein thioesterase 1) on chromosome 1 at position 40078655: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
AAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGCAAAGGAAAGAAGCTCAGATATGACACACAGCACATACTGCCAAAATAATTTGAGACTGGTTAGAAGCTAAAACTGCCAACAAAGTGAACATCATAAAGCTGTAGGAAGAAGGAAAAATGGATAGGGTGCGTCTGAGTCATCTCTTCTTAAGGGTGGAGCCCGAGGGATGAGTTAATCTTTCTGAGAGGCCGCTTTCCACTTCCCCAGAATTTCTGCTTCCTAAAATTATTAAGCAATAAATGTGAAAAATTCCTGTGCTGAGCTCTAGACATTCAAGGATGAATACATAATCTGTTTCCAAAAAGCTCCCAGTCTTGCAAGGCACGGAAACAATTCACTGTTGAGTACAGAGGTCAGCAAACGTTTTTGTAAAGGCCAGATACAAAATATTTTAGGCTTTAAGGGCCATATGGTTGTAACTACTCATTGCTGCCACTGTAACAAATGCAGCCACAGACAGTATGTAAAAAGTAACTAAAACTGTTCCAATAAGGACACTGAAATTTAAATTTTACATAATCTTTATATGTCCAAATACTTGATATGTCTAAATAAATTTTACATAATCTTTATATGTCCAATTCTTTCCCCCAACCATTAAAAAATGTTAAAAACATTCTTTTATGTTAGTGTTTGGTGTTACTCGTGGGTAGCACCAAAACGGGTAGCAGGATGGACTGGGCCTGTGGGCCACAATCGGCCAATCCCTGGTGGTGTGACATAACGTGATGAGTGTTTTAACAGAGGCTGATGATTCTAAAAAAGCGATCACATTCTGCTTGGAATGGGGATGGCATCCTTGCCTTGACAGACGAATAGAAATTGTCAGGTGGAGAAGCCAAGGAAGGGCATTCTAGAGACAGAAATATATGAACCAAGGCATACGAGAGAAAAAGCACAAGTAGTACAATATGGCTTGATCAAGAGTGTATGAAGCGTGCAGACAAGGCAGATTAGGCTGGAAAATGGGGTGAAGCCAGATCAAGGCAGACCTTGGAGGCCAAGCTTAGGAATTTATATATTTTGGGCTAGTGATTCTGAACATTTTTTGGGTCTCTGATCTCTGGAAAATGGATTAAAATTATAGATCCTTCCCCAGAGAATGTAATTACATAATTTTGCATAGAATTTTGGGGTTGGGGGATTGATTACAATCTTCAGTGTCCCATTTATGGACCTCAGGTGAAGAACTGTTTTATACAAAAGTTGGTGGAAGGGACTGAAGGTTTTTTCCCCAGCAGGCAGCTGTATTTTTTCATTTCATTTCAATTTCATTTTATGTTCTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGGGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGATGGCTGTCACCATACCCGGCTAATTTCTTTTTGTATTTTGAGTAGCGATGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCAGCAGCCCTATTTTAATGCCATTTACTCTCCTGGCATGTGGCCTAAGTAGTGTCTCACCTCCGAATCTACAGGGTCCACAATGGAATCATTGAGGAATTTCACCATCACAAACTTCTTCAGGGCCATCAGGTTTTTCTTGTAGGACTCATTGATACCCTGAAAGAAAGGCCAGCAACACCTAAGGTCATTACCATCAGACACCAGCAGAGGGAGTAAAGCCTTCCTGTTTTCTGGTCTCCCTGACCCTGTGCCACTGTGTTTCTTCCCCATGGGTATGGGCTGTTTTCCAGCTTCCTGACCAGGATATACCTGTACAGCTTTTTTTTTTCTTTTTTTCTAAAAAACAAAATATTTTATTTTAGATTCAGGGGGGTACATGTGTAGTTTTGTTATAAGGGTATATTGTGTGATGCTGAGGTTTGGGGTTCTGTTGATCCTTTCACCCAGATAGTGAACACAGTGCCCAACAGGAAGTTTTTCAGCCCTAGCCTCTCCCTCCCAGCTTTTGGAGTCTCCAGTGTCTATTGTTCCCATCTTTATATTCACGTGTACCCAATGTTTAGCTCCCACTTATAAGTGAGAACATGTGATATTTGGTCTTCTGTTTCTGTGTTCATTTGCTTAGGATAACGGCCTCCAGCTGCATCCATGTTGCTGCAAAGAACAGGATTTCATTCTTTTTTATGACTGTGTAATATTCCATGGTGTATATGTACCACATTTTCTCTATCCAGTCTACCGCTGATGGGCACCTAGGTTGATTTCATGTCTTTGCTATGGTGAACAGTGCTGCAATAAACACGAGTGCAAGTGTCTTTTTGGCAGGACAATTTGTTTTCCTTTGGGTATATACCCAGTCACGGGATTGCTTACACAGCCTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCGAGGCCAGAGTGCAGTGGCACCATCTCAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGATCGCCACCACATCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTATAGGCTTTTCTTACCATCCTATCTGACTGACATGCCACTGAGCATGGCATACAGGTACAACTATGAGTTTACACCACACTCCATAGGTGTCCATCACATAGGTGAGAGGCTTCTAGTCAGAGAAAGCCAAGACAAAATAAGAAACTGCAAATTCTGGGTCGTTCTGCTATATACTATTCTGTGTTGTTTTTTGTTTGGTTTGTTTTTCCCTTCAAACTGTTTCAAAACAAAAAACCAAAAGACTCTCCAGATGAGTCAAATATAAACTGAGCCATCTAGTTTACCAGAACCTACCAAACCATGTTTGTGTCTGGGACATACTCAGTGCCTACTGTATCTCTCTTTTAGGTAAATCTCTAGAGAAAAATCCACCCCCAGACTGATCCATCAGGAAAGCTTCCCTCATTAAGACAGCAGCTGTGAATTTCCACCTCGCCCAGTCAGCAACCTGCCGAGCTTATCCTGTGTGTTTCAACACTAGGAGAGGGAAAGAACTTAAGGGAAGAAAGGCAAATGAATTTCAACCTCCCTAAAGGGAACTGAATCTCAAAGGCCCTGCCTCCCAAAAAAAACAGAACTTCTCTTTCCTAGTGTCTGCCCAGGACAGTTTGGGTAAACAGTCACTGCTGATTTGTTTATGAAGACCTAAACAGGAAAAAGAACGCACATCTATGGGAGCCCGGTTTGGGTGCTTACCCGCTCCTGATTTATATCTGCCAAGAAGATGCTGTGGTTGCGATACACATCCTCCTTTATGGGGTCATGCCAGTATTCGGCTTGCACGAGGCTGTAGGAAAAAAAAAGAATGAGGTGATCAAGCTACAGGTCAGTCAGTACGCCCAGGGCATGCTCAGTGCAAAGGCCACCAAGAGACTTTAAAAGGACAAAAGGCCAGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTAGCCAAGATGGTGAAACCCC
|
AAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGCAAAGGAAAGAAGCTCAGATATGACACACAGCACATACTGCCAAAATAATTTGAGACTGGTTAGAAGCTAAAACTGCCAACAAAGTGAACATCATAAAGCTGTAGGAAGAAGGAAAAATGGATAGGGTGCGTCTGAGTCATCTCTTCTTAAGGGTGGAGCCCGAGGGATGAGTTAATCTTTCTGAGAGGCCGCTTTCCACTTCCCCAGAATTTCTGCTTCCTAAAATTATTAAGCAATAAATGTGAAAAATTCCTGTGCTGAGCTCTAGACATTCAAGGATGAATACATAATCTGTTTCCAAAAAGCTCCCAGTCTTGCAAGGCACGGAAACAATTCACTGTTGAGTACAGAGGTCAGCAAACGTTTTTGTAAAGGCCAGATACAAAATATTTTAGGCTTTAAGGGCCATATGGTTGTAACTACTCATTGCTGCCACTGTAACAAATGCAGCCACAGACAGTATGTAAAAAGTAACTAAAACTGTTCCAATAAGGACACTGAAATTTAAATTTTACATAATCTTTATATGTCCAAATACTTGATATGTCTAAATAAATTTTACATAATCTTTATATGTCCAATTCTTTCCCCCAACCATTAAAAAATGTTAAAAACATTCTTTTATGTTAGTGTTTGGTGTTACTCGTGGGTAGCACCAAAACGGGTAGCAGGATGGACTGGGCCTGTGGGCCACAATCGGCCAATCCCTGGTGGTGTGACATAACGTGATGAGTGTTTTAACAGAGGCTGATGATTCTAAAAAAGCGATCACATTCTGCTTGGAATGGGGATGGCATCCTTGCCTTGACAGACGAATAGAAATTGTCAGGTGGAGAAGCCAAGGAAGGGCATTCTAGAGACAGAAATATATGAACCAAGGCATACGAGAGAAAAAGCACAAGTAGTACAATATGGCTTGATCAAGAGTGTATGAAGCGTGCAGACAAGGCAGATTAGGCTGGAAAATGGGGTGAAGCCAGATCAAGGCAGACCTTGGAGGCCAAGCTTAGGAATTTATATATTTTGGGCTAGTGATTCTGAACATTTTTTGGGTCTCTGATCTCTGGAAAATGGATTAAAATTATAGATCCTTCCCCAGAGAATGTAATTACATAATTTTGCATAGAATTTTGGGGTTGGGGGATTGATTACAATCTTCAGTGTCCCATTTATGGACCTCAGGTGAAGAACTGTTTTATACAAAAGTTGGTGGAAGGGACTGAAGGTTTTTTCCCCAGCAGGCAGCTGTATTTTTTCATTTCATTTCAATTTCATTTTATGTTCTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGGGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGATGGCTGTCACCATACCCGGCTAATTTCTTTTTGTATTTTGAGTAGCGATGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCAGCAGCCCTATTTTAATGCCATTTACTCTCCTGGCATGTGGCCTAAGTAGTGTCTCACCTCCGAATCTACAGGGTCCACAATGGAATCATTGAGGAATTTCACCATCACAAACTTCTTCAGGGCCATCAGGTTTTTCTTGTAGGACTCATTGATACACCCTGAAAGAAAGGCCAGCAACACCTAAGGTCATTACCATCAGACACCAGCAGAGGGAGTAAAGCCTTCCTGTTTTCTGGTCTCCCTGACCCTGTGCCACTGTGTTTCTTCCCCATGGGTATGGGCTGTTTTCCAGCTTCCTGACCAGGATATACCTGTACAGCTTTTTTTTTTCTTTTTTTCTAAAAAACAAAATATTTTATTTTAGATTCAGGGGGGTACATGTGTAGTTTTGTTATAAGGGTATATTGTGTGATGCTGAGGTTTGGGGTTCTGTTGATCCTTTCACCCAGATAGTGAACACAGTGCCCAACAGGAAGTTTTTCAGCCCTAGCCTCTCCCTCCCAGCTTTTGGAGTCTCCAGTGTCTATTGTTCCCATCTTTATATTCACGTGTACCCAATGTTTAGCTCCCACTTATAAGTGAGAACATGTGATATTTGGTCTTCTGTTTCTGTGTTCATTTGCTTAGGATAACGGCCTCCAGCTGCATCCATGTTGCTGCAAAGAACAGGATTTCATTCTTTTTTATGACTGTGTAATATTCCATGGTGTATATGTACCACATTTTCTCTATCCAGTCTACCGCTGATGGGCACCTAGGTTGATTTCATGTCTTTGCTATGGTGAACAGTGCTGCAATAAACACGAGTGCAAGTGTCTTTTTGGCAGGACAATTTGTTTTCCTTTGGGTATATACCCAGTCACGGGATTGCTTACACAGCCTTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCGAGGCCAGAGTGCAGTGGCACCATCTCAGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGATCGCCACCACATCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTATAGGCTTTTCTTACCATCCTATCTGACTGACATGCCACTGAGCATGGCATACAGGTACAACTATGAGTTTACACCACACTCCATAGGTGTCCATCACATAGGTGAGAGGCTTCTAGTCAGAGAAAGCCAAGACAAAATAAGAAACTGCAAATTCTGGGTCGTTCTGCTATATACTATTCTGTGTTGTTTTTTGTTTGGTTTGTTTTTCCCTTCAAACTGTTTCAAAACAAAAAACCAAAAGACTCTCCAGATGAGTCAAATATAAACTGAGCCATCTAGTTTACCAGAACCTACCAAACCATGTTTGTGTCTGGGACATACTCAGTGCCTACTGTATCTCTCTTTTAGGTAAATCTCTAGAGAAAAATCCACCCCCAGACTGATCCATCAGGAAAGCTTCCCTCATTAAGACAGCAGCTGTGAATTTCCACCTCGCCCAGTCAGCAACCTGCCGAGCTTATCCTGTGTGTTTCAACACTAGGAGAGGGAAAGAACTTAAGGGAAGAAAGGCAAATGAATTTCAACCTCCCTAAAGGGAACTGAATCTCAAAGGCCCTGCCTCCCAAAAAAAACAGAACTTCTCTTTCCTAGTGTCTGCCCAGGACAGTTTGGGTAAACAGTCACTGCTGATTTGTTTATGAAGACCTAAACAGGAAAAAGAACGCACATCTATGGGAGCCCGGTTTGGGTGCTTACCCGCTCCTGATTTATATCTGCCAAGAAGATGCTGTGGTTGCGATACACATCCTCCTTTATGGGGTCATGCCAGTATTCGGCTTGCACGAGGCTGTAGGAAAAAAAAAGAATGAGGTGATCAAGCTACAGGTCAGTCAGTACGCCCAGGGCATGCTCAGTGCAAAGGCCACCAAGAGACTTTAAAAGGACAAAAGGCCAGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTAGCCAAGATGGTGAAACC
|
pathogenic
| 6,987 |
Gene PPT1 (palmitoyl-protein thioesterase 1) variant at chromosome 1, position 40089490—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
CATGTTGGCCAGGCTGGTCTTGAACTCCAGGCCTCAAGTGATCTGCCTACCAAGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACTGCGCCCCGCCTTAATCAGTATTTAGGTGTCACTTGTCACCCCCCGACGGACTGCTCACTTAGCATCACTAACAGAATTCTGATCGCCAAGGGTTGTTTTGGTTCACACAAAGAAAGAAAAGTATAGGCGTTTTGGAGGCAACTGGGCAAGAGTGAGAATAAAGAGTAAAGGAAGAAGAATGAAGTTTAAATACCATGCAAATCCATGAGAACAGAGAATATGTAGAATATAAATAATTAAGTTGTAATTAGCCACAGCCAATCAAACCAGGCAAAGGGGAAAGCTTGGTGTAGCCTGAGGGTAAAAAAAAGGAGCTAGAGGTACAGAGTATCTTAGTTTTCTATAATAACCATCAGGTGGTACTGCTGACCCAAAACAGCTTTGTGGCTATTTGTGTAGCCAACGAGTGGGAAAAGAAAAGACAGCTATTAGCTGTAGGTGGTTACAACATGAGTCAGTCACAAGGCTGTATCTTGGAAAATGGCTTCAAGAATATACTGTAATAAAAAGTTGTTATTTGACAAGAATGAGACACTTGGAAAACCCACAGGATATTAGTTGATCCCAAACTCCAGCTATCATCAAGAGCACGTCAGACCTACCATCAAAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCCTAGGCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTTTTTAAGTGATTCTCCTGCCTCAGCCTCCTGACTAGCTGAGATTACAGGCGTGCGCCACCACGCCCAGTTAATTTTTGCATTTTTAATAGAGACGGGATTTCACCATGTTGGTTAGGCTGGTCTTGAACTCTTGACCTCATGATCCACCTGCCTCCACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCACAACTTCTAAGGATAAAGCCCAGGAATCCATTTTTAATGAATTTCCCTGTGGTTCTGATATACAATTAAGTTTGGAACCAACTGAACAAGCACATACTACAAAAGTAATTCTGCATCTTTTTTTTTTTAAAAATAGATTTTAACAGAGACAGGGGTCTCACTATGTTGTTCAGACTGGTTGTGAACTTCTGGCTTCAAGCAATCCTCCTGCCTTGGCCTCTCAAAGAGCTGGGATTACAAGTGTGAGCCATTATGCCAGGCTGGCCATGCTAAATACCCAAATACATTTGAGTAGTCAGGGACAGTGATATAGGGAGTAGCTAATGACATAAAGAATCTGTCCTCTAAATACCAACAATAATTCCTTGAGCTTAGTACTTTCTAAAGGCTTTCTGTTTGTTTTTTAAGGATGGAAATTTATTCTGTTATAATTACATTCTTCTTACATAGAAAAATGCCCTTGTTTTTCTTTCTTTGTTTTTTAGTTAATAGACTTTTTGGAGCAAGTTTAGGTTTACAATGAAATTGAGCAGATAGTACAAAAAGATCTCATTTGAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTGAGCTCGGGAAGTTGGAGACCAGCCTAAACAACATGGAGAAACCCAGTCTCTTCTGAAAATACAAAATTAGCCAGGCGTAGTGGCGCATGCCTGTAATCCCAGCTACTCGGAGGCGGAGGCAGGAGACTCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGACAAAATCACGCCACTGCCCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAGATCTCATTTGAATATCACAAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAA
|
CATGTTGGCCAGGCTGGTCTTGAACTCCAGGCCTCAAGTGATCTGCCTACCAAGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACTGCGCCCCGCCTTAATCAGTATTTAGGTGTCACTTGTCACCCCCCGACGGACTGCTCACTTAGCATCACTAACAGAATTCTGATCGCCAAGGGTTGTTTTGGTTCACACAAAGAAAGAAAAGTATAGGCGTTTTGGAGGCAACTGGGCAAGAGTGAGAATAAAGAGTAAAGGAAGAAGAATGAAGTTTAAATACCATGCAAATCCATGAGAACAGAGAATATGTAGAATATAAATAATTAAGTTGTAATTAGCCACAGCCAATCAAACCAGGCAAAGGGGAAAGCTTGGTGTAGCCTGAGGGTAAAAAAAAGGAGCTAGAGGTACAGAGTATCTTAGTTTTCTATAATAACCATCAGGTGGTACTGCTGACCCAAAACAGCTTTGTGGCTATTTGTGTAGCCAACGAGTGGGAAAAGAAAAGACAGCTATTAGCTGTAGGTGGTTACAACATGAGTCAGTCACAAGGCTGTATCTTGGAAAATGGCTTCAAGAATATACTGTAATAAAAAGTTGTTATTTGACAAGAATGAGACACTTGGAAAACCCACAGGATATTAGTTGATCCCAAACTCCAGCTATCATCAAGAGCACGTCAGACCTACCATCAAAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCCTAGGCTAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTTTTTAAGTGATTCTCCTGCCTCAGCCTCCTGACTAGCTGAGATTACAGGCGTGCGCCACCACGCCCAGTTAATTTTTGCATTTTTAATAGAGACGGGATTTCACCATGTTGGTTAGGCTGGTCTTGAACTCTTGACCTCATGATCCACCTGCCTCCACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCACAACTTCTAAGGATAAAGCCCAGGAATCCATTTTTAATGAATTTCCCTGTGGTTCTGATATACAATTAAGTTTGGAACCAACTGAACAAGCACATACTACAAAAGTAATTCTGCATCTTTTTTTTTTTAAAAATAGATTTTAACAGAGACAGGGGTCTCACTATGTTGTTCAGACTGGTTGTGAACTTCTGGCTTCAAGCAATCCTCCTGCCTTGGCCTCTCAAAGAGCTGGGATTACAAGTGTGAGCCATTATGCCAGGCTGGCCATGCTAAATACCCAAATACATTTGAGTAGTCAGGGACAGTGATATAGGGAGTAGCTAATGACATAAAGAATCTGTCCTCTAAATACCAACAATAATTCCTTGAGCTTAGTACTTTCTAAAGGCTTTCTGTTTGTTTTTTAAGGATGGAAATTTATTCTGTTATAATTACATTCTTCTTACATAGAAAAATGCCCTTGTTTTTCTTTCTTTGTTTTTTAGTTAATAGACTTTTTGGAGCAAGTTTAGGTTTACAATGAAATTGAGCAGATAGTACAAAAAGATCTCATTTGAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTGAGCTCGGGAAGTTGGAGACCAGCCTAAACAACATGGAGAAACCCAGTCTCTTCTGAAAATACAAAATTAGCCAGGCGTAGTGGCGCATGCCTGTAATCCCAGCTACTCGGAGGCGGAGGCAGGAGACTCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGACAAAATCACGCCACTGCCCTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAGATCTCATTTGAATATCACAAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAAN
|
pathogenic
| 7,010 |
Mutation found at chromosome 1 position 40091320, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
benign
|
GCGAAACTCCATCTCAAAAAAAAAGATCTCATTTGAATATCACAAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGT
|
GCGAAACTCCATCTCAAAAAAAAAGATCTCATTTGAATATCACAAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTNN
|
benign
| 7,016 |
Determine whether the variant at chromosome 1, position 40091363, in gene PPT1 (palmitoyl-protein thioesterase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_1']
|
AAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTG
|
AAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCCTCATGAAAATAAAGCGCAGAGAACTAATACTATCACCAGCTTCCTCCTGGTGCTGCTACACTCTTTCCTGCCTAAGGATCTTTTTACCTGCTCATCCCTGGAGGATGTGTTGCATCACATGGCTGGACGCATTTTCAGCTCTCAGGTCTTGGTCCTACACAAGTCACATCTGACCACCTTATCTCAAATAGTACCCACCCCCATTTCCTTCCCCTCCCCCAGTTATACTTCATCCTTAGCATCCTCATCAATAACATTGTTTTGAGTAACACAAATAGTTCTAAGCAAAATATTGGCAATAATTAATTTAATCCTCACAACCACCCTGTGGAGTAGATTTCATTATTTGCCCTATATCACAGATAGAAAACTGTAAAAATGAGGTTAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCTGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGN
|
pathogenic
| 7,021 |
Located at chromosome 1 position 40092068, the variant affecting gene PPT1 (palmitoyl-protein thioesterase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
TAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCA
|
TAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCAN
|
pathogenic
| 7,031 |
Is the variant located on chromosome 1 at position 40092109, gene PPT1 (palmitoyl-protein thioesterase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
GATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTC
|
GATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCT
|
pathogenic
| 7,034 |
Variant at chromosome position 40092149, chromosome 1, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_1']
|
TAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGAC
|
TAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACNNN
|
pathogenic
| 7,036 |
Clinically, how would you classify the variant at chromosome 1, position 40092447, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
TCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTCACAGACCCAGGGAGTTTGGGACCCCCGCTCTAGGGCAC
|
TCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTCACAGACCCAGGGAGTTTGGGACCCCCGCTCTAGGGCACN
|
pathogenic
| 7,044 |
Mutation found at chromosome 1 position 40092456, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
GTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTCACAGACCCAGGGAGTTTGGGACCCCCGCTCTAGGGCACAAAATTTAA
|
GTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTCACAGACCCAGGGAGTTTGGGACCCCCGCTCTAGGGCACAAAATTTAAN
|
pathogenic
| 7,046 |
Determine if the mutation at chromosome 1, position 40092462 in gene PPT1 (palmitoyl-protein thioesterase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_1']
|
GTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTCACAGACCCAGGGAGTTTGGGACCCCCGCTCTAGGGCACAAAATTTAAGGAGGC
|
GTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAAGATACCAAATTACTTGCCTAGGAGTAATAGTTAATTGGGTGAGTCCAGGTTTCCTGATTACACGGAGAATCATTCTGCTCCCACATTATACCAGCTAATAGCTATACCCATCAACAACAGAGATGAAATTCCATTCTAATGACACATCCTTCCCCAATAGTATGGAATTCCGTCAAAATAGAAAACCTGCTGTTTCTCAAAGAGTTTAAATTTATAGACACAAGAGCTTACACACTATTCTTTGCCTAAGCCTAAATTCAAGAGGATACCACCAAATCAGAGAACAGAAAAGGTCACTCAATTTTCCTAACTCCTCAACCACCACCTGCCACGTGGCTATAACCATCTTACTTCCATGCAATCGTGTCAATGAAATTGGAGAGAAGTAGATGCCAACCTAGTGATCCAGGCCTCTGGAATCCTAAGTCTCTTCCTATGTCTCCAGCAATGCTGGCTAGTTTGTTAAAAGCTAGAGAAACAGGATTTTGCAAGAATGGCTGATGTCTTGTGCAAATATAGTTCCTAGATTTTTTTTTAAATCAGGTGGTCATGTGGGTTAGAATACAGAAAAAAGAAAGCAAAGAGGCAAAGTTACCTTGATGTTGTCCCCCAACCGAGATCAGATTGATCATGGGAGGTGAAGGGCATCTCTGAGCCACTGCCCTCCTACGGAATAAAAGGGAGTTTTAGCTCCGACTGTCAGATGGAAATGTATCATCCACAATCAGCATCACAGATTAAGCTAGTCATCCTCTGTGACTCCCCAAACCCGCAGAGTTTCAGGATTTTCCTGATATGGGCAAATGCAAATATTTCTTTCAACTTTCATAGAAAATAAATTAAGCTCCAGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTAGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTAGGTGTGGTGGTGAGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGACGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGAGAAATTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAATTAAGTTCCATAAAGCTTCTTACACAGGAACATTTTAGGAAATTTCCCTTCCAAGATAGGTGACAATCTTGAATTGGAGGAGTGGATTTATCTGAATAAAAGAAACAAAAATCAATTCCATATAAGTGGTACAATATAACAAAAAGGAACGTACAGAAATTGGCCTCCCTGGGAGAATCCCATAGCATTGTAGCCTTGCTGCAATTTAGGATCCTTAGCAAGTGCCTGACACACTGTTGTTACTTGGGAATTGACATTCAAGAAGAAGCTGTTCTCCACGTCCTAAAAAAGAAGCCAGAGAGAAGTGAGAGGATGGGACTGAAAACAACCACTGACATCTTCTCTAAGAGGTAAACTCATTTAGGTTGGTATCCTCACATGAGCCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTCACAGACCCAGGGAGTTTGGGACCCCCGCTCTAGGGCACAAAATTTAAGGAGG
|
pathogenic
| 7,047 |
Is chromosome 1, position 40097197, gene PPT1 (palmitoyl-protein thioesterase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
CATGACCTATCAACATTTGATGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGGCAGCCGGGCGACGCCATCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGC
|
CATGACCTATCAACATTTGATGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGCCAAGAGCCACAGGCAGCCGGGCGACGCCATCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTT
|
pathogenic
| 7,054 |
Variant in gene PPT1 (palmitoyl-protein thioesterase 1), located at chromosome 1 position 40097197: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
CATGACCTATCAACATTTGATGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGGCAGCCGGGCGACGCCATCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGC
|
CATGACCTATCAACATTTGATGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGGCAGCCGGGCGACGCCATCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGCNNNNNNNNNNNNN
|
pathogenic
| 7,055 |
Clinically, how would you classify the variant at chromosome 1, position 40097217, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1', 'PPT1-related_disorder']
|
TGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGGCAGCCGGGCGACGCCATCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGCTTATTGTATAAGCATTTTAT
|
TGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGCCGGGCGACGCCATCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGCTTATTGTATAAGCATTTTATNNNN
|
pathogenic
| 7,058 |
Variant chromosome 1, position 40097232, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? Disease(s)?
|
pathogenic; ['Neuronal_ceroid_lipofuscinosis_1']
|
CCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGGCAGCCGGGCGACGCCATCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGCTTATTGTATAAGCATTTTATTTTAACTTAAGACTT
|
CCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGCGCCCGAGAAGCGCAGGTCCATGGCAGGAGAGCCACAGCCAAGAGCCACAGGCAGCCGGGCGAGCCATCTTCGCTGTGTCACATGACCGCGGGCGCGAGACTCCGGGAACCGCGCTCCGCCCGCCTGGGCGTGGCGCCGCCGGTTGCAGATCGCAACCTGCGCATCCCGAACGGATGCCCAGCCTGATGGGCGTCGGCCCTACCCTGGAGCTTTCAGCGCGACAGGTCCCCCGCCAGACCCCGCTGGCCGAGTGGGGCTCTGCGCTCTCGTAGACCGCCCTCTGCGGTGAATCAAAATAATTGCTAACATATATTCAGTGCTGATCAGATGCTATCAGGCACTATTCTTACAACCTTTAACTAATTCACTCTTCATAACAATGCTGTATGCACTTCTCCCCCTGACAGGTGAGGACACTGAGGCACTGCGAATTGGCACTGAGTAAGGTGCCCAAGGTCACAGAGATAGCAAATTGGTGGTTCCAAAGTCGTTGCTCTTCACCACTGCCCTGTACTGCCTTTGCAAGAAACATGCACAGAGGAAGGAAGAAAGAAGGAGGGACGGTTTCCAGCCAGGACCAATCATGGCAGGGTGTGGGGTTTGTTCTGGATATTGAAGGAGAGGTAGGATTTCAACAAGCAAAGATGAAATTCAGAAGGACTGAGATGAGCTAAGGTAGAGAGGAGAAAGACAACTGTGTTTTCTAGAAATGTCGGGACTTCAAGACGGACGAAAGCATATGTTGGATGCATAAGAGTGAGGGGGAAACCCATGGCCACTAACTGGCCTAATCTCAGCTGGATTATTTCAAGGGTCTCTCATCAACCATTTCCTTTTCCATTCTCTCCTCTTTAATTCATTTTATGCTCTATTGCCACATTCATCCCTCAATCCACCTTCATAATATCAGTTCCCTGCTCAAGTTTTTTTTCAACAAAACATCAAAAAATAGTTTAAATAATTTATAAAGAAATTAGAGTGTATCCACTATACAATGGAATAATATGAGGCCAGTTTTATAAAAAATGAGTATAGGGCCGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATCTAAGGTAGCGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAATTACAAAATTAGCCGGGTGTGGTGGCGCATACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCGGTAAGCTGAGATCATACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAATAAGAATAAAAAATAAATAAAAAGAGAGTACAGCCCAGGCAGCATAGCAAGACCCCATCTCTACAAAAAAAAAATTTTTTTTTAATTAGCCAGGGGTGGTGGTATGTGCCTGTAATCCTAGCTACTGGGGAGGCTAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCATTGAGCTATGATCTCGCCATTGCACTGAGCTATGATCTCGCTGTTGCCCTGGGCAACAGTGAGACCCTGTCTCTCTCAAAAAAGAAAAATGAGGTAAATTTACATAAAGTGACATGAAAAATGCCCTTAATATGTTGTAAAAGAAAAGTCGATTACAAACCCACGGTCTGTAATCTCTTCTATTCCATGCCATTGGGACTAGAGGTAAGTTGTTAGTTGAAAAGTCGATTAAAATGCAGAATCCACTGGGCGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATTGAGCTACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAGAAAAAAAAATGCAGAATCATAAAGCATTATACAGTACAGTATACAGTTTTGTTTTAAGAAAAATAAGCTTATTGTATAAGCATTTTATTTTAACTTAAGACTTN
|
pathogenic
| 7,060 |
Mutation at chromosome 1, position 40258319, within ZMPSTE24: benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Lethal_tight_skin_contracture_syndrome']
|
TAAATTCAAATAGTTGCAATGGATGTAAATTCTTGCAAATTGTAAATACTGACATTTTAAGATAAAACTGTTAAATCACTCTTTATAATGTATCCAAGAGAATCTACATAACAACTGAATAACCACCATTATGCATTAAAACATACACTAATGAGCTCTTCAACATTGTTCTTTTATTATCTCTAACATATTTAGATTGTACTCTAACAAAAAATGTTATTCAAATATAGTACTTTGATGTTTGAACAACCTTTTCTTGATCACTTCTTCGCAATAAAAATATGACATATGTAGTAAACCTTAAAAAATTTCGTGTAACTTTATGGCTCTACGCTGGAATTCTTCTGAAGTGAGTAATCATCACAATCATCTTTAGTATATAATGGATCAAAATGACACGATTGCAAATATTGATAACACACAGTTATAAAAGGTGAAATTCTATTGGGAACACATCTCTTAGTGAGATAGATGGGGCTGACCCACCAATTAATTCATTTATCTGGATGAATAGTTCCTACTGGTAGATTAACAGGGTTCATTTTCAATTCTGTTGTTTTCACAGATACAAGTGCTGAGAAATGGTTTTACATAAATAGGTGAGAATGCTAGTAGTTTTGTTGTAAGCATGTCAATCAATCGTTTGGTTTCTTTCCGAGTTGCATGCCAAAAACCAAATAGTGTTCCTTCATCAGCTGACAATTCATGGGCCACCATTAATTTTGTTGAAAGCAAAGAACTGGAAACCATCTGACTTGAAAAGAATTTGTTATCCTGTTATTAGAGTCATTCACTTTCTCTAGTGACTTTTAATTATACTAATTACTCTCAGAGGCATTTAGGCAGGGTTGAGAAATTCAAGATATTAATTTCAACACATCTTTAGCATCACAATATCACAGTAATTTAAATATATTTTAGTTGTAGCTATTTAGCTCACTTTATTGTAAATAATAATTATGCTAATTAGCAACGATAGTATGTTTAACCAATTAATCATCAGATTAACTTTCGGTCAGAATAATGGACTTCAATTTTTAAGTCAAAGCAATGTACAGGCGTCCCAGTCACCATATTTCACTTCTGAATTCCAAGAGAGAAATGGCGTTGCGCCTTACTGACGCAAATATGTACCTAGATAAAGTAAGACGCTTTCATTTCAGGTATGTCTAACCCACGCTATCCTTGCTTTGTTCCAGGGCACTCTCGCAGGGAAAACGCCGCCTCTGACTACACTTGGGGTGGTTAAGACGAGATCTTCAAATGAAAATTCTCAACGCTACCGTCCACTCTCTCATACGCTTGAATTCCGAACACCCCAATACTGGCCAAAAGACTCCATTTCTCATGCTTGGTCTTGCTTTTGAGGTAGCTCTAACTCAGAGGCACGATTTTTAGAGCCTGGGAAGTCGGCTGCTGTTCAGTCCTTCCTAGCCTCCTCAGGCGGGAGCCGCGGCCCACTCAGTCAGTTGCGGCCCACTCAGTCAGTTCCGGCCCCAGCCCCGACTACCTGTCGCCTTGTTGGGGGAAGGAAGGCAGATACCGCAGCCCAGTCAGGGTAAGCCGCTGACCCAGAGGATGGAACTGCGGCTCTGGAGATTAGAAAGAGGAGGACTTCGCCGCGTTCACTAGCCCAGGAGGAAAGCCAGAACCCTAGGCCGGAACCCAGCGTCAAGACGTGGGGGAAGAATGTTGATGCAACACAGCTCAGCCGGGCCCGGAACTCGGCGTTTGGGTCCCCGCCCTCTTTGGGCCGGAAGTGAGGAAGGTGGGGCTGGGGCTTTTCCTGTAGAAACTAGGAGGGACTAGGGAGAGTCTGCAAGGGGAAGAGTGTGTCTGTGACACTGCCAGCAGCGCGCAGAGGGAGGGATGGGGGCGGGTATCGGCGTAGGGGCCCTCGGAAAGAACGGATATTGCTGTGACACCGCGGGGACGCTCTGAAGGGACGAGTGTCGGTGTGGCACCGGTGCACGCTGAAGGAGCCGGCGGAACCGGGTGGCCATGGGGATGTGGGCATCGCTGGACGCTTTGTGGGAGATGCCGGCCGAGAAGCGTATCTTCGGGGCCGTGCTGCTCTTTTCCTGGACAGTGTATCTTTGGGAGACCTTCCTAGCACAGCGGCAGGTGAGCCTAGACAGGGTCCAACCTGACCCCCATACCCGGCCAGCCCTGGAGTAGCCTTGGCTTCGACCCTGAGACTCTTGATTGCTTCGGTCCCCGCGCCAGTCTCGTCTTTGTGGTCCCTGCTGAGTCTCGTAACTTGGCCCGATGGCGGACTGTGGCTTTGAGGAGGGTCTTGGTGCGTCAAGGAAGTTTTCTGTAACGTTATCATGGGACCCAATCCCTTTAGGGCCTGGAGGAAGGCTTGGGCTCTTGTGCCCTCCCTGCAGCTTCCTTGGGATCCTTGGGCCCAGACTTGGCCTCCTTTATCTTTGGAATAAGCCTTTAAAAGGATTTAGACACCCAACTTCCTCATGACATTTATGTAATCATGCCTAACCATAGGATTTTGCAGTCCTTCCAAGAACTTGCACTCTTGTTTCTCCTTAAAGTGCATATATTGTTTCTGCTTGAAAAAACAAACAAACAAACAAAAAACTTATCGGGCCCGGCGTGGTGTCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGCGAAAACCCGTCTCTACTAAAAATAGAAAAATTAGCCGGGTGTGGTGGCGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGTAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAAACTCAATCTCAAAATAAATAAATAAATGAAATTAAATGAAATATATTTCTCGTTTTTCATAAAATCAACATTATTTTAGTTTAAATATTAAAATGGTAAAATAAAAAGTGAAAGTTAACAATTTACCTGAGATAACCATGGTTTAGAGATCTGAACTTTTATTTATTTATTTTTAATCTTTATTTATTTATTTAATTTTAGAGTCTAGCTCTGTCACCAGGCTGGAGTACAGTGGCGTTATCTCGGCTCACTGCAAGAAACTAGGAGGGACGAGGGAGAGTCTGCAAGGGGAAGAGTGTGTCTGTGACACTGCCAGCAGCGCGCAGAGGGAGGGATGTTCAAATGATTCTCCTGCCTCAGCATCCCGAGTAGCTAGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTAGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGATAGAATATTTATTGTATTTAGAGACAGGGGCTCACTCTGCCACCCAGACTGGAGCACAGTAGCATCATCATAGCTCAAGGCAGCCTCGAACTCGTGGGCTCAAACGACCCCTCCACCTCCACCTCAGCCTTCTGAGTTGCTAGGACCACAGGTGCGGATCACTGTGCCTGGCTAATTGTTTGATTTTTTTGTAGAGATGTTGCCCGGGGTGGTCTGGAGTTCCTGGACTCAAGTCATCTTGCCGCCTCCACCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACCGTGCTCGATCTCCCCTCAGCTTTTATTGGCACACAACAATATATAGGGAAAGCATGTTGTAGTGGCCCATTATTTTGTTTGGTATCCATTCTCTGTATTACATTTCCTGGACTGAAATTACCCTTACCTTTTATAATTTAGTATAATGAGATAGTTGATCTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTAAGGAGATAGATTCTCTGTCACCCAGGGTGTAGTGCTGTGGCACAATATGGGCTTACTGCAACCTCTGCCTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCCCCCAAATAGCTGGGACCACAGGTGCATACCACCACACTCTGCTAATTTTTGTATTTTTTGTAGAGACGGGATTTCACCACATTGCTCAGGCCAGTCTTGAACTCCTGGGCTCAAGGAATCCTTCTGCCCCTGTCTTCCAAACTGCTGGGATTACAGGCGTGACCCACCGTGCCCGGCTGAAAAT
|
TAAATTCAAATAGTTGCAATGGATGTAAATTCTTGCAAATTGTAAATACTGACATTTTAAGATAAAACTGTTAAATCACTCTTTATAATGTATCCAAGAGAATCTACATAACAACTGAATAACCACCATTATGCATTAAAACATACACTAATGAGCTCTTCAACATTGTTCTTTTATTATCTCTAACATATTTAGATTGTACTCTAACAAAAAATGTTATTCAAATATAGTACTTTGATGTTTGAACAACCTTTTCTTGATCACTTCTTCGCAATAAAAATATGACATATGTAGTAAACCTTAAAAAATTTCGTGTAACTTTATGGCTCTACGCTGGAATTCTTCTGAAGTGAGTAATCATCACAATCATCTTTAGTATATAATGGATCAAAATGACACGATTGCAAATATTGATAACACACAGTTATAAAAGGTGAAATTCTATTGGGAACACATCTCTTAGTGAGATAGATGGGGCTGACCCACCAATTAATTCATTTATCTGGATGAATAGTTCCTACTGGTAGATTAACAGGGTTCATTTTCAATTCTGTTGTTTTCACAGATACAAGTGCTGAGAAATGGTTTTACATAAATAGGTGAGAATGCTAGTAGTTTTGTTGTAAGCATGTCAATCAATCGTTTGGTTTCTTTCCGAGTTGCATGCCAAAAACCAAATAGTGTTCCTTCATCAGCTGACAATTCATGGGCCACCATTAATTTTGTTGAAAGCAAAGAACTGGAAACCATCTGACTTGAAAAGAATTTGTTATCCTGTTATTAGAGTCATTCACTTTCTCTAGTGACTTTTAATTATACTAATTACTCTCAGAGGCATTTAGGCAGGGTTGAGAAATTCAAGATATTAATTTCAACACATCTTTAGCATCACAATATCACAGTAATTTAAATATATTTTAGTTGTAGCTATTTAGCTCACTTTATTGTAAATAATAATTATGCTAATTAGCAACGATAGTATGTTTAACCAATTAATCATCAGATTAACTTTCGGTCAGAATAATGGACTTCAATTTTTAAGTCAAAGCAATGTACAGGCGTCCCAGTCACCATATTTCACTTCTGAATTCCAAGAGAGAAATGGCGTTGCGCCTTACTGACGCAAATATGTACCTAGATAAAGTAAGACGCTTTCATTTCAGGTATGTCTAACCCACGCTATCCTTGCTTTGTTCCAGGGCACTCTCGCAGGGAAAACGCCGCCTCTGACTACACTTGGGGTGGTTAAGACGAGATCTTCAAATGAAAATTCTCAACGCTACCGTCCACTCTCTCATACGCTTGAATTCCGAACACCCCAATACTGGCCAAAAGACTCCATTTCTCATGCTTGGTCTTGCTTTTGAGGTAGCTCTAACTCAGAGGCACGATTTTTAGAGCCTGGGAAGTCGGCTGCTGTTCAGTCCTTCCTAGCCTCCTCAGGCGGGAGCCGCGGCCCACTCAGTCAGTTGCGGCCCACTCAGTCAGTTCCGGCCCCAGCCCCGACTACCTGTCGCCTTGTTGGGGGAAGGAAGGCAGATACCGCAGCCCAGTCAGGGTAAGCCGCTGACCCAGAGGATGGAACTGCGGCTCTGGAGATTAGAAAGAGGAGGACTTCGCCGCGTTCACTAGCCCAGGAGGAAAGCCAGAACCCTAGGCCGGAACCCAGCGTCAAGACGTGGGGGAAGAATGTTGATGCAACACAGCTCAGCCGGGCCCGGAACTCGGCGTTTGGGTCCCCGCCCTCTTTGGGCCGGAAGTGAGGAAGGTGGGGCTGGGGCTTTTCCTGTAGAAACTAGGAGGGACTAGGGAGAGTCTGCAAGGGGAAGAGTGTGTCTGTGACACTGCCAGCAGCGCGCAGAGGGAGGGATGGGGGCGGGTATCGGCGTAGGGGCCCTCGGAAAGAACGGATATTGCTGTGACACCGCGGGGACGCTCTGAAGGGACGAGTGTCGGTGTGGCACCGGTGCACGCTGAAGGAGCCGGCGGAACCGGGTGGCCATGGGGATGTGGGCATCGCTGGACGCTTTGTGGGAGATGCCGGCCGAGAGCGTATCTTCGGGGCCGTGCTGCTCTTTTCCTGGACAGTGTATCTTTGGGAGACCTTCCTAGCACAGCGGCAGGTGAGCCTAGACAGGGTCCAACCTGACCCCCATACCCGGCCAGCCCTGGAGTAGCCTTGGCTTCGACCCTGAGACTCTTGATTGCTTCGGTCCCCGCGCCAGTCTCGTCTTTGTGGTCCCTGCTGAGTCTCGTAACTTGGCCCGATGGCGGACTGTGGCTTTGAGGAGGGTCTTGGTGCGTCAAGGAAGTTTTCTGTAACGTTATCATGGGACCCAATCCCTTTAGGGCCTGGAGGAAGGCTTGGGCTCTTGTGCCCTCCCTGCAGCTTCCTTGGGATCCTTGGGCCCAGACTTGGCCTCCTTTATCTTTGGAATAAGCCTTTAAAAGGATTTAGACACCCAACTTCCTCATGACATTTATGTAATCATGCCTAACCATAGGATTTTGCAGTCCTTCCAAGAACTTGCACTCTTGTTTCTCCTTAAAGTGCATATATTGTTTCTGCTTGAAAAAACAAACAAACAAACAAAAAACTTATCGGGCCCGGCGTGGTGTCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCAACGTGGCGAAAACCCGTCTCTACTAAAAATAGAAAAATTAGCCGGGTGTGGTGGCGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGTAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAAACTCAATCTCAAAATAAATAAATAAATGAAATTAAATGAAATATATTTCTCGTTTTTCATAAAATCAACATTATTTTAGTTTAAATATTAAAATGGTAAAATAAAAAGTGAAAGTTAACAATTTACCTGAGATAACCATGGTTTAGAGATCTGAACTTTTATTTATTTATTTTTAATCTTTATTTATTTATTTAATTTTAGAGTCTAGCTCTGTCACCAGGCTGGAGTACAGTGGCGTTATCTCGGCTCACTGCAAGAAACTAGGAGGGACGAGGGAGAGTCTGCAAGGGGAAGAGTGTGTCTGTGACACTGCCAGCAGCGCGCAGAGGGAGGGATGTTCAAATGATTCTCCTGCCTCAGCATCCCGAGTAGCTAGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTAGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGATAGAATATTTATTGTATTTAGAGACAGGGGCTCACTCTGCCACCCAGACTGGAGCACAGTAGCATCATCATAGCTCAAGGCAGCCTCGAACTCGTGGGCTCAAACGACCCCTCCACCTCCACCTCAGCCTTCTGAGTTGCTAGGACCACAGGTGCGGATCACTGTGCCTGGCTAATTGTTTGATTTTTTTGTAGAGATGTTGCCCGGGGTGGTCTGGAGTTCCTGGACTCAAGTCATCTTGCCGCCTCCACCTCCCAAAGGGCTGGGATTACAGGCATGAGCCACCGTGCTCGATCTCCCCTCAGCTTTTATTGGCACACAACAATATATAGGGAAAGCATGTTGTAGTGGCCCATTATTTTGTTTGGTATCCATTCTCTGTATTACATTTCCTGGACTGAAATTACCCTTACCTTTTATAATTTAGTATAATGAGATAGTTGATCTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTAAGGAGATAGATTCTCTGTCACCCAGGGTGTAGTGCTGTGGCACAATATGGGCTTACTGCAACCTCTGCCTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCCCCCAAATAGCTGGGACCACAGGTGCATACCACCACACTCTGCTAATTTTTGTATTTTTTGTAGAGACGGGATTTCACCACATTGCTCAGGCCAGTCTTGAACTCCTGGGCTCAAGGAATCCTTCTGCCCCTGTCTTCCAAACTGCTGGGATTACAGGCGTGACCCACCGTGCCCGGCTGAAAATN
|
pathogenic
| 7,075 |
Variant chromosome 1, position 40290870, gene ZMPSTE24 (zinc metallopeptidase STE24): benign or pathogenic? Disease(s)?
|
pathogenic; ['Lethal_tight_skin_contracture_syndrome', 'Mandibuloacral_dysplasia_with_type_B_lipodystrophy', 'Restrictive_dermopathy_1', 'ZMPSTE24-related_disorder']
|
ATAATTCAGCCGAACCATTTTTTTCCCACTGCCAATAAATTAGGATATATATCCTTGCCTCAGGCTCTCTCTCCTCCCAGGCTGAGTAGACAGTGAGATATACACCTTAAAGTTCACCTCACCGAGAGTAATTCCCTTCACCACTGCCTTCCAAGACCATCCCTGAGTGGCTCTGTAATACCACAGCAGTCCACTTTCATCTGGTGCCAGCATATTGTATTAAGTTATTGTAAAATAGGCTCTGATTTTGTTCCTGTTCAACTAATTGATTATAGGGAACAGCATATGAGTAAGGGTTGGTTGAGGGTTGTTGGTGGTAGGAGTTGGTGTACTAGAGTATGAGCCATCTGCTTATTTAACTTACTGGTGCCTTCATAACTTGCTTCATTTCCACTCTTATATCTACCACTTGTCCTTGATGATGAAGTGCTTCTGCGCATAGCAGTTTCCTGGCTAGGCAGATTAACAGATTAACATAGCACCCAGTTCAGAAGGGATAGTTCAGTTTGCAGGATCACAGTATCCCATGGCCAGGAATTCAGTCTGTAGTAGGGCCCAGTAGCAAACCAAAAGTTATTTTTCAAAAGGACAATGGTTACTTGACAAAAGTGGATGCATAGATTATAAGTGTAGGAGACTTCACTGAGTTTTCTGTTGGAGCTTGTCATATTGGATCCACTGAGTTATAAGGATGAGTGTCGAAGCTGCTTGTCCTGGGGCAGCTGGTGAGCCTTCTTATGCTCTAAGCCCCATTCTAAGCTGACAGCTTCTTGGGTCATCTCGTTTGGGTCAAATGGTTTGAAGCAACACACTTAAATAAGGTACATGTGGCCTCCAAGATCCTAATTTGCACAGAAAAAGAATGTTGTGTGTTCTCCAACCTTACTCCAAGAGGTTGTATTTTGGTATAGATTTTTTATTTTTTTCTCCTCTCATTTATTGATCAAGATGGATCTACTTTTCCCCCTGACCTTTCTAACTATCTGGTACAGCTCCAGTGGGCCTAGAGAGGATTCAAGGGAAGCCTGTTTCTTTGGAGCCTCCGCTTCAAAGTCAGGTGGGAGGCGTTGTATCTGATTACAGTGTTATAAAACAAGGCCAGAATCCATTCTAGCCCTTCACCCTTTTACAGAGAGAAAATATCCCATTGCTATTGACCACTTCAAACCCTCAATGATAGGAGCCTCAACTTAAGCTTGCCCTTATAGAAAATGATACAGTTTATACATTTGGGAACATTTTATTTTACTTTTGAAATAAAAGTGAAACTAAAAACTACTGGCGGGGCAGTATGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGTGGATCATCTGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCGGGCATGGTGGGGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATGGCGTGAACATGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGAGCTCCACCCTGGGCGACAGAGTGAGATCTGTCTCAAAAAAAGCTACTTAAATAATTTGTTCTGTGATCACACTAATACCTTTCTTAAAATCACACTATGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATCCGCCACCACGTCCGGCTAATTTTTTCTGCATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACACTGTGATTTCTTATACTTTATGGATGCTACTGATCCCATAGTGAAATCAGCTTGGTAATAACTTAGAAATTTCATGTCCTTCTTTCTAGATGAATTCTTTCCTGTGTTTTTTTTTATTTGCTGTATTAATTGGTCGAAAGGAGCTTTTTGCTGCATTTGGTTTTTATGATAGCCAACCCACTCTTATTGGACTATTGATCATCTTCCAGTTTATTTTTTCACCTTACAATGAGGTAATGTATGATCTTTAAAATTATCACACATATGCTCTTGCCTGCTTCAAATCTAGAGCTTTCAGGATAGTGAAAAAGGAAATAGAACAGTACAGTTTTAACAAATAGATGAAACAAAGTCTTTTAGTCCCCTGATTCACTGGTCAGTATGACAAAGTAGCAGAAAAATTCAAGCCCAAATAAATAAACGTTTGCATACTCTTAGGAAAGTATAAGTAGAAAACTAGACTTCAGTGGTGAACACCTAAAAGGACTCGGTAGATGGAGATTAACTATTGGAATGTTGTGTCCTAGGCCACATATTCACCAGTGCTTGGGTAAAAATCTTATGTGTATGAGGGGACAAAGCAAACACTAATTGGTACAGCTCAGTAAGGGAGGCTTAGTGACTGTTCCTCTGCTCCATGACCACCTGCCTCCATATAGCCTGAGGGATCCACCCAAACCCACAAAATCAAAATCGGGTATTTTGTGGTAAATGAAACTTAAGAACATTGCTCTGTGTTAGCTCATTAGGGGTATTCCGTGTGAGTGATAATACATAGGTTAATGTGAGACTATATAACAAACCTGACAATGGCATCATTTCATGATGTTTGGTAAGGCTTCCAAATTAAGCTAAGAAATAATATTGAAGATCTTGAGGTATCTCCATTCAGAAGAATTCTTTCTTGGGATAGATTGTAGAGTTAAGATGAGCTAAATGAATTATATTTTTCTATTATGTATGGTGGGGACACCAGGAAAGAAAAATGGAGGGGCATAGATCATATTCATATAGCATTGTCCACATAAACAAAAATAAATTTGGCAGAGAACTGAGATGTATTATCTTAAAACTCTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGGGGTGTCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACCCATCACCACGCCCAGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCTTCCCAAAAGTGCTGGGATTACAGGTGTGAGGCACCACACCCGGCCTGAGCATGACTTTTGAGTCTCATGTCAGCACTCAAAAGTTTCAGATTTTGGAACATTTCAGATTTCAAGTTTTTGGTTAGGGATGTTTAACTTTTATATGTGTTTCTGGCCTGTTTGCTTGGGGGAGAATAAGGCTCAATTTATAATTTCCTCACCCTAGGTCCCCTAAATATTAGTGATCTTTCTTTTGTCCTGCCATTCCTCTTATCCCAAGCCAAACTTCTCTACAGTCTCAGCTCATGGAACCTTTAGTAACAACAAAGAGGTGGGCAGTGGCTAAAACCCTTTCATTTTCTTTTTCAGGTTCTTTCTTTTTGCCTAACAGTCCTAAGCCGCAGATTTGAGTTTCAAGCTGATGCATTTGCCAAGAAACTTGGGAAGGCTAAAGACTTATATTCTGCTTTAATCAAACTTAACAAAGATAACTTGGGATTCCCTGTTTCTGACTGGTTGTTCTCAATGTGGCATTATTCTCATCCTCCACTGCTAGAGAGACTTCAAGCTTTGAAAACTATGAAGCAACACTGAGATGTCCAGGATCTGTGACTGAAGACATTTCTGATTATTTCTGTCCTGGCAGCATGTTCCAGCTCTTGATGTTTTTAAACTTTTTTTTAGAAGAAAAATTAAGTACAGAAAAGCCCAGATTTAAATACATTTAATATGTCATTTTAAAAATGATTTTAATAATTCATTTCTTAAAACACTGAATGAATTTTGAAGCTTAATGTTTTTAAAGGCATAGTTTTATCTTTGACATCTAATTTACCATCAAG
|
ATAATTCAGCCGAACCATTTTTTTCCCACTGCCAATAAATTAGGATATATATCCTTGCCTCAGGCTCTCTCTCCTCCCAGGCTGAGTAGACAGTGAGATATACACCTTAAAGTTCACCTCACCGAGAGTAATTCCCTTCACCACTGCCTTCCAAGACCATCCCTGAGTGGCTCTGTAATACCACAGCAGTCCACTTTCATCTGGTGCCAGCATATTGTATTAAGTTATTGTAAAATAGGCTCTGATTTTGTTCCTGTTCAACTAATTGATTATAGGGAACAGCATATGAGTAAGGGTTGGTTGAGGGTTGTTGGTGGTAGGAGTTGGTGTACTAGAGTATGAGCCATCTGCTTATTTAACTTACTGGTGCCTTCATAACTTGCTTCATTTCCACTCTTATATCTACCACTTGTCCTTGATGATGAAGTGCTTCTGCGCATAGCAGTTTCCTGGCTAGGCAGATTAACAGATTAACATAGCACCCAGTTCAGAAGGGATAGTTCAGTTTGCAGGATCACAGTATCCCATGGCCAGGAATTCAGTCTGTAGTAGGGCCCAGTAGCAAACCAAAAGTTATTTTTCAAAAGGACAATGGTTACTTGACAAAAGTGGATGCATAGATTATAAGTGTAGGAGACTTCACTGAGTTTTCTGTTGGAGCTTGTCATATTGGATCCACTGAGTTATAAGGATGAGTGTCGAAGCTGCTTGTCCTGGGGCAGCTGGTGAGCCTTCTTATGCTCTAAGCCCCATTCTAAGCTGACAGCTTCTTGGGTCATCTCGTTTGGGTCAAATGGTTTGAAGCAACACACTTAAATAAGGTACATGTGGCCTCCAAGATCCTAATTTGCACAGAAAAAGAATGTTGTGTGTTCTCCAACCTTACTCCAAGAGGTTGTATTTTGGTATAGATTTTTTATTTTTTTCTCCTCTCATTTATTGATCAAGATGGATCTACTTTTCCCCCTGACCTTTCTAACTATCTGGTACAGCTCCAGTGGGCCTAGAGAGGATTCAAGGGAAGCCTGTTTCTTTGGAGCCTCCGCTTCAAAGTCAGGTGGGAGGCGTTGTATCTGATTACAGTGTTATAAAACAAGGCCAGAATCCATTCTAGCCCTTCACCCTTTTACAGAGAGAAAATATCCCATTGCTATTGACCACTTCAAACCCTCAATGATAGGAGCCTCAACTTAAGCTTGCCCTTATAGAAAATGATACAGTTTATACATTTGGGAACATTTTATTTTACTTTTGAAATAAAAGTGAAACTAAAAACTACTGGCGGGGCAGTATGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGTGGATCATCTGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCGGGCATGGTGGGGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATGGCGTGAACATGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGAGCTCCACCCTGGGCGACAGAGTGAGATCTGTCTCAAAAAAAGCTACTTAAATAATTTGTTCTGTGATCACACTAATACCTTTCTTAAAATCACACTATGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATCCGCCACCACGTCCGGCTAATTTTTTCTGCATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACACTGTGATTTCTTATACTTTATGGATGCTACTGATCCCATAGTGAAATCAGCTTGGTAATAACTTAGAAATTTCATGTCCTTCTTTCTAGATGAATTCTTTCCTGTGTTTTTTTTTTATTTGCTGTATTAATTGGTCGAAAGGAGCTTTTTGCTGCATTTGGTTTTTATGATAGCCAACCCACTCTTATTGGACTATTGATCATCTTCCAGTTTATTTTTTCACCTTACAATGAGGTAATGTATGATCTTTAAAATTATCACACATATGCTCTTGCCTGCTTCAAATCTAGAGCTTTCAGGATAGTGAAAAAGGAAATAGAACAGTACAGTTTTAACAAATAGATGAAACAAAGTCTTTTAGTCCCCTGATTCACTGGTCAGTATGACAAAGTAGCAGAAAAATTCAAGCCCAAATAAATAAACGTTTGCATACTCTTAGGAAAGTATAAGTAGAAAACTAGACTTCAGTGGTGAACACCTAAAAGGACTCGGTAGATGGAGATTAACTATTGGAATGTTGTGTCCTAGGCCACATATTCACCAGTGCTTGGGTAAAAATCTTATGTGTATGAGGGGACAAAGCAAACACTAATTGGTACAGCTCAGTAAGGGAGGCTTAGTGACTGTTCCTCTGCTCCATGACCACCTGCCTCCATATAGCCTGAGGGATCCACCCAAACCCACAAAATCAAAATCGGGTATTTTGTGGTAAATGAAACTTAAGAACATTGCTCTGTGTTAGCTCATTAGGGGTATTCCGTGTGAGTGATAATACATAGGTTAATGTGAGACTATATAACAAACCTGACAATGGCATCATTTCATGATGTTTGGTAAGGCTTCCAAATTAAGCTAAGAAATAATATTGAAGATCTTGAGGTATCTCCATTCAGAAGAATTCTTTCTTGGGATAGATTGTAGAGTTAAGATGAGCTAAATGAATTATATTTTTCTATTATGTATGGTGGGGACACCAGGAAAGAAAAATGGAGGGGCATAGATCATATTCATATAGCATTGTCCACATAAACAAAAATAAATTTGGCAGAGAACTGAGATGTATTATCTTAAAACTCTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGGGGTGTCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACCCATCACCACGCCCAGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCTTCCCAAAAGTGCTGGGATTACAGGTGTGAGGCACCACACCCGGCCTGAGCATGACTTTTGAGTCTCATGTCAGCACTCAAAAGTTTCAGATTTTGGAACATTTCAGATTTCAAGTTTTTGGTTAGGGATGTTTAACTTTTATATGTGTTTCTGGCCTGTTTGCTTGGGGGAGAATAAGGCTCAATTTATAATTTCCTCACCCTAGGTCCCCTAAATATTAGTGATCTTTCTTTTGTCCTGCCATTCCTCTTATCCCAAGCCAAACTTCTCTACAGTCTCAGCTCATGGAACCTTTAGTAACAACAAAGAGGTGGGCAGTGGCTAAAACCCTTTCATTTTCTTTTTCAGGTTCTTTCTTTTTGCCTAACAGTCCTAAGCCGCAGATTTGAGTTTCAAGCTGATGCATTTGCCAAGAAACTTGGGAAGGCTAAAGACTTATATTCTGCTTTAATCAAACTTAACAAAGATAACTTGGGATTCCCTGTTTCTGACTGGTTGTTCTCAATGTGGCATTATTCTCATCCTCCACTGCTAGAGAGACTTCAAGCTTTGAAAACTATGAAGCAACACTGAGATGTCCAGGATCTGTGACTGAAGACATTTCTGATTATTTCTGTCCTGGCAGCATGTTCCAGCTCTTGATGTTTTTAAACTTTTTTTTAGAAGAAAAATTAAGTACAGAAAAGCCCAGATTTAAATACATTTAATATGTCATTTTAAAAATGATTTTAATAATTCATTTCTTAAAACACTGAATGAATTTTGAAGCTTAATGTTTTTAAAGGCATAGTTTTATCTTTGACATCTAATTTACCATCAA
|
pathogenic
| 7,092 |
Chromosome 1, position 40290925, gene ZMPSTE24 (zinc metallopeptidase STE24): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Mandibuloacral_dysplasia_with_type_B_lipodystrophy', 'ZMPSTE24-related_disorder']
|
TGCCTCAGGCTCTCTCTCCTCCCAGGCTGAGTAGACAGTGAGATATACACCTTAAAGTTCACCTCACCGAGAGTAATTCCCTTCACCACTGCCTTCCAAGACCATCCCTGAGTGGCTCTGTAATACCACAGCAGTCCACTTTCATCTGGTGCCAGCATATTGTATTAAGTTATTGTAAAATAGGCTCTGATTTTGTTCCTGTTCAACTAATTGATTATAGGGAACAGCATATGAGTAAGGGTTGGTTGAGGGTTGTTGGTGGTAGGAGTTGGTGTACTAGAGTATGAGCCATCTGCTTATTTAACTTACTGGTGCCTTCATAACTTGCTTCATTTCCACTCTTATATCTACCACTTGTCCTTGATGATGAAGTGCTTCTGCGCATAGCAGTTTCCTGGCTAGGCAGATTAACAGATTAACATAGCACCCAGTTCAGAAGGGATAGTTCAGTTTGCAGGATCACAGTATCCCATGGCCAGGAATTCAGTCTGTAGTAGGGCCCAGTAGCAAACCAAAAGTTATTTTTCAAAAGGACAATGGTTACTTGACAAAAGTGGATGCATAGATTATAAGTGTAGGAGACTTCACTGAGTTTTCTGTTGGAGCTTGTCATATTGGATCCACTGAGTTATAAGGATGAGTGTCGAAGCTGCTTGTCCTGGGGCAGCTGGTGAGCCTTCTTATGCTCTAAGCCCCATTCTAAGCTGACAGCTTCTTGGGTCATCTCGTTTGGGTCAAATGGTTTGAAGCAACACACTTAAATAAGGTACATGTGGCCTCCAAGATCCTAATTTGCACAGAAAAAGAATGTTGTGTGTTCTCCAACCTTACTCCAAGAGGTTGTATTTTGGTATAGATTTTTTATTTTTTTCTCCTCTCATTTATTGATCAAGATGGATCTACTTTTCCCCCTGACCTTTCTAACTATCTGGTACAGCTCCAGTGGGCCTAGAGAGGATTCAAGGGAAGCCTGTTTCTTTGGAGCCTCCGCTTCAAAGTCAGGTGGGAGGCGTTGTATCTGATTACAGTGTTATAAAACAAGGCCAGAATCCATTCTAGCCCTTCACCCTTTTACAGAGAGAAAATATCCCATTGCTATTGACCACTTCAAACCCTCAATGATAGGAGCCTCAACTTAAGCTTGCCCTTATAGAAAATGATACAGTTTATACATTTGGGAACATTTTATTTTACTTTTGAAATAAAAGTGAAACTAAAAACTACTGGCGGGGCAGTATGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGTGGATCATCTGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCGGGCATGGTGGGGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATGGCGTGAACATGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGAGCTCCACCCTGGGCGACAGAGTGAGATCTGTCTCAAAAAAAGCTACTTAAATAATTTGTTCTGTGATCACACTAATACCTTTCTTAAAATCACACTATGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATCCGCCACCACGTCCGGCTAATTTTTTCTGCATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACACTGTGATTTCTTATACTTTATGGATGCTACTGATCCCATAGTGAAATCAGCTTGGTAATAACTTAGAAATTTCATGTCCTTCTTTCTAGATGAATTCTTTCCTGTGTTTTTTTTTATTTGCTGTATTAATTGGTCGAAAGGAGCTTTTTGCTGCATTTGGTTTTTATGATAGCCAACCCACTCTTATTGGACTATTGATCATCTTCCAGTTTATTTTTTCACCTTACAATGAGGTAATGTATGATCTTTAAAATTATCACACATATGCTCTTGCCTGCTTCAAATCTAGAGCTTTCAGGATAGTGAAAAAGGAAATAGAACAGTACAGTTTTAACAAATAGATGAAACAAAGTCTTTTAGTCCCCTGATTCACTGGTCAGTATGACAAAGTAGCAGAAAAATTCAAGCCCAAATAAATAAACGTTTGCATACTCTTAGGAAAGTATAAGTAGAAAACTAGACTTCAGTGGTGAACACCTAAAAGGACTCGGTAGATGGAGATTAACTATTGGAATGTTGTGTCCTAGGCCACATATTCACCAGTGCTTGGGTAAAAATCTTATGTGTATGAGGGGACAAAGCAAACACTAATTGGTACAGCTCAGTAAGGGAGGCTTAGTGACTGTTCCTCTGCTCCATGACCACCTGCCTCCATATAGCCTGAGGGATCCACCCAAACCCACAAAATCAAAATCGGGTATTTTGTGGTAAATGAAACTTAAGAACATTGCTCTGTGTTAGCTCATTAGGGGTATTCCGTGTGAGTGATAATACATAGGTTAATGTGAGACTATATAACAAACCTGACAATGGCATCATTTCATGATGTTTGGTAAGGCTTCCAAATTAAGCTAAGAAATAATATTGAAGATCTTGAGGTATCTCCATTCAGAAGAATTCTTTCTTGGGATAGATTGTAGAGTTAAGATGAGCTAAATGAATTATATTTTTCTATTATGTATGGTGGGGACACCAGGAAAGAAAAATGGAGGGGCATAGATCATATTCATATAGCATTGTCCACATAAACAAAAATAAATTTGGCAGAGAACTGAGATGTATTATCTTAAAACTCTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGGGGTGTCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACCCATCACCACGCCCAGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCTTCCCAAAAGTGCTGGGATTACAGGTGTGAGGCACCACACCCGGCCTGAGCATGACTTTTGAGTCTCATGTCAGCACTCAAAAGTTTCAGATTTTGGAACATTTCAGATTTCAAGTTTTTGGTTAGGGATGTTTAACTTTTATATGTGTTTCTGGCCTGTTTGCTTGGGGGAGAATAAGGCTCAATTTATAATTTCCTCACCCTAGGTCCCCTAAATATTAGTGATCTTTCTTTTGTCCTGCCATTCCTCTTATCCCAAGCCAAACTTCTCTACAGTCTCAGCTCATGGAACCTTTAGTAACAACAAAGAGGTGGGCAGTGGCTAAAACCCTTTCATTTTCTTTTTCAGGTTCTTTCTTTTTGCCTAACAGTCCTAAGCCGCAGATTTGAGTTTCAAGCTGATGCATTTGCCAAGAAACTTGGGAAGGCTAAAGACTTATATTCTGCTTTAATCAAACTTAACAAAGATAACTTGGGATTCCCTGTTTCTGACTGGTTGTTCTCAATGTGGCATTATTCTCATCCTCCACTGCTAGAGAGACTTCAAGCTTTGAAAACTATGAAGCAACACTGAGATGTCCAGGATCTGTGACTGAAGACATTTCTGATTATTTCTGTCCTGGCAGCATGTTCCAGCTCTTGATGTTTTTAAACTTTTTTTTAGAAGAAAAATTAAGTACAGAAAAGCCCAGATTTAAATACATTTAATATGTCATTTTAAAAATGATTTTAATAATTCATTTCTTAAAACACTGAATGAATTTTGAAGCTTAATGTTTTTAAAGGCATAGTTTTATCTTTGACATCTAATTTACCATCAAGTTGTAAAATTATTTGGAAAAATACAGAACTCGTTTTATTTGTATACTTATATGGA
|
TGCCTCAGGCTCTCTCTCCTCCCAGGCTGAGTAGACAGTGAGATATACACCTTAAAGTTCACCTCACCGAGAGTAATTCCCTTCACCACTGCCTTCCAAGACCATCCCTGAGTGGCTCTGTAATACCACAGCAGTCCACTTTCATCTGGTGCCAGCATATTGTATTAAGTTATTGTAAAATAGGCTCTGATTTTGTTCCTGTTCAACTAATTGATTATAGGGAACAGCATATGAGTAAGGGTTGGTTGAGGGTTGTTGGTGGTAGGAGTTGGTGTACTAGAGTATGAGCCATCTGCTTATTTAACTTACTGGTGCCTTCATAACTTGCTTCATTTCCACTCTTATATCTACCACTTGTCCTTGATGATGAAGTGCTTCTGCGCATAGCAGTTTCCTGGCTAGGCAGATTAACAGATTAACATAGCACCCAGTTCAGAAGGGATAGTTCAGTTTGCAGGATCACAGTATCCCATGGCCAGGAATTCAGTCTGTAGTAGGGCCCAGTAGCAAACCAAAAGTTATTTTTCAAAAGGACAATGGTTACTTGACAAAAGTGGATGCATAGATTATAAGTGTAGGAGACTTCACTGAGTTTTCTGTTGGAGCTTGTCATATTGGATCCACTGAGTTATAAGGATGAGTGTCGAAGCTGCTTGTCCTGGGGCAGCTGGTGAGCCTTCTTATGCTCTAAGCCCCATTCTAAGCTGACAGCTTCTTGGGTCATCTCGTTTGGGTCAAATGGTTTGAAGCAACACACTTAAATAAGGTACATGTGGCCTCCAAGATCCTAATTTGCACAGAAAAAGAATGTTGTGTGTTCTCCAACCTTACTCCAAGAGGTTGTATTTTGGTATAGATTTTTTATTTTTTTCTCCTCTCATTTATTGATCAAGATGGATCTACTTTTCCCCCTGACCTTTCTAACTATCTGGTACAGCTCCAGTGGGCCTAGAGAGGATTCAAGGGAAGCCTGTTTCTTTGGAGCCTCCGCTTCAAAGTCAGGTGGGAGGCGTTGTATCTGATTACAGTGTTATAAAACAAGGCCAGAATCCATTCTAGCCCTTCACCCTTTTACAGAGAGAAAATATCCCATTGCTATTGACCACTTCAAACCCTCAATGATAGGAGCCTCAACTTAAGCTTGCCCTTATAGAAAATGATACAGTTTATACATTTGGGAACATTTTATTTTACTTTTGAAATAAAAGTGAAACTAAAAACTACTGGCGGGGCAGTATGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGTGGATCATCTGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCGGGCATGGTGGGGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATGGCGTGAACATGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGAGCTCCACCCTGGGCGACAGAGTGAGATCTGTCTCAAAAAAAGCTACTTAAATAATTTGTTCTGTGATCACACTAATACCTTTCTTAAAATCACACTATGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATCCGCCACCACGTCCGGCTAATTTTTTCTGCATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACACTGTGATTTCTTATACTTTATGGATGCTACTGATCCCATAGTGAAATCAGCTTGGTAATAACTTAGAAATTTCATGTCCTTCTTTCTAGATGAATTCTTTCCTGTGTTTTTTTTTATTTGCTGTATTAATTGGTCGAAAGGAGCTTTTTGCTGCATTTGGTTGATAGCCAACCCACTCTTATTGGACTATTGATCATCTTCCAGTTTATTTTTTCACCTTACAATGAGGTAATGTATGATCTTTAAAATTATCACACATATGCTCTTGCCTGCTTCAAATCTAGAGCTTTCAGGATAGTGAAAAAGGAAATAGAACAGTACAGTTTTAACAAATAGATGAAACAAAGTCTTTTAGTCCCCTGATTCACTGGTCAGTATGACAAAGTAGCAGAAAAATTCAAGCCCAAATAAATAAACGTTTGCATACTCTTAGGAAAGTATAAGTAGAAAACTAGACTTCAGTGGTGAACACCTAAAAGGACTCGGTAGATGGAGATTAACTATTGGAATGTTGTGTCCTAGGCCACATATTCACCAGTGCTTGGGTAAAAATCTTATGTGTATGAGGGGACAAAGCAAACACTAATTGGTACAGCTCAGTAAGGGAGGCTTAGTGACTGTTCCTCTGCTCCATGACCACCTGCCTCCATATAGCCTGAGGGATCCACCCAAACCCACAAAATCAAAATCGGGTATTTTGTGGTAAATGAAACTTAAGAACATTGCTCTGTGTTAGCTCATTAGGGGTATTCCGTGTGAGTGATAATACATAGGTTAATGTGAGACTATATAACAAACCTGACAATGGCATCATTTCATGATGTTTGGTAAGGCTTCCAAATTAAGCTAAGAAATAATATTGAAGATCTTGAGGTATCTCCATTCAGAAGAATTCTTTCTTGGGATAGATTGTAGAGTTAAGATGAGCTAAATGAATTATATTTTTCTATTATGTATGGTGGGGACACCAGGAAAGAAAAATGGAGGGGCATAGATCATATTCATATAGCATTGTCCACATAAACAAAAATAAATTTGGCAGAGAACTGAGATGTATTATCTTAAAACTCTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGGGGTGTCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACCCATCACCACGCCCAGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCTTCCCAAAAGTGCTGGGATTACAGGTGTGAGGCACCACACCCGGCCTGAGCATGACTTTTGAGTCTCATGTCAGCACTCAAAAGTTTCAGATTTTGGAACATTTCAGATTTCAAGTTTTTGGTTAGGGATGTTTAACTTTTATATGTGTTTCTGGCCTGTTTGCTTGGGGGAGAATAAGGCTCAATTTATAATTTCCTCACCCTAGGTCCCCTAAATATTAGTGATCTTTCTTTTGTCCTGCCATTCCTCTTATCCCAAGCCAAACTTCTCTACAGTCTCAGCTCATGGAACCTTTAGTAACAACAAAGAGGTGGGCAGTGGCTAAAACCCTTTCATTTTCTTTTTCAGGTTCTTTCTTTTTGCCTAACAGTCCTAAGCCGCAGATTTGAGTTTCAAGCTGATGCATTTGCCAAGAAACTTGGGAAGGCTAAAGACTTATATTCTGCTTTAATCAAACTTAACAAAGATAACTTGGGATTCCCTGTTTCTGACTGGTTGTTCTCAATGTGGCATTATTCTCATCCTCCACTGCTAGAGAGACTTCAAGCTTTGAAAACTATGAAGCAACACTGAGATGTCCAGGATCTGTGACTGAAGACATTTCTGATTATTTCTGTCCTGGCAGCATGTTCCAGCTCTTGATGTTTTTAAACTTTTTTTTAGAAGAAAAATTAAGTACAGAAAAGCCCAGATTTAAATACATTTAATATGTCATTTTAAAAATGATTTTAATAATTCATTTCTTAAAACACTGAATGAATTTTGAAGCTTAATGTTTTTAAAGGCATAGTTTTATCTTTGACATCTAATTTACCATCAAGTTGTAAAATTATTTGGAAAAATACAGAACTCGTTTTATTTGTATACTTATATGGANNNNN
|
pathogenic
| 7,093 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 40302811, gene COL9A2 (collagen type IX alpha 2 chain): what disease(s) if pathogenic?
|
benign
|
CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGGGGAGATGGTTTCCTGGACTGGGGATGGGTGCATGTCCACCCAGAGGGGACCTGGTCCTTCCCGCCAGGATGCCTGCCAGGCTCTGTCTGGGCCTGATGCTCAAGGCCCCTTGATGGATCCAGGCTCTGTAAGGCGGGCAGAGGCATAGGCCGAAGCTCCAAGGCAGGCGGCAGGTTCACAGAAGCCCGGCAGCCCCACGGGGCCTGGCAGGCCAGGTCGACCTGCCTCTCCTGGAGCCCCTGGGGACCCTCGATCTCCATCCTTGCCGTTGATTGCCTGGCCAGGCCGGCCAGGGAGTCCTGTGAACAGGAGAAAGTCAAGACATTAGGGGCACCTCTTGTCTCAGGCCCAGAATTTTGAAGGTGGGGAAACTTTTCAGATGGAGAAAATGAGGCCAAAACACCATAGGAGAAAGGACTCTGCCCCAGAGGCAGAGATTCTGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGGGTGCCCCCGTCCCACTTCTCCTGGATCACCCTTCTCTCCACGTTTTCCTGTAGACAAAAAAGGAAATCTTCATTTTTCAGAATTGGAAAATGCTTTTCCTCTATTTTTTGCTATGTTTCACGCAAAGAAATTATTCCTGTTTTGTGCTAGTTTGTAATAGAGGAAAGTTGGAAATGGTCACGCAGGGCTTGTTAAATAAAGGAAGGTGCAGACAAAGGATGGAAGATTATGTAACCAATAAAGTTTATTACAGGAAAGCAAGCATAACAATATCTAGCATTTACTGTGTCTCAGTGAACTAAGACAAACTCTATGTAAACTACTCTAAGGATAGTCCTCACTGCCACATGATGAGGTTGGTACTTTCAGTGTCCCCATTTTACAGATAGTAAACCTAAGGCCCAGGGAAATTAGCAGGTAACTCGTCTGAGAGCCACGATGAGAAAGGGGAGTCTGGATTCACACCCGTGTGTGGCTCCAGCCTGCCTGCTTTACTGCTCTGCTGGTCTGCCGCCCCATCTCTATTGACATGGAAAGATGCTTATGGGGTACCACTAAGCACATTCAAAAACAAACCCCAGAAACCCCGAGTGATAACATAGTACATTCATTGCCATCCGTTTGCTACTAGGAAAGAGCCCAGGAGTGTCTCCTGGACCATGTGGCTGAGGAACCGGGGAAGGGTCTGTATGTCATCCTGAGAAGGGAATGGGGAAAGGGCCGGCCTGGACAAATCCTCACTGCCTGGCCCCCATGCCCACCGCAGAGGAGCACTCACCCTTGGGCCCCGTGTTGCCGATCTGACCCACGGCTCCCACGATGCCAGGAACGCCCCGAGGGCCAGGGTGCCCATGGGGGCCCTGCTTGCCTGGGTACCCAGGGGGCCCAGGAGGTCCTGGAGGACCCATCATGCCCACCGCACCCAGGGCTTCCCGCTTGGCACTCACGGCGACCTCTGCCAGTTGCTCTGGAGGGAGGGAGGGAGGGAGGGAGAGGGAAGTCTATGAGATGGGTGTCAGCAGTAACACTAGGGGAGGCAGAGCATTCCGATGGGCCCTGGCCCCTAGGTTTGCAGACAGAAAAGCACCACCTTCCGTGGGCTCTGTTTTGCGGAAGTCAAAGGCCCAGAGTGACTTATTCAAGGTCCCAAAACCCTTCAGAGACTGGACTGGAAGGAGCCCCCAGGACTCCAGATTTTCAGACAAGTGAACACGTGGAGGCTCCGGGAGGGGGTGAGGGGGCGGCGATGCCCTCGAACTGACTGTGAGGAGGGGTTGCTGCCCCTCACCTTGCAGCATCTTCAGCGCCACATCCACGATGTGCTGGTCAGTGGCATCCCGGCCCTGAAAGCAGAGGCCTTTCAGGAAGAAGCCCCTGGCTACAAGGGCCCACCGCTCCTATCCCACCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACTCTGGTGTTGAGTCATTAATTCCCAAGCTGAGGAACAGATTGTACCTGGGCAGGGCCAAGGGCTTACTTGGGAAGGTCGCGGGGTAATCCCTCAGGCTGCACTCACAGCCTTCCTGTCTGCTCTGGGGCTTGGAACCAGTCTCGGGGAAGTCGGTGAGTCTCTGGGAATCCCTAGCCTTTGGCGGGTAAGCCGCACCCCAGAACAGATCTACCTAGAAGAAGCACCTCCTACCCCGGGGCCCGACTCACCTCCACGCCCTGTCTCCCGGGCTGTCCTGGCACGCCTCGGTTCCCGGCCAGTCCTCGAGGGCCGGGGGGACCAGGGTAGCCCTGAACCCCTGGGGCGCCCGCATCCCCGCTGGGGCCAGGGTAGCCGGGTTCTCCACGTACTCCTTGCTGCGGGGGGATGGGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCCGGGTGGGCGAGAGTGGGGGGTGGGGGTCGAGGAAGGGAGTGGCCGCCCAGGAAAGTCGGAGAACGCCGGGAGGGGAGGACTCACCTGTCCCTTGGGCCCCGGCTCGCCGGACTCGCCCTGCAGGCACAAGGAGCAGCGGTCACGAAGCCGCGGGGACCCCGGGGCCAGCCGCCGCTCCCCGCCCTTCCCTAGGCCGCGCGCTCACCTTCTCGCCTTTCTCTCCGGGGAGGCCGGCCACCCCTGGGTCACCCTGCAGAGAGAACCACGGGTCAGACGCGCGGTGGCGGCGGGGACGCAGAGCAGGGTTGGGGGTCGCTGGGAACAGGGGTGCTGGAACTCACCACTTTGCCGCGGGGCCCGGTCTTCCCTGGGGAGCCCTGGAGAAAGCGGGCAGTGAGGGGTTTGGCGAGCTCCCCCCTCCACGGGGTCCCCCACCTAACTTTCGGCCACACCCCTCTTTCCAACTCCGCCTCGCCGACCAGACCAGAACCCTGAGATCCGCAGGTTTGGAGGCTCCGGAAGGATCTGAGTCCTGCCGACCCCACTCCCCCTGTTATAGGGCCCCTTTCCCAGGTGTTTCCCAGCCCCATCTGGCACCTTGTCTCCTTTGACGCCTGGCAAGCCTTGGGGCCCTGGAATTCCGGGGGGGCCCTGCTCCCCCTTAGGGCCCTGAGGAGAAAAGAAACCAAAGGAATAAATGGAATGAGGGGCCTGGATATGACGCCCTGCCCACCTTAGCTGGCCTGCACTCACCTGCCTTCCCTGAGGGCCTGGTTGCCCCACTGGACCCCTCTCGCCTTGGTCACCCTGAAATGGAAAGAGAAGGTCACAACCTCAGCAGCTCTCAGCAGGGGTAGCCTCCCGCACCGAGGCCTGGCACCGCATGGTCAGGGTGCCCTCCATTCCTGCTGTCACTGGCAGGGGGTCCTTTCTCCACTTGGCAGACCAGCAAAGCAAACCTAGGCCCTGCCTGGGGAGGCATCTCACGGGCTGCACGGAGCAGATGCTGTATCCAGCAGTGCCAGCTGCCGCAGAGGCCCCCGGGGAGGGGCCATTGTGCCAGGCACTTACCTTCTGTCCCATGATGCCCTGGGGACCAATTTCTCCTCGAGGCCCTGGCTCTCCCTGGAGGAAGG
|
CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGGGGAGATGGTTTCCTGGACTGGGGATGGGTGCATGTCCACCCAGAGGGGACCTGGTCCTTCCCGCCAGGATGCCTGCCAGGCTCTGTCTGGGCCTGATGCTCAAGGCCCCTTGATGGATCCAGGCTCTGTAAGGCGGGCAGAGGCATAGGCCGAAGCTCCAAGGCAGGCGGCAGGTTCACAGAAGCCCGGCAGCCCCACGGGGCCTGGCAGGCCAGGTCGACCTGCCTCTCCTGGAGCCCCTGGGGACCCTCGATCTCCATCCTTGCCGTTGATTGCCTGGCCAGGCCGGCCAGGGAGTCCTGTGAACAGGAGAAAGTCAAGACATTAGGGGCACCTCTTGTCTCAGGCCCAGAATTTTGAAGGTGGGGAAACTTTTCAGATGGAGAAAATGAGGCCAAAACACCATAGGAGAAAGGACTCTGCCCCAGAGGCAGAGATTCTGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGGGTGCCCCCGTCCCACTTCTCCTGGATCACCCTTCTCTCCACGTTTTCCTGTAGACAAAAAAGGAAATCTTCATTTTTCAGAATTGGAAAATGCTTTTCCTCTATTTTTTGCTATGTTTCACGCAAAGAAATTATTCCTGTTTTGTGCTAGTTTGTAATAGAGGAAAGTTGGAAATGGTCACGCAGGGCTTGTTAAATAAAGGAAGGTGCAGACAAAGGATGGAAGATTATGTAACCAATAAAGTTTATTACAGGAAAGCAAGCATAACAATATCTAGCATTTACTGTGTCTCAGTGAACTAAGACAAACTCTATGTAAACTACTCTAAGGATAGTCCTCACTGCCACATGATGAGGTTGGTACTTTCAGTGTCCCCATTTTACAGATAGTAAACCTAAGGCCCAGGGAAATTAGCAGGTAACTCGTCTGAGAGCCACGATGAGAAAGGGGAGTCTGGATTCACACCCGTGTGTGGCTCCAGCCTGCCTGCTTTACTGCTCTGCTGGTCTGCCGCCCCATCTCTATTGACATGGAAAGATGCTTATGGGGTACCACTAAGCACATTCAAAAACAAACCCCAGAAACCCCGAGTGATAACATAGTACATTCATTGCCATCCGTTTGCTACTAGGAAAGAGCCCAGGAGTGTCTCCTGGACCATGTGGCTGAGGAACCGGGGAAGGGTCTGTATGTCATCCTGAGAAGGGAATGGGGAAAGGGCCGGCCTGGACAAATCCTCACTGCCTGGCCCCCATGCCCACCGCAGAGGAGCACTCACCCTTGGGCCCCGTGTTGCCGATCTGACCCACGGCTCCCACGATGCCAGGAACGCCCCGAGGGCCAGGGTGCCCATGGGGGCCCTGCTTGCCTGGGTACCCAGGGGGCCCAGGAGGTCCTGGAGGACCCATCATGCCCACCGCACCCAGGGCTTCCCGCTTGGCACTCACGGCGACCTCTGCCAGTTGCTCTGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAAGTCTATGAGATGGGTGTCAGCAGTAACACTAGGGGAGGCAGAGCATTCCGATGGGCCCTGGCCCCTAGGTTTGCAGACAGAAAAGCACCACCTTCCGTGGGCTCTGTTTTGCGGAAGTCAAAGGCCCAGAGTGACTTATTCAAGGTCCCAAAACCCTTCAGAGACTGGACTGGAAGGAGCCCCCAGGACTCCAGATTTTCAGACAAGTGAACACGTGGAGGCTCCGGGAGGGGGTGAGGGGGCGGCGATGCCCTCGAACTGACTGTGAGGAGGGGTTGCTGCCCCTCACCTTGCAGCATCTTCAGCGCCACATCCACGATGTGCTGGTCAGTGGCATCCCGGCCCTGAAAGCAGAGGCCTTTCAGGAAGAAGCCCCTGGCTACAAGGGCCCACCGCTCCTATCCCACCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACTCTGGTGTTGAGTCATTAATTCCCAAGCTGAGGAACAGATTGTACCTGGGCAGGGCCAAGGGCTTACTTGGGAAGGTCGCGGGGTAATCCCTCAGGCTGCACTCACAGCCTTCCTGTCTGCTCTGGGGCTTGGAACCAGTCTCGGGGAAGTCGGTGAGTCTCTGGGAATCCCTAGCCTTTGGCGGGTAAGCCGCACCCCAGAACAGATCTACCTAGAAGAAGCACCTCCTACCCCGGGGCCCGACTCACCTCCACGCCCTGTCTCCCGGGCTGTCCTGGCACGCCTCGGTTCCCGGCCAGTCCTCGAGGGCCGGGGGGACCAGGGTAGCCCTGAACCCCTGGGGCGCCCGCATCCCCGCTGGGGCCAGGGTAGCCGGGTTCTCCACGTACTCCTTGCTGCGGGGGGATGGGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCCGGGTGGGCGAGAGTGGGGGGTGGGGGTCGAGGAAGGGAGTGGCCGCCCAGGAAAGTCGGAGAACGCCGGGAGGGGAGGACTCACCTGTCCCTTGGGCCCCGGCTCGCCGGACTCGCCCTGCAGGCACAAGGAGCAGCGGTCACGAAGCCGCGGGGACCCCGGGGCCAGCCGCCGCTCCCCGCCCTTCCCTAGGCCGCGCGCTCACCTTCTCGCCTTTCTCTCCGGGGAGGCCGGCCACCCCTGGGTCACCCTGCAGAGAGAACCACGGGTCAGACGCGCGGTGGCGGCGGGGACGCAGAGCAGGGTTGGGGGTCGCTGGGAACAGGGGTGCTGGAACTCACCACTTTGCCGCGGGGCCCGGTCTTCCCTGGGGAGCCCTGGAGAAAGCGGGCAGTGAGGGGTTTGGCGAGCTCCCCCCTCCACGGGGTCCCCCACCTAACTTTCGGCCACACCCCTCTTTCCAACTCCGCCTCGCCGACCAGACCAGAACCCTGAGATCCGCAGGTTTGGAGGCTCCGGAAGGATCTGAGTCCTGCCGACCCCACTCCCCCTGTTATAGGGCCCCTTTCCCAGGTGTTTCCCAGCCCCATCTGGCACCTTGTCTCCTTTGACGCCTGGCAAGCCTTGGGGCCCTGGAATTCCGGGGGGGCCCTGCTCCCCCTTAGGGCCCTGAGGAGAAAAGAAACCAAAGGAATAAATGGAATGAGGGGCCTGGATATGACGCCCTGCCCACCTTAGCTGGCCTGCACTCACCTGCCTTCCCTGAGGGCCTGGTTGCCCCACTGGACCCCTCTCGCCTTGGTCACCCTGAAATGGAAAGAGAAGGTCACAACCTCAGCAGCTCTCAGCAGGGGTAGCCTCCCGCACCGAGGCCTGGCACCGCATGGTCAGGGTGCCCTCCATTCCTGCTGTCACTGGCAGGGGGTCCTTTCTCCACTTGGCAGACCAGCAAAGCAAACCTAGGCCCTGCCTGGGGAGGCATCTCACGGGCTGCACGGAGCAGATGCTGTATCCAGCAGTGCCAGCTGCCGCAGAGGCCCCCGGGGAGGGGCCATTGTGCCAGGCACTTACCTTCTGTCCCATGATGCCCTGGGGACCAATTTCTCCTCGAGGCCCTGGCTCTCCCTGGAGG
|
benign
| 7,117 |
A genetic alteration at chromosome 1, position 40302811, in gene COL9A2 (collagen type IX alpha 2 chain)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGGGGAGATGGTTTCCTGGACTGGGGATGGGTGCATGTCCACCCAGAGGGGACCTGGTCCTTCCCGCCAGGATGCCTGCCAGGCTCTGTCTGGGCCTGATGCTCAAGGCCCCTTGATGGATCCAGGCTCTGTAAGGCGGGCAGAGGCATAGGCCGAAGCTCCAAGGCAGGCGGCAGGTTCACAGAAGCCCGGCAGCCCCACGGGGCCTGGCAGGCCAGGTCGACCTGCCTCTCCTGGAGCCCCTGGGGACCCTCGATCTCCATCCTTGCCGTTGATTGCCTGGCCAGGCCGGCCAGGGAGTCCTGTGAACAGGAGAAAGTCAAGACATTAGGGGCACCTCTTGTCTCAGGCCCAGAATTTTGAAGGTGGGGAAACTTTTCAGATGGAGAAAATGAGGCCAAAACACCATAGGAGAAAGGACTCTGCCCCAGAGGCAGAGATTCTGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGGGTGCCCCCGTCCCACTTCTCCTGGATCACCCTTCTCTCCACGTTTTCCTGTAGACAAAAAAGGAAATCTTCATTTTTCAGAATTGGAAAATGCTTTTCCTCTATTTTTTGCTATGTTTCACGCAAAGAAATTATTCCTGTTTTGTGCTAGTTTGTAATAGAGGAAAGTTGGAAATGGTCACGCAGGGCTTGTTAAATAAAGGAAGGTGCAGACAAAGGATGGAAGATTATGTAACCAATAAAGTTTATTACAGGAAAGCAAGCATAACAATATCTAGCATTTACTGTGTCTCAGTGAACTAAGACAAACTCTATGTAAACTACTCTAAGGATAGTCCTCACTGCCACATGATGAGGTTGGTACTTTCAGTGTCCCCATTTTACAGATAGTAAACCTAAGGCCCAGGGAAATTAGCAGGTAACTCGTCTGAGAGCCACGATGAGAAAGGGGAGTCTGGATTCACACCCGTGTGTGGCTCCAGCCTGCCTGCTTTACTGCTCTGCTGGTCTGCCGCCCCATCTCTATTGACATGGAAAGATGCTTATGGGGTACCACTAAGCACATTCAAAAACAAACCCCAGAAACCCCGAGTGATAACATAGTACATTCATTGCCATCCGTTTGCTACTAGGAAAGAGCCCAGGAGTGTCTCCTGGACCATGTGGCTGAGGAACCGGGGAAGGGTCTGTATGTCATCCTGAGAAGGGAATGGGGAAAGGGCCGGCCTGGACAAATCCTCACTGCCTGGCCCCCATGCCCACCGCAGAGGAGCACTCACCCTTGGGCCCCGTGTTGCCGATCTGACCCACGGCTCCCACGATGCCAGGAACGCCCCGAGGGCCAGGGTGCCCATGGGGGCCCTGCTTGCCTGGGTACCCAGGGGGCCCAGGAGGTCCTGGAGGACCCATCATGCCCACCGCACCCAGGGCTTCCCGCTTGGCACTCACGGCGACCTCTGCCAGTTGCTCTGGAGGGAGGGAGGGAGGGAGGGAGAGGGAAGTCTATGAGATGGGTGTCAGCAGTAACACTAGGGGAGGCAGAGCATTCCGATGGGCCCTGGCCCCTAGGTTTGCAGACAGAAAAGCACCACCTTCCGTGGGCTCTGTTTTGCGGAAGTCAAAGGCCCAGAGTGACTTATTCAAGGTCCCAAAACCCTTCAGAGACTGGACTGGAAGGAGCCCCCAGGACTCCAGATTTTCAGACAAGTGAACACGTGGAGGCTCCGGGAGGGGGTGAGGGGGCGGCGATGCCCTCGAACTGACTGTGAGGAGGGGTTGCTGCCCCTCACCTTGCAGCATCTTCAGCGCCACATCCACGATGTGCTGGTCAGTGGCATCCCGGCCCTGAAAGCAGAGGCCTTTCAGGAAGAAGCCCCTGGCTACAAGGGCCCACCGCTCCTATCCCACCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACTCTGGTGTTGAGTCATTAATTCCCAAGCTGAGGAACAGATTGTACCTGGGCAGGGCCAAGGGCTTACTTGGGAAGGTCGCGGGGTAATCCCTCAGGCTGCACTCACAGCCTTCCTGTCTGCTCTGGGGCTTGGAACCAGTCTCGGGGAAGTCGGTGAGTCTCTGGGAATCCCTAGCCTTTGGCGGGTAAGCCGCACCCCAGAACAGATCTACCTAGAAGAAGCACCTCCTACCCCGGGGCCCGACTCACCTCCACGCCCTGTCTCCCGGGCTGTCCTGGCACGCCTCGGTTCCCGGCCAGTCCTCGAGGGCCGGGGGGACCAGGGTAGCCCTGAACCCCTGGGGCGCCCGCATCCCCGCTGGGGCCAGGGTAGCCGGGTTCTCCACGTACTCCTTGCTGCGGGGGGATGGGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCCGGGTGGGCGAGAGTGGGGGGTGGGGGTCGAGGAAGGGAGTGGCCGCCCAGGAAAGTCGGAGAACGCCGGGAGGGGAGGACTCACCTGTCCCTTGGGCCCCGGCTCGCCGGACTCGCCCTGCAGGCACAAGGAGCAGCGGTCACGAAGCCGCGGGGACCCCGGGGCCAGCCGCCGCTCCCCGCCCTTCCCTAGGCCGCGCGCTCACCTTCTCGCCTTTCTCTCCGGGGAGGCCGGCCACCCCTGGGTCACCCTGCAGAGAGAACCACGGGTCAGACGCGCGGTGGCGGCGGGGACGCAGAGCAGGGTTGGGGGTCGCTGGGAACAGGGGTGCTGGAACTCACCACTTTGCCGCGGGGCCCGGTCTTCCCTGGGGAGCCCTGGAGAAAGCGGGCAGTGAGGGGTTTGGCGAGCTCCCCCCTCCACGGGGTCCCCCACCTAACTTTCGGCCACACCCCTCTTTCCAACTCCGCCTCGCCGACCAGACCAGAACCCTGAGATCCGCAGGTTTGGAGGCTCCGGAAGGATCTGAGTCCTGCCGACCCCACTCCCCCTGTTATAGGGCCCCTTTCCCAGGTGTTTCCCAGCCCCATCTGGCACCTTGTCTCCTTTGACGCCTGGCAAGCCTTGGGGCCCTGGAATTCCGGGGGGGCCCTGCTCCCCCTTAGGGCCCTGAGGAGAAAAGAAACCAAAGGAATAAATGGAATGAGGGGCCTGGATATGACGCCCTGCCCACCTTAGCTGGCCTGCACTCACCTGCCTTCCCTGAGGGCCTGGTTGCCCCACTGGACCCCTCTCGCCTTGGTCACCCTGAAATGGAAAGAGAAGGTCACAACCTCAGCAGCTCTCAGCAGGGGTAGCCTCCCGCACCGAGGCCTGGCACCGCATGGTCAGGGTGCCCTCCATTCCTGCTGTCACTGGCAGGGGGTCCTTTCTCCACTTGGCAGACCAGCAAAGCAAACCTAGGCCCTGCCTGGGGAGGCATCTCACGGGCTGCACGGAGCAGATGCTGTATCCAGCAGTGCCAGCTGCCGCAGAGGCCCCCGGGGAGGGGCCATTGTGCCAGGCACTTACCTTCTGTCCCATGATGCCCTGGGGACCAATTTCTCCTCGAGGCCCTGGCTCTCCCTGGAGGAAGG
|
CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGGGGAGATGGTTTCCTGGACTGGGGATGGGTGCATGTCCACCCAGAGGGGACCTGGTCCTTCCCGCCAGGATGCCTGCCAGGCTCTGTCTGGGCCTGATGCTCAAGGCCCCTTGATGGATCCAGGCTCTGTAAGGCGGGCAGAGGCATAGGCCGAAGCTCCAAGGCAGGCGGCAGGTTCACAGAAGCCCGGCAGCCCCACGGGGCCTGGCAGGCCAGGTCGACCTGCCTCTCCTGGAGCCCCTGGGGACCCTCGATCTCCATCCTTGCCGTTGATTGCCTGGCCAGGCCGGCCAGGGAGTCCTGTGAACAGGAGAAAGTCAAGACATTAGGGGCACCTCTTGTCTCAGGCCCAGAATTTTGAAGGTGGGGAAACTTTTCAGATGGAGAAAATGAGGCCAAAACACCATAGGAGAAAGGACTCTGCCCCAGAGGCAGAGATTCTGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGGGTGCCCCCGTCCCACTTCTCCTGGATCACCCTTCTCTCCACGTTTTCCTGTAGACAAAAAAGGAAATCTTCATTTTTCAGAATTGGAAAATGCTTTTCCTCTATTTTTTGCTATGTTTCACGCAAAGAAATTATTCCTGTTTTGTGCTAGTTTGTAATAGAGGAAAGTTGGAAATGGTCACGCAGGGCTTGTTAAATAAAGGAAGGTGCAGACAAAGGATGGAAGATTATGTAACCAATAAAGTTTATTACAGGAAAGCAAGCATAACAATATCTAGCATTTACTGTGTCTCAGTGAACTAAGACAAACTCTATGTAAACTACTCTAAGGATAGTCCTCACTGCCACATGATGAGGTTGGTACTTTCAGTGTCCCCATTTTACAGATAGTAAACCTAAGGCCCAGGGAAATTAGCAGGTAACTCGTCTGAGAGCCACGATGAGAAAGGGGAGTCTGGATTCACACCCGTGTGTGGCTCCAGCCTGCCTGCTTTACTGCTCTGCTGGTCTGCCGCCCCATCTCTATTGACATGGAAAGATGCTTATGGGGTACCACTAAGCACATTCAAAAACAAACCCCAGAAACCCCGAGTGATAACATAGTACATTCATTGCCATCCGTTTGCTACTAGGAAAGAGCCCAGGAGTGTCTCCTGGACCATGTGGCTGAGGAACCGGGGAAGGGTCTGTATGTCATCCTGAGAAGGGAATGGGGAAAGGGCCGGCCTGGACAAATCCTCACTGCCTGGCCCCCATGCCCACCGCAGAGGAGCACTCACCCTTGGGCCCCGTGTTGCCGATCTGACCCACGGCTCCCACGATGCCAGGAACGCCCCGAGGGCCAGGGTGCCCATGGGGGCCCTGCTTGCCTGGGTACCCAGGGGGCCCAGGAGGTCCTGGAGGACCCATCATGCCCACCGCACCCAGGGCTTCCCGCTTGGCACTCACGGCGACCTCTGCCAGTTGCTCTGGAGGGAGGGAGGGAGGGAGAGGGAAGTCTATGAGATGGGTGTCAGCAGTAACACTAGGGGAGGCAGAGCATTCCGATGGGCCCTGGCCCCTAGGTTTGCAGACAGAAAAGCACCACCTTCCGTGGGCTCTGTTTTGCGGAAGTCAAAGGCCCAGAGTGACTTATTCAAGGTCCCAAAACCCTTCAGAGACTGGACTGGAAGGAGCCCCCAGGACTCCAGATTTTCAGACAAGTGAACACGTGGAGGCTCCGGGAGGGGGTGAGGGGGCGGCGATGCCCTCGAACTGACTGTGAGGAGGGGTTGCTGCCCCTCACCTTGCAGCATCTTCAGCGCCACATCCACGATGTGCTGGTCAGTGGCATCCCGGCCCTGAAAGCAGAGGCCTTTCAGGAAGAAGCCCCTGGCTACAAGGGCCCACCGCTCCTATCCCACCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACTCTGGTGTTGAGTCATTAATTCCCAAGCTGAGGAACAGATTGTACCTGGGCAGGGCCAAGGGCTTACTTGGGAAGGTCGCGGGGTAATCCCTCAGGCTGCACTCACAGCCTTCCTGTCTGCTCTGGGGCTTGGAACCAGTCTCGGGGAAGTCGGTGAGTCTCTGGGAATCCCTAGCCTTTGGCGGGTAAGCCGCACCCCAGAACAGATCTACCTAGAAGAAGCACCTCCTACCCCGGGGCCCGACTCACCTCCACGCCCTGTCTCCCGGGCTGTCCTGGCACGCCTCGGTTCCCGGCCAGTCCTCGAGGGCCGGGGGGACCAGGGTAGCCCTGAACCCCTGGGGCGCCCGCATCCCCGCTGGGGCCAGGGTAGCCGGGTTCTCCACGTACTCCTTGCTGCGGGGGGATGGGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCCGGGTGGGCGAGAGTGGGGGGTGGGGGTCGAGGAAGGGAGTGGCCGCCCAGGAAAGTCGGAGAACGCCGGGAGGGGAGGACTCACCTGTCCCTTGGGCCCCGGCTCGCCGGACTCGCCCTGCAGGCACAAGGAGCAGCGGTCACGAAGCCGCGGGGACCCCGGGGCCAGCCGCCGCTCCCCGCCCTTCCCTAGGCCGCGCGCTCACCTTCTCGCCTTTCTCTCCGGGGAGGCCGGCCACCCCTGGGTCACCCTGCAGAGAGAACCACGGGTCAGACGCGCGGTGGCGGCGGGGACGCAGAGCAGGGTTGGGGGTCGCTGGGAACAGGGGTGCTGGAACTCACCACTTTGCCGCGGGGCCCGGTCTTCCCTGGGGAGCCCTGGAGAAAGCGGGCAGTGAGGGGTTTGGCGAGCTCCCCCCTCCACGGGGTCCCCCACCTAACTTTCGGCCACACCCCTCTTTCCAACTCCGCCTCGCCGACCAGACCAGAACCCTGAGATCCGCAGGTTTGGAGGCTCCGGAAGGATCTGAGTCCTGCCGACCCCACTCCCCCTGTTATAGGGCCCCTTTCCCAGGTGTTTCCCAGCCCCATCTGGCACCTTGTCTCCTTTGACGCCTGGCAAGCCTTGGGGCCCTGGAATTCCGGGGGGGCCCTGCTCCCCCTTAGGGCCCTGAGGAGAAAAGAAACCAAAGGAATAAATGGAATGAGGGGCCTGGATATGACGCCCTGCCCACCTTAGCTGGCCTGCACTCACCTGCCTTCCCTGAGGGCCTGGTTGCCCCACTGGACCCCTCTCGCCTTGGTCACCCTGAAATGGAAAGAGAAGGTCACAACCTCAGCAGCTCTCAGCAGGGGTAGCCTCCCGCACCGAGGCCTGGCACCGCATGGTCAGGGTGCCCTCCATTCCTGCTGTCACTGGCAGGGGGTCCTTTCTCCACTTGGCAGACCAGCAAAGCAAACCTAGGCCCTGCCTGGGGAGGCATCTCACGGGCTGCACGGAGCAGATGCTGTATCCAGCAGTGCCAGCTGCCGCAGAGGCCCCCGGGGAGGGGCCATTGTGCCAGGCACTTACCTTCTGTCCCATGATGCCCTGGGGACCAATTTCTCCTCGAGGCCCTGGCTCTCCCTGGAGGAAGGNNNN
|
benign
| 7,118 |
Gene COL9A2 (collagen type IX alpha 2 chain) variant at chromosome 1, position 40302811—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGGGGAGATGGTTTCCTGGACTGGGGATGGGTGCATGTCCACCCAGAGGGGACCTGGTCCTTCCCGCCAGGATGCCTGCCAGGCTCTGTCTGGGCCTGATGCTCAAGGCCCCTTGATGGATCCAGGCTCTGTAAGGCGGGCAGAGGCATAGGCCGAAGCTCCAAGGCAGGCGGCAGGTTCACAGAAGCCCGGCAGCCCCACGGGGCCTGGCAGGCCAGGTCGACCTGCCTCTCCTGGAGCCCCTGGGGACCCTCGATCTCCATCCTTGCCGTTGATTGCCTGGCCAGGCCGGCCAGGGAGTCCTGTGAACAGGAGAAAGTCAAGACATTAGGGGCACCTCTTGTCTCAGGCCCAGAATTTTGAAGGTGGGGAAACTTTTCAGATGGAGAAAATGAGGCCAAAACACCATAGGAGAAAGGACTCTGCCCCAGAGGCAGAGATTCTGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGGGTGCCCCCGTCCCACTTCTCCTGGATCACCCTTCTCTCCACGTTTTCCTGTAGACAAAAAAGGAAATCTTCATTTTTCAGAATTGGAAAATGCTTTTCCTCTATTTTTTGCTATGTTTCACGCAAAGAAATTATTCCTGTTTTGTGCTAGTTTGTAATAGAGGAAAGTTGGAAATGGTCACGCAGGGCTTGTTAAATAAAGGAAGGTGCAGACAAAGGATGGAAGATTATGTAACCAATAAAGTTTATTACAGGAAAGCAAGCATAACAATATCTAGCATTTACTGTGTCTCAGTGAACTAAGACAAACTCTATGTAAACTACTCTAAGGATAGTCCTCACTGCCACATGATGAGGTTGGTACTTTCAGTGTCCCCATTTTACAGATAGTAAACCTAAGGCCCAGGGAAATTAGCAGGTAACTCGTCTGAGAGCCACGATGAGAAAGGGGAGTCTGGATTCACACCCGTGTGTGGCTCCAGCCTGCCTGCTTTACTGCTCTGCTGGTCTGCCGCCCCATCTCTATTGACATGGAAAGATGCTTATGGGGTACCACTAAGCACATTCAAAAACAAACCCCAGAAACCCCGAGTGATAACATAGTACATTCATTGCCATCCGTTTGCTACTAGGAAAGAGCCCAGGAGTGTCTCCTGGACCATGTGGCTGAGGAACCGGGGAAGGGTCTGTATGTCATCCTGAGAAGGGAATGGGGAAAGGGCCGGCCTGGACAAATCCTCACTGCCTGGCCCCCATGCCCACCGCAGAGGAGCACTCACCCTTGGGCCCCGTGTTGCCGATCTGACCCACGGCTCCCACGATGCCAGGAACGCCCCGAGGGCCAGGGTGCCCATGGGGGCCCTGCTTGCCTGGGTACCCAGGGGGCCCAGGAGGTCCTGGAGGACCCATCATGCCCACCGCACCCAGGGCTTCCCGCTTGGCACTCACGGCGACCTCTGCCAGTTGCTCTGGAGGGAGGGAGGGAGGGAGGGAGAGGGAAGTCTATGAGATGGGTGTCAGCAGTAACACTAGGGGAGGCAGAGCATTCCGATGGGCCCTGGCCCCTAGGTTTGCAGACAGAAAAGCACCACCTTCCGTGGGCTCTGTTTTGCGGAAGTCAAAGGCCCAGAGTGACTTATTCAAGGTCCCAAAACCCTTCAGAGACTGGACTGGAAGGAGCCCCCAGGACTCCAGATTTTCAGACAAGTGAACACGTGGAGGCTCCGGGAGGGGGTGAGGGGGCGGCGATGCCCTCGAACTGACTGTGAGGAGGGGTTGCTGCCCCTCACCTTGCAGCATCTTCAGCGCCACATCCACGATGTGCTGGTCAGTGGCATCCCGGCCCTGAAAGCAGAGGCCTTTCAGGAAGAAGCCCCTGGCTACAAGGGCCCACCGCTCCTATCCCACCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACTCTGGTGTTGAGTCATTAATTCCCAAGCTGAGGAACAGATTGTACCTGGGCAGGGCCAAGGGCTTACTTGGGAAGGTCGCGGGGTAATCCCTCAGGCTGCACTCACAGCCTTCCTGTCTGCTCTGGGGCTTGGAACCAGTCTCGGGGAAGTCGGTGAGTCTCTGGGAATCCCTAGCCTTTGGCGGGTAAGCCGCACCCCAGAACAGATCTACCTAGAAGAAGCACCTCCTACCCCGGGGCCCGACTCACCTCCACGCCCTGTCTCCCGGGCTGTCCTGGCACGCCTCGGTTCCCGGCCAGTCCTCGAGGGCCGGGGGGACCAGGGTAGCCCTGAACCCCTGGGGCGCCCGCATCCCCGCTGGGGCCAGGGTAGCCGGGTTCTCCACGTACTCCTTGCTGCGGGGGGATGGGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCCGGGTGGGCGAGAGTGGGGGGTGGGGGTCGAGGAAGGGAGTGGCCGCCCAGGAAAGTCGGAGAACGCCGGGAGGGGAGGACTCACCTGTCCCTTGGGCCCCGGCTCGCCGGACTCGCCCTGCAGGCACAAGGAGCAGCGGTCACGAAGCCGCGGGGACCCCGGGGCCAGCCGCCGCTCCCCGCCCTTCCCTAGGCCGCGCGCTCACCTTCTCGCCTTTCTCTCCGGGGAGGCCGGCCACCCCTGGGTCACCCTGCAGAGAGAACCACGGGTCAGACGCGCGGTGGCGGCGGGGACGCAGAGCAGGGTTGGGGGTCGCTGGGAACAGGGGTGCTGGAACTCACCACTTTGCCGCGGGGCCCGGTCTTCCCTGGGGAGCCCTGGAGAAAGCGGGCAGTGAGGGGTTTGGCGAGCTCCCCCCTCCACGGGGTCCCCCACCTAACTTTCGGCCACACCCCTCTTTCCAACTCCGCCTCGCCGACCAGACCAGAACCCTGAGATCCGCAGGTTTGGAGGCTCCGGAAGGATCTGAGTCCTGCCGACCCCACTCCCCCTGTTATAGGGCCCCTTTCCCAGGTGTTTCCCAGCCCCATCTGGCACCTTGTCTCCTTTGACGCCTGGCAAGCCTTGGGGCCCTGGAATTCCGGGGGGGCCCTGCTCCCCCTTAGGGCCCTGAGGAGAAAAGAAACCAAAGGAATAAATGGAATGAGGGGCCTGGATATGACGCCCTGCCCACCTTAGCTGGCCTGCACTCACCTGCCTTCCCTGAGGGCCTGGTTGCCCCACTGGACCCCTCTCGCCTTGGTCACCCTGAAATGGAAAGAGAAGGTCACAACCTCAGCAGCTCTCAGCAGGGGTAGCCTCCCGCACCGAGGCCTGGCACCGCATGGTCAGGGTGCCCTCCATTCCTGCTGTCACTGGCAGGGGGTCCTTTCTCCACTTGGCAGACCAGCAAAGCAAACCTAGGCCCTGCCTGGGGAGGCATCTCACGGGCTGCACGGAGCAGATGCTGTATCCAGCAGTGCCAGCTGCCGCAGAGGCCCCCGGGGAGGGGCCATTGTGCCAGGCACTTACCTTCTGTCCCATGATGCCCTGGGGACCAATTTCTCCTCGAGGCCCTGGCTCTCCCTGGAGGAAGG
|
CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGGGGAGATGGTTTCCTGGACTGGGGATGGGTGCATGTCCACCCAGAGGGGACCTGGTCCTTCCCGCCAGGATGCCTGCCAGGCTCTGTCTGGGCCTGATGCTCAAGGCCCCTTGATGGATCCAGGCTCTGTAAGGCGGGCAGAGGCATAGGCCGAAGCTCCAAGGCAGGCGGCAGGTTCACAGAAGCCCGGCAGCCCCACGGGGCCTGGCAGGCCAGGTCGACCTGCCTCTCCTGGAGCCCCTGGGGACCCTCGATCTCCATCCTTGCCGTTGATTGCCTGGCCAGGCCGGCCAGGGAGTCCTGTGAACAGGAGAAAGTCAAGACATTAGGGGCACCTCTTGTCTCAGGCCCAGAATTTTGAAGGTGGGGAAACTTTTCAGATGGAGAAAATGAGGCCAAAACACCATAGGAGAAAGGACTCTGCCCCAGAGGCAGAGATTCTGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGGGTGCCCCCGTCCCACTTCTCCTGGATCACCCTTCTCTCCACGTTTTCCTGTAGACAAAAAAGGAAATCTTCATTTTTCAGAATTGGAAAATGCTTTTCCTCTATTTTTTGCTATGTTTCACGCAAAGAAATTATTCCTGTTTTGTGCTAGTTTGTAATAGAGGAAAGTTGGAAATGGTCACGCAGGGCTTGTTAAATAAAGGAAGGTGCAGACAAAGGATGGAAGATTATGTAACCAATAAAGTTTATTACAGGAAAGCAAGCATAACAATATCTAGCATTTACTGTGTCTCAGTGAACTAAGACAAACTCTATGTAAACTACTCTAAGGATAGTCCTCACTGCCACATGATGAGGTTGGTACTTTCAGTGTCCCCATTTTACAGATAGTAAACCTAAGGCCCAGGGAAATTAGCAGGTAACTCGTCTGAGAGCCACGATGAGAAAGGGGAGTCTGGATTCACACCCGTGTGTGGCTCCAGCCTGCCTGCTTTACTGCTCTGCTGGTCTGCCGCCCCATCTCTATTGACATGGAAAGATGCTTATGGGGTACCACTAAGCACATTCAAAAACAAACCCCAGAAACCCCGAGTGATAACATAGTACATTCATTGCCATCCGTTTGCTACTAGGAAAGAGCCCAGGAGTGTCTCCTGGACCATGTGGCTGAGGAACCGGGGAAGGGTCTGTATGTCATCCTGAGAAGGGAATGGGGAAAGGGCCGGCCTGGACAAATCCTCACTGCCTGGCCCCCATGCCCACCGCAGAGGAGCACTCACCCTTGGGCCCCGTGTTGCCGATCTGACCCACGGCTCCCACGATGCCAGGAACGCCCCGAGGGCCAGGGTGCCCATGGGGGCCCTGCTTGCCTGGGTACCCAGGGGGCCCAGGAGGTCCTGGAGGACCCATCATGCCCACCGCACCCAGGGCTTCCCGCTTGGCACTCACGGCGACCTCTGCCAGTTGCTCTGGAGGGAGGGAGGGAGAGGGAAGTCTATGAGATGGGTGTCAGCAGTAACACTAGGGGAGGCAGAGCATTCCGATGGGCCCTGGCCCCTAGGTTTGCAGACAGAAAAGCACCACCTTCCGTGGGCTCTGTTTTGCGGAAGTCAAAGGCCCAGAGTGACTTATTCAAGGTCCCAAAACCCTTCAGAGACTGGACTGGAAGGAGCCCCCAGGACTCCAGATTTTCAGACAAGTGAACACGTGGAGGCTCCGGGAGGGGGTGAGGGGGCGGCGATGCCCTCGAACTGACTGTGAGGAGGGGTTGCTGCCCCTCACCTTGCAGCATCTTCAGCGCCACATCCACGATGTGCTGGTCAGTGGCATCCCGGCCCTGAAAGCAGAGGCCTTTCAGGAAGAAGCCCCTGGCTACAAGGGCCCACCGCTCCTATCCCACCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACTCTGGTGTTGAGTCATTAATTCCCAAGCTGAGGAACAGATTGTACCTGGGCAGGGCCAAGGGCTTACTTGGGAAGGTCGCGGGGTAATCCCTCAGGCTGCACTCACAGCCTTCCTGTCTGCTCTGGGGCTTGGAACCAGTCTCGGGGAAGTCGGTGAGTCTCTGGGAATCCCTAGCCTTTGGCGGGTAAGCCGCACCCCAGAACAGATCTACCTAGAAGAAGCACCTCCTACCCCGGGGCCCGACTCACCTCCACGCCCTGTCTCCCGGGCTGTCCTGGCACGCCTCGGTTCCCGGCCAGTCCTCGAGGGCCGGGGGGACCAGGGTAGCCCTGAACCCCTGGGGCGCCCGCATCCCCGCTGGGGCCAGGGTAGCCGGGTTCTCCACGTACTCCTTGCTGCGGGGGGATGGGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCCGGGTGGGCGAGAGTGGGGGGTGGGGGTCGAGGAAGGGAGTGGCCGCCCAGGAAAGTCGGAGAACGCCGGGAGGGGAGGACTCACCTGTCCCTTGGGCCCCGGCTCGCCGGACTCGCCCTGCAGGCACAAGGAGCAGCGGTCACGAAGCCGCGGGGACCCCGGGGCCAGCCGCCGCTCCCCGCCCTTCCCTAGGCCGCGCGCTCACCTTCTCGCCTTTCTCTCCGGGGAGGCCGGCCACCCCTGGGTCACCCTGCAGAGAGAACCACGGGTCAGACGCGCGGTGGCGGCGGGGACGCAGAGCAGGGTTGGGGGTCGCTGGGAACAGGGGTGCTGGAACTCACCACTTTGCCGCGGGGCCCGGTCTTCCCTGGGGAGCCCTGGAGAAAGCGGGCAGTGAGGGGTTTGGCGAGCTCCCCCCTCCACGGGGTCCCCCACCTAACTTTCGGCCACACCCCTCTTTCCAACTCCGCCTCGCCGACCAGACCAGAACCCTGAGATCCGCAGGTTTGGAGGCTCCGGAAGGATCTGAGTCCTGCCGACCCCACTCCCCCTGTTATAGGGCCCCTTTCCCAGGTGTTTCCCAGCCCCATCTGGCACCTTGTCTCCTTTGACGCCTGGCAAGCCTTGGGGCCCTGGAATTCCGGGGGGGCCCTGCTCCCCCTTAGGGCCCTGAGGAGAAAAGAAACCAAAGGAATAAATGGAATGAGGGGCCTGGATATGACGCCCTGCCCACCTTAGCTGGCCTGCACTCACCTGCCTTCCCTGAGGGCCTGGTTGCCCCACTGGACCCCTCTCGCCTTGGTCACCCTGAAATGGAAAGAGAAGGTCACAACCTCAGCAGCTCTCAGCAGGGGTAGCCTCCCGCACCGAGGCCTGGCACCGCATGGTCAGGGTGCCCTCCATTCCTGCTGTCACTGGCAGGGGGTCCTTTCTCCACTTGGCAGACCAGCAAAGCAAACCTAGGCCCTGCCTGGGGAGGCATCTCACGGGCTGCACGGAGCAGATGCTGTATCCAGCAGTGCCAGCTGCCGCAGAGGCCCCCGGGGAGGGGCCATTGTGCCAGGCACTTACCTTCTGTCCCATGATGCCCTGGGGACCAATTTCTCCTCGAGGCCCTGGCTCTCCCTGGAGGAAGGNNNNNNNN
|
benign
| 7,119 |
Considering the genetic mutation at chromosome 1, position 40302816, impacting COL9A2 (collagen type IX alpha 2 chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
ATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGGGGAGATGGTTTCCTGGACTGGGGATGGGTGCATGTCCACCCAGAGGGGACCTGGTCCTTCCCGCCAGGATGCCTGCCAGGCTCTGTCTGGGCCTGATGCTCAAGGCCCCTTGATGGATCCAGGCTCTGTAAGGCGGGCAGAGGCATAGGCCGAAGCTCCAAGGCAGGCGGCAGGTTCACAGAAGCCCGGCAGCCCCACGGGGCCTGGCAGGCCAGGTCGACCTGCCTCTCCTGGAGCCCCTGGGGACCCTCGATCTCCATCCTTGCCGTTGATTGCCTGGCCAGGCCGGCCAGGGAGTCCTGTGAACAGGAGAAAGTCAAGACATTAGGGGCACCTCTTGTCTCAGGCCCAGAATTTTGAAGGTGGGGAAACTTTTCAGATGGAGAAAATGAGGCCAAAACACCATAGGAGAAAGGACTCTGCCCCAGAGGCAGAGATTCTGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGGGTGCCCCCGTCCCACTTCTCCTGGATCACCCTTCTCTCCACGTTTTCCTGTAGACAAAAAAGGAAATCTTCATTTTTCAGAATTGGAAAATGCTTTTCCTCTATTTTTTGCTATGTTTCACGCAAAGAAATTATTCCTGTTTTGTGCTAGTTTGTAATAGAGGAAAGTTGGAAATGGTCACGCAGGGCTTGTTAAATAAAGGAAGGTGCAGACAAAGGATGGAAGATTATGTAACCAATAAAGTTTATTACAGGAAAGCAAGCATAACAATATCTAGCATTTACTGTGTCTCAGTGAACTAAGACAAACTCTATGTAAACTACTCTAAGGATAGTCCTCACTGCCACATGATGAGGTTGGTACTTTCAGTGTCCCCATTTTACAGATAGTAAACCTAAGGCCCAGGGAAATTAGCAGGTAACTCGTCTGAGAGCCACGATGAGAAAGGGGAGTCTGGATTCACACCCGTGTGTGGCTCCAGCCTGCCTGCTTTACTGCTCTGCTGGTCTGCCGCCCCATCTCTATTGACATGGAAAGATGCTTATGGGGTACCACTAAGCACATTCAAAAACAAACCCCAGAAACCCCGAGTGATAACATAGTACATTCATTGCCATCCGTTTGCTACTAGGAAAGAGCCCAGGAGTGTCTCCTGGACCATGTGGCTGAGGAACCGGGGAAGGGTCTGTATGTCATCCTGAGAAGGGAATGGGGAAAGGGCCGGCCTGGACAAATCCTCACTGCCTGGCCCCCATGCCCACCGCAGAGGAGCACTCACCCTTGGGCCCCGTGTTGCCGATCTGACCCACGGCTCCCACGATGCCAGGAACGCCCCGAGGGCCAGGGTGCCCATGGGGGCCCTGCTTGCCTGGGTACCCAGGGGGCCCAGGAGGTCCTGGAGGACCCATCATGCCCACCGCACCCAGGGCTTCCCGCTTGGCACTCACGGCGACCTCTGCCAGTTGCTCTGGAGGGAGGGAGGGAGGGAGGGAGAGGGAAGTCTATGAGATGGGTGTCAGCAGTAACACTAGGGGAGGCAGAGCATTCCGATGGGCCCTGGCCCCTAGGTTTGCAGACAGAAAAGCACCACCTTCCGTGGGCTCTGTTTTGCGGAAGTCAAAGGCCCAGAGTGACTTATTCAAGGTCCCAAAACCCTTCAGAGACTGGACTGGAAGGAGCCCCCAGGACTCCAGATTTTCAGACAAGTGAACACGTGGAGGCTCCGGGAGGGGGTGAGGGGGCGGCGATGCCCTCGAACTGACTGTGAGGAGGGGTTGCTGCCCCTCACCTTGCAGCATCTTCAGCGCCACATCCACGATGTGCTGGTCAGTGGCATCCCGGCCCTGAAAGCAGAGGCCTTTCAGGAAGAAGCCCCTGGCTACAAGGGCCCACCGCTCCTATCCCACCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACTCTGGTGTTGAGTCATTAATTCCCAAGCTGAGGAACAGATTGTACCTGGGCAGGGCCAAGGGCTTACTTGGGAAGGTCGCGGGGTAATCCCTCAGGCTGCACTCACAGCCTTCCTGTCTGCTCTGGGGCTTGGAACCAGTCTCGGGGAAGTCGGTGAGTCTCTGGGAATCCCTAGCCTTTGGCGGGTAAGCCGCACCCCAGAACAGATCTACCTAGAAGAAGCACCTCCTACCCCGGGGCCCGACTCACCTCCACGCCCTGTCTCCCGGGCTGTCCTGGCACGCCTCGGTTCCCGGCCAGTCCTCGAGGGCCGGGGGGACCAGGGTAGCCCTGAACCCCTGGGGCGCCCGCATCCCCGCTGGGGCCAGGGTAGCCGGGTTCTCCACGTACTCCTTGCTGCGGGGGGATGGGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCCGGGTGGGCGAGAGTGGGGGGTGGGGGTCGAGGAAGGGAGTGGCCGCCCAGGAAAGTCGGAGAACGCCGGGAGGGGAGGACTCACCTGTCCCTTGGGCCCCGGCTCGCCGGACTCGCCCTGCAGGCACAAGGAGCAGCGGTCACGAAGCCGCGGGGACCCCGGGGCCAGCCGCCGCTCCCCGCCCTTCCCTAGGCCGCGCGCTCACCTTCTCGCCTTTCTCTCCGGGGAGGCCGGCCACCCCTGGGTCACCCTGCAGAGAGAACCACGGGTCAGACGCGCGGTGGCGGCGGGGACGCAGAGCAGGGTTGGGGGTCGCTGGGAACAGGGGTGCTGGAACTCACCACTTTGCCGCGGGGCCCGGTCTTCCCTGGGGAGCCCTGGAGAAAGCGGGCAGTGAGGGGTTTGGCGAGCTCCCCCCTCCACGGGGTCCCCCACCTAACTTTCGGCCACACCCCTCTTTCCAACTCCGCCTCGCCGACCAGACCAGAACCCTGAGATCCGCAGGTTTGGAGGCTCCGGAAGGATCTGAGTCCTGCCGACCCCACTCCCCCTGTTATAGGGCCCCTTTCCCAGGTGTTTCCCAGCCCCATCTGGCACCTTGTCTCCTTTGACGCCTGGCAAGCCTTGGGGCCCTGGAATTCCGGGGGGGCCCTGCTCCCCCTTAGGGCCCTGAGGAGAAAAGAAACCAAAGGAATAAATGGAATGAGGGGCCTGGATATGACGCCCTGCCCACCTTAGCTGGCCTGCACTCACCTGCCTTCCCTGAGGGCCTGGTTGCCCCACTGGACCCCTCTCGCCTTGGTCACCCTGAAATGGAAAGAGAAGGTCACAACCTCAGCAGCTCTCAGCAGGGGTAGCCTCCCGCACCGAGGCCTGGCACCGCATGGTCAGGGTGCCCTCCATTCCTGCTGTCACTGGCAGGGGGTCCTTTCTCCACTTGGCAGACCAGCAAAGCAAACCTAGGCCCTGCCTGGGGAGGCATCTCACGGGCTGCACGGAGCAGATGCTGTATCCAGCAGTGCCAGCTGCCGCAGAGGCCCCCGGGGAGGGGCCATTGTGCCAGGCACTTACCTTCTGTCCCATGATGCCCTGGGGACCAATTTCTCCTCGAGGCCCTGGCTCTCCCTGGAGGAAGGAGAAA
|
ATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGGGGAGATGGTTTCCTGGACTGGGGATGGGTGCATGTCCACCCAGAGGGGACCTGGTCCTTCCCGCCAGGATGCCTGCCAGGCTCTGTCTGGGCCTGATGCTCAAGGCCCCTTGATGGATCCAGGCTCTGTAAGGCGGGCAGAGGCATAGGCCGAAGCTCCAAGGCAGGCGGCAGGTTCACAGAAGCCCGGCAGCCCCACGGGGCCTGGCAGGCCAGGTCGACCTGCCTCTCCTGGAGCCCCTGGGGACCCTCGATCTCCATCCTTGCCGTTGATTGCCTGGCCAGGCCGGCCAGGGAGTCCTGTGAACAGGAGAAAGTCAAGACATTAGGGGCACCTCTTGTCTCAGGCCCAGAATTTTGAAGGTGGGGAAACTTTTCAGATGGAGAAAATGAGGCCAAAACACCATAGGAGAAAGGACTCTGCCCCAGAGGCAGAGATTCTGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGGGTGCCCCCGTCCCACTTCTCCTGGATCACCCTTCTCTCCACGTTTTCCTGTAGACAAAAAAGGAAATCTTCATTTTTCAGAATTGGAAAATGCTTTTCCTCTATTTTTTGCTATGTTTCACGCAAAGAAATTATTCCTGTTTTGTGCTAGTTTGTAATAGAGGAAAGTTGGAAATGGTCACGCAGGGCTTGTTAAATAAAGGAAGGTGCAGACAAAGGATGGAAGATTATGTAACCAATAAAGTTTATTACAGGAAAGCAAGCATAACAATATCTAGCATTTACTGTGTCTCAGTGAACTAAGACAAACTCTATGTAAACTACTCTAAGGATAGTCCTCACTGCCACATGATGAGGTTGGTACTTTCAGTGTCCCCATTTTACAGATAGTAAACCTAAGGCCCAGGGAAATTAGCAGGTAACTCGTCTGAGAGCCACGATGAGAAAGGGGAGTCTGGATTCACACCCGTGTGTGGCTCCAGCCTGCCTGCTTTACTGCTCTGCTGGTCTGCCGCCCCATCTCTATTGACATGGAAAGATGCTTATGGGGTACCACTAAGCACATTCAAAAACAAACCCCAGAAACCCCGAGTGATAACATAGTACATTCATTGCCATCCGTTTGCTACTAGGAAAGAGCCCAGGAGTGTCTCCTGGACCATGTGGCTGAGGAACCGGGGAAGGGTCTGTATGTCATCCTGAGAAGGGAATGGGGAAAGGGCCGGCCTGGACAAATCCTCACTGCCTGGCCCCCATGCCCACCGCAGAGGAGCACTCACCCTTGGGCCCCGTGTTGCCGATCTGACCCACGGCTCCCACGATGCCAGGAACGCCCCGAGGGCCAGGGTGCCCATGGGGGCCCTGCTTGCCTGGGTACCCAGGGGGCCCAGGAGGTCCTGGAGGACCCATCATGCCCACCGCACCCAGGGCTTCCCGCTTGGCACTCACGGCGACCTCTGCCAGTTGCTCTGGAGGGAGAGAGGGAGGGAGGGAGGGAGAGGGAAGTCTATGAGATGGGTGTCAGCAGTAACACTAGGGGAGGCAGAGCATTCCGATGGGCCCTGGCCCCTAGGTTTGCAGACAGAAAAGCACCACCTTCCGTGGGCTCTGTTTTGCGGAAGTCAAAGGCCCAGAGTGACTTATTCAAGGTCCCAAAACCCTTCAGAGACTGGACTGGAAGGAGCCCCCAGGACTCCAGATTTTCAGACAAGTGAACACGTGGAGGCTCCGGGAGGGGGTGAGGGGGCGGCGATGCCCTCGAACTGACTGTGAGGAGGGGTTGCTGCCCCTCACCTTGCAGCATCTTCAGCGCCACATCCACGATGTGCTGGTCAGTGGCATCCCGGCCCTGAAAGCAGAGGCCTTTCAGGAAGAAGCCCCTGGCTACAAGGGCCCACCGCTCCTATCCCACCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACTCTGGTGTTGAGTCATTAATTCCCAAGCTGAGGAACAGATTGTACCTGGGCAGGGCCAAGGGCTTACTTGGGAAGGTCGCGGGGTAATCCCTCAGGCTGCACTCACAGCCTTCCTGTCTGCTCTGGGGCTTGGAACCAGTCTCGGGGAAGTCGGTGAGTCTCTGGGAATCCCTAGCCTTTGGCGGGTAAGCCGCACCCCAGAACAGATCTACCTAGAAGAAGCACCTCCTACCCCGGGGCCCGACTCACCTCCACGCCCTGTCTCCCGGGCTGTCCTGGCACGCCTCGGTTCCCGGCCAGTCCTCGAGGGCCGGGGGGACCAGGGTAGCCCTGAACCCCTGGGGCGCCCGCATCCCCGCTGGGGCCAGGGTAGCCGGGTTCTCCACGTACTCCTTGCTGCGGGGGGATGGGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCCGGGTGGGCGAGAGTGGGGGGTGGGGGTCGAGGAAGGGAGTGGCCGCCCAGGAAAGTCGGAGAACGCCGGGAGGGGAGGACTCACCTGTCCCTTGGGCCCCGGCTCGCCGGACTCGCCCTGCAGGCACAAGGAGCAGCGGTCACGAAGCCGCGGGGACCCCGGGGCCAGCCGCCGCTCCCCGCCCTTCCCTAGGCCGCGCGCTCACCTTCTCGCCTTTCTCTCCGGGGAGGCCGGCCACCCCTGGGTCACCCTGCAGAGAGAACCACGGGTCAGACGCGCGGTGGCGGCGGGGACGCAGAGCAGGGTTGGGGGTCGCTGGGAACAGGGGTGCTGGAACTCACCACTTTGCCGCGGGGCCCGGTCTTCCCTGGGGAGCCCTGGAGAAAGCGGGCAGTGAGGGGTTTGGCGAGCTCCCCCCTCCACGGGGTCCCCCACCTAACTTTCGGCCACACCCCTCTTTCCAACTCCGCCTCGCCGACCAGACCAGAACCCTGAGATCCGCAGGTTTGGAGGCTCCGGAAGGATCTGAGTCCTGCCGACCCCACTCCCCCTGTTATAGGGCCCCTTTCCCAGGTGTTTCCCAGCCCCATCTGGCACCTTGTCTCCTTTGACGCCTGGCAAGCCTTGGGGCCCTGGAATTCCGGGGGGGCCCTGCTCCCCCTTAGGGCCCTGAGGAGAAAAGAAACCAAAGGAATAAATGGAATGAGGGGCCTGGATATGACGCCCTGCCCACCTTAGCTGGCCTGCACTCACCTGCCTTCCCTGAGGGCCTGGTTGCCCCACTGGACCCCTCTCGCCTTGGTCACCCTGAAATGGAAAGAGAAGGTCACAACCTCAGCAGCTCTCAGCAGGGGTAGCCTCCCGCACCGAGGCCTGGCACCGCATGGTCAGGGTGCCCTCCATTCCTGCTGTCACTGGCAGGGGGTCCTTTCTCCACTTGGCAGACCAGCAAAGCAAACCTAGGCCCTGCCTGGGGAGGCATCTCACGGGCTGCACGGAGCAGATGCTGTATCCAGCAGTGCCAGCTGCCGCAGAGGCCCCCGGGGAGGGGCCATTGTGCCAGGCACTTACCTTCTGTCCCATGATGCCCTGGGGACCAATTTCTCCTCGAGGCCCTGGCTCTCCCTGGAGGAAGGA
|
benign
| 7,120 |
The chromosome 1, position 40303571 genetic variant in gene COL9A2 (collagen type IX alpha 2 chain): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Epiphyseal_dysplasia,_multiple,_2', 'Stickler_syndrome,_type_5']
|
TGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGGGTGCCCCCGTCCCACTTCTCCTGGATCACCCTTCTCTCCACGTTTTCCTGTAGACAAAAAAGGAAATCTTCATTTTTCAGAATTGGAAAATGCTTTTCCTCTATTTTTTGCTATGTTTCACGCAAAGAAATTATTCCTGTTTTGTGCTAGTTTGTAATAGAGGAAAGTTGGAAATGGTCACGCAGGGCTTGTTAAATAAAGGAAGGTGCAGACAAAGGATGGAAGATTATGTAACCAATAAAGTTTATTACAGGAAAGCAAGCATAACAATATCTAGCATTTACTGTGTCTCAGTGAACTAAGACAAACTCTATGTAAACTACTCTAAGGATAGTCCTCACTGCCACATGATGAGGTTGGTACTTTCAGTGTCCCCATTTTACAGATAGTAAACCTAAGGCCCAGGGAAATTAGCAGGTAACTCGTCTGAGAGCCACGATGAGAAAGGGGAGTCTGGATTCACACCCGTGTGTGGCTCCAGCCTGCCTGCTTTACTGCTCTGCTGGTCTGCCGCCCCATCTCTATTGACATGGAAAGATGCTTATGGGGTACCACTAAGCACATTCAAAAACAAACCCCAGAAACCCCGAGTGATAACATAGTACATTCATTGCCATCCGTTTGCTACTAGGAAAGAGCCCAGGAGTGTCTCCTGGACCATGTGGCTGAGGAACCGGGGAAGGGTCTGTATGTCATCCTGAGAAGGGAATGGGGAAAGGGCCGGCCTGGACAAATCCTCACTGCCTGGCCCCCATGCCCACCGCAGAGGAGCACTCACCCTTGGGCCCCGTGTTGCCGATCTGACCCACGGCTCCCACGATGCCAGGAACGCCCCGAGGGCCAGGGTGCCCATGGGGGCCCTGCTTGCCTGGGTACCCAGGGGGCCCAGGAGGTCCTGGAGGACCCATCATGCCCACCGCACCCAGGGCTTCCCGCTTGGCACTCACGGCGACCTCTGCCAGTTGCTCTGGAGGGAGGGAGGGAGGGAGGGAGAGGGAAGTCTATGAGATGGGTGTCAGCAGTAACACTAGGGGAGGCAGAGCATTCCGATGGGCCCTGGCCCCTAGGTTTGCAGACAGAAAAGCACCACCTTCCGTGGGCTCTGTTTTGCGGAAGTCAAAGGCCCAGAGTGACTTATTCAAGGTCCCAAAACCCTTCAGAGACTGGACTGGAAGGAGCCCCCAGGACTCCAGATTTTCAGACAAGTGAACACGTGGAGGCTCCGGGAGGGGGTGAGGGGGCGGCGATGCCCTCGAACTGACTGTGAGGAGGGGTTGCTGCCCCTCACCTTGCAGCATCTTCAGCGCCACATCCACGATGTGCTGGTCAGTGGCATCCCGGCCCTGAAAGCAGAGGCCTTTCAGGAAGAAGCCCCTGGCTACAAGGGCCCACCGCTCCTATCCCACCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACTCTGGTGTTGAGTCATTAATTCCCAAGCTGAGGAACAGATTGTACCTGGGCAGGGCCAAGGGCTTACTTGGGAAGGTCGCGGGGTAATCCCTCAGGCTGCACTCACAGCCTTCCTGTCTGCTCTGGGGCTTGGAACCAGTCTCGGGGAAGTCGGTGAGTCTCTGGGAATCCCTAGCCTTTGGCGGGTAAGCCGCACCCCAGAACAGATCTACCTAGAAGAAGCACCTCCTACCCCGGGGCCCGACTCACCTCCACGCCCTGTCTCCCGGGCTGTCCTGGCACGCCTCGGTTCCCGGCCAGTCCTCGAGGGCCGGGGGGACCAGGGTAGCCCTGAACCCCTGGGGCGCCCGCATCCCCGCTGGGGCCAGGGTAGCCGGGTTCTCCACGTACTCCTTGCTGCGGGGGGATGGGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCCGGGTGGGCGAGAGTGGGGGGTGGGGGTCGAGGAAGGGAGTGGCCGCCCAGGAAAGTCGGAGAACGCCGGGAGGGGAGGACTCACCTGTCCCTTGGGCCCCGGCTCGCCGGACTCGCCCTGCAGGCACAAGGAGCAGCGGTCACGAAGCCGCGGGGACCCCGGGGCCAGCCGCCGCTCCCCGCCCTTCCCTAGGCCGCGCGCTCACCTTCTCGCCTTTCTCTCCGGGGAGGCCGGCCACCCCTGGGTCACCCTGCAGAGAGAACCACGGGTCAGACGCGCGGTGGCGGCGGGGACGCAGAGCAGGGTTGGGGGTCGCTGGGAACAGGGGTGCTGGAACTCACCACTTTGCCGCGGGGCCCGGTCTTCCCTGGGGAGCCCTGGAGAAAGCGGGCAGTGAGGGGTTTGGCGAGCTCCCCCCTCCACGGGGTCCCCCACCTAACTTTCGGCCACACCCCTCTTTCCAACTCCGCCTCGCCGACCAGACCAGAACCCTGAGATCCGCAGGTTTGGAGGCTCCGGAAGGATCTGAGTCCTGCCGACCCCACTCCCCCTGTTATAGGGCCCCTTTCCCAGGTGTTTCCCAGCCCCATCTGGCACCTTGTCTCCTTTGACGCCTGGCAAGCCTTGGGGCCCTGGAATTCCGGGGGGGCCCTGCTCCCCCTTAGGGCCCTGAGGAGAAAAGAAACCAAAGGAATAAATGGAATGAGGGGCCTGGATATGACGCCCTGCCCACCTTAGCTGGCCTGCACTCACCTGCCTTCCCTGAGGGCCTGGTTGCCCCACTGGACCCCTCTCGCCTTGGTCACCCTGAAATGGAAAGAGAAGGTCACAACCTCAGCAGCTCTCAGCAGGGGTAGCCTCCCGCACCGAGGCCTGGCACCGCATGGTCAGGGTGCCCTCCATTCCTGCTGTCACTGGCAGGGGGTCCTTTCTCCACTTGGCAGACCAGCAAAGCAAACCTAGGCCCTGCCTGGGGAGGCATCTCACGGGCTGCACGGAGCAGATGCTGTATCCAGCAGTGCCAGCTGCCGCAGAGGCCCCCGGGGAGGGGCCATTGTGCCAGGCACTTACCTTCTGTCCCATGATGCCCTGGGGACCAATTTCTCCTCGAGGCCCTGGCTCTCCCTGGAGGAAGGAGAAATTGGGGCTAAGCGTTTGACCTGGTGGAACCCACCCTTCCACACCTGGCCAGCCCCTCCCTACCCTGGGTCTCAGCTAATTTGCTTCATCAGGGAAGGTTTCCCAGACCACCTGTTCCATGGTTTTGGGTCCCTGTAGTTTTCTTTCAAAGGACCCAACACAATTTGAATTACTTATCATGTGATCATTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGTGCCTGCCACCGCCCCAGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGTGATCATTTATTTCATGTCTATTTCTTCCATTAAACTATACCCTCCATATGAAGAGGAGACTCATAGTTGCAAGTGTTTAGTGAATGTTTATGCAATGAATAAATGAACGAACAACTCTGCCTGTTGGATTCCCAGCCCATCAACTTGGCCATCTAGGAAAGTCACACTCCAGAACAGAGCCAGTCCCCACCCTCCCTGCAATGTACATAGGGAAACAGGCCCAGGGAGGAGAAAGAGCTTCCCTGAATCATTGGGTCAGGGCA
|
TGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGGGTGCCCCCGTCCCACTTCTCCTGGATCACCCTTCTCTCCACGTTTTCCTGTAGACAAAAAAGGAAATCTTCATTTTTCAGAATTGGAAAATGCTTTTCCTCTATTTTTTGCTATGTTTCACGCAAAGAAATTATTCCTGTTTTGTGCTAGTTTGTAATAGAGGAAAGTTGGAAATGGTCACGCAGGGCTTGTTAAATAAAGGAAGGTGCAGACAAAGGATGGAAGATTATGTAACCAATAAAGTTTATTACAGGAAAGCAAGCATAACAATATCTAGCATTTACTGTGTCTCAGTGAACTAAGACAAACTCTATGTAAACTACTCTAAGGATAGTCCTCACTGCCACATGATGAGGTTGGTACTTTCAGTGTCCCCATTTTACAGATAGTAAACCTAAGGCCCAGGGAAATTAGCAGGTAACTCGTCTGAGAGCCACGATGAGAAAGGGGAGTCTGGATTCACACCCGTGTGTGGCTCCAGCCTGCCTGCTTTACTGCTCTGCTGGTCTGCCGCCCCATCTCTATTGACATGGAAAGATGCTTATGGGGTACCACTAAGCACATTCAAAAACAAACCCCAGAAACCCCGAGTGATAACATAGTACATTCATTGCCATCCGTTTGCTACTAGGAAAGAGCCCAGGAGTGTCTCCTGGACCATGTGGCTGAGGAACCGGGGAAGGGTCTGTATGTCATCCTGAGAAGGGAATGGGGAAAGGGCCGGCCTGGACAAATCCTCACTGCCTGGCCCCCATGCCCACCGCAGAGGAGCACTCACCCTTGGGCCCCGTGTTGCCGATCTGACCCACGGCTCCCACGATGCCAGGAACGCCCCGAGGGCCAGGGTGCCCATGGGGGCCCTGCTTGCCTGGGTACCCAGGGGGCCCAGGAGGTCCTGGAGGACCCATCATGCCCACCGCACCCAGGGCTTCCCGCTTGGCACTCACGGCGACCTCTGCCAGTTGCTCTGGAGGGAGGGAGGGAGGGAGGGAGAGGGAAGTCTATGAGATGGGTGTCAGCAGTAACACTAGGGGAGGCAGAGCATTCCGATGGGCCCTGGCCCCTAGGTTTGCAGACAGAAAAGCACCACCTTCCGTGGGCTCTGTTTTGCGGAAGTCAAAGGCCCAGAGTGACTTATTCAAGGTCCCAAAACCCTTCAGAGACTGGACTGGAAGGAGCCCCCAGGACTCCAGATTTTCAGACAAGTGAACACGTGGAGGCTCCGGGAGGGGGTGAGGGGGCGGCGATGCCCTCGAACTGACTGTGAGGAGGGGTTGCTGCCCCTCACCTTGCAGCATCTTCAGCGCCACATCCACGATGTGCTGGTCAGTGGCATCCCGGCCCTGAAAGCAGAGGCCTTTCAGGAAGAAGCCCCTGGCTACAAGGGCCCACCGCTCCTATCCCACCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACTCTGGTGTTGAGTCATTAATTCCCAAGCTGAGGAACAGATTGTACCTGGGCAGGGCCAAGGGCTTACTTGGGAAGGTCGCGGGGTAATCCCTCAGGCTGCACTCACAGCCTTCCTGTCTGCTCTGGGGCTTGGAACCAGTCTCGGGGAAGTCGGTGAGTCTCTGGGAATCCCTAGCCTTTGGCGGGTAAGCCGCACCCCAGAACAGATCTACCTAGAAGAAGCACCTCCTACCCCGGGGCCCGACTCACCTCCACGCCCTGTCTCCCGGGCTGTCCTGGCACGCCTCGGTTCCGGCCAGTCCTCGAGGGCCGGGGGGACCAGGGTAGCCCTGAACCCCTGGGGCGCCCGCATCCCCGCTGGGGCCAGGGTAGCCGGGTTCTCCACGTACTCCTTGCTGCGGGGGGATGGGGGTGGGAGCAGAGCCGGGTGAGAAGGCGCCCGGGTGGGCGAGAGTGGGGGGTGGGGGTCGAGGAAGGGAGTGGCCGCCCAGGAAAGTCGGAGAACGCCGGGAGGGGAGGACTCACCTGTCCCTTGGGCCCCGGCTCGCCGGACTCGCCCTGCAGGCACAAGGAGCAGCGGTCACGAAGCCGCGGGGACCCCGGGGCCAGCCGCCGCTCCCCGCCCTTCCCTAGGCCGCGCGCTCACCTTCTCGCCTTTCTCTCCGGGGAGGCCGGCCACCCCTGGGTCACCCTGCAGAGAGAACCACGGGTCAGACGCGCGGTGGCGGCGGGGACGCAGAGCAGGGTTGGGGGTCGCTGGGAACAGGGGTGCTGGAACTCACCACTTTGCCGCGGGGCCCGGTCTTCCCTGGGGAGCCCTGGAGAAAGCGGGCAGTGAGGGGTTTGGCGAGCTCCCCCCTCCACGGGGTCCCCCACCTAACTTTCGGCCACACCCCTCTTTCCAACTCCGCCTCGCCGACCAGACCAGAACCCTGAGATCCGCAGGTTTGGAGGCTCCGGAAGGATCTGAGTCCTGCCGACCCCACTCCCCCTGTTATAGGGCCCCTTTCCCAGGTGTTTCCCAGCCCCATCTGGCACCTTGTCTCCTTTGACGCCTGGCAAGCCTTGGGGCCCTGGAATTCCGGGGGGGCCCTGCTCCCCCTTAGGGCCCTGAGGAGAAAAGAAACCAAAGGAATAAATGGAATGAGGGGCCTGGATATGACGCCCTGCCCACCTTAGCTGGCCTGCACTCACCTGCCTTCCCTGAGGGCCTGGTTGCCCCACTGGACCCCTCTCGCCTTGGTCACCCTGAAATGGAAAGAGAAGGTCACAACCTCAGCAGCTCTCAGCAGGGGTAGCCTCCCGCACCGAGGCCTGGCACCGCATGGTCAGGGTGCCCTCCATTCCTGCTGTCACTGGCAGGGGGTCCTTTCTCCACTTGGCAGACCAGCAAAGCAAACCTAGGCCCTGCCTGGGGAGGCATCTCACGGGCTGCACGGAGCAGATGCTGTATCCAGCAGTGCCAGCTGCCGCAGAGGCCCCCGGGGAGGGGCCATTGTGCCAGGCACTTACCTTCTGTCCCATGATGCCCTGGGGACCAATTTCTCCTCGAGGCCCTGGCTCTCCCTGGAGGAAGGAGAAATTGGGGCTAAGCGTTTGACCTGGTGGAACCCACCCTTCCACACCTGGCCAGCCCCTCCCTACCCTGGGTCTCAGCTAATTTGCTTCATCAGGGAAGGTTTCCCAGACCACCTGTTCCATGGTTTTGGGTCCCTGTAGTTTTCTTTCAAAGGACCCAACACAATTTGAATTACTTATCATGTGATCATTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGTGCCTGCCACCGCCCCAGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCGGTCTGGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGTGATCATTTATTTCATGTCTATTTCTTCCATTAAACTATACCCTCCATATGAAGAGGAGACTCATAGTTGCAAGTGTTTAGTGAATGTTTATGCAATGAATAAATGAACGAACAACTCTGCCTGTTGGATTCCCAGCCCATCAACTTGGCCATCTAGGAAAGTCACACTCCAGAACAGAGCCAGTCCCCACCCTCCCTGCAATGTACATAGGGAAACAGGCCCAGGGAGGAGAAAGAGCTTCCCTGAATCATTGGGTCAGGGCAN
|
pathogenic
| 7,128 |
Does the variant impacting COL9A2 (collagen type IX alpha 2 chain) on chromosome 1, position 40307477, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
TGTTTAGTGAATGTTTATGCAATGAATAAATGAACGAACAACTCTGCCTGTTGGATTCCCAGCCCATCAACTTGGCCATCTAGGAAAGTCACACTCCAGAACAGAGCCAGTCCCCACCCTCCCTGCAATGTACATAGGGAAACAGGCCCAGGGAGGAGAAAGAGCTTCCCTGAATCATTGGGTCAGGGCAGAGCCAGACTAACTCGGAGCTCTCCCTAGGTTAGGGCTCCACCCCATGGCCTCACCCTAAAGCAGGAACCCTTGTGTCAGTGCAGGGGGCATTTACCTCTTTCCCAGGGGGACCAGAGAATCCAGGAAGGCCCTGCGGGCCCGGCTCACCCTGCAGGAAAACAGTTCTCAGGTCAGTCTGGGTGGCCCAGTCAGGCCCTTGGCCTCAGGGAAACCCAACGAAGCCTAAACAGAGCCTGGAACCAGATGAGCTGGGACGGGGGAGAGGGTATTCTTGGTTCAATCCTCTTGGCTCCTGATTTTCCTGTTTGTTTCTCCTCTGGATTTTAAGCCATGCCATCCTATCTGCACTGAGGCAGGCTGAGGAGTGCATGATGGGTGGGAGGTGGCAGGAGGGAGGTGGTTAGGCCCAAGGGGCTTATGTTCTGGCTGAGCCTCTGAGACTTGGCTGAGGCCTGGGCCTTGCTGTCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGCTTGGGATCGCCTCACCTGGTCTCCAGGGCCTCCTTTTGTCCCAGGCTGGCCTGGCACACCCTGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCTTCCCATCCCCAATCCAGATTTCCCCCACCTGTGGGAGCTGAACAACAGAAGGTCCAGCCACGGCATGATGAACTTAACTGTACATTCCCACAGTGGTGGCAGAGGAGTGGGGCACAGAGAATGGCCTGTCTTCCAGGACCTGGGGTCTACGTGGAAGAGATGGATATGTGCTCTCAGGTGCCTGAGCCCATGTGAGTGCACGCAGGAACACAAGTCTGCATGTGTGCACAGAAACAGGTTTGGCCACTCAGTACCCCCACAGGGAGGGAGGGCAGGCTCCCATGGACTGGACTCCAGGAGGTATGGAATGGAGATGGCCCTGAACGATAAGAAGGCACAAAGAGACCAGAAAGGGCATTTCAAACAGAGGGACCAGCAAAGGCCTAAAGGTGTGGAGGCAGAAAAGCCAAGGCCTGTTGAGAAGGGAAAGGACAGAGAGGGGCCATTGCTGATATGGCAGGAGGGGCAGGTTGGGGTCAGATTATGGTGGTCATTGAATGGTAAGATGAGCCATGAAGACAAAGATTGCATCTGTCCTATTTATAATTGTTTACCTGCCACTTAGTATACCTCAGATACTCAATAACTATTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCAGTGCAACCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGAGCCGCCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTGTCACCACATTGGCCAGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCACTCAGCTGAGCCTCCTGAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGACCTCAATAACTACTTATTGAAGGACTGGACTGAATGACTTTTTCCTGGAGGCGGTGGGGAGCCATGGAAGGTGCTATAGTGCAGAAATGGTCAGATCCCATTTAGCCAACATGGAGGACTGGAATGGCCAAAGAGAAGGCTAGAGTAATTGTCCAAGTAATGAAGCCTTCGCCAGGCCAGGGGCCACAGAGTTGGTAACAAGGCAAGAGGTGGTGATTGAGCAAGAGCCCCGGGTGTGTGTGGATTCTAACCTCATCAGCCACTAGCCCCTGGCCAGCCCCTGTGGCTCCACCTGACACTTACCGCTAGGCCCTGGTGGCCTGGACTTCCGGGCTGTCCCGCCTGTCCTGCACTGCCCTGGGATAGACAGATAACCAAAGATACAAATTAAAGCTCCAGCCAGAGGGCCATGGCTTCTACCCAGATGCAGGTAGGGAAACTGAGATCCAGAGGCAAGAAAGGGCATGTCCATGACCTGAGGACCCCAGGCTCTTGGTGTCTAGAATCCAGGACTCAAGGTCCTGCCCCTGCCCCAGTCCCATCAGCAGCCCCACTCCTACCTTCATGCCAGGCGTGCCTGGGGTCCCATCCTTGCCGTTGATGCCTGGGGGGCCCTACCCAGGAGGAAAGTTCAAGGGAGAGTGATAATGCGGAGATGTCTGGGGTCTGGCCACCCACCCCTGTTCCTCTGAGACAGCTGCAGTGTGCAGGGAGGGAGTGGCTCTGGTCATCCCAGGAAGCCCCACTGGCCAACTGGGGGAGGGGAGTTGAAGTGGGAAGGGGATGAGGGTCACGGAACACAGTCCTTCCCTAGTGTGGAGGGTGGTGTCCCCGACTGCTGCAAGCTCCCCATGACCTCCCGTATGTCATCACCCCTGTTTACAGGTGAAGAAACTGAGGCACAGAAAGGGAGGCATTTCCTGAGGTTATGGAGCCAGCCCACCAGTTGCAGAGTTCAGACTAGCATCCCAGGCTTCTCTTCTGGGGGTTTGGACAAAGCAGCTGGGCCCTGGCCTCTGTCCTGGTGGGCCTAGGCCTCTGGCACCTACCGTTGCTCCTTTCGGGCCTGTGATCCCCTGGGGTCCACGAATACCTGGGCTGCCCTGCAAAGCGGAGAGAGATCAGGTCACCCTCAGGATGTTGGGCCCCTGTCTGGCTGTGCAGAGAGGGGAACCACTGAGAACAGTGGCCTCTAGGTCCCAGAGTTCCTCTGGCACAGGCCACACCATGCAGGGGCCGGAGGAGAGAGCCTTGGGAGTACCCTTCCTGCCCTGGCACCAGCAGGAGGGAGGAGAAGTCAGTGCCAGGAGGCCAGGCTGGGCTGAGCCAGAGCAGGGGTGGGAGCCAGAATCCACTGAGACCTTGGCCAAGGCCCCACAATCCACTCAGCCAAAGGAACACAACAACCGAATGCAGTGTGTGGATGCTGTGTGAGTCTTGATTTGAACAAGAACCAGGAAAAGACATTTTTGAGATAATTGGGAAAAACTGAACAGAGACTGGCCATTAGATGATGTTAGGGAGTACTTGTTTATTTTGTCAGTTGTGATAATGTGATTATGTGAGAATGAGTGCTTATTGTTTAGAGATATGTACAAAAGTATCTAGGGCTGAGATGATAGGATGTTAAGGATTTACTTGAAAACATCAGAGCAAAGCAATAACAAAATCAAAGGAAGGAGGGGTCTGGGGGATAGAGGACACAAGACTGACAAAATGTTAATAACTGAATTGGAACCTGTGATAGGTACATGGGGATTCTTTATATCACTCTCACTGGTTTTCTGTATAGTTAAAAAATTGCATTAAAAAACTAGATATTGCTGGGCGTGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGAGCATGGTGGCGCATGCCTGTAATCCCAGCCACTTGGGTGGCTGAGGCAAGAGAATCTCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATGCACTCCAGCCTGGGCAACAAGAATAAAACTCCATCTCAAAAACAAAACAAAACAAAACAACTAGATGATCTCTGCTGTCTAATAGAAAAATAAAAGTATAAGAATTTTTTAATTTTTAAAAAGAAAAGAAAATAATTTAAAAAACTAAATAATAATAACAGTTAACTGTGTTTTCTGCTCCATTTTTCTGTAAACTTAAAACCGCTTCCCCCAACAGGTCTATTAATTGGGAAAAAAAAAAAAAAAGAGTTAAGAGAACTGGGATCGAGACCAAATCCCATTAGCCCCATGGCTGATTTGCTGGAATCTCATTGTCTGGCC
|
TGTTTAGTGAATGTTTATGCAATGAATAAATGAACGAACAACTCTGCCTGTTGGATTCCCAGCCCATCAACTTGGCCATCTAGGAAAGTCACACTCCAGAACAGAGCCAGTCCCCACCCTCCCTGCAATGTACATAGGGAAACAGGCCCAGGGAGGAGAAAGAGCTTCCCTGAATCATTGGGTCAGGGCAGAGCCAGACTAACTCGGAGCTCTCCCTAGGTTAGGGCTCCACCCCATGGCCTCACCCTAAAGCAGGAACCCTTGTGTCAGTGCAGGGGGCATTTACCTCTTTCCCAGGGGGACCAGAGAATCCAGGAAGGCCCTGCGGGCCCGGCTCACCCTGCAGGAAAACAGTTCTCAGGTCAGTCTGGGTGGCCCAGTCAGGCCCTTGGCCTCAGGGAAACCCAACGAAGCCTAAACAGAGCCTGGAACCAGATGAGCTGGGACGGGGGAGAGGGTATTCTTGGTTCAATCCTCTTGGCTCCTGATTTTCCTGTTTGTTTCTCCTCTGGATTTTAAGCCATGCCATCCTATCTGCACTGAGGCAGGCTGAGGAGTGCATGATGGGTGGGAGGTGGCAGGAGGGAGGTGGTTAGGCCCAAGGGGCTTATGTTCTGGCTGAGCCTCTGAGACTTGGCTGAGGCCTGGGCCTTGCTGTCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGCTTGGGATCGCCTCACCTGGTCTCCAGGGCCTCCTTTTGTCCCAGGCTGGCCTGGCACACCCTGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCTTCCCATCCCCAATCCAGATTTCCCCCACCTGTGGGAGCTGAACAACAGAAGGTCCAGCCACGGCATGATGAACTTAACTGTACATTCCCACAGTGGTGGCAGAGGAGTGGGGCACAGAGAATGGCCTGTCTTCCAGGACCTGGGGTCTACGTGGAAGAGATGGATATGTGCTCTCAGGTGCCTGAGCCCATGTGAGTGCACGCAGGAACACAAGTCTGCATGTGTGCACAGAAACAGGTTTGGCCACTCAGTACCCCCACAGGGAGGGAGGGCAGGCTCCCATGGACTGGACTCCAGGAGGTATGGAATGGAGATGGCCCTGAACGATAAGAAGGCACAAAGAGACCAGAAAGGGCATTTCAAACAGAGGGACCAGCAAAGGCCTAAAGGTGTGGAGGCAGAAAAGCCAAGGCCTGTTGAGAAGGGAAAGGACAGAGAGGGGCCATTGCTGATATGGCAGGAGGGGCAGGTTGGGGTCAGATTATGGTGGTCATTGAATGGTAAGATGAGCCATGAAGACAAAGATTGCATCTGTCCTATTTATAATTGTTTACCTGCCACTTAGTATACCTCAGATACTCAATAACTATTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCAGTGCAACCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGAGCCGCCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTGTCACCACATTGGCCAGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCACTCAGCTGAGCCTCCTGAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGACCTCAATAACTACTTATTGAAGGACTGGACTGAATGACTTTTTCCTGGAGGCGGTGGGGAGCCATGGAAGGTGCTATAGTGCAGAAATGGTCAGATCCCATTTAGCCAACATGGAGGACTGGAATGGCCAAAGAGAAGGCTAGAGTAATTGTCCAAGTAATGAAGCCTTCGCCAGGCCAGGGGCCACAGAGTTGGTAACAAGGCAAGAGGTGGTGATTGAGCAAGAGCCCCGGGTGTGTGTGGATTCTAACCTCATCAGCCACTAGCCCCTGGCCAGCCCCTGTGGCTCCACCTGACACTTACCGCTAGGCCCTGGTGGCCTGGACTTCCGGGCCATCCCGCCTGTCCTGCACTGCCCTGGGATAGACAGATAACCAAAGATACAAATTAAAGCTCCAGCCAGAGGGCCATGGCTTCTACCCAGATGCAGGTAGGGAAACTGAGATCCAGAGGCAAGAAAGGGCATGTCCATGACCTGAGGACCCCAGGCTCTTGGTGTCTAGAATCCAGGACTCAAGGTCCTGCCCCTGCCCCAGTCCCATCAGCAGCCCCACTCCTACCTTCATGCCAGGCGTGCCTGGGGTCCCATCCTTGCCGTTGATGCCTGGGGGGCCCTACCCAGGAGGAAAGTTCAAGGGAGAGTGATAATGCGGAGATGTCTGGGGTCTGGCCACCCACCCCTGTTCCTCTGAGACAGCTGCAGTGTGCAGGGAGGGAGTGGCTCTGGTCATCCCAGGAAGCCCCACTGGCCAACTGGGGGAGGGGAGTTGAAGTGGGAAGGGGATGAGGGTCACGGAACACAGTCCTTCCCTAGTGTGGAGGGTGGTGTCCCCGACTGCTGCAAGCTCCCCATGACCTCCCGTATGTCATCACCCCTGTTTACAGGTGAAGAAACTGAGGCACAGAAAGGGAGGCATTTCCTGAGGTTATGGAGCCAGCCCACCAGTTGCAGAGTTCAGACTAGCATCCCAGGCTTCTCTTCTGGGGGTTTGGACAAAGCAGCTGGGCCCTGGCCTCTGTCCTGGTGGGCCTAGGCCTCTGGCACCTACCGTTGCTCCTTTCGGGCCTGTGATCCCCTGGGGTCCACGAATACCTGGGCTGCCCTGCAAAGCGGAGAGAGATCAGGTCACCCTCAGGATGTTGGGCCCCTGTCTGGCTGTGCAGAGAGGGGAACCACTGAGAACAGTGGCCTCTAGGTCCCAGAGTTCCTCTGGCACAGGCCACACCATGCAGGGGCCGGAGGAGAGAGCCTTGGGAGTACCCTTCCTGCCCTGGCACCAGCAGGAGGGAGGAGAAGTCAGTGCCAGGAGGCCAGGCTGGGCTGAGCCAGAGCAGGGGTGGGAGCCAGAATCCACTGAGACCTTGGCCAAGGCCCCACAATCCACTCAGCCAAAGGAACACAACAACCGAATGCAGTGTGTGGATGCTGTGTGAGTCTTGATTTGAACAAGAACCAGGAAAAGACATTTTTGAGATAATTGGGAAAAACTGAACAGAGACTGGCCATTAGATGATGTTAGGGAGTACTTGTTTATTTTGTCAGTTGTGATAATGTGATTATGTGAGAATGAGTGCTTATTGTTTAGAGATATGTACAAAAGTATCTAGGGCTGAGATGATAGGATGTTAAGGATTTACTTGAAAACATCAGAGCAAAGCAATAACAAAATCAAAGGAAGGAGGGGTCTGGGGGATAGAGGACACAAGACTGACAAAATGTTAATAACTGAATTGGAACCTGTGATAGGTACATGGGGATTCTTTATATCACTCTCACTGGTTTTCTGTATAGTTAAAAAATTGCATTAAAAAACTAGATATTGCTGGGCGTGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGAGCATGGTGGCGCATGCCTGTAATCCCAGCCACTTGGGTGGCTGAGGCAAGAGAATCTCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATGCACTCCAGCCTGGGCAACAAGAATAAAACTCCATCTCAAAAACAAAACAAAACAAAACAACTAGATGATCTCTGCTGTCTAATAGAAAAATAAAAGTATAAGAATTTTTTAATTTTTAAAAAGAAAAGAAAATAATTTAAAAAACTAAATAATAATAACAGTTAACTGTGTTTTCTGCTCCATTTTTCTGTAAACTTAAAACCGCTTCCCCCAACAGGTCTATTAATTGGGAAAAAAAAAAAAAAAGAGTTAAGAGAACTGGGATCGAGACCAAATCCCATTAGCCCCATGGCTGATTTGCTGGAATCTCATTGTCTGGCC
|
benign
| 7,159 |
Evaluate if the mutation on chromosome 1 at position 40311460 in COL9A2 (collagen type IX alpha 2 chain) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
CCCCAACAGGTCTATTAATTGGGAAAAAAAAAAAAAAAGAGTTAAGAGAACTGGGATCGAGACCAAATCCCATTAGCCCCATGGCTGATTTGCTGGAATCTCATTGTCTGGCCCCAGTGACCATGGGACTGGATCCCAGGGCTTCGCCTAAAGTCTGAATTTGGGCTGACTGGGCTCTTGGCACAGATGGTCCTCCCCAGCAGGTCACCCACTTGGGCAGACACACACACACTCACTCACACACACATACATACACTCACAGTCACACACACACACTCAGAGATATCCTCACACACTCACATACACATACTACACACACTCACAGACAGCCTCACACATACACACTGTACACATACACTCATATACACACAGTCTACACACACACACACTACACACTCACACACACTACACATTCACACTCACGCACACACTCATGCACTCTCACACACACAGCCTTAGGGGGTGCCTTGTCCTGCCCAGTACTCCCCAGGGGTCCTGACTGAACAATGGGTGCCTGAGGACTCACCTCGTCACCCTTCTCCCCAGCTCGGCCTGGCGGTCCCCTAGGACCTTCCTCACCCTGGCAAGAAAGACAAGCAGGAATCCAGGTCACACAGGCTCAGGGGGAGCCATGCCCACTCTGTGGCTGTAGCTGTAGGAGCTCCAGCCTCAGGGGTAGGGGAGCAAAAAGAGGCTTACCGGTGGCCCAGTGGCACCGATAGCGCCCACCATGCCTTTATATCCATGAGGGCCCTGGGGAGAGGAAAGGGTTGCAGGTCAGTCCTGGCTGAACTCCAGGGGCCAGAAGGCAGCTCCTGGAAGCTCTTGTAGAACACCCCAAGATTCACTTACCGTCTCTCCCTTGGGCCCTGCCATGCCTGGGTAGCCCCTGATGCCCTGGGGACCCTGTTGAGAAAGAAAAATGACAGCAATGGCAATTGCAAGGCCCACTTCATGATACCTTGTCTGATGCCCACCTTCAATCTTACAGTGCCCTTTTGAGGTAGGCAGCAGAGTCTCTGTCTCATGGATGGGACATGGAGGTTCAGAGATGAGGAGGGACTCACTGCATTACTCAAAGGGACAGTGGCAGACCTGGACCTCAGCCTGGGCTTCTTGCTGACAGCTTTGGTTCCTGTCCCTCATTCCTGACAATTTCAGCCTCCATCTCCCCATCCAGAGATGCTCCCAGCTAGACACAGGTGTCTCTTTTACAAGCTAGAGGCCTGAGCAGGGGAATGACTCCATGAAGGGCTCCTGGGGTGAGGGAGAAGAGGGCCACTGAGGCAAGGTGTTCCTTACCGGTGGTCCAGGGATGCCTTGCTCTCCAGAGGCACCCACATCTCCCTTGGGACCCTAAAGGGCAGGGATGAGCTGTCAGACAGGCAGGCAGATGGAAAGACACATATACAGACAAGCAAAGATACCACCTCTTTTCCCCAGCACAAGCAGACGGGAGGGACTACTACGAACCCTACAGTCCTGTGTTACAGATAGAGAAAAGCCAAGCAAGGAGACATGACCAGAGACATGCCGACCTGGAGCACAGGCCTCCAGCCCCCGGCTCAAGGCTCTGTCCCCAGAACCCACAGGGGAAGGGGAAGGGACGAAGAAGGGGACAGAGCCCTGTAGGACCATCTCCACGTATCCCTGACCCACAGCCCTCAGCCCTTGCACTCACCGGCTTCCCCTGGTGGCCAGGATCACCCAGAATCCCGCGTTTGCCCGCATGCCCCTGAAGGGAAGGAGAGAGCTCAATACGAGGTCCCCTCCTGTCACCTGCACCACCCTCCCAAGATTCAGGCCAGGAGCTCTCACCTTCACTCCCTGCAGCCCTGGGGGACCTTTCATTCCGGGTGGACAGTTGGTTGGACACTGGAAACAGAAAATCCCACAGGGTCCTGTGATCAGCTGGGCAGTGCGCCCCCATCTCTCCAAGCCCCGTGCTCTCCTCCGCCTCACCTGGTGGAACCCCTGCACTGCAGCCCCTCCCCATCTCTCCAGACACCCCCATCTCCGTGGCCCCGCCTCCCCATCTCTGTGGCCCCGCCCCCCTGTGTTAGCCCCGCCCCAGACCTCGTCTCTCACCAGGAAATCCGCACTGCCTTCCAGACCCTGGATGGTTCCCGGGCGACCCTGAGAGGAGACATGAAGATGGAGCTTGGCCTGACCCTTTCCCGCCGCAGGCTTGCTCAAAGACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCCTCCTCCAGGTCCTGCCTCTGCCCTCTCCACCCTGTCTTCCCGGTCACTTTGTGAGATCCACCATCTTGGGAGATGAAGGCCTGATTGACAGGGGATGGGGCCAGCGGCGTCCCTAAAAGACCTAGTGCCGGGTGGGCTCATAGGAGGGGTTTCTGCCCCAGACCTGGAGGAGTTTCCCAGTGGCCAGGAGCAGGCCCAGGAACTTCCAGAAAGACCACCCAGCTTGCCAGCTTGGAGATAGAAGGCAGGAGGCAGTGAACAGAGGGTGGCTGAGGCTCACCTTGGGGCCTCGGATTCCAATCTCACCAGGGAGGCCAACAGGTCCAGGAGGCCCCTGGGGAGCAGAGAGTTGATGGTCAGGATGCCTCAGAGGGTCAGATACCCTGGGCACAAAGGTAGAGACAGGCACCCAAAGCCCGTTTCTCCACTTTTACTTTTTTTTTTTTTTTGCCAACCCCAGAGAGACTGACAGACTGAGGCTTTAAGGACCAGAGAATTGCAGAGCCAGTGGACAGGCCCAGAGTGGGCTGGCCCTGGGTCTCTGGCAGGTCCACTTATTCCTGACACTATCACAGCAAGCTGGCTCCTTCCCATGGTGGCCATTCCCTCGAAGCCTTTCTGTTGTCCCCTCCTTCCCTGGGAGTTCTGGGGATCCTGCCCCATCCCTGAGGACTTACAGGAGGTCCAGCAAAACCAGGGCCCTGGAACAGAAAGAAAGAAAATTGGCTTCATGGCTCCCTCTGCAGGTCCCCTCTCCCCCAAGAGTCCCTCGAAGCCCTTGCAGGTTGTACTCACCGGAAGGCCAGGAGGACCAGGAAGCCCGGGCTGGCCCTGCAGAAGCAACGAGAAAGGCTCAGAGGCTGGGGTTTCCCCGGCTCCTACTTCCTCTCTACAGCCACTCCCAAACGCTGGCCCTAGATTGCCCACGCTGAGGCCCCAGCAGGCCCCTTACCTTGACTCCAGGGATCCCCATGGGGCCAGGCTCCCCCTTGGCTCCAGTTAAACCCTGGGGAAGAATGAAAATGTAGGATCAATGAGGGCCAACCTGCTCCCTGACCCACAGAGCAGGGCAGGTTCAAGGGTCCCTCCTGGGTGGGCCGAGGCTCCTTTTTGCCACACCTCATGAAGGCCTAGGAACCTCCACACCTTTCTTTCCTTTTCCCCAGTTCCCATAGTAACCCTAGGAGGCAGGCAGAACAATTCCCTTCTTTTGAAAGATGAGAAACCAAAGCCCAAAGATTTGGCTTTATGCCAGACCCAGGCTTCATGCCTCCGGGTTCAGGAGTCTAGAAGACCTAGCCATGGGTCAAGATTGGTCATTTGCTTGATGTCCTACCTTGACAACTTTTTCATTTTCTTTTCTTTTCTTTCCTTTCTCTTTTCTTTTTCTTTCTTTTTTTTTTCAATTGAGACACAGTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCCCCGCTTCCTGGGTTCAAATGATTCTTGTGCCCCAGCCTCCCAAGTAGCTAGGACCAGGGGCATGCGCCACCACGCTTGGGTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAGCTCCTGACCTCAAGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACGCCAGGCCATTGGCAACTTTTTCTGAGCCTTAGTTTCTCATCTGGGT
|
CCCCAACAGGTCTATTAATTGGGAAAAAAAAAAAAAAAGAGTTAAGAGAACTGGGATCGAGACCAAATCCCATTAGCCCCATGGCTGATTTGCTGGAATCTCATTGTCTGGCCCCAGTGACCATGGGACTGGATCCCAGGGCTTCGCCTAAAGTCTGAATTTGGGCTGACTGGGCTCTTGGCACAGATGGTCCTCCCCAGCAGGTCACCCACTTGGGCAGACACACACACACTCACTCACACACACATACATACACTCACAGTCACACACACACACTCAGAGATATCCTCACACACTCACATACACATACTACACACACTCACAGACAGCCTCACACATACACACTGTACACATACACTCATATACACACAGTCTACACACACACACACTACACACTCACACACACTACACATTCACACTCACGCACACACTCATGCACTCTCACACACACAGCCTTAGGGGGTGCCTTGTCCTGCCCAGTACTCCCCAGGGGTCCTGACTGAACAATGGGTGCCTGAGGACTCACCTCGTCACCCTTCTCCCCAGCTCGGCCTGGCGGTCCCCTAGGACCTTCCTCACCCTGGCAAGAAAGACAAGCAGGAATCCAGGTCACACAGGCTCAGGGGGAGCCATGCCCACTCTGTGGCTGTAGCTGTAGGAGCTCCAGCCTCAGGGGTAGGGGAGCAAAAAGAGGCTTACCGGTGGCCCAGTGGCACCGATAGCGCCCACCATGCCTTTATATCCATGAGGGCCCTGGGGAGAGGAAAGGGTTGCAGGTCAGTCCTGGCTGAACTCCAGGGGCCAGAAGGCAGCTCCTGGAAGCTCTTGTAGAACACCCCAAGATTCACTTACCGTCTCTCCCTTGGGCCCTGCCATGCCTGGGTAGCCCCTGATGCCCTGGGGACCCTGTTGAGAAAGAAAAATGACAGCAATGGCAATTGCAAGGCCCACTTCATGATACCTTGTCTGATGCCCACCTTCAATCTTACAGTGCCCTTTTGAGGTAGGCAGCAGAGTCTCTGTCTCATGGATGGGACATGGAGGTTCAGAGATGAGGAGGGACTCACTGCATTACTCAAAGGGACAGTGGCAGACCTGGACCTCAGCCTGGGCTTCTTGCTGACAGCTTTGGTTCCTGTCCCTCATTCCTGACAATTTCAGCCTCCATCTCCCCATCCAGAGATGCTCCCAGCTAGACACAGGTGTCTCTTTTACAAGCTAGAGGCCTGAGCAGGGGAATGACTCCATGAAGGGCTCCTGGGGTGAGGGAGAAGAGGGCCACTGAGGCAAGGTGTTCCTTACCGGTGGTCCAGGGATGCCTTGCTCTCCAGAGGCACCCACATCTCCCTTGGGACCCTAAAGGGCAGGGATGAGCTGTCAGACAGGCAGGCAGATGGAAAGACACATATACAGACAAGCAAAGATACCACCTCTTTTCCCCAGCACAAGCAGACGGGAGGGACTACTACGAACCCTACAGTCCTGTGTTACAGATAGAGAAAAGCCAAGCAAGGAGACATGACCAGAGACATGCCGACCTGGAGCACAGGCCTCCAGCCCCCGGCTCAAGGCTCTGTCCCCAGAACCCACAGGGGAAGGGGAAGGGACGAAGAAGGGGACAGAGCCCTGTAGGACCATCTCCACGTATCCCTGACCCACAGCCCTCAGCCCTTGCACTCACCGGCTTCCCCTGGTGGCCAGGATCACCCAGAATCCCGCGTTTGCCCGCATGCCCCTGAAGGGAAGGAGAGAGCTCAATACGAGGTCCCCTCCTGTCACCTGCACCACCCTCCCAAGATTCAGGCCAGGAGCTCTCACCTTCACTCCCTGCAGCCCTGGGGGACCTTTCATTCCGGGTGGACAGTTGGTTGGACACTGGAAACAGAAAATCCCACAGGGTCCTGTGATCAGCTGGGCAGTGCGCCCCCATCTCTCCAAGCCCCGTGCTCTCCTCCGCCTCACCTGGTGGAACCCCTGCACTGCAGCCCCTCCCCATCTCTCCAGACACCCCCATCTCCGTGGCCCCGCCTCCCCATCTCTGTGGCCCCGCCCCCTGTGTTAGCCCCGCCCCAGACCTCGTCTCTCACCAGGAAATCCGCACTGCCTTCCAGACCCTGGATGGTTCCCGGGCGACCCTGAGAGGAGACATGAAGATGGAGCTTGGCCTGACCCTTTCCCGCCGCAGGCTTGCTCAAAGACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCCTCCTCCAGGTCCTGCCTCTGCCCTCTCCACCCTGTCTTCCCGGTCACTTTGTGAGATCCACCATCTTGGGAGATGAAGGCCTGATTGACAGGGGATGGGGCCAGCGGCGTCCCTAAAAGACCTAGTGCCGGGTGGGCTCATAGGAGGGGTTTCTGCCCCAGACCTGGAGGAGTTTCCCAGTGGCCAGGAGCAGGCCCAGGAACTTCCAGAAAGACCACCCAGCTTGCCAGCTTGGAGATAGAAGGCAGGAGGCAGTGAACAGAGGGTGGCTGAGGCTCACCTTGGGGCCTCGGATTCCAATCTCACCAGGGAGGCCAACAGGTCCAGGAGGCCCCTGGGGAGCAGAGAGTTGATGGTCAGGATGCCTCAGAGGGTCAGATACCCTGGGCACAAAGGTAGAGACAGGCACCCAAAGCCCGTTTCTCCACTTTTACTTTTTTTTTTTTTTTGCCAACCCCAGAGAGACTGACAGACTGAGGCTTTAAGGACCAGAGAATTGCAGAGCCAGTGGACAGGCCCAGAGTGGGCTGGCCCTGGGTCTCTGGCAGGTCCACTTATTCCTGACACTATCACAGCAAGCTGGCTCCTTCCCATGGTGGCCATTCCCTCGAAGCCTTTCTGTTGTCCCCTCCTTCCCTGGGAGTTCTGGGGATCCTGCCCCATCCCTGAGGACTTACAGGAGGTCCAGCAAAACCAGGGCCCTGGAACAGAAAGAAAGAAAATTGGCTTCATGGCTCCCTCTGCAGGTCCCCTCTCCCCCAAGAGTCCCTCGAAGCCCTTGCAGGTTGTACTCACCGGAAGGCCAGGAGGACCAGGAAGCCCGGGCTGGCCCTGCAGAAGCAACGAGAAAGGCTCAGAGGCTGGGGTTTCCCCGGCTCCTACTTCCTCTCTACAGCCACTCCCAAACGCTGGCCCTAGATTGCCCACGCTGAGGCCCCAGCAGGCCCCTTACCTTGACTCCAGGGATCCCCATGGGGCCAGGCTCCCCCTTGGCTCCAGTTAAACCCTGGGGAAGAATGAAAATGTAGGATCAATGAGGGCCAACCTGCTCCCTGACCCACAGAGCAGGGCAGGTTCAAGGGTCCCTCCTGGGTGGGCCGAGGCTCCTTTTTGCCACACCTCATGAAGGCCTAGGAACCTCCACACCTTTCTTTCCTTTTCCCCAGTTCCCATAGTAACCCTAGGAGGCAGGCAGAACAATTCCCTTCTTTTGAAAGATGAGAAACCAAAGCCCAAAGATTTGGCTTTATGCCAGACCCAGGCTTCATGCCTCCGGGTTCAGGAGTCTAGAAGACCTAGCCATGGGTCAAGATTGGTCATTTGCTTGATGTCCTACCTTGACAACTTTTTCATTTTCTTTTCTTTTCTTTCCTTTCTCTTTTCTTTTTCTTTCTTTTTTTTTTCAATTGAGACACAGTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCCCCGCTTCCTGGGTTCAAATGATTCTTGTGCCCCAGCCTCCCAAGTAGCTAGGACCAGGGGCATGCGCCACCACGCTTGGGTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAGCTCCTGACCTCAAGTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACGCCAGGCCATTGGCAACTTTTTCTGAGCCTTAGTTTCTCATCTGGGTN
|
benign
| 7,182 |
Variant at chromosome position 40819438, chromosome 1, gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_2A', 'Nonsyndromic_genetic_hearing_loss', 'likely other unspecified diseases']
|
TGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAG
|
TGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGNNN
|
pathogenic
| 7,242 |
Is chromosome 1, position 40822298, gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
ACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCGTTTTACAGGTGAAGAAACTGAGGTCCTGAAGCTTTACTTAATTTGTCCTCACTAATAAGGGGCAGAGCTGGGATTGGAAACCCATGTCTGCCTGACAACAAAACTCCAGCTCTTAACCTCTATGCTCTATGGCCCCTGGCTCTGACATTGATCTGCTTTGTCCCCTCGGGGAAGTCGTTTCTCCCTAGGCCTTACTTTCTTGGCTGCCCCTGTCAGTGGCTGTGGAATTGGAACTGGCCTCTGGCTCTGGGTAACCCACAACTGGACCAAGGACTGGGTTCTTTCAGGGGAGAGGGCTGGTGGGGACTGAGAGGCCTCACTGATGCCCCATCCCCCACGTCCCCCATACCACCAGGCTGCCTGGCGCCTGTACTCCACCGATATGAGCCGGGCCTACCTGACAGCCACCTGGTACTACTATGACAGTATCCTCCCATCCTTCAGGTAGGTCCTGCTGGGGGTGGGGGTGGGTGGGGGGCTGGCAGCAATGCCCTTTGAGGACAAGTGGCTGAGACTCAACCCTGGAGGGTGGAAAGGGGGTGATGGCTCCCAGGGGAGCACCCTGGGCTGGCTCTGCAGATCCTATGTAATTCAGAGCCTGGAGTGTCCTTTATTCCACTCTGCTATGCCCAGGGAAGAGGTGGATACTGGACATAGGGCATTGGTGAAGCCCTGCCCCATGGCTGAACCCCGGCCCTGGAGTGCTGGCAGTGTGCATGCTCACCCATAGGTGATGCCATCTAGGGCAGTGATACAGCCAGCTCGTCTCCCCTCAGTCCTGAATGGGGGACAGAGTTAGTGGATATTGCAGCTGGTTGGAGAAAGTGTGGGATGGGCAGAAACATGTGTTCCAGACTTAGGTGCATGCTCCTACCCTGAACCCCCATGTAGGAATATGTGCCCACTTTTACTGGGCCAGTCAGCAGCCTCAGGGCCCAGAAGTGGGTCTGCCCCACTGGCCCGGGCCAGGCTAAGACTGCATGGGGGTGGCACCAGGAGAGGGATTATTAATAGCATCACAAAGGTGCGTGTGGCCAGGTGCCTGGCTAGGCCCTCAGGCAGGAATGAAAACCATGGAGCCCAGCTCGGTCCCACGGGCAGGCGGGCATCAAGCTTGTGGCTGGGGCAGGATGCTGTGCTCAGCGCTTCTGCGGGTGCCTTTTTTGCCTCATTAGTTCTCCAGGAGAAGCTGTTGCGCGATTCCACTCGCCTCTGCACCTGGCTTCCCCATCCCTGCGCCCTCCCAGCCCTAGGGGCTTCCCAGGGGAGAAGCAGGAGAGAAGGGGCCGGGAAGAGGGGCTCCCAGCATCACACTGGTGCCCCCACATCTCTCCACCCGGCAGAGGCAAGCTCCTACCTCAGAGTGGGAAGGTGACTAGATTAGAAGAGAGGCCTTTTGTTCAAGGCTGGGCATTCGAGAGTGGGGCAGGGCTGATTTGTAAGAAATACAATGTGTATGAGGGAAGATCTGGGGGTGGGGGTGGTCAGATGGTCTAGGACCTCTGCCCAGAGGAACAGAGCCTAGTCTGGAGATTCTGGATCCACTGGGCATCTGCTCCCTGGACCTTAGTTTGGTCATCCATGCAATGGGAAGGCAGGCAGGAGAGAGGGAAGATACCCTCCTTGGCTCATGGCAGCAGAAAATGGCCTGGAGAGTTAGGAAGAAGCCACGGTCCCGAATCTAGTCTTCAAAAACCCAGTGGCAAGAGTGAGTGCTGGAGGGGAAGGAAGCTGGGCTAGCCACCCTGTCACACCGCCCTCCTCACCTCCATCTCCCCTTAAAATCCAGAGTCAGATCTGGAGGGAAAGGATGTCAGGGCCACTGCTGGCCTCTCTGAGGAGGCACGGCACGTTCAGGCAGTCAGCTTGATGGGCTGAGAGTAAGCTCCTTGCACGGCTGCCCTTGAGCTGTGCCAGCCTTCACATCCATGCTTGGCATCCCTGGGAACTGGGGGTAGAAAGGGAGTGGGGAAGGCCAGTCTCCCACTGTCCACCCTGTCCTATTCTGGCCGGGCTGTCAGTGAACACCTCTAGAGCAGCAGGACCTGGCAAGATCTGAGCTCAGGAGCTCTGTGCCCACTGGGTGAGGGGGGTGGTGCCATGGCCCTGCCTGCCACTGATGGTGCCCTCTCCTGCAGAGAGCTGGCCCTCTTGTTTGAGCACGTGCAACGGGCCCGCAATGGGGGCCTACGGCCCCTGGAGGTGCGGCGGGCGCCGGTACCCGACGGAGCACCCTCCCGTTACCCGCCCGTTGCCACCTGCCACCGGCCGGGCAGCACCTCCTTCTGCCCTGGGGAAAGGTAGGGGCCCCGTGGGGCTGCCACCTCCTCTTGCTTCTCCTCCTCTTCTTCCATTCTCTGTCTTCATCCTCTCTCAGACCTGCCTTC
|
ACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCGTTTTACAGGTGAAGAAACTGAGGTCCTGAAGCTTTACTTAATTTGTCCTCACTAATAAGGGGCAGAGCTGGGATTGGAAACCCATGTCTGCCTGACAACAAAACTCCAGCTCTTAACCTCTATGCTCTATGGCCCCTGGCTCTGACATTGATCTGCTTTGTCCCCTCGGGGAAGTCGTTTCTCCCTAGGCCTTACTTTCTTGGCTGCCCCTGTCAGTGGCTGTGGAATTGGAACTGGCCTCTGGCTCTGGGTAACCCACAACTGGACCAAGGACTGGGTTCTTTCAGGGGAGAGGGCTGGTGGGGACTGAGAGGCCTCACTGATGCCCCATCCCCCACGTCCCCCCATACCACCAGGCTGCCTGGCGCCTGTACTCCACCGATATGAGCCGGGCCTACCTGACAGCCACCTGGTACTACTATGACAGTATCCTCCCATCCTTCAGGTAGGTCCTGCTGGGGGTGGGGGTGGGTGGGGGGCTGGCAGCAATGCCCTTTGAGGACAAGTGGCTGAGACTCAACCCTGGAGGGTGGAAAGGGGGTGATGGCTCCCAGGGGAGCACCCTGGGCTGGCTCTGCAGATCCTATGTAATTCAGAGCCTGGAGTGTCCTTTATTCCACTCTGCTATGCCCAGGGAAGAGGTGGATACTGGACATAGGGCATTGGTGAAGCCCTGCCCCATGGCTGAACCCCGGCCCTGGAGTGCTGGCAGTGTGCATGCTCACCCATAGGTGATGCCATCTAGGGCAGTGATACAGCCAGCTCGTCTCCCCTCAGTCCTGAATGGGGGACAGAGTTAGTGGATATTGCAGCTGGTTGGAGAAAGTGTGGGATGGGCAGAAACATGTGTTCCAGACTTAGGTGCATGCTCCTACCCTGAACCCCCATGTAGGAATATGTGCCCACTTTTACTGGGCCAGTCAGCAGCCTCAGGGCCCAGAAGTGGGTCTGCCCCACTGGCCCGGGCCAGGCTAAGACTGCATGGGGGTGGCACCAGGAGAGGGATTATTAATAGCATCACAAAGGTGCGTGTGGCCAGGTGCCTGGCTAGGCCCTCAGGCAGGAATGAAAACCATGGAGCCCAGCTCGGTCCCACGGGCAGGCGGGCATCAAGCTTGTGGCTGGGGCAGGATGCTGTGCTCAGCGCTTCTGCGGGTGCCTTTTTTGCCTCATTAGTTCTCCAGGAGAAGCTGTTGCGCGATTCCACTCGCCTCTGCACCTGGCTTCCCCATCCCTGCGCCCTCCCAGCCCTAGGGGCTTCCCAGGGGAGAAGCAGGAGAGAAGGGGCCGGGAAGAGGGGCTCCCAGCATCACACTGGTGCCCCCACATCTCTCCACCCGGCAGAGGCAAGCTCCTACCTCAGAGTGGGAAGGTGACTAGATTAGAAGAGAGGCCTTTTGTTCAAGGCTGGGCATTCGAGAGTGGGGCAGGGCTGATTTGTAAGAAATACAATGTGTATGAGGGAAGATCTGGGGGTGGGGGTGGTCAGATGGTCTAGGACCTCTGCCCAGAGGAACAGAGCCTAGTCTGGAGATTCTGGATCCACTGGGCATCTGCTCCCTGGACCTTAGTTTGGTCATCCATGCAATGGGAAGGCAGGCAGGAGAGAGGGAAGATACCCTCCTTGGCTCATGGCAGCAGAAAATGGCCTGGAGAGTTAGGAAGAAGCCACGGTCCCGAATCTAGTCTTCAAAAACCCAGTGGCAAGAGTGAGTGCTGGAGGGGAAGGAAGCTGGGCTAGCCACCCTGTCACACCGCCCTCCTCACCTCCATCTCCCCTTAAAATCCAGAGTCAGATCTGGAGGGAAAGGATGTCAGGGCCACTGCTGGCCTCTCTGAGGAGGCACGGCACGTTCAGGCAGTCAGCTTGATGGGCTGAGAGTAAGCTCCTTGCACGGCTGCCCTTGAGCTGTGCCAGCCTTCACATCCATGCTTGGCATCCCTGGGAACTGGGGGTAGAAAGGGAGTGGGGAAGGCCAGTCTCCCACTGTCCACCCTGTCCTATTCTGGCCGGGCTGTCAGTGAACACCTCTAGAGCAGCAGGACCTGGCAAGATCTGAGCTCAGGAGCTCTGTGCCCACTGGGTGAGGGGGGTGGTGCCATGGCCCTGCCTGCCACTGATGGTGCCCTCTCCTGCAGAGAGCTGGCCCTCTTGTTTGAGCACGTGCAACGGGCCCGCAATGGGGGCCTACGGCCCCTGGAGGTGCGGCGGGCGCCGGTACCCGACGGAGCACCCTCCCGTTACCCGCCCGTTGCCACCTGCCACCGGCCGGGCAGCACCTCCTTCTGCCCTGGGGAAAGGTAGGGGCCCCGTGGGGCTGCCACCTCCTCTTGCTTCTCCTCCTCTTCTTCCATTCTCTGTCTTCATCCTCTCTCAGACCTGCCTT
|
benign
| 7,260 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 41001009, gene CTPS1 (CTP synthase 1): what disease(s) if pathogenic?
|
benign
|
ATCCACTTGGAGTTAGTCTGTGGCTGCCATGTGTTTGTCAGGTGGCAGAGGATGAGAGATGGATGAAAAGGCAACGGTCTCCGCCTTTAAGGAATATTGAGTCTCTTAGGAAGGAAGGAGCACATAGGAGAGGCTGAACCTGCTGTGGCAGACACATGAGGAAGGCAGACTTCCTCATGGAGGGACACCAGGTTGGGTTGGGTAGGATGGAGAAGGCTCGGAAGGGGCATTCCTGTTAGAATAGATAGAGCACGTCCAAGGGCTTGGAGATGTGGAGCAGTTGGAAACACTGTGGATGGAAATTGTGAATTGGAGGCTGTCTGGAGACAGGCTGGTGAGGGCCTGCCCACAATTCCATGAACTGGGCCAAATCTGGGTCTTACCCTGAGGTTCAGGAAACTAACTGCAGGGTTTAGGTAGGAGATTGTAGAAAAGTGGTGAACACCCTAATTTAAAAAGTGGGCACGAGATTTGAACAGACACTTCCAAAAAAAGATGTAGGTGATAAACACGAAAAGGTGCTCAACACCTCTAGTTAGGGAAATCAGTGCAGATGAAGTCACAATGAGATAGTGACACAAACCCCCTAGAGCGGCTGAGTGTTAGAGAGGCTGTGGAGCTCTTACCTTGCTGCCGGGAGTGTAAAATGGCACCACCACACTAGAAAACAGTCTGGTAGTTTCTTATCAAGGTAGAGACGTGTGATCCAATAAGTCCATTCCCAGATACTCACTTGAGAGACTTGAAAACGTCCACAAAAAAAGATTTTTATTCAAATGGACAAATTATTCGTAATAGCTGAAATCTCGAAACAACCCAAATATTTATAGCCTGTCAATGGATCAATTTGTAATGGTTTATTTATATAGTAGAAACCACTCAGCAATGAAAAGGAAGAAACCAGGCTGAACACTGACTGGCTCAAGCCCATAATCCCAACACTTAGGGAGGCTCTGCTGTGGGAGGATCGCCTAAGACCAGTAGTTCGAGAGCAGCCTGGTCAACATAGCGAGACCCCCGTCTCTGCAAAAAAAAGTTAAAAAAGAAAAGGAACAAACAACTGATAAACACAGCAACATGGATGAACTTCAAAAACACTAAGCAAAAGAAGCCAGACACAAAAGGTTATATACTATTTGGCTCCATTTATATGATGTTCTATAAGAGGCAAAACGAATCTGTGATGATAGAAATTGGATCTGAGGTTGTTTGGGGTAGGAGGTAGAGGGGCACATTCTGGGAAGATGGTAACTTATGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCCCAGTTCACTGCAACCTCTGCCTTCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCTTGGGTAGCTGGGACTACAGGTGCATGCCACCACACCCAGCTATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCCCGGCTCATTCTATATCTTGGTGTGTATGTTTGACAAAACTCTTCAAAGTATGCACTTAAAATGCTTGTATTTTATTGTATGTGAATTATGCTTCAATATGGTAGAAAGAAAAAGAAAAAACCCACAAAAGCTGGGCGGAAGATGGGCTGAGGAGGCTGTCATTGAACAGAAAGCCCTCTAGAGTCTGCTGCAGAGGCTTAGCTGAGACCCGATCCTGAACACAGTAGAGTGCAGAAAGAGAGAGATTTGGGAATTTAATGATTTTGAAGGAAACTGTTGTATTTTAAAACCTCATATTTAAAAAATGTTTAAGTTATTAAATATATTAAGTTGATCACTTTAAAGCCAGTATTAAGATGATCACTTTAAAGCCAGAATCAAGAAAGACAACTTTGATAAAATGATAATATTATTTAAAAATTAAGAACGCACAGCCTGGGGTCACGAGCCTGCTTTTCTCCCCTGTCTGAATAACATCCAGTACATAGATTCTGCGGACTTGGAGCCCATCACCTCGCAAGAAGAGCCCGTGCGCTACCACGAAGCTTGGCAGAAGCTCTGTAGTGCTCAGTGAGTAGAGTTCGCTGCCTTGGGTTTCCAGAGTTCTTTTGGTTTGTTTTAATGAAAAAGTCCTCTTGTTTTCATGTGCCAGTAGTAGGTAATTGACTTGTTAAAATATTTTTTAATTGTTGAAAAGACTACATGCCATCTGATTTAATCCTTAAAAAATGCAGCTTGTCAATATCATTGGATCTGAAAAGCTGCTCTGATTTTGATATTGTTTGCCATATGCATCTATTGATGAGGCTCATTTAAGGATTTTTCATCCAGAACATTTGATGAGTACCCATCAGTAGAGTCTCATCAGTTGTTTTGGCAGCTGTTATTTATAATAGTAAAACATTAGCAAGAATTTCTGGTTCACTAGAACAGTTGAATATTACGGAGGTGTACACCTTCTTCTGAGTGTCTTGGTCAGTACGGCACACAGAGCTGATGAAGAAAGGCCCCCTTAGGGGAGCATTTTAAGCCAAGAGGTAAGATAAATTGTTAATATTAATATATGTATTTAAAATTTTGGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAAAACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCCAGGCAACATAGGGAGACCCTGTTTCTACAACAAAAACAACAAAACCAGCTGGGTGTGGTCCCAGCTCCTTGGGAGATCAAGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTAACAGTGTGAGACCCTGTCTCAAGAAAAAAAAATTGTGAACAACTCAGTACCAAAGATAGTGCAGTGGCAGTATTACAATTATGTATACTATCTTTTTCACTTGCAATAAGCATGTTCTTAAGTTACTAAGAAAAGTCCATAGTTTCATATGCAGTTTCTAAGTTGATAGTGTTTACATACAATTCATTGTCACAGTAGCACAATGTATGGGGTTAATTCATGGCTTCAGTGTCTTGGTAATGGCCCGTTAGGCGATTATTGCAAGTTGGACTGGTAGAAAAGGGGAATTGCCTTTGTGGTTTGTTCTTTTGTGCAGTGGAGTGCTGGTTCCAGGAGGATTTGGTGTTCGAGGAACAGAAGGAAAAATCCAAGCAATTGCCTGGGCTCGGAATCAGAAAAAGCCTTTTTTGGGTAAGGAGCTCTGCAGTGCAGTCTTCACTTAAGAGTAGGAAAGAGTGGGGAACGGTGCCACGTGGGAGCCTATGAACAAAGTGGGGGGATTACTGAAACATGCTGTCTTTGTGGATAGGAGCTCAAGTAGAAGCCTTCATGTTTTCTCTTTAGAGACAAATTCAGTCTTGGAAAGCTTATTTATGCTTATGAGCTACATGTAGATGTCGTGGAATTTTGAGAGAATGAATTGTGAATTCCTGTCCATTTAATGAACCCAGCTGTTTGTAGCACACGTGAGGTTGAGTTTTATATCTGCTCACTTGGCACAACAGCTGACTGTAATTGGACAAAATGATTTTGCATGCCTCCTGGTGCTGTACATTTTAGTAATTTTCAACTTGAACAATTATAAATAAAAACTTAATGAGAGAGGGTAAGAAAACTTGAATTTTAAAGTACTGAGGCTAGGCACGGTGGTTCACACCTGTAAACCCAACACTTGTGGAGGCTGAGGCAGGAGGGTTGCTGGATCCCAGAAATTTGAGGCTGTAGTGAGCCAAGATCTCTCCACTGCACTCCAGAGTGGGCAACAGCAAGACCCTGTCTGGGGGGAAAAAAGTACTGAATAGAATATCACTTACTTCTAAAATCGGATAACTTTGCAAATCTAGAATTTTCATCTACTTTACATGCAGTTTTTGAAATCTAATACAAGTAAAGTGTAACAGCAGAGAGTACTTGTTCATAGCAGGAAGTTATGAGTTTGCAATTATAATTCTCCAAATAAAGGACACAAAGGCCATTGCAGAGGCTGCTGGGA
|
ATCCACTTGGAGTTAGTCTGTGGCTGCCATGTGTTTGTCAGGTGGCAGAGGATGAGAGATGGATGAAAAGGCAACGGTCTCCGCCTTTAAGGAATATTGAGTCTCTTAGGAAGGAAGGAGCACATAGGAGAGGCTGAACCTGCTGTGGCAGACACATGAGGAAGGCAGACTTCCTCATGGAGGGACACCAGGTTGGGTTGGGTAGGATGGAGAAGGCTCGGAAGGGGCATTCCTGTTAGAATAGATAGAGCACGTCCAAGGGCTTGGAGATGTGGAGCAGTTGGAAACACTGTGGATGGAAATTGTGAATTGGAGGCTGTCTGGAGACAGGCTGGTGAGGGCCTGCCCACAATTCCATGAACTGGGCCAAATCTGGGTCTTACCCTGAGGTTCAGGAAACTAACTGCAGGGTTTAGGTAGGAGATTGTAGAAAAGTGGTGAACACCCTAATTTAAAAAGTGGGCACGAGATTTGAACAGACACTTCCAAAAAAAGATGTAGGTGATAAACACGAAAAGGTGCTCAACACCTCTAGTTAGGGAAATCAGTGCAGATGAAGTCACAATGAGATAGTGACACAAACCCCCTAGAGCGGCTGAGTGTTAGAGAGGCTGTGGAGCTCTTACCTTGCTGCCGGGAGTGTAAAATGGCACCACCACACTAGAAAACAGTCTGGTAGTTTCTTATCAAGGTAGAGACGTGTGATCCAATAAGTCCATTCCCAGATACTCACTTGAGAGACTTGAAAACGTCCACAAAAAAAGATTTTTATTCAAATGGACAAATTATTCGTAATAGCTGAAATCTCGAAACAACCCAAATATTTATAGCCTGTCAATGGATCAATTTGTAATGGTTTATTTATATAGTAGAAACCACTCAGCAATGAAAAGGAAGAAACCAGGCTGAACACTGACTGGCTCAAGCCCATAATCCCAACACTTAGGGAGGCTCTGCTGTGGGAGGATCGCCTAAGACCAGTAGTTCGAGAGCAGCCTGGTCAACATAGCGAGACCCCCGTCTCTGCAAAAAAAAGTTAAAAAAGAAAAGGAACAAACAACTGATAAACACAGCAACATGGATGAACTTCAAAAACACTAAGCAAAAGAAGCCAGACACAAAAGGTTATATACTATTTGGCTCCATTTATATGATGTTCTATAAGAGGCAAAACGAATCTGTGATGATAGAAATTGGATCTGAGGTTGTTTGGGGTAGGAGGTAGAGGGGCACATTCTGGGAAGATGGTAACTTATGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCCCAGTTCACTGCAACCTCTGCCTTCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCTTGGGTAGCTGGGACTACAGGTGCATGCCACCACACCCAGCTATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCCCGGCTCATTCTATATCTTGGTGTGTATGTTTGACAAAACTCTTCAAAGTATGCACTTAAAATGCTTGTATTTTATTGTATGTGAATTATGCTTCAATATGGTAGAAAGAAAAAGAAAAAACCCACAAAAGCTGGGCGGAAGATGGGCTGAGGAGGCTGTCATTGAACAGAAAGCCCTCTAGAGTCTGCTGCAGAGGCTTAGCTGAGACCCGATCCTGAACACAGTAGAGTGCAGAAAGAGAGAGATTTGGGAATTTAATGATTTTGAAGGAAACTGTTGTATTTTAAAACCTCATATTTAAAAAATGTTTAAGTTATTAAATATATTAAGTTGATCACTTTAAAGCCAGTATTAAGATGATCACTTTAAAGCCAGAATCAAGAAAGACAACTTTGATAAAATGATAATATTATTTAAAAATTAAGAACGCACAGCCTGGGGTCACGAGCCTGCTTTTCTCCCGTCTGAATAACATCCAGTACATAGATTCTGCGGACTTGGAGCCCATCACCTCGCAAGAAGAGCCCGTGCGCTACCACGAAGCTTGGCAGAAGCTCTGTAGTGCTCAGTGAGTAGAGTTCGCTGCCTTGGGTTTCCAGAGTTCTTTTGGTTTGTTTTAATGAAAAAGTCCTCTTGTTTTCATGTGCCAGTAGTAGGTAATTGACTTGTTAAAATATTTTTTAATTGTTGAAAAGACTACATGCCATCTGATTTAATCCTTAAAAAATGCAGCTTGTCAATATCATTGGATCTGAAAAGCTGCTCTGATTTTGATATTGTTTGCCATATGCATCTATTGATGAGGCTCATTTAAGGATTTTTCATCCAGAACATTTGATGAGTACCCATCAGTAGAGTCTCATCAGTTGTTTTGGCAGCTGTTATTTATAATAGTAAAACATTAGCAAGAATTTCTGGTTCACTAGAACAGTTGAATATTACGGAGGTGTACACCTTCTTCTGAGTGTCTTGGTCAGTACGGCACACAGAGCTGATGAAGAAAGGCCCCCTTAGGGGAGCATTTTAAGCCAAGAGGTAAGATAAATTGTTAATATTAATATATGTATTTAAAATTTTGGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAAAACTTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCCAGGCAACATAGGGAGACCCTGTTTCTACAACAAAAACAACAAAACCAGCTGGGTGTGGTCCCAGCTCCTTGGGAGATCAAGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTAACAGTGTGAGACCCTGTCTCAAGAAAAAAAAATTGTGAACAACTCAGTACCAAAGATAGTGCAGTGGCAGTATTACAATTATGTATACTATCTTTTTCACTTGCAATAAGCATGTTCTTAAGTTACTAAGAAAAGTCCATAGTTTCATATGCAGTTTCTAAGTTGATAGTGTTTACATACAATTCATTGTCACAGTAGCACAATGTATGGGGTTAATTCATGGCTTCAGTGTCTTGGTAATGGCCCGTTAGGCGATTATTGCAAGTTGGACTGGTAGAAAAGGGGAATTGCCTTTGTGGTTTGTTCTTTTGTGCAGTGGAGTGCTGGTTCCAGGAGGATTTGGTGTTCGAGGAACAGAAGGAAAAATCCAAGCAATTGCCTGGGCTCGGAATCAGAAAAAGCCTTTTTTGGGTAAGGAGCTCTGCAGTGCAGTCTTCACTTAAGAGTAGGAAAGAGTGGGGAACGGTGCCACGTGGGAGCCTATGAACAAAGTGGGGGGATTACTGAAACATGCTGTCTTTGTGGATAGGAGCTCAAGTAGAAGCCTTCATGTTTTCTCTTTAGAGACAAATTCAGTCTTGGAAAGCTTATTTATGCTTATGAGCTACATGTAGATGTCGTGGAATTTTGAGAGAATGAATTGTGAATTCCTGTCCATTTAATGAACCCAGCTGTTTGTAGCACACGTGAGGTTGAGTTTTATATCTGCTCACTTGGCACAACAGCTGACTGTAATTGGACAAAATGATTTTGCATGCCTCCTGGTGCTGTACATTTTAGTAATTTTCAACTTGAACAATTATAAATAAAAACTTAATGAGAGAGGGTAAGAAAACTTGAATTTTAAAGTACTGAGGCTAGGCACGGTGGTTCACACCTGTAAACCCAACACTTGTGGAGGCTGAGGCAGGAGGGTTGCTGGATCCCAGAAATTTGAGGCTGTAGTGAGCCAAGATCTCTCCACTGCACTCCAGAGTGGGCAACAGCAAGACCCTGTCTGGGGGGAAAAAAGTACTGAATAGAATATCACTTACTTCTAAAATCGGATAACTTTGCAAATCTAGAATTTTCATCTACTTTACATGCAGTTTTTGAAATCTAATACAAGTAAAGTGTAACAGCAGAGAGTACTTGTTCATAGCAGGAAGTTATGAGTTTGCAATTATAATTCTCCAAATAAAGGACACAAAGGCCATTGCAGAGGCTGCTGGGANN
|
benign
| 7,298 |
Clinical significance of chromosome 1, position 42738274, gene CLDN19 (claudin 19): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Renal_hypomagnesemia_5_with_ocular_involvement']
|
CAGGGTGACCCGGCCTGGGGTAGGCGTGAAGGCTAGAGGCTGGGCCTCCAGCTCCTGCTCTGAGCAACCTTGGGCTCATTTCCTGATCTGGCCAGTGGAGGGGGCATGGGAGGGCCTGAGAGGTCTGCACGGGAGGAGTGGGGCAATCCCTGCCATGTTTTTTCCCAGTCACATTCTGGCCCACAGAACTCCCAGCCAAGACTGCTCCCGCTGCCCTCTGGAGAAGGCCAGACCCTTCCACCTGGCACTCTGGGCTCTCCACACCCAGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGGGCCTGGCAGCCCAAGTGGCATTGGGGACTGTTGAAGGGATCGGGGGCCGAGTCCTATCCTGACATGCCTGAGCTGGACCTTGCTTGGCAGACTTTGTGGCTGCAGCCACCACCCAGGGAACAAACCTTGTACCTGAGATCTCCTCCCTCCCCTTGCCTCTCAACACCTCTGCCTCCTCCAGGCATCCCTCCCGATTGCAAAAGCCCAGACATCTTTTCTCATCCTCTCTCCACCCCAAGGCCCAAAGCCCATTGGGATGTCTAGGGTTAAGACTGTCCCATTCTCTGCTCCTGGCTAGGCTGAGAAGTGAGGGAGGAGCCAAGGTGGGCCCAGGCCCTTTGCAGAGCATCCCCTTCAGTTCCCATGCCCACAGTCTTACAAGTCCTGGTTATCTCCTGAATATCAGCCTGCTTTCCACTGCTCCCTCCCTGTTGCCCCAAACTCTCTGCTCAGACCTTTGGGACAGCCGCCTTCCTGGTGTCACTCCCTCCCCACCATTCTGCACATCACAGCCAGAAGGACTGCCGCTGCCTCCACCCAAATGAGGAACAAAATCTTCCTGTGGTTGCAAGGCCCTCCACGATCTGCCCTTATTCTCAAGTTTCTTCCTGGCCCAGAATAACTGCTGCCTCCTGCAGGAAGTCATCTCAGCCCTGCTGCCACCAGCAGAAATGAAAACAGCTCAGGCTTGCTGGGTACTGTCCAGGGCCCGGGCACGGTGCCACACCCTCACCTGCATCCTGCTGGATCCTGACAACCATGTGTGAACTGGTGCTCAGGTTCTAGCTCCATTTCACAGAGGAGGAAACTAGGCACAGAAAGATTAAGTAACTTGCCCAGGTGACACAGTGCATGCAAAGCTGGGATTGATTGATCGTTTGATTTTTTTGAGACAAAATCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACTTTTGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAG
|
CAGGGTGACCCGGCCTGGGGTAGGCGTGAAGGCTAGAGGCTGGGCCTCCAGCTCCTGCTCTGAGCAACCTTGGGCTCATTTCCTGATCTGGCCAGTGGAGGGGGCATGGGAGGGCCTGAGAGGTCTGCACGGGAGGAGTGGGGCAATCCCTGCCATGTTTTTTCCCAGTCACATTCTGGCCCACAGAACTCCCAGCCAAGACTGCTCCCGCTGCCCTCTGGAGAAGGCCAGACCCTTCCACCTGGCACTCTGGGCTCTCCACACCCAGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGGGCCTGGCAGCCCAAGTGGCATTGGGGACTGTTGAAGGGATCGGGGGCCGAGTCCTATCCTGACATGCCTGAGCTGGACCTTGCTTGGCAGACTTTGTGGCTGCAGCCACCACCCAGGGAACAAACCTTGTACCTGAGATCTCCTCCCTCCCCTTGCCTCTCAACACCTCTGCCTCCTCCAGGCATCCCTCCCGATTGCAAAAGCCCAGACATCTTTTCTCATCCTCTCTCCACCCCAAGGCCCAAAGCCCATTGGGATGTCTAGGGTTAAGACTGTCCCATTCTCTGCTCCTGGCTAGGCTGAGAAGTGAGGGAGGAGCCAAGGTGGGCCCAGGCCCTTTGCAGAGCATCCCCTTCAGTTCCCATGCCCACAGTCTTACAAGTCCTGGTTATCTCCTGAATATCAGCCTGCTTTCCACTGCTCCCTCCCTGTTGCCCCAAACTCTCTGCTCAGACCTTTGGGACAGCCGCCTTCCTGGTGTCACTCCCTCCCCACCATTCTGCACATCACAGCCAGAAGGACTGCCGCTGCCTCCACCCAAATGAGGAACAAAATCTTCCTGTGGTTGCAAGGCCCTCCACGATCTGCCCTTATTCTCAAGTTTCTTCCTGGCCCAGAATAACTGCTGCCTCCTGCAGGAAGTCATCTCAGCCCTGCTGCCACCAGCAGAAATGAAAACAGCTCAGGCTTGCTGGGTACTGTCCAGGGCCCGGGCACGGTGCCACACCCTCACCTGCATCCTGCTGGATCCTGACAACCATGTGTGAACTGGTGCTCAGGTTCTAGCTCCATTTCACAGAGGAGGAAACTAGGCACAGAAAGATTAAGTAACTTGCCCAGGTGACACAGTGCATGCAAAGCTGGGATTGATTGATCGTTTGATTTTTTTGAGACAAAATCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACTTTTGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGN
|
pathogenic
| 7,340 |
A genetic variant at chromosome 1, position 42746753, affecting gene P3H1 (prolyl 3-hydroxylase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Osteogenesis_imperfecta_type_8']
|
TTTGAGATGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGCAGGCTTGACGTCCTGGGCTCATGATCCTCCTACCTCAGCCTCCTTAGTATTGGGACCACAGGTGTGCATCACCATGCCTGGCTTTTCAAGTTTTTTTTAGAGATAGGGTCACCCTATGTTGACCAGGCTGGTCTTAAACTTCTGAACTCAAGTGATCCACTGGCCTTCGCCTCCCAAACTGCTGGGATTACAAGCGGAGCTACTGAGCCTGGCCTAGCTTCTTCTTGATGCCTTTTCTCACACCTCACATCCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTATTTTCTACCTCTAAGGGTTTTACACACACACACACACACACACACACACACACACAATTTACATGTGTTATCTGTTTCTCCTACAAAATACAAGCTGTATGAAGGTGGGGACTTGTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACC
|
TTTGAGATGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGCAGGCTTGACGTCCTGGGCTCATGATCCTCCTACCTCAGCCTCCTTAGTATTGGGACCACAGGTGTGCATCACCATGCCTGGCTTTTCAAGTTTTTTTTAGAGATAGGGTCACCCTATGTTGACCAGGCTGGTCTTAAACTTCTGAACTCAAGTGATCCACTGGCCTTCGCCTCCCAAACTGCTGGGATTACAAGCGGAGCTACTGAGCCTGGCCTAGCTTCTTCTTGATGCCTTTTCTCACACCTCACATCCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTATTTTCTACCTCTAAGGGTTTTACACACACACACACACACACACACACACACACACAATTTACATGTGTTATCTGTTTCTCCTACAAAATACAAGCTGTATGAAGGTGGGGACTTGTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAAC
|
pathogenic
| 7,351 |
Regarding the variant found on chromosome 1 at position 42746753 in gene P3H1 (prolyl 3-hydroxylase 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Osteogenesis_imperfecta_type_8']
|
TTTGAGATGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGCAGGCTTGACGTCCTGGGCTCATGATCCTCCTACCTCAGCCTCCTTAGTATTGGGACCACAGGTGTGCATCACCATGCCTGGCTTTTCAAGTTTTTTTTAGAGATAGGGTCACCCTATGTTGACCAGGCTGGTCTTAAACTTCTGAACTCAAGTGATCCACTGGCCTTCGCCTCCCAAACTGCTGGGATTACAAGCGGAGCTACTGAGCCTGGCCTAGCTTCTTCTTGATGCCTTTTCTCACACCTCACATCCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTATTTTCTACCTCTAAGGGTTTTACACACACACACACACACACACACACACACACACAATTTACATGTGTTATCTGTTTCTCCTACAAAATACAAGCTGTATGAAGGTGGGGACTTGTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACC
|
TTTGAGATGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGCAGGCTTGACGTCCTGGGCTCATGATCCTCCTACCTCAGCCTCCTTAGTATTGGGACCACAGGTGTGCATCACCATGCCTGGCTTTTCAAGTTTTTTTTAGAGATAGGGTCACCCTATGTTGACCAGGCTGGTCTTAAACTTCTGAACTCAAGTGATCCACTGGCCTTCGCCTCCCAAACTGCTGGGATTACAAGCGGAGCTACTGAGCCTGGCCTAGCTTCTTCTTGATGCCTTTTCTCACACCTCACATCCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTATTTTCTACCTCTAAGGGTTTTACACACACACACACACACACACACACACACACACAATTTACATGTGTTATCTGTTTCTCCTACAAAATACAAGCTGTATGAAGGTGGGGACTTGTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCN
|
pathogenic
| 7,352 |
Evaluate if the mutation on chromosome 1 at position 42746776 in P3H1 (prolyl 3-hydroxylase 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Osteogenesis_imperfecta_type_8', 'Osteogenesis_imperfecta_type_III']
|
TTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGCAGGCTTGACGTCCTGGGCTCATGATCCTCCTACCTCAGCCTCCTTAGTATTGGGACCACAGGTGTGCATCACCATGCCTGGCTTTTCAAGTTTTTTTTAGAGATAGGGTCACCCTATGTTGACCAGGCTGGTCTTAAACTTCTGAACTCAAGTGATCCACTGGCCTTCGCCTCCCAAACTGCTGGGATTACAAGCGGAGCTACTGAGCCTGGCCTAGCTTCTTCTTGATGCCTTTTCTCACACCTCACATCCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTATTTTCTACCTCTAAGGGTTTTACACACACACACACACACACACACACACACACACAATTTACATGTGTTATCTGTTTCTCCTACAAAATACAAGCTGTATGAAGGTGGGGACTTGTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCATGCAGGGAGAAGGTCACGAAAG
|
TTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGCAGGCTTGACGTCCTGGGCTCATGATCCTCCTACCTCAGCCTCCTTAGTATTGGGACCACAGGTGTGCATCACCATGCCTGGCTTTTCAAGTTTTTTTTAGAGATAGGGTCACCCTATGTTGACCAGGCTGGTCTTAAACTTCTGAACTCAAGTGATCCACTGGCCTTCGCCTCCCAAACTGCTGGGATTACAAGCGGAGCTACTGAGCCTGGCCTAGCTTCTTCTTGATGCCTTTTCTCACACCTCACATCCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTATTTTCTACCTCTAAGGGTTTTACACACACACACACACACACACACACACACACACAATTTACATGTGTTATCTGTTTCTCCTACAAAATACAAGCTGTATGAAGGTGGGGACTTGTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGCCCTGCTGGGCATCCAGGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCATGCAGGGAGAAGGTCACGAAA
|
pathogenic
| 7,354 |
Is chromosome 1, position 42746845, gene P3H1 (prolyl 3-hydroxylase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Osteogenesis_imperfecta_type_8']
|
TATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGCAGGCTTGACGTCCTGGGCTCATGATCCTCCTACCTCAGCCTCCTTAGTATTGGGACCACAGGTGTGCATCACCATGCCTGGCTTTTCAAGTTTTTTTTAGAGATAGGGTCACCCTATGTTGACCAGGCTGGTCTTAAACTTCTGAACTCAAGTGATCCACTGGCCTTCGCCTCCCAAACTGCTGGGATTACAAGCGGAGCTACTGAGCCTGGCCTAGCTTCTTCTTGATGCCTTTTCTCACACCTCACATCCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTATTTTCTACCTCTAAGGGTTTTACACACACACACACACACACACACACACACACACAATTTACATGTGTTATCTGTTTCTCCTACAAAATACAAGCTGTATGAAGGTGGGGACTTGTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCATGCAGGGAGAAGGTCACGAAAGGGAACAGACCGGGCTCACTGTCAAATGCCAGGCAGACCACGTCTTTCCCCAACGCAAACCTTTGGCATG
|
TATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGCAGGCTTGACGTCCTGGGCTCATGATCCTCCTACCTCAGCCTCCTTAGTATTGGGACCACAGGTGTGCATCACCATGCCTGGCTTTTCAAGTTTTTTTTAGAGATAGGGTCACCCTATGTTGACCAGGCTGGTCTTAAACTTCTGAACTCAAGTGATCCACTGGCCTTCGCCTCCCAAACTGCTGGGATTACAAGCGGAGCTACTGAGCCTGGCCTAGCTTCTTCTTGATGCCTTTTCTCACACCTCACATCCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTATTTTCTACCTCTAAGGGTTTTACACACACACACACACACACACACACACACACACAATTTACATGTGTTATCTGTTTCTCCTACAAAATACAAGCTGTATGAAGGTGGGGACTTGTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCATGCAGGGAGAAGGTCACGAAAGGGAACAGACCGGGCTCACTGTCAAATGCCAGGCAGACCACGTCTTTCCCCAACGCAAACCTTTGGCATGN
|
pathogenic
| 7,356 |
Assess the variant on chromosome 1, position 42747346, impacting P3H1 (prolyl 3-hydroxylase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_III']
|
CCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTATTTTCTACCTCTAAGGGTTTTACACACACACACACACACACACACACACACACACAATTTACATGTGTTATCTGTTTCTCCTACAAAATACAAGCTGTATGAAGGTGGGGACTTGTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCATGCAGGGAGAAGGTCACGAAAGGGAACAGACCGGGCTCACTGTCAAATGCCAGGCAGACCACGTCTTTCCCCAACGCAAACCTTTGGCATGCTCTATGTAGGCACCGTCACGTCGTGGTGGGTGCCTCCTTCTCCATTCCCACTTGTCCAGCCAGTCACCAGGTCCTGTCCATCCACCTCCTGCACCTTCCCGGGGCCTCACTTCTCCCTCCTCCCACTGCCACTTCCTGAGTTTAGGGCTTTGCCCTTGTCCACAGAGGTCATTGCTGACCAGCTTCCCTTTTTGGTTTGAAATCTCTCCACACACACAGCAGCAAAATGAATCCTTTAAAAGTCAAGGCCTCACCACGTCCTTCACTGCTTGATGAGGCCTCCCTGGCCTCCTGGCACCTGTGCTTGTGCTCTCCCACCGGGGGCTTGTGACACACCCAGTTGTGTGTCTGACTGGTCCCTTTGGGTGTGCCCAGATTGTGACAGAATTCCAAACATTCTGAGGTAGAGGAAAGCCCTCTGATCTGTGCCACGTACCAATGGCCATCACTGCCAGGGGCCTGCTGGAGGCTCCAGTATGACAGAGCCGGCTCTGGGCCAC
|
CCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTATTTTCTACCTCTAAGGGTTTTACACACACACACACACACACACACACACACACACAATTTACATGTGTTATCTGTTTCTCCTACAAAATACAAGCTGTATGAAGGTGGGGACTTGTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCATGCAGGGAGAAGGTCACGAAAGGGAACAGACCGGGCTCACTGTCAAATGCCAGGCAGACCACGTCTTTCCCCAACGCAAACCTTTGGCATGCTCTATGTAGGCACCGTCACGTCGTGGTGGGTGCCTCCTTCTCCATTCCCACTTGTCCAGCCAGTCACCAGGTCCTGTCCATCCACCTCCTGCACCTTCCCGGGGCCTCACTTCTCCCTCCTCCCACTGCCACTTCCTGAGTTTAGGGCTTTGCCCTTGTCCACAGAGGTCATTGCTGACCAGCTTCCCTTTTTGGTTTGAAATCTCTCCACACACACAGCAGCAAAATGAATCCTTTAAAAGTCAAGGCCTCACCACGTCCTTCACTGCTTGATGAGGCCTCCCTGGCCTCCTGGCACCTGTGCTTGTGCTCTCCCACCGGGGGCTTGTGACACACCCAGTTGTGTGTCTGACTGGTCCCTTTGGGTGTGCCCAGATTGTGACAGAATTCCAAACATTCTGAGGTAGAGGAAAGCCCTCTGATCTGTGCCACGTACCAATGGCCATCACTGCCAGGGGCCTGCTGGAGGCTCCAGTATGACAGAGCCGGCTCTGGGCCA
|
pathogenic
| 7,367 |
The mutation impacting P3H1 (prolyl 3-hydroxylase 1) on chromosome 1 at position 42747780: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Osteogenesis_imperfecta_type_8']
|
GTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCATGCAGGGAGAAGGTCACGAAAGGGAACAGACCGGGCTCACTGTCAAATGCCAGGCAGACCACGTCTTTCCCCAACGCAAACCTTTGGCATGCTCTATGTAGGCACCGTCACGTCGTGGTGGGTGCCTCCTTCTCCATTCCCACTTGTCCAGCCAGTCACCAGGTCCTGTCCATCCACCTCCTGCACCTTCCCGGGGCCTCACTTCTCCCTCCTCCCACTGCCACTTCCTGAGTTTAGGGCTTTGCCCTTGTCCACAGAGGTCATTGCTGACCAGCTTCCCTTTTTGGTTTGAAATCTCTCCACACACACAGCAGCAAAATGAATCCTTTAAAAGTCAAGGCCTCACCACGTCCTTCACTGCTTGATGAGGCCTCCCTGGCCTCCTGGCACCTGTGCTTGTGCTCTCCCACCGGGGGCTTGTGACACACCCAGTTGTGTGTCTGACTGGTCCCTTTGGGTGTGCCCAGATTGTGACAGAATTCCAAACATTCTGAGGTAGAGGAAAGCCCTCTGATCTGTGCCACGTACCAATGGCCATCACTGCCAGGGGCCTGCTGGAGGCTCCAGTATGACAGAGCCGGCTCTGGGCCACATAGGATCCTTGCAGCACTAGCTGAACCTCTCCCCTTCTTGGACATGCAAAAGGGAATGTGGGTGGGCGAGGGAATGAGGAATAACCTCCAGGCCACTCTCACTTGTAAATCACGAAGCTCTCTCACAAATTTGGTATTTAACAATTAGTAAAAGAGAATCTGCCACATAGCTATGGTTGAGCTAAAGGATAAAAATTCCCTTGAATGTAGCTCTCCAGGATTTGGCACCTTTCTTAGTTCCCCTGACTACCAGGCTGCACAATGCCTCCACTCCTGTGCAAACACCATCCCACCACCCGGAGTACTCCGTAATCGTATTCATCCTGCAAAACTGCCATTGCTTCCTCTGGGAAGCCTTCTTTTTGTTGTTGTTGTTGTTGTTATTATTTTTGCTTTTAACAAGCCCTTCTGTTGAGGGCTGTCTTTCAACAGA
|
GTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGAAGAGGATTAACAATAATCCCAACCATTCACCCAGAGCTTTACCGTTTACAAAAGTGTTGTCACATCCGATATTGCATCTGGGCCATACAGCTGCCCCAGAAGGTGAGCAGAGGGAGGACTATGATCCCCATTATACAGATGACAACCCCGAGGTGCTGAAGGTTAAGTGTCTGGCCTGTGGCTGCACAGCAAGTGGTTGAGCCAGGTGCCAAGCCAGGACTTCTCGTCCCACACCTGCCACTGGGTCCTGCCTAGAGCAATTTTTATCAAGTGAGACCTCTGGGACAGAATGGGCAAATTTCCATTGTCTGAACAAACCAAGTAAAAAAAACCATGAATCATTTATTCTTTGGTTGTCTACACAGACACTTAAGTACTGTATCGCTGTCATGCAGCGGCCTGTGGAGGCCCCTGGGGGTGGCTGGGCCTGTGTCCTGAGCCCTCAGCCAGATCCAGGGGGTGCGGTGTCTGGTCATGTCCACTCCAAGAGCAGTAGCACCATGTAGAAGGCTGTGAGCAGGGTCCCCTCGGCTGAGTGGCAGATGTAGGCTCACTGCTCTGCAGCCCCGAGGGGCTGGCCAGCTCAGAGTGCAGAAGAGTTCCTCTCCATGGGTCTAGTCACCCATCCGTCTGACCTGGACGCTGTCATAGCTCATCCTTGGGCTTCGATTCACTGCCTGAGAGAGACTCTTGTGCAGGTTCGGGGGGGCCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGGTCCATCTCTTCTGGGCTGAAGAGCATCTTCACCAGGTCATCTGCCTGCACCCTGTCCTGCAAGGACAAACCCCTGCCCATTCAGAGAGGCCTCCGCTCCAGACACTCGCTATCTCTCAGCTGCTACTTCCCAGGGGACAAGGAAGGTTCCTTAATGGCCCCAGGCTCATCTCCTTCCCAGCAGGTCCTACTCTCTGGAAAAGGACAGCTGAAGTGGGGCCCAAGGAGGGAACCAAGAACTCAGCATCGCTCCCTGTCTTGACCTCTTTCCCCACCTGGATCCCGTTCACAGCAGGCCCAGGGAGGACAAGGCAATGTGACCATAATGACAGGGCGTTGGAGCTGGTGTCCCAAGTGCTCCTTTCGTGTCTCAGCCACTGGCAATGGGATTTGGGGAAGAGAAAGGCAAACCAAGGGCGCTCTGGGAACGGGTCACCACAGCACCAGCTGCTCTCACCCGCTCGAGCTGCTCTCACCCGCTCGCTGTGTCGAGGGTCCAGGGTGAACCACAGGGCGATGGCACAGCGCTGCCCCCTGGTGACAGCCTTCACTCCATGTGGGTTTTCAGTGCCTGAAGAGAATCCCACGGCTCTTCCACACTGAGGCTGCACCTCTGCCTAAGGGGGACAGAAAGGGAGGGGGGTTGCACAGGACAAAGACTGTAATCCACTCTCAGAAGAGACATGGGCTCATTAGGGCTCACGACCGAGGGCAGCTCTTCAGTATGGCTTCCCTAAGACCAGAACTAAAGAGAAAGGGTGACTGGTTAGAGGAGTGATGGACACGTCTCAAAGCCCCTCTGGATGGGGGAAGGGTACCGCCCACTGGGAAGCCCAGTTGGTTATTTTTGTCCACTGCACTTTGGGAACATCAGCTGTAGAAAACAGACTTTTTATCTCCCAGGGACAAGGACAAGGGAGCACTCACCGTCACGGTCTTGGCATCCAGTTCAGTGAAATAAAAGTTTCCGCCATCGAAGTCCCCATTAGGTAAAGGATGGCGCTGGGAAAGGCAGAGACATCTCATCATGGCCCTTCCCTGCCTCCCTTTCCCCTGAGCCTTCACCTCCAGGTGCTCTCAACCAGCAGCAGGAGGGTGGCTTTGTGTGGGAGGGAAACCTTTAAGAACCTATACTGATGCCGTACAAACTCCACCTTTCCACTCTCCACCCTCGCCTTAGAGTCCCCTGTGCCCACTCACACTACCGTTCTTGTCACACCACGATATGATTCCCTCTTTGCCTATCTTCTTATCCAGCGGGTTTGGGGATAAAGGATTGGACTCTGGGAACAGCTAGCCCCAACCAGTGTGTGTGTGCTAGGGTGGGGTAGTAGAGTGCAGGGCACTGTGGGGCCTCTGAGGAGGGCACAGACCTCCTCACCCTGCACCTGCCCCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCATGCAGGGAGAAGGTCACGAAAGGGAACAGACCGGGCTCACTGTCAAATGCCAGGCAGACCACGTCTTTCCCCAACGCAAACCTTTGGCATGCTCTATGTAGGCACCGTCACGTCGTGGTGGGTGCCTCCTTCTCCATTCCCACTTGTCCAGCCAGTCACCAGGTCCTGTCCATCCACCTCCTGCACCTTCCCGGGGCCTCACTTCTCCCTCCTCCCACTGCCACTTCCTGAGTTTAGGGCTTTGCCCTTGTCCACAGAGGTCATTGCTGACCAGCTTCCCTTTTTGGTTTGAAATCTCTCCACACACACAGCAGCAAAATGAATCCTTTAAAAGTCAAGGCCTCACCACGTCCTTCACTGCTTGATGAGGCCTCCCTGGCCTCCTGGCACCTGTGCTTGTGCTCTCCCACCGGGGGCTTGTGACACACCCAGTTGTGTGTCTGACTGGTCCCTTTGGGTGTGCCCAGATTGTGACAGAATTCCAAACATTCTGAGGTAGAGGAAAGCCCTCTGATCTGTGCCACGTACCAATGGCCATCACTGCCAGGGGCCTGCTGGAGGCTCCAGTATGACAGAGCCGGCTCTGGGCCACATAGGATCCTTGCAGCACTAGCTGAACCTCTCCCCTTCTTGGACATGCAAAAGGGAATGTGGGTGGGCGAGGGAATGAGGAATAACCTCCAGGCCACTCTCACTTGTAAATCACGAAGCTCTCTCACAAATTTGGTATTTAACAATTAGTAAAAGAGAATCTGCCACATAGCTATGGTTGAGCTAAAGGATAAAAATTCCCTTGAATGTAGCTCTCCAGGATTTGGCACCTTTCTTAGTTCCCCTGACTACCAGGCTGCACAATGCCTCCACTCCTGTGCAAACACCATCCCACCACCCGGAGTACTCCGTAATCGTATTCATCCTGCAAAACTGCCATTGCTTCCTCTGGGAAGCCTTCTTTTTGTTGTTGTTGTTGTTGTTATTATTTTTGCTTTTAACAAGCCCTTCTGTTGAGGGCTGTCTTTCAACAGAN
|
pathogenic
| 7,372 |
Mutation found at chromosome 1 position 42750238, gene P3H1 (prolyl 3-hydroxylase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_8']
|
CCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCATGCAGGGAGAAGGTCACGAAAGGGAACAGACCGGGCTCACTGTCAAATGCCAGGCAGACCACGTCTTTCCCCAACGCAAACCTTTGGCATGCTCTATGTAGGCACCGTCACGTCGTGGTGGGTGCCTCCTTCTCCATTCCCACTTGTCCAGCCAGTCACCAGGTCCTGTCCATCCACCTCCTGCACCTTCCCGGGGCCTCACTTCTCCCTCCTCCCACTGCCACTTCCTGAGTTTAGGGCTTTGCCCTTGTCCACAGAGGTCATTGCTGACCAGCTTCCCTTTTTGGTTTGAAATCTCTCCACACACACAGCAGCAAAATGAATCCTTTAAAAGTCAAGGCCTCACCACGTCCTTCACTGCTTGATGAGGCCTCCCTGGCCTCCTGGCACCTGTGCTTGTGCTCTCCCACCGGGGGCTTGTGACACACCCAGTTGTGTGTCTGACTGGTCCCTTTGGGTGTGCCCAGATTGTGACAGAATTCCAAACATTCTGAGGTAGAGGAAAGCCCTCTGATCTGTGCCACGTACCAATGGCCATCACTGCCAGGGGCCTGCTGGAGGCTCCAGTATGACAGAGCCGGCTCTGGGCCACATAGGATCCTTGCAGCACTAGCTGAACCTCTCCCCTTCTTGGACATGCAAAAGGGAATGTGGGTGGGCGAGGGAATGAGGAATAACCTCCAGGCCACTCTCACTTGTAAATCACGAAGCTCTCTCACAAATTTGGTATTTAACAATTAGTAAAAGAGAATCTGCCACATAGCTATGGTTGAGCTAAAGGATAAAAATTCCCTTGAATGTAGCTCTCCAGGATTTGGCACCTTTCTTAGTTCCCCTGACTACCAGGCTGCACAATGCCTCCACTCCTGTGCAAACACCATCCCACCACCCGGAGTACTCCGTAATCGTATTCATCCTGCAAAACTGCCATTGCTTCCTCTGGGAAGCCTTCTTTTTGTTGTTGTTGTTGTTGTTATTATTTTTGCTTTTAACAAGCCCTTCTGTTGAGGGCTGTCTTTCAACAGATGGCAGCGAGGGAGCTGCTCAGCTATGTATGAAACCCTAACCCGGAGGCAGGTCCTCTATGAATGGTTTAGCACCAGCTTCCCCATTAAAGTGCGTTGTGTGACAAGTGACGGGTGGCCCCCTTTCTGGCTGCACCCCATTTCCCTCTGGGAAGCCTTCTTGATCCCCAGGTAGGTTGACTATAACTTCCTCCATGCTACTGTGGCATGCATCACACTGGGATGCCACCCATGTATTTACATTGGTTCCCCAACTGAAGAAAAGGGACCGCATCCTGTTCTCTCTGTGTCTTCAGCATCCAGCACAGAGCTGAGGTACAGCATGCGGGGGCGGGTGCTGCAGGGGTAATGAGGCCCACCTTCGATGGCAGTGCGGCACACCAGATGAGAGTAGGAAAAGTAGAGGGGCGTATCCAGGCGGAAGTAGGACTCCATGATGCGCCGCACCTTCTCCGTCACGTTGTAGTACAGGTGGGCACTCTGCAGAGGAACTTTGCCTTCTTGCCCCAGCTGCCAAGGAGACAGATGGTCAGCTGCCCTCAACGACTGATATGGTTTGGCTCTGTGTCCCTACCCAAATCTTATCTTGTAGTTCCCATAATTCCCATGTGTTGTGGAAGGGACCTGGTGGGAGATGACTGAATAATGGGGGTGGATCTTTCCCGTGCTGTTCTCATAATACTGAATAAGTCTCACGAGATCTGGTGGCTTTAAAAAAATGGGAGTTTGCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGCCGGGGGGGGTGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACGATGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCGGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTGTGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAATAAATAAATAAATAAATAAATAAATAAAATAATAAAAAATAAAAAATAAAAAAATGGGAGTTTGCCTGCAGAAGTTCTCTCTTTGCCTGCTGCCATCCATGTAAGATGTGACTTGCTCCTCTTTGCCTTCCACCATGATTGTGAGGCTTCCCCAGCCACATGGAACTGTAAGTCCAAGTAAACCTCTTTCTTTTGTAAATTGCCCAGTCTCGGGTACGTCTTTATCAGCAGTGTGAAAACGGACTAACACAACGCCCCTCTTTAGGGGCCAGAGACAATGAGTACCAGGCCCATCCCACGTCCCCACACCCCCACTGAAGCTGCAGCCTCTGCTGCCCACGCCCAATACCCCTACTATATTCCTCTTCCTCCTGTCCTTCTTATCTCTCTTTATGAGCACACTGTGCATCCTGCACAGAAGCACAGCCCTCTAGAATCAGCCTTTCTAAAGAAAGCATTCTCATAGCTTTGGCGAACAGTCTTATCCTGCTCACTTTGTTTTGATTACACTCGGTCTAACAGGATTCAAAAGTGAACCTCACGCAACATAACTCATCCTCGCTTCCTGGCAACAAGAATGTTGGCAGGTGGACCCTCTTCACCTTTCCTGCCACCAGCCCCAACTCTTCCTCAAAGCCTGAGCTTCCCCCTTCCCCACCCCTTTCTCCACACTCTAGAATGCCCAGTGTTGATCTTACCTTGAGGGCTTT
|
CCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGGCAGAAGTGAGCAGGGTGTGGCAAGCAGGAATGAAGGGCTCCAACCAAGGGCAGATCCTGGGCAGAATGGCACAACCCTGGTTTGTAGCTGGACTTTACAAAATACAAAGGCCCAGGGAAGTGAGAATGAGGGATCAGGAGGTGGGACGGACGCAGGGCAGAGTGGGTCAGTCCTCCATCAGGACTGCAGGAGATGGGGCTGAGTGGCAGGAAGTGGGGCAGAGAAGAGCTGGCTAGCAAAGGGAAAGCATGAACTTCAGTGGGGCTCTGGGGTGGGGTGGGTGGAGAAACCATGCAGGGAGAAGGTCACGAAAGGGAACAGACCGGGCTCACTGTCAAATGCCAGGCAGACCACGTCTTTCCCCAACGCAAACCTTTGGCATGCTCTATGTAGGCACCGTCACGTCGTGGTGGGTGCCTCCTTCTCCATTCCCACTTGTCCAGCCAGTCACCAGGTCCTGTCCATCCACCTCCTGCACCTTCCCGGGGCCTCACTTCTCCCTCCTCCCACTGCCACTTCCTGAGTTTAGGGCTTTGCCCTTGTCCACAGAGGTCATTGCTGACCAGCTTCCCTTTTTGGTTTGAAATCTCTCCACACACACAGCAGCAAAATGAATCCTTTAAAAGTCAAGGCCTCACCACGTCCTTCACTGCTTGATGAGGCCTCCCTGGCCTCCTGGCACCTGTGCTTGTGCTCTCCCACCGGGGGCTTGTGACACACCCAGTTGTGTGTCTGACTGGTCCCTTTGGGTGTGCCCAGATTGTGACAGAATTCCAAACATTCTGAGGTAGAGGAAAGCCCTCTGATCTGTGCCACGTACCAATGGCCATCACTGCCAGGGGCCTGCTGGAGGCTCCAGTATGACAGAGCCGGCTCTGGGCCACATAGGATCCTTGCAGCACTAGCTGAACCTCTCCCCTTCTTGGACATGCAAAAGGGAATGTGGGTGGGCGAGGGAATGAGGAATAACCTCCAGGCCACTCTCACTTGTAAATCACGAAGCTCTCTCACAAATTTGGTATTTAACAATTAGTAAAAGAGAATCTGCCACATAGCTATGGTTGAGCTAAAGGATAAAAATTCCCTTGAATGTAGCTCTCCAGGATTTGGCACCTTTCTTAGTTCCCCTGACTACCAGGCTGCACAATGCCTCCACTCCTGTGCAAACACCATCCCACCACCCGGAGTACTCCGTAATCGTATTCATCCTGCAAAACTGCCATTGCTTCCTCTGGGAAGCCTTCTTTTTGTTGTTGTTGTTGTTGTTATTATTTTTGCTTTTAACAAGCCCTTCTGTTGAGGGCTGTCTTTCAACAGATGGCAGCGAGGGAGCTGCTCAGCTATGTATGAAACCCTAACCCGGAGGCAGGTCCTCTATGAATGGTTTAGCACCAGCTTCCCCATTAAAGTGCGTTGTGTGACAAGTGACGGGTGGCCCCCTTTCTGGCTGCACCCCATTTCCCTCTGGGAAGCCTTCTTGATCCCCAGGTAGGTTGACTATAACTTCCTCCATGCTACTGTGGCATGCATCACACTGGGATGCCACCCATGTATTTACATTGGTTCCCCAACTGAAGAAAAGGGACCGCATCCTGTTCTCTCTGTGTCTTCAGCATCCAGCACAGAGCTGAGGTACAGCATGCGGGGGCGGGTGCTGCAGGGGTAATGAGGCCCACCTTCGATGGCAGTGCGGCACACCAGATGAGAGTAGGAAAAGTAGAGGGGCGTACCAGGCGGAAGTAGGACTCCATGATGCGCCGCACCTTCTCCGTCACGTTGTAGTACAGGTGGGCACTCTGCAGAGGAACTTTGCCTTCTTGCCCCAGCTGCCAAGGAGACAGATGGTCAGCTGCCCTCAACGACTGATATGGTTTGGCTCTGTGTCCCTACCCAAATCTTATCTTGTAGTTCCCATAATTCCCATGTGTTGTGGAAGGGACCTGGTGGGAGATGACTGAATAATGGGGGTGGATCTTTCCCGTGCTGTTCTCATAATACTGAATAAGTCTCACGAGATCTGGTGGCTTTAAAAAAATGGGAGTTTGCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGCCGGGGGGGGTGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACGATGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCGGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTGTGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAATAAATAAATAAATAAATAAATAAATAAAATAATAAAAAATAAAAAATAAAAAAATGGGAGTTTGCCTGCAGAAGTTCTCTCTTTGCCTGCTGCCATCCATGTAAGATGTGACTTGCTCCTCTTTGCCTTCCACCATGATTGTGAGGCTTCCCCAGCCACATGGAACTGTAAGTCCAAGTAAACCTCTTTCTTTTGTAAATTGCCCAGTCTCGGGTACGTCTTTATCAGCAGTGTGAAAACGGACTAACACAACGCCCCTCTTTAGGGGCCAGAGACAATGAGTACCAGGCCCATCCCACGTCCCCACACCCCCACTGAAGCTGCAGCCTCTGCTGCCCACGCCCAATACCCCTACTATATTCCTCTTCCTCCTGTCCTTCTTATCTCTCTTTATGAGCACACTGTGCATCCTGCACAGAAGCACAGCCCTCTAGAATCAGCCTTTCTAAAGAAAGCATTCTCATAGCTTTGGCGAACAGTCTTATCCTGCTCACTTTGTTTTGATTACACTCGGTCTAACAGGATTCAAAAGTGAACCTCACGCAACATAACTCATCCTCGCTTCCTGGCAACAAGAATGTTGGCAGGTGGACCCTCTTCACCTTTCCTGCCACCAGCCCCAACTCTTCCTCAAAGCCTGAGCTTCCCCCTTCCCCACCCCTTTCTCCACACTCTAGAATGCCCAGTGTTGATCTTACCTTGAGGGCTTTN
|
pathogenic
| 7,383 |
Classify the chromosome 1 variant at position 42752620 affecting gene P3H1 (prolyl 3-hydroxylase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Osteogenesis_imperfecta_type_8']
|
GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGCCGGGGGGGGTGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACGATGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCGGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTGTGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAATAAATAAATAAATAAATAAATAAATAAAATAATAAAAAATAAAAAATAAAAAAATGGGAGTTTGCCTGCAGAAGTTCTCTCTTTGCCTGCTGCCATCCATGTAAGATGTGACTTGCTCCTCTTTGCCTTCCACCATGATTGTGAGGCTTCCCCAGCCACATGGAACTGTAAGTCCAAGTAAACCTCTTTCTTTTGTAAATTGCCCAGTCTCGGGTACGTCTTTATCAGCAGTGTGAAAACGGACTAACACAACGCCCCTCTTTAGGGGCCAGAGACAATGAGTACCAGGCCCATCCCACGTCCCCACACCCCCACTGAAGCTGCAGCCTCTGCTGCCCACGCCCAATACCCCTACTATATTCCTCTTCCTCCTGTCCTTCTTATCTCTCTTTATGAGCACACTGTGCATCCTGCACAGAAGCACAGCCCTCTAGAATCAGCCTTTCTAAAGAAAGCATTCTCATAGCTTTGGCGAACAGTCTTATCCTGCTCACTTTGTTTTGATTACACTCGGTCTAACAGGATTCAAAAGTGAACCTCACGCAACATAACTCATCCTCGCTTCCTGGCAACAAGAATGTTGGCAGGTGGACCCTCTTCACCTTTCCTGCCACCAGCCCCAACTCTTCCTCAAAGCCTGAGCTTCCCCCTTCCCCACCCCTTTCTCCACACTCTAGAATGCCCAGTGTTGATCTTACCTTGAGGGCTTTGAAGACAGTGACACCATAGAACTTTTCATTGGGAGTATGTGGGGAGGTCTGACCCCGGTAGCCATCTCCTGAGGTTGCTGCCACCTACAAGGCCCAAAACACAAGGTGATGTTAGCCAGGGCAGCTGAGGGCTTGAGAAGAGGTGGTCAACTGTGGCCAGGAAGAGGAAGGCGAAGGCTACCACCCAAGGGGCACTTGGTGGGGGGATGCTGGACCCTTGGGGGAAGGTGCAGTCACTGGGCTTCCCTTACATTGGTCAGTCTCTGCAGCTCCTGACACTCGTGGTCAGAGATTACGCCGTCCATCACCACCCGCTGGGAACCATTCAGGAGTTTGGAGTTCATGGTGAGACTGATGCCTTCATACAGCAGGGGGCCACCTGCAAAGCAATGACAAAACTCTAGCTAAATCTAGCAGCAGCTAGACCAAAGACTCTCCATTGGATATTGCCTCCTCGTCACAAATAGAAATTCCAGCTGTTTCCTTTTCACCAGCAAAATCTCCCGCTAGGTCATTTTCAAAGGTAGAATAGTCCAGAGGACAGAACATAGAGCTGAAAGATGAGATTCCCAGTCCCAGCTCCATGACCAAATAGCTGCTGGCTTTTGGGCCATGACACACTCTTGAGGAAACATCAGAAACACAATCCTAAAACATGAGCTCGGGAACGAGGAAGAACTGACTTTGACTCCTAGATCCTCCATTGATTAGCTGTGTGACCTTGGCAAGTTACTTAACCTCCCTGAGGTTAATTTTAATTAATTAAAATGTTCTCATCTGTCAAACAGCATCTACCTTATATGTTTGATGCCAGTATAATGTTAAGAACAAGGAAGGCAAGTTAAAAGCTTAGTACAATATTTGGCATATGGTAAGTCCTCAAAAGTTTGGCTACCATGGTATCATCATCATTATTCATTTAAAATAAGGATCTTGCAATCTGCATGACTCACCTCTCAGTTATAAGAATCAAGAGAAATAACAAAGTGAAAGTGGTCTGAAAACAAAGGAATGCTGGACAAATTCTTTTCATACGCTAATCTTGTTTAATTAACCACTGTTAATTTAAGCAACTATAGGGCAAAGGTCAACATTTCTCTCTTACAGTTCTCATGGTGTTTCTCTGTGCTAGGGACATACTAATACTAGAGACTCAGTTCAACTCCACTTGATAACTGAGGCCTCAGTGTGTACCAGGAACTGTGCCAGATAGGGTGAGAGATGAATCCTAGAAGACAGTACCTGTTCTCTAACAATTATGCAAATAACTAGCATAAGACAGACCATAAATGCCCTAAGAAGTTCAAAAGAAAGGAGGGGACTCCAATCATCTGGGAGGTTAAGAAAGGCTTTACGGCAGGGCACAGTGGCTTATGCCTATAATCTCAGCACTTTGGGAGGCCAGGGCGGGTGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGCCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTCCTTGATGATCCCGGGATGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCCAAAAAAAAAAAAAAGAAAGGCTTTGCAGGGTATATCTCAGATGCCCTCATGGGCAGGGATGGTGGGAAGCGTACTAGGAGAGCCAGGCATAAACACAGACTGGTGGGCAGTGGGCGGGCTCACGGAACAAAGTGCAGTCCTGTGTGAAGAGACGGTGTAAACAGGACAAGAGTAGAACATTCGGTTAAGGGGCAGGCACGGAGGATGGGTCAGAGGCCAGTGTCTGGAAGACTGGCCTAGCTACCTTGTGTGGGCAGGGGCAAGGACAGGCCAGACGGGGAAAGGGTGGGTGCAGATAGGAGGTGCCAGGGCCTGAAGGAAGCCTGAGGCAATGAAAAACGGAAAAGGCTGGGGAGAGAGCTGAGAAGCACTGCAGAGCAGAGCCACAATCAGTAGGCCTTCCCAGCAGCTTGCAGAAAACGGGCACAGGAGGAAGAGGAGCCAAAGGAGGCCTGAAGGCGTTGAGTCTCAGTAAAGGGACGAATGGTGAAAACCGGGAGAAAACAGTTTGGGAGTGGGGAGACAGGATGAGTTAATACCTATGGAAGTGGACAACACTAGTCACTCATGTTTCTGTGACACAGAAGTCTCATTTCTTTCTTTTTTTTTAAAGATGAGGTCTTGCTATATTGCCCAGGCTGGATTCAAACTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTGCCAAGTAGCTGGGATTACGGGTGTGCACCACTACATCCTGGAGTCTGATTTCTGAGC
|
GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGCCGGGGGGGGTGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACGATGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCGGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTGTGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAATAAATAAATAAATAAATAAATAAATAAAATAATAAAAAATAAAAAATAAAAAAATGGGAGTTTGCCTGCAGAAGTTCTCTCTTTGCCTGCTGCCATCCATGTAAGATGTGACTTGCTCCTCTTTGCCTTCCACCATGATTGTGAGGCTTCCCCAGCCACATGGAACTGTAAGTCCAAGTAAACCTCTTTCTTTTGTAAATTGCCCAGTCTCGGGTACGTCTTTATCAGCAGTGTGAAAACGGACTAACACAACGCCCCTCTTTAGGGGCCAGAGACAATGAGTACCAGGCCCATCCCACGTCCCCACACCCCCACTGAAGCTGCAGCCTCTGCTGCCCACGCCCAATACCCCTACTATATTCCTCTTCCTCCTGTCCTTCTTATCTCTCTTTATGAGCACACTGTGCATCCTGCACAGAAGCACAGCCCTCTAGAATCAGCCTTTCTAAAGAAAGCATTCTCATAGCTTTGGCGAACAGTCTTATCCTGCTCACTTTGTTTTGATTACACTCGGTCTAACAGGATTCAAAAGTGAACCTCACGCAACATAACTCATCCTCGCTTCCTGGCAACAAGAATGTTGGCAGGTGGACCCTCTTCACCTTTCCTGCCACCAGCCCCAACTCTTCCTCAAAGCCTGAGCTTCCCCCTTCCCCACCCCTTTCTCCACACTCTAGAATGCCCAGTGTTGATCTTACCTTGAGGGCTTTGAAGACAGTGACACCATAGAACTTTTCATTGGGAGTATGTGGGGAGGTCTGACCCCGGTAGCCATCTCCTGAGGTTGCTGCCACCTACAAGGCCCAAAACACAAGGTGATGTTAGCCAGGGCAGCTGAGGGCTTGAGAAGAGGTGGTCAACTGTGGCCAGGAAGAGGAAGGCGAAGGCTACCACCCAAGGGGCACTTGGTGGGGGGATGCTGGACCCTTGGGGGAAGGTGCAGTCACTGGGCTTCCCTTACATTGGTCAGTCTCTGCAGCTCCTGACACTCGTGGTCAGAGATTACGCCGTCCATCACCACCCGCTGGGAACCATTCAGGAGTTTGGAGTTCGGAGTTCATGGTGAGACTGATGCCTTCATACAGCAGGGGGCCACCTGCAAAGCAATGACAAAACTCTAGCTAAATCTAGCAGCAGCTAGACCAAAGACTCTCCATTGGATATTGCCTCCTCGTCACAAATAGAAATTCCAGCTGTTTCCTTTTCACCAGCAAAATCTCCCGCTAGGTCATTTTCAAAGGTAGAATAGTCCAGAGGACAGAACATAGAGCTGAAAGATGAGATTCCCAGTCCCAGCTCCATGACCAAATAGCTGCTGGCTTTTGGGCCATGACACACTCTTGAGGAAACATCAGAAACACAATCCTAAAACATGAGCTCGGGAACGAGGAAGAACTGACTTTGACTCCTAGATCCTCCATTGATTAGCTGTGTGACCTTGGCAAGTTACTTAACCTCCCTGAGGTTAATTTTAATTAATTAAAATGTTCTCATCTGTCAAACAGCATCTACCTTATATGTTTGATGCCAGTATAATGTTAAGAACAAGGAAGGCAAGTTAAAAGCTTAGTACAATATTTGGCATATGGTAAGTCCTCAAAAGTTTGGCTACCATGGTATCATCATCATTATTCATTTAAAATAAGGATCTTGCAATCTGCATGACTCACCTCTCAGTTATAAGAATCAAGAGAAATAACAAAGTGAAAGTGGTCTGAAAACAAAGGAATGCTGGACAAATTCTTTTCATACGCTAATCTTGTTTAATTAACCACTGTTAATTTAAGCAACTATAGGGCAAAGGTCAACATTTCTCTCTTACAGTTCTCATGGTGTTTCTCTGTGCTAGGGACATACTAATACTAGAGACTCAGTTCAACTCCACTTGATAACTGAGGCCTCAGTGTGTACCAGGAACTGTGCCAGATAGGGTGAGAGATGAATCCTAGAAGACAGTACCTGTTCTCTAACAATTATGCAAATAACTAGCATAAGACAGACCATAAATGCCCTAAGAAGTTCAAAAGAAAGGAGGGGACTCCAATCATCTGGGAGGTTAAGAAAGGCTTTACGGCAGGGCACAGTGGCTTATGCCTATAATCTCAGCACTTTGGGAGGCCAGGGCGGGTGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGCCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTCCTTGATGATCCCGGGATGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCCAAAAAAAAAAAAAAGAAAGGCTTTGCAGGGTATATCTCAGATGCCCTCATGGGCAGGGATGGTGGGAAGCGTACTAGGAGAGCCAGGCATAAACACAGACTGGTGGGCAGTGGGCGGGCTCACGGAACAAAGTGCAGTCCTGTGTGAAGAGACGGTGTAAACAGGACAAGAGTAGAACATTCGGTTAAGGGGCAGGCACGGAGGATGGGTCAGAGGCCAGTGTCTGGAAGACTGGCCTAGCTACCTTGTGTGGGCAGGGGCAAGGACAGGCCAGACGGGGAAAGGGTGGGTGCAGATAGGAGGTGCCAGGGCCTGAAGGAAGCCTGAGGCAATGAAAAACGGAAAAGGCTGGGGAGAGAGCTGAGAAGCACTGCAGAGCAGAGCCACAATCAGTAGGCCTTCCCAGCAGCTTGCAGAAAACGGGCACAGGAGGAAGAGGAGCCAAAGGAGGCCTGAAGGCGTTGAGTCTCAGTAAAGGGACGAATGGTGAAAACCGGGAGAAAACAGTTTGGGAGTGGGGAGACAGGATGAGTTAATACCTATGGAAGTGGACAACACTAGTCACTCATGTTTCTGTGACACAGAAGTCTCATTTCTTTCTTTTTTTTTAAAGATGAGGTCTTGCTATATTGCCCAGGCTGGATTCAAACTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTGCCAAGTAGCTGGGATTACGGGTGTGCACCACTACATCCTGGAGTCTGATT
|
pathogenic
| 7,389 |
Classify the chromosome 1 variant at position 42758864 affecting gene P3H1 (prolyl 3-hydroxylase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Osteogenesis_imperfecta_type_8']
|
AAGCCACTGCACAAGTTACTTCATCTCTCAGATGCTAACAGTCCTCATCCCTAAAGTGGGAAGAAGAGTGCCAACCTTGCAGGGTGGCTGTGATGATTAAATGAGATGATGGATACAGCCCACCCCGCACAGAGCTTCGCCTGGACAGCGGCTCAACAAATGTTAGTTGCCTTCTTTCCAAAAGGGGACTTCTAGTTAAAAATGCTAGATTGGCCACGTGGGTTTATTTCCCCTCACTCCCCTCAGACTCCCCTTAATGGCCATAAGGAAGGCAGGGAAAAGGTATTAACCAAACAAGACAAAAGAGACCGGAAGTGCCATCTTAAAGCCAGATGGTCACCATCTAGTGGCTAAAGAGGACAACTACAATGACAACCCACACAGGAGGGGCAGCAAGAGGCTGTTTCTACTGGAGGCTCTCAGACTCCAGAGCTCGGAAGAAGAGCCTGGGTGTCTCCTTTCAGCGCAGCAGTCTTTGTGTTATACAGATATTTCTCCTGGTTTTGGAGAGAGACAGGGAAAATGCTGAAAGATGGGAGAGAACAAACAATGGCAGGAAGAAGAAGAGATGGGAAAGAAAATGGAGACAGAAAACAGGTGAGCAGAAAAAAAACAACCAGTATTAAGTGAAAAATGATAGCTCTTGGCCAAATAATATCGAGTGTCCAAGTTAGGGGTGCCAAGAGGGGAAAGAATATGCTCACCGCGCAGTTCTGCGGGACTCAGAGAATAGACTTCTGGGCCCAGATAACGCTAATTGAGGCTCCTGTGTACTCCCCACACTCCCTCCCTGTGCTCCCTTCTCCTCTGAATAACAAGCCGAGTGACTGAACTCACATCTGGCCCCAACACTGACATCTGGCCCCTGCCCTGCACGCACAGCGCCTACTCCCCTCTGCTACCCCACTCTTCCGCCCTCAGGTCTGAGTTCAGCTGGCAGCTGTCATAACAGAAGGAAGTCTCTCACCTCACGGGGGCCGATGGATCTGGTGTGTTCTTCTCCAAGCATAGCTGCATAATAGGCCAAATTTTGGTTCATCACCTCGTCATTGGGGAAGAAGAGAAGATAGGTCTTGGCACATTCAACAGCCTGTGTATAATTCCCAACTGCAAAGTGGAAAGAAGAATGGCTGAGAGGAAAGAGTCAAAAGGAAAGGATAAAATCCTAGCACCAGGGACCACTTAGTGTTCAGTCTCCACAAAGCTTGAGGCAATGGCAGCATGACAAGCTGGTGCCTGCTACTTAACATGATGGCCTGATTTCAGGGGCAGGAGTTAAGTAATACACATAGAATGTGTGATTAATTTTAAGGTGAGGTGGTCAATGTCCTCAGGGCTGCCTAACAATGAAACAGAAAAGAATCAGAATTCTCTGCATGCCCACATCTTTTAAGATTCACAAATAATTCCAATACTCCTTAATATTTTGCCTCAATACACTCAATCATTAGATCAATTTCCCTGTCTTCCTACCTTCTTTTTTCTATAGATTTTCAGAAGACAAGGAAGATTACAATAGCAGATTGTCTCTTTGGCAAAATAGTTCTTGTTGATATTTGTTAGTCATCTCAACTCAACTGTAAATATTGTACACTCATCAATATGTTTGTAATGCTTAGCACACAGTAGGGACTCTGCAAAGAGTTGGTTTTCTGGGTATTAATTGGCAGCCCCACAAAAGCATCAGTGCTATACCAGGGAGAGGGCTAGCAAATGTCCTCTGAGCTAGTTTAAACTGTGGCATACCCTTATTTTGCTATTAACTTTAATTCAAAAGCAAAAATAGATTACAAGTTATAGAAGGGACAAGAGATGAGGTCCTAAGTCTCCCTCCCCCAGCTTTTTGGGTTGCTGGTATTGGCTTCCTAGGCCAGTTGTTTATAACAAACTACCCAGGGATCACTTGGCATGGTGCCTCCCATAGCTACTGAAATAAGCCAAACACCTTGAGGAAGTAAGTGGCTGTAATCCCTGCCCACCTTGCCTTTAGCTTCTTAGTTAGCCAGCAGAGAAAGAGGAAGGAAAGTAGGCCTTACTGTTATAGTAGGCAAACTGCAGATAATTATAATGCGATGGGAGGAAGTCTTCAAAGGGCTTCTCTCGACTTGGGTGGGAAGCAAGCTCCGTGACACAGTTCTGCTTACAGTTGAGGACCTGGATGTAATGATCTGAAAGGAATCAAACAGAAGGAATAACTATGAGGTCACTCTTTAGAACTCAAATTCTGGTTAAGATGAACAAATTCAAATGGAAGCAATTTTTCATCAGCTTCTCAGATTTAATAAATTGAGGAATGAGGGTGAAGAGTCCCCATTTATATTATCAGATGGTGACCTTAGAGTCCCAGGAGGCCTGGCTGAAGGTCTGGCTCTGAACTGCACGCACCTGTGATGGCCTGGAAGAGGTCAGCGTTGTACTCAAGGTAGTTGTAGCCATCGTAGTCATAGGGCCCTTCGCAGAGGGCACGGCACTCCTCATAGGCCACAAAGTATTCTTGCAGCGCCGCCTCTAGGTGGGGCACAGCTTCCTGTGGCTGTTCCTCTGAGTAGAGTCGCACTCCCAGTCGAAATTCTTGCTACTGGGAAGAAGGAGCACTCAAATGCAGGCCACAGAGGAGGAACCCTCTCTCCTTGCCCTCAGCCACCTTCACAGGGGTCCTAATTTCCTGTTCCTCAGGTTATGGATGGAAAGGGGTGACCTGGGTACCACTATAAAATGAAGGCCTTTTGTAAATGGTCTTTACAAAATATTTAGCTCTGGAAATTTAAAAACATTTAGCTCTTTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGACTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCTAGTAGCTGGGATTACATTGTGCCCAGCTAATTTTTGTATTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTAACCTCAAGCAATCCTCCCAACTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAAAAAACATTTAACTCTTAATCTAGATGAAAGATATCTAGGAGTTCATTATGATTTTCTTGTACTTTTCTTCCCCCCCCATTAGTGACAGATTCTTGCACTTTTTTTTTTTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATAGTGCGATCTTGGCTCACTGCAACATCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTATGCGCCACCACGCCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTTGTCATGTTGGTCTGGCTGGTCTTGAACTGCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAGGTTCTTGCACTTTTTTGTAGGGCTAACAGTTTTCAAATAAACACAACTTACTTTTTGTTTTGTTTTGTTTTGAGACAGAGTTTTTTTTTGAGACAGACAGCCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGTGATTCTAGCGCCTCAGCCTCCTGAGAAGCTGGGATTACAGACATACACCACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGGCCTCAAGTGATCCACTCACCTCGGCCTCCCAAAATTCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAACACAACTTACTTTTTTTTGTGTGTGTGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGGCTCCTGAGTAGCTGGGAATACAGGCACACACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGATTCACCATGTTAGGCAGGACGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTTC
|
AAGCCACTGCACAAGTTACTTCATCTCTCAGATGCTAACAGTCCTCATCCCTAAAGTGGGAAGAAGAGTGCCAACCTTGCAGGGTGGCTGTGATGATTAAATGAGATGATGGATACAGCCCACCCCGCACAGAGCTTCGCCTGGACAGCGGCTCAACAAATGTTAGTTGCCTTCTTTCCAAAAGGGGACTTCTAGTTAAAAATGCTAGATTGGCCACGTGGGTTTATTTCCCCTCACTCCCCTCAGACTCCCCTTAATGGCCATAAGGAAGGCAGGGAAAAGGTATTAACCAAACAAGACAAAAGAGACCGGAAGTGCCATCTTAAAGCCAGATGGTCACCATCTAGTGGCTAAAGAGGACAACTACAATGACAACCCACACAGGAGGGGCAGCAAGAGGCTGTTTCTACTGGAGGCTCTCAGACTCCAGAGCTCGGAAGAAGAGCCTGGGTGTCTCCTTTCAGCGCAGCAGTCTTTGTGTTATACAGATATTTCTCCTGGTTTTGGAGAGAGACAGGGAAAATGCTGAAAGATGGGAGAGAACAAACAATGGCAGGAAGAAGAAGAGATGGGAAAGAAAATGGAGACAGAAAACAGGTGAGCAGAAAAAAAACAACCAGTATTAAGTGAAAAATGATAGCTCTTGGCCAAATAATATCGAGTGTCCAAGTTAGGGGTGCCAAGAGGGGAAAGAATATGCTCACCGCGCAGTTCTGCGGGACTCAGAGAATAGACTTCTGGGCCCAGATAACGCTAATTGAGGCTCCTGTGTACTCCCCACACTCCCTCCCTGTGCTCCCTTCTCCTCTGAATAACAAGCCGAGTGACTGAACTCACATCTGGCCCCAACACTGACATCTGGCCCCTGCCCTGCACGCACAGCGCCTACTCCCCTCTGCTACCCCACTCTTCCGCCCTCAGGTCTGAGTTCAGCTGGCAGCTGTCATAACAGAAGGAAGTCTCTCACCTCACGGGGGCCGATGGATCTGGTGTGTTCTTCTCCAAGCATAGCTGCATAATAGGCCAAATTTTGGTTCATCACCTCGTCATTGGGGAAGAAGAGAAGATAGGTCTTGGCACATTCAACAGCCTGTGTATAATTCCCAACTGCAAAGTGGAAAGAAGAATGGCTGAGAGGAAAGAGTCAAAAGGAAAGGATAAAATCCTAGCACCAGGGACCACTTAGTGTTCAGTCTCCACAAAGCTTGAGGCAATGGCAGCATGACAAGCTGGTGCCTGCTACTTAACATGATGGCCTGATTTCAGGGGCAGGAGTTAAGTAATACACATAGAATGTGTGATTAATTTTAAGGTGAGGTGGTCAATGTCCTCAGGGCTGCCTAACAATGAAACAGAAAAGAATCAGAATTCTCTGCATGCCCACATCTTTTAAGATTCACAAATAATTCCAATACTCCTTAATATTTTGCCTCAATACACTCAATCATTAGATCAATTTCCCTGTCTTCCTACCTTCTTTTTTCTATAGATTTTCAGAAGACAAGGAAGATTACAATAGCAGATTGTCTCTTTGGCAAAATAGTTCTTGTTGATATTTGTTAGTCATCTCAACTCAACTGTAAATATTGTACACTCATCAATATGTTTGTAATGCTTAGCACACAGTAGGGACTCTGCAAAGAGTTGGTTTTCTGGGTATTAATTGGCAGCCCCACAAAAGCATCAGTGCTATACCAGGGAGAGGGCTAGCAAATGTCCTCTGAGCTAGTTTAAACTGTGGCATACCCTTATTTTGCTATTAACTTTAATTCAAAAGCAAAAATAGATTACAAGTTATAGAAGGGACAAGAGATGAGGTCCTAAGTCTCCCTCCCCCAGCTTTTTGGGTTGCTGGTATTGGCTTCCTAGGCCAGTTGTTTATAACAAACTACCCAGGGATCACTTGGCATGGTGCCTCCCATAGCTACTGAAATAAGCCAAACACCTTGAGGAAGTAAGTGGCTGTAATCCCTGCCCACCTTGCCTTTAGCTTCTTAGTTAGCCAGCAGAGAAAGAGGAAGGAAAGTAGGCCTTACTGTTATAGTAGGCAACTGCAGATAATTATAATGCGATGGGAGGAAGTCTTCAAAGGGCTTCTCTCGACTTGGGTGGGAAGCAAGCTCCGTGACACAGTTCTGCTTACAGTTGAGGACCTGGATGTAATGATCTGAAAGGAATCAAACAGAAGGAATAACTATGAGGTCACTCTTTAGAACTCAAATTCTGGTTAAGATGAACAAATTCAAATGGAAGCAATTTTTCATCAGCTTCTCAGATTTAATAAATTGAGGAATGAGGGTGAAGAGTCCCCATTTATATTATCAGATGGTGACCTTAGAGTCCCAGGAGGCCTGGCTGAAGGTCTGGCTCTGAACTGCACGCACCTGTGATGGCCTGGAAGAGGTCAGCGTTGTACTCAAGGTAGTTGTAGCCATCGTAGTCATAGGGCCCTTCGCAGAGGGCACGGCACTCCTCATAGGCCACAAAGTATTCTTGCAGCGCCGCCTCTAGGTGGGGCACAGCTTCCTGTGGCTGTTCCTCTGAGTAGAGTCGCACTCCCAGTCGAAATTCTTGCTACTGGGAAGAAGGAGCACTCAAATGCAGGCCACAGAGGAGGAACCCTCTCTCCTTGCCCTCAGCCACCTTCACAGGGGTCCTAATTTCCTGTTCCTCAGGTTATGGATGGAAAGGGGTGACCTGGGTACCACTATAAAATGAAGGCCTTTTGTAAATGGTCTTTACAAAATATTTAGCTCTGGAAATTTAAAAACATTTAGCTCTTTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGACTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCTAGTAGCTGGGATTACATTGTGCCCAGCTAATTTTTGTATTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTAACCTCAAGCAATCCTCCCAACTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAAAAAACATTTAACTCTTAATCTAGATGAAAGATATCTAGGAGTTCATTATGATTTTCTTGTACTTTTCTTCCCCCCCCATTAGTGACAGATTCTTGCACTTTTTTTTTTTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATAGTGCGATCTTGGCTCACTGCAACATCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTATGCGCCACCACGCCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTTGTCATGTTGGTCTGGCTGGTCTTGAACTGCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAGGTTCTTGCACTTTTTTGTAGGGCTAACAGTTTTCAAATAAACACAACTTACTTTTTGTTTTGTTTTGTTTTGAGACAGAGTTTTTTTTTGAGACAGACAGCCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGTGATTCTAGCGCCTCAGCCTCCTGAGAAGCTGGGATTACAGACATACACCACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGGCCTCAAGTGATCCACTCACCTCGGCCTCCCAAAATTCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAACACAACTTACTTTTTTTTGTGTGTGTGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGGCTCCTGAGTAGCTGGGAATACAGGCACACACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGATTCACCATGTTAGGCAGGACGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTTCN
|
pathogenic
| 7,407 |
Determine if the mutation at chromosome 1, position 42758875 in gene P3H1 (prolyl 3-hydroxylase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Osteogenesis_imperfecta_type_8']
|
CAAGTTACTTCATCTCTCAGATGCTAACAGTCCTCATCCCTAAAGTGGGAAGAAGAGTGCCAACCTTGCAGGGTGGCTGTGATGATTAAATGAGATGATGGATACAGCCCACCCCGCACAGAGCTTCGCCTGGACAGCGGCTCAACAAATGTTAGTTGCCTTCTTTCCAAAAGGGGACTTCTAGTTAAAAATGCTAGATTGGCCACGTGGGTTTATTTCCCCTCACTCCCCTCAGACTCCCCTTAATGGCCATAAGGAAGGCAGGGAAAAGGTATTAACCAAACAAGACAAAAGAGACCGGAAGTGCCATCTTAAAGCCAGATGGTCACCATCTAGTGGCTAAAGAGGACAACTACAATGACAACCCACACAGGAGGGGCAGCAAGAGGCTGTTTCTACTGGAGGCTCTCAGACTCCAGAGCTCGGAAGAAGAGCCTGGGTGTCTCCTTTCAGCGCAGCAGTCTTTGTGTTATACAGATATTTCTCCTGGTTTTGGAGAGAGACAGGGAAAATGCTGAAAGATGGGAGAGAACAAACAATGGCAGGAAGAAGAAGAGATGGGAAAGAAAATGGAGACAGAAAACAGGTGAGCAGAAAAAAAACAACCAGTATTAAGTGAAAAATGATAGCTCTTGGCCAAATAATATCGAGTGTCCAAGTTAGGGGTGCCAAGAGGGGAAAGAATATGCTCACCGCGCAGTTCTGCGGGACTCAGAGAATAGACTTCTGGGCCCAGATAACGCTAATTGAGGCTCCTGTGTACTCCCCACACTCCCTCCCTGTGCTCCCTTCTCCTCTGAATAACAAGCCGAGTGACTGAACTCACATCTGGCCCCAACACTGACATCTGGCCCCTGCCCTGCACGCACAGCGCCTACTCCCCTCTGCTACCCCACTCTTCCGCCCTCAGGTCTGAGTTCAGCTGGCAGCTGTCATAACAGAAGGAAGTCTCTCACCTCACGGGGGCCGATGGATCTGGTGTGTTCTTCTCCAAGCATAGCTGCATAATAGGCCAAATTTTGGTTCATCACCTCGTCATTGGGGAAGAAGAGAAGATAGGTCTTGGCACATTCAACAGCCTGTGTATAATTCCCAACTGCAAAGTGGAAAGAAGAATGGCTGAGAGGAAAGAGTCAAAAGGAAAGGATAAAATCCTAGCACCAGGGACCACTTAGTGTTCAGTCTCCACAAAGCTTGAGGCAATGGCAGCATGACAAGCTGGTGCCTGCTACTTAACATGATGGCCTGATTTCAGGGGCAGGAGTTAAGTAATACACATAGAATGTGTGATTAATTTTAAGGTGAGGTGGTCAATGTCCTCAGGGCTGCCTAACAATGAAACAGAAAAGAATCAGAATTCTCTGCATGCCCACATCTTTTAAGATTCACAAATAATTCCAATACTCCTTAATATTTTGCCTCAATACACTCAATCATTAGATCAATTTCCCTGTCTTCCTACCTTCTTTTTTCTATAGATTTTCAGAAGACAAGGAAGATTACAATAGCAGATTGTCTCTTTGGCAAAATAGTTCTTGTTGATATTTGTTAGTCATCTCAACTCAACTGTAAATATTGTACACTCATCAATATGTTTGTAATGCTTAGCACACAGTAGGGACTCTGCAAAGAGTTGGTTTTCTGGGTATTAATTGGCAGCCCCACAAAAGCATCAGTGCTATACCAGGGAGAGGGCTAGCAAATGTCCTCTGAGCTAGTTTAAACTGTGGCATACCCTTATTTTGCTATTAACTTTAATTCAAAAGCAAAAATAGATTACAAGTTATAGAAGGGACAAGAGATGAGGTCCTAAGTCTCCCTCCCCCAGCTTTTTGGGTTGCTGGTATTGGCTTCCTAGGCCAGTTGTTTATAACAAACTACCCAGGGATCACTTGGCATGGTGCCTCCCATAGCTACTGAAATAAGCCAAACACCTTGAGGAAGTAAGTGGCTGTAATCCCTGCCCACCTTGCCTTTAGCTTCTTAGTTAGCCAGCAGAGAAAGAGGAAGGAAAGTAGGCCTTACTGTTATAGTAGGCAAACTGCAGATAATTATAATGCGATGGGAGGAAGTCTTCAAAGGGCTTCTCTCGACTTGGGTGGGAAGCAAGCTCCGTGACACAGTTCTGCTTACAGTTGAGGACCTGGATGTAATGATCTGAAAGGAATCAAACAGAAGGAATAACTATGAGGTCACTCTTTAGAACTCAAATTCTGGTTAAGATGAACAAATTCAAATGGAAGCAATTTTTCATCAGCTTCTCAGATTTAATAAATTGAGGAATGAGGGTGAAGAGTCCCCATTTATATTATCAGATGGTGACCTTAGAGTCCCAGGAGGCCTGGCTGAAGGTCTGGCTCTGAACTGCACGCACCTGTGATGGCCTGGAAGAGGTCAGCGTTGTACTCAAGGTAGTTGTAGCCATCGTAGTCATAGGGCCCTTCGCAGAGGGCACGGCACTCCTCATAGGCCACAAAGTATTCTTGCAGCGCCGCCTCTAGGTGGGGCACAGCTTCCTGTGGCTGTTCCTCTGAGTAGAGTCGCACTCCCAGTCGAAATTCTTGCTACTGGGAAGAAGGAGCACTCAAATGCAGGCCACAGAGGAGGAACCCTCTCTCCTTGCCCTCAGCCACCTTCACAGGGGTCCTAATTTCCTGTTCCTCAGGTTATGGATGGAAAGGGGTGACCTGGGTACCACTATAAAATGAAGGCCTTTTGTAAATGGTCTTTACAAAATATTTAGCTCTGGAAATTTAAAAACATTTAGCTCTTTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGACTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCTAGTAGCTGGGATTACATTGTGCCCAGCTAATTTTTGTATTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTAACCTCAAGCAATCCTCCCAACTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAAAAAACATTTAACTCTTAATCTAGATGAAAGATATCTAGGAGTTCATTATGATTTTCTTGTACTTTTCTTCCCCCCCCATTAGTGACAGATTCTTGCACTTTTTTTTTTTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATAGTGCGATCTTGGCTCACTGCAACATCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTATGCGCCACCACGCCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTTGTCATGTTGGTCTGGCTGGTCTTGAACTGCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAGGTTCTTGCACTTTTTTGTAGGGCTAACAGTTTTCAAATAAACACAACTTACTTTTTGTTTTGTTTTGTTTTGAGACAGAGTTTTTTTTTGAGACAGACAGCCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGTGATTCTAGCGCCTCAGCCTCCTGAGAAGCTGGGATTACAGACATACACCACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGGCCTCAAGTGATCCACTCACCTCGGCCTCCCAAAATTCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAACACAACTTACTTTTTTTTGTGTGTGTGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGGCTCCTGAGTAGCTGGGAATACAGGCACACACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGATTCACCATGTTAGGCAGGACGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTTCCAAAGTGCTGG
|
CAAGTTACTTCATCTCTCAGATGCTAACAGTCCTCATCCCTAAAGTGGGAAGAAGAGTGCCAACCTTGCAGGGTGGCTGTGATGATTAAATGAGATGATGGATACAGCCCACCCCGCACAGAGCTTCGCCTGGACAGCGGCTCAACAAATGTTAGTTGCCTTCTTTCCAAAAGGGGACTTCTAGTTAAAAATGCTAGATTGGCCACGTGGGTTTATTTCCCCTCACTCCCCTCAGACTCCCCTTAATGGCCATAAGGAAGGCAGGGAAAAGGTATTAACCAAACAAGACAAAAGAGACCGGAAGTGCCATCTTAAAGCCAGATGGTCACCATCTAGTGGCTAAAGAGGACAACTACAATGACAACCCACACAGGAGGGGCAGCAAGAGGCTGTTTCTACTGGAGGCTCTCAGACTCCAGAGCTCGGAAGAAGAGCCTGGGTGTCTCCTTTCAGCGCAGCAGTCTTTGTGTTATACAGATATTTCTCCTGGTTTTGGAGAGAGACAGGGAAAATGCTGAAAGATGGGAGAGAACAAACAATGGCAGGAAGAAGAAGAGATGGGAAAGAAAATGGAGACAGAAAACAGGTGAGCAGAAAAAAAACAACCAGTATTAAGTGAAAAATGATAGCTCTTGGCCAAATAATATCGAGTGTCCAAGTTAGGGGTGCCAAGAGGGGAAAGAATATGCTCACCGCGCAGTTCTGCGGGACTCAGAGAATAGACTTCTGGGCCCAGATAACGCTAATTGAGGCTCCTGTGTACTCCCCACACTCCCTCCCTGTGCTCCCTTCTCCTCTGAATAACAAGCCGAGTGACTGAACTCACATCTGGCCCCAACACTGACATCTGGCCCCTGCCCTGCACGCACAGCGCCTACTCCCCTCTGCTACCCCACTCTTCCGCCCTCAGGTCTGAGTTCAGCTGGCAGCTGTCATAACAGAAGGAAGTCTCTCACCTCACGGGGGCCGATGGATCTGGTGTGTTCTTCTCCAAGCATAGCTGCATAATAGGCCAAATTTTGGTTCATCACCTCGTCATTGGGGAAGAAGAGAAGATAGGTCTTGGCACATTCAACAGCCTGTGTATAATTCCCAACTGCAAAGTGGAAAGAAGAATGGCTGAGAGGAAAGAGTCAAAAGGAAAGGATAAAATCCTAGCACCAGGGACCACTTAGTGTTCAGTCTCCACAAAGCTTGAGGCAATGGCAGCATGACAAGCTGGTGCCTGCTACTTAACATGATGGCCTGATTTCAGGGGCAGGAGTTAAGTAATACACATAGAATGTGTGATTAATTTTAAGGTGAGGTGGTCAATGTCCTCAGGGCTGCCTAACAATGAAACAGAAAAGAATCAGAATTCTCTGCATGCCCACATCTTTTAAGATTCACAAATAATTCCAATACTCCTTAATATTTTGCCTCAATACACTCAATCATTAGATCAATTTCCCTGTCTTCCTACCTTCTTTTTTCTATAGATTTTCAGAAGACAAGGAAGATTACAATAGCAGATTGTCTCTTTGGCAAAATAGTTCTTGTTGATATTTGTTAGTCATCTCAACTCAACTGTAAATATTGTACACTCATCAATATGTTTGTAATGCTTAGCACACAGTAGGGACTCTGCAAAGAGTTGGTTTTCTGGGTATTAATTGGCAGCCCCACAAAAGCATCAGTGCTATACCAGGGAGAGGGCTAGCAAATGTCCTCTGAGCTAGTTTAAACTGTGGCATACCCTTATTTTGCTATTAACTTTAATTCAAAAGCAAAAATAGATTACAAGTTATAGAAGGGACAAGAGATGAGGTCCTAAGTCTCCCTCCCCCAGCTTTTTGGGTTGCTGGTATTGGCTTCCTAGGCCAGTTGTTTATAACAAACTACCCAGGGATCACTTGGCATGGTGCCTCCCATAGCTACTGAAATAAGCCAAACACCTTGAGGAAGTAAGTGGCTGTAATCCCTGCCCACCTTGCCTTTAGCTTCTTAGTTAGCCAGCAGAGAAAGAGGAAGGAAAGTAGGCCTTACTGTTATAGTAGGCAAACTGCAGATATTATAATGCGATGGGAGGAAGTCTTCAAAGGGCTTCTCTCGACTTGGGTGGGAAGCAAGCTCCGTGACACAGTTCTGCTTACAGTTGAGGACCTGGATGTAATGATCTGAAAGGAATCAAACAGAAGGAATAACTATGAGGTCACTCTTTAGAACTCAAATTCTGGTTAAGATGAACAAATTCAAATGGAAGCAATTTTTCATCAGCTTCTCAGATTTAATAAATTGAGGAATGAGGGTGAAGAGTCCCCATTTATATTATCAGATGGTGACCTTAGAGTCCCAGGAGGCCTGGCTGAAGGTCTGGCTCTGAACTGCACGCACCTGTGATGGCCTGGAAGAGGTCAGCGTTGTACTCAAGGTAGTTGTAGCCATCGTAGTCATAGGGCCCTTCGCAGAGGGCACGGCACTCCTCATAGGCCACAAAGTATTCTTGCAGCGCCGCCTCTAGGTGGGGCACAGCTTCCTGTGGCTGTTCCTCTGAGTAGAGTCGCACTCCCAGTCGAAATTCTTGCTACTGGGAAGAAGGAGCACTCAAATGCAGGCCACAGAGGAGGAACCCTCTCTCCTTGCCCTCAGCCACCTTCACAGGGGTCCTAATTTCCTGTTCCTCAGGTTATGGATGGAAAGGGGTGACCTGGGTACCACTATAAAATGAAGGCCTTTTGTAAATGGTCTTTACAAAATATTTAGCTCTGGAAATTTAAAAACATTTAGCTCTTTTTTTCTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGACTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCTAGTAGCTGGGATTACATTGTGCCCAGCTAATTTTTGTATTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTAACCTCAAGCAATCCTCCCAACTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAAAAAACATTTAACTCTTAATCTAGATGAAAGATATCTAGGAGTTCATTATGATTTTCTTGTACTTTTCTTCCCCCCCCATTAGTGACAGATTCTTGCACTTTTTTTTTTTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATAGTGCGATCTTGGCTCACTGCAACATCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTATGCGCCACCACGCCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTTGTCATGTTGGTCTGGCTGGTCTTGAACTGCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAGGTTCTTGCACTTTTTTGTAGGGCTAACAGTTTTCAAATAAACACAACTTACTTTTTGTTTTGTTTTGTTTTGAGACAGAGTTTTTTTTTGAGACAGACAGCCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGTGATTCTAGCGCCTCAGCCTCCTGAGAAGCTGGGATTACAGACATACACCACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGGCCTCAAGTGATCCACTCACCTCGGCCTCCCAAAATTCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAACACAACTTACTTTTTTTTGTGTGTGTGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGGCTCCTGAGTAGCTGGGAATACAGGCACACACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGATTCACCATGTTAGGCAGGACGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTTCCAAAGTGCTGGN
|
pathogenic
| 7,408 |
Mutation found at chromosome 1 position 42762368, gene P3H1 (prolyl 3-hydroxylase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Osteogenesis_imperfecta_type_8']
|
CAAATAAACACAACTTACTTTTTGTTTTGTTTTGTTTTGAGACAGAGTTTTTTTTTGAGACAGACAGCCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGTGATTCTAGCGCCTCAGCCTCCTGAGAAGCTGGGATTACAGACATACACCACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGGCCTCAAGTGATCCACTCACCTCGGCCTCCCAAAATTCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAACACAACTTACTTTTTTTTGTGTGTGTGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGGCTCCTGAGTAGCTGGGAATACAGGCACACACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGATTCACCATGTTAGGCAGGACGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTTCCAAAGTGCTGGGATGACAGGTGTGACCCACTGCACCTGGCCACAACTTACTTTTAAAAGTCATTCTTTTTTTTTTTTTTTTTTTGACTGTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGCTATTCTCCTGCCTCCATGTCGAGTAGCTGGGATTACGGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACTGCGCCTGGCCTATAAGTCATTCTTATATTGTTTCTAACATTCCTATTTTATAATTAAAATGTAAGGAACCATAAACTCTCTATAAAATGCTATATCATCACAGACAGTCCCTCCTTTGGAACTTTTCCTGCTAAACAAATAGAATGAGAACATTGAAGGATACTGTAACATTTATTGTAGTGAAAATCAAAAACATACATGACCAAAAAAATGTGACTAGTGAATTAATATAGTCTCTGCATAAGATGGACTATCATGCAGCCATAAACAATTATGTTTTCAAATAAAACTGAAGACATGAGAAAAGACTCATGATAATAATGTTAGTTAAAAAATGATGATGGGGCTGGCCATGGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGCCCAAGGCAGTAGGATCGCTTGAGGCCAGGAGTTTGAAATCAGCCTGGGCAACACAGTGAGACCCCGTCTCTACAAAAAATAAAAACAATAGCTGGGTATGGTGGTGCATGCCTCTAGTCCCAGCTATTTGTGGGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCACACCATTGCACTGCAGCCTGGACAACAAAGTGAGACCCTGCCTCAAAAAAAATAAAAAAGATGATAAAAAATGCATACATGATATAACACCAAATTAGATGAAAAAATTATATACGGAAGACTTAAAAAATAGGGCAAAATATAAACTGGTTTTCTTAAGGTGGCGGTATTACAAATGATTACTTTTTATTTTATACTTACCTACATTTCTACAATGTTATACAATGAACATTCATTACTTCTGTAATGTAATTAGAAAACAACCTTAGTAATGTCATTTAAAAAAAAACAAAAGAATGCATGCCTGTAGTCCCAACTACTCAGGAGGCCGAGACTAGAGGGTCTCTTGAGTCCGGGAATTTGAGGTTACAGTGAGCTATGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCTAAAATAAATTTAAAAAGAAAGAAAGAAAGAAGGGGATAAAGTTTTTTTCACCATATGGGGTTGAGTCTCAAGATCCTTGAAGTCGGCCTCCTTCACTCCAGACATGGTTTGGTAATAGTCTAGGTTCTGCTGCATTTCCATGTGCTCAGGATTGCCCACGAAGAAGGTGTGTGCTGCAGCAACAGCTTTCTCCAACTTGTTGATCTAAGAATGAAGCATGAGAAGGTGGATAATGCTCACATCCAATCTCTGAACGTTTGTGTCCACATGAGCAGTCCACATAAACAGGAAATCCCTGCCTCCCTGAGCCCTCCACTCAGCGTGCCCAGCCCCTGCCAGCCCCAGGAAGCACACCTATTGCAGGAACTACCCACGACAGATTAGGAGCATAGTGCCCTGGGCAGATTTGTAGCTCTTTCCCAAGTCAGATTTAGGGGTTCCCCAGATTACAGGAAGTAGCAATGTTCCATTTTAAAACAAAGGTCATATTGTATGGGGAGTGCTGTGAAAGACTGACTGCCCACATAATATGTTTTCATGCTGGGTGCGGTGGCTCAGGTCTGTAATCCCAGCATTTTTAGAGGCCGAGGCAGGTGGATCACTTGAGCTCAGGAGTTCAAGACCAGTCTGGGCAACATGGTGAAACCCTGTCTTTACGAAAAATACAAAAATTACATGGTACTATATGCCTGTAGTCCCAGCTACTCTGCAGGCTGAGGTGGGAGGACGCTTGGGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACAGCACTCCAGCTTGGGTGACACAGCAGGACCCTGACTCAAAAAAAAAAAAATACATATATATATTTCATGAATCAAATGTAATGCCTGAGCTGAAGAAATTCTGTGGCTTCAAGGATTTAGGGGTAGAGAAAAAAGAGCAGCTAACAGACTATGCCTAAGAATTTTCCTAGAAAAAAATTTTTTTTTGCATAAAATAAAATGAAGAATTTTTGAGACATTTAGGGAAAAGGTGGATGGCTAAAAATTCTAAGGTCCTTTACTAAGTCCAGACATAGTATTTTCTGACTCAAAGCTCAGGGCTCATGAGGTTCAAACAAATAGCTCTAAGAAATCTGAGGGGGTGGTCGGGGGCGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGGGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTTGTGGCGCACACCCGTAATCCCAGCTTCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGCGAGCCGAGATCACAGCACCATACTCCAGCCTGGGTGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATCCAAGGGGGGAGAAATAGGCTACAGACCACAATGCCCACAGCAATGGACTCCAGCATGTCAAAGTAACACAGGTTTCATATATAGAATCCAACCAAATAAATCACTGATGATCTAGTAATTAACTATGTGGACACTGGTATCAAAGAGACCAGCCGTGGCCAGGCACGGGGGTTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCGGATCATGAGGTCAGGAGTTTGAGACCAACAATAGCTGGGCGTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCTAGCTTGGGCAACAAGAGCGAAACTCCGTCTCAAAAGAAAAGAGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGATCCAGACCATCCTGGCCAATATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGATGTGATGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGGGAGTCACTTGAACCAGAAAACCAGAAGTCAGAGGTTGCAGTAAGCCAAGGTCGCCACTGCACTCCAGCCTGGCAACAGCGAGAC
|
CAAATAAACACAACTTACTTTTTGTTTTGTTTTGTTTTGAGACAGAGTTTTTTTTTGAGACAGACAGCCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGTGATTCTAGCGCCTCAGCCTCCTGAGAAGCTGGGATTACAGACATACACCACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGGCCTCAAGTGATCCACTCACCTCGGCCTCCCAAAATTCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAACACAACTTACTTTTTTTTGTGTGTGTGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGGCTCCTGAGTAGCTGGGAATACAGGCACACACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGATTCACCATGTTAGGCAGGACGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTTCCAAAGTGCTGGGATGACAGGTGTGACCCACTGCACCTGGCCACAACTTACTTTTAAAAGTCATTCTTTTTTTTTTTTTTTTTTTGACTGTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGCTATTCTCCTGCCTCCATGTCGAGTAGCTGGGATTACGGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACTGCGCCTGGCCTATAAGTCATTCTTATATTGTTTCTAACATTCCTATTTTATAATTAAAATGTAAGGAACCATAAACTCTCTATAAAATGCTATATCATCACAGACAGTCCCTCCTTTGGAACTTTTCCTGCTAAACAAATAGAATGAGAACATTGAAGGATACTGTAACATTTATTGTAGTGAAAATCAAAAACATACATGACCAAAAAAATGTGACTAGTGAATTAATATAGTCTCTGCATAAGATGGACTATCATGCAGCCATAAACAATTATGTTTTCAAATAAAACTGAAGACATGAGAAAAGACTCATGATAATAATGTTAGTTAAAAAATGATGATGGGGCTGGCCATGGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGCCCAAGGCAGTAGGATCGCTTGAGGCCAGGAGTTTGAAATCAGCCTGGGCAACACAGTGAGACCCCGTCTCTACAAAAAATAAAAACAATAGCTGGGTATGGTGGTGCATGCCTCTAGTCCCAGCTATTTGTGGGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGATCACACCATTGCACTGCAGCCTGGACAACAAAGTGAGACCCTGCCTCAAAAAAAATAAAAAAGATGATAAAAAATGCATACATGATATAACACCAAATTAGATGAAAAAATTATATACGGAAGACTTAAAAAATAGGGCAAAATATAAACTGGTTTTCTTAAGGTGGCGGTATTACAAATGATTACTTTTTATTTTATACTTACCTACATTTCTACAATGTTATACAATGAACATTCATTACTTCTGTAATGTAATTAGAAAACAACCTTAGTAATGTCATTTAAAAAAAAACAAAAGAATGCATGCCTGTAGTCCCAACTACTCAGGAGGCCGAGACTAGAGGGTCTCTTGAGTCCGGGAATTTGAGGTTACAGTGAGCTATGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCTAAAATAAATTTAAAAAGAAAGAAAGAAAGAAGGGGATAAAGTTTTTTTCACCATATGGGGTTGAGTCTCAAGATCCTTGAAGTCGGCCTCCTTCACTCAGACATGGTTTGGTAATAGTCTAGGTTCTGCTGCATTTCCATGTGCTCAGGATTGCCCACGAAGAAGGTGTGTGCTGCAGCAACAGCTTTCTCCAACTTGTTGATCTAAGAATGAAGCATGAGAAGGTGGATAATGCTCACATCCAATCTCTGAACGTTTGTGTCCACATGAGCAGTCCACATAAACAGGAAATCCCTGCCTCCCTGAGCCCTCCACTCAGCGTGCCCAGCCCCTGCCAGCCCCAGGAAGCACACCTATTGCAGGAACTACCCACGACAGATTAGGAGCATAGTGCCCTGGGCAGATTTGTAGCTCTTTCCCAAGTCAGATTTAGGGGTTCCCCAGATTACAGGAAGTAGCAATGTTCCATTTTAAAACAAAGGTCATATTGTATGGGGAGTGCTGTGAAAGACTGACTGCCCACATAATATGTTTTCATGCTGGGTGCGGTGGCTCAGGTCTGTAATCCCAGCATTTTTAGAGGCCGAGGCAGGTGGATCACTTGAGCTCAGGAGTTCAAGACCAGTCTGGGCAACATGGTGAAACCCTGTCTTTACGAAAAATACAAAAATTACATGGTACTATATGCCTGTAGTCCCAGCTACTCTGCAGGCTGAGGTGGGAGGACGCTTGGGCCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACAGCACTCCAGCTTGGGTGACACAGCAGGACCCTGACTCAAAAAAAAAAAAATACATATATATATTTCATGAATCAAATGTAATGCCTGAGCTGAAGAAATTCTGTGGCTTCAAGGATTTAGGGGTAGAGAAAAAAGAGCAGCTAACAGACTATGCCTAAGAATTTTCCTAGAAAAAAATTTTTTTTTGCATAAAATAAAATGAAGAATTTTTGAGACATTTAGGGAAAAGGTGGATGGCTAAAAATTCTAAGGTCCTTTACTAAGTCCAGACATAGTATTTTCTGACTCAAAGCTCAGGGCTCATGAGGTTCAAACAAATAGCTCTAAGAAATCTGAGGGGGTGGTCGGGGGCGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGGGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTTGTGGCGCACACCCGTAATCCCAGCTTCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGCGAGCCGAGATCACAGCACCATACTCCAGCCTGGGTGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATCCAAGGGGGGAGAAATAGGCTACAGACCACAATGCCCACAGCAATGGACTCCAGCATGTCAAAGTAACACAGGTTTCATATATAGAATCCAACCAAATAAATCACTGATGATCTAGTAATTAACTATGTGGACACTGGTATCAAAGAGACCAGCCGTGGCCAGGCACGGGGGTTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCGGATCATGAGGTCAGGAGTTTGAGACCAACAATAGCTGGGCGTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCTAGCTTGGGCAACAAGAGCGAAACTCCGTCTCAAAAGAAAAGAGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGATCCAGACCATCCTGGCCAATATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGATGTGATGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGGGAGTCACTTGAACCAGAAAACCAGAAGTCAGAGGTTGCAGTAAGCCAAGGTCGCCACTGCACTCCAGCCTGGCAACAGCGAGACN
|
pathogenic
| 7,418 |
A genetic variant at chromosome 1, position 42766739, affecting gene P3H1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Osteogenesis_imperfecta_type_8']
|
TGCTAAGAAAACTTATTTTCTTATCATTGGTACTAGTAAAGGCACACTAAAGGAGTCAGCCCTGGTTAGGTGACCCAAGGTAAATAACTCCCCATCTCTGTACCTCAGTTTCTTTAACTGTAAAATTAGAAATTTTTTCAGGTCTGTCCCTTTCATGGAATTACTCTAGCTCTTGTGTCTTTCAGCGCTGCTCCTGCCTTTCTCTGTTCTCCCTCATGTCCTCACTCCTCTCTCCACCCCCAGCCTTCTTTACTCTCTAAGCACTGAGGTACTTAACCTCCTCTCTTGTGGACAAATGTCTGCCTCCTAATCAAGTGCCACCACTTTCTCCTTCTTCCAAGGCTCATTCACCATGGCTTCCAGAATAAGCGTTTTAAAACCCAAATCTGAGGATGGCTCCCTGCAGTCCGCAGAATTCTCTTCCAAATCTGGCCTCACTGACTTTTCTAGCCGCCTCTCCTACTACTCCCCACACACATCTCGACATTGCAATCACAAGAGTTCATTTTTTTTCCTGAATACATCATGCTTTGGTTCTACTTTTCTCTCTATCTGGAGGAGCCTTCTTTCCTCTCCCCCTGGCAATACTTAGGGCAGGCTTCAATATTACCTCTTCTTTGAAGTCTAATTTCTCTGAGATAAAGCTAGAGTCTCCCTCCTTTGTGCTCCCGCAGCCCTAAGTATATGCCCTTGCAGTAGCCCTTACTACAGTAACTCTTAACAGCAAAGCAAGACAAAGCAAAGACGTTAGTCGAGCATTTAATTACTTGTACAAGAACTGGAATGCAGTAGGTATGCAATACATGTTTGTCAAATAGTTTTAGAAAGTGCTATGATGAAGCGACATAACCAAAGACATAACGCAATTATTTTGATTTCAAGTCCAGCGCTCTTCCGAGTAACTAGGAAAAATGAGGGGAACTGTGTAGGCAGAATGCTGTGGAGGGGTGGAAATCTGAGGTCCCCAAGAGTCTCTAAGTGTCTCTTTAGATCGAATCGAAGGTCTTTTAAACAACAGATATACCAGATATAATGCACAACTCTTTCTCCCCCCACCCCCAATACAGTGGGACTAATAACAGCATCTACCTGACAAGATATTATGAAGATTAGGGCAAATGCGTTAATAAATGCAAACTGCTTAAAATAGTGCCTGGAAGTATGTGCTGGCTATCATCATCATCATCATCGTCACCATCACCACCACCAAACAAGCCTGGAACGCTCCAAGCCCAAGTGTACACTTGGACACATGGCACTCTGGCATTCCGAAAAATACTCATTTTCTTTGTAAACCTGGCAGACTAGCCAGAGGGTCCCCCCCCCGCCCCCACACACACACAGAAAGGGCCAGGCAGCCCCTGCTGGCGACGTGGCAACCTCACATCCTGAAAGAGAGCTGCTGAATCAAACAGCAGGAAAAGCACCACTGGAAAACCAACCGGAAGGGAGATATTGTAGACCGCTACTAGCTTCTCACTCGGACACTTACAATGACATCAGAATGGGAGACCCAAACTGCCGCTTTAATTCCTTCCAGGAGATTTCCCAGGGAACAAAATGGCCATGAGTTTTGCTTGGCCTGTGCCCTAACCCCAGGCTGGACCTTTGGGGTTAGCATCTGCCCATGCGAACTGGGCGAGGAAGGTCTCCTGCCAGGGAGCAGCTCTCCCCGGCTCCGAGGAGAGCTCCCCAGCCAGGAGGCCACTTTCCCCTCCCTGCGGACACTTCCCCGATCCCCCAAGCTCCTCAGGTCCCCTGCAACACTCCTCTCCCCAGAAGGACCCCGGCCGCCTGGTTCCAGGCAGGTCTGCACCTTGAAGTAGGCGACCTGCAGGTAGTTGTAGGGGCTCCGCTTGCGGAACTCCAGCTCCATCTCTTCGCTGAGCGAGTGGGCGGCCGGCGGCCCGAGGCAGCGGCGCAGGCAGGCAGCGCGACGCAGAAGGCCCCCGAAGAAGCTCAGGTCGCGCAGGGCGGCGGCGCCCGAGGCCTGGGCCGGGCTGGGGGACCAGTCGGGGTCCAGCTCCCACGGGAAGTCGGCGGCACACTGGGTGCGGCAGCGCAGGCGAAGGGCGCGGAGGGCTGCCCGGGAGCGCAGCGCCCGTTCCATGCTCAGGACCACCCCGGGCCAGTCCCCGCGCGCGTAGGCTGCGGTCCCCTCGGCGAAGAGCAGATCAGGCGTCACCATGCCCCATCCTGCCTCGGACTCGACCTCGGCTTGGGAGGCAGCGGCCACGACAGCCAGCAGTGTGGTCAGCAGCTTCAACGCGCGTACCGCCATCGCTCCCTCAGACCTAACGGAACCGCCAGCCACCCGCCACCAAGGCCGGAGTCCTACCCCCGGCGAAGGCCCGCCCCCGGGCGAAGCCCCACCTTCCAAGCCGGGCGGCGCATGCCCACGAGGCTTGCACCGCCTCTTTTCCTTTCAGTCAGCCCGGATCCCCCCACCGGCCCTCAGCGAATCCCGGCGCGTCAGCCGGAGCCCCGCCTCCGAGCTCAGGCCTTGCTCAGTCGAACTGACGCCCAGTAGACAAGAAAGACGGAAGCTCCGCCCACGCGCCTTTATGCGCAGGCTCTTCCTACTCGCACAGCCCAGGGAGTGGGGAGGATAAGGCGCTGTCATGGAGGACGCCGCCGCGCCGGGGCGGACCGAGGGGGTCCTTGAAAGGCAAGGAGCGCCGCCAGCTGCAGGCCAGGGAGGTATGCGGGGCGGGAGTCAGCAGGGGGAAGTCAGCTCCCGCGAGGCAGCCGGTCTCGGGGCTCCGCGGGAGGCCGACGGCGGGAGCTCACGGCTTGTGTTCCTGGGTGTGTGTCGCAGGAGCCCTGGTGGAGCTCACCCCGACCCCCGGCGGCCTGGCCCTGGTGAGCCCCTACCACACCCACCGGGCCGGGGACCCCTTAGACCTCGTGGCGCTCGCAGAGCAGGTGCAGAAGGTGAGGAGGCGCGGCCGGGGCAGCGAATAACCATCTTCGTTCACGTTGTACTCTGCGTCTTTCGGCTCAGACCTCACTACCACCTATGGTGGGGGTGGCATTTGCTCTTGTCTCCATTTTACAGACGAGTAAAGCCGACTGTCATTGTGAGTCGGTGGCCTGATTCGAATGACCTTCTGGGACCAAAGGTTCCTCTAACTGCAACTTGAGTGCCCATAATCTTCCTTCGTGGGAAGGTTTACACAACACTTTAGTGTTCATTATTTCATTTGCACCTTAGGACAGCCTTGTGAGGTAGGCAGTACAGAGTTATTCTTCCCATTTGACACAAAGAAAAGTTCTTCGGGAAGTTTCAAGGTCCGCTTATTTTAAGCTGCTTCCCATAAGATCTTTGTTACCTGAGAGTTTAAACATCTTCTAGCAGGGCAAGGACTCCAAGTTTAGTCCTCATTAAACACAGTATTCCCAAGCCCAGTGTTTATATATGGATGGCCAAAATAAGTCAAATAAGGAGGAAATGTGAAATAATGGAAAAAACACTGGAAGTTTGGACACATGAGTATTAATCCCACTTTTGATACTAACTTGCAGTGCGACTTAAGGCAGATTACTTCTCTCTGGACCTCAACTATTTTATCTGTGAAGTGAAAGGTTTGAAGTAGTAGAGCTCCAAGATCTAAAGTTTTGTCATTATTCAATGAAAAACCAGATTCCTTCTTATCTCTTATCAAGACTTCCAGTTGTACACCCTCTTCAGTGTCCACAGATGGAGGGTCCTGCTGTTTTAAAGATTATCATGGCCCCTTATCCCTGTATACACTATCAGATTTGGCCTTGATTATGTTCCAGGGTCTTTGCTTTGCCCAAAATTATTTAATGTGCTCAAATTCCCTCACATCTCTTTTTTTTTCAATGATCCTAGAAATCCTTCGAATCCTTTTTTTTTTAAAATTAAGAAAAATTCAGATACGCAGAAAGCTCCTTTAATTCAAAACTTGGCTTTCTTCTTTTTGAAGAGCTGGGGAGCAAAGTGCAACTTTTATTTATTAAGAGAATATGCATCTAGTTAATCAGATTACTCTTATTGGGAGGGAGGTTGGCAGGGACAGAATCTTGTGCACACAACGTATTCATGTGCTATTGAATGACTATCGTGTTTATT
|
TGCTAAGAAAACTTATTTTCTTATCATTGGTACTAGTAAAGGCACACTAAAGGAGTCAGCCCTGGTTAGGTGACCCAAGGTAAATAACTCCCCATCTCTGTACCTCAGTTTCTTTAACTGTAAAATTAGAAATTTTTTCAGGTCTGTCCCTTTCATGGAATTACTCTAGCTCTTGTGTCTTTCAGCGCTGCTCCTGCCTTTCTCTGTTCTCCCTCATGTCCTCACTCCTCTCTCCACCCCCAGCCTTCTTTACTCTCTAAGCACTGAGGTACTTAACCTCCTCTCTTGTGGACAAATGTCTGCCTCCTAATCAAGTGCCACCACTTTCTCCTTCTTCCAAGGCTCATTCACCATGGCTTCCAGAATAAGCGTTTTAAAACCCAAATCTGAGGATGGCTCCCTGCAGTCCGCAGAATTCTCTTCCAAATCTGGCCTCACTGACTTTTCTAGCCGCCTCTCCTACTACTCCCCACACACATCTCGACATTGCAATCACAAGAGTTCATTTTTTTTCCTGAATACATCATGCTTTGGTTCTACTTTTCTCTCTATCTGGAGGAGCCTTCTTTCCTCTCCCCCTGGCAATACTTAGGGCAGGCTTCAATATTACCTCTTCTTTGAAGTCTAATTTCTCTGAGATAAAGCTAGAGTCTCCCTCCTTTGTGCTCCCGCAGCCCTAAGTATATGCCCTTGCAGTAGCCCTTACTACAGTAACTCTTAACAGCAAAGCAAGACAAAGCAAAGACGTTAGTCGAGCATTTAATTACTTGTACAAGAACTGGAATGCAGTAGGTATGCAATACATGTTTGTCAAATAGTTTTAGAAAGTGCTATGATGAAGCGACATAACCAAAGACATAACGCAATTATTTTGATTTCAAGTCCAGCGCTCTTCCGAGTAACTAGGAAAAATGAGGGGAACTGTGTAGGCAGAATGCTGTGGAGGGGTGGAAATCTGAGGTCCCCAAGAGTCTCTAAGTGTCTCTTTAGATCGAATCGAAGGTCTTTTAAACAACAGATATACCAGATATAATGCACAACTCTTTCTCCCCCCACCCCCAATACAGTGGGACTAATAACAGCATCTACCTGACAAGATATTATGAAGATTAGGGCAAATGCGTTAATAAATGCAAACTGCTTAAAATAGTGCCTGGAAGTATGTGCTGGCTATCATCATCATCATCATCGTCACCATCACCACCACCAAACAAGCCTGGAACGCTCCAAGCCCAAGTGTACACTTGGACACATGGCACTCTGGCATTCCGAAAAATACTCATTTTCTTTGTAAACCTGGCAGACTAGCCAGAGGGTCCCCCCCCCGCCCCCACACACACACAGAAAGGGCCAGGCAGCCCCTGCTGGCGACGTGGCAACCTCACATCCTGAAAGAGAGCTGCTGAATCAAACAGCAGGAAAAGCACCACTGGAAAACCAACCGGAAGGGAGATATTGTAGACCGCTACTAGCTTCTCACTCGGACACTTACAATGACATCAGAATGGGAGACCCAAACTGCCGCTTTAATTCCTTCCAGGAGATTTCCCAGGGAACAAAATGGCCATGAGTTTTGCTTGGCCTGTGCCCTAACCCCAGGCTGGACCTTTGGGGTTAGCATCTGCCCATGCGAACTGGGCGAGGAAGGTCTCCTGCCAGGGAGCAGCTCTCCCCGGCTCCGAGGAGAGCTCCCCAGCCAGGAGGCCACTTTCCCCTCCCTGCGGACACTTCCCCGATCCCCCAAGCTCCTCAGGTCCCCTGCAACACTCCTCTCCCCAGAAGGACCCCGGCCGCCTGGTTCCAGGCAGGTCTGCACCTTGAAGTAGGCGACCTGCAGGTAGTTGTAGGGGCTCCGCTTGCGGAACTCCAGCTCCATCTCTTCGCTGAGCGAGTGGGCGGCCGGCGGCCCGAGGCAGCGGCGCAGGCAGGCAGCGCGACGCAGAAGGCCCCCGAAGAAGCTCAGGTCGCGCAGGGCGGCGGCGCCCGAGGCCTGGGCCGGGCTGGGGGACCAGTCGGGGTCCAGCTCCCACGGGAAGTCGGCGGCACACTGGTGCGGCAGCGCAGGCGAAGGGCGCGGAGGGCTGCCCGGGAGCGCAGCGCCCGTTCCATGCTCAGGACCACCCCGGGCCAGTCCCCGCGCGCGTAGGCTGCGGTCCCCTCGGCGAAGAGCAGATCAGGCGTCACCATGCCCCATCCTGCCTCGGACTCGACCTCGGCTTGGGAGGCAGCGGCCACGACAGCCAGCAGTGTGGTCAGCAGCTTCAACGCGCGTACCGCCATCGCTCCCTCAGACCTAACGGAACCGCCAGCCACCCGCCACCAAGGCCGGAGTCCTACCCCCGGCGAAGGCCCGCCCCCGGGCGAAGCCCCACCTTCCAAGCCGGGCGGCGCATGCCCACGAGGCTTGCACCGCCTCTTTTCCTTTCAGTCAGCCCGGATCCCCCCACCGGCCCTCAGCGAATCCCGGCGCGTCAGCCGGAGCCCCGCCTCCGAGCTCAGGCCTTGCTCAGTCGAACTGACGCCCAGTAGACAAGAAAGACGGAAGCTCCGCCCACGCGCCTTTATGCGCAGGCTCTTCCTACTCGCACAGCCCAGGGAGTGGGGAGGATAAGGCGCTGTCATGGAGGACGCCGCCGCGCCGGGGCGGACCGAGGGGGTCCTTGAAAGGCAAGGAGCGCCGCCAGCTGCAGGCCAGGGAGGTATGCGGGGCGGGAGTCAGCAGGGGGAAGTCAGCTCCCGCGAGGCAGCCGGTCTCGGGGCTCCGCGGGAGGCCGACGGCGGGAGCTCACGGCTTGTGTTCCTGGGTGTGTGTCGCAGGAGCCCTGGTGGAGCTCACCCCGACCCCCGGCGGCCTGGCCCTGGTGAGCCCCTACCACACCCACCGGGCCGGGGACCCCTTAGACCTCGTGGCGCTCGCAGAGCAGGTGCAGAAGGTGAGGAGGCGCGGCCGGGGCAGCGAATAACCATCTTCGTTCACGTTGTACTCTGCGTCTTTCGGCTCAGACCTCACTACCACCTATGGTGGGGGTGGCATTTGCTCTTGTCTCCATTTTACAGACGAGTAAAGCCGACTGTCATTGTGAGTCGGTGGCCTGATTCGAATGACCTTCTGGGACCAAAGGTTCCTCTAACTGCAACTTGAGTGCCCATAATCTTCCTTCGTGGGAAGGTTTACACAACACTTTAGTGTTCATTATTTCATTTGCACCTTAGGACAGCCTTGTGAGGTAGGCAGTACAGAGTTATTCTTCCCATTTGACACAAAGAAAAGTTCTTCGGGAAGTTTCAAGGTCCGCTTATTTTAAGCTGCTTCCCATAAGATCTTTGTTACCTGAGAGTTTAAACATCTTCTAGCAGGGCAAGGACTCCAAGTTTAGTCCTCATTAAACACAGTATTCCCAAGCCCAGTGTTTATATATGGATGGCCAAAATAAGTCAAATAAGGAGGAAATGTGAAATAATGGAAAAAACACTGGAAGTTTGGACACATGAGTATTAATCCCACTTTTGATACTAACTTGCAGTGCGACTTAAGGCAGATTACTTCTCTCTGGACCTCAACTATTTTATCTGTGAAGTGAAAGGTTTGAAGTAGTAGAGCTCCAAGATCTAAAGTTTTGTCATTATTCAATGAAAAACCAGATTCCTTCTTATCTCTTATCAAGACTTCCAGTTGTACACCCTCTTCAGTGTCCACAGATGGAGGGTCCTGCTGTTTTAAAGATTATCATGGCCCCTTATCCCTGTATACACTATCAGATTTGGCCTTGATTATGTTCCAGGGTCTTTGCTTTGCCCAAAATTATTTAATGTGCTCAAATTCCCTCACATCTCTTTTTTTTTCAATGATCCTAGAAATCCTTCGAATCCTTTTTTTTTTAAAATTAAGAAAAATTCAGATACGCAGAAAGCTCCTTTAATTCAAAACTTGGCTTTCTTCTTTTTGAAGAGCTGGGGAGCAAAGTGCAACTTTTATTTATTAAGAGAATATGCATCTAGTTAATCAGATTACTCTTATTGGGAGGGAGGTTGGCAGGGACAGAATCTTGTGCACACAACGTATTCATGTGCTATTGAATGACTATCGTGTTTATTN
|
pathogenic
| 7,425 |
The genetic variant at chromosome 1, position 42766851, affecting gene P3H1 (prolyl 3-hydroxylase 1): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Osteogenesis_imperfecta_type_8']
|
TTTAACTGTAAAATTAGAAATTTTTTCAGGTCTGTCCCTTTCATGGAATTACTCTAGCTCTTGTGTCTTTCAGCGCTGCTCCTGCCTTTCTCTGTTCTCCCTCATGTCCTCACTCCTCTCTCCACCCCCAGCCTTCTTTACTCTCTAAGCACTGAGGTACTTAACCTCCTCTCTTGTGGACAAATGTCTGCCTCCTAATCAAGTGCCACCACTTTCTCCTTCTTCCAAGGCTCATTCACCATGGCTTCCAGAATAAGCGTTTTAAAACCCAAATCTGAGGATGGCTCCCTGCAGTCCGCAGAATTCTCTTCCAAATCTGGCCTCACTGACTTTTCTAGCCGCCTCTCCTACTACTCCCCACACACATCTCGACATTGCAATCACAAGAGTTCATTTTTTTTCCTGAATACATCATGCTTTGGTTCTACTTTTCTCTCTATCTGGAGGAGCCTTCTTTCCTCTCCCCCTGGCAATACTTAGGGCAGGCTTCAATATTACCTCTTCTTTGAAGTCTAATTTCTCTGAGATAAAGCTAGAGTCTCCCTCCTTTGTGCTCCCGCAGCCCTAAGTATATGCCCTTGCAGTAGCCCTTACTACAGTAACTCTTAACAGCAAAGCAAGACAAAGCAAAGACGTTAGTCGAGCATTTAATTACTTGTACAAGAACTGGAATGCAGTAGGTATGCAATACATGTTTGTCAAATAGTTTTAGAAAGTGCTATGATGAAGCGACATAACCAAAGACATAACGCAATTATTTTGATTTCAAGTCCAGCGCTCTTCCGAGTAACTAGGAAAAATGAGGGGAACTGTGTAGGCAGAATGCTGTGGAGGGGTGGAAATCTGAGGTCCCCAAGAGTCTCTAAGTGTCTCTTTAGATCGAATCGAAGGTCTTTTAAACAACAGATATACCAGATATAATGCACAACTCTTTCTCCCCCCACCCCCAATACAGTGGGACTAATAACAGCATCTACCTGACAAGATATTATGAAGATTAGGGCAAATGCGTTAATAAATGCAAACTGCTTAAAATAGTGCCTGGAAGTATGTGCTGGCTATCATCATCATCATCATCGTCACCATCACCACCACCAAACAAGCCTGGAACGCTCCAAGCCCAAGTGTACACTTGGACACATGGCACTCTGGCATTCCGAAAAATACTCATTTTCTTTGTAAACCTGGCAGACTAGCCAGAGGGTCCCCCCCCCGCCCCCACACACACACAGAAAGGGCCAGGCAGCCCCTGCTGGCGACGTGGCAACCTCACATCCTGAAAGAGAGCTGCTGAATCAAACAGCAGGAAAAGCACCACTGGAAAACCAACCGGAAGGGAGATATTGTAGACCGCTACTAGCTTCTCACTCGGACACTTACAATGACATCAGAATGGGAGACCCAAACTGCCGCTTTAATTCCTTCCAGGAGATTTCCCAGGGAACAAAATGGCCATGAGTTTTGCTTGGCCTGTGCCCTAACCCCAGGCTGGACCTTTGGGGTTAGCATCTGCCCATGCGAACTGGGCGAGGAAGGTCTCCTGCCAGGGAGCAGCTCTCCCCGGCTCCGAGGAGAGCTCCCCAGCCAGGAGGCCACTTTCCCCTCCCTGCGGACACTTCCCCGATCCCCCAAGCTCCTCAGGTCCCCTGCAACACTCCTCTCCCCAGAAGGACCCCGGCCGCCTGGTTCCAGGCAGGTCTGCACCTTGAAGTAGGCGACCTGCAGGTAGTTGTAGGGGCTCCGCTTGCGGAACTCCAGCTCCATCTCTTCGCTGAGCGAGTGGGCGGCCGGCGGCCCGAGGCAGCGGCGCAGGCAGGCAGCGCGACGCAGAAGGCCCCCGAAGAAGCTCAGGTCGCGCAGGGCGGCGGCGCCCGAGGCCTGGGCCGGGCTGGGGGACCAGTCGGGGTCCAGCTCCCACGGGAAGTCGGCGGCACACTGGGTGCGGCAGCGCAGGCGAAGGGCGCGGAGGGCTGCCCGGGAGCGCAGCGCCCGTTCCATGCTCAGGACCACCCCGGGCCAGTCCCCGCGCGCGTAGGCTGCGGTCCCCTCGGCGAAGAGCAGATCAGGCGTCACCATGCCCCATCCTGCCTCGGACTCGACCTCGGCTTGGGAGGCAGCGGCCACGACAGCCAGCAGTGTGGTCAGCAGCTTCAACGCGCGTACCGCCATCGCTCCCTCAGACCTAACGGAACCGCCAGCCACCCGCCACCAAGGCCGGAGTCCTACCCCCGGCGAAGGCCCGCCCCCGGGCGAAGCCCCACCTTCCAAGCCGGGCGGCGCATGCCCACGAGGCTTGCACCGCCTCTTTTCCTTTCAGTCAGCCCGGATCCCCCCACCGGCCCTCAGCGAATCCCGGCGCGTCAGCCGGAGCCCCGCCTCCGAGCTCAGGCCTTGCTCAGTCGAACTGACGCCCAGTAGACAAGAAAGACGGAAGCTCCGCCCACGCGCCTTTATGCGCAGGCTCTTCCTACTCGCACAGCCCAGGGAGTGGGGAGGATAAGGCGCTGTCATGGAGGACGCCGCCGCGCCGGGGCGGACCGAGGGGGTCCTTGAAAGGCAAGGAGCGCCGCCAGCTGCAGGCCAGGGAGGTATGCGGGGCGGGAGTCAGCAGGGGGAAGTCAGCTCCCGCGAGGCAGCCGGTCTCGGGGCTCCGCGGGAGGCCGACGGCGGGAGCTCACGGCTTGTGTTCCTGGGTGTGTGTCGCAGGAGCCCTGGTGGAGCTCACCCCGACCCCCGGCGGCCTGGCCCTGGTGAGCCCCTACCACACCCACCGGGCCGGGGACCCCTTAGACCTCGTGGCGCTCGCAGAGCAGGTGCAGAAGGTGAGGAGGCGCGGCCGGGGCAGCGAATAACCATCTTCGTTCACGTTGTACTCTGCGTCTTTCGGCTCAGACCTCACTACCACCTATGGTGGGGGTGGCATTTGCTCTTGTCTCCATTTTACAGACGAGTAAAGCCGACTGTCATTGTGAGTCGGTGGCCTGATTCGAATGACCTTCTGGGACCAAAGGTTCCTCTAACTGCAACTTGAGTGCCCATAATCTTCCTTCGTGGGAAGGTTTACACAACACTTTAGTGTTCATTATTTCATTTGCACCTTAGGACAGCCTTGTGAGGTAGGCAGTACAGAGTTATTCTTCCCATTTGACACAAAGAAAAGTTCTTCGGGAAGTTTCAAGGTCCGCTTATTTTAAGCTGCTTCCCATAAGATCTTTGTTACCTGAGAGTTTAAACATCTTCTAGCAGGGCAAGGACTCCAAGTTTAGTCCTCATTAAACACAGTATTCCCAAGCCCAGTGTTTATATATGGATGGCCAAAATAAGTCAAATAAGGAGGAAATGTGAAATAATGGAAAAAACACTGGAAGTTTGGACACATGAGTATTAATCCCACTTTTGATACTAACTTGCAGTGCGACTTAAGGCAGATTACTTCTCTCTGGACCTCAACTATTTTATCTGTGAAGTGAAAGGTTTGAAGTAGTAGAGCTCCAAGATCTAAAGTTTTGTCATTATTCAATGAAAAACCAGATTCCTTCTTATCTCTTATCAAGACTTCCAGTTGTACACCCTCTTCAGTGTCCACAGATGGAGGGTCCTGCTGTTTTAAAGATTATCATGGCCCCTTATCCCTGTATACACTATCAGATTTGGCCTTGATTATGTTCCAGGGTCTTTGCTTTGCCCAAAATTATTTAATGTGCTCAAATTCCCTCACATCTCTTTTTTTTTCAATGATCCTAGAAATCCTTCGAATCCTTTTTTTTTTAAAATTAAGAAAAATTCAGATACGCAGAAAGCTCCTTTAATTCAAAACTTGGCTTTCTTCTTTTTGAAGAGCTGGGGAGCAAAGTGCAACTTTTATTTATTAAGAGAATATGCATCTAGTTAATCAGATTACTCTTATTGGGAGGGAGGTTGGCAGGGACAGAATCTTGTGCACACAACGTATTCATGTGCTATTGAATGACTATCGTGTTTATTACGATGGCCTGAACAGATGGAAGAAAGAACACAGTTTTTGTCTTTCATCCTATAATCTTATGAAATACAGAGGATGCATTATTATGCTGCCTCTGTTTCCCCAATACAATCT
|
TTTAACTGTAAAATTAGAAATTTTTTCAGGTCTGTCCCTTTCATGGAATTACTCTAGCTCTTGTGTCTTTCAGCGCTGCTCCTGCCTTTCTCTGTTCTCCCTCATGTCCTCACTCCTCTCTCCACCCCCAGCCTTCTTTACTCTCTAAGCACTGAGGTACTTAACCTCCTCTCTTGTGGACAAATGTCTGCCTCCTAATCAAGTGCCACCACTTTCTCCTTCTTCCAAGGCTCATTCACCATGGCTTCCAGAATAAGCGTTTTAAAACCCAAATCTGAGGATGGCTCCCTGCAGTCCGCAGAATTCTCTTCCAAATCTGGCCTCACTGACTTTTCTAGCCGCCTCTCCTACTACTCCCCACACACATCTCGACATTGCAATCACAAGAGTTCATTTTTTTTCCTGAATACATCATGCTTTGGTTCTACTTTTCTCTCTATCTGGAGGAGCCTTCTTTCCTCTCCCCCTGGCAATACTTAGGGCAGGCTTCAATATTACCTCTTCTTTGAAGTCTAATTTCTCTGAGATAAAGCTAGAGTCTCCCTCCTTTGTGCTCCCGCAGCCCTAAGTATATGCCCTTGCAGTAGCCCTTACTACAGTAACTCTTAACAGCAAAGCAAGACAAAGCAAAGACGTTAGTCGAGCATTTAATTACTTGTACAAGAACTGGAATGCAGTAGGTATGCAATACATGTTTGTCAAATAGTTTTAGAAAGTGCTATGATGAAGCGACATAACCAAAGACATAACGCAATTATTTTGATTTCAAGTCCAGCGCTCTTCCGAGTAACTAGGAAAAATGAGGGGAACTGTGTAGGCAGAATGCTGTGGAGGGGTGGAAATCTGAGGTCCCCAAGAGTCTCTAAGTGTCTCTTTAGATCGAATCGAAGGTCTTTTAAACAACAGATATACCAGATATAATGCACAACTCTTTCTCCCCCCACCCCCAATACAGTGGGACTAATAACAGCATCTACCTGACAAGATATTATGAAGATTAGGGCAAATGCGTTAATAAATGCAAACTGCTTAAAATAGTGCCTGGAAGTATGTGCTGGCTATCATCATCATCATCATCGTCACCATCACCACCACCAAACAAGCCTGGAACGCTCCAAGCCCAAGTGTACACTTGGACACATGGCACTCTGGCATTCCGAAAAATACTCATTTTCTTTGTAAACCTGGCAGACTAGCCAGAGGGTCCCCCCCCCGCCCCCACACACACACAGAAAGGGCCAGGCAGCCCCTGCTGGCGACGTGGCAACCTCACATCCTGAAAGAGAGCTGCTGAATCAAACAGCAGGAAAAGCACCACTGGAAAACCAACCGGAAGGGAGATATTGTAGACCGCTACTAGCTTCTCACTCGGACACTTACAATGACATCAGAATGGGAGACCCAAACTGCCGCTTTAATTCCTTCCAGGAGATTTCCCAGGGAACAAAATGGCCATGAGTTTTGCTTGGCCTGTGCCCTAACCCCAGGCTGGACCTTTGGGGTTAGCATCTGCCCATGCGAACTGGGCGAGGAAGGTCTCCTGCCAGGGAGCAGCTCTCCCCGGCTCCGAGGAGAGCTCCCCAGCCAGGAGGCCACTTTCCCCTCCCTGCGGACACTTCCCCGATCCCCCAAGCTCCTCAGGTCCCCTGCAACACTCCTCTCCCCAGAAGGACCCCGGCCGCCTGGTTCCAGGCAGGTCTGCACCTTGAAGTAGGCGACCTGCAGGTAGTTGTAGGGGCTCCGCTTGCGGAACTCCAGCTCCATCTCTTCGCTGAGCGAGTGGGCGGCCGGCGGCCCGAGGCAGCGGCGCAGGCAGGCAGCGCGACGCAGAAGGCCCCCGAAGAAGCTCAGGTCGCGCAGGGCGGCGGCGCCCGAGGCCTGGGCCGGGCTGGGGGACCAGTCGGGGTCCAGCTCCCACGGGAAGTCGGCGGCACACTGGGTGCGGCAGCGCAGGCGAAGGGCGCGGAGGGCTGCCCGGGAGCGCAGCGCCCGTTCCATGCTCAGGACCACCCCGGGCCAGTCCCCGCGCGCGTAGGCTGCGGTCCCCTCGGCGTCACCATGCCCCATCCTGCCTCGGACTCGACCTCGGCTTGGGAGGCAGCGGCCACGACAGCCAGCAGTGTGGTCAGCAGCTTCAACGCGCGTACCGCCATCGCTCCCTCAGACCTAACGGAACCGCCAGCCACCCGCCACCAAGGCCGGAGTCCTACCCCCGGCGAAGGCCCGCCCCCGGGCGAAGCCCCACCTTCCAAGCCGGGCGGCGCATGCCCACGAGGCTTGCACCGCCTCTTTTCCTTTCAGTCAGCCCGGATCCCCCCACCGGCCCTCAGCGAATCCCGGCGCGTCAGCCGGAGCCCCGCCTCCGAGCTCAGGCCTTGCTCAGTCGAACTGACGCCCAGTAGACAAGAAAGACGGAAGCTCCGCCCACGCGCCTTTATGCGCAGGCTCTTCCTACTCGCACAGCCCAGGGAGTGGGGAGGATAAGGCGCTGTCATGGAGGACGCCGCCGCGCCGGGGCGGACCGAGGGGGTCCTTGAAAGGCAAGGAGCGCCGCCAGCTGCAGGCCAGGGAGGTATGCGGGGCGGGAGTCAGCAGGGGGAAGTCAGCTCCCGCGAGGCAGCCGGTCTCGGGGCTCCGCGGGAGGCCGACGGCGGGAGCTCACGGCTTGTGTTCCTGGGTGTGTGTCGCAGGAGCCCTGGTGGAGCTCACCCCGACCCCCGGCGGCCTGGCCCTGGTGAGCCCCTACCACACCCACCGGGCCGGGGACCCCTTAGACCTCGTGGCGCTCGCAGAGCAGGTGCAGAAGGTGAGGAGGCGCGGCCGGGGCAGCGAATAACCATCTTCGTTCACGTTGTACTCTGCGTCTTTCGGCTCAGACCTCACTACCACCTATGGTGGGGGTGGCATTTGCTCTTGTCTCCATTTTACAGACGAGTAAAGCCGACTGTCATTGTGAGTCGGTGGCCTGATTCGAATGACCTTCTGGGACCAAAGGTTCCTCTAACTGCAACTTGAGTGCCCATAATCTTCCTTCGTGGGAAGGTTTACACAACACTTTAGTGTTCATTATTTCATTTGCACCTTAGGACAGCCTTGTGAGGTAGGCAGTACAGAGTTATTCTTCCCATTTGACACAAAGAAAAGTTCTTCGGGAAGTTTCAAGGTCCGCTTATTTTAAGCTGCTTCCCATAAGATCTTTGTTACCTGAGAGTTTAAACATCTTCTAGCAGGGCAAGGACTCCAAGTTTAGTCCTCATTAAACACAGTATTCCCAAGCCCAGTGTTTATATATGGATGGCCAAAATAAGTCAAATAAGGAGGAAATGTGAAATAATGGAAAAAACACTGGAAGTTTGGACACATGAGTATTAATCCCACTTTTGATACTAACTTGCAGTGCGACTTAAGGCAGATTACTTCTCTCTGGACCTCAACTATTTTATCTGTGAAGTGAAAGGTTTGAAGTAGTAGAGCTCCAAGATCTAAAGTTTTGTCATTATTCAATGAAAAACCAGATTCCTTCTTATCTCTTATCAAGACTTCCAGTTGTACACCCTCTTCAGTGTCCACAGATGGAGGGTCCTGCTGTTTTAAAGATTATCATGGCCCCTTATCCCTGTATACACTATCAGATTTGGCCTTGATTATGTTCCAGGGTCTTTGCTTTGCCCAAAATTATTTAATGTGCTCAAATTCCCTCACATCTCTTTTTTTTTCAATGATCCTAGAAATCCTTCGAATCCTTTTTTTTTTAAAATTAAGAAAAATTCAGATACGCAGAAAGCTCCTTTAATTCAAAACTTGGCTTTCTTCTTTTTGAAGAGCTGGGGAGCAAAGTGCAACTTTTATTTATTAAGAGAATATGCATCTAGTTAATCAGATTACTCTTATTGGGAGGGAGGTTGGCAGGGACAGAATCTTGTGCACACAACGTATTCATGTGCTATTGAATGACTATCGTGTTTATTACGATGGCCTGAACAGATGGAAGAAAGAACACAGTTTTTGTCTTTCATCCTATAATCTTATGAAATACAGAGGATGCATTATTATGCTGCCTCTGTTTCCCCAATACAATCTNNNNNNNNNNNNNNNN
|
pathogenic
| 7,426 |
Determine whether the variant at chromosome 1, position 42927211, in gene SLC2A1 (solute carrier family 2 member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Encephalopathy_due_to_GLUT1_deficiency', 'Hereditary_cryohydrocytosis_with_reduced_stomatin', 'Inborn_genetic_diseases']
|
TCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATCTTCTCATGAAATTCAGACTAGTGGCAGAAAACTGGACTTGTGATGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCA
|
TCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATCTTCTCATGAAATTCAGACTAGTGGCAGAAAACTGGACTTGTGATGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCANNN
|
pathogenic
| 7,447 |
Is the genetic mutation found on chromosome 1 at position 42927574, within the gene SLC2A1 (solute carrier family 2 member 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
TGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACA
|
TGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGAAATGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGC
|
benign
| 7,452 |
A mutation at chromosome position 42927592 on chromosome 1 in gene SLC2A1 (solute carrier family 2 member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
GCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGA
|
GCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGAN
|
benign
| 7,453 |
Regarding the variant found on chromosome 1 at position 42929242 in gene SLC2A1 (solute carrier family 2 member 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive']
|
AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
|
AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCC
|
pathogenic
| 7,488 |
Variant on chromosome 1, at position 42929605, affecting SLC2A1 (solute carrier family 2 member 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Childhood_onset_GLUT1_deficiency_syndrome_2', 'Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive']
|
TGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACC
|
TGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCNNNNNNNNNNNN
|
pathogenic
| 7,497 |
Gene mutation in SLC2A1 (solute carrier family 2 member 1) at chromosome 1, position 42929716—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Childhood_onset_GLUT1_deficiency_syndrome_2', 'Encephalopathy_due_to_GLUT1_deficiency']
|
GGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTT
|
GGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTNN
|
pathogenic
| 7,510 |
For chromosome 1, position 42929719, gene SLC2A1 (solute carrier family 2 member 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive']
|
AATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGC
|
AATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCNNNN
|
pathogenic
| 7,511 |
Mutation at chromosome 1, position 42929720, within SLC2A1 (solute carrier family 2 member 1): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Childhood_onset_GLUT1_deficiency_syndrome_2', 'Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive', 'Global_developmental_delay', 'Seizure', 'Strabismus']
|
ATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCA
|
ATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCANNNN
|
pathogenic
| 7,512 |
Subsets and Splits
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