question
stringlengths 84
268
| answer
stringlengths 6
879
| reference_sequence
stringlengths 4.1k
4.1k
| mutated_sequence
stringlengths 4.1k
4.1k
| cleaned_pathogenicity
stringclasses 2
values | __index_level_0__
int64 67
343k
|
|---|---|---|---|---|---|
Regarding the variant at chromosome 22 and position 50626006, affecting gene ARSA (arylsulfatase A): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
CTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGG
|
CTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGN
|
pathogenic
| 328,996 |
Evaluate this variant at chromosome 22, position 50626150, gene ARSA (arylsulfatase A): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
TCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGG
|
TCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGNNNN
|
pathogenic
| 329,004 |
Considering the variant on chromosome 22, location 50626203, involving gene ARSA (arylsulfatase A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
ACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCG
|
ACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGN
|
pathogenic
| 329,011 |
Benign or pathogenic: chromosome 22, position 50626237, gene ARSA (arylsulfatase A) variant? Disease(s) if pathogenic?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
AGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGC
|
AGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCNNNNN
|
pathogenic
| 329,018 |
Clinical classification of chromosome 22, position 50626686, gene ARSA (arylsulfatase A): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
TGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTT
|
TGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTT
|
pathogenic
| 329,035 |
Regarding the variant at chromosome 22 and position 50626895, affecting gene ARSA (arylsulfatase A): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
AAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAG
|
AAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGN
|
pathogenic
| 329,049 |
Is the genetic mutation found on chromosome 22 at position 50626934, within the gene ARSA (arylsulfatase A), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Metachromatic_leukodystrophy']
|
TCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGT
|
TCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTN
|
pathogenic
| 329,053 |
Is the variant located on chromosome 22 at position 50626935, gene ARSA (arylsulfatase A), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Metachromatic_leukodystrophy']
|
CAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTG
|
CAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGT
|
pathogenic
| 329,054 |
Assess the variant on chromosome 22, position 50626935, impacting ARSA (arylsulfatase A): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Metachromatic_leukodystrophy']
|
CAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTG
|
CAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGN
|
pathogenic
| 329,055 |
Regarding the variant at chromosome 22 and position 50626972, affecting gene ARSA (arylsulfatase A): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
TGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTG
|
TGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGN
|
pathogenic
| 329,058 |
Located at chromosome 22 position 50626975, the variant affecting gene ARSA (arylsulfatase A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
ACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGG
|
ACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGAATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTG
|
pathogenic
| 329,059 |
Does the chromosome 22 mutation at position 50627016 within gene ARSA (arylsulfatase A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Metachromatic_leukodystrophy']
|
ACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTC
|
ACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCNNNNNNN
|
pathogenic
| 329,062 |
A genetic variant at chromosome 22, position 50627212, affecting gene ARSA (arylsulfatase A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Inborn_genetic_diseases', 'Metachromatic_leukodystrophy']
|
CAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAA
|
CAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGA
|
pathogenic
| 329,073 |
Chromosome 22, position 50627326, gene ARSA (arylsulfatase A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Metachromatic_leukodystrophy', 'Metachromatic_leukodystrophy,_late_infantile_form']
|
GCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTC
|
GCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCN
|
pathogenic
| 329,081 |
Variant in ARSA (arylsulfatase A), chromosome 22, position 50627328—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTG
|
CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCT
|
pathogenic
| 329,082 |
Clinical classification of chromosome 22, position 50627328, gene ARSA (arylsulfatase A): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTG
|
CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGAACCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTG
|
pathogenic
| 329,083 |
Gene ARSA (arylsulfatase A) variant at chromosome 22, position 50627328—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTG
|
CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGN
|
pathogenic
| 329,084 |
Is chromosome 22, position 50627335, gene ARSA (arylsulfatase A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
AGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTT
|
AGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCT
|
pathogenic
| 329,087 |
A genetic variant on chromosome 22, position 50627386, affects the gene ARSA (arylsulfatase A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
CCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACC
|
CCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCN
|
pathogenic
| 329,091 |
A genetic variant on chromosome 22, position 50627390, affects the gene ARSA (arylsulfatase A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
CCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTG
|
CCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGT
|
pathogenic
| 329,094 |
Does the variant impacting ARSA (arylsulfatase A) on chromosome 22, position 50627567, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
ATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAG
|
ATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGNN
|
pathogenic
| 329,097 |
The genetic variant at chromosome 22, position 50627579, affecting gene ARSA (arylsulfatase A): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
GGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATC
|
GGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCN
|
pathogenic
| 329,099 |
A genetic variant at chromosome 22, position 50627584, affecting gene ARSA (arylsulfatase A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Metachromatic_leukodystrophy']
|
GGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCT
|
GGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTN
|
pathogenic
| 329,100 |
Evaluate this variant at chromosome 22, position 50627593, gene ARSA (arylsulfatase A): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
AGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTGGTTCTCCC
|
AGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTGGTTCTCCCNN
|
pathogenic
| 329,101 |
Variant on chromosome 22, at position 50627663, affecting ARSA (arylsulfatase A): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Metachromatic_leukodystrophy']
|
GCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTGGTTCTCCCTGTGTGCATGAATAAATCTGTATGCCTTTTTTCTTACTAACCTGGCTTTTGTCAGTTGATTTTCTGTGAA
|
GCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTGGTTCTCCCTGTGTGCATGAATAAATCTGTATGCCTTTTTTCTTACTAACCTGGCTTTTGTCAGTTGATTTTCTGTGAANNNNNNNN
|
pathogenic
| 329,103 |
Variant in ARSA (arylsulfatase A), chromosome 22, position 50627745—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
GGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTGGTTCTCCCTGTGTGCATGAATAAATCTGTATGCCTTTTTTCTTACTAACCTGGCTTTTGTCAGTTGATTTTCTGTGAACTCAGAATGCAGAAAAGTTTTTCTCTAGGCTCCTACAGTTTTGGTGCAGTCGGTAGGATAACTAAAGTCACTCTCCTGGGAG
|
GGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTGGTTCTCCCTGTGTGCATGAATAAATCTGTATGCCTTTTTTCTTACTAACCTGGCTTTTGTCAGTTGATTTTCTGTGAACTCAGAATGCAGAAAAGTTTTTCTCTAGGCTCCTACAGTTTTGGTGCAGTCGGTAGGATAACTAAAGTCACTCTCCTGGGAGN
|
pathogenic
| 329,104 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 50627766, gene ARSA (arylsulfatase A): what disease(s) if pathogenic?
|
pathogenic; ['Metachromatic_leukodystrophy']
|
CCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTGGTTCTCCCTGTGTGCATGAATAAATCTGTATGCCTTTTTTCTTACTAACCTGGCTTTTGTCAGTTGATTTTCTGTGAACTCAGAATGCAGAAAAGTTTTTCTCTAGGCTCCTACAGTTTTGGTGCAGTCGGTAGGATAACTAAAGTCACTCTCCTGGGAGCCTCCGTCAGGGGAACCCAGG
|
CCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTGGTTCTCCCTGTGTGCATGAATAAATCTGTATGCCTTTTTTCTTACTAACCTGGCTTTTGTCAGTTGATTTTCTGTGAACTCAGAATGCAGAAAAGTTTTTCTCTAGGCTCCTACAGTTTTGGTGCAGTCGGTAGGATAACTAAAGTCACTCTCCTGGGAGCCTCCGTCAGGGGAACCCAGGN
|
pathogenic
| 329,105 |
Is the variant located on chromosome 22 at position 50697269, gene SHANK3 (SH3 and multiple ankyrin repeat domains 3), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
GGACAGGCACATGCACGCTGATTTCCGGTTGGAGCTGGGCTTGCCATGAGGACAGTGGGCAGTTGAGGGAGCGTGTTAGGTGGAGAGGGTATGCTCCTACCTGTGATTTAGAAAACACACTGCATTGTCAGGCATGGCTGGGAAGAGTCAGGGCTGGTGGCCTGTGGTAAGGGGGACAGGGATGGAGTTGCCACTCCAGTAGGGCCCAAAACCTACAGGTAAGCCCCAGCCCTGTCCCCAGGGTATACTCATGGTTTCCCCCAGCCCTGGCACACCTACAGGACTCTGTGGCTTCTATTCTTTACCCTCACCCTGAGGCCTGGGTCCCTGAGGCAGGGATGCCTGGACCGGAGCCCACTGGCCTCTCTGGGCTGTGCATTGGGTGCTGAGGTGGGCGCACTGGCTCTCAGCCACTTTGTGCCTGGGCTTCTCATCAGTAAGTGGGAATAGTCCTACCTAAGTCATTGTCTTTGGGAAGCCTTCCAGAATGCCCTGGGCAGGTGAGGGATCACCTGGCAGAGTCTGGCAACTGCCGGTAAAAGCACCTGCCCTCCCTGTGCCTTGAAGGCAGGCACCGTCTTTGTCGTTTCCTAGTTTCATCAGAGCCAGGCACTGAGGAGGGTGTTTGGCAGACATTGTTGAGTGGAAGAGTTACATAAACAGTATGTTGTTGTCAGGATGGCCGCCGGCCTTTACAGTTCTGTCAGTCCAGGCCCGCTGTTGGGCTGAATGGCATGTGTATACTAGCTCCTTTAACCTTGACGAACGTACATGTTCATGCTCTATTAATACCATGTTACAGATGAGCGTCCTGGTACGCAGGTGGGGCCTGTGACGGGTCCAGAGTCACAGAGCTACGGATCAGCTTCACTGGGCCCCAGGTAGACCCAATCCCCAACTTTCTAAGCCTGAGTGTTCAGCAGAGGGCTCAGGGTGCAGCAGGGCCTATGGAAGGCGCCCCTTCCTGTGCTGCCGCCCCTGCTCTGCAGCCTGGTCTCAGCGATGTCTCCGTGTCTGTCTTTGCCTGGGCTTGTTGGACTCGCAAGGCTGGCTGTACTGCCCCAAATCTCAATTCTCCCCTGAAGCTTTCTTATAGACCCGCGGATTTTCTAAGGGCTGGGCGGCCCAGTGGCTGAAAGAACACATTCTGCATTCCGGATGTTTCCATCCCGCAGAAAGGCTGCTCCTGAGTTGGAGGCACGCGTTGCCACAGGCTCCTCCCTGCATTCATTTTTTGTACGTGTTCATTCATCCTTTCAGCAGACACAAAACTAAGACCTGCTGTGTGAGGGGCTCCAGCTCACCTGCTCTGTGGGGATGGCAGAATTCTGTTTTTTCCTTCCTCGCAAACATTTATTGGGTGCCTGGTGCGTCAGAGGTGGTGGGTCTCAGGAAGTTGACAGCCGAGGGCCCGGGCTAAGCAGCAGTTAGGTGGGCAGTGATCCCCTTATGGGGCTGCCCTGGTGAGTGGACAAGGGTCTGCAGCTCTCGGGAGGGGCTGAGGAAGTTCGGTGCCCCGAGGAGAGAAGTCACCCCCTGGGGGAGGCGAGGCTGGGCCCTGCACCGCGCGGGTCGCTGCGCCCTCTGTCGGTTGAGCCGGACCGGGACCCGACCCCCATCAGCCCCCCAGTATCACACGGGGCACGGCGGGGGAGTTTGGGCTGAGAGCCCGTCACTTAACAGCTGGCCCAGGGGTCAGGATGTTAGAGTAGTTCAGGTGTTGGCAACTGCGTGACGGACAGCCCACAGGAGGGGAAGGAGAGGTGCCCCGTGTGACTAGAGCGTAGCAAACTGCCAAGCCCGAGGGAGCCTGGCTCTTGGAAAAGCGGGTGGCTCTGGCCTGCCTGGGTACTAGGGAGCCACTGCAGGCTTCTGAGCAGAGCCCCAGTGGAGGAGTGAGAGCTCAGGCTCTACCCCAGTCTGGGAGTGGTCTGGGGAAGGTGGGCATCACGCAGTGGGCGTGGGCAGGGGCCGGTGTCCAGGACGAGGGGACCCAGGCCTAGAGGGGGACTGGGCACCCAGCGATCCGGGCCCTGGACCTGGAGGGGTGGGGGGGGCGCCCCTCCCTCCCGTTCACCGGCTCCAGGCGGCTTTGCTGGTGCCCGAAGCCCCCGCCCCATCCCCCGCTCCCACTAGGCTGCCCTGACCACCGTCCCGCGTCCGCGTCCGAACTCCCCCTCCCGGGGGTCGGCGGCGAGGGGAGGGCGGGAGGGAGGGCGCGAGGGCCGCCACCACCGCCCGCAGAGGGAGGAGCCCGGCCGTGGAGGAGGCGGGGCGCGGGGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCCCCGGGGCCCGAAGCGGAAACTTTACAGCGCCGTCCCCGGCCGCAAGTTCATCGCCGTGAAGGCGCACAGCCCGCAGGGTGAAGGCGAGATCCCGCTGCACCGCGGCGAGGCCGTGAAGGGTGAGGGGCGCGGGGGGGCGCGGGGGGGCGGGCCCGGCGCGGGGAGGGGGCGGCGCCGCGCGCGGTGCTGGCCGGGCCGGGGCAGTGGCTCTGGGGTCTCCTCTGCCGGGGCGGCCCTGGGCCCTTGTGGGATCCCTGGTGTCACGGTGAAGGGCTCTGCCTGGGGAAGGTTCCTGCCGTGCGGGTCCCTCCGGTGCTCTGTCGTTCCGGGCTCCCTGTGTCACCACGGAGGCTCCTCTCTCGCCACGGGCGTTTCTGTGTCCCCGGGGGTCTCTGCCTGAAGGACCCTGTCCCATTACAGAGCTTCCTTGCATTGCGGGGTTCCCGTGGCACTTCTGCAGCTTCTCCATTGGAGGCCCCTGCGATGTGGGGGACCCTTGCCGTCGTGGGGTGTCTGTGACCGTCATGTGGGTGTTTGTGTTATGCAGGCTTCTGTCACCGGGGCTTCCTGTGTTCTGGGGGGATCGCGTGCCATGACAAACCCCTCTCATTCTGGGGGTCTCGGGGCCATCACTGGGCTCCTAGCCTCAGGGCCGGCTGAGGTGGAAACAGCCCAGCTGGTGCATCACGTGGCCTCACCCACTGGCCACAGCACGATGACCCCGAGCTCTCGGCAGTGACCCCTGGGTGGGTGACAGAGCCAGGATGGGGGTCGGTTGAAGGGGCTGGGGGAGCATGGTCAGCTGGGGGTGGGGGCAGCAGCAGGAGTGTGGCCCCTGCCCCTGCCTGCGCCCCTCCCCGAGTGTGTCCATCTGTGTGTCTCTCTGTCCCCCACATGCCCACCCTGTGCCGAGCCCATCTGTTCCTTTCTCTCTTCTGCGTGGATCCCAAAATCTTCCCAGGGAAAAAGCTGGGAGAAAGTGGGAAGGGAAGGAGGGAAAGGGCAGGGGGTGGGTGGGCAGAACCTGCTCCTGAGGTGGGGTAGGCGCCCAGCTCTGCTCCCCACTGACGGCCTGTCTGGCTTCTTCCTCCAGTGCTCAGCATTGGGGAGGGCGGTTTCTGGGAGGGAACCGTGAAAGGCCGCACGGGCTGGTTCCCGGCCGACTGCGTGGAGGAAGTGCAGATGAGGCAGCATGACACACGGCCTGGTGAGTGACCCCACGGCTCCCCGGGCAGCTCCCAAGGGGACCACCCCTTCCAGTTTCCCTTTGTTCTCTCTTGGTGCTAAATCCACATGGATATTCATAGAGAAAAGACTAGAGGTAAACTCAAACAAACACTCAAAGTAGATGCAAACTTGTGTACATGACACAGACACGTGTGCACACACTCTGCATATACTTGGGAACATGCGTGTATGTAACCTGACGCTTCACGTGCAGTGGAGACACATAGGACGTGTGTGACGGGGCCTCTGTCTGTGTGATCCCACATTGACTCCCAGTGACTTGCACCCCACCAGCACAGTCCTTCAGAAACACCAGGTGTGTGGAACGCATGATTCCTGCGTAGCTGGCAGACATGTAAGGAGGTCAGTGTGAGAAAAGAGGCGTTTTTCCAAAGTGGACAGATTGTCCAAGTGGGCAGAGCAGGCAGGCCCGGAGCAGCCAAGAGGAAATGAGGCCAGTTGGGCCTGGAGGTGCCCTGGTGAGTGCCCTGGG
|
GGACAGGCACATGCACGCTGATTTCCGGTTGGAGCTGGGCTTGCCATGAGGACAGTGGGCAGTTGAGGGAGCGTGTTAGGTGGAGAGGGTATGCTCCTACCTGTGATTTAGAAAACACACTGCATTGTCAGGCATGGCTGGGAAGAGTCAGGGCTGGTGGCCTGTGGTAAGGGGGACAGGGATGGAGTTGCCACTCCAGTAGGGCCCAAAACCTACAGGTAAGCCCCAGCCCTGTCCCCAGGGTATACTCATGGTTTCCCCCAGCCCTGGCACACCTACAGGACTCTGTGGCTTCTATTCTTTACCCTCACCCTGAGGCCTGGGTCCCTGAGGCAGGGATGCCTGGACCGGAGCCCACTGGCCTCTCTGGGCTGTGCATTGGGTGCTGAGGTGGGCGCACTGGCTCTCAGCCACTTTGTGCCTGGGCTTCTCATCAGTAAGTGGGAATAGTCCTACCTAAGTCATTGTCTTTGGGAAGCCTTCCAGAATGCCCTGGGCAGGTGAGGGATCACCTGGCAGAGTCTGGCAACTGCCGGTAAAAGCACCTGCCCTCCCTGTGCCTTGAAGGCAGGCACCGTCTTTGTCGTTTCCTAGTTTCATCAGAGCCAGGCACTGAGGAGGGTGTTTGGCAGACATTGTTGAGTGGAAGAGTTACATAAACAGTATGTTGTTGTCAGGATGGCCGCCGGCCTTTACAGTTCTGTCAGTCCAGGCCCGCTGTTGGGCTGAATGGCATGTGTATACTAGCTCCTTTAACCTTGACGAACGTACATGTTCATGCTCTATTAATACCATGTTACAGATGAGCGTCCTGGTACGCAGGTGGGGCCTGTGACGGGTCCAGAGTCACAGAGCTACGGATCAGCTTCACTGGGCCCCAGGTAGACCCAATCCCCAACTTTCTAAGCCTGAGTGTTCAGCAGAGGGCTCAGGGTGCAGCAGGGCCTATGGAAGGCGCCCCTTCCTGTGCTGCCGCCCCTGCTCTGCAGCCTGGTCTCAGCGATGTCTCCGTGTCTGTCTTTGCCTGGGCTTGTTGGACTCGCAAGGCTGGCTGTACTGCCCCAAATCTCAATTCTCCCCTGAAGCTTTCTTATAGACCCGCGGATTTTCTAAGGGCTGGGCGGCCCAGTGGCTGAAAGAACACATTCTGCATTCCGGATGTTTCCATCCCGCAGAAAGGCTGCTCCTGAGTTGGAGGCACGCGTTGCCACAGGCTCCTCCCTGCATTCATTTTTTGTACGTGTTCATTCATCCTTTCAGCAGACACAAAACTAAGACCTGCTGTGTGAGGGGCTCCAGCTCACCTGCTCTGTGGGGATGGCAGAATTCTGTTTTTTCCTTCCTCGCAAACATTTATTGGGTGCCTGGTGCGTCAGAGGTGGTGGGTCTCAGGAAGTTGACAGCCGAGGGCCCGGGCTAAGCAGCAGTTAGGTGGGCAGTGATCCCCTTATGGGGCTGCCCTGGTGAGTGGACAAGGGTCTGCAGCTCTCGGGAGGGGCTGAGGAAGTTCGGTGCCCCGAGGAGAGAAGTCACCCCCTGGGGGAGGCGAGGCTGGGCCCTGCACCGCGCGGGTCGCTGCGCCCTCTGTCGGTTGAGCCGGACCGGGACCCGACCCCCATCAGCCCCCCAGTATCACACGGGGCACGGCGGGGGAGTTTGGGCTGAGAGCCCGTCACTTAACAGCTGGCCCAGGGGTCAGGATGTTAGAGTAGTTCAGGTGTTGGCAACTGCGTGACGGACAGCCCACAGGAGGGGAAGGAGAGGTGCCCCGTGTGACTAGAGCGTAGCAAACTGCCAAGCCCGAGGGAGCCTGGCTCTTGGAAAAGCGGGTGGCTCTGGCCTGCCTGGGTACTAGGGAGCCACTGCAGGCTTCTGAGCAGAGCCCCAGTGGAGGAGTGAGAGCTCAGGCTCTACCCCAGTCTGGGAGTGGTCTGGGGAAGGTGGGCATCACGCAGTGGGCGTGGGCAGGGGCCGGTGTCCAGGACGAGGGGACCCAGGCCTAGAGGGGGACTGGGCACCCAGCGATCCGGGCCCTGGACCTGGAGGGGTGGGGGGGGGCGCCCCTCCCTCCCGTTCACCGGCTCCAGGCGGCTTTGCTGGTGCCCGAAGCCCCCGCCCCATCCCCCGCTCCCACTAGGCTGCCCTGACCACCGTCCCGCGTCCGCGTCCGAACTCCCCCTCCCGGGGGTCGGCGGCGAGGGGAGGGCGGGAGGGAGGGCGCGAGGGCCGCCACCACCGCCCGCAGAGGGAGGAGCCCGGCCGTGGAGGAGGCGGGGCGCGGGGCGGCCGCGGCATGGAGCGAGCCTGGCGCGCCCAGGAGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCCCCGGGGCCCGAAGCGGAAACTTTACAGCGCCGTCCCCGGCCGCAAGTTCATCGCCGTGAAGGCGCACAGCCCGCAGGGTGAAGGCGAGATCCCGCTGCACCGCGGCGAGGCCGTGAAGGGTGAGGGGCGCGGGGGGGCGCGGGGGGGCGGGCCCGGCGCGGGGAGGGGGCGGCGCCGCGCGCGGTGCTGGCCGGGCCGGGGCAGTGGCTCTGGGGTCTCCTCTGCCGGGGCGGCCCTGGGCCCTTGTGGGATCCCTGGTGTCACGGTGAAGGGCTCTGCCTGGGGAAGGTTCCTGCCGTGCGGGTCCCTCCGGTGCTCTGTCGTTCCGGGCTCCCTGTGTCACCACGGAGGCTCCTCTCTCGCCACGGGCGTTTCTGTGTCCCCGGGGGTCTCTGCCTGAAGGACCCTGTCCCATTACAGAGCTTCCTTGCATTGCGGGGTTCCCGTGGCACTTCTGCAGCTTCTCCATTGGAGGCCCCTGCGATGTGGGGGACCCTTGCCGTCGTGGGGTGTCTGTGACCGTCATGTGGGTGTTTGTGTTATGCAGGCTTCTGTCACCGGGGCTTCCTGTGTTCTGGGGGGATCGCGTGCCATGACAAACCCCTCTCATTCTGGGGGTCTCGGGGCCATCACTGGGCTCCTAGCCTCAGGGCCGGCTGAGGTGGAAACAGCCCAGCTGGTGCATCACGTGGCCTCACCCACTGGCCACAGCACGATGACCCCGAGCTCTCGGCAGTGACCCCTGGGTGGGTGACAGAGCCAGGATGGGGGTCGGTTGAAGGGGCTGGGGGAGCATGGTCAGCTGGGGGTGGGGGCAGCAGCAGGAGTGTGGCCCCTGCCCCTGCCTGCGCCCCTCCCCGAGTGTGTCCATCTGTGTGTCTCTCTGTCCCCCACATGCCCACCCTGTGCCGAGCCCATCTGTTCCTTTCTCTCTTCTGCGTGGATCCCAAAATCTTCCCAGGGAAAAAGCTGGGAGAAAGTGGGAAGGGAAGGAGGGAAAGGGCAGGGGGTGGGTGGGCAGAACCTGCTCCTGAGGTGGGGTAGGCGCCCAGCTCTGCTCCCCACTGACGGCCTGTCTGGCTTCTTCCTCCAGTGCTCAGCATTGGGGAGGGCGGTTTCTGGGAGGGAACCGTGAAAGGCCGCACGGGCTGGTTCCCGGCCGACTGCGTGGAGGAAGTGCAGATGAGGCAGCATGACACACGGCCTGGTGAGTGACCCCACGGCTCCCCGGGCAGCTCCCAAGGGGACCACCCCTTCCAGTTTCCCTTTGTTCTCTCTTGGTGCTAAATCCACATGGATATTCATAGAGAAAAGACTAGAGGTAAACTCAAACAAACACTCAAAGTAGATGCAAACTTGTGTACATGACACAGACACGTGTGCACACACTCTGCATATACTTGGGAACATGCGTGTATGTAACCTGACGCTTCACGTGCAGTGGAGACACATAGGACGTGTGTGACGGGGCCTCTGTCTGTGTGATCCCACATTGACTCCCAGTGACTTGCACCCCACCAGCACAGTCCTTCAGAAACACCAGGTGTGTGGAACGCATGATTCCTGCGTAGCTGGCAGACATGTAAGGAGGTCAGTGTGAGAAAAGAGGCGTTTTTCCAAAGTGGACAGATTGTCCAAGTGGGCAGAGCAGGCAGGCCCGGAGCAGCCAAGAGGAAATGAGGCCAGTTGGGCCTGGAGGTGCCCTGGTGAGTGCCCTGG
|
benign
| 329,142 |
Assess the variant on chromosome 22, position 50720596, impacting SHANK3 (SH3 and multiple ankyrin repeat domains 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Autism_spectrum_disorder', 'Intellectual_disability']
|
TGCGTGTTCATACACAGTGCAGGGAATGCAGCAGGAGACCCAGGACGAACTGGGCACAATTTCTCTGTCCAGCGGTTGGGGATGGGGGGAAGGCAGACCTAAAAATCACGATGATGATGACCTCGGCCCCCTTCCCCCATTCCCAGGATACTGCTGCAGTTCAGCCCTGCACTGTAAAGGTGAAATCGCCCCACAATAGTTGCAGGCTGTCCTCTTGACATGAGGAAACTGAAGTTCCTAGAGGCTTCTGAAGTTCCTGGCAGATCTAAAATTCAAGCCTAGGTCTGTACACAAAAGCCCACCCTTGGTACCTTGGCTACAAAGAGATATTATGCCCAGCAAGAAGCAGTGTAGTACTGGAGGCCTCATTAGCACTGCGGTGGCTGGAGGAGGATGCGATCAGGAACAGGCAGTCTGTATTTTAGCGAGTTCATAAAAATGTTGACCAATCTCAGAGTGAGGCTGGGAACAGGAGCACCACGAGACCTGGGTGTGTGGGTGTGGGGCCGTCCGCCCCCTGCAGCCTCACTGAACACACCTGCAGCACGTGTGTCCGCATCATGATGTCCACAGGGGTGTTCAGGAGGTTGTGTCAGGTTCTGCTGGACAGCAGGAGCATGAGGGCCCTGAGCACTCCAGCCCCTGCACAGGACCCTAACAATGATGTCTGAGCAAGGCATGCAGAGGGGGGTTACTGAAGCTCAAAGGGGCTCAGGGCCTGGCCTGGGGTCACGCTGCCAGTAGGGGTTAAAATGAAACATGCTGGGTGCTCAGCCTGCAGTTCCATTTTGATTGATCCGTCCGTTCTTCCCTTCACCCACTCACCCATGCGGGTCTCTGGGAGGAGCCTCTCAAGGCTTCCTCCACAGGGCACCTCCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGT
|
TGCGTGTTCATACACAGTGCAGGGAATGCAGCAGGAGACCCAGGACGAACTGGGCACAATTTCTCTGTCCAGCGGTTGGGGATGGGGGGAAGGCAGACCTAAAAATCACGATGATGATGACCTCGGCCCCCTTCCCCCATTCCCAGGATACTGCTGCAGTTCAGCCCTGCACTGTAAAGGTGAAATCGCCCCACAATAGTTGCAGGCTGTCCTCTTGACATGAGGAAACTGAAGTTCCTAGAGGCTTCTGAAGTTCCTGGCAGATCTAAAATTCAAGCCTAGGTCTGTACACAAAAGCCCACCCTTGGTACCTTGGCTACAAAGAGATATTATGCCCAGCAAGAAGCAGTGTAGTACTGGAGGCCTCATTAGCACTGCGGTGGCTGGAGGAGGATGCGATCAGGAACAGGCAGTCTGTATTTTAGCGAGTTCATAAAAATGTTGACCAATCTCAGAGTGAGGCTGGGAACAGGAGCACCACGAGACCTGGGTGTGTGGGTGTGGGGCCGTCCGCCCCCTGCAGCCTCACTGAACACACCTGCAGCACGTGTGTCCGCATCATGATGTCCACAGGGGTGTTCAGGAGGTTGTGTCAGGTTCTGCTGGACAGCAGGAGCATGAGGGCCCTGAGCACTCCAGCCCCTGCACAGGACCCTAACAATGATGTCTGAGCAAGGCATGCAGAGGGGGGTTACTGAAGCTCAAAGGGGCTCAGGGCCTGGCCTGGGGTCACGCTGCCAGTAGGGGTTAAAATGAAACATGCTGGGTGCTCAGCCTGCAGTTCCATTTTGATTGATCCGTCCGTTCTTCCCTTCACCCACTCACCCATGCGGGTCTCTGGGAGGAGCCTCTCAAGGCTTCCTCCACAGGGCACCTCCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTN
|
pathogenic
| 329,193 |
Classify the chromosome 22 variant at position 50721256 affecting gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Autism_spectrum_disorder', 'Phelan-McDermid_syndrome', 'SHANK3-related_disorder']
|
ATGATGTCTGAGCAAGGCATGCAGAGGGGGGTTACTGAAGCTCAAAGGGGCTCAGGGCCTGGCCTGGGGTCACGCTGCCAGTAGGGGTTAAAATGAAACATGCTGGGTGCTCAGCCTGCAGTTCCATTTTGATTGATCCGTCCGTTCTTCCCTTCACCCACTCACCCATGCGGGTCTCTGGGAGGAGCCTCTCAAGGCTTCCTCCACAGGGCACCTCCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCC
|
ATGATGTCTGAGCAAGGCATGCAGAGGGGGGTTACTGAAGCTCAAAGGGGCTCAGGGCCTGGCCTGGGGTCACGCTGCCAGTAGGGGTTAAAATGAAACATGCTGGGTGCTCAGCCTGCAGTTCCATTTTGATTGATCCGTCCGTTCTTCCCTTCACCCACTCACCCATGCGGGTCTCTGGGAGGAGCCTCTCAAGGCTTCCTCCACAGGGCACCTCCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCNN
|
pathogenic
| 329,203 |
A genetic alteration at chromosome 22, position 50721469, in gene SHANK3 (SH3 and multiple ankyrin repeat domains 3)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Moderate_global_developmental_delay', 'Mutism', 'Phelan-McDermid_syndrome', 'Psychotic_disorder', 'Schizophrenia_15']
|
CCTCCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACA
|
CCTCCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGAC
|
pathogenic
| 329,208 |
Benign or pathogenic: chromosome 22, position 50721472, gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) variant? Disease(s) if pathogenic?
|
pathogenic; ['Phelan-McDermid_syndrome', 'Schizophrenia_15']
|
CCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAG
|
CCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGA
|
pathogenic
| 329,209 |
Does the variant on chromosome 22 at location 50721504 affecting gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Autism_spectrum_disorder', 'Inborn_genetic_diseases', 'Neurodevelopmental_disorder', 'Phelan-McDermid_syndrome', 'SHANK3-related_disorder', 'Schizophrenia_15']
|
CTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAG
|
CTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAA
|
pathogenic
| 329,212 |
A genetic alteration at chromosome 22, position 50721504, in gene SHANK3 (SH3 and multiple ankyrin repeat domains 3)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Intellectual_disability', 'Neurodevelopmental_delay', 'Phelan-McDermid_syndrome', 'Schizophrenia_15']
|
CTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAG
|
CTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGN
|
pathogenic
| 329,213 |
Regarding the variant found on chromosome 22 at position 50721557 in gene SHANK3 (SH3 and multiple ankyrin repeat domains 3): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Phelan-McDermid_syndrome', 'Schizophrenia_15']
|
TGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGGACTTTGCAGGTCTTACAAAGGCCTGGCCATTCTACCTTCTTTAGTTCAGGAT
|
TGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGGACTTTGCAGGTCTTACAAAGGCCTGGCCATTCTACCTTCTTTAGTTCAGGATNNNNNNNNNNNNN
|
pathogenic
| 329,215 |
The mutation impacting SHANK3 (SH3 and multiple ankyrin repeat domains 3) on chromosome 22 at position 50721584: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Inborn_genetic_diseases']
|
TTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGGACTTTGCAGGTCTTACAAAGGCCTGGCCATTCTACCTTCTTTAGTTCAGGATTCAAAAGACAGGTAGGAGCTTGGGAAG
|
TTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGGACTTTGCAGGTCTTACAAAGGCCTGGCCATTCTACCTTCTTTAGTTCAGGATTCAAAAGACAGGTAGGAGCTTGGGAAGNNNNNNNNNNNNN
|
pathogenic
| 329,216 |
Does the variant on chromosome 22 at location 50721585 affecting gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'Phelan-McDermid_syndrome', 'SHANK3-related_disorder']
|
TCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGGACTTTGCAGGTCTTACAAAGGCCTGGCCATTCTACCTTCTTTAGTTCAGGATTCAAAAGACAGGTAGGAGCTTGGGAAGC
|
TCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGGACTTTGCAGGTCTTACAAAGGCCTGGCCATTCTACCTTCTTTAGTTCAGGATTCAAAAGACAGGTAGGAGCTTGGGAAGCNNNNNNNNNNNNN
|
pathogenic
| 329,217 |
Is the genetic change at chromosome 22, position 50721897, within gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Intellectual_disability', 'Phelan-McDermid_syndrome']
|
AGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGGACTTTGCAGGTCTTACAAAGGCCTGGCCATTCTACCTTCTTTAGTTCAGGATTCAAAAGACAGGTAGGAGCTTGGGAAGCTCATGAGGCCTCTCCTAAGGTCCCGGGATGCTGCCTCCAGCTCCTGTCATCCTGGGGAATTGCTCTGGGGTCCTCTCCCCTTTTAGCCTTTTCCAACTCTCAGCCAAACTGGAAAGCCCTCTTCCCAGCAGTGCAGTGTTGAAGGTGCCCGTAGAATGGGTGTTATAATCAGAGTGAGCAGCCTGGTCCTAGGCCTCTGTACAGGACCAGACCCCTGAGGCTGGGGTCTCCTGACCCACACCTGACCAGCCCCCATCTTCCCTCTCTGCTTCTCCCTCCGCTCTTCTCTGCCTCTTGGTCTTGATGAAAATC
|
AGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGGACTTTGCAGGTCTTACAAAGGCCTGGCCATTCTACCTTCTTTAGTTCAGGATTCAAAAGACAGGTAGGAGCTTGGGAAGCTCATGAGGCCTCTCCTAAGGTCCCGGGATGCTGCCTCCAGCTCCTGTCATCCTGGGGAATTGCTCTGGGGTCCTCTCCCCTTTTAGCCTTTTCCAACTCTCAGCCAAACTGGAAAGCCCTCTTCCCAGCAGTGCAGTGTTGAAGGTGCCCGTAGAATGGGTGTTATAATCAGAGTGAGCAGCCTGGTCCTAGGCCTCTGTACAGGACCAGACCCCTGAGGCTGGGGTCTCCTGACCCACACCTGACCAGCCCCCATCTTCCCTCTCTGCTTCTCCCTCCGCTCTTCTCTGCCTCTTGGTCTTGATGAAAATCNN
|
pathogenic
| 329,228 |
Classify the chromosome 22 variant at position 50721914 affecting gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Phelan-McDermid_syndrome']
|
ACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGGACTTTGCAGGTCTTACAAAGGCCTGGCCATTCTACCTTCTTTAGTTCAGGATTCAAAAGACAGGTAGGAGCTTGGGAAGCTCATGAGGCCTCTCCTAAGGTCCCGGGATGCTGCCTCCAGCTCCTGTCATCCTGGGGAATTGCTCTGGGGTCCTCTCCCCTTTTAGCCTTTTCCAACTCTCAGCCAAACTGGAAAGCCCTCTTCCCAGCAGTGCAGTGTTGAAGGTGCCCGTAGAATGGGTGTTATAATCAGAGTGAGCAGCCTGGTCCTAGGCCTCTGTACAGGACCAGACCCCTGAGGCTGGGGTCTCCTGACCCACACCTGACCAGCCCCCATCTTCCCTCTCTGCTTCTCCCTCCGCTCTTCTCTGCCTCTTGGTCTTGATGAAAATCAAAGCCATTTTAAAAAG
|
ACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGCACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCGCCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAGGCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTGCCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCCGAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGCCTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTGGAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGCTTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGCGCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTGGAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCCGGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACCGGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTGGTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAACCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGACCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCTTTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGACACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAGCCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCCCCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGTGGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTGTTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCCACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAGCCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCTGACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCCAGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCTGACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCCCCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGCGAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGCCGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGCCTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGCAGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCGGTGAGCAGGGCGGTGCGGGGAGGGATCCGTGCCTTGTCCGTGGCCCCGTCTGTCATTCCTCTTGTCTGTTCTCTGGCTCTCCTGTTCCTCCTTGTTCTGTTCCATTCCTTCTGTGGCAACCCCCAACCCGCCCCCGCCATCCACCTCTGAATCCGGTCTTGCTTGGCCTGCCCGAGAGAGGAGGTTCTTCTGGGCGTCTGACACGTCAGGGTTGCTGCTCACTGTGTCCCTGTTGGTGCCAGAAGTGGGAGCTGGGCTCCCCTCAGAGACTCAGGTTGGGCATGAGGCGCCTCCATGGCCCTCCTGGAGGCTCTTGGCCCCAGGGATTCCTGTGAGTTCTCTCTCTCCCTCCCGACACAGGCTGTCTTTACCATTAAGGGTTGTTTTGTGTTTTACTTTGGAGGTACGCCTCCCTCCTCCCATCCTCTCTGTGGCCATGTGGCTGCCCAGTGTGGCTGATACCCTCTGCCTTACAGCTGCCTCCTGCCTTGCTTCCTCTGGCGGCTTGGAGCACACTGACTCCTTTTCTTTTGGGGGATCTGCCACTAACTCCCTATTTCCCATCCCAGAAACATTTGTCTCTTGGCACCACCTTAGAATCCCTTAAACATGGATTCCCGTGTGTCATTTCTAAAGTGCAGTAAGAAGATAGATGGAAGTCACGCCATCTCCCTGCACTCCATCTGCCCTCTTGCCTTCTCCCCACCACTTCCCCGTCTGTCCTGCCCCTGCCCAGAAGGATCTGAGCAGGGGCCTGGCTTGCTGCTGAGGCTGTCACAGCTGCCAGAGCCCTGGGCTGATCCCATAGGTCTTTCCTTGAGGACCCGACTCCCAAGGCTCCTTCCAAAGAGGAGCCCTTCGGGCCCGTGGGCTGCATGGATGCTGGCGGCAGAGCTGGTCATCCCCCACCCGCCCCCTTGTCTGCCTTTTTAAAGCTGCTTTTGCCTTCTGTGCCCCTAGGTCTCCCCTCTCCTCTTTGGGTCTGGGGGGGTGGTATGTGGATGCCACCTCTTGACTCCTGCTTCTTGCTGCCTGGAAGACCAACCTAGTGGGCCCCGTACTGTCAGCCTTGGAGGACAGAGTTCACAGCGTAGCAACGTGTTCAGAACTTAAGGACTTTGCAGGTCTTACAAAGGCCTGGCCATTCTACCTTCTTTAGTTCAGGATTCAAAAGACAGGTAGGAGCTTGGGAAGCTCATGAGGCCTCTCCTAAGGTCCCGGGATGCTGCCTCCAGCTCCTGTCATCCTGGGGAATTGCTCTGGGGTCCTCTCCCCTTTTAGCCTTTTCCAACTCTCAGCCAAACTGGAAAGCCCTCTTCCCAGCAGTGCAGTGTTGAAGGTGCCCGTAGAATGGGTGTTATAATCAGAGTGAGCAGCCTGGTCCTAGGCCTCTGTACAGGACCAGACCCCTGAGGCTGGGGTCTCCTGACCCACACCTGACCAGCCCCCATCTTCCCTCTCTGCTTCTCCCTCCGCTCTTCTCTGCCTCTTGGTCTTGATGAAAATCAAAGCCATTTTAAAAAGNN
|
pathogenic
| 329,229 |
Chromosome 22, position 50730755, gene SHANK3 (SH3 and multiple ankyrin repeat domains 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Inborn_genetic_diseases']
|
GGTCCTGCCCCTCTCTGGGTGTCCACAGTCAGGTCCCTCTGAGTGATTCTCTCGGAGTCTCCTCTGGCAAGCCCCTCCAGCAGTCACCACCACCTGGGCACCCACCCCCAGGGGACCCCCCGACCCAACACCACCTGGCACCTCCCCTTGGGAATCCCCCCAACCTTGGCTGCCTCCCCACTTTGGCCCACTGTGCAGGTGGATCCATGGAGGCCAGGTCCAATGGGAGCAAAGACAGCTTATTCTGGTGGTTGGTGCCTGTGCTGAGGCCCACCTCAGGTGTTCTTGAAGCCCCTTTCTGTTTGGGGGCACAGTGTGGCCTCTTCAGGAAGTTCTGCTCTGGATCTGAGCAGCTGGGAGGAGGCAGTAGGGACAGAGGCTGAGGAGAGGACAGAAATGAGGTCCCATGGGAGAGACAGAGCTCAGATCTCCACAGAGGGCTGACCTCTCACAGGTGGGAGACAAAAGACGAAACCTGCTTTAAGGGGAGCCCCATGCGTGTGTGGGGCAGGCACTGGTGATGCTGTGTGGTGAGGACAGCCTTTAAGGGGAGCCCCATGCCTGTATGGGGCAGGGACTGGTGATGCTGTGTGGTGAGGACAGCACAGAGGTTGGGGTGGGGGGACTCAGCCTGGGCAGGGGCAGGGAGAGGGGGTGGGAGGGCCACTGGAGAGGGGCCCGGCCAAAGAGGATGTCAGGGGCTCAGCACCCCCAGGCGGCCAGGCACCTGCCGAGCACTGCAGCCACGCTTGTGGTTCACCTGCACTTGGAGACTCTCGCACAGGCGCCTCTCCTCCACCAGCAGCTCCAGCTTTGTCCCTCCCACAGCAGCTGGGCCCTCTGCACCTGAGTTCCTCCCTCCACACCTGGCTGCCCATTGTGTGGTTGCAGCTGTGGGTCGCGTGGGCCTGGCCGGCTAACTCTCTCTCTCATTGCTCTCTCCTGCCCATCTGCATGTGGCTGCTCTGTCGAGCTGCGCCGTGGTCCCGAGCGCCGGCTGTGTAAGTGAGCATGCCCATCCCATGCCTCTTGCCGTCCACACGCTGTGCCTGTCTGCCTGGGTCTCTGCTCTGCGTGGCTGTGAGAGGCTCTGGTGCCACTGACAGCCCCTTGAGGCTTCCCCTGACACAGTGGGGATAGGGATGGGAATGGGAGGACATGGGAGTGGGTTTTCTCTGGAGCTATCACCCCAGGTAGGCCTCCCACCACGGCAGAGCCAAGGAGGGGCTAGAGCTCTAGGGTCCTGTCAGGTGAGGCTGGGAAGTGAGCTGCCATCGGTTCTTGTGTGTGTGCGTGCGTGCATGTGTGCGTGTTGCGTGTCTGCGTGTGTGTGCTGCTGCCACCGCAGCATGTCTGTAACGCGTGTGGGCACCGTTGCTGCTGTTGTGTGCCGTCTGTGCAGGAGGCTGCCTTTGTGTTGAGGGTGTGCACGGCCTCACACCTGCCCTGCATGTGCTGCTGCTCCATACGGGTACGAGCCCTGCCTAGTGTCTGTCTCCTGTGTCACGGACCTGTTCAACCTCGTGCTGCTGCCAGCCTTTATCGCGACTCAGCTGTCCCTGGAACCTGCCCAGGATCCCCTGGGTCTTCTCATGAGAGCAGAGCTGTGTGGGGGGTGGGCGGTGAAGGGTACTGCCCAAGTCTCAGCGTCCCGGGTATCTGTGGATCCCGCCATGCCCAGAGCCGGTGTCGGAGGCTGGCAGGAGGGAGAAGCCCGCCCTTTGCCATGAGAGGCTGTCTTTTCTTTGGTTGGGCTGCACTTGGAGCCTGGATGGAGTGGAGGGGGCCACCAGTCATTCCTCATATTCCAGCCAGTCGCTGGCTCTGGTCCCAGGGGCCAAAGAAAAGGGCCAGGGTAACCGTAGGATCCCACCCTTTATTTCTTCCTCTGGCCGGGCTACTCCCGCCAGCCGCAGCCCCAGCCCGTTTCCTCCTGGACCCTGCCCGCTCCCCTCCGCCCGTCCCCCCTTGGCTGTGCGCCCCTCACCTGGCGCTGACCCCTCTCCCTCCGCAGGCTCTTCAGCAGCCTCGGTGAGCTGAGCTCCATTTCAGCGCAGCGCAGCCCCGGGGGCCCGGGCGGCGGGGCCTCGTACTCGGTGAGGCCCAGTGGCCGCTACCCCGTGGCGAGACGCGCCCCGAGCCCGGTGAAGCCCGCGTCGCTGGAGCGGGTGGAGGGGCTGGGGGCGGGCGCGGGGGGCGCAGGGCGGCCCTTCGGCCTCACGCCCCCCACCATCCTCAAGTCGTCCAGCCTCTCCATCCCGCACGAGCCCAAGGAGGTGCGCTTCGTGGTGCGCAGCGTGAGCGCGCGCAGTCGCTCCCCCTCGCCGTCGCCGCTGCCCTCGCCCGCGTCCGGCCCCGGCCCCGGCGCCCCCGGCCCACGCCGACCCTTCCAGCAGAAGCCGCTGCAGCTCTGGAGCAAGTTCGACGTGGGCGACTGGCTGGAGAGCATCCACCTAGGCGAGCACCGCGACCGCTTCGAGGACCATGAGATAGAAGGCGCGCACCTACCCGCGCTTACCAAGGACGACTTCGTGGAGCTGGGCGTCACGCGCGTGGGCCACCGCATGAACATCGAGCGCGCGCTCAGGCAGCTGGACGGCAGCTGACGCCCCACCCCCACTCCCGCCCCGGCCGTGCCCTGCCGGCAGGGCCCCCCACCCCCACCCCGGGCCGCGGGCTCGGCCTGCCCCTTACGACGGCGCCCGGGCCAGGAATGTTGCATGAATCGTCCTGTTTGCTGTTGCTCGGAGACTCGCCCTGTACATTGCTTAGTGCCCTCACCGGCCGCCCAGCCCACCCAGCGCACAGTCAGGAAGGGCGTGGACCAGGGAGGCTGGGGCGGGAGGTGCCGGGGGTGGGGTGCCCTAGCGTGACCACCTCCTTCGCAGCTCCTGGTGGCCATTCTCCCAGAGGGGGAACCTAGTCCAGCATGCGAGGTCAGGACCCGCCTTGGTGACTCGGGGGGAGGGGGGAGACATTGGGATTCTCGATGGGGGCCAAGGAGCCCCCCTGTTTTGCATATTTTAATCCACTCTATATTTGGAACGAGAAAAGGAACAAATATCTCTGTCCGTAATAGTTTCCTCTCCCCTCCCTTCTACTTCCACTGGTCCCACTGCAGCTGCCCAGTCTTCCATCTCCGGCCCCTCACTGCCACTGCCACCCCACAACGGGGCAGGGGACGCTCCAGCTGGTCTGGGGTTGGCCAGGGCCCTAGTGGCCCGCCCTGGGGCCCCAGCTCGGCCCCTCGCCTCGCTGAGCTCTAGTGTGCCCCACCGACCCTTCAGGTGCTGCTCGTGGTGGGAGGGGCGGCAGGCCGCGGGTCCTGCTGTGCACCCGCGGGACCAGCCGGCCTGGGAGACCATCGGCCGGGGGGGATGAGGGCAGGGCCCTGCCGCTCCACCGCAGCCATCTTCCTCACAGGGTCTCTCCCCAAGGAGGGGGCTAGCTTGGTCCCCATGCTCTTGGGCAACTACAGCAGAGAAGCCTCCCTGCCTTGGACCCCAAAGTCTCCTGTCCTGCCCTTTATGTGTGTGGGTGAAACTGGGTGCGTCTGAGCACGTGGGAGCCGTGTGTGTGCCTGATTACTGAGTGGCCACCAGGGGCCGCTCTGGACTAGCGCGGGGCCGTGGAGGCGTGCACCGTGTGCATGCGTGGGGTGTACCTGTGAGAGCACCCTGTCTCCTCTTCCAAAGAAAGTCAGAGGCCATCCTGCACCCTGGGTCCAGCTGTTTGCCCAGCCTGTCCTTCCAGAGCCTCACCCAGCCTGAGCGGGGTTCCCTGGTGAATCCCTGCTGCTTGGGGAGGCCCCAAGGGCCCCTTGGAGGCAGCGCCCCCACCTTGGGCTTCTGAGGGCATCATAGGGGGACCCCTAGAGTCAGTTCACCACAGGCCCTGGGGAGAGTCAAAGACCCCCGAGGGTGCCCAGCCCCCCACACTGTGACTCCTCACACTCAGCGATGACCTGTGGGGTGGGGGGCCCTGGGACGTTTTTAAACCTAGGGTTTGGAGTCTGGACTAAGCTCCATCCACGTCACTCACAAGTTTCTGTTTATATTTCTAGCTTTTTTTAATAAAATAAAAAAAAAAAGAAAAC
|
GGTCCTGCCCCTCTCTGGGTGTCCACAGTCAGGTCCCTCTGAGTGATTCTCTCGGAGTCTCCTCTGGCAAGCCCCTCCAGCAGTCACCACCACCTGGGCACCCACCCCCAGGGGACCCCCCGACCCAACACCACCTGGCACCTCCCCTTGGGAATCCCCCCAACCTTGGCTGCCTCCCCACTTTGGCCCACTGTGCAGGTGGATCCATGGAGGCCAGGTCCAATGGGAGCAAAGACAGCTTATTCTGGTGGTTGGTGCCTGTGCTGAGGCCCACCTCAGGTGTTCTTGAAGCCCCTTTCTGTTTGGGGGCACAGTGTGGCCTCTTCAGGAAGTTCTGCTCTGGATCTGAGCAGCTGGGAGGAGGCAGTAGGGACAGAGGCTGAGGAGAGGACAGAAATGAGGTCCCATGGGAGAGACAGAGCTCAGATCTCCACAGAGGGCTGACCTCTCACAGGTGGGAGACAAAAGACGAAACCTGCTTTAAGGGGAGCCCCATGCGTGTGTGGGGCAGGCACTGGTGATGCTGTGTGGTGAGGACAGCCTTTAAGGGGAGCCCCATGCCTGTATGGGGCAGGGACTGGTGATGCTGTGTGGTGAGGACAGCACAGAGGTTGGGGTGGGGGGACTCAGCCTGGGCAGGGGCAGGGAGAGGGGGTGGGAGGGCCACTGGAGAGGGGCCCGGCCAAAGAGGATGTCAGGGGCTCAGCACCCCCAGGCGGCCAGGCACCTGCCGAGCACTGCAGCCACGCTTGTGGTTCACCTGCACTTGGAGACTCTCGCACAGGCGCCTCTCCTCCACCAGCAGCTCCAGCTTTGTCCCTCCCACAGCAGCTGGGCCCTCTGCACCTGAGTTCCTCCCTCCACACCTGGCTGCCCATTGTGTGGTTGCAGCTGTGGGTCGCGTGGGCCTGGCCGGCTAACTCTCTCTCTCATTGCTCTCTCCTGCCCATCTGCATGTGGCTGCTCTGTCGAGCTGCGCCGTGGTCCCGAGCGCCGGCTGTGTAAGTGAGCATGCCCATCCCATGCCTCTTGCCGTCCACACGCTGTGCCTGTCTGCCTGGGTCTCTGCTCTGCGTGGCTGTGAGAGGCTCTGGTGCCACTGACAGCCCCTTGAGGCTTCCCCTGACACAGTGGGGATAGGGATGGGAATGGGAGGACATGGGAGTGGGTTTTCTCTGGAGCTATCACCCCAGGTAGGCCTCCCACCACGGCAGAGCCAAGGAGGGGCTAGAGCTCTAGGGTCCTGTCAGGTGAGGCTGGGAAGTGAGCTGCCATCGGTTCTTGTGTGTGTGCGTGCGTGCATGTGTGCGTGTTGCGTGTCTGCGTGTGTGTGCTGCTGCCACCGCAGCATGTCTGTAACGCGTGTGGGCACCGTTGCTGCTGTTGTGTGCCGTCTGTGCAGGAGGCTGCCTTTGTGTTGAGGGTGTGCACGGCCTCACACCTGCCCTGCATGTGCTGCTGCTCCATACGGGTACGAGCCCTGCCTAGTGTCTGTCTCCTGTGTCACGGACCTGTTCAACCTCGTGCTGCTGCCAGCCTTTATCGCGACTCAGCTGTCCCTGGAACCTGCCCAGGATCCCCTGGGTCTTCTCATGAGAGCAGAGCTGTGTGGGGGGTGGGCGGTGAAGGGTACTGCCCAAGTCTCAGCGTCCCGGGTATCTGTGGATCCCGCCATGCCCAGAGCCGGTGTCGGAGGCTGGCAGGAGGGAGAAGCCCGCCCTTTGCCATGAGAGGCTGTCTTTTCTTTGGTTGGGCTGCACTTGGAGCCTGGATGGAGTGGAGGGGGCCACCAGTCATTCCTCATATTCCAGCCAGTCGCTGGCTCTGGTCCCAGGGGCCAAAGAAAAGGGCCAGGGTAACCGTAGGATCCCACCCTTTATTTCTTCCTCTGGCCGGGCTACTCCCGCCAGCCGCAGCCCCAGCCCGTTTCCTCCTGGACCCTGCCCGCTCCCCTCCGCCCGTCCCCCCTTGGCTGTGCGCCCCTCACCTGGCGCTGACCCCTCTCCCTCCGCAGGCTCTTCAGCAGCCTCGGTGAGCTGAGCTCCATTTCAGCGCAGCGCAGCGCAGCCCCGGGGGCCCGGGCGGCGGGGCCTCGTACTCGGTGAGGCCCAGTGGCCGCTACCCCGTGGCGAGACGCGCCCCGAGCCCGGTGAAGCCCGCGTCGCTGGAGCGGGTGGAGGGGCTGGGGGCGGGCGCGGGGGGCGCAGGGCGGCCCTTCGGCCTCACGCCCCCCACCATCCTCAAGTCGTCCAGCCTCTCCATCCCGCACGAGCCCAAGGAGGTGCGCTTCGTGGTGCGCAGCGTGAGCGCGCGCAGTCGCTCCCCCTCGCCGTCGCCGCTGCCCTCGCCCGCGTCCGGCCCCGGCCCCGGCGCCCCCGGCCCACGCCGACCCTTCCAGCAGAAGCCGCTGCAGCTCTGGAGCAAGTTCGACGTGGGCGACTGGCTGGAGAGCATCCACCTAGGCGAGCACCGCGACCGCTTCGAGGACCATGAGATAGAAGGCGCGCACCTACCCGCGCTTACCAAGGACGACTTCGTGGAGCTGGGCGTCACGCGCGTGGGCCACCGCATGAACATCGAGCGCGCGCTCAGGCAGCTGGACGGCAGCTGACGCCCCACCCCCACTCCCGCCCCGGCCGTGCCCTGCCGGCAGGGCCCCCCACCCCCACCCCGGGCCGCGGGCTCGGCCTGCCCCTTACGACGGCGCCCGGGCCAGGAATGTTGCATGAATCGTCCTGTTTGCTGTTGCTCGGAGACTCGCCCTGTACATTGCTTAGTGCCCTCACCGGCCGCCCAGCCCACCCAGCGCACAGTCAGGAAGGGCGTGGACCAGGGAGGCTGGGGCGGGAGGTGCCGGGGGTGGGGTGCCCTAGCGTGACCACCTCCTTCGCAGCTCCTGGTGGCCATTCTCCCAGAGGGGGAACCTAGTCCAGCATGCGAGGTCAGGACCCGCCTTGGTGACTCGGGGGGAGGGGGGAGACATTGGGATTCTCGATGGGGGCCAAGGAGCCCCCCTGTTTTGCATATTTTAATCCACTCTATATTTGGAACGAGAAAAGGAACAAATATCTCTGTCCGTAATAGTTTCCTCTCCCCTCCCTTCTACTTCCACTGGTCCCACTGCAGCTGCCCAGTCTTCCATCTCCGGCCCCTCACTGCCACTGCCACCCCACAACGGGGCAGGGGACGCTCCAGCTGGTCTGGGGTTGGCCAGGGCCCTAGTGGCCCGCCCTGGGGCCCCAGCTCGGCCCCTCGCCTCGCTGAGCTCTAGTGTGCCCCACCGACCCTTCAGGTGCTGCTCGTGGTGGGAGGGGCGGCAGGCCGCGGGTCCTGCTGTGCACCCGCGGGACCAGCCGGCCTGGGAGACCATCGGCCGGGGGGGATGAGGGCAGGGCCCTGCCGCTCCACCGCAGCCATCTTCCTCACAGGGTCTCTCCCCAAGGAGGGGGCTAGCTTGGTCCCCATGCTCTTGGGCAACTACAGCAGAGAAGCCTCCCTGCCTTGGACCCCAAAGTCTCCTGTCCTGCCCTTTATGTGTGTGGGTGAAACTGGGTGCGTCTGAGCACGTGGGAGCCGTGTGTGTGCCTGATTACTGAGTGGCCACCAGGGGCCGCTCTGGACTAGCGCGGGGCCGTGGAGGCGTGCACCGTGTGCATGCGTGGGGTGTACCTGTGAGAGCACCCTGTCTCCTCTTCCAAAGAAAGTCAGAGGCCATCCTGCACCCTGGGTCCAGCTGTTTGCCCAGCCTGTCCTTCCAGAGCCTCACCCAGCCTGAGCGGGGTTCCCTGGTGAATCCCTGCTGCTTGGGGAGGCCCCAAGGGCCCCTTGGAGGCAGCGCCCCCACCTTGGGCTTCTGAGGGCATCATAGGGGGACCCCTAGAGTCAGTTCACCACAGGCCCTGGGGAGAGTCAAAGACCCCCGAGGGTGCCCAGCCCCCCACACTGTGACTCCTCACACTCAGCGATGACCTGTGGGGTGGGGGGCCCTGGGACGTTTTTAAACCTAGGGTTTGGAGTCTGGACTAAGCTCCATCCACGTCACTCACAAGTTTCTGTTTATATTTCTAGCTTTTTTTAATAAAATAAAAAAAAAAAG
|
pathogenic
| 329,239 |
Is the chromosome X, position 634689 variant in SHOX clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Leri-Weill_dyschondrosteosis']
|
GCCCTGACTTTGTCGAAGCAGAAAGCTGTGGCTACGGTTTACAAAGCAGTCCCCGGTTTCTGACCGTCTAAGAGGCAGGAGCCCAGCCTGCCTTTGACAGTGAGAGGAGTTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCCGTGGACCCGGGAGAGCAAAGTGTCCTCCAGACCTTTCGAAAGTGAGAGGAAAATAAAGACCAGGCCAAAGACCCAGGGCCACAGGAGAGGAGACAGAGAGTCCCCGTTACATTTTCCCCTTGGCTGGGTGCAGAAAGACCCCCGGGCCAGGACTGCCACCCAGGCTACTATTTATTCATCAGATCCAAGTTAAATCGAGGTTGGAGGGCAGGGGAGAGTCTGAGGTTACCGTGGAAGCCTGGAGTTTTTGGGAACAGCGTGTCCCCGCCGAGCCTGGGAGCCCGTGGGTTCTGCAAAGCCTGCGGGTGTTTGAGGACTTTGAAGACCAGTTTGTCAGTTGGGCTCAATTCCTGGGGTTCAGACTTAGAGAAATGAAGGAGGGAGAGCTGGGGTCGTCTCCAGGAAACGATTCACTTGGGGGGAAGGAATGGAGTGTTCTTGCAGGCACGTGTCTGATAGGAGGTGAAACAGAATGTGAAATCCACGTTGGAGTAAGCGTCCAGCGCTGAATGTAGCTCGGGGTGGGGTGGGAGGGCCCTGGTGTGGATCGTGGAAGGAAGAAAGACAGAACAGGGTGCTAGTATTTACCCCGTTCCCTGTAGACACCCTGGATTTGTCAGCTTTGCAAGCTTCTTGGTTGCAGCGGCCTTGCCTGTGCCCCTTTGAGACTGTTTCCAGACTAAACTTCCAAATGTCAGCCCCTTACCCTTGACAGCAAGGGACATCTCATTAGGGCATCGCGTGCTTCTCATCTGTGCTCAGCAGGCCCGAGATAGGAACAGAGGGGCGTTGGAGATGCCACTTCCACCAGCCCTGGGTTGAAGGGGAGCGAGGGAGACACCTTTTACTTAAACCCCTGAGCTTGGTCAGAGAGGCTGAATGTCTAAAATGAGGAAGAAAAGGTTTTTCACCTGGAAACGCTTGAGGGCTGAGTCTTCTGCCCTTCTGACTCCCCCAGCAAATACAGACAGGTCACCAACTACTGGAGATGAGAAAGTGCCATTTTTGGCACACTCTGGTGGGGTAGGTGCCCGACCGCGTGTGAAAAAGTGGGAAGGAGAGATTTCTGCGCACGCGGTTCAGCCCCCAGGCGCGGTGGCGCATTCAGGTACTCAGACGCGGTTCTGCTGTTCTGCTGAGAAACAGGCTTCGGGTAGGGGCTCCTAGCTCCGCCAGATCGCGGAGGGACCCCCAGCCCTCCTGCGCTGCAGCGGTGGGGATAGCGTCTCTCCGTAGGCCTAGAATCTGCAACCCGCCCCGGGTCCTCCCCGTGTCCTTCCCGGGCGTCCCGCCGGGGATCCCACAGTTGGCAGCTCTTCCTCAAATTCTTTCCCTTAAAAATAGGATTTGACACCCCACTCTCCTTAAAAAAAAAAATAAGAAAAAAAGGTTAGGTTATGTCAACAGAGGTGAAGTGGATAATTGAGGAAACGATTCTGAGATGAGGCCAAGAAAACAACGCTCGTGCAAAGCCCAGGTTTTTGGGAAAGCAGCGAGTATCCTCCTCGGCTTTTGCCTTATGGACCCCACGCAGTTTTTGCGTCAAAGCGCATTGGTTTTCGAGGGCCCCCTTTCCACCGCGGGATGCACGAAGGGGTTCGCCACGTTGCGCAAAACCTCCCCGGCCTCAGCCCTGTGCCCTCCGCTCCCCACGCAGGGATTTATGAATGCAAAGAGAAGCGCGAGGACGTGAAGTCGGAGGACGAGGACGGGCAGACCAAGCTGAAACAGAGGCGCAGCCGCACCAACTTCACGCTGGAGCAGCTGAACGAGCTCGAGCGACTCTTCGACGAGACCCATTACCCCGACGCCTTCATGCGCGAGGAGCTCAGCCAGCGCCTGGGGCTCTCCGAGGCGCGCGTGCAGGTAGGAACCCGGGGGCGGGGGCGGGGGGCCCGGAGCCATCGCCTGGTCCTCGGGAGCGCACAGCACGCGTACAGCCACCTGCGCCCGGGCCGCCGCCGTCCCCTTCCCGGAGCGCGGGGAGGTTGGGTGAGGGACGGGCTGGGGTTCCTGGACTTTTGGAGACGCCTGAGGCCTGTAGGATGGGTTCATTGCGTTTGTTTTTCACCAACAGCAAACAAATATATATACATATATATTATACAAATAACAAATAAATATATATGTTATACAGATGGGTATATTGTATATATTATAGATATTTGTTCGTCCTTGGTGCAAAGACACCCGGTGAACCCATATATTGGCTCCTGACTGCCTTCGGTTCCCCTGGGATTGGTTATAGGGGCAACACATGCAAACAAAACTTTCCCTGGATTATACTTAGGAGACGAAGCTACAGATGCGTTTGATCCAGAGTGTTTTACAAGATTTTTCATTTAAAAAAAAATGTGTCTTTTGGCCCCTGATTCCCCTCCGTCTTCCCGTGTGGCTGCATTGAAAAGGTTTCCTTAGGATGAAAGGAGAGGGGTGTCCTCTGTCCCTAGGTGGAGAGAAACAGGGTCTTCTCTTTCCTCCGTTTTTTCACCTACCGTTTCTATCTCCCTCCTCCCCTCTCCAGCCCTGTCCTCTGCTACAAACCACCCCCTCCTCCCTCCGGCTGTGGGGAGCGCAGGAGCACGTTGGGCATCTGGATGAGCGGAGACTATTAGCGGGGCACGGGGGCTCCCCGAGGAGCGCGCGAATTCACGCTGCCCCATGAGACCAGGCACTGGGGGGCGGAGGGGCCTTGGGTGTGCGCAGAGGGACGGGCGGGCAGAGCCTTCCTCCGCATTCTAAACATTCACTTAAAGGTATGAGTTTATTTCAGGGGTGCTGCTGGGAGAGCCTCCAAATGGCTTCTTCCAGCCCCTGCCTGACAGTTCAGCTCCCCTGGAAGGTCAACTCCTCTAGTCCTTTCTCCTGGTTCTGGGCAGGACAGAAGTGGGGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGTCAGGATCCCCGGACCCTGGGGACCCCGTCAAAAATAAATGAAATTAAGATTGCCGACCAGAGAGAGAACCGTGACAAAGCAAACGGCGTTCAAAGCAAAGAGACGAACTGAAAGCCCGTTCCCGTAGGACTGGTTATGAGGTCAACACATTCAAACACAGCTTGCTCTCGATTTTGCTGAGCAGAGGAAGATACAGATGCATTTGATCCAAAGTGTGTTACATCTTTCATTATATGTGTGTCTCTATATATAAACATATATAAATATATAAACATACATAAATGTATGTAAATATATATAATCTATATACATATATAAATATATAAACACATATATAATATATAAATCTATAAACATATATAATATATAAACATAAATATATAAACATATATAATATATAAATATATTAACATATATAAAATATGTATAAATATATATAAACATATAAACATATATAAATATATAAACATATATAAATATATACAAACATATTGTATATATATAAATATATATAAAAACATATATATACATATAAAAATATATATAAACATATATACATATAAAGAAATATATATAAACATATATACATATAAAATATACATATATAAACATATATATACATAAAATATATATATAAACATATATATACATATAAAAATATATATAAACATATATACATATAAAGAAATATATATAAACATATATACATATAAAATATACATATATAAACATATATATACATATAAAGAAATATATATAAACATATATACATATAAAATATACATATATAAACATATATATACATAAAATATATATATAAACATATATATACATAAAATATATATAT
|
GCCCTGACTTTGTCGAAGCAGAAAGCTGTGGCTACGGTTTACAAAGCAGTCCCCGGTTTCTGACCGTCTAAGAGGCAGGAGCCCAGCCTGCCTTTGACAGTGAGAGGAGTTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCCGTGGACCCGGGAGAGCAAAGTGTCCTCCAGACCTTTCGAAAGTGAGAGGAAAATAAAGACCAGGCCAAAGACCCAGGGCCACAGGAGAGGAGACAGAGAGTCCCCGTTACATTTTCCCCTTGGCTGGGTGCAGAAAGACCCCCGGGCCAGGACTGCCACCCAGGCTACTATTTATTCATCAGATCCAAGTTAAATCGAGGTTGGAGGGCAGGGGAGAGTCTGAGGTTACCGTGGAAGCCTGGAGTTTTTGGGAACAGCGTGTCCCCGCCGAGCCTGGGAGCCCGTGGGTTCTGCAAAGCCTGCGGGTGTTTGAGGACTTTGAAGACCAGTTTGTCAGTTGGGCTCAATTCCTGGGGTTCAGACTTAGAGAAATGAAGGAGGGAGAGCTGGGGTCGTCTCCAGGAAACGATTCACTTGGGGGGAAGGAATGGAGTGTTCTTGCAGGCACGTGTCTGATAGGAGGTGAAACAGAATGTGAAATCCACGTTGGAGTAAGCGTCCAGCGCTGAATGTAGCTCGGGGTGGGGTGGGAGGGCCCTGGTGTGGATCGTGGAAGGAAGAAAGACAGAACAGGGTGCTAGTATTTACCCCGTTCCCTGTAGACACCCTGGATTTGTCAGCTTTGCAAGCTTCTTGGTTGCAGCGGCCTTGCCTGTGCCCCTTTGAGACTGTTTCCAGACTAAACTTCCAAATGTCAGCCCCTTACCCTTGACAGCAAGGGACATCTCATTAGGGCATCGCGTGCTTCTCATCTGTGCTCAGCAGGCCCGAGATAGGAACAGAGGGGCGTTGGAGATGCCACTTCCACCAGCCCTGGGTTGAAGGGGAGCGAGGGAGACACCTTTTACTTAAACCCCTGAGCTTGGTCAGAGAGGCTGAATGTCTAAAATGAGGAAGAAAAGGTTTTTCACCTGGAAACGCTTGAGGGCTGAGTCTTCTGCCCTTCTGACTCCCCCAGCAAATACAGACAGGTCACCAACTACTGGAGATGAGAAAGTGCCATTTTTGGCACACTCTGGTGGGGTAGGTGCCCGACCGCGTGTGAAAAAGTGGGAAGGAGAGATTTCTGCGCACGCGGTTCAGCCCCCAGGCGCGGTGGCGCATTCAGGTACTCAGACGCGGTTCTGCTGTTCTGCTGAGAAACAGGCTTCGGGTAGGGGCTCCTAGCTCCGCCAGATCGCGGAGGGACCCCCAGCCCTCCTGCGCTGCAGCGGTGGGGATAGCGTCTCTCCGTAGGCCTAGAATCTGCAACCCGCCCCGGGTCCTCCCCGTGTCCTTCCCGGGCGTCCCGCCGGGGATCCCACAGTTGGCAGCTCTTCCTCAAATTCTTTCCCTTAAAAATAGGATTTGACACCCCACTCTCCTTAAAAAAAAAAATAAGAAAAAAAGGTTAGGTTATGTCAACAGAGGTGAAGTGGATAATTGAGGAAACGATTCTGAGATGAGGCCAAGAAAACAACGCTCGTGCAAAGCCCAGGTTTTTGGGAAAGCAGCGAGTATCCTCCTCGGCTTTTGCCTTATGGACCCCACGCAGTTTTTGCGTCAAAGCGCATTGGTTTTCGAGGGCCCCCTTTCCACCGCGGGATGCACGAAGGGGTTCGCCACGTTGCGCAAAACCTCCCCGGCCTCAGCCCTGTGCCCTCCGCTCCCCACGCAGGGATTTATGAATGCAAAGAGAAGCGCGAGGACGTGAAGTCGGAGGACGAGGACGGGCAGACCAAGCTGAAACAGGCGCAGCCGCACCAACTTCACGCTGGAGCAGCTGAACGAGCTCGAGCGACTCTTCGACGAGACCCATTACCCCGACGCCTTCATGCGCGAGGAGCTCAGCCAGCGCCTGGGGCTCTCCGAGGCGCGCGTGCAGGTAGGAACCCGGGGGCGGGGGCGGGGGGCCCGGAGCCATCGCCTGGTCCTCGGGAGCGCACAGCACGCGTACAGCCACCTGCGCCCGGGCCGCCGCCGTCCCCTTCCCGGAGCGCGGGGAGGTTGGGTGAGGGACGGGCTGGGGTTCCTGGACTTTTGGAGACGCCTGAGGCCTGTAGGATGGGTTCATTGCGTTTGTTTTTCACCAACAGCAAACAAATATATATACATATATATTATACAAATAACAAATAAATATATATGTTATACAGATGGGTATATTGTATATATTATAGATATTTGTTCGTCCTTGGTGCAAAGACACCCGGTGAACCCATATATTGGCTCCTGACTGCCTTCGGTTCCCCTGGGATTGGTTATAGGGGCAACACATGCAAACAAAACTTTCCCTGGATTATACTTAGGAGACGAAGCTACAGATGCGTTTGATCCAGAGTGTTTTACAAGATTTTTCATTTAAAAAAAAATGTGTCTTTTGGCCCCTGATTCCCCTCCGTCTTCCCGTGTGGCTGCATTGAAAAGGTTTCCTTAGGATGAAAGGAGAGGGGTGTCCTCTGTCCCTAGGTGGAGAGAAACAGGGTCTTCTCTTTCCTCCGTTTTTTCACCTACCGTTTCTATCTCCCTCCTCCCCTCTCCAGCCCTGTCCTCTGCTACAAACCACCCCCTCCTCCCTCCGGCTGTGGGGAGCGCAGGAGCACGTTGGGCATCTGGATGAGCGGAGACTATTAGCGGGGCACGGGGGCTCCCCGAGGAGCGCGCGAATTCACGCTGCCCCATGAGACCAGGCACTGGGGGGCGGAGGGGCCTTGGGTGTGCGCAGAGGGACGGGCGGGCAGAGCCTTCCTCCGCATTCTAAACATTCACTTAAAGGTATGAGTTTATTTCAGGGGTGCTGCTGGGAGAGCCTCCAAATGGCTTCTTCCAGCCCCTGCCTGACAGTTCAGCTCCCCTGGAAGGTCAACTCCTCTAGTCCTTTCTCCTGGTTCTGGGCAGGACAGAAGTGGGGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGTCAGGATCCCCGGACCCTGGGGACCCCGTCAAAAATAAATGAAATTAAGATTGCCGACCAGAGAGAGAACCGTGACAAAGCAAACGGCGTTCAAAGCAAAGAGACGAACTGAAAGCCCGTTCCCGTAGGACTGGTTATGAGGTCAACACATTCAAACACAGCTTGCTCTCGATTTTGCTGAGCAGAGGAAGATACAGATGCATTTGATCCAAAGTGTGTTACATCTTTCATTATATGTGTGTCTCTATATATAAACATATATAAATATATAAACATACATAAATGTATGTAAATATATATAATCTATATACATATATAAATATATAAACACATATATAATATATAAATCTATAAACATATATAATATATAAACATAAATATATAAACATATATAATATATAAATATATTAACATATATAAAATATGTATAAATATATATAAACATATAAACATATATAAATATATAAACATATATAAATATATACAAACATATTGTATATATATAAATATATATAAAAACATATATATACATATAAAAATATATATAAACATATATACATATAAAGAAATATATATAAACATATATACATATAAAATATACATATATAAACATATATATACATAAAATATATATATAAACATATATATACATATAAAAATATATATAAACATATATACATATAAAGAAATATATATAAACATATATACATATAAAATATACATATATAAACATATATATACATATAAAGAAATATATATAAACATATATACATATAAAATATACATATATAAACATATATATACATAAAATATATATATAAACATATATATACATAAAATATATATATNN
|
pathogenic
| 329,256 |
Mutation found at chromosome X position 644479, gene SHOX (SHOX homeobox): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Langer_mesomelic_dysplasia_syndrome', 'Leri-Weill_dyschondrosteosis']
|
GGAGCGCGGAAGGTATAAACGTATAAATCATAAGTAAACAACTCAGAAATGGACCCCGAGCGCTGGTCGCCGCTAGCTCTCCAGCTCTCCCTGGCCCAGGCCCGAAGGAGAGGGGTCCGCATCCCTCCGCGGTTCTCCTCTCCTGGGTACCTGGCCTTGAGGTGGGGGAACGAGCCTACTTCTTGTACCGTCTTTTGCCGACGGCGGGACCCAGTGAAATTAGGCCGTTGGAGCCCGCAGGCCTGCCTGGCTTTGCGCACCGGAGTCTTGGGGACCTGGTGTCCCCGGGAAAAACTTGGGGACCTGGTATCCCCGGGAGAGGCTTGGGGACCTGGTGTCCCGGGAGAGGCTTGGGTACCTGGTTTCTCTGGAAGAGGCTTGGACACCTGGTGTCCTGGGAGGGCCTTTGGGACCTGGTGTCCTGGGAGAGGCTTGGAGATCTGTTGTCCTGGGAGAGGCTTGGGGACCTGGTGTCCCTGGAGAGGCTTGGGGACCTGGTGACCTTGGAGAGGCTTGGAGACCTGGTGTTCTGGGAGAGGCTTGGGGACCTGGTGTTCTGGGAGAGGCTTGGGGACCTGGTGTCTCTGGAAGAGGCTTGGACACCTGGTGACCCGGGAGGGCCTTGGGGATCTGGTGTCCCGGGAGAGCCTTGGGGACCTGGTGTCCTGGGAGAGGCTTGGGGACCTGGTGACCTTGGAGAGGCTTGGGGACCTGGTGTCCTGAAAGAGCCTTGGGGATCTGGTGTCCCAGGAGAGGCTTGGGGACCTGGTGTCTCTGGAAGAGGCTTGGACACCTGGTGTCCTGGGGAGAGGCTTGGGGACCTGGTGTCCTGGGAGAGGCTTGGGGACCTGGTGTCCTGGGAGAGGCTTGGAGATCTGGTGAGCCGGGAGAGGCTTGGGGACCTGGTGTCCCGGGAGAGGCTTGGGGACTTGGTGTCCCGGGAGAGGCTTGGACACCTGGTGTCCCAGGAGAGGCTTGGGGACCTGGTGACCTTGGAGAGGCCTGGGGACCTGGTGACCCGGGAGAGCCTTGGGGACCTGGTGTCCTGGGGAGAGCCTTGGGGACCTGGTGACCTTGGAGAGGCTTGGGGACCTGGTGTCTCGGGAGTGCCTTGGGGACCTAGTGACCCGGGAGAGGCTTGGGGACCTGGTGTCCCGGGAGAGGCTTGGGGACCTGGTGTCCTGGGAGAGCCTTGGGGATCTGGTGTCCTGGGGAGAGGCTGGGGGACCTGGTGTCTCGGGAGAGAGCCTTGGGGACCTGGTGACCCGGGAGAGGCTTGGACACCTGGTGTCCCGGGAGAGGCTTGGGGACCTGGTGACCCGGGAGAGCCTTGGGGACCTGGTGTCCTGGGGAGAGGCTGGGGGACCTGGTGTCTCGGGAGAGAGCCTTGGGGACCTGGTGACCCGGGAGAGGCTTGGACACCTGGTGTCCCGGGAGAGGCTTGGGAGCCTGGTGTCCCGGGAGAGCCTTGGGGACCAGGTGACCTTGGAGAGGCTTGGGGACCTGGTGATCTTGGAGAGGCTTGGGGACCTGGTGTCTCGGGAGAGCCTTGGTGACCTGGGGACCCGGGAGAGGCTTGGGGACCTGGTGTCCCCGGGAGAGGTTACGGGGGCTGGTTGGGGGAGAGAACGTTGTGAGCCAAAGTCCCTGAATCCCTGCGAAGAGAGCGCATCGGGAGCTCCCCCTGAGGGCGTTCCATTTGTGGACCCCCCTCCCATGCGCTTTGCAGGGAGCTGTTCGGATTCCCCTGGCCCGGCTCCCGCGGATGCATCCAGTGGCAGCGCCAATTCTGGGCCAGGGGGAAGGAGGAAAGGCGGGTGTGGGGTGGTCTCCACGGCTGGAGAAGGGGCGACGCTCCCTAGGGGAGAAGAGGCACGTTGGAGGTTTCCGGGGGCGCGGGGCGGAGCAGGCCCCCCAGTCCCCATCCTGCGCCCTCACCCCGCCGGGTCCGCTCCCGCAGGTCCAGGCTCAGCTGCAGCTGGAAGGCGTGGCCCACGCGCACCCGCACCTGCACCCGCACCTGGCGGCGCACGCGCCCTACCTGATGTTCCCCCCGCCGCCCTTCGGGCTGCCCATCGCGTCGCTGGCCGAGTCCGCCTCGGCCGCCGCCGTGGTCGCCGCCGCCGCCAAAAGCAACAGCAAGAATTCCAGCATCGCCGACCTGCGGCTCAAGGCGCGGAAGCACGCGGAGGCCCTGGGGCTCTGACCCGCCGCGCAGCCCCCCGCGCGCCCGGACTCCCGGGCTCCGCGCACCCCGCCTGCACCGCGCGTCCTGCACTCAACCCCGCCTGGAGCTCCTTCCGCGGCCACCGTGCTCCGGGCACCCCGGGAGCTCCTGCAAGAGGCCTGAGGAGGGAGGCTCCCGGGACCGTCCACGCACGACCCAGCCAGACCCTCGCGGAGATGGTGCAGAAGGCGGAGCGGGTGAGCGGCCGTGCGTCCAGCCCGGGCCTCTCCAAGGCTGCCCGTGCGTCCTGGGACCCTGGAGAAGGGTAAACCCCCGCCTGGCTGCGTCTTCCTCTGCTATACCCTATGCATGCGGTTAACTACACACGTTTGGAAGATCCTTAGAGTCTATTGAAACTGCAAAGATCCCGGAGCTGGTCTCCGATGAAAATGCCATTTCTTCGTTGCCAACGATTTTCTTTACTACCATGCTCCTTCCTTCATCCCGAGAGGCTGCGGAACGGGTGTGGATTTGAATGTGGACTTCGGAATCCCAGGAGGCAGGGGCCGGGCTCTCCTCCACCGCTCCCCCGGAGCCTCCCAGGCAGCAATAAGGAAATAGTTCTCTGGCTGAGGCTGAGGACGTGAACCGCGGGCTTTGGAAAGGGAGGGGAGGGAGACCCGAACCTCCCACGTTGGGACTCCCACGTTCCGGGGACCTGAATGAGGACCGACTTTATAACTTTTCCAGTGTTTGATTCCCAAATTGGGTCTGGTTTTGTTTTGGATTGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCTGTGTTACAGGATTCAGACGCAAAAGACTTGCATAAGAGACGGACGCGTGGTTGCAAGGTGTCATACTGATATGCAGCATTAACTTTACTGACATGGAGTGAAGTGCAATATTATAAATATTATAGATTAAAAAAAAAATAGCCGTGCACTCTTGACCCCGTCAGCGTCCAACGTGGAAAAGGCGTTACCTCTTCTCCCAGCGCTGGCCGCCTGGCCACTGAGGGCCCTTTGCAAAAATCACGGGTGTAGAGATGGCCCTGGGCGCGCTGGGAGTGTGGTTGTGTTTCTGAAGGGGATAAAAGAGGGCACGGTGGTGCCAAGATATCAGTTTGGTACCTGAGCTGTTTCTGGTTGGGAAGCGTAAAAGCCAGGGAGAGATCCAGAGAGTTTTCAAGTTTTTGCAGATGTAGGTGGTTCCAGCTTTTCTTTCTCCCCTACTCCATCTTCTGCGTTCCCCCAGTTCTTTTATTTCTTTGTTTTTTATTTTTGAGACAGAGACTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATGTCAGCTCACTGCCACCTCCGCCTCCCGGGTTCAAGCGATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACCCCCGGCTAATTTTTTGTATTTATAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTCGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAACGTGCCCCCAGTTTTATAAACAGCAGATAGCAACTTGTCGTCACAGCTGGCATGGGCTGGACAGTTGCTTGAAATGACCTAACCAAAAACATTCAAGGGTTCTGCCCCCAGATTTCGGGAGATCCACGTTCCATGTTCTGATTGGTTTTCTGGGAACACAGCAAGGGGTTTGGTGACCTCCGAGAAGATCCATCTGCATGATTGGCATTAGTTACCACAGCCTGCCCAGAGAGAAACTATCTTCTCCCAACATTTACTAACATCCACTGGTCAACTCTCTTATTTCCATAACACATTTGCATCTTTCTGGATTCAAGCTTGGTGGTTTTCTTTCCTAACTTCTGATTTAGATACTTCTCCCTGAGGT
|
GGAGCGCGGAAGGTATAAACGTATAAATCATAAGTAAACAACTCAGAAATGGACCCCGAGCGCTGGTCGCCGCTAGCTCTCCAGCTCTCCCTGGCCCAGGCCCGAAGGAGAGGGGTCCGCATCCCTCCGCGGTTCTCCTCTCCTGGGTACCTGGCCTTGAGGTGGGGGAACGAGCCTACTTCTTGTACCGTCTTTTGCCGACGGCGGGACCCAGTGAAATTAGGCCGTTGGAGCCCGCAGGCCTGCCTGGCTTTGCGCACCGGAGTCTTGGGGACCTGGTGTCCCCGGGAAAAACTTGGGGACCTGGTATCCCCGGGAGAGGCTTGGGGACCTGGTGTCCCGGGAGAGGCTTGGGTACCTGGTTTCTCTGGAAGAGGCTTGGACACCTGGTGTCCTGGGAGGGCCTTTGGGACCTGGTGTCCTGGGAGAGGCTTGGAGATCTGTTGTCCTGGGAGAGGCTTGGGGACCTGGTGTCCCTGGAGAGGCTTGGGGACCTGGTGACCTTGGAGAGGCTTGGAGACCTGGTGTTCTGGGAGAGGCTTGGGGACCTGGTGTTCTGGGAGAGGCTTGGGGACCTGGTGTCTCTGGAAGAGGCTTGGACACCTGGTGACCCGGGAGGGCCTTGGGGATCTGGTGTCCCGGGAGAGCCTTGGGGACCTGGTGTCCTGGGAGAGGCTTGGGGACCTGGTGACCTTGGAGAGGCTTGGGGACCTGGTGTCCTGAAAGAGCCTTGGGGATCTGGTGTCCCAGGAGAGGCTTGGGGACCTGGTGTCTCTGGAAGAGGCTTGGACACCTGGTGTCCTGGGGAGAGGCTTGGGGACCTGGTGTCCTGGGAGAGGCTTGGGGACCTGGTGTCCTGGGAGAGGCTTGGAGATCTGGTGAGCCGGGAGAGGCTTGGGGACCTGGTGTCCCGGGAGAGGCTTGGGGACTTGGTGTCCCGGGAGAGGCTTGGACACCTGGTGTCCCAGGAGAGGCTTGGGGACCTGGTGACCTTGGAGAGGCCTGGGGACCTGGTGACCCGGGAGAGCCTTGGGGACCTGGTGTCCTGGGGAGAGCCTTGGGGACCTGGTGACCTTGGAGAGGCTTGGGGACCTGGTGTCTCGGGAGTGCCTTGGGGACCTAGTGACCCGGGAGAGGCTTGGGGACCTGGTGTCCCGGGAGAGGCTTGGGGACCTGGTGTCCTGGGAGAGCCTTGGGGATCTGGTGTCCTGGGGAGAGGCTGGGGGACCTGGTGTCTCGGGAGAGAGCCTTGGGGACCTGGTGACCCGGGAGAGGCTTGGACACCTGGTGTCCCGGGAGAGGCTTGGGGACCTGGTGACCCGGGAGAGCCTTGGGGACCTGGTGTCCTGGGGAGAGGCTGGGGGACCTGGTGTCTCGGGAGAGAGCCTTGGGGACCTGGTGACCCGGGAGAGGCTTGGACACCTGGTGTCCCGGGAGAGGCTTGGGAGCCTGGTGTCCCGGGAGAGCCTTGGGGACCAGGTGACCTTGGAGAGGCTTGGGGACCTGGTGATCTTGGAGAGGCTTGGGGACCTGGTGTCTCGGGAGAGCCTTGGTGACCTGGGGACCCGGGAGAGGCTTGGGGACCTGGTGTCCCCGGGAGAGGTTACGGGGGCTGGTTGGGGGAGAGAACGTTGTGAGCCAAAGTCCCTGAATCCCTGCGAAGAGAGCGCATCGGGAGCTCCCCCTGAGGGCGTTCCATTTGTGGACCCCCCTCCCATGCGCTTTGCAGGGAGCTGTTCGGATTCCCCTGGCCCGGCTCCCGCGGATGCATCCAGTGGCAGCGCCAATTCTGGGCCAGGGGGAAGGAGGAAAGGCGGGTGTGGGGTGGTCTCCACGGCTGGAGAAGGGGCGACGCTCCCTAGGGGAGAAGAGGCACGTTGGAGGTTTCCGGGGGCGCGGGGCGGAGCAGGCCCCCCAGTCCCCATCCTGCGCCCTCACCCCGCCGGGTCCGCTCCCGCAGGTCCAGGCTCAGCTGCAGCTGGAAGGCGTGGCCCACGCGCACCCGCACCTGCACCCGCACCTGGCGGCGCACGCGCCCTACCTGATGTTCCCCCGCCGCCCTTCGGGCTGCCCATCGCGTCGCTGGCCGAGTCCGCCTCGGCCGCCGCCGTGGTCGCCGCCGCCGCCAAAAGCAACAGCAAGAATTCCAGCATCGCCGACCTGCGGCTCAAGGCGCGGAAGCACGCGGAGGCCCTGGGGCTCTGACCCGCCGCGCAGCCCCCCGCGCGCCCGGACTCCCGGGCTCCGCGCACCCCGCCTGCACCGCGCGTCCTGCACTCAACCCCGCCTGGAGCTCCTTCCGCGGCCACCGTGCTCCGGGCACCCCGGGAGCTCCTGCAAGAGGCCTGAGGAGGGAGGCTCCCGGGACCGTCCACGCACGACCCAGCCAGACCCTCGCGGAGATGGTGCAGAAGGCGGAGCGGGTGAGCGGCCGTGCGTCCAGCCCGGGCCTCTCCAAGGCTGCCCGTGCGTCCTGGGACCCTGGAGAAGGGTAAACCCCCGCCTGGCTGCGTCTTCCTCTGCTATACCCTATGCATGCGGTTAACTACACACGTTTGGAAGATCCTTAGAGTCTATTGAAACTGCAAAGATCCCGGAGCTGGTCTCCGATGAAAATGCCATTTCTTCGTTGCCAACGATTTTCTTTACTACCATGCTCCTTCCTTCATCCCGAGAGGCTGCGGAACGGGTGTGGATTTGAATGTGGACTTCGGAATCCCAGGAGGCAGGGGCCGGGCTCTCCTCCACCGCTCCCCCGGAGCCTCCCAGGCAGCAATAAGGAAATAGTTCTCTGGCTGAGGCTGAGGACGTGAACCGCGGGCTTTGGAAAGGGAGGGGAGGGAGACCCGAACCTCCCACGTTGGGACTCCCACGTTCCGGGGACCTGAATGAGGACCGACTTTATAACTTTTCCAGTGTTTGATTCCCAAATTGGGTCTGGTTTTGTTTTGGATTGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCTGTGTTACAGGATTCAGACGCAAAAGACTTGCATAAGAGACGGACGCGTGGTTGCAAGGTGTCATACTGATATGCAGCATTAACTTTACTGACATGGAGTGAAGTGCAATATTATAAATATTATAGATTAAAAAAAAAATAGCCGTGCACTCTTGACCCCGTCAGCGTCCAACGTGGAAAAGGCGTTACCTCTTCTCCCAGCGCTGGCCGCCTGGCCACTGAGGGCCCTTTGCAAAAATCACGGGTGTAGAGATGGCCCTGGGCGCGCTGGGAGTGTGGTTGTGTTTCTGAAGGGGATAAAAGAGGGCACGGTGGTGCCAAGATATCAGTTTGGTACCTGAGCTGTTTCTGGTTGGGAAGCGTAAAAGCCAGGGAGAGATCCAGAGAGTTTTCAAGTTTTTGCAGATGTAGGTGGTTCCAGCTTTTCTTTCTCCCCTACTCCATCTTCTGCGTTCCCCCAGTTCTTTTATTTCTTTGTTTTTTATTTTTGAGACAGAGACTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATGTCAGCTCACTGCCACCTCCGCCTCCCGGGTTCAAGCGATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACCCCCGGCTAATTTTTTGTATTTATAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTCGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAACGTGCCCCCAGTTTTATAAACAGCAGATAGCAACTTGTCGTCACAGCTGGCATGGGCTGGACAGTTGCTTGAAATGACCTAACCAAAAACATTCAAGGGTTCTGCCCCCAGATTTCGGGAGATCCACGTTCCATGTTCTGATTGGTTTTCTGGGAACACAGCAAGGGGTTTGGTGACCTCCGAGAAGATCCATCTGCATGATTGGCATTAGTTACCACAGCCTGCCCAGAGAGAAACTATCTTCTCCCAACATTTACTAACATCCACTGGTCAACTCTCTTATTTCCATAACACATTTGCATCTTTCTGGATTCAAGCTTGGTGGTTTTCTTTCCTAACTTCTGATTTAGATACTTCTCCCTGAGGTN
|
pathogenic
| 329,268 |
For chromosome X, position 1288903, gene CSF2RA (colony stimulating factor 2 receptor subunit alpha): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
GTTGTCAGTGTGTCACCGTCCTGGTTCCCCAAGGGATTAAGGTCAGGGTTTTTGGAACACAGGAGACAGAGACAGAAGAGCGGGGAGAGGGGAGGGAAGGAGGGAGAAACACAGAGAAAGGATAGAAGGAGGAGGGAGAGGAAGAGAGAAATATGGATGATCGATAGATAGGTGATAGATGATTTATTGACTGATAGGTGATAATAGATGATTGGAAGATTGATAATCAATTCTATAGGTAGATGCTACACGGAGGGATGGGTGGTCTTGCTATGTTACCCCAGATGACATACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTACACTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTATCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACCGTGTCCGACCTTTATTTTTTGGGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGCGTGATCTCAGCTCCCTGCAACCTGTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGCATTACAGGTGTGAGCCACTATGTCCGACCCTTTTTTTGGGGGGATGGAGTCTCTGTCTGTCACCCAGGCTGGAGTGCACTGGCGTGATCTCAGCTCACTGCAACCTGTGCCTCCTGGGTTCAAGAGAGTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGTGCCTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACGGCACCTGGCCTCTAGTCTGGTACTTTCAGCACTGCTAGAGTATAAGATTGAGTTTTCACCTGCAAGCTGGTATTCAGCGTATCCACTCAGAGCCCTCGGAGGAAGCTTAGGGGGATGATTTCACAAAGGGAGGCAGGTGCGTGTCGCCAAATCCAGGTAAAAACCAATACCATGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTACAAATACACAAATTAGCAGGGTGTGGTGGCGGGTGTCTGTAATCCGAGCTACTCGGGAGGCTGAGGCGGGAGAATTGCTTGAACCTGGAAGGCGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGAGACTGTAGGAGACAGAAGGTTGTTTCCTAATCGGCTCTGTCTGGTTGCAATTCTTCAGCTCAGTAACAACGAATGTTCGTGCACATTTCGTGAAATTTGTCTGCATGAAGGAGTCACATTTGAGGTTCACGTGAATACTAGTCAAAGAGGATTTCAACAGAAACTGCTTTATCCAAATTCAGGTAAGCAAGACAGCTCAGGGATCCGTTTACAGCACTGGCCCCACCACCCCGCCAGCATCAAAGTACATCCCGTTGAACTTCGGAGTGAAAATTATTTTGTTTCTACCTCTTCCCAGGAAGGGAGGGTACCGCTGCTCAGAATTTCTCCTGTTTCATCTACAATGCGGATTTAATGAACTGTACCTGGGCGAGGGGTCCGACGGCCCCCCGTGACGTCCAGTATTTTTTGTACATACGAAACTCAAAGTAAGTGTTCACCTCATGTGAAGAATTATGAGGAATGCAGGGATGGGAGAAAAAATCATGCTGGTTTTCTTTTTTTCCTTTTTCTTTTTTTAAGACATGGTCTTGCTCTGTTGCCCAGGCTGCAATGCAATGGTGCCACCTCGGCTCACTGCAACCTCGACCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACACCAGGCCACATCTATGTATTTAGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGATGTGATCTCAGCTCCCTGCAACCTGCGCCTCCCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACTCCACCACACCTGTCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCTGCCTGCCTCAACCTCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTGTTTTTTTGGTTGTTGTTTTGTTTTGTGTTTTTTGTTTTGTTTTGTGTTTCTTTTTGTTTTGCCTTGTGTTTTTGTGTTCTTGTTTTGTTTTGTGTTTCTGTGTTTTTCTTTTGTTTTTGTGTTTTTTTGGTTTCACGTTTTTGTGGTGTTTTGTGTTTTTGTGTTTTTGTTTTTTGTGTTTGTTTTTGTTTTGTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTTTTGTGGTTTTTGTTTTGTGTTGTGTTTGTTTTTGTTTTGTGTTTTTTTGTTTGTGTTTTGGTGTTTTTGTTTTGTGGTTTTCTTTTGTGTTTGTTTTTGTTTTGTGTTTTTGTGTTTTTGTTTCATTTTGTTTTGTTTTGTGTTTTTGTGTTTTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTTTTGTGTTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGTTTTGTTTTGTTTTGTGTTTTTGTGTTTTGTTTTTGTGTTTTGTTTTGTTTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTTTTGTGTTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTGTTTTGTGTTTTTGTGTTTTGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGTTTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTTTTGTGTTTTTGTGTTTTGTTTTGTTTTCCTGATTGCTCTCTGAGCACTTTCTAATCTTTCAGGAGAAGGAGGGAGATCCGGTGTCCTTATTACATACAAGACTCAGGAACCCATGTGGGATGTCACCTGGATAACCTGTCAGGATTAACGTCTCGCAATTACTTTCTGGTTAACGGAACCAGCCGAGAAATTGGCATCCAATTCTTTGATTCACTTTTGGACACAAAGAAAATAGGTGAGAATAACACATATGATTTTCCTATTGTTTATAGGTGAAATGGAATTTGCCTTAAAATCTGTGTAACTGAGGCCACGTGCGGTGTCTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGATCGGGTGTTCAAAACCAGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGAGAATCACTCAAACCTAGGAGGCGGACGTTGCAATGAGGTGAGATTGTGCCACTGCACTCCAGCTTGAGCGACAGAGCAAGACTCTGTCTCAAAAACAAACAAACAAAAATCTGTGTAACTTTGGTGCTGTAACAAATTAGAACTGAGCTGATTTAACTTTCCTTTTTTTGAGATAGAGTC
|
GTTGTCAGTGTGTCACCGTCCTGGTTCCCCAAGGGATTAAGGTCAGGGTTTTTGGAACACAGGAGACAGAGACAGAAGAGCGGGGAGAGGGGAGGGAAGGAGGGAGAAACACAGAGAAAGGATAGAAGGAGGAGGGAGAGGAAGAGAGAAATATGGATGATCGATAGATAGGTGATAGATGATTTATTGACTGATAGGTGATAATAGATGATTGGAAGATTGATAATCAATTCTATAGGTAGATGCTACACGGAGGGATGGGTGGTCTTGCTATGTTACCCCAGATGACATACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTACACTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTATCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACCGTGTCCGACCTTTATTTTTTGGGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGCGTGATCTCAGCTCCCTGCAACCTGTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGCATTACAGGTGTGAGCCACTATGTCCGACCCTTTTTTTGGGGGGATGGAGTCTCTGTCTGTCACCCAGGCTGGAGTGCACTGGCGTGATCTCAGCTCACTGCAACCTGTGCCTCCTGGGTTCAAGAGAGTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGTGCCTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACGGCACCTGGCCTCTAGTCTGGTACTTTCAGCACTGCTAGAGTATAAGATTGAGTTTTCACCTGCAAGCTGGTATTCAGCGTATCCACTCAGAGCCCTCGGAGGAAGCTTAGGGGGATGATTTCACAAAGGGAGGCAGGTGCGTGTCGCCAAATCCAGGTAAAAACCAATACCATGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTACAAATACACAAATTAGCAGGGTGTGGTGGCGGGTGTCTGTAATCCGAGCTACTCGGGAGGCTGAGGCGGGAGAATTGCTTGAACCTGGAAGGCGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGAGACTGTAGGAGACAGAAGGTTGTTTCCTAATCGGCTCTGTCTGGTTGCAATTCTTCAGCTCAGTAACAACGAATGTTCGTGCACATTTCGTGAAATTTGTCTGCATGAAGGAGTCACATTTGAGGTTCACGTGAATACTAGTCAAAGAGGATTTCAACAGAAACTGCTTTATCCAAATTCAGGTAAGCAAGACAGCTCAGGGATCCGTTTACAGCACTGGCCCCACCACCCCGCCAGCATCAAAGTACATCCCGTTGAACTTCGGAGTGAAAATTATTTTGTTTCTACCTCTTCCCAGGAAGGGAGGGTACCGCTGCTCAGAATTTCTCCTGTTTCATCTACAATGCGGATTTAATGAACTGTACCTGGGCGAGGGGTCCGACGGCCCCCCGTGACGTCCAGTATTTTTTGTACATACGAAACTCAAAGTAAGTGTTCACCTCGTGAAGAATTATGAGGAATGCAGGGATGGGAGAAAAAATCATGCTGGTTTTCTTTTTTTCCTTTTTCTTTTTTTAAGACATGGTCTTGCTCTGTTGCCCAGGCTGCAATGCAATGGTGCCACCTCGGCTCACTGCAACCTCGACCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACACCAGGCCACATCTATGTATTTAGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGATGTGATCTCAGCTCCCTGCAACCTGCGCCTCCCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACTCCACCACACCTGTCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCTGCCTGCCTCAACCTCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTGTTTTTTTGGTTGTTGTTTTGTTTTGTGTTTTTTGTTTTGTTTTGTGTTTCTTTTTGTTTTGCCTTGTGTTTTTGTGTTCTTGTTTTGTTTTGTGTTTCTGTGTTTTTCTTTTGTTTTTGTGTTTTTTTGGTTTCACGTTTTTGTGGTGTTTTGTGTTTTTGTGTTTTTGTTTTTTGTGTTTGTTTTTGTTTTGTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTTTTGTGGTTTTTGTTTTGTGTTGTGTTTGTTTTTGTTTTGTGTTTTTTTGTTTGTGTTTTGGTGTTTTTGTTTTGTGGTTTTCTTTTGTGTTTGTTTTTGTTTTGTGTTTTTGTGTTTTTGTTTCATTTTGTTTTGTTTTGTGTTTTTGTGTTTTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTTTTGTGTTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGTTTTGTTTTGTTTTGTGTTTTTGTGTTTTGTTTTTGTGTTTTGTTTTGTTTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTTTTGTGTTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTGTTTTGTGTTTTTGTGTTTTGTTTTGTTTTGTGTTTTTGTTTTGTTTTGTGTTTTTGATTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTGTTTTGTGTTTTTATGTTTTGTTTTGTGTTTGTTTTCGTTTTGTTTTGTGTTTTTGTTTTGTGTTTTGTGTTTTTGTGGGTTTTTTTTGTTTTGTGTTTTTGTTTTGTGTTTTTGTGTTTTGTGTTTTTGTGTTTTGTTTTGTGTTTGTTTTTGTTTTGTTTTGTGTTTTTGTGTTTTGTTTTGTTTTCCTGATTGCTCTCTGAGCACTTTCTAATCTTTCAGGAGAAGGAGGGAGATCCGGTGTCCTTATTACATACAAGACTCAGGAACCCATGTGGGATGTCACCTGGATAACCTGTCAGGATTAACGTCTCGCAATTACTTTCTGGTTAACGGAACCAGCCGAGAAATTGGCATCCAATTCTTTGATTCACTTTTGGACACAAAGAAAATAGGTGAGAATAACACATATGATTTTCCTATTGTTTATAGGTGAAATGGAATTTGCCTTAAAATCTGTGTAACTGAGGCCACGTGCGGTGTCTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGATCGGGTGTTCAAAACCAGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGAGAATCACTCAAACCTAGGAGGCGGACGTTGCAATGAGGTGAGATTGTGCCACTGCACTCCAGCTTGAGCGACAGAGCAAGACTCTGTCTCAAAAACAAACAAACAAAAATCTGTGTAACTTTGGTGCTGTAACAAATTAGAACTGAGCTGATTTAACTTTCCTTTTTTTGAGATAGAGTCNN
|
benign
| 329,309 |
Assess the variant on chromosome X, position 1294453, impacting CSF2RA (colony stimulating factor 2 receptor subunit alpha): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
benign
|
CCGGCGCTCAGCATACGGAGGACCTGCACCGGTCTCTGAGTTCTCTCAGTATTTATTGCTTACTATTTTCACTATCTTGGCAAGGGGAATGTGGCAGGAGGACAGGGTGATAGTGGGGAGAAGGTCAGCAGGAAGACATATGAGCAAAGGAATCTGTGTCACAAATAAGTTCAAGGGAAGCTACTATGCCTGGATGCACACGCAGGCCAGATTTATGCTTCTCTCCACACAAACATCAGTGTAGCAAAGAGTCACAGAGCAGTATTGCCACCAGCATATCTCGCCTCCAGCCACAGGGCGGTTTTCTCCTGTCTCAGAATAGAACGAATGTACGATCGGGTTTTACACGGAGACATTCCATTCCCAGGGGCAGGCAGGAGACGGAGGGCTTCCTCTTATCTCAACCGCGAGAGGACTTCCTCCTCGGCACAGACCCTTTATGGATGTCGGGCTGGGGGACGGTCAGGTCTTTTTCCCTTCCCACGAGGCCATATCTCAGACTGTCTCAGTGGGGGGAACCCTCAGACAATACCCGGGCTCTCTCGGGCAGAGGTCCCTGCGGCTTTCCGCAGTGCATGGTGTCCCTGGTTAATAGAGAATGGAGAATGGCGATGACTTTTACCAAGCATGCTGCCTGCAAACCTATTGTTAACAAGACACAGCACATGTTTCTGTGAGCACAGTGTTGGGGCTACAGTTACAGCTTAACAGCATCTCAAGGCAAAACAGTGGTTCAACATACAGATCACAATGGAGTTTCTTACCTTCCTTTCTACATAGACACAGTAACAGTCTGATCTTTCTTTTTGTTTGTTTGTTTGTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCACCCAGGCTGGAGGGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTTGGATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCTGATCTCTCTTTCTTTTCCCTACACAGAGTAGACAAAGAGGTGTCCCTACTCCACATTTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGCGTAGACAAAGAGGTGTTTCTACTCCATATCTACCTGGACCCAGTGTAGATGGGAGGAGACCCTGCCCCATCTCCACCTGGACCCAGTGTAGACAAAGAGGTGTCCCTAGTCCACATCCACCTGGACCGAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAGAAGACTCTGCACCACCTCCACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAGAAGACTCTGCCCCATCTCCACCTGGACCCAGCGTAGACAAAGAGGTGTTTCTACTCCATATCTACCTGGACCCAGTGTAGATGGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAGAAGACTGCACCACCTCCACCTGGACCGAGTGTAGACAGGAGGAGACCCTGCCCCACCTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCATCTCCACCTGGACCCAGTGTAGTCAAAGAGGTGTCCCTACTCCACCTCCACCTGGACCCAGTGTAGACAGGACCTACTCCACCTCCACCTGGACCCAGTGTAGACAGGAGGAGACTCTGCACCACCTCCACCTGGACCCAGTGTAGACAGGACCTCTCGGGTTCAGGGGTGTGTCCTGCGCCCTCGTTACAGAACGATTCAACCCTCCCAGCAATGTCACCGTACGTTGCAACACGACGCACTGCCTCGTACGGTGGAAACAGCCCAGGACCTATCAGAAGCTGTCGTACCTGGACTTTCAGTACCAGCTGGACGTCCACAGAAAGGTCGGTGAGAGCTCCCCGGGGCTGGGCACCAGGAGGGAGGCGTACGGGACACGCCCGCACAGGAGCCTGGGAATCCCGGGGAAGTGGCCTGGGGGAAGGATGCGTGGGTGGTGAGCGGTGACTCTGGGGTGAACGCACTTCGGGTAGCGGAGGAAGAGGTGAAGGGTCTGTGGCCTGTGGAGCCACCTTGAAAGAGGTTGCAGGGAGGGTGGACAAGGATGATCCTGCAACCATGGAACCAGGAAGTGGACCGGGAGGTGTGGGGGACGATGCCACAAGCAAGGAGAGCCTCTGCTCCACCTCCAGCTGGACGCAGTGTAGACAGAAGGAGACCCTGCCCCATGTCTACCTGGACCCAGTGTAGATAGGAGGACACCCGACCCCACCTCCACCTACACCCAGTGTAGACAGGAGGAGACCCTGCTCCACCTCCATGGAGACCCAGTGTAGACAGGAGGAGTTCTTGTCCCACAACTACCTGGACCCAGTGTAGACAGGGAGAGAGACTGCCTCACGTCCACCTCGATCCAGTGTAGACAAGAGGAGATCTTGTCTCACAACCTCCTGGACCCAGTGTAGACAAGAAGAGACCCTGCCCCATGTCCACCTCGAGCCAGTGTAGACAAGAGGAGATCTTGTCCCACAACCACCTGGACCCAGTGTAGACAAGAAGGAGAGCCTGCTCCATGTCTACCTGGACGACAGGAGAACACCCTGCCCCAAGGCCAGTGGGACCTTTCTGGATGGGTTACAGGAAGATATCTGGCCAGGAAGACTTCTGTGTTTGCAGCTCCTCATCCTACCTGTCTTGTAGATTCGGGGTTTGTGGAGGGAGACCTGCCTGCCACTCCGCAGGGACTCCTTCCCATTCGGTGCCCACACCAGGGGAGACACTGTGTGAACCATCTACAGTGTTTTAGAAATGGAAACAGTGAGCCTTGTGTTGTGTTTTGTTTTGTTTCTAGAATACCCAGCCTGGCACGGAAAACCTACTGGTAAGTGAAACCACAGACCCTACTGACAACCCTCAGCGTAACCCTACGGTCCCCTACTCACCACACCTAGTGTAACTCTACAGTCCCCTACTCATGACCCCTACAGTCCCCTACCGACGACCTCCAGCGTAACCCTACGGTCCCCTACTCACCACACCTAGTGTAACTCTACAGTCCCCTACTCATGACCCCTACAGTCCCCTACTGACGACCTCCAGCGTAACCCTACAGTCCCCTACTCACCACACCTAGTGTAAGGAGGAGGAGACCCTGCCCCACCTCCACAGAGACCCAGTATAGACAGGAGGAGCTCTTGTCCCACAACCACCTGGACCCCGTGTAGACAGGAAGAGACCCTGCCCCACGTCCACCTAGCTTAATCCTACAGTCCCCTACTCACCACACCTAATGTAACTCTACAGTCCCCTACTCATGACCCCTACAGTCCCCTACCGATGACCTCCAGCGTAACCCTACAGTCCCCTACTCACCACATCTAGTGTAACTCTACAGTCCCCTACTCACGACCCCCGGAGTAATCCTACAGTCTCCTACTCACGACGCCTACAGTTCCCTATTCATGACCCCTAGCGTAACCATACAGTCCCCTACCCATGAGCCCTGGCATAACCCTACAATCCCCTACTCACCACACCTAGCATAAACCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTAGTCACTACACCTAGTGTAACTAACCATACAGTTCCCTATCCATGACCTCTGGCGGAACCCTACACTCCCCTACTCACAACCCCTAGTGTAACCCTACAGTCTCCTACCCATGACCCCTGGCGGAACTGTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCGTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTC
|
CCGGCGCTCAGCATACGGAGGACCTGCACCGGTCTCTGAGTTCTCTCAGTATTTATTGCTTACTATTTTCACTATCTTGGCAAGGGGAATGTGGCAGGAGGACAGGGTGATAGTGGGGAGAAGGTCAGCAGGAAGACATATGAGCAAAGGAATCTGTGTCACAAATAAGTTCAAGGGAAGCTACTATGCCTGGATGCACACGCAGGCCAGATTTATGCTTCTCTCCACACAAACATCAGTGTAGCAAAGAGTCACAGAGCAGTATTGCCACCAGCATATCTCGCCTCCAGCCACAGGGCGGTTTTCTCCTGTCTCAGAATAGAACGAATGTACGATCGGGTTTTACACGGAGACATTCCATTCCCAGGGGCAGGCAGGAGACGGAGGGCTTCCTCTTATCTCAACCGCGAGAGGACTTCCTCCTCGGCACAGACCCTTTATGGATGTCGGGCTGGGGGACGGTCAGGTCTTTTTCCCTTCCCACGAGGCCATATCTCAGACTGTCTCAGTGGGGGGAACCCTCAGACAATACCCGGGCTCTCTCGGGCAGAGGTCCCTGCGGCTTTCCGCAGTGCATGGTGTCCCTGGTTAATAGAGAATGGAGAATGGCGATGACTTTTACCAAGCATGCTGCCTGCAAACCTATTGTTAACAAGACACAGCACATGTTTCTGTGAGCACAGTGTTGGGGCTACAGTTACAGCTTAACAGCATCTCAAGGCAAAACAGTGGTTCAACATACAGATCACAATGGAGTTTCTTACCTTCCTTTCTACATAGACACAGTAACAGTCTGATCTTTCTTTTTGTTTGTTTGTTTGTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCACCCAGGCTGGAGGGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTTGGATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCTGATCTCTCTTTCTTTTCCCTACACAGAGTAGACAAAGAGGTGTCCCTACTCCACATTTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGCGTAGACAAAGAGGTGTTTCTACTCCATATCTACCTGGACCCAGTGTAGATGGGAGGAGACCCTGCCCCATCTCCACCTGGACCCAGTGTAGACAAAGAGGTGTCCCTAGTCCACATCCACCTGGACCGAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAGAAGACTCTGCACCACCTCCACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAGAAGACTCTGCCCCATCTCCACCTGGACCCAGCGTAGACAAAGAGGTGTTTCTACTCCATATCTACCTGGACCCAGTGTAGATGGGAGGAGACCCTGCCCCACCTCCACCTGGACCCAGTGTAGACAGGAGAAGACTGCACCACCTCCACCTGGACCGAGTGTAGACAGGAGGAGACCCTGCCCCACCTCTACCTGGACCCAGTGTAGACAGGAGGAGACCCTGCCCCATCTCCACCTGGACCCAGTGTAGTCAAAGAGGTGTCCCTACTCCACCTCCACCTGGACCCAGTGTAGACAGGACCTACTCCACCTCCACCTGGACCCAGTGTAGACAGGAGGAGACTCTGCACCACCTCCACCTGGACCCAGTGTAGACAGGACCTCTCGGGTTCAGGGGTGTGTCCTGCGCCCTCGTTACAGAACGATTCAACCCTCCCAGCAATGTCACCGTACGTTGCAACACGACGCACTGCCTCGTACGGTGGAAACAGCCCAGGACCTATCAGAAGCTGTCGTACCTGGACTTTCAGTACCAGCTGGACGTCCACAGAAAGGTCGGTGAGACAGAAAGGTCGGTGAGAGCTCCCCGGGGCTGGGCACCAGGAGGGAGGCGTACGGGACACGCCCGCACAGGAGCCTGGGAATCCCGGGGAAGTGGCCTGGGGGAAGGATGCGTGGGTGGTGAGCGGTGACTCTGGGGTGAACGCACTTCGGGTAGCGGAGGAAGAGGTGAAGGGTCTGTGGCCTGTGGAGCCACCTTGAAAGAGGTTGCAGGGAGGGTGGACAAGGATGATCCTGCAACCATGGAACCAGGAAGTGGACCGGGAGGTGTGGGGGACGATGCCACAAGCAAGGAGAGCCTCTGCTCCACCTCCAGCTGGACGCAGTGTAGACAGAAGGAGACCCTGCCCCATGTCTACCTGGACCCAGTGTAGATAGGAGGACACCCGACCCCACCTCCACCTACACCCAGTGTAGACAGGAGGAGACCCTGCTCCACCTCCATGGAGACCCAGTGTAGACAGGAGGAGTTCTTGTCCCACAACTACCTGGACCCAGTGTAGACAGGGAGAGAGACTGCCTCACGTCCACCTCGATCCAGTGTAGACAAGAGGAGATCTTGTCTCACAACCTCCTGGACCCAGTGTAGACAAGAAGAGACCCTGCCCCATGTCCACCTCGAGCCAGTGTAGACAAGAGGAGATCTTGTCCCACAACCACCTGGACCCAGTGTAGACAAGAAGGAGAGCCTGCTCCATGTCTACCTGGACGACAGGAGAACACCCTGCCCCAAGGCCAGTGGGACCTTTCTGGATGGGTTACAGGAAGATATCTGGCCAGGAAGACTTCTGTGTTTGCAGCTCCTCATCCTACCTGTCTTGTAGATTCGGGGTTTGTGGAGGGAGACCTGCCTGCCACTCCGCAGGGACTCCTTCCCATTCGGTGCCCACACCAGGGGAGACACTGTGTGAACCATCTACAGTGTTTTAGAAATGGAAACAGTGAGCCTTGTGTTGTGTTTTGTTTTGTTTCTAGAATACCCAGCCTGGCACGGAAAACCTACTGGTAAGTGAAACCACAGACCCTACTGACAACCCTCAGCGTAACCCTACGGTCCCCTACTCACCACACCTAGTGTAACTCTACAGTCCCCTACTCATGACCCCTACAGTCCCCTACCGACGACCTCCAGCGTAACCCTACGGTCCCCTACTCACCACACCTAGTGTAACTCTACAGTCCCCTACTCATGACCCCTACAGTCCCCTACTGACGACCTCCAGCGTAACCCTACAGTCCCCTACTCACCACACCTAGTGTAAGGAGGAGGAGACCCTGCCCCACCTCCACAGAGACCCAGTATAGACAGGAGGAGCTCTTGTCCCACAACCACCTGGACCCCGTGTAGACAGGAAGAGACCCTGCCCCACGTCCACCTAGCTTAATCCTACAGTCCCCTACTCACCACACCTAATGTAACTCTACAGTCCCCTACTCATGACCCCTACAGTCCCCTACCGATGACCTCCAGCGTAACCCTACAGTCCCCTACTCACCACATCTAGTGTAACTCTACAGTCCCCTACTCACGACCCCCGGAGTAATCCTACAGTCTCCTACTCACGACGCCTACAGTTCCCTATTCATGACCCCTAGCGTAACCATACAGTCCCCTACCCATGAGCCCTGGCATAACCCTACAATCCCCTACTCACCACACCTAGCATAAACCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTAGTCACTACACCTAGTGTAACTAACCATACAGTTCCCTATCCATGACCTCTGGCGGAACCCTACACTCCCCTACTCACAACCCCTAGTGTAACCCTACAGTCTCCTACCCATGACCCCTGGCGGAACTGTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCGTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCGTACAGTCCCCTACTC
|
benign
| 329,328 |
Variant at chromosome position 2938380, chromosome X, gene ARSL (arylsulfatase L): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
AAAAAAAGAGACTAGAAAAGTCTTGAACACATGTGTGTGCAAGCATGTGTGCGTGCGTGTGTGTATGCATGCACATACGTGTGTGTGATGATGATAAAAGTTGCACTTCATATAGTGCAGGGAAGAAAGAATGAAATATAGCCCATACATGGTGCTGAAACTATAGGTAACGACTCCCCATCGTTTTAAGACGATTGGCAGGTGATCTCAGAAGGCATGTCGCTGGAATGAGAGGGACACATATTGACAAAAACTAAATTTAAAAAGCTCGTGGAGAAAAACGGAAGTGCGGAGACATGGAGATGGACTCTGGAATGCAGCTCCATCCCTAGCCTGTTCTAGGGCATGGTGCTTTCCTGCACAGAGGGACTCTTTCCCTAAGGGTGTTAGGAAGGGGCTCCCCTACTCACTGTCCCGTTGATGCCACCTGGCTGCGTGCAGAAACCTCTCACAATAATGCATCAGGAACTCGTGGTCTGAGTGTTGGGCTGTCCCCAGGAGCAAGGGCAGAAGGTCTTGGCCGTCAATCACTCTGCAGGAAGGAACATGGCATGGCTCAGGGTTGGAACAGGGACTCTGGACATTTGTCCCTCCAGCATCCACCAGTCCCAGCCCCAGGTGGTGCACTCTCCTTATGTTGTATCAGTGGAGGGAAAGTCTGGGTGTGAACGCAGATGGATGGAAGGCATGTGTGTGCATTAGCACGCTTAGAAGAAGAATGCAGCAGCTGCCCACGTTAGTCACCACCAAACGTCACCTTTGGCTAAAAAGTAATTAATTGGCCAGGCACAGTGGCTCGTGCGTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAATTCGGGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCAACTAAAAACACAAAAATTAGCCAGGTGTGCTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCTAGATCGCACCACTGCACTCCAGCCTGGGCAACTGAGTGAGACTCAGTCTCAAAAAAAAAAAAAGAAGAAAAAAAAGCTGAAAGAGCCAGCACCCAAAGGCTGGAATGTAACAAAAGCCCACTAAGAGTTCTACCCAGGCCTTTCCTGGACCTTGAAGCGCGATAAAATAATGAAGGGATTCTTAACAGGACCCATTTAGGATTAAACAAGTTTTATTGGGGATCTGAAGGAACTCCCCAGACCTCCACAAACAAGTTTTATTGGGGGGTCTAAAAGAACTCCCCAAACCTCCATGATTTAGCAGGAGACAAGATAAGGGTAATCACCCCAGCACCTGGAACCATCTAGATTAAGTCAACTTACTGAGGCTCCAGAGGAAGGTCCTCAGGACTCAGACCTTAGTTCTAGATGAAAGGAAGTTGAATCACTTATGTCTTTAGATGGATGCACGCTTACATGTGGACATACAGCTTAGAAGGTATAGAAGCTCTGGAAAACTTTGTAATTTTGAGTTGGTCTAGTGATCATTTCCAGCCTTCTCCCCGTATCTGGTTACAGAAATAAAACTCCTTTCTTTCCTCGTTCATTTGCATCTCGTTATTGGGCCATGAGAATAAGCAGCCCGACCCTCGGTTTGGTCGGGGAACAATTTCAGGGACGCCTTACTGCAAAGCCAAAGTGACATGTTCATTTGCCATAAGTGTTGCTGTGTCTGTGCAAAGCTGAATTGTTTCTTTGGGTTGTTCTGTACCTGTCCTGGGGCACCTCGCCGCCCGCCAGCCGGACCACGGTGGGGAACACGTCCATCAGACTCGTGGGCTCGCCAATCACTCGGCCGGCCGGGAGCACCCCGGGCCAGCGGAAGATCCCGGGCACGCGGATCCCACCTTCCCATCCTCCCATGCCCTTCCCACCTGGGTTTGAACAGAAACAAAAGAAAGTGGTTAAAAACCAGAAATAGATGCTCAGCCTGGCTGATTTAACTTTTCTGCTTGTTTCACTTGTTTGAAGTTTCTCTCTCCCTGAGTCTCTCAATTTCTCTCTCTCTCTCTCTCTGTTTTAGTGACATTAAAACATTCAATCTCATGTAGTTCCCCTGTAGAGGTTTGATTTTATATTTTTTATTAACCTTGTTATTGGTTAGTGTGCATTGGATTAAGTTAGGTCCTTCACTACAAATGACTCTTGTTCTTAGAAGACACAGACACAGAGGAGAAGGCCATGTGGAGACGGAGGCAAAGACTGGAGTGATGTGGCCACAAGCCCAGGGACTCCTGGAACCCCCAGGCGCTGGGAGCAGCAGGAAGGATCCTCCCCTAGAGCCTCAAGAAGAAAGTGGATACAACTATAACGTATTGAACAGTGACCCCAAAACATGTTCATGTCATATCTCCCAGAGCCTATAAATGAGACTTTATTTGGAAATAGGGGGTTTGCAGATATAATCAAGTTAAGGACCTTGAGATAATCCTGGATTAGGGTGGCCCTAAATGCAATGACAGATGTCCTTCTAAGAGACAGAAGAGGAGACACGGACACAGAGAAGAAGGTCACGTGGAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGATGCCTGGAGCCCCCGGTAACTGGGAGAGGCAGGAAGGAGCCTCCCCTAGAGCATCCAGAAAGAAGTGGATTCAATTGCAATGGATTGCACTTTAGTCCTCCTGAAACATATATCCACACCCTGATCCCCAGATTCTGTGAATGGGACCTTATTTTAAAAAGGGGTCCTTGTAGATGCAATTAAGTATCTCAAGATCGTCGCGGAGAAGGATGGACTCTAAGTCCAATGACAGCATTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACATAGAGACGGAGGCAGAGACTGGAGTGATGTGGCCACAAGCTCAGGGACACCTGGGGCCCCCAGGAGTTGGCAGAGGCAGGGAGGAGCCTCCCCTAGAGCTTCTGGCGGGAACATTTCCCTGAGACACGTTGATCTCAAACTCCTGGTCTCCAGGGCTGGGACAGGATAAATTCCTGTTGTTTAAAGCTCCGCCAGTTTATAATACTGACATTCTTGATGGCACAGAGAACCAGATTGGGTAGAGGATACATTAACGTCAATGGCAATGAGATAAAGAAGGTTTCTGAGGAGTCAGGCCTTCAATGTGAAGTTGTTGTGGGAAGGCATTAGTGGATGTAGTTGGCATTTATATATCCCGTTTTACATATGTACTAGACTGATGGATCCATCTACTTCAAAGCAAATATACATCATAGGTATATTTGCCAATATTAGCCTAAAAAGGCTCTTTCAAGGACTGAAAAATAAAGCTCTCTAAGCAGGGAGAAGACAAAATGTGTAAGCACAACAGTGTGAAGTCATGTACACGGGGCAGCACATTTTAGCATCTTTGTGGTACACGAAAGAATGGCGTGTTTGGAAACAATGGAATACAGGTTTGAATATAATGTGGCCAGCTAGGTGTCTACCCTTCTACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCACCCAGGCGAGAGTGCAGTGGCACAATCTCAGCTGACTGCAACCTTCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTCAGCTGGGATTACAGGCGTGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGAGAGCCACTGCGCCTGGCCTTATCCTTCTTGGATGCATTGTCTGAAGGTAAAATTCAAACCTGAGTCCACACAATGGAATATATTCAGCCATGGAAAGGAATGAAACATTTCCACAACACAGATGAACCTCAGAGGCATCATGCTAAGTAAAAACAAAAAAACTCCACATATTGCATGATTTCATTTACATAAATGTCTAGAGTAGGAAAATATACAATGATACAAAATAATTTTGTGGCCAGGCATGGTGGCTCACGCCTGGAATCCCAGCACTTTGG
|
AAAAAAAGAGACTAGAAAAGTCTTGAACACATGTGTGTGCAAGCATGTGTGCGTGCGTGTGTGTATGCATGCACATACGTGTGTGTGATGATGATAAAAGTTGCACTTCATATAGTGCAGGGAAGAAAGAATGAAATATAGCCCATACATGGTGCTGAAACTATAGGTAACGACTCCCCATCGTTTTAAGACGATTGGCAGGTGATCTCAGAAGGCATGTCGCTGGAATGAGAGGGACACATATTGACAAAAACTAAATTTAAAAAGCTCGTGGAGAAAAACGGAAGTGCGGAGACATGGAGATGGACTCTGGAATGCAGCTCCATCCCTAGCCTGTTCTAGGGCATGGTGCTTTCCTGCACAGAGGGACTCTTTCCCTAAGGGTGTTAGGAAGGGGCTCCCCTACTCACTGTCCCGTTGATGCCACCTGGCTGCGTGCAGAAACCTCTCACAATAATGCATCAGGAACTCGTGGTCTGAGTGTTGGGCTGTCCCCAGGAGCAAGGGCAGAAGGTCTTGGCCGTCAATCACTCTGCAGGAAGGAACATGGCATGGCTCAGGGTTGGAACAGGGACTCTGGACATTTGTCCCTCCAGCATCCACCAGTCCCAGCCCCAGGTGGTGCACTCTCCTTATGTTGTATCAGTGGAGGGAAAGTCTGGGTGTGAACGCAGATGGATGGAAGGCATGTGTGTGCATTAGCACGCTTAGAAGAAGAATGCAGCAGCTGCCCACGTTAGTCACCACCAAACGTCACCTTTGGCTAAAAAGTAATTAATTGGCCAGGCACAGTGGCTCGTGCGTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAATTCGGGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCAACTAAAAACACAAAAATTAGCCAGGTGTGCTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCTAGATCGCACCACTGCACTCCAGCCTGGGCAACTGAGTGAGACTCAGTCTCAAAAAAAAAAAAAGAAGAAAAAAAAGCTGAAAGAGCCAGCACCCAAAGGCTGGAATGTAACAAAAGCCCACTAAGAGTTCTACCCAGGCCTTTCCTGGACCTTGAAGCGCGATAAAATAATGAAGGGATTCTTAACAGGACCCATTTAGGATTAAACAAGTTTTATTGGGGATCTGAAGGAACTCCCCAGACCTCCACAAACAAGTTTTATTGGGGGGTCTAAAAGAACTCCCCAAACCTCCATGATTTAGCAGGAGACAAGATAAGGGTAATCACCCCAGCACCTGGAACCATCTAGATTAAGTCAACTTACTGAGGCTCCAGAGGAAGGTCCTCAGGACTCAGACCTTAGTTCTAGATGAAAGGAAGTTGAATCACTTATGTCTTTAGATGGATGCACGCTTACATGTGGACATACAGCTTAGAAGGTATAGAAGCTCTGGAAAACTTTGTAATTTTGAGTTGGTCTAGTGATCATTTCCAGCCTTCTCCCCGTATCTGGTTACAGAAATAAAACTCCTTTCTTTCCTCGTTCATTTGCATCTCGTTATTGGGCCATGAGAATAAGCAGCCCGACCCTCGGTTTGGTCGGGGAACAATTTCAGGGACGCCTTACTGCAAAGCCAAAGTGACATGTTCATTTGCCATAAGTGTTGCTGTGTCTGTGCAAAGCTGAATTGTTTCTTTGGGTTGTTCTGTACCTGTCCTGGGGCACCTCGCCGCCCGCCAGCCGGACCACGGTGGGGAACACGTCCATCAGACTCGTGGGCTCGCCAATCACTCGGCCGGCCGGGAGCACCCCGGGCCAGCGGAAGATCCCGGGCACGCGGATCCCACCTTCCCATCCTCCCATGCCCTTCCCACCTGGGTTTGAACAGAAACAAAAGAAAGTGGTTAAAAACCAGAAATAGATGCTCAGCCTGGCTGATTTAACTTTTCTGCTTGTTTCACTTGTTTGAAGTTTCTCTCTCCCTGAGTCTCTCAATTTCTCTCTCTCTCTCTCTCTCTGTTTTAGTGACATTAAAACATTCAATCTCATGTAGTTCCCCTGTAGAGGTTTGATTTTATATTTTTTATTAACCTTGTTATTGGTTAGTGTGCATTGGATTAAGTTAGGTCCTTCACTACAAATGACTCTTGTTCTTAGAAGACACAGACACAGAGGAGAAGGCCATGTGGAGACGGAGGCAAAGACTGGAGTGATGTGGCCACAAGCCCAGGGACTCCTGGAACCCCCAGGCGCTGGGAGCAGCAGGAAGGATCCTCCCCTAGAGCCTCAAGAAGAAAGTGGATACAACTATAACGTATTGAACAGTGACCCCAAAACATGTTCATGTCATATCTCCCAGAGCCTATAAATGAGACTTTATTTGGAAATAGGGGGTTTGCAGATATAATCAAGTTAAGGACCTTGAGATAATCCTGGATTAGGGTGGCCCTAAATGCAATGACAGATGTCCTTCTAAGAGACAGAAGAGGAGACACGGACACAGAGAAGAAGGTCACGTGGAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGATGCCTGGAGCCCCCGGTAACTGGGAGAGGCAGGAAGGAGCCTCCCCTAGAGCATCCAGAAAGAAGTGGATTCAATTGCAATGGATTGCACTTTAGTCCTCCTGAAACATATATCCACACCCTGATCCCCAGATTCTGTGAATGGGACCTTATTTTAAAAAGGGGTCCTTGTAGATGCAATTAAGTATCTCAAGATCGTCGCGGAGAAGGATGGACTCTAAGTCCAATGACAGCATTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACATAGAGACGGAGGCAGAGACTGGAGTGATGTGGCCACAAGCTCAGGGACACCTGGGGCCCCCAGGAGTTGGCAGAGGCAGGGAGGAGCCTCCCCTAGAGCTTCTGGCGGGAACATTTCCCTGAGACACGTTGATCTCAAACTCCTGGTCTCCAGGGCTGGGACAGGATAAATTCCTGTTGTTTAAAGCTCCGCCAGTTTATAATACTGACATTCTTGATGGCACAGAGAACCAGATTGGGTAGAGGATACATTAACGTCAATGGCAATGAGATAAAGAAGGTTTCTGAGGAGTCAGGCCTTCAATGTGAAGTTGTTGTGGGAAGGCATTAGTGGATGTAGTTGGCATTTATATATCCCGTTTTACATATGTACTAGACTGATGGATCCATCTACTTCAAAGCAAATATACATCATAGGTATATTTGCCAATATTAGCCTAAAAAGGCTCTTTCAAGGACTGAAAAATAAAGCTCTCTAAGCAGGGAGAAGACAAAATGTGTAAGCACAACAGTGTGAAGTCATGTACACGGGGCAGCACATTTTAGCATCTTTGTGGTACACGAAAGAATGGCGTGTTTGGAAACAATGGAATACAGGTTTGAATATAATGTGGCCAGCTAGGTGTCTACCCTTCTACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCACCCAGGCGAGAGTGCAGTGGCACAATCTCAGCTGACTGCAACCTTCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTCAGCTGGGATTACAGGCGTGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGAGAGCCACTGCGCCTGGCCTTATCCTTCTTGGATGCATTGTCTGAAGGTAAAATTCAAACCTGAGTCCACACAATGGAATATATTCAGCCATGGAAAGGAATGAAACATTTCCACAACACAGATGAACCTCAGAGGCATCATGCTAAGTAAAAACAAAAAAACTCCACATATTGCATGATTTCATTTACATAAATGTCTAGAGTAGGAAAATATACAATGATACAAAATAATTTTGTGGCCAGGCATGGTGGCTCACGCCTGGAATCCCAGCACTTT
|
benign
| 329,421 |
Evaluate if the mutation on chromosome X at position 2960404 in ARSL (arylsulfatase L) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
CGGAAATGTCGCTGGAAGCTGATGGTGCCAAACTTAGCAGTACAGCGAGCATCGCTGGCAGCCAGCTCCTGAAACACAAACTGTCAGAGACTGCGTCATGCTCCTGTCCATCTCATTTGCAGAACTTGTGTATGGGGGAAGTTGGCATCACTATTTTAAGAGGTATTGATATTATCATCACATTTCAGAATAGCTTTGAGGACATCTCTTAGGCATTTGATTGTTTTTCTCTGGTTACAATTAACTGATACCGTTGATGGCTTTATTTGGCCTTGAAGTTTTTTGGGTTTTTTTTGATGCTGTAAAGTCTGTTGTTAAGTGATTAAACTCATGATTAACAGAAAGCCTTGGTGGGGTGCAGTGGCTCTCTCCTGTAATCTCAGTATTTTGTGAGGCTGCAGCGGGTGGATTGCTTTACCACAGGAGTTCAAGACCAGCCTGCGCAACATGGTGAAAACTCATCTCTACAAGAAATACACAGCTTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCCAACTCCTGGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGCGAGCTGAGATCGCACCACTGCAGGGCAACAGAGCAAGGCTGTCTCAAAACTACAACAGCAACAAGAAAAAGCAAAAACAGCCAGAAAGCCTGCCTTAGTCATGGTTTCTTGGATGGATCGGGTCCCCAGAACAGCTATTGCCCCTTCTCCATTCCCTCTTCTTCATTGTTCTTCCTTAAGCAAACTGTGTTGAACATAGGGAATGGAGGCTGGGGTTAGGGTTTGGACCACCCAGCAGAGCAAGGAAGAGACACAAGCTTGGGGCAAGGTGAGAACACAGTGAGCTGCTACTTCTGAGTCTATGAAAACCCTCTGTTCATTGTAGCACACAGATGAAAATACCCAGGACTGACTTCTTTAGCCCACTGGTATCTGATGAGAAGTGGGTTTGGAGGTGAAGGAGGTTCCAGCCTGGAGGAGAAAGCCCTGGTAGTTGCGTACCATGAGGGAACATTTCCGCAGGGGTTGGTGACATACAGCCTGCCACTATCATTGCTGCCTCTTTCATCGATGCCACCCTGGGAATGCACATGGACAGCAGGGCCATAGTGTCCCAATCCCCAGTGGGATGCAGTAAAGATGTAATCTGAGTCTCCAAGGTTTGTAGTAGGGGAAACCCTGATTTTCCCTGGAAAACCAGACACCTGGCCGATGGTAGCGGTTGATGCCCACCTGATTTGCAGAGAATGAAATACAATTCCTTCTGAGGCTGCCTGGGGCAACATCAAATCAAGGGAGCCTGGAGCACATCTATTAATCACGGGTCTCATGCTTCATTCTCCAGATGCAGGATAAATCACTATCAGTGCATTCTGAGAAAGCACCATCAAGAGATCCAGAAGCGGTCAGGCGTGGTGGCTCATGCCCATTATCTGAGCACGTTGGGAGGCCAAGGTGGGAGCATTGCCTGAGCCCAGGTGTTTAAGACCAGCTTGAGCAACATGGTGAGACCCTGTCTCTATATAAGAAAGGAAAAAAAATAAAGAAGGGAAGGAAGGAAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAGAAAGAAGGGAAGGAAGGAAGAGAAAGAAAGAAAGAAAGAAAGGAGACTACTAATGAGTGCATATAATTGTATCTTACCAAGAATGGTGCAGATGTAACATGTTGTCTCTCTCTCTACTTCCTGTAAGACATAAAGATGTCCACAATCACATTGACAGCAGAAATTGACCTGATTATAAATAAAACAGTAAGTAAGTAATTAGGGGAACTTTGATTCCCGTTCATGATATCAATAGCAAAAATATCTTAAAACAATGATCAAAATCTATAAAGGAATGCTCTTCCCGAGTGAAAAGGCTTCAAAAATGTTTAATACTATGTTAAGAATGTAAAACGTGTTTCAATACACAGCCAGATGGTCTTCAGAGAAAGAGGAAGAAAGTGGTCATAGGGTCTCCATCCCCTTTATCAGCTTTCATAGCCCATGAGTGATCACAAAGTGATGAGAGAATCCCAGTGTCCGGAAGCAGATTATTTTGTCTTCTGCTTCCCGAGCCCAGGGCAGGGGTGATTCCTAATGTCCAGAAATGCAGAGAGAGAGTCCTGATTTGGAAGGGGGAAGCGGGGAAAGATCAAAGCTTGGATGATACACAAAAGAATCTGAGTAGAGGGTATGAAGATCAGAAATACAATGAGAGGCTGCGCGTGGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCGGAAGTGGGAGGATTTGCTTGAGCCCAGGAGGTCCAGACTTGAAAACAGAACTGGGAGTGTCAGTGTGAAGGAAAAAGGCCTAGAGGACTCTGCAGGCACTGAGTGCTGCATGAAGGAGAGACGCATTCGCCTTCATTGCTAGGGGTAGGTGCTGCCGGGAGAGGGGGCGACCATTGCCCACACTTGGAAATGTTCTGTCCACAGAGGGAAACGGGCGACCCCCAAAGCACAGAGGGGCGGCCCCTCAGTCTCGCCGAGAAGTGAGGGAGAGCCCAGGGTGTAGAGCAGGAAAGGAATGAGATGGAAGATAACAATTAGAGTTGCAGGCAGCAAGAGGTCACCTTCAGGGTACTGCAGTGGTCTGACCCCATGTGGCTTGTGCATGGGACTGAGGACGAAGCTCTGATTTTTCTTTTTATCTTGCCCAAATTCCTATCTAAGGGGTCTGGAGAGTCATGCCCTACAAACCAAAAATTCTCATCAGAAGGGTTTCATTTAACTATATATTGTGACTTACTTTCCAATCTGACTCTGGCATAACATGAGACCAATAAGAAAATCAAAATATTTTACCCAAAAACATGTTTCTTTGCCATATCTTGAAATGGCCCTGCAAAGCTGTCCTTTGTGGGGAAAAATTTGCATCTGTAAAGATGTAAAGAATCTCTATTCACATAGATATTCACATCTTTTTCTACCGGACCCTTCCAATCCTGAAAAGATTGACTAAGACTCTAGCACCTTTTAAAAGTCTGAATAGGAAACAATTGTCATCTATTGTCTCTAAGGGCAGCCGCTACAAGACTTCAAAATAACCTTGGTCTCCACAATCTTTTCTCTTAACCTGAAGATTTCTTTTCTAGGGATCCCAGGGTTTTTTTTTTTTTTTTTTAATCTTTCTTTTTTATTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTAGGATCCCAGGTCTTTAGATGAACTCAACCAATTGTCAACCAGGAAATGTTTAAATCTATGTATAAGCTGGAAGCCCCCTGACTTTGAGTTGTTCCACCTTTCTGGACCAAACCAATGTGTATCTTAAATGTATTTGATTGACACCTCATGCCTCCCTAAAATGTATAAAACAAGCTGCACCCTGACCACCTTGGGCACACGTTCTTGGGTCCTCCTGAGGGCTGTGTCATGGGCCATGGTCACTCTTATTTGGCTCAGAATAAATCTCTTCAAATATTCTACAGAGTTCGCTTCTTTTCGTTGACAGGACATGGGCATGCATAGAAGATAAAGAGACAGGAGCATGCAGATGTGTTGGGTTTCTGCCTCTGAGTAACCAGGGGAGTGACCTGGCCACTTTTAGAAGGGCCGAGCGGCCAGTGAGTGAGGACACACTGGAGCCAGC
|
CGGAAATGTCGCTGGAAGCTGATGGTGCCAAACTTAGCAGTACAGCGAGCATCGCTGGCAGCCAGCTCCTGAAACACAAACTGTCAGAGACTGCGTCATGCTCCTGTCCATCTCATTTGCAGAACTTGTGTATGGGGGAAGTTGGCATCACTATTTTAAGAGGTATTGATATTATCATCACATTTCAGAATAGCTTTGAGGACATCTCTTAGGCATTTGATTGTTTTTCTCTGGTTACAATTAACTGATACCGTTGATGGCTTTATTTGGCCTTGAAGTTTTTTGGGTTTTTTTTGATGCTGTAAAGTCTGTTGTTAAGTGATTAAACTCATGATTAACAGAAAGCCTTGGTGGGGTGCAGTGGCTCTCTCCTGTAATCTCAGTATTTTGTGAGGCTGCAGCGGGTGGATTGCTTTACCACAGGAGTTCAAGACCAGCCTGCGCAACATGGTGAAAACTCATCTCTACAAGAAATACACAGCTTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCCAACTCCTGGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGCGAGCTGAGATCGCACCACTGCAGGGCAACAGAGCAAGGCTGTCTCAAAACTACAACAGCAACAAGAAAAAGCAAAAACAGCCAGAAAGCCTGCCTTAGTCATGGTTTCTTGGATGGATCGGGTCCCCAGAACAGCTATTGCCCCTTCTCCATTCCCTCTTCTTCATTGTTCTTCCTTAAGCAAACTGTGTTGAACATAGGGAATGGAGGCTGGGGTTAGGGTTTGGACCACCCAGCAGAGCAAGGAAGAGACACAAGCTTGGGGCAAGGTGAGAACACAGTGAGCTGCTACTTCTGAGTCTATGAAAACCCTCTGTTCATTGTAGCACACAGATGAAAATACCCAGGACTGACTTCTTTAGCCCACTGGTATCTGATGAGAAGTGGGTTTGGAGGTGAAGGAGGTTCCAGCCTGGAGGAGAAAGCCCTGGTAGTTGCGTACCATGAGGGAACATTTCCGCAGGGGTTGGTGACATACAGCCTGCCACTATCATTGCTGCCTCTTTCATCGATGCCACCCTGGGAATGCACATGGACAGCAGGGCCATAGTGTCCCAATCCCCAGTGGGATGCAGTAAAGATGTAATCTGAGTCTCCAAGGTTTGTAGTAGGGGAAACCCTGATTTTCCCTGGAAAACCAGACACCTGGCCGATGGTAGCGGTTGATGCCCACCTGATTTGCAGAGAATGAAATACAATTCCTTCTGAGGCTGCCTGGGGCAACATCAAATCAAGGGAGCCTGGAGCACATCTATTAATCACGGGTCTCATGCTTCATTCTCCAGATGCAGGATAAATCACTATCAGTGCATTCTGAGAAAGCACCATCAAGAGATCCAGAAGCGGTCAGGCGTGGTGGCTCATGCCCATTATCTGAGCACGTTGGGAGGCCAAGGTGGGAGCATTGCCTGAGCCCAGGTGTTTAAGACCAGCTTGAGCAACATGGTGAGACCCTGTCTCTATATAAGAAAGGAAAAAAAATAAAGAAGGGAAGGAAGGAAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAGAAAGAAGGGAAGGAAGGAAGAGAAAGAAAGAAAGAAAGAAAGGAGACTACTAATGAGTGCATATAATTGTATCTTACCAAGAATGGTGCAGATGTAACATGTTGTCTCTCTACTTCCTGTAAGACATAAAGATGTCCACAATCACATTGACAGCAGAAATTGACCTGATTATAAATAAAACAGTAAGTAAGTAATTAGGGGAACTTTGATTCCCGTTCATGATATCAATAGCAAAAATATCTTAAAACAATGATCAAAATCTATAAAGGAATGCTCTTCCCGAGTGAAAAGGCTTCAAAAATGTTTAATACTATGTTAAGAATGTAAAACGTGTTTCAATACACAGCCAGATGGTCTTCAGAGAAAGAGGAAGAAAGTGGTCATAGGGTCTCCATCCCCTTTATCAGCTTTCATAGCCCATGAGTGATCACAAAGTGATGAGAGAATCCCAGTGTCCGGAAGCAGATTATTTTGTCTTCTGCTTCCCGAGCCCAGGGCAGGGGTGATTCCTAATGTCCAGAAATGCAGAGAGAGAGTCCTGATTTGGAAGGGGGAAGCGGGGAAAGATCAAAGCTTGGATGATACACAAAAGAATCTGAGTAGAGGGTATGAAGATCAGAAATACAATGAGAGGCTGCGCGTGGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCGGAAGTGGGAGGATTTGCTTGAGCCCAGGAGGTCCAGACTTGAAAACAGAACTGGGAGTGTCAGTGTGAAGGAAAAAGGCCTAGAGGACTCTGCAGGCACTGAGTGCTGCATGAAGGAGAGACGCATTCGCCTTCATTGCTAGGGGTAGGTGCTGCCGGGAGAGGGGGCGACCATTGCCCACACTTGGAAATGTTCTGTCCACAGAGGGAAACGGGCGACCCCCAAAGCACAGAGGGGCGGCCCCTCAGTCTCGCCGAGAAGTGAGGGAGAGCCCAGGGTGTAGAGCAGGAAAGGAATGAGATGGAAGATAACAATTAGAGTTGCAGGCAGCAAGAGGTCACCTTCAGGGTACTGCAGTGGTCTGACCCCATGTGGCTTGTGCATGGGACTGAGGACGAAGCTCTGATTTTTCTTTTTATCTTGCCCAAATTCCTATCTAAGGGGTCTGGAGAGTCATGCCCTACAAACCAAAAATTCTCATCAGAAGGGTTTCATTTAACTATATATTGTGACTTACTTTCCAATCTGACTCTGGCATAACATGAGACCAATAAGAAAATCAAAATATTTTACCCAAAAACATGTTTCTTTGCCATATCTTGAAATGGCCCTGCAAAGCTGTCCTTTGTGGGGAAAAATTTGCATCTGTAAAGATGTAAAGAATCTCTATTCACATAGATATTCACATCTTTTTCTACCGGACCCTTCCAATCCTGAAAAGATTGACTAAGACTCTAGCACCTTTTAAAAGTCTGAATAGGAAACAATTGTCATCTATTGTCTCTAAGGGCAGCCGCTACAAGACTTCAAAATAACCTTGGTCTCCACAATCTTTTCTCTTAACCTGAAGATTTCTTTTCTAGGGATCCCAGGGTTTTTTTTTTTTTTTTTTAATCTTTCTTTTTTATTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTAGGATCCCAGGTCTTTAGATGAACTCAACCAATTGTCAACCAGGAAATGTTTAAATCTATGTATAAGCTGGAAGCCCCCTGACTTTGAGTTGTTCCACCTTTCTGGACCAAACCAATGTGTATCTTAAATGTATTTGATTGACACCTCATGCCTCCCTAAAATGTATAAAACAAGCTGCACCCTGACCACCTTGGGCACACGTTCTTGGGTCCTCCTGAGGGCTGTGTCATGGGCCATGGTCACTCTTATTTGGCTCAGAATAAATCTCTTCAAATATTCTACAGAGTTCGCTTCTTTTCGTTGACAGGACATGGGCATGCATAGAAGATAAAGAGACAGGAGCATGCAGATGTGTTGGGTTTCTGCCTCTGAGTAACCAGGGGAGTGACCTGGCCACTTTTAGAAGGGCCGAGCGGCCAGTGAGTGAGGACACACTGGAGCCAGCNNNN
|
benign
| 329,459 |
Regarding the variant found on chromosome X at position 8553929 in gene ANOS1 (anosmin 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
GAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACCCCAGACTGGGCGACAGATCAAGACTGTGTCTCAACAAACAAACACCAAATGACTTGTATATACTATATTAAAAGCACTCATGCAGGACAGAGTAGCTAAAGAGTTGAAAGAGTCCTTCAAAAAAGAGAAATCCAATTGTCAGTAAAATTACAAAAAGGTGCTCAACTTCTTGGACATCAGAAAAATGCGAATTCAAATAACAATGAGGTATCACTATGAACATACCAGAAAGGGTAAACTTACAAAGATGGAAAATACCACATGACAGAGAGAATGTGGAGCACCTGGAACCATAATCATGCCCTACTGGTGAGAATGTAAATTGGTACAACCATTTTGGAAAACTATTAATGTTTTCTAAAGCTTGACATACTCTACGGCCTAAGAATCCCACCTCTATGGAAGAATATGCGTCAAACAACATGTGTTCGTGGGGCATTCACACTGGTACTATTCTTAATAGCTCCACATCTGAATAAGTAAATCTCCATCCACAGCTGAAAGGATACACAGATTGATGTATACTAAGGACATCCAGGCAGCAATATAAATGAATGAATTGTTTCATGCAACAGAATGCATTGGTTTCTCATAAAATGCTCATGGCAAGAAGCCAAATACAAATAGAAATTGAGTGATTCCATTCTGATAAATTTCAAATACAGGCAAAACAAATATTGAGTTTTAAAAGTCAGGATGGTGGTGGTTACTCTTGTATGCTTGAGATATTTACTTTTTCAATAGTAGATGTTTACATTTTCATTTTATTACATTATGTTTAAAATTTTAATATTAATAAAATGTTATTTTTTAAATATGAATATGTTGATATTTTAATTAATCAATATAATAGATCAAATACTTTTCTTATTTAATATTTATAAAATTATTAACTGTAATATAGACATAATATAATCTTAATGCAATAAATGTTGAATAAACTTTAATTAACATTATAGAAATAAAATATGTTAATATTAATAATAATATTATTTTACTTGCAGAATGGATTTCAGCAGCTTGAAAGAAAATCCTGGAATAGGAACCACTCCAACACCAATATTGCTTATGGCACATGGCCCATCAATACCTTGAGTAAAAGTGAATTTCAGAGGAGTGAGGAGAATTTTAAAAACCTAACTCTTGAAACAATCTATTCTGCTTATGTTTTTAAGAGGCATAAGAGTGATAAAGATAAAAGACTGTATGTTGAATAAATTCTAAAAGTACCACCTTGATAACAGAAAAACAAATATTCTAAGACTAAAAAAAAAAATAAACAAAAAGAATTTATGCTAAAGATAAATGTTCAAACAAATGAAATGAATCTATCCTAAGGATAAATGTATTGCAGCCTTAATTAGAAAACAGAAATTCTAAAGAACTGAAATGTTTCATTGTACTGGAATAATGACATGTATTATGATATTAAGATATACCCATACAAAGTAGCATTTATAGAATGTTATGAAAAATGCATGACAATATAGCAGCTCAAACAATGTTACACAGAAATATGTGTGTATGTTTTAAAAACACACTCACACACACACACCCTAACTGAGTGAAAGACAGATGCATAGAAAATTTCTGAAAGGAAACCCACCAAAGTGCTGTTTCAGGAAATGATATTGAGATAATAGGTGACTTTCCCCCCCTACTTTCTAAATTATTTGTATTATGGATCTTTAAAAAATAATAATTAATAATTTATAACAAAAATTACAGCTCAAAATAATGAATATTTTGAGTGTTTTGGATATAACATCAGCCAATCAGCCCTCTGGGAAAGAAATGAAGACAAGCTAATATCCCTGAAAGGAAAATATTTAAGCAATTGACTGTTGTAGATTTCAAGATGTGAGATAACCGTCAACTCATTCAGACTTGTGTTCAACAACCGTTTGCCTTAGTATTGATACTGTGGCTTGACATTTACTTCTTCAAAACTATCTCTATATTACTGTGCTGTTTAAAGCAAGTAAGAAATAAGTAAGTAATGTTTATGTACCTTCTGTCTTCTTCCAGTAGACTTTAACTTGCAGTTGGCCATCCTGATAGAAGGGAGCTCCGACTTCCAGCGGGCGAGTGGGTCGTCGTCTTTGAAAAGGGAGTTGTGTTTGAATTCCACCTTTTCTAGTTTTCACAAGCTGTTCTTCTACAACAAAGTACAACATTCTAAGTTACTTGTTAAAAGTAATTATAGATTCCTGGGCAAGATGGCCAAATAGGAACAGCTCCATTATGCAGCTTCCAGCGAGAACAACACAGAAGGCGGGTGATTTCTCTATTTCCAACGGAGGTACCGGCTCATCTCATTAGGACTGGTTAGACAGTGGGTGCAGCCCATGGAGGGCGAGCAGAAGCAGGGTGGGGCGTTGCCTCACCCAGGAAGCACAAGTGGTTGGAGAACTCCCTCCCCTAGCCAAGGGAAGCCGTGAGTGAGGGACAGTGCTATCCAGCACAGATAACTACGCTTTTCCCACTGTCTTCGCAATTGGCAGACCAGGAGATTCCCTCGGGTGCCTACACCGCCAGGCCCCTGAGTTTCAAGTGCAAAACTGGGAGGCCATTTGGGCAGACACAGAGCTGGCTACAGGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGTTGTTGTTGTTTTAGATGGAGTCTCGCTCTGTCGCCCAACAAAGATCAAAAGAGACAAAGAAGGGGAATATATAATGGTAAAGGGTTCAATGCAACAAGAAGAGCTAAAATAAATATATATGCCACCAATACAGGAGCATCCCGATTCATAAAGCGTGTTCTTAGAGACCTACAAAGACACTTAGACTCCCACACAATAATAGTGGGAGGTTTTAACACTCCATTGTCAATATTAGACAGATCAATGAGACAGAAAATTAACAAGAACATTCAGGACTTGAACTCAGCTCTGGACCAAGTGCACCTAATAGACATCTACAGAACTCTCCACCACAAATCAACAGAATATACATTCTTCTCAGCACCATATAGCACTTATTCTAAAATTGACCATGTAATTGGAAGTAAAATATTCCTCAGCAAATGCAAAAGAATGGAAATCATAACAAACAGTCTCTCAGACCACAGTGCAATCAAATTAGAACTCAGGATTAAGAAAGCCACTCAAAACCATACAACTACATGGAAACTGAACAATATGCTCCTGAATGACTACTGGGTAAATAATGAAATTCAGGCAGAAATAAATAAGTTTTTTGAAACCAATGAGAACAAAGACACAATGTACCAGAATCACTGGGACACAGCTAAAGCAGCGTTTAGAGGGAAATTTATAGCACGAAATGCCCACAGGAGAAAGCGGGGAAGATCTAAAATCGACACCCTAACATCACAATTAAAAGAACTGGAGAAGCAAGAGCAAACAAATTCAAAAGCCAGCAGAAGACAAGAAATAACTAAGATCAGAGGAGAACTGAAGGAGATAGAGACACAAAAAACCCTTCCAAAAATCAATGAATCCAGAAGCTGGTTTTTTGAAAACATTAACAAAACAGATAGACTACTAGCCAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGACACAATATTAAATGATAAAGGGGATATCACTAATGATCCCACAGAAGTACAAACTACCATCAGAGAATACTACAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAACTCCTGGACACATACACCCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAATAGCCTACCAACCAAAAAAAGCCCAGGACCAGACAGATTCACAGCTGAATTGTACCAGAGATACAAACAGGAGCTGGTATCATTCCTTCTAAAACTATTCCAAACAATAGAAAAAGAGGGACTCCTCCCTAACTCATTTTATGAGGTCAGCATCATGCTGATACCAAAACCTGGCAGAGATACAACAAAAAAAGAAAATTTCAGGCCGATATCCCTGATGAACATTGATGTGAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC
|
GAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACCCCAGACTGGGCGACAGATCAAGACTGTGTCTCAACAAACAAACACCAAATGACTTGTATATACTATATTAAAAGCACTCATGCAGGACAGAGTAGCTAAAGAGTTGAAAGAGTCCTTCAAAAAAGAGAAATCCAATTGTCAGTAAAATTACAAAAAGGTGCTCAACTTCTTGGACATCAGAAAAATGCGAATTCAAATAACAATGAGGTATCACTATGAACATACCAGAAAGGGTAAACTTACAAAGATGGAAAATACCACATGACAGAGAGAATGTGGAGCACCTGGAACCATAATCATGCCCTACTGGTGAGAATGTAAATTGGTACAACCATTTTGGAAAACTATTAATGTTTTCTAAAGCTTGACATACTCTACGGCCTAAGAATCCCACCTCTATGGAAGAATATGCGTCAAACAACATGTGTTCGTGGGGCATTCACACTGGTACTATTCTTAATAGCTCCACATCTGAATAAGTAAATCTCCATCCACAGCTGAAAGGATACACAGATTGATGTATACTAAGGACATCCAGGCAGCAATATAAATGAATGAATTGTTTCATGCAACAGAATGCATTGGTTTCTCATAAAATGCTCATGGCAAGAAGCCAAATACAAATAGAAATTGAGTGATTCCATTCTGATAAATTTCAAATACAGGCAAAACAAATATTGAGTTTTAAAAGTCAGGATGGTGGTGGTTACTCTTGTATGCTTGAGATATTTACTTTTTCAATAGTAGATGTTTACATTTTCATTTTATTACATTATGTTTAAAATTTTAATATTAATAAAATGTTATTTTTTAAATATGAATATGTTGATATTTTAATTAATCAATATAATAGATCAAATACTTTTCTTATTTAATATTTATAAAATTATTAACTGTAATATAGACATAATATAATCTTAATGCAATAAATGTTGAATAAACTTTAATTAACATTATAGAAATAAAATATGTTAATATTAATAATAATATTATTTTACTTGCAGAATGGATTTCAGCAGCTTGAAAGAAAATCCTGGAATAGGAACCACTCCAACACCAATATTGCTTATGGCACATGGCCCATCAATACCTTGAGTAAAAGTGAATTTCAGAGGAGTGAGGAGAATTTTAAAAACCTAACTCTTGAAACAATCTATTCTGCTTATGTTTTTAAGAGGCATAAGAGTGATAAAGATAAAAGACTGTATGTTGAATAAATTCTAAAAGTACCACCTTGATAACAGAAAAACAAATATTCTAAGACTAAAAAAAAAAATAAACAAAAAGAATTTATGCTAAAGATAAATGTTCAAACAAATGAAATGAATCTATCCTAAGGATAAATGTATTGCAGCCTTAATTAGAAAACAGAAATTCTAAAGAACTGAAATGTTTCATTGTACTGGAATAATGACATGTATTATGATATTAAGATATACCCATACAAAGTAGCATTTATAGAATGTTATGAAAAATGCATGACAATATAGCAGCTCAAACAATGTTACACAGAAATATGTGTGTATGTTTTAAAAACACACTCACACACACACACCCTAACTGAGTGAAAGACAGATGCATAGAAAATTTCTGAAAGGAAACCCACCAAAGTGCTGTTTCAGGAAATGATATTGAGATAATAGGTGACTTTCCCCCCCTACTTTCTAAATTATTTGTATTATGGATCTTTAAAAAATAATAATTAATAATTTATAACAAAAATTACAGCTCAAAATAATGAATATTTTGAGTGTTTTGGATATAACATCAGCCAATCAGCCCTCTGGGAAAGAAATGAAGACAAGCTAATATCCCTGAAAGGAAAATATTTAAGCAATTGACTGTTGTAGATTTCAAGATGTGAGATAACCGTCAACTCATTCAGACTTGTGTTCAACAACCGTTTGCCTTAGTATTGATACTGTGGCTTGACATTTACTTCTTCAAAACTATCTCTATATTACTGTGCTGTTTAAAGCAAGTAAGAAATAAGTAATGTTTATGTACCTTCTGTCTTCTTCCAGTAGACTTTAACTTGCAGTTGGCCATCCTGATAGAAGGGAGCTCCGACTTCCAGCGGGCGAGTGGGTCGTCGTCTTTGAAAAGGGAGTTGTGTTTGAATTCCACCTTTTCTAGTTTTCACAAGCTGTTCTTCTACAACAAAGTACAACATTCTAAGTTACTTGTTAAAAGTAATTATAGATTCCTGGGCAAGATGGCCAAATAGGAACAGCTCCATTATGCAGCTTCCAGCGAGAACAACACAGAAGGCGGGTGATTTCTCTATTTCCAACGGAGGTACCGGCTCATCTCATTAGGACTGGTTAGACAGTGGGTGCAGCCCATGGAGGGCGAGCAGAAGCAGGGTGGGGCGTTGCCTCACCCAGGAAGCACAAGTGGTTGGAGAACTCCCTCCCCTAGCCAAGGGAAGCCGTGAGTGAGGGACAGTGCTATCCAGCACAGATAACTACGCTTTTCCCACTGTCTTCGCAATTGGCAGACCAGGAGATTCCCTCGGGTGCCTACACCGCCAGGCCCCTGAGTTTCAAGTGCAAAACTGGGAGGCCATTTGGGCAGACACAGAGCTGGCTACAGGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGTTGTTGTTGTTTTAGATGGAGTCTCGCTCTGTCGCCCAACAAAGATCAAAAGAGACAAAGAAGGGGAATATATAATGGTAAAGGGTTCAATGCAACAAGAAGAGCTAAAATAAATATATATGCCACCAATACAGGAGCATCCCGATTCATAAAGCGTGTTCTTAGAGACCTACAAAGACACTTAGACTCCCACACAATAATAGTGGGAGGTTTTAACACTCCATTGTCAATATTAGACAGATCAATGAGACAGAAAATTAACAAGAACATTCAGGACTTGAACTCAGCTCTGGACCAAGTGCACCTAATAGACATCTACAGAACTCTCCACCACAAATCAACAGAATATACATTCTTCTCAGCACCATATAGCACTTATTCTAAAATTGACCATGTAATTGGAAGTAAAATATTCCTCAGCAAATGCAAAAGAATGGAAATCATAACAAACAGTCTCTCAGACCACAGTGCAATCAAATTAGAACTCAGGATTAAGAAAGCCACTCAAAACCATACAACTACATGGAAACTGAACAATATGCTCCTGAATGACTACTGGGTAAATAATGAAATTCAGGCAGAAATAAATAAGTTTTTTGAAACCAATGAGAACAAAGACACAATGTACCAGAATCACTGGGACACAGCTAAAGCAGCGTTTAGAGGGAAATTTATAGCACGAAATGCCCACAGGAGAAAGCGGGGAAGATCTAAAATCGACACCCTAACATCACAATTAAAAGAACTGGAGAAGCAAGAGCAAACAAATTCAAAAGCCAGCAGAAGACAAGAAATAACTAAGATCAGAGGAGAACTGAAGGAGATAGAGACACAAAAAACCCTTCCAAAAATCAATGAATCCAGAAGCTGGTTTTTTGAAAACATTAACAAAACAGATAGACTACTAGCCAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGACACAATATTAAATGATAAAGGGGATATCACTAATGATCCCACAGAAGTACAAACTACCATCAGAGAATACTACAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAACTCCTGGACACATACACCCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAATAGCCTACCAACCAAAAAAAGCCCAGGACCAGACAGATTCACAGCTGAATTGTACCAGAGATACAAACAGGAGCTGGTATCATTCCTTCTAAAACTATTCCAAACAATAGAAAAAGAGGGACTCCTCCCTAACTCATTTTATGAGGTCAGCATCATGCTGATACCAAAACCTGGCAGAGATACAACAAAAAAAGAAAATTTCAGGCCGATATCCCTGATGAACATTGATGTGAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACNNNN
|
benign
| 329,571 |
Variant on chromosome X, at position 9743600, affecting GPR143 (G protein-coupled receptor 143): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Nystagmus_6,_congenital,_X-linked']
|
AAGTACCAACTCCCGGTATAGACATGGCCACTTCTGCAGTAAGAAACTAAGAGGGCCAGGTGCAATGGCTCCCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTCTGAGACCAGCCTGGGCAACACAGTGAAATTTGTCTCTACTAAAAATAAAAAATAAAAAAATTAACCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTAATTGGGAGGCTGGGGTGGGAGGATCGCTTGAGCCCAGGAAATCGAGCCTGCAGTGAGCTATGAATGTGCCACTGCACTCCAGCCTGGGGGACAAAGTGAGACCCTGTCTCAGAAAGAAAAAGAAAAGAAATGAGACTAAGAGGAACCAGCACACTAAGAATTTAATTTAAAAAACATAATTCGTTTTCTCAGTCTAAAGCACAGATCAGCAAATCCTTCCAATGGTACCACTCAACACCACATCAGGGTGTAAGGTTCTAGCACTGTATCAAATAACCCAGAATTCATTTTTTGTTTGAAGAGCAACGTACAGTTTTCATGGAGATCAAAACAATTTTTTCTTGCCATTTTATAATAGTATTTTTCAATGTTATTTTAGGTGGCTCAGTGAAATATGAAATGTTGAACTGAGTGTATTTTTAGTAGGAGATGATTTATGTATCTCCAAGAAAGGTGTCCAAACAAAGCTCATATCAGGTGAATTATTATTACTATTATGTTTTAGAGACAAGGTCTCGCTCTGTCACACAGGCTGGAGAGCAGTGGCATGATCATAGCTCACTGTAGCCTCGAACTCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCATGTGCCACCATTCCTGGCTAATTGTTGTTGTTGTATCGCCCAGGATGGTTTTGAACTCCTGACCTCAAGGAATACTCCTGCCTCCAACTACCAAAGTGTGAGCTACCACGACCCGCGCAGGTGAATTTTTAACATCATAAGTACTTGCCCTGCCTGCAAGGTACTGATTCACCACAGTGCAGCATGTTCTGATTCCAGTTTTATTTTTTGCATTGGTTACAGGTCTGTTTTCAAAGTATCCACCTGAAAGGTTTGGACAGGATACCAGTGGTGGGGAAAAATGAGGAGAGACAAACTGCTCAGGCCGTTCTCCAACCTTCTTGACCAAAGACGTGCCCTTGCCCCTCTGTCAGGCACAGGAATTCTGGTGTCAGGAGTGAGGCAAATGGGTGAGTTTATAAAGCATGACCAGCTGAGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCTAGACGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCAACTCTACTAAAAATACAAAAATGAGCTGAGTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGAGAGGCGGAGGTTGCAGCGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGTAAGACTACTTGGGAGGCTGAGGTGAGAAGATCACTTGAGCCCTAAAGATCAAGGTTGCAGTGAGCTGTGATTGAGCCACTGCACTCCAGCACTCCAGCCTGGGTGACAGAGAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGCATACGCAACCCCTTTGTTTTGGTTAACCCCAGCAATGCACATGGTTGGGACATTTCAAAACTAAACTTGGGTGTTCGTTTTCTAAGGGCTTTATATATAATTTGAGTAGATTTGAATGTTTTTCCAGAAATTCATGAATTTTGGACTTGCTCCCCTGTCCTCTGTGCCTTTCCTCAAAGGGCACCTAGCACAGTCTCAAAGATTTCCTTCCCAAAGGCTCTTCCCTTTGGAACTTCTGGTCACGCATGCAACATGGCAAGTTGTTTCCATAGCCCTTCCCACTGGCAATAAAAATACACATATATAGAAGAAAGGTTACCAAATAATTAAAACCAGCATGATTTTGAAAAATCGGATCTTGATCACGGCTCCCATCCTCCTCTCGTTCTCCGTGTAAATGCCTTGTCTTCCTTTAAGTAAAGAGGCCACTGTGAAGAACAGAAGGAACTATGTATGGTGTTCATTATTCATGTTTACGGAGTGACAGAGAAGGCAATGGAAGCAGGTGTGAGCCCACAAGCAAGGCCAGAGGGGCAGGAAGCAAAGCAAGTCACTGACATTCATTCCTCACAACTTCCAGGTTGGAGTCCTCATAGACCCTAAGGAATATACATATTTTTAAACTTCTGCTTTGAAATAATTTTAGATTTACATAAAAGTTGCAAAGATAAAAGATAGCACAGAGAGTCCCTGTATATCCCTACCCTTTACCCAGATTCCCCTCAATGTAAGCATCTTATGCAACCATGGGGATGTTCTTCACAACTATGAAATTAACACAGGTACATTACTATGTTAACTCCCAATTTTGGCTGGGTGCAGTGGCTCACACCTGTAATCTCAGCACTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTTTACTAAAAATACAAAAATTATCCAGGCATGGTGGTGCACGTCTGTAATCCCAGCTATCCGGGAGGCTGGTGCACGAGAATCCCTTGGACTCAGGAGGCAGAGATTGCAGTGAGGCAAGATCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAATAACTAAATAAATAAATTCCCAATTTTATTTGAATGCTCCTAGTTCAGAAACTATATTTTTAAAAGCTCATTTTCTCTGTTATAAAAATAGAGGTGCAGTGGCTCACAACTGTAATCTTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGCTGTGGTGGCAGATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCCGAGATCACGTCAATTCACTCCAGCCTGGGCAAAAGAGCGAAACCCCATCTCAAAAAAATAAAAATAGTGCACGCTTGTTAAAATATTGAAAAAAATTTAATTTCTTCTTATAGACAAGTTAGAAAATATTTAAAAGTTTAGAGAAGTATGAATGACCCATGGTCCGTCCACCCAGAGGTAACCACTGTTAACATCTTAGTGTATTTCTTTTCAGTCTTTTTTCTATAAGTCATTTCCATCAGCTCAAATCACTATTTTTGATGAGATTTTGTCTTAAAATGCTATATTTAACACACTATATTTAAATGTAGATATGCGCCAGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGTGGGTGGATCACCCGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAGTAGCCGGGCGTGGTGGCGCTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACATGGGCAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGGTGACAGAGCGAGACTCCGTCTCAATGAAAACAAAAAGTGTAGATATGAAGAGAATGGTCCGAAGAATCACAATAATTTCCTATTACCAATGATAGAGTACTCTCAACAATGTTTTTAAAAAGTTCAACAATCAACAGGTGATCTTCAAAGGACCTCTCAGTTAAGGCAAATTTCCTTATTCCCATTCTCCCCTTGAGAGATCTCTGGCAGCCTGAGGAGGTGGGAGGCTCACTCCAGGACACACTTCCTTGAGGGGAAAGTAGGGGCTGGACTGCAGGTCTCCAGCCCCAGCCTAGAAGTCTTTCCCAGACATGTTGCCAACGACTTCATTACTCTTATCCTTTTCTAACCATTGACCTTGACTCATTTCCTGTGCTCCACTTCCTGTTTCCTGCCCATCTGAGAAAAAACATC
|
AAGTACCAACTCCCGGTATAGACATGGCCACTTCTGCAGTAAGAAACTAAGAGGGCCAGGTGCAATGGCTCCCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTCTGAGACCAGCCTGGGCAACACAGTGAAATTTGTCTCTACTAAAAATAAAAAATAAAAAAATTAACCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTAATTGGGAGGCTGGGGTGGGAGGATCGCTTGAGCCCAGGAAATCGAGCCTGCAGTGAGCTATGAATGTGCCACTGCACTCCAGCCTGGGGGACAAAGTGAGACCCTGTCTCAGAAAGAAAAAGAAAAGAAATGAGACTAAGAGGAACCAGCACACTAAGAATTTAATTTAAAAAACATAATTCGTTTTCTCAGTCTAAAGCACAGATCAGCAAATCCTTCCAATGGTACCACTCAACACCACATCAGGGTGTAAGGTTCTAGCACTGTATCAAATAACCCAGAATTCATTTTTTGTTTGAAGAGCAACGTACAGTTTTCATGGAGATCAAAACAATTTTTTCTTGCCATTTTATAATAGTATTTTTCAATGTTATTTTAGGTGGCTCAGTGAAATATGAAATGTTGAACTGAGTGTATTTTTAGTAGGAGATGATTTATGTATCTCCAAGAAAGGTGTCCAAACAAAGCTCATATCAGGTGAATTATTATTACTATTATGTTTTAGAGACAAGGTCTCGCTCTGTCACACAGGCTGGAGAGCAGTGGCATGATCATAGCTCACTGTAGCCTCGAACTCCTAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCATGTGCCACCATTCCTGGCTAATTGTTGTTGTTGTATCGCCCAGGATGGTTTTGAACTCCTGACCTCAAGGAATACTCCTGCCTCCAACTACCAAAGTGTGAGCTACCACGACCCGCGCAGGTGAATTTTTAACATCATAAGTACTTGCCCTGCCTGCAAGGTACTGATTCACCACAGTGCAGCATGTTCTGATTCCAGTTTTATTTTTTGCATTGGTTACAGGTCTGTTTTCAAAGTATCCACCTGAAAGGTTTGGACAGGATACCAGTGGTGGGGAAAAATGAGGAGAGACAAACTGCTCAGGCCGTTCTCCAACCTTCTTGACCAAAGACGTGCCCTTGCCCCTCTGTCAGGCACAGGAATTCTGGTGTCAGGAGTGAGGCAAATGGGTGAGTTTATAAAGCATGACCAGCTGAGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCTAGACGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCAACTCTACTAAAAATACAAAAATGAGCTGAGTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGAGAGGCGGAGGTTGCAGCGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGTAAGACTACTTGGGAGGCTGAGGTGAGAAGATCACTTGAGCCCTAAAGATCAAGGTTGCAGTGAGCTGTGATTGAGCCACTGCACTCCAGCACTCCAGCCTGGGTGACAGAGAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGCATACGCAACCCCTTTGTTTTGGTTAACCCCAGCAATGCACATGGTTGGGACATTTCAAAACTAAACTTGGGTGTTCGTTTTCTAAGGGCTTTATATATAATTTGAGTAGATTTGAATGTTTTTCCAGAAATTCATGAATTTTGGACTTGCTCCCCTGTCCTCTGTGCCTTTCCTCAAAGGGCACCTAGCACAGTCTCAAAGATTTCCTTCCCAAAGGCTCTTCCCTTTGGAACTTCTGGTCACGCATGCAACATGGCAAGTTGTTTCCATAGCCCTTCCCACTGGCAATAAAAATACACATATATAGAAGAAAGGTTACCAAATAATTAAAACCAGCATGATTTTGAAAAATCGGTCTTGATCACGGCTCCCATCCTCCTCTCGTTCTCCGTGTAAATGCCTTGTCTTCCTTTAAGTAAAGAGGCCACTGTGAAGAACAGAAGGAACTATGTATGGTGTTCATTATTCATGTTTACGGAGTGACAGAGAAGGCAATGGAAGCAGGTGTGAGCCCACAAGCAAGGCCAGAGGGGCAGGAAGCAAAGCAAGTCACTGACATTCATTCCTCACAACTTCCAGGTTGGAGTCCTCATAGACCCTAAGGAATATACATATTTTTAAACTTCTGCTTTGAAATAATTTTAGATTTACATAAAAGTTGCAAAGATAAAAGATAGCACAGAGAGTCCCTGTATATCCCTACCCTTTACCCAGATTCCCCTCAATGTAAGCATCTTATGCAACCATGGGGATGTTCTTCACAACTATGAAATTAACACAGGTACATTACTATGTTAACTCCCAATTTTGGCTGGGTGCAGTGGCTCACACCTGTAATCTCAGCACTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTTTACTAAAAATACAAAAATTATCCAGGCATGGTGGTGCACGTCTGTAATCCCAGCTATCCGGGAGGCTGGTGCACGAGAATCCCTTGGACTCAGGAGGCAGAGATTGCAGTGAGGCAAGATCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAATAACTAAATAAATAAATTCCCAATTTTATTTGAATGCTCCTAGTTCAGAAACTATATTTTTAAAAGCTCATTTTCTCTGTTATAAAAATAGAGGTGCAGTGGCTCACAACTGTAATCTTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCTGGCTGTGGTGGCAGATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCCGAGATCACGTCAATTCACTCCAGCCTGGGCAAAAGAGCGAAACCCCATCTCAAAAAAATAAAAATAGTGCACGCTTGTTAAAATATTGAAAAAAATTTAATTTCTTCTTATAGACAAGTTAGAAAATATTTAAAAGTTTAGAGAAGTATGAATGACCCATGGTCCGTCCACCCAGAGGTAACCACTGTTAACATCTTAGTGTATTTCTTTTCAGTCTTTTTTCTATAAGTCATTTCCATCAGCTCAAATCACTATTTTTGATGAGATTTTGTCTTAAAATGCTATATTTAACACACTATATTTAAATGTAGATATGCGCCAGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGTGGGTGGATCACCCGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAGTAGCCGGGCGTGGTGGCGCTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACATGGGCAGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGGTGACAGAGCGAGACTCCGTCTCAATGAAAACAAAAAGTGTAGATATGAAGAGAATGGTCCGAAGAATCACAATAATTTCCTATTACCAATGATAGAGTACTCTCAACAATGTTTTTAAAAAGTTCAACAATCAACAGGTGATCTTCAAAGGACCTCTCAGTTAAGGCAAATTTCCTTATTCCCATTCTCCCCTTGAGAGATCTCTGGCAGCCTGAGGAGGTGGGAGGCTCACTCCAGGACACACTTCCTTGAGGGGAAAGTAGGGGCTGGACTGCAGGTCTCCAGCCCCAGCCTAGAAGTCTTTCCCAGACATGTTGCCAACGACTTCATTACTCTTATCCTTTTCTAACCATTGACCTTGACTCATTTCCTGTGCTCCACTTCCTGTTTCCTGCCCATCTGAGAAAAAACATCN
|
pathogenic
| 329,618 |
Variant chromosome X, position 9748660, gene GPR143 (G protein-coupled receptor 143): benign or pathogenic? Disease(s)?
|
pathogenic
|
CCAGCTGCATATTTCAGAGGAAATGTGTTCTCATGGTTATGGATAACAATAGTTTCAGAGGTTCTTGTCAGAGAAAAGGACAAAGATTTCTACTGAGGGGTCATAGGAGTCACTGGTCACCACAGAATGTGCTGGAGGGCCTCACAAACATATGTTACCAAGGTAACAACTCTCAGCTGCGAAATGCTTAATGTAGGAGAGAAGCAAAATGGCACAGAGGAAGAGGAAACTGAAGGCAAAGGGGAGGGAGGTCTGCTCCAGCTCAACCAAAGAGGGAGGTGGAAAAGGGGCTAACCAAACAGCCTCATGGCCACGGAAGGGGGAATGACAAAAAATAAATTAAACACCCTTAATATTGACGGAGTTGTCAAACCAGAGGGGAAAGTGGCAGAAAATGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGGTGGGAAAAATGCAATACCCGTCTCCTCTTGCCATAGGAAGAATTACTATACCACCTCTCAACGCTGCCACTTTCTTTTAACAGGCGGTTTTATCTTTAGCTGTAGAGGCTAAAATTCAATCTGGAAAGGCTTGAAAGGAGAAAGAGAAACAAGAGGAGAAAGAGAAGTGACTCCGATGCAAAGACAGAAAGGAAATGACAAATAAGAGAGTGAGACTGTGAGCATGAAGAACACCGAGCGCCCTGGGTCAGGCGTTGTGAAAATGAAGAGATGATTAAGGATAAGATGCTTAAAAGGTACAGCTCCTAAAGACCCTGGGAGCACCTCAAGGCTCCCTGTGCGCCCTGCAGCAATGGCACCCTAAGGCTCAGATGCAACTTTGCCAGGAGTCTCCGGGGTCCCACAGGCGAGGGAGAGTCACAGAAACTCCCTTTCCAACTAAGTGCATTCCGTTATAACAGCTGCTGACAGTGCATCTGTCCTTTTAAAGTTCCCCAGAAAAGCAGAATGTATGGATGGATCTATACAGAGCTCCCTGCTTGTATTCATGGTTGACAAGGCAACACCAATTTGGAGACATCCTCACTGAGTAGCCGCAAGAAGCAAGAGAAGAGGGAGATAAATTATCTACACCAATTTTTTTCTGTCGATTTTTTTTCTGTAAAAGAACAGATAGTAAATATTTTCAGCTTCATGGGCCACACTGTGGTCTCTGAGGCAACTACTCAACTCTGATGTTGTCATGCAAAAGCAGTCAGACAGTACATAAAGAAATGAGTGTGACTATATTCCAATAAAACTTTATTTACAAAAACGGAAGAACGCCGGATTTGTCCTGAGGGCTACACTGTGTTGATCCCTGGTATAAAAATCACAGACAAAGACACTGTCCACTTCCATTTTCCAGTTTTCCATTGGAAGTTAGAGTATATATCCTTGGAAAGACCTTGGCTTTGCAACTGAGGGTTGCATGGACAGGAATGTAAACTTGAGGAAATGCTTGAGACAGTTCCAGCGGCCACATCTCCCTCTGTGTGGAGGATAGAAGAGAAGTGAGAAAGCGTAGGAAGCAAAGCTAGAGAATAAGCTCTGCCCAGGGATCCTTATGGCCTCTTCCACATTATCCTACACTCATTCCTAGAATGTTAAGCTCACCTGCTCATCCAGAGGAAGCTTGAAGACCAAATACTTAAGAGTGGGCATGAGAAAACTGTACCAATACAGGGGCTGGGAATACACCTTACGTGGAGGGAAATATGCGGAAAGCTTTGCCTACATGCTTGTGTGCATGGGTGCCTATGCACACAAACGAGAAAGGCAGAGCCAGGGAGAATGATTCCAGGGTCATTCTCCAAGCTATTGTAGTCAGCCCTCTGGGGCTGGGCCGTGAGCATGGCCTCATGTGGCCCTGAGACAACGGCCTAACCTCCAAGGCACCCACTCTGTGGGTCGGGGCTCATGTATTCCCTGCAAGACAACACATTATGAGCCAAGGATGGGGCTGCCTGGGGCGCTGGAGTCCCAACTTACCTGGACACGGAAGGGTAGTAGAGCATGGCGGCTCCCTCCACACAGAGCAGGGTGGCCAGGCCCCACGCCATGATGTGATACAGCAGGATGGTGCTAGGGGACAAGCACAACAGCAGCCACAGCTCAGTGGGGCACAGAGGCCTGCCTGGAACTGCCAGGCCAGCTCCTGCGCTCTGGAAAGGTCAGGAAAATGTACACAGAGGAAAGCCCCTCGGCAAAGAGTTTCCTCGTGCTGCTGAGGTTGGTTGGTTGTTTTCCATTGAGGTGAAATTCACATCACATAAAATTAACTATTTTAAAGTGAACAACAAAGTGGCATTTAGTACATTCACAATGCTCTGCAGCCATCACCAGCGTCTCCTTCCAAAATGTTTTCATCATTCCAAAAGGAGACCCCATATCCATTAATTGGTGATATGGTTAGGCTTTGTGTCTCCACCTGAATCTCATCTTGAATTGTAATCTCCAAAATCCCAAGGGATAGAACAAGTTGAACTAATCACTGTTGGATGGAAATCAATTGGTTAGGTGGTTGGAGGACGGAAATGACCAGGTGGAGGTAATTGAATCATGGGGGCGGTTTCCCCCATGCTGTTCTCGTGATAGTGAGTGAGTTCTCACGAGAGCTGATGGTTTTATAAGGGGATTTCCCTCCCCCCCCAACCCCCTCCGGCCCCCAATCGCTCGGCTGCCTTGTGAAGAAGGTGTCCTGCTTCCCCTTGGCCTTCTGCCACGATTGTAAGTTTCCTGAGACCTCCCCAGCCACGCTGAACTGTGAGTCAATTAAACCTCTTTCCTTTATCAATTAGTCTCAGGCAGTTCTTCATAGCAGTGTGAGAAGAGGCTAATATAAATGGTCACTCCCCTTTGCCCATCCCCCAGCCCCTAGCAACCACTAATCTAGTTTCTGTCTCTGTGGATTTGCATGTTCTGGATATTTCATGTAAATGGAAATATATGCTACGTGGCCTTCTGCACCTGGCTTCCTTCACTCAGCATAATGCTTTCCAGGTTCACTGACGTTGTAGCATGGATCAGTTTCTTCATTCCCTTGTTTCTTTTAATATTCTGTTGAGGCAGTATCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCGTGATCTCAAGCAATCCTCCCACCTTGGCCTCCCAAATTGCTGGGATTATAGGCATGAGCCACTGTGCCCTTTCTTTCCTCTTTTTGTAGGGGTTAGGGGTCAGGGTCTTGCACTGTCATTCAGACTGCAGTGCAGTGGTGCAATCTCGGCTCACTGCAACTGTCTCCTGAGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACGCCATCATGCCCAGCTATTTCTTTGTATTTTTTTGTGGAGATGAGGTTATGCCATGTTGCCAGGCTGCTCTTGAACTCCTCAGTTCAAGTGATCCCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAGCGGCGGCCCTTTCTTCCCTTTTTCTGACTGAATACCATTCCATTGTATACATGGGCCAAGATTCACCCATCAATGGACATTTAGGTTGTTTCCACTGTTTGTCTACTGTGAGTAGGGCTGCTATGAACATGTGTTATGTACCAGTATTTGTTTGAGTTCCTGTTTTGTTTTGAGATAGAGTCTCACTCTGTGGCCCAGGCTGGAGTCCAGTGATGCAATCATAGTTCACTGCAGCCTCCAATTCCTAGGCGTAAGCAACCCTCCCACCTAAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTGTAGAGATGGGTCTTACTATGTTGCCCAGGCTGGTTTCAAACTCCTGGCCTCAGTGATCCCCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCTGGGTTCCTGTTTTCAGTTCTTTGGGGTGTATACGTGGGAGTGGAGTTGCTGGGTCAGATGGCATTTTTTTTTTCAAGATGGAGACTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGG
|
CCAGCTGCATATTTCAGAGGAAATGTGTTCTCATGGTTATGGATAACAATAGTTTCAGAGGTTCTTGTCAGAGAAAAGGACAAAGATTTCTACTGAGGGGTCATAGGAGTCACTGGTCACCACAGAATGTGCTGGAGGGCCTCACAAACATATGTTACCAAGGTAACAACTCTCAGCTGCGAAATGCTTAATGTAGGAGAGAAGCAAAATGGCACAGAGGAAGAGGAAACTGAAGGCAAAGGGGAGGGAGGTCTGCTCCAGCTCAACCAAAGAGGGAGGTGGAAAAGGGGCTAACCAAACAGCCTCATGGCCACGGAAGGGGGAATGACAAAAAATAAATTAAACACCCTTAATATTGACGGAGTTGTCAAACCAGAGGGGAAAGTGGCAGAAAATGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGGTGGGAAAAATGCAATACCCGTCTCCTCTTGCCATAGGAAGAATTACTATACCACCTCTCAACGCTGCCACTTTCTTTTAACAGGCGGTTTTATCTTTAGCTGTAGAGGCTAAAATTCAATCTGGAAAGGCTTGAAAGGAGAAAGAGAAACAAGAGGAGAAAGAGAAGTGACTCCGATGCAAAGACAGAAAGGAAATGACAAATAAGAGAGTGAGACTGTGAGCATGAAGAACACCGAGCGCCCTGGGTCAGGCGTTGTGAAAATGAAGAGATGATTAAGGATAAGATGCTTAAAAGGTACAGCTCCTAAAGACCCTGGGAGCACCTCAAGGCTCCCTGTGCGCCCTGCAGCAATGGCACCCTAAGGCTCAGATGCAACTTTGCCAGGAGTCTCCGGGGTCCCACAGGCGAGGGAGAGTCACAGAAACTCCCTTTCCAACTAAGTGCATTCCGTTATAACAGCTGCTGACAGTGCATCTGTCCTTTTAAAGTTCCCCAGAAAAGCAGAATGTATGGATGGATCTATACAGAGCTCCCTGCTTGTATTCATGGTTGACAAGGCAACACCAATTTGGAGACATCCTCACTGAGTAGCCGCAAGAAGCAAGAGAAGAGGGAGATAAATTATCTACACCAATTTTTTTCTGTCGATTTTTTTTCTGTAAAAGAACAGATAGTAAATATTTTCAGCTTCATGGGCCACACTGTGGTCTCTGAGGCAACTACTCAACTCTGATGTTGTCATGCAAAAGCAGTCAGACAGTACATAAAGAAATGAGTGTGACTATATTCCAATAAAACTTTATTTACAAAAACGGAAGAACGCCGGATTTGTCCTGAGGGCTACACTGTGTTGATCCCTGGTATAAAAATCACAGACAAAGACACTGTCCACTTCCATTTTCCAGTTTTCCATTGGAAGTTAGAGTATATATCCTTGGAAAGACCTTGGCTTTGCAACTGAGGGTTGCATGGACAGGAATGTAAACTTGAGGAAATGCTTGAGACAGTTCCAGCGGCCACATCTCCCTCTGTGTGGAGGATAGAAGAGAAGTGAGAAAGCGTAGGAAGCAAAGCTAGAGAATAAGCTCTGCCCAGGGATCCTTATGGCCTCTTCCACATTATCCTACACTCATTCCTAGAATGTTAAGCTCACCTGCTCATCCAGAGGAAGCTTGAAGACCAAATACTTAAGAGTGGGCATGAGAAAACTGTACCAATACAGGGGCTGGGAATACACCTTACGTGGAGGGAAATATGCGGAAAGCTTTGCCTACATGCTTGTGTGCATGGGTGCCTATGCACACAAACGAGAAAGGCAGAGCCAGGGAGAATGATTCCAGGGTCATTCTCCAAGCTATTGTAGTCAGCCCTCTGGGGCTGGGCCGTGAGCATGGCCTCATGTGGCCCTGAGACAACGGCCTAACCTCCAAGGCACCCACTCTGTGGGTCGGGGCTCATGTATTCCCTGCAAGACAACACATTATGAGCCAAGGATGGGGCTGCCTGGGGCGCTGGAGTCCCAACTTACCTGGACACGGAAGGGTAGTAGAGCATGGCGGCTCCCTCCACACAGAGCAGGGTGGCCAGGCCCCACGCCATGATGTGATACAGCAGGTGGTGCTAGGGGACAAGCACAACAGCAGCCACAGCTCAGTGGGGCACAGAGGCCTGCCTGGAACTGCCAGGCCAGCTCCTGCGCTCTGGAAAGGTCAGGAAAATGTACACAGAGGAAAGCCCCTCGGCAAAGAGTTTCCTCGTGCTGCTGAGGTTGGTTGGTTGTTTTCCATTGAGGTGAAATTCACATCACATAAAATTAACTATTTTAAAGTGAACAACAAAGTGGCATTTAGTACATTCACAATGCTCTGCAGCCATCACCAGCGTCTCCTTCCAAAATGTTTTCATCATTCCAAAAGGAGACCCCATATCCATTAATTGGTGATATGGTTAGGCTTTGTGTCTCCACCTGAATCTCATCTTGAATTGTAATCTCCAAAATCCCAAGGGATAGAACAAGTTGAACTAATCACTGTTGGATGGAAATCAATTGGTTAGGTGGTTGGAGGACGGAAATGACCAGGTGGAGGTAATTGAATCATGGGGGCGGTTTCCCCCATGCTGTTCTCGTGATAGTGAGTGAGTTCTCACGAGAGCTGATGGTTTTATAAGGGGATTTCCCTCCCCCCCCAACCCCCTCCGGCCCCCAATCGCTCGGCTGCCTTGTGAAGAAGGTGTCCTGCTTCCCCTTGGCCTTCTGCCACGATTGTAAGTTTCCTGAGACCTCCCCAGCCACGCTGAACTGTGAGTCAATTAAACCTCTTTCCTTTATCAATTAGTCTCAGGCAGTTCTTCATAGCAGTGTGAGAAGAGGCTAATATAAATGGTCACTCCCCTTTGCCCATCCCCCAGCCCCTAGCAACCACTAATCTAGTTTCTGTCTCTGTGGATTTGCATGTTCTGGATATTTCATGTAAATGGAAATATATGCTACGTGGCCTTCTGCACCTGGCTTCCTTCACTCAGCATAATGCTTTCCAGGTTCACTGACGTTGTAGCATGGATCAGTTTCTTCATTCCCTTGTTTCTTTTAATATTCTGTTGAGGCAGTATCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCGTGATCTCAAGCAATCCTCCCACCTTGGCCTCCCAAATTGCTGGGATTATAGGCATGAGCCACTGTGCCCTTTCTTTCCTCTTTTTGTAGGGGTTAGGGGTCAGGGTCTTGCACTGTCATTCAGACTGCAGTGCAGTGGTGCAATCTCGGCTCACTGCAACTGTCTCCTGAGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACGCCATCATGCCCAGCTATTTCTTTGTATTTTTTTGTGGAGATGAGGTTATGCCATGTTGCCAGGCTGCTCTTGAACTCCTCAGTTCAAGTGATCCCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAGCGGCGGCCCTTTCTTCCCTTTTTCTGACTGAATACCATTCCATTGTATACATGGGCCAAGATTCACCCATCAATGGACATTTAGGTTGTTTCCACTGTTTGTCTACTGTGAGTAGGGCTGCTATGAACATGTGTTATGTACCAGTATTTGTTTGAGTTCCTGTTTTGTTTTGAGATAGAGTCTCACTCTGTGGCCCAGGCTGGAGTCCAGTGATGCAATCATAGTTCACTGCAGCCTCCAATTCCTAGGCGTAAGCAACCCTCCCACCTAAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTGTAGAGATGGGTCTTACTATGTTGCCCAGGCTGGTTTCAAACTCCTGGCCTCAGTGATCCCCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCTGGGTTCCTGTTTTCAGTTCTTTGGGGTGTATACGTGGGAGTGGAGTTGCTGGGTCAGATGGCATTTTTTTTTTCAAGATGGAGACTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGN
|
pathogenic
| 329,623 |
Classify the chromosome X variant at position 9765568 affecting gene GPR143 (G protein-coupled receptor 143) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Nystagmus_6,_congenital,_X-linked']
|
ATTATTATGTTTTAGGGCTCTCTCTGAGATCTGAATGGGCAGGATGATGGAGCCTGAGATTGGCTTCACATTAATCCAGTGAGGAGGGTGAAGAGGGGAGCAGATGAGCCGGGTACCCGTACCTCACGAATCCCACGTACAGGGATTCACTGTAAGTGTTTCTATTATAGACTGCATTTACGCATGGTGGAAATGTTCCAAAAAGCTAAACAGAATGGCCAAATCTAGCTGAGAGGTCTGTATAAAGTGTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAATATTTTTTAATTTTGATTTTTAAAAACATTTTAGGGCTGGGTGAGGTGGCTCACGCCTGTAATCCTAACACTTTACGATGCCAAGGGTGGTGATCTTTTAATTAAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATAGTGAGACCCCACATATATTTACCCTAGCATGGTGGCGTGTGGCTGTAGTCCCAGCTACTCGGGTAGCTGAGGTGGGAGGATCGCTTGAACCCAGGAGGTCGAGGCTGCAGTGAGCTGTGATTGTGACACTGCACTCAACCTGGGCAAGAGGGTGAGACCCTGTCTCAAAAAACAAAATCATTAATTTTTTAAAAAGTAGGATGTAAAACCATTCTTAGCTCGTGGACCCTAGAAAACGGGCAGGATTTGGTCTGAGGGCTGCAGTTTGCGCACCTGTGGTGTAAAAACCATACCCAAAAAGCCTGGATAGGGAAGGGATTTCAGCTTACAAAATACTCGAGAGAATATATAGTGCACAATAGAAAAGAATTTACACACGCGCACACACACACACACACACACACACACACACACACACACAGAGCGAGACAGAGAGAAGTTAATTGTTAGTCTCTCCCTGGTGCAGTTGGGCAAAAATGAGGAAATCTTTTCTGGTCTGGGTTTTGCTTAACTGCGCCATCTGAAGTTTCCATATAACAAACACAATAAACGGATTTTTTAAAACCCAACGTCCCTTGGATGGGAATTTTACCGACCATGTGTTTGCAAAACTACCTAGTCGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGTCGGGCATGGTGGCGCGCGCCTCCCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGTCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACCTAGTTGTCCCATCCGGTCCCTAGGGAACAGCCTCCGCTTTCTCTTTTCTCTGTGGTTCAAGTGTTAAGACGGCCAGCCCAACCCGCTAGCCGTGCGCCATCACCCGGGCACCGATCAAGTTCCAACCCGAGTGGATCGAGTTCCAACCTGCGGGCCATGCGCCCTCACCCGGGCATCGATCCGGTCTCAACCTGCGGGCCACGCACTCTCACCCGGGGATTGAGCAGGTCCCAACCCCAGGGCCTCACGCCCTCACCCCAGCACTGAGCAGGTCCCAACCCGCGGGCCTCAAGCCCTCAGCCGGGGACCGAGCAGGTCCCAACCAGCCAGCTACGCGCCCTCAGCCCTGCACCGGGCAGGTTCCAACCCGCGGGCCTCTCGTCCTCACTCCATCACGGAACAGGTCCAAATCCACAGGCCGTGCGCCCTTATCCGGGCACCAGTCGGGTCTCAACCTGCGGGCCACGCGCCCTCACCCAGGCGCTGATCAGATTCCAACCCGCGGGCCGCGCGCGCCCTTACCCAGGCAGCCGAGAAGGTCGCAGGCAGCGGCAGCGCGCAGGATGCGGACCGAGGCCGGCGGGGACGTCGCGGGGGACCCGGGGCCCGCGGGCCGGCGGCCGGGCAGCAGCTGCAGAAGGCCCAGCGCCAAGCGGAGCCCGCCGCTGCCCAGGCAGAGCGCGTGGAAGGCCCGCGGCTGGAAGCTCAGCACGAGCTGCGTGGCTGCGTCCCGCGTGGGGCAGCAGAAGGTCCCTAGGCGCGGGGAGGCCATGGGCTGTGTTCGCGGACGCGGCTCGGGTGTGCCAGGACCCCGCCGGCCTGCCTGGGTCATGTGCTGGGCGGGCTGGGGGCGGCATCATGTGCCCTGGGCCTCTCCCCCACCCCAACCCCCAGCGCCTGCAGTAGAGCCAGGCTCGGTGGGGGCCGAGAGCACTGGGCTAACGCCACGAGGCCTCACGAGGTGATGCTTGGGCGGGCGGAGGAGGAGGACAGAGAGAGGGAGGGCTGAGAGGAGAGGAAGAGGGAGGAGGAGGAGGGAAGTGGAAGGAGAAGCAGAAAGGTTGGGAAGGTTACCTTTCTCCCCATTCACCAAGCCTTCCTGGTGGTTTCTCTGCCACCTAGAGCGCCAAACCTGCCATCTTTACTGGTCTTCTAGAGAAACAGGCCTCGTGGACTAGATCTTTCCTATTTGGGACTCTGACATCCTGATTTTGATGCCTTTAAGGCGCCAGAACATGTTCATAAACTGTGACTGATCCCTGTAACTGCTTTTTTCCTAAGTAGAGATGGTTGTCCAATTAGTGCTTTTTTTTATGGCCTCTCTCATTCATGGATATAATCCCACAGAGGCAGGATTTTCGTTTACAATTAATGAATGAAACAAACAGATCAATGTTAAAGAAAGAGCAGTAGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCGCTTGAGCTCAAGAGTTGGAGACCAGCGTGGGCAACATGGCGAAACCCCACCTCTATTAAAAATACAAACATTAGCCCGGTGTGGTGGCCCAGGCCTGTGATCCAAGCTACTCGGCAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGTTTGCAGTGAGCCAAGATAGTGCCACTGCACTCCAGCCTGAGCGATAGAGCCAGACCTTGTATCAAAAAACGAAACAAAACAAAAATTAGCTGGATGTGGTGGGGCGTGCTTGTAGCCCTAGCTTCTGGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCGGCAAGTGGAGGTTGCAGTGAGCAGAGATTACACCACTGCACTCCAGCCTGAGCAATGGAGTGAGACCCTATCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGAATTAAGTTTAAAATTTAAAAACATTAAAAAAATAAAGGGAAAAGTACTCAGCATAAGTACACACAGACACATTTTGCACCTTAACTTTCAGTTCTATTTATTTGGATTTTTCTTAACTGCGTTAATTTTTCTATGTTTTCTCATACATTGAAAATCTTGCTTTATTCTATACATGTAAGTTTCCAAGTAATATTGTGTTAATGATTACAGTAAGCATACTAAGATTTTTTTTTTTAAGTTCTTCAAGGCTGAAAATAGAAGTGCTCCTTCTAGATTATGGCCTTTATTTTAAAAAAAGAAAAGAAAAAAAAATCCAGCTCCATCATATTTATCATCTTCAACAAACCTCATTGGCTCTTTGTGACCACACAAGAGACACCCTTCCTCCTCTCTCCTGGTAAAATGGGCCCCTCTCTGGGTTTTTTTCAAGCAACCAAGGTGCAGGTGTCCCCATTGTGTTCATGGACTTTCCTCACTTGTTCTCCCCACCAGCTTTGCGGTTTTAAGGAAGGCATGATCTGTGCCGTCTTCCTCTAGGGATAGCAGGACTGGCCTTCCCTTGGGACCCCACAGAAGGCAGGCGGGAGGCTCCACTGCCAGACAGGAAGCGGAGCCTTATTTAACAACAATGAGGTGCAAACTCCACCACTTCAAAAGAGTCCAGAT
|
ATTATTATGTTTTAGGGCTCTCTCTGAGATCTGAATGGGCAGGATGATGGAGCCTGAGATTGGCTTCACATTAATCCAGTGAGGAGGGTGAAGAGGGGAGCAGATGAGCCGGGTACCCGTACCTCACGAATCCCACGTACAGGGATTCACTGTAAGTGTTTCTATTATAGACTGCATTTACGCATGGTGGAAATGTTCCAAAAAGCTAAACAGAATGGCCAAATCTAGCTGAGAGGTCTGTATAAAGTGTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAATATTTTTTAATTTTGATTTTTAAAAACATTTTAGGGCTGGGTGAGGTGGCTCACGCCTGTAATCCTAACACTTTACGATGCCAAGGGTGGTGATCTTTTAATTAAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATAGTGAGACCCCACATATATTTACCCTAGCATGGTGGCGTGTGGCTGTAGTCCCAGCTACTCGGGTAGCTGAGGTGGGAGGATCGCTTGAACCCAGGAGGTCGAGGCTGCAGTGAGCTGTGATTGTGACACTGCACTCAACCTGGGCAAGAGGGTGAGACCCTGTCTCAAAAAACAAAATCATTAATTTTTTAAAAAGTAGGATGTAAAACCATTCTTAGCTCGTGGACCCTAGAAAACGGGCAGGATTTGGTCTGAGGGCTGCAGTTTGCGCACCTGTGGTGTAAAAACCATACCCAAAAAGCCTGGATAGGGAAGGGATTTCAGCTTACAAAATACTCGAGAGAATATATAGTGCACAATAGAAAAGAATTTACACACGCGCACACACACACACACACACACACACACACACACACACACAGAGCGAGACAGAGAGAAGTTAATTGTTAGTCTCTCCCTGGTGCAGTTGGGCAAAAATGAGGAAATCTTTTCTGGTCTGGGTTTTGCTTAACTGCGCCATCTGAAGTTTCCATATAACAAACACAATAAACGGATTTTTTAAAACCCAACGTCCCTTGGATGGGAATTTTACCGACCATGTGTTTGCAAAACTACCTAGTCGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGTCGGGCATGGTGGCGCGCGCCTCCCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGTCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACCTAGTTGTCCCATCCGGTCCCTAGGGAACAGCCTCCGCTTTCTCTTTTCTCTGTGGTTCAAGTGTTAAGACGGCCAGCCCAACCCGCTAGCCGTGCGCCATCACCCGGGCACCGATCAAGTTCCAACCCGAGTGGATCGAGTTCCAACCTGCGGGCCATGCGCCCTCACCCGGGCATCGATCCGGTCTCAACCTGCGGGCCACGCACTCTCACCCGGGGATTGAGCAGGTCCCAACCCCAGGGCCTCACGCCCTCACCCCAGCACTGAGCAGGTCCCAACCCGCGGGCCTCAAGCCCTCAGCCGGGGACCGAGCAGGTCCCAACCAGCCAGCTACGCGCCCTCAGCCCTGCACCGGGCAGGTTCCAACCCGCGGGCCTCTCGTCCTCACTCCATCACGGAACAGGTCCAAATCCACAGGCCGTGCGCCCTTATCCGGGCACCAGTCGGGTCTCAACCTGCGGGCCACGCGCCCTCACCCAGGCGCTGATCAGATTCCAACCCGCGGGCCGCGCGCGCCCTTACCCAGGCAGCCGAGAAGGTCGCAGGCAGCCGAGAAGGTCGCAGGCAGCGGCAGCGCGCAGGATGCGGACCGAGGCCGGCGGGGACGTCGCGGGGGACCCGGGGCCCGCGGGCCGGCGGCCGGGCAGCAGCTGCAGAAGGCCCAGCGCCAAGCGGAGCCCGCCGCTGCCCAGGCAGAGCGCGTGGAAGGCCCGCGGCTGGAAGCTCAGCACGAGCTGCGTGGCTGCGTCCCGCGTGGGGCAGCAGAAGGTCCCTAGGCGCGGGGAGGCCATGGGCTGTGTTCGCGGACGCGGCTCGGGTGTGCCAGGACCCCGCCGGCCTGCCTGGGTCATGTGCTGGGCGGGCTGGGGGCGGCATCATGTGCCCTGGGCCTCTCCCCCACCCCAACCCCCAGCGCCTGCAGTAGAGCCAGGCTCGGTGGGGGCCGAGAGCACTGGGCTAACGCCACGAGGCCTCACGAGGTGATGCTTGGGCGGGCGGAGGAGGAGGACAGAGAGAGGGAGGGCTGAGAGGAGAGGAAGAGGGAGGAGGAGGAGGGAAGTGGAAGGAGAAGCAGAAAGGTTGGGAAGGTTACCTTTCTCCCCATTCACCAAGCCTTCCTGGTGGTTTCTCTGCCACCTAGAGCGCCAAACCTGCCATCTTTACTGGTCTTCTAGAGAAACAGGCCTCGTGGACTAGATCTTTCCTATTTGGGACTCTGACATCCTGATTTTGATGCCTTTAAGGCGCCAGAACATGTTCATAAACTGTGACTGATCCCTGTAACTGCTTTTTTCCTAAGTAGAGATGGTTGTCCAATTAGTGCTTTTTTTTATGGCCTCTCTCATTCATGGATATAATCCCACAGAGGCAGGATTTTCGTTTACAATTAATGAATGAAACAAACAGATCAATGTTAAAGAAAGAGCAGTAGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCGCTTGAGCTCAAGAGTTGGAGACCAGCGTGGGCAACATGGCGAAACCCCACCTCTATTAAAAATACAAACATTAGCCCGGTGTGGTGGCCCAGGCCTGTGATCCAAGCTACTCGGCAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGTTTGCAGTGAGCCAAGATAGTGCCACTGCACTCCAGCCTGAGCGATAGAGCCAGACCTTGTATCAAAAAACGAAACAAAACAAAAATTAGCTGGATGTGGTGGGGCGTGCTTGTAGCCCTAGCTTCTGGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCGGCAAGTGGAGGTTGCAGTGAGCAGAGATTACACCACTGCACTCCAGCCTGAGCAATGGAGTGAGACCCTATCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGAATTAAGTTTAAAATTTAAAAACATTAAAAAAATAAAGGGAAAAGTACTCAGCATAAGTACACACAGACACATTTTGCACCTTAACTTTCAGTTCTATTTATTTGGATTTTTCTTAACTGCGTTAATTTTTCTATGTTTTCTCATACATTGAAAATCTTGCTTTATTCTATACATGTAAGTTTCCAAGTAATATTGTGTTAATGATTACAGTAAGCATACTAAGATTTTTTTTTTTAAGTTCTTCAAGGCTGAAAATAGAAGTGCTCCTTCTAGATTATGGCCTTTATTTTAAAAAAAGAAAAGAAAAAAAAATCCAGCTCCATCATATTTATCATCTTCAACAAACCTCATTGGCTCTTTGTGACCACACAAGAGACACCCTTCCTCCTCTCTCCTGGTAAAATGGGCCCCTCTCTGGGTTTTTTTCAAGCAACCAAGGTGCAGGTGTCCCCATTGTGTTCATGGACTTTCCTCACTTGTTCTCCCCACCAGCTTTGCGGTTTTAAGGAAGGCATGATCTGTGCCGTCTTCCTCTAGGGATAGCAGGACTGGCCTTCCCTTGGGACCCCACAGAAGGCAGGCGGGAGGCTCCACTGCCAGACAGGAAGCGGAGCCTTATTTAACAACAATGAGGTGCAAACTCCACC
|
pathogenic
| 329,634 |
Clinical classification of chromosome X, position 9765781, gene GPR143 (G protein-coupled receptor 143): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Nystagmus', 'Ocular_albinism', 'Ocular_albinism,_type_I', 'Reduced_eye_contact']
|
AATGGCCAAATCTAGCTGAGAGGTCTGTATAAAGTGTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAATATTTTTTAATTTTGATTTTTAAAAACATTTTAGGGCTGGGTGAGGTGGCTCACGCCTGTAATCCTAACACTTTACGATGCCAAGGGTGGTGATCTTTTAATTAAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATAGTGAGACCCCACATATATTTACCCTAGCATGGTGGCGTGTGGCTGTAGTCCCAGCTACTCGGGTAGCTGAGGTGGGAGGATCGCTTGAACCCAGGAGGTCGAGGCTGCAGTGAGCTGTGATTGTGACACTGCACTCAACCTGGGCAAGAGGGTGAGACCCTGTCTCAAAAAACAAAATCATTAATTTTTTAAAAAGTAGGATGTAAAACCATTCTTAGCTCGTGGACCCTAGAAAACGGGCAGGATTTGGTCTGAGGGCTGCAGTTTGCGCACCTGTGGTGTAAAAACCATACCCAAAAAGCCTGGATAGGGAAGGGATTTCAGCTTACAAAATACTCGAGAGAATATATAGTGCACAATAGAAAAGAATTTACACACGCGCACACACACACACACACACACACACACACACACACACACAGAGCGAGACAGAGAGAAGTTAATTGTTAGTCTCTCCCTGGTGCAGTTGGGCAAAAATGAGGAAATCTTTTCTGGTCTGGGTTTTGCTTAACTGCGCCATCTGAAGTTTCCATATAACAAACACAATAAACGGATTTTTTAAAACCCAACGTCCCTTGGATGGGAATTTTACCGACCATGTGTTTGCAAAACTACCTAGTCGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGTCGGGCATGGTGGCGCGCGCCTCCCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGTCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACCTAGTTGTCCCATCCGGTCCCTAGGGAACAGCCTCCGCTTTCTCTTTTCTCTGTGGTTCAAGTGTTAAGACGGCCAGCCCAACCCGCTAGCCGTGCGCCATCACCCGGGCACCGATCAAGTTCCAACCCGAGTGGATCGAGTTCCAACCTGCGGGCCATGCGCCCTCACCCGGGCATCGATCCGGTCTCAACCTGCGGGCCACGCACTCTCACCCGGGGATTGAGCAGGTCCCAACCCCAGGGCCTCACGCCCTCACCCCAGCACTGAGCAGGTCCCAACCCGCGGGCCTCAAGCCCTCAGCCGGGGACCGAGCAGGTCCCAACCAGCCAGCTACGCGCCCTCAGCCCTGCACCGGGCAGGTTCCAACCCGCGGGCCTCTCGTCCTCACTCCATCACGGAACAGGTCCAAATCCACAGGCCGTGCGCCCTTATCCGGGCACCAGTCGGGTCTCAACCTGCGGGCCACGCGCCCTCACCCAGGCGCTGATCAGATTCCAACCCGCGGGCCGCGCGCGCCCTTACCCAGGCAGCCGAGAAGGTCGCAGGCAGCGGCAGCGCGCAGGATGCGGACCGAGGCCGGCGGGGACGTCGCGGGGGACCCGGGGCCCGCGGGCCGGCGGCCGGGCAGCAGCTGCAGAAGGCCCAGCGCCAAGCGGAGCCCGCCGCTGCCCAGGCAGAGCGCGTGGAAGGCCCGCGGCTGGAAGCTCAGCACGAGCTGCGTGGCTGCGTCCCGCGTGGGGCAGCAGAAGGTCCCTAGGCGCGGGGAGGCCATGGGCTGTGTTCGCGGACGCGGCTCGGGTGTGCCAGGACCCCGCCGGCCTGCCTGGGTCATGTGCTGGGCGGGCTGGGGGCGGCATCATGTGCCCTGGGCCTCTCCCCCACCCCAACCCCCAGCGCCTGCAGTAGAGCCAGGCTCGGTGGGGGCCGAGAGCACTGGGCTAACGCCACGAGGCCTCACGAGGTGATGCTTGGGCGGGCGGAGGAGGAGGACAGAGAGAGGGAGGGCTGAGAGGAGAGGAAGAGGGAGGAGGAGGAGGGAAGTGGAAGGAGAAGCAGAAAGGTTGGGAAGGTTACCTTTCTCCCCATTCACCAAGCCTTCCTGGTGGTTTCTCTGCCACCTAGAGCGCCAAACCTGCCATCTTTACTGGTCTTCTAGAGAAACAGGCCTCGTGGACTAGATCTTTCCTATTTGGGACTCTGACATCCTGATTTTGATGCCTTTAAGGCGCCAGAACATGTTCATAAACTGTGACTGATCCCTGTAACTGCTTTTTTCCTAAGTAGAGATGGTTGTCCAATTAGTGCTTTTTTTTATGGCCTCTCTCATTCATGGATATAATCCCACAGAGGCAGGATTTTCGTTTACAATTAATGAATGAAACAAACAGATCAATGTTAAAGAAAGAGCAGTAGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCGCTTGAGCTCAAGAGTTGGAGACCAGCGTGGGCAACATGGCGAAACCCCACCTCTATTAAAAATACAAACATTAGCCCGGTGTGGTGGCCCAGGCCTGTGATCCAAGCTACTCGGCAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGTTTGCAGTGAGCCAAGATAGTGCCACTGCACTCCAGCCTGAGCGATAGAGCCAGACCTTGTATCAAAAAACGAAACAAAACAAAAATTAGCTGGATGTGGTGGGGCGTGCTTGTAGCCCTAGCTTCTGGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCGGCAAGTGGAGGTTGCAGTGAGCAGAGATTACACCACTGCACTCCAGCCTGAGCAATGGAGTGAGACCCTATCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGAATTAAGTTTAAAATTTAAAAACATTAAAAAAATAAAGGGAAAAGTACTCAGCATAAGTACACACAGACACATTTTGCACCTTAACTTTCAGTTCTATTTATTTGGATTTTTCTTAACTGCGTTAATTTTTCTATGTTTTCTCATACATTGAAAATCTTGCTTTATTCTATACATGTAAGTTTCCAAGTAATATTGTGTTAATGATTACAGTAAGCATACTAAGATTTTTTTTTTTAAGTTCTTCAAGGCTGAAAATAGAAGTGCTCCTTCTAGATTATGGCCTTTATTTTAAAAAAAGAAAAGAAAAAAAAATCCAGCTCCATCATATTTATCATCTTCAACAAACCTCATTGGCTCTTTGTGACCACACAAGAGACACCCTTCCTCCTCTCTCCTGGTAAAATGGGCCCCTCTCTGGGTTTTTTTCAAGCAACCAAGGTGCAGGTGTCCCCATTGTGTTCATGGACTTTCCTCACTTGTTCTCCCCACCAGCTTTGCGGTTTTAAGGAAGGCATGATCTGTGCCGTCTTCCTCTAGGGATAGCAGGACTGGCCTTCCCTTGGGACCCCACAGAAGGCAGGCGGGAGGCTCCACTGCCAGACAGGAAGCGGAGCCTTATTTAACAACAATGAGGTGCAAACTCCACCACTTCAAAAGAGTCCAGATCTGGCACGTCTATAAACGCAGCCTGTTCACTCCACAGCTGCCTTCCTAGAAGTCAGAACAGACTGACATCTTCAGAAAGCTTAACAGCTCTGCTGGATTACACACTCCATTGTAAAAACAGTCAGAAGCACCATAGAACTACTCCCCAAGCATTAATGTTTAAAAGCTTGAATTCTAATATCTAATTTGGACAGTGGCTCTCTTTCCTTCTGC
|
AATGGCCAAATCTAGCTGAGAGGTCTGTATAAAGTGTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAATATTTTTTAATTTTGATTTTTAAAAACATTTTAGGGCTGGGTGAGGTGGCTCACGCCTGTAATCCTAACACTTTACGATGCCAAGGGTGGTGATCTTTTAATTAAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATAGTGAGACCCCACATATATTTACCCTAGCATGGTGGCGTGTGGCTGTAGTCCCAGCTACTCGGGTAGCTGAGGTGGGAGGATCGCTTGAACCCAGGAGGTCGAGGCTGCAGTGAGCTGTGATTGTGACACTGCACTCAACCTGGGCAAGAGGGTGAGACCCTGTCTCAAAAAACAAAATCATTAATTTTTTAAAAAGTAGGATGTAAAACCATTCTTAGCTCGTGGACCCTAGAAAACGGGCAGGATTTGGTCTGAGGGCTGCAGTTTGCGCACCTGTGGTGTAAAAACCATACCCAAAAAGCCTGGATAGGGAAGGGATTTCAGCTTACAAAATACTCGAGAGAATATATAGTGCACAATAGAAAAGAATTTACACACGCGCACACACACACACACACACACACACACACACACACACACAGAGCGAGACAGAGAGAAGTTAATTGTTAGTCTCTCCCTGGTGCAGTTGGGCAAAAATGAGGAAATCTTTTCTGGTCTGGGTTTTGCTTAACTGCGCCATCTGAAGTTTCCATATAACAAACACAATAAACGGATTTTTTAAAACCCAACGTCCCTTGGATGGGAATTTTACCGACCATGTGTTTGCAAAACTACCTAGTCGGCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGTCGGGCATGGTGGCGCGCGCCTCCCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGTCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATTACCTAGTTGTCCCATCCGGTCCCTAGGGAACAGCCTCCGCTTTCTCTTTTCTCTGTGGTTCAAGTGTTAAGACGGCCAGCCCAACCCGCTAGCCGTGCGCCATCACCCGGGCACCGATCAAGTTCCAACCCGAGTGGATCGAGTTCCAACCTGCGGGCCATGCGCCCTCACCCGGGCATCGATCCGGTCTCAACCTGCGGGCCACGCACTCTCACCCGGGGATTGAGCAGGTCCCAACCCCAGGGCCTCACGCCCTCACCCCAGCACTGAGCAGGTCCCAACCCGCGGGCCTCAAGCCCTCAGCCGGGGACCGAGCAGGTCCCAACCAGCCAGCTACGCGCCCTCAGCCCTGCACCGGGCAGGTTCCAACCCGCGGGCCTCTCGTCCTCACTCCATCACGGAACAGGTCCAAATCCACAGGCCGTGCGCCCTTATCCGGGCACCAGTCGGGTCTCAACCTGCGGGCCACGCGCCCTCACCCAGGCGCTGATCAGATTCCAACCCGCGGGCCGCGCGCGCCCTTACCCAGGCAGCCGAGAAGGTCGCAGGCAGCGGCAGCGCGCAGGATGCGGACCGAGGCCGGCGGGGACGTCGCGGGGGACCCGGGGCCCGCGGGCCGGCGGCCGGGCAGCAGCTGCAGAAGGCCCAGCGCCAAGCGGAGCCCGCCGCTGCCCAGGCAGAGCGCGTGGAAGGCCCGCGGCTGGAAGCTCAGCACGAGCTGCGTGGCTGCGTCCCGCGTGGGGAGGCCATGGGCTGTGTTCGCGGACGCGGCTCGGGTGTGCCAGGACCCCGCCGGCCTGCCTGGGTCATGTGCTGGGCGGGCTGGGGGCGGCATCATGTGCCCTGGGCCTCTCCCCCACCCCAACCCCCAGCGCCTGCAGTAGAGCCAGGCTCGGTGGGGGCCGAGAGCACTGGGCTAACGCCACGAGGCCTCACGAGGTGATGCTTGGGCGGGCGGAGGAGGAGGACAGAGAGAGGGAGGGCTGAGAGGAGAGGAAGAGGGAGGAGGAGGAGGGAAGTGGAAGGAGAAGCAGAAAGGTTGGGAAGGTTACCTTTCTCCCCATTCACCAAGCCTTCCTGGTGGTTTCTCTGCCACCTAGAGCGCCAAACCTGCCATCTTTACTGGTCTTCTAGAGAAACAGGCCTCGTGGACTAGATCTTTCCTATTTGGGACTCTGACATCCTGATTTTGATGCCTTTAAGGCGCCAGAACATGTTCATAAACTGTGACTGATCCCTGTAACTGCTTTTTTCCTAAGTAGAGATGGTTGTCCAATTAGTGCTTTTTTTTATGGCCTCTCTCATTCATGGATATAATCCCACAGAGGCAGGATTTTCGTTTACAATTAATGAATGAAACAAACAGATCAATGTTAAAGAAAGAGCAGTAGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCAGATCGCTTGAGCTCAAGAGTTGGAGACCAGCGTGGGCAACATGGCGAAACCCCACCTCTATTAAAAATACAAACATTAGCCCGGTGTGGTGGCCCAGGCCTGTGATCCAAGCTACTCGGCAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGTTTGCAGTGAGCCAAGATAGTGCCACTGCACTCCAGCCTGAGCGATAGAGCCAGACCTTGTATCAAAAAACGAAACAAAACAAAAATTAGCTGGATGTGGTGGGGCGTGCTTGTAGCCCTAGCTTCTGGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCGGCAAGTGGAGGTTGCAGTGAGCAGAGATTACACCACTGCACTCCAGCCTGAGCAATGGAGTGAGACCCTATCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGAATTAAGTTTAAAATTTAAAAACATTAAAAAAATAAAGGGAAAAGTACTCAGCATAAGTACACACAGACACATTTTGCACCTTAACTTTCAGTTCTATTTATTTGGATTTTTCTTAACTGCGTTAATTTTTCTATGTTTTCTCATACATTGAAAATCTTGCTTTATTCTATACATGTAAGTTTCCAAGTAATATTGTGTTAATGATTACAGTAAGCATACTAAGATTTTTTTTTTTAAGTTCTTCAAGGCTGAAAATAGAAGTGCTCCTTCTAGATTATGGCCTTTATTTTAAAAAAAGAAAAGAAAAAAAAATCCAGCTCCATCATATTTATCATCTTCAACAAACCTCATTGGCTCTTTGTGACCACACAAGAGACACCCTTCCTCCTCTCTCCTGGTAAAATGGGCCCCTCTCTGGGTTTTTTTCAAGCAACCAAGGTGCAGGTGTCCCCATTGTGTTCATGGACTTTCCTCACTTGTTCTCCCCACCAGCTTTGCGGTTTTAAGGAAGGCATGATCTGTGCCGTCTTCCTCTAGGGATAGCAGGACTGGCCTTCCCTTGGGACCCCACAGAAGGCAGGCGGGAGGCTCCACTGCCAGACAGGAAGCGGAGCCTTATTTAACAACAATGAGGTGCAAACTCCACCACTTCAAAAGAGTCCAGATCTGGCACGTCTATAAACGCAGCCTGTTCACTCCACAGCTGCCTTCCTAGAAGTCAGAACAGACTGACATCTTCAGAAAGCTTAACAGCTCTGCTGGATTACACACTCCATTGTAAAAACAGTCAGAAGCACCATAGAACTACTCCCCAAGCATTAATGTTTAAAAGCTTGAATTCTAATATCTAATTTGGACAGTGGCTCTCTTTCCTTCTGCNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 329,639 |
Regarding the variant found on chromosome X at position 10198076 in gene CLCN4 (chloride voltage-gated channel 4): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
TTAACCTTTTGAGCAGCTGTCAGACTGTTTTCCAAAGTAGCTGTACCATTTTACATTCCCACCAGCAGTGTATGAGACTTCCAATTTGTCCACCTTCCTGTCAGCACTTGTTATTATCTGTTTTTGATTATAGCCATCCTAGTGGTTATGAAGTGGCATCTCATTGTGCTTTCAGTCATCTTCCATTGCATTTTATGACCACATTATAGAGGATGTTCTGGGCCTTCTATAAAGAGAATGCCCTAGGCACAGGAGATAATAGTGGTGAACCACAGACCTATAGCATTTAGAGCTTCAGATCTTTATTAAAATCTTAGTTCAGGAAAGAGTTAACTTCTAACCCATTTCAGTGGTTACCACCATGACTATGAGTTATTAAAGGATCAGAAAGCCACGTGAGGAGGAACCAGGTTGTCAAGCTTCACATTAGGGGTAATGTGAGGATCTCTCAAGCTAGAACTAATCTTTCAAGGTATATGTAATCTATTTATACATCTCCTCCCTTCCCCACTTTTTTTTTTTTTTTTTGCCTGACTGACTTACCACAGCTGAAGACATTTGGAATGCACTTTGCCATTTTTGCTAAACCTCTTTCTCAGTGGAATTGAAAATTAATTCCTTCAAATCTCAGAAGGAGACAGGGATCTTGAAATCTCACATGTTCTCAGTGCTCTCCATTACTTCCAAAAAGAAATTCTCTACTTGGGTTGATGGGAGCGGGCAGACAGAATTGGCTGTGCGCCATATTTTTATTCTTCTCTCCTACTTGCAATGTGTGTTTTGGGGAAATACAGCCATCCATCTTTTCAGCTGTTTTTAAGATTTATACTTTGATTCGAAGAATTACCTTTAGTAAGAGTGAGAGTTATTTTTAGCCTCCAAAAAAGTACATATTTAAGTGGGTGAAAGGTATTTCTTAGTCCGATTTCTCACCGCATAGGGTGTGAATATATGTGCTTGTAAAGGCCAGAGCAGTCTCCTGGAACGTGTTTTTGCATTTAATAGGCACACATGTGGCTGTCCATGGCCTGACTTGTAGGTGACCTCTCTTTTCTGCCCCCTTTACTTAAGTAATCCAGATGGTGGCAAGAAGCTGAGGTCTAGAGAGTGTGGTCTGTACCCAGCAGACCAGGCCTTTCACGCATAGGACCCCAGACTGTGTTTTTGGTTCAGAAAACCTTCTCCATACATCAGATAATTTGGAATAAATGGTTCAATGAATTATTCTGAAAGTGATCACGTTTTTCTTCTCTGATAGTGCCTCTCAAATGTTAGTGCGCATAGAACCTCCTGGAGGGCTTGTTAAAACATATTGACCTGGGCCCCAGCCGGGAGTGTCTGGTGTCTGGTTCAGCAGTTCTCGGGTGAGGCCTGAGAGTCTGCATGTCTCATAAGCCACTGATGTGGCTGGACCATGGACCCCACCCTGAGCAGCAGTATTCTAAAATACAGGCCCGACCCGTATTCATTGGCAGTGCGGGTGCTTGCTGTGCTTGGGCGTGGCCTTAATGAAAGCTAAGAGAGACCAAGCCACCACAGACAAGACAAAACTAATCTGCCAGGGTCTCGGAGGCAGGATTTTCTGCATCACACCTTTGATTAACTCTATGCAAGTGGTGATTAAAACCAAGCATCATCCACGGTTTCCATTACTGCTGAGCCTTCCCTGTGTAGAAGGCGCGTGTAAACAGCTCCCAGAGAAACACCCGCTGCTCTGTTTGTGTGTACTGACTGTAGCAATAGCAACAGCTGATAAACCTACGCTGGCCTTTTGGTTTATACAGGACTGGGACCAAACCTGCCCAATCCCGTCAAAGCTTTTGTTGTCAAGACAGATGGGGAGGGGTTGAGTCTGTTGCTCAGGTCAGCTGTGGCTAATGTTTCCTTTTGTGTTTTGTGTCTGTTGTCTAGGGTGCCAGTGCTTACATTCTGAATTACTTAATGTACATCCTATGGGCGCTGCTGTTTGCATTTTTGGCTGTCTCCCTGGTGCGTGTATTTGCACCATATGCCTGTGGCTCTGGCATACCAGAGGTGAGTTCTGGCTGATTTTTTTGGTACCAATAATAAGAATAGCAAATTCTTCTGTAGCACTGTCATGCCAAGCACAGTTCCAAGCGTTTTACTTCTACTAACTCATTAAGTTTCTCAATAAGACTATGACGTAGGTACTATTATTCTGCATTTGATAGTTGACGAAACTAAAGCACAGAGAGGTTAAGTGACTTGCCCCAGGTAACCAAGCTGGTAAGCTGTGAGTTGAACCCAGTGTTCTGACTTCAGGATTTACACACTGTCTTCAAGATTTCTGTGCTATTGCTTCTCAGATGATAAAAGCCTTGTCTTTGTAAACCAGGCATAACTCTTAAAGCCTGTGGAATCAGAGTTCATTAACCACACACATAAACACGCTGTAATAACTCATCAGTGCATCTGTGATGTAATGTGAGAGACGATAGTGGAGGTTTGTTGCTGTGAAAGTTCACTGATGATGAAATCTCTCTTGCCATGTTTTGCTCTTCTGGTGGCAAGCTAATAGCAATCTTTTAAAAACCTGAATTCTGCCTTTAATACATGTACTGTGAACGTACCCCCGTGAATTTCGAGTTCTTATAAATAGTTTTCAGCACTTTCATGTAACCGAAGCATGAGGGAAGTGACCTCACCGATTAAGAGGAGTGCCTGAGACCAAACTTGAAACCTATGAGGACCTACTGGGCAGAATCATGATAATTGAGCTGATTCCCGAAAAGCCCAGATGGTGGAAATTTTAGCCAGAAGTAATTTTAAAAGTTCTGGTATTATCACTGTAATCCATGCAGTTCAGTTCTCCTTTGGGTTGATGCCTTAGCGATGCACACAGGCAGTGGGCTAGAGAGTTTGAAGATGTAGTTGTGGGCTGAGTATGGCAGTAAATCCACACCCTTTGGGAGGACCCTGCAGCCCTGATGGTGGTCCAGGCAGTTTGCAGAAAGGGCTGAAGTCATGAAAAGACAATCAGAGGCAAAATTCAACATGGTCTTGTTTCAGGAAAGATAGAAAAAAGAAGTCTTAATATGTCATGCTGAATTTTTGATGGTTGATGTTAACATATTGCTTCAGGAACCTGAAAAATAAGCTGTATTACCAACCTGTTTTCTCAGCGCAGCCAGTTCTGCTATAATGCAACATACGCATTCCTAAAAATCACCATGCCATGCAAAATCACACAACAGAAACCACAGGGCTTTATGGGGAACATGAATTAGGGGCACAATACACAAAACTTCATCACTGACACATATGACAAAAAGAGGAACCTAGTAAAAACAGGAGCACAGCTGTACACATTAAGTGGCTAAGAAATATGTAAATACCACAATAAATATGTCACTTCCTGCAAAGAACTTGAAGTTTGCTTGTGGAAGTGGGTGTCGCAAGGGCTGCAACTTACGCGTTGCTGTGAAGGGCATAAGGAAGGTTATCTGAAGTTGTAGGGGAAGTTGAGACAGCAGGCGTAGATGGGTGTGGCACCCTGGCATATGTGTGAACCGGTAGATGTTTGACTCGTGTATTTTGTGTTTTCCTACATGACTGGGTGCAATTTTCTGCATTTACCTGGTATTTCTCCTGGAGGAAATGCGCATAAATAGACATAAAATTTGAGTTATGCTCAAATTCCTCCCTAACATGAGTGGCATTGGAACAAATTTGCATTTTCTTTTTTTCTTTTTCCTTTTCTTTTTCTTTCTTTCTTTTTTTTCTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTGCAACCTCCGTTTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCCCCCAAGTAGCTGGGGTTGCGGATGTGTACCACCATGCCTGGCTAATTTTTTTTTTGGTTTTATTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCTAGCCTCATGTGATCCATCCGCCTCGGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCGCCACGCCTGGCCTTCTTGTTTTTTTATTGTTTTATATAGAGACGAGGTCTCACTCTATTGCCCGGGCTGGTCTCAAATTCCTGGG
|
TTAACCTTTTGAGCAGCTGTCAGACTGTTTTCCAAAGTAGCTGTACCATTTTACATTCCCACCAGCAGTGTATGAGACTTCCAATTTGTCCACCTTCCTGTCAGCACTTGTTATTATCTGTTTTTGATTATAGCCATCCTAGTGGTTATGAAGTGGCATCTCATTGTGCTTTCAGTCATCTTCCATTGCATTTTATGACCACATTATAGAGGATGTTCTGGGCCTTCTATAAAGAGAATGCCCTAGGCACAGGAGATAATAGTGGTGAACCACAGACCTATAGCATTTAGAGCTTCAGATCTTTATTAAAATCTTAGTTCAGGAAAGAGTTAACTTCTAACCCATTTCAGTGGTTACCACCATGACTATGAGTTATTAAAGGATCAGAAAGCCACGTGAGGAGGAACCAGGTTGTCAAGCTTCACATTAGGGGTAATGTGAGGATCTCTCAAGCTAGAACTAATCTTTCAAGGTATATGTAATCTATTTATACATCTCCTCCCTTCCCCACTTTTTTTTTTTTTTTTTGCCTGACTGACTTACCACAGCTGAAGACATTTGGAATGCACTTTGCCATTTTTGCTAAACCTCTTTCTCAGTGGAATTGAAAATTAATTCCTTCAAATCTCAGAAGGAGACAGGGATCTTGAAATCTCACATGTTCTCAGTGCTCTCCATTACTTCCAAAAAGAAATTCTCTACTTGGGTTGATGGGAGCGGGCAGACAGAATTGGCTGTGCGCCATATTTTTATTCTTCTCTCCTACTTGCAATGTGTGTTTTGGGGAAATACAGCCATCCATCTTTTCAGCTGTTTTTAAGATTTATACTTTGATTCGAAGAATTACCTTTAGTAAGAGTGAGAGTTATTTTTAGCCTCCAAAAAAGTACATATTTAAGTGGGTGAAAGGTATTTCTTAGTCCGATTTCTCACCGCATAGGGTGTGAATATATGTGCTTGTAAAGGCCAGAGCAGTCTCCTGGAACGTGTTTTTGCATTTAATAGGCACACATGTGGCTGTCCATGGCCTGACTTGTAGGTGACCTCTCTTTTCTGCCCCCTTTACTTAAGTAATCCAGATGGTGGCAAGAAGCTGAGGTCTAGAGAGTGTGGTCTGTACCCAGCAGACCAGGCCTTTCACGCATAGGACCCCAGACTGTGTTTTTGGTTCAGAAAACCTTCTCCATACATCAGATAATTTGGAATAAATGGTTCAATGAATTATTCTGAAAGTGATCACGTTTTTCTTCTCTGATAGTGCCTCTCAAATGTTAGTGCGCATAGAACCTCCTGGAGGGCTTGTTAAAACATATTGACCTGGGCCCCAGCCGGGAGTGTCTGGTGTCTGGTTCAGCAGTTCTCGGGTGAGGCCTGAGAGTCTGCATGTCTCATAAGCCACTGATGTGGCTGGACCATGGACCCCACCCTGAGCAGCAGTATTCTAAAATACAGGCCCGACCCGTATTCATTGGCAGTGCGGGTGCTTGCTGTGCTTGGGCGTGGCCTTAATGAAAGCTAAGAGAGACCAAGCCACCACAGACAAGACAAAACTAATCTGCCAGGGTCTCGGAGGCAGGATTTTCTGCATCACACCTTTGATTAACTCTATGCAAGTGGTGATTAAAACCAAGCATCATCCACGGTTTCCATTACTGCTGAGCCTTCCCTGTGTAGAAGGCGCGTGTAAACAGCTCCCAGAGAAACACCCGCTGCTCTGTTTGTGTGTACTGACTGTAGCAATAGCAACAGCTGATAAACCTACGCTGGCCTTTTGGTTTATACAGGACTGGGACCAAACCTGCCCAATCCCGTCAAAGCTTTTGTTGTCAAGACAGATGGGGAGGGGTTGAGTCTGTTGCTCAGGTCAGCTGTGGCTAATGTTTCCTTTTGTGTTTTGTGTCTGTTGTCTAGGGTGCCAGTGCTTACATTCTGAATTACTTAATGTACATCCTATGGGCGCTGCTGTTTGCATTTTTGGCTGTCTCCCTGGTGCGTGTATTTGCACCATATGCCTGTGGCTCTGGCATACCAGAGGTGAGTTCTGGCTGATTTTTTTTGGTACCAATAATAAGAATAGCAAATTCTTCTGTAGCACTGTCATGCCAAGCACAGTTCCAAGCGTTTTACTTCTACTAACTCATTAAGTTTCTCAATAAGACTATGACGTAGGTACTATTATTCTGCATTTGATAGTTGACGAAACTAAAGCACAGAGAGGTTAAGTGACTTGCCCCAGGTAACCAAGCTGGTAAGCTGTGAGTTGAACCCAGTGTTCTGACTTCAGGATTTACACACTGTCTTCAAGATTTCTGTGCTATTGCTTCTCAGATGATAAAAGCCTTGTCTTTGTAAACCAGGCATAACTCTTAAAGCCTGTGGAATCAGAGTTCATTAACCACACACATAAACACGCTGTAATAACTCATCAGTGCATCTGTGATGTAATGTGAGAGACGATAGTGGAGGTTTGTTGCTGTGAAAGTTCACTGATGATGAAATCTCTCTTGCCATGTTTTGCTCTTCTGGTGGCAAGCTAATAGCAATCTTTTAAAAACCTGAATTCTGCCTTTAATACATGTACTGTGAACGTACCCCCGTGAATTTCGAGTTCTTATAAATAGTTTTCAGCACTTTCATGTAACCGAAGCATGAGGGAAGTGACCTCACCGATTAAGAGGAGTGCCTGAGACCAAACTTGAAACCTATGAGGACCTACTGGGCAGAATCATGATAATTGAGCTGATTCCCGAAAAGCCCAGATGGTGGAAATTTTAGCCAGAAGTAATTTTAAAAGTTCTGGTATTATCACTGTAATCCATGCAGTTCAGTTCTCCTTTGGGTTGATGCCTTAGCGATGCACACAGGCAGTGGGCTAGAGAGTTTGAAGATGTAGTTGTGGGCTGAGTATGGCAGTAAATCCACACCCTTTGGGAGGACCCTGCAGCCCTGATGGTGGTCCAGGCAGTTTGCAGAAAGGGCTGAAGTCATGAAAAGACAATCAGAGGCAAAATTCAACATGGTCTTGTTTCAGGAAAGATAGAAAAAAGAAGTCTTAATATGTCATGCTGAATTTTTGATGGTTGATGTTAACATATTGCTTCAGGAACCTGAAAAATAAGCTGTATTACCAACCTGTTTTCTCAGCGCAGCCAGTTCTGCTATAATGCAACATACGCATTCCTAAAAATCACCATGCCATGCAAAATCACACAACAGAAACCACAGGGCTTTATGGGGAACATGAATTAGGGGCACAATACACAAAACTTCATCACTGACACATATGACAAAAAGAGGAACCTAGTAAAAACAGGAGCACAGCTGTACACATTAAGTGGCTAAGAAATATGTAAATACCACAATAAATATGTCACTTCCTGCAAAGAACTTGAAGTTTGCTTGTGGAAGTGGGTGTCGCAAGGGCTGCAACTTACGCGTTGCTGTGAAGGGCATAAGGAAGGTTATCTGAAGTTGTAGGGGAAGTTGAGACAGCAGGCGTAGATGGGTGTGGCACCCTGGCATATGTGTGAACCGGTAGATGTTTGACTCGTGTATTTTGTGTTTTCCTACATGACTGGGTGCAATTTTCTGCATTTACCTGGTATTTCTCCTGGAGGAAATGCGCATAAATAGACATAAAATTTGAGTTATGCTCAAATTCCTCCCTAACATGAGTGGCATTGGAACAAATTTGCATTTTCTTTTTTTCTTTTTCCTTTTCTTTTTCTTTCTTTCTTTTTTTTCTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTGCAACCTCCGTTTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCCCCCAAGTAGCTGGGGTTGCGGATGTGTACCACCATGCCTGGCTAATTTTTTTTTTGGTTTTATTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCTAGCCTCATGTGATCCATCCGCCTCGGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCGCCACGCCTGGCCTTCTTGTTTTTTTATTGTTTTATATAGAGACGAGGTCTCACTCTATTGCCCGGGCTGGTCTCAAATTCCTGG
|
benign
| 329,666 |
Is the variant located on chromosome X at position 10212457, gene CLCN4 (chloride voltage-gated channel 4), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
AGCAGAACATTATCCACCTCCCAGAGCCCCCTTTTGTGTTCCATTACTATTGCTTTCTGTGTGGCATTTCTATGAATTGTCTTTTAATTTTATTTATTTTTATTAAAAATATAAAATAGAGACCAAGCTCCCTATGTTTCCCAGGCTGGTCTTAAACCCCTGAGCTCCAGTGATCCTCCTGCTTTGGCCTCCCAAAGTGCTAGGATTACACACATGCGCCATTGTGCCCTGCCTGAATTGTCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCATGGGTCACTGCAGCCTCGACCTTCTGGGCTCAAGTGATCCTCCTGCCTCAGCCCACTGGGACTACAGACACGTGCCACCATGCCCAGCTGATTTTTGTATTTTTTGTAGAGATGGGGTCTTGCCATGTTGACCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGCGTTAGAATTACAGGCGTGAGCCATCACACCCAGCCTGAATTGTCTTTTTTTTTTTTTTTTTTAAATTTAATGGTCGGGCATGGTGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATAGTGAAACCCCATTTCTTCTAAAAATACAAAAATTAGCTGGGCGTGGTGACACACGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCATAAGAATCACTTGAACGCAGGAGGCAGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACACGGGCCTGGGCGACAGAGCGAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATTCTAAGAAGTTGTTTACTTGAGTGTGTCATAGTGGTCAAATACAAACCTGAATTTGGGCCTTAAGAACAAGGATGAGTAGGCCTTATTAAACAGCTGGCTGTCTCTGATCTGTCATCTCCTAGCAAAGGGATTTGTTTTCATGTCTCAGGAAGATGCTGGTAACATTTTATGATGCTTGCTGAGAAAAGTCTCCTTTGATGTTACAGGGATATAAATGATGTAGAATAAGGGGAAGCTCAGAAAGGAATGATTTCCTAAGGAGTATTCTGACTCTAGAAATCACACCCAAGGATCCAAACTTCACTTGAATTAGGTTAAAGTTCTGCTTCCATCCTCAGATGGGTAACCACCTGGGGCTGGCTGGCATCATTGCAGCTGCTGCCCATGGTCAGCGGTCACGTGTCATTTCAGCGAACACAGGGAGTCAGGCTTGTTCTATAGTACATGTGTGGTCATTAGATAAACTAAAATGTATCTTCATCCAGCAGGGTAGAGAACACGCTGGTACCAAGATCTCTTAGTTTACATTCTATTTCTTTGCTGCCCCTATCCTGGCTTGAAAATATTCAGAATACTTATTAGAAAATGTACTTCATTAGGAAGAGGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGCTACCACCTACTAGAGAGGGCAGGGAGCCATTGAAGTGCTTTCTGGAAGATCCAGGGTGGCTGCAATGATGGACTTAGCTTCTTTATTTTACCTGGGAGCAGTCGCAGGCCCTTCTTTTCCATTTTCATGCTGTGGCTTGACATTTAATTTTAAAAGCCATTCTGAATGACATGGCAAGGGGCGAGAGAAAGTGGTGTCTCAACTGACAGATGCTCACTTTGAATGTTATTTGCAGTGGGGCTTATCATTCTTTAATCCACAGCAGGCAAACCCAGCCAGCTTTTGAAGGAGAGGGAATCAAAGTATAAAATTGCGTCCTCTCTAAGTTGCAGTAGATATGACTGACTAGGCAGGTCAAATTATTTGTCCCACCTTTCCCCAGCTGACCTATTTTGCAGAGTTGCACCTCCTCTGAAGACTGAAGCTAAATGCAAGCCCGTCGAGGGGGAATGTGTTTCTTGGGGGTCGTGAAGCGGGGACTTGGTCTTTTTCCCTCATGTTGCTTTTCTCTGTGTCTCCTCAAGATCCCGTCGGGCCTCTTCATCCCCAGCATGGCTGTGGGCGCGATAGCGGGCAGGATGGTGGGAATTGGCGTGGAGCAGCTGGCCTACCATCACCATGACTGGATCATCTTCAGGAACTGGTGCAGACCCGGTGCAGACTGTGTCACGCCAGGGCTGTACGCAATGGTGGGAGCTGCGGCCTGCCTCGGTACGACCATGGGTGGGGCAGGGAGGGGGACCGGGGAACTAATCTGGCTTAGAGGACTGCCAAGAAGGAAGACATGGACTTGAACATTTTCTTTACTCAGGATAGGCTGGGTTGTGTGGCTATAACAAGTAAACCCCTAAATCACAATGGCTTAACGCACCAAGGCTATGTCTCGCTCACTATGCAGACACACACACACACACACAAACAGATGCCCTCAACTTATGATGGGGTTAACATCCTGATAAATGCATCATAAACTGAAAATATTATAAGTTGAAAATGCATTGAATACACCTAACCTACCAAACGTTGTAGCTTAGCTTAGCCTACCTTAAACATGTTCAGAACACTTACATTTGCCTACATCTGGGCACAATCATCTAACACAAAGCCTATTTTATAATGAAGTTGAATATCTCTTGTAATTTATTGAATATTGTACTGGAAGTGAGAAACAGATGGTTGCCTGTGTACTTGAGGCATGGTTTCTACTGAATGCCTGTTGCTTTTGTACCACGGAAAGTGGCAAAATTGTAAGTTAAACCATCGTAAGTCAGGGACTGTCTGTAAATAAAAATCTTGGTTTAGCAGAAGGCGCTTCTCCACCTAATCATTCAGGGGCACAAAGGTGGGTCTGTCCCCTGTCTATAGTCCTTAAGAATTTCTGTGATATTCTGTTTATGGGGTTCTTGAAGAGCACCATGCTTGCTTAGTCAGAAGCTTGCAGAGCCCATGTAGGATCCACTCACCAAAAAGCTTGTGTGGGCCACGGTGAATAGACAACCCGGGATCCGTCATTGGAGCAGAGGCCCCAGTGAGATGCAACTTCAGGCTCCCCAACGCAAAGCCACATTTGACAGGGCCTGGCCTGGGTTCCAGAGGCCCAGTGTAGGAAGCATGTAGGAGAGTCTGCTTGGAACAGGTGTGAGGGGAATTTACAGCCTGTCTGTCATTTTCCCCAAATCATGCTTCCGTGAGCTGCCCGGCTTGCACTTTGGAATCTTACTCCTCCCCTCTGTTGCAGGTGGAGTTACCAGGATGACGGTGTCATTGGTGGTCATCATGTTTGAATTAACCGGGGGTCTGGAGTACATCGTGCCCCTGATGGCGGCGGCTGTGACCAGCAAGTGGGTAGCTGATGCATTTGGGAAAGAAGGCATCTACGAGGCCCACATCCACTTAAATGGGTACCCTTTCCTTGACGTGAAGGACGAGTTTACTCACCGCACACTGGCCACCGACGTCATGCGGCCCCGGCGGGGAGAGCCGCCACTGTCGGTGCTCACCCAGGACAGCATGACTGTCGAGGACGTGGAGACGCTCATCAAGGAGACCGACTACAACGGCTTCCCCGTGGTGGTCTCCAGAGACTCCGAGCGCCTCATTGGATTTGCCCAGAGGAGGGAACTGATTCTCGCAATAAGTGAGTAAAGAGAGGGAAGCTCACATTTTACCAAGAGCCGAATGGCATCCTTTGTACCCCTAACATTATCCAAGATTTTTGAGGTGATGTGCATTAAGCCAGGGGCTCTCAAGCTTTCACATGTCTCTGGGTCACCCAGGGGTCTGGCTCAAAAGCAGATTCTGATTGAGCAGGTCTTGGGTGGGATCCGATACTACATCCCTCACAAGTTCCCCATTAACGCCGATATTGCTGGTCCCCACGTCACACTGTAAGGAAAAAGGCTTTAAACCCAAGTCTTGGGTAGACATTCTTGGTTGCAAAGTGACTGCATGTTTGCAAGCAGCCCCCTGGCCCTGCTCCGCTGCTGCCTTTCAGCAATTGTTGGCTAAAGCTGAGAAGGAAGAGAGGCGACAGCCTGGAGTGGCCCGGGCTGAGCTGTCTCA
|
AGCAGAACATTATCCACCTCCCAGAGCCCCCTTTTGTGTTCCATTACTATTGCTTTCTGTGTGGCATTTCTATGAATTGTCTTTTAATTTTATTTATTTTTATTAAAAATATAAAATAGAGACCAAGCTCCCTATGTTTCCCAGGCTGGTCTTAAACCCCTGAGCTCCAGTGATCCTCCTGCTTTGGCCTCCCAAAGTGCTAGGATTACACACATGCGCCATTGTGCCCTGCCTGAATTGTCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCATGGGTCACTGCAGCCTCGACCTTCTGGGCTCAAGTGATCCTCCTGCCTCAGCCCACTGGGACTACAGACACGTGCCACCATGCCCAGCTGATTTTTGTATTTTTTGTAGAGATGGGGTCTTGCCATGTTGACCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGCGTTAGAATTACAGGCGTGAGCCATCACACCCAGCCTGAATTGTCTTTTTTTTTTTTTTTTTTAAATTTAATGGTCGGGCATGGTGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATAGTGAAACCCCATTTCTTCTAAAAATACAAAAATTAGCTGGGCGTGGTGACACACGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCATAAGAATCACTTGAACGCAGGAGGCAGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACACGGGCCTGGGCGACAGAGCGAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATTCTAAGAAGTTGTTTACTTGAGTGTGTCATAGTGGTCAAATACAAACCTGAATTTGGGCCTTAAGAACAAGGATGAGTAGGCCTTATTAAACAGCTGGCTGTCTCTGATCTGTCATCTCCTAGCAAAGGGATTTGTTTTCATGTCTCAGGAAGATGCTGGTAACATTTTATGATGCTTGCTGAGAAAAGTCTCCTTTGATGTTACAGGGATATAAATGATGTAGAATAAGGGGAAGCTCAGAAAGGAATGATTTCCTAAGGAGTATTCTGACTCTAGAAATCACACCCAAGGATCCAAACTTCACTTGAATTAGGTTAAAGTTCTGCTTCCATCCTCAGATGGGTAACCACCTGGGGCTGGCTGGCATCATTGCAGCTGCTGCCCATGGTCAGCGGTCACGTGTCATTTCAGCGAACACAGGGAGTCAGGCTTGTTCTATAGTACATGTGTGGTCATTAGATAAACTAAAATGTATCTTCATCCAGCAGGGTAGAGAACACGCTGGTACCAAGATCTCTTAGTTTACATTCTATTTCTTTGCTGCCCCTATCCTGGCTTGAAAATATTCAGAATACTTATTAGAAAATGTACTTCATTAGGAAGAGGGAATTGCCTCCCTCGTCTCTCTCTGACAGGTATTCAGCTACCACCTACTAGAGAGGGCAGGGAGCCATTGAAGTGCTTTCTGGAAGATCCAGGGTGGCTGCAATGATGGACTTAGCTTCTTTATTTTACCTGGGAGCAGTCGCAGGCCCTTCTTTTCCATTTTCATGCTGTGGCTTGACATTTAATTTTAAAAGCCATTCTGAATGACATGGCAAGGGGCGAGAGAAAGTGGTGTCTCAACTGACAGATGCTCACTTTGAATGTTATTTGCAGTGGGGCTTATCATTCTTTAATCCACAGCAGGCAAACCCAGCCAGCTTTTGAAGGAGAGGGAATCAAAGTATAAAATTGCGTCCTCTCTAAGTTGCAGTAGATATGACTGACTAGGCAGGTCAAATTATTTGTCCCACCTTTCCCCAGCTGACCTATTTTGCAGAGTTGCACCTCCTCTGAAGACTGAAGCTAAATGCAAGCCCGTCGAGGGGGAATGTGTTTCTTGGGGGTCGTGAAGCGGGGACTTGGTCTTTTTCCCTCATGTTGCTTTTCTCTGTGTCTCAAGATCCCGTCGGGCCTCTTCATCCCCAGCATGGCTGTGGGCGCGATAGCGGGCAGGATGGTGGGAATTGGCGTGGAGCAGCTGGCCTACCATCACCATGACTGGATCATCTTCAGGAACTGGTGCAGACCCGGTGCAGACTGTGTCACGCCAGGGCTGTACGCAATGGTGGGAGCTGCGGCCTGCCTCGGTACGACCATGGGTGGGGCAGGGAGGGGGACCGGGGAACTAATCTGGCTTAGAGGACTGCCAAGAAGGAAGACATGGACTTGAACATTTTCTTTACTCAGGATAGGCTGGGTTGTGTGGCTATAACAAGTAAACCCCTAAATCACAATGGCTTAACGCACCAAGGCTATGTCTCGCTCACTATGCAGACACACACACACACACACAAACAGATGCCCTCAACTTATGATGGGGTTAACATCCTGATAAATGCATCATAAACTGAAAATATTATAAGTTGAAAATGCATTGAATACACCTAACCTACCAAACGTTGTAGCTTAGCTTAGCCTACCTTAAACATGTTCAGAACACTTACATTTGCCTACATCTGGGCACAATCATCTAACACAAAGCCTATTTTATAATGAAGTTGAATATCTCTTGTAATTTATTGAATATTGTACTGGAAGTGAGAAACAGATGGTTGCCTGTGTACTTGAGGCATGGTTTCTACTGAATGCCTGTTGCTTTTGTACCACGGAAAGTGGCAAAATTGTAAGTTAAACCATCGTAAGTCAGGGACTGTCTGTAAATAAAAATCTTGGTTTAGCAGAAGGCGCTTCTCCACCTAATCATTCAGGGGCACAAAGGTGGGTCTGTCCCCTGTCTATAGTCCTTAAGAATTTCTGTGATATTCTGTTTATGGGGTTCTTGAAGAGCACCATGCTTGCTTAGTCAGAAGCTTGCAGAGCCCATGTAGGATCCACTCACCAAAAAGCTTGTGTGGGCCACGGTGAATAGACAACCCGGGATCCGTCATTGGAGCAGAGGCCCCAGTGAGATGCAACTTCAGGCTCCCCAACGCAAAGCCACATTTGACAGGGCCTGGCCTGGGTTCCAGAGGCCCAGTGTAGGAAGCATGTAGGAGAGTCTGCTTGGAACAGGTGTGAGGGGAATTTACAGCCTGTCTGTCATTTTCCCCAAATCATGCTTCCGTGAGCTGCCCGGCTTGCACTTTGGAATCTTACTCCTCCCCTCTGTTGCAGGTGGAGTTACCAGGATGACGGTGTCATTGGTGGTCATCATGTTTGAATTAACCGGGGGTCTGGAGTACATCGTGCCCCTGATGGCGGCGGCTGTGACCAGCAAGTGGGTAGCTGATGCATTTGGGAAAGAAGGCATCTACGAGGCCCACATCCACTTAAATGGGTACCCTTTCCTTGACGTGAAGGACGAGTTTACTCACCGCACACTGGCCACCGACGTCATGCGGCCCCGGCGGGGAGAGCCGCCACTGTCGGTGCTCACCCAGGACAGCATGACTGTCGAGGACGTGGAGACGCTCATCAAGGAGACCGACTACAACGGCTTCCCCGTGGTGGTCTCCAGAGACTCCGAGCGCCTCATTGGATTTGCCCAGAGGAGGGAACTGATTCTCGCAATAAGTGAGTAAAGAGAGGGAAGCTCACATTTTACCAAGAGCCGAATGGCATCCTTTGTACCCCTAACATTATCCAAGATTTTTGAGGTGATGTGCATTAAGCCAGGGGCTCTCAAGCTTTCACATGTCTCTGGGTCACCCAGGGGTCTGGCTCAAAAGCAGATTCTGATTGAGCAGGTCTTGGGTGGGATCCGATACTACATCCCTCACAAGTTCCCCATTAACGCCGATATTGCTGGTCCCCACGTCACACTGTAAGGAAAAAGGCTTTAAACCCAAGTCTTGGGTAGACATTCTTGGTTGCAAAGTGACTGCATGTTTGCAAGCAGCCCCCTGGCCCTGCTCCGCTGCTGCCTTTCAGCAATTGTTGGCTAAAGCTGAGAAGGAAGAGAGGCGACAGCCTGGAGTGGCCCGGGCTGAGCTGTCTCANNN
|
benign
| 329,688 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 10449573, gene MID1: what disease(s) if pathogenic?
|
pathogenic; ['X-linked_Opitz_G/BBB_syndrome']
|
TATTGTAATAAAAAGAAAAACCTATAAGGTTTCCAGAGAAAGATTGTTTTTTTTCCATTGAGGCGTCCATCTTTTAGATGTGAAATTGTCTTAGGTATCTATCAAAATATTCATCTGGGTATAAATAATATAGTAAATATATAGAATCTATCTGTTAAGAAAAAGGAGAGTGTCTGCTAGGGAAGAGGATGGAAGGACCCAGGAAGCTGGCTTGGCCTCCCTTGAAATCCAGATTTGCAATCACATGACCTTTGGCCACGTGATGCTGAAACAATGAGTTCATTGACTTATTTCAGGGAGGCAGTTGGTTGATTTGGTTAAAAACAAAATAACTAAAAACAATGTCTAAATCCACTAGTCTGCTCAGTCAAAATGGCTGACCCAGTATCCCAGGTAAATATTTTAGCAATTGAAACCATTTATAGAGGTCATGCCCTTCATCAAACTAGAACCAATGCCAGAGTTCTGGGCCAAGAACTGCTCAAGAAAGCCTTAATTCATGGACCATTCCAACGCATCAGATTGGCATGCAAAGAATCCCAGCTGACATTTTATAAGCAGGTTCCTGAATAACGAGTTTGAATTTTTTTTTTTTTTTTTTGGTCTTACAACTCTATTGTAAACTATACTAGACTATAGAGGGACTTCTACATCTTTCAAGATGTGTTTAATAAAGGTCTGTTTATAATAACTTTTGAGGCATGAATCTAGCAAATAGTACTTTATACAATGTCCCTTGTCATTACCAACTCATAAATATTAAGTGTTTTTCAGTGACTTATGTTTGGATGTGGTAGTGCTGATCAGGGCCATGTGCTGATGTCCTGGAGAGCAAAATCAATCCAAAGTGGTGCTGCTATTTGTGACAGAACATGTTTATTTACTCAGCCCCGGAGACAAAAGGAAAATTGATATGGGGGAGCGGGAAATAGGAGAACTATTAAATGTAGTGAAGAAATTTCACAGGTCTAAAGGAACTATTAAAAGGAAGGATAAAGTAGATTCTATACTATAAAACAGAATCCTACCTCTGATAAAAGACAAATCAGCCTGAATTTTTGAATAATCAATAGGATTCAAAATGACTATTTTCAATTGCAATCTCATTCTTAATGTTCTTCCAGAACCCTTAACCCTGAGAGAAGCAGGGCAAAATGTGGCCAAAGGATTCAGAACCTTTCTTTCCAACATTATCCCATCAGCTATGAGAAGGTAAAGATTTAGCCACGGCAAGGTCCGAGGTCCAAAATCAACTCTTTTCATTCTCTGTCTTGCTCTCCATTTTAGTTGATCTGATACAACTTTTTGACATCACAATTAAAACACTTCAAATTAAACCAGAGTAAGAAAGCCTGTTTCCTCCCCTACTAGGTTCAAACACATCCTGTTATGCACCATCGAGGTGAGAAGACCTACCATGGGATCATCATGGGATATCAGGTAAGAAGATGAGTAACATACAAAACTACAAAAGTTTTTGTTTTTTTGTAAGCCCACAGATTGTGATGAAATGAAGGTTGTAAATAGCTGATAAACTTATGGGCCTCTTAATGTGCAAAACCAAGTAATTCCTAAAAGTTGTAATCCTGATTATGTTTCTCTTATAAATAATCTATAGATTTTCCTCTAAATACAAAAAAATTAAAGAAATTATTAAAGCCCGTACTTAATACAAGACACAGTAAAAGGAGAGGAATCTCTTGTTTTGAGCCCTATCTGAGCCGATTTCGGGACACTTCTGGTGAGATTTCATTACACTCATGAAGCCTGTGCTTTCTCAGTCCCCTAAATAGTGGCCTGAACCTTACTGTTCCCCAGAAAGCAGCTCCATGTGGCCAGACGCTCACGGCAGCTGCTCTGTGCAGTCCAAATGGTCTGGGATAGGGAGCCCAGTGATAATCGTCAGACACTTGTTCCACACGGTGAAGGTGGGGCAAACAGGCTGCGCAAATGCGACGTCGAAGGTGTAGAGGTGGATGGAGTTCAAAGCATCATAAAAGGCGATAGAGCCGTTATCATAGTCCAGCAGGATGCCCACGCGCCGGAGGTGGGGGGCAGGCTCAATGGGGATTTCCTTGCTATTGTGTCTCACCACCCAGTTATTGTTGCAGCGGCAGAGCGCCCAGGAAGCAGAGTTCTTCCCAATCCATTCATGCTTCGGGGCTGATTTGTAAGCAAGACCAATGGCATACCTGCGGAAACAAAACAGCAACAACAAAAACAATGAGCCATGTTGCACATGCACGTTAAATCCGTTCTGTGGTCCTCAGGGGTTATAAAAACATGATCATTTGTTGTCCCTGTTCATTTTCTTTAAGTGAAAGCTTGGCAAGAACCCCAACATCTGTGTTCCTCATCTCCTTCCCTCCCAAACATGGAAAGTGGGTGGAAAGTAGTGGGTGGAAAGAAGCGTCGTATTTACCCACATTTCTGTTTTCAGCTCAAACACTACGGAGAATTTGAACTTTGAGTTTTGCTGCTTTTTTTCACTCTTATAAAAATCTACACAATGAATTCGCTAGACCAGTGCTGACCAAAAGAACTTTCTTCAATGACTGAAATGTTCTGCTCTCCTCGATATGGTAACCACAAGCCACATATGGCTACTGGGCACTTTAGCTGCGGCTGGTGAGACTGAGGAACTGAACTTTAAATTTATTTAATTTTCATTAAGTTAAATGATTTAAATAGCTGCCTGTGGCTCATAGCTACCATACTGGACAGCACAACCCTAGACTTCTCCTTTTGACCTTCTTATAATTTTTCATTTAACACCATGTCTGTCATTTTCTGATTCTGAATGCACTTTGCCAAGGGCAAGCACAGAAGATGATTCCCATTTGCAGGGATAAATCCTTTGTCATTACTCAGCCCCAATTTTCTCATGTATATTGAGAAATATACAGTGTTATTTTAAGGAGTAAAGGAGAGAATACATGTTAAGTCCCAGGCACAGGACCTGGCATGTAATATTCAGTAACTGCTATTTATTTTATTATTATTGCCTGATGGCACATATTAACAATAAGTACCAGAATCAGAATTTGAACTCAGGATGACTCAAAACCCACAAACACGAACTACATTCTACAATGCCATCCGTAACCAGAAATTGTGCAGTTCATCACTGCCAAGAGCCTTTCTGATTATACTGGAAAAAAAATTCTGAACGTGTTTGAGCAGACGGATCTTCTGGTTATTCTAAATGTTCTCTTGCTGCTCAAAAAAATCCAAAGAATGCTTTCTACAATGTTCTAAGCATCTTAATCTCTTTTTACCCCTCTGAGTCATGCCTCTGTAATATTCATCGTATTTCAGTTATTAAGATAAACAAAACCCATCACTCTTTATAAAGAGTAAATGACTCACAGTTGAACTTTTAATATGTTATAGCAGAAACCAGTCTAATTGGATATTAACATATGGTACCTTACCCAATGCAGAGAGAAAAATTTCATGGGTCTTTAATAAAATGACATTCTTTAAAAAAAATCACACTGGACTTAAAATACAATCACTTTAAGAGTGGTGTGTTTGTTTAAAAAGAAAATTAACACAACATGCCATCACTAAATCCAAAAGAAGGATGGAATTGATAATCTGCCAAGCCCAGTGTGCAGGCCTGTCTGTCATCAATGTTGCATCCTCTCTTCCCTCCCGTCCATCCTCTCCTGCTTATGAGGAGAATCCAAGTTGCATTTCCCAGAATCCCCTTTCCTGTAGGAGTCTGGGTCAGGCTCTGCTATTGTGATGCCTTTGCACAAGATCCAGAAGTGCTTAGAGGAGGGGAAACACGCTTTCCTGATGGCAGACAGTAGACGTGCGGTTGGTGGAAGCTTCTAGATGAGCGCCTGAGTACACCTGCCTTGTGCTGTGGGCAACTTTGCAGCAGCTACAGCTCATCATGACTCCATGAACTAGAGCAGCAGACTCCCTGACTTCATGCCCCAGCCCTTCCAGGGTCCTGTAAGCTTCTGGCTCCCTTCTGTGGCATGCATCGAGGGTCTCAAATGTCATCTGTTTATTTGATACACTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTCCCACATGTTGTGGGAGG
|
TATTGTAATAAAAAGAAAAACCTATAAGGTTTCCAGAGAAAGATTGTTTTTTTTCCATTGAGGCGTCCATCTTTTAGATGTGAAATTGTCTTAGGTATCTATCAAAATATTCATCTGGGTATAAATAATATAGTAAATATATAGAATCTATCTGTTAAGAAAAAGGAGAGTGTCTGCTAGGGAAGAGGATGGAAGGACCCAGGAAGCTGGCTTGGCCTCCCTTGAAATCCAGATTTGCAATCACATGACCTTTGGCCACGTGATGCTGAAACAATGAGTTCATTGACTTATTTCAGGGAGGCAGTTGGTTGATTTGGTTAAAAACAAAATAACTAAAAACAATGTCTAAATCCACTAGTCTGCTCAGTCAAAATGGCTGACCCAGTATCCCAGGTAAATATTTTAGCAATTGAAACCATTTATAGAGGTCATGCCCTTCATCAAACTAGAACCAATGCCAGAGTTCTGGGCCAAGAACTGCTCAAGAAAGCCTTAATTCATGGACCATTCCAACGCATCAGATTGGCATGCAAAGAATCCCAGCTGACATTTTATAAGCAGGTTCCTGAATAACGAGTTTGAATTTTTTTTTTTTTTTTTTGGTCTTACAACTCTATTGTAAACTATACTAGACTATAGAGGGACTTCTACATCTTTCAAGATGTGTTTAATAAAGGTCTGTTTATAATAACTTTTGAGGCATGAATCTAGCAAATAGTACTTTATACAATGTCCCTTGTCATTACCAACTCATAAATATTAAGTGTTTTTCAGTGACTTATGTTTGGATGTGGTAGTGCTGATCAGGGCCATGTGCTGATGTCCTGGAGAGCAAAATCAATCCAAAGTGGTGCTGCTATTTGTGACAGAACATGTTTATTTACTCAGCCCCGGAGACAAAAGGAAAATTGATATGGGGGAGCGGGAAATAGGAGAACTATTAAATGTAGTGAAGAAATTTCACAGGTCTAAAGGAACTATTAAAAGGAAGGATAAAGTAGATTCTATACTATAAAACAGAATCCTACCTCTGATAAAAGACAAATCAGCCTGAATTTTTGAATAATCAATAGGATTCAAAATGACTATTTTCAATTGCAATCTCATTCTTAATGTTCTTCCAGAACCCTTAACCCTGAGAGAAGCAGGGCAAAATGTGGCCAAAGGATTCAGAACCTTTCTTTCCAACATTATCCCATCAGCTATGAGAAGGTAAAGATTTAGCCACGGCAAGGTCCGAGGTCCAAAATCAACTCTTTTCATTCTCTGTCTTGCTCTCCATTTTAGTTGATCTGATACAACTTTTTGACATCACAATTAAAACACTTCAAATTAAACCAGAGTAAGAAAGCCTGTTTCCTCCCCTACTAGGTTCAAACACATCCTGTTATGCACCATCGAGGTGAGAAGACCTACCATGGGATCATCATGGGATATCAGGTAAGAAGATGAGTAACATACAAAACTACAAAAGTTTTTGTTTTTTTGTAAGCCCACAGATTGTGATGAAATGAAGGTTGTAAATAGCTGATAAACTTATGGGCCTCTTAATGTGCAAAACCAAGTAATTCCTAAAAGTTGTAATCCTGATTATGTTTCTCTTATAAATAATCTATAGATTTTCCTCTAAATACAAAAAAATTAAAGAAATTATTAAAGCCCGTACTTAATACAAGACACAGTAAAAGGAGAGGAATCTCTTGTTTTGAGCCCTATCTGAGCCGATTTCGGGACACTTCTGGTGAGATTTCATTACACTCATGAAGCCTGTGCTTTCTCAGTCCCCTAAATAGTGGCCTGAACCTTACTGTTCCCCAGAAAGCAGCTCCATGTGGCCAGACGCTCACGGCAGCTGCTCTGTGCAGTCCAAATGGTCTGGGATAGGGAGCCCAGTGATAATCGTCAGACACTTGTTCCACACGGTGAAGGTGGGGCAAACAGGCTGCGCAAATGCGACGTCGAAGGTGTAGAGGTGGATGGAGTTCAAAGCATCATAAAAGGCGATAGAGCCGTTATCATAGTCCAGCAGGATGCCCACGCGCCGGAGGTGGGGGGGCAGGCTCAATGGGGATTTCCTTGCTATTGTGTCTCACCACCCAGTTATTGTTGCAGCGGCAGAGCGCCCAGGAAGCAGAGTTCTTCCCAATCCATTCATGCTTCGGGGCTGATTTGTAAGCAAGACCAATGGCATACCTGCGGAAACAAAACAGCAACAACAAAAACAATGAGCCATGTTGCACATGCACGTTAAATCCGTTCTGTGGTCCTCAGGGGTTATAAAAACATGATCATTTGTTGTCCCTGTTCATTTTCTTTAAGTGAAAGCTTGGCAAGAACCCCAACATCTGTGTTCCTCATCTCCTTCCCTCCCAAACATGGAAAGTGGGTGGAAAGTAGTGGGTGGAAAGAAGCGTCGTATTTACCCACATTTCTGTTTTCAGCTCAAACACTACGGAGAATTTGAACTTTGAGTTTTGCTGCTTTTTTTCACTCTTATAAAAATCTACACAATGAATTCGCTAGACCAGTGCTGACCAAAAGAACTTTCTTCAATGACTGAAATGTTCTGCTCTCCTCGATATGGTAACCACAAGCCACATATGGCTACTGGGCACTTTAGCTGCGGCTGGTGAGACTGAGGAACTGAACTTTAAATTTATTTAATTTTCATTAAGTTAAATGATTTAAATAGCTGCCTGTGGCTCATAGCTACCATACTGGACAGCACAACCCTAGACTTCTCCTTTTGACCTTCTTATAATTTTTCATTTAACACCATGTCTGTCATTTTCTGATTCTGAATGCACTTTGCCAAGGGCAAGCACAGAAGATGATTCCCATTTGCAGGGATAAATCCTTTGTCATTACTCAGCCCCAATTTTCTCATGTATATTGAGAAATATACAGTGTTATTTTAAGGAGTAAAGGAGAGAATACATGTTAAGTCCCAGGCACAGGACCTGGCATGTAATATTCAGTAACTGCTATTTATTTTATTATTATTGCCTGATGGCACATATTAACAATAAGTACCAGAATCAGAATTTGAACTCAGGATGACTCAAAACCCACAAACACGAACTACATTCTACAATGCCATCCGTAACCAGAAATTGTGCAGTTCATCACTGCCAAGAGCCTTTCTGATTATACTGGAAAAAAAATTCTGAACGTGTTTGAGCAGACGGATCTTCTGGTTATTCTAAATGTTCTCTTGCTGCTCAAAAAAATCCAAAGAATGCTTTCTACAATGTTCTAAGCATCTTAATCTCTTTTTACCCCTCTGAGTCATGCCTCTGTAATATTCATCGTATTTCAGTTATTAAGATAAACAAAACCCATCACTCTTTATAAAGAGTAAATGACTCACAGTTGAACTTTTAATATGTTATAGCAGAAACCAGTCTAATTGGATATTAACATATGGTACCTTACCCAATGCAGAGAGAAAAATTTCATGGGTCTTTAATAAAATGACATTCTTTAAAAAAAATCACACTGGACTTAAAATACAATCACTTTAAGAGTGGTGTGTTTGTTTAAAAAGAAAATTAACACAACATGCCATCACTAAATCCAAAAGAAGGATGGAATTGATAATCTGCCAAGCCCAGTGTGCAGGCCTGTCTGTCATCAATGTTGCATCCTCTCTTCCCTCCCGTCCATCCTCTCCTGCTTATGAGGAGAATCCAAGTTGCATTTCCCAGAATCCCCTTTCCTGTAGGAGTCTGGGTCAGGCTCTGCTATTGTGATGCCTTTGCACAAGATCCAGAAGTGCTTAGAGGAGGGGAAACACGCTTTCCTGATGGCAGACAGTAGACGTGCGGTTGGTGGAAGCTTCTAGATGAGCGCCTGAGTACACCTGCCTTGTGCTGTGGGCAACTTTGCAGCAGCTACAGCTCATCATGACTCCATGAACTAGAGCAGCAGACTCCCTGACTTCATGCCCCAGCCCTTCCAGGGTCCTGTAAGCTTCTGGCTCCCTTCTGTGGCATGCATCGAGGGTCTCAAATGTCATCTGTTTATTTGATACACTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTCCCACATGTTGTGGGAG
|
pathogenic
| 329,726 |
A genetic alteration at chromosome X, position 10459645, in gene MID1 (midline 1)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic
|
CCACTCACCACATCATAGTGCAAGAGAGCTTTATTTCATGGAAATTTTCATCCTGCCTGTTTGATTTAAACTCTTCAATCTCTCCACCAATCATTGGTATACAAAGAAACTCCCTGGTGTGGCCCAGGAGGCTTTCGCGATCTGTTCTTGTCTCCAGCCTCCTGGCTCACCTATCCTCCCAACCTAAGACACACTTTAACCACATGGATCAATTTTCTGTTCCATAAATATATTCTCCTTGTCTCTGGGCTTTTGCCCATGCTGTTCCTTCTGCATGGAACACTGTGTCCTCACATCCCCTGCTCCTAACCTACCTTGGAAAGCCTCTCAAGGTTGTGCTGGGGCACCCTGGCTTTGTCAACTTAGAACCTCTCATGGTTATTCCAGTCAGAGATTTCACATATTGAATGTTAATTAGGATTAATGTGCTTTATTCCCCAATAGTCTAGGACCTTTTTGAGAGAGAAGCACACCTTAGGGAGTTGAAGATACTCATAATATCCTTAGCATCTTGCACAGCATCCCAAACACACTTGGTGCTCAAACATATCTTTTGAAGGAACAAATATTTACATGTTCAAATGCAAATCAAATAATGCTGATCTAAGTGTGCATAGGTATTGTGCCATTTGTTGTATGACTGTAAAGAAATATATCATCATGTTATATTCTCTTATGTACTTTTAGAATTACTTTGAGAGGGTCTTTTTGACAACTCATAACAACCCTCAAGTTGTTAAAATATTCCCATTTTAAAACTGAAGGAACACTAAATGCATTGTGGGATCCTGGATTGGGTCCCGGAATAGGAAAGGAACATTAGTGGAAAGCTGGTAAAATCTGAATAAAGTCTGGAGTTTAGTTATGAGTAATTCATCAATGTTAATTTCTTAGTTATGATAACTGTACCAAGGTTACATAAGATGTTAATATTTGGGCAAACTGGGTTAAGGGTGTACAGAACTCTCTGTATTATCTATGGATTTCCTGTAAATCTACAGCTATTCCAAAATAAAAAATCTATTTAAAAATATGAAGAAACTAGCCATATAGCTATATGGGTACCAAGTGGGAAAGCCACAGTCTTCTCATTCGTAATTCAGTGCTCTCTTTACATCCCTTGTTCTTCCTCTAGGATCCAACACATTCCTCTAGGATACAACACTTGTACTGAGAAACAAGGATATAGGTTAAATGAGGGTTCCCCTTGAAAAGCACTTAATTGTTCCTGTTGACTGCCTGGCAACCTCACAACATGGCGCCATACCGACACACTCCAATTTGCTTTCTCTTGGGAGGTCTTATGCAAATAAACACCATGTTACATAACATAATATTCCTAGATCAAAAGGATGTAAAGAAAGAAGAGAGGATAAAACAAAACACATGTGGACAGAGAGAGGGAGATGACAGTATCATGAGACACACATATAGGCCAGACCATTCTCTGTGATGCGCACTGTCCTGTGGATTGGGGATGTTTCCCATCATCCCTGGCCTCTACTCACTACATGCCGGTAGCATCCACCTCAGATGTGACAACTAAAAACCTCTTCCAGATATTACTAAATGTCCTGGTAGGGTGGGGTGGAGGGGGAGGAAGAAGTGTCCCTGATTGAGAACCACAGACTCCGACTGTTTTCTAGAATAAAAGAATTTCTGAAGAGTGATTAGTTGGCTACTCTGCTATGAAAAATAACACTATCCACCATTTACAGAGCCCCTACTGTGTGTCAGGTCTTACATATACATCATCTACTTCTCACAAGAATGCCTCCAGGAATATTTATTTAAAAAATGAGAAGACTCAATTTTTTAAAATTGAGTAATGCAGAGAGAGTAATGGCCTCACGGCTGTGAAGGAATAGAATCAGTTTTGGAACCTAGAGGTATCTGATGCAAATTCCATTATTCCACACTGGCTTTTTACTTGTTTTGGGGGGCTGTCAATGATACCCAAGACAGAGAAAAGGAAAAGAAAGGGGGACAGAGTCAGCTGAAAGAAGAGCAGATAAGACATGACAGCTCTGTTGAGTTCACAGCACTTACTGTTTGTCTTCAACTTCCCAGGCTCACTGCTGCGGCTGCCCGCCTGGTTGATGGCCTTGACCATGAAGATGTACTTGGTGCCGCTCTGCAGACCGTGCACCGTGTAGTGGTTCTGCTTGATGTTGGGTACTATCATCCAGCTATCAGCCGAATTACACAGACCTGCAAAGCCAATCAGACATGGTGCAGTTCTTTGGCACAAGGGGAGCAATGTTTGCATAATTTTAGGTTGAATAATTTCCATTTATTTGAATAGAGTTGGTAAGTGAAGTGCTTTGTCTTGGTAGTCATGTACGAAAAACTGACTTCACTAACGTAGATGTGGCAGATTGCATTTTTGCCTCCAAAATTCTCCCTGCCCTGTATATCCAGGCCCAAATAACTTTGCAGGTGCTCCTTCTAAAGAGGTGCAATATATTTCCCTGTCATGTGGCTTTGAATTTGGTCAAGTGACTTGCTTTGGTCAATAGCATGAGGCTGAAATGACAATGTGCTAGTTGCAAGAGTAGGCATGACAAAACCTTGAGGGTTTCTGTTGACCCTTTGTGTCTGCCACTGCTCTGGAGAAAATATGCCTAGGATACTCTGTTTATCCCAACAGGATGAGACAGGGAACAGCTTTACCATGCAGCCAACGCCCAGCCAGTGCAGGAGTGAACCAAGCAGCGATCAGCCAACCCCAACCGACCTCCAACAGGGAAGCTAAGAAATGATCATCATCCCTAGGATGACTGGTTTCAGAGTGGAGTGGGGCTGTTGCTCTGGCTGCATCCTGCAGGATGTGGGTTGGGGAGCAGACCGAGTATTTATGATGCTTGGAAGAATATGTAGGAAAAGGAAGCCCATCTTGTTTTGCAGCTGGTTGATGGCTGAAAACATCTCTTTGGTATCAGGTCCAACTCCCCTCTCTCCTTTTTCCACCCATCAATCTCCACTCCAATAGAACCTTTTTCCAAACCCTTGGTGACCAGGCTGTCAAGAAGTTTCCTGACTCTGTTGAATTTCCTTCACTGATCCCTGGGAGAGGGCTGGGCCCCCTCCACTTCCAGAGGACTCCAAAGCCACCACCCCACTCCTCTTTCAATTGATTTGCAAGTCAAAGGGTTAGTTCCTTTGATCTTGAGGCAACTTATACTTTACCAGATTCTCAAGAAGCAGTCCCTTAATCTTTTTTTGGTCTCACCTCTTTGATAATCTAATAAAACCTTTCTGTAGTAAGAAATTCACAAATGCATATACACACCAAACCACAAATATATGCATAGAATTTCAAGGTAGTCACAGGCTCCCGAAGCCTGTCTTTGAATCTTACTGAATACTTACTTACTCCATCTTTTGAGTTAAAAATTATTCATGGTATTGTCACAGTTGAAAAATTCACCTTATATGATTTCCATCTTGGGTGCATAATATTTTCAAGTACACATCAGTGAATTAAATATATATATATATATATGTATGTATGTATATATCATCTAAAGATATCTAAAGATACACACACACACACACACACACACACACATATTTGGTCTTGTGAATTTTCTGTTGCCTTTTTTTTTTTTTTTCTCTAACCTGCAAACATTTTCGCCAGTGGACTGCCAGATTTGAAAAAGCCAGCTTGAAGCAAGAATGTAATTTAGGACTCATAGAAGGGTTTGAGTGTGTGTGTGTTTATATTTGGAGATTCAGCAGAGCAATAAGAGGCACAATCCATCCCTCCTCCCCAAATTTATTTTCTCTAATTCTTAGCCCTCTGTTTTCCTACCAATTCTCATTTGCATATGATGCAGGAAAACATCCACAAATAGTTTAGTAACATGGGAATCTCCTTACTATATATCCCTTCTGATCTTCCTTCACCTTACCTTTTCCTTGAACATAGCTATAATAAACTCCATACTTCTGGATAATGCCACAGCCAAATATTAGATTTTGATCCAATCAAAGAAGGGTCATTTTGAACTCTGAGTTCTGGGCCCCAAGAGGCCTATAACTCTCTTTAGGTACTTAATATTATTACAGTAGTAATAAAACAAAAAATTAGCTT
|
CCACTCACCACATCATAGTGCAAGAGAGCTTTATTTCATGGAAATTTTCATCCTGCCTGTTTGATTTAAACTCTTCAATCTCTCCACCAATCATTGGTATACAAAGAAACTCCCTGGTGTGGCCCAGGAGGCTTTCGCGATCTGTTCTTGTCTCCAGCCTCCTGGCTCACCTATCCTCCCAACCTAAGACACACTTTAACCACATGGATCAATTTTCTGTTCCATAAATATATTCTCCTTGTCTCTGGGCTTTTGCCCATGCTGTTCCTTCTGCATGGAACACTGTGTCCTCACATCCCCTGCTCCTAACCTACCTTGGAAAGCCTCTCAAGGTTGTGCTGGGGCACCCTGGCTTTGTCAACTTAGAACCTCTCATGGTTATTCCAGTCAGAGATTTCACATATTGAATGTTAATTAGGATTAATGTGCTTTATTCCCCAATAGTCTAGGACCTTTTTGAGAGAGAAGCACACCTTAGGGAGTTGAAGATACTCATAATATCCTTAGCATCTTGCACAGCATCCCAAACACACTTGGTGCTCAAACATATCTTTTGAAGGAACAAATATTTACATGTTCAAATGCAAATCAAATAATGCTGATCTAAGTGTGCATAGGTATTGTGCCATTTGTTGTATGACTGTAAAGAAATATATCATCATGTTATATTCTCTTATGTACTTTTAGAATTACTTTGAGAGGGTCTTTTTGACAACTCATAACAACCCTCAAGTTGTTAAAATATTCCCATTTTAAAACTGAAGGAACACTAAATGCATTGTGGGATCCTGGATTGGGTCCCGGAATAGGAAAGGAACATTAGTGGAAAGCTGGTAAAATCTGAATAAAGTCTGGAGTTTAGTTATGAGTAATTCATCAATGTTAATTTCTTAGTTATGATAACTGTACCAAGGTTACATAAGATGTTAATATTTGGGCAAACTGGGTTAAGGGTGTACAGAACTCTCTGTATTATCTATGGATTTCCTGTAAATCTACAGCTATTCCAAAATAAAAAATCTATTTAAAAATATGAAGAAACTAGCCATATAGCTATATGGGTACCAAGTGGGAAAGCCACAGTCTTCTCATTCGTAATTCAGTGCTCTCTTTACATCCCTTGTTCTTCCTCTAGGATCCAACACATTCCTCTAGGATACAACACTTGTACTGAGAAACAAGGATATAGGTTAAATGAGGGTTCCCCTTGAAAAGCACTTAATTGTTCCTGTTGACTGCCTGGCAACCTCACAACATGGCGCCATACCGACACACTCCAATTTGCTTTCTCTTGGGAGGTCTTATGCAAATAAACACCATGTTACATAACATAATATTCCTAGATCAAAAGGATGTAAAGAAAGAAGAGAGGATAAAACAAAACACATGTGGACAGAGAGAGGGAGATGACAGTATCATGAGACACACATATAGGCCAGACCATTCTCTGTGATGCGCACTGTCCTGTGGATTGGGGATGTTTCCCATCATCCCTGGCCTCTACTCACTACATGCCGGTAGCATCCACCTCAGATGTGACAACTAAAAACCTCTTCCAGATATTACTAAATGTCCTGGTAGGGTGGGGTGGAGGGGGAGGAAGAAGTGTCCCTGATTGAGAACCACAGACTCCGACTGTTTTCTAGAATAAAAGAATTTCTGAAGAGTGATTAGTTGGCTACTCTGCTATGAAAAATAACACTATCCACCATTTACAGAGCCCCTACTGTGTGTCAGGTCTTACATATACATCATCTACTTCTCACAAGAATGCCTCCAGGAATATTTATTTAAAAAATGAGAAGACTCAATTTTTTAAAATTGAGTAATGCAGAGAGAGTAATGGCCTCACGGCTGTGAAGGAATAGAATCAGTTTTGGAACCTAGAGGTATCTGATGCAAATTCCATTATTCCACACTGGCTTTTTACTTGTTTTGGGGGGCTGTCAATGATACCCAAGACAGAGAAAAGGAAAAGAAAGGGGGACAGAGTCAGCTGAAAGAAGAGCAGATAAGACATGACAGCTCTGTTGAGTTCACAGCACTTACTGTTTGTTTGTCTTCAACTTCCCAGGCTCACTGCTGCGGCTGCCCGCCTGGTTGATGGCCTTGACCATGAAGATGTACTTGGTGCCGCTCTGCAGACCGTGCACCGTGTAGTGGTTCTGCTTGATGTTGGGTACTATCATCCAGCTATCAGCCGAATTACACAGACCTGCAAAGCCAATCAGACATGGTGCAGTTCTTTGGCACAAGGGGAGCAATGTTTGCATAATTTTAGGTTGAATAATTTCCATTTATTTGAATAGAGTTGGTAAGTGAAGTGCTTTGTCTTGGTAGTCATGTACGAAAAACTGACTTCACTAACGTAGATGTGGCAGATTGCATTTTTGCCTCCAAAATTCTCCCTGCCCTGTATATCCAGGCCCAAATAACTTTGCAGGTGCTCCTTCTAAAGAGGTGCAATATATTTCCCTGTCATGTGGCTTTGAATTTGGTCAAGTGACTTGCTTTGGTCAATAGCATGAGGCTGAAATGACAATGTGCTAGTTGCAAGAGTAGGCATGACAAAACCTTGAGGGTTTCTGTTGACCCTTTGTGTCTGCCACTGCTCTGGAGAAAATATGCCTAGGATACTCTGTTTATCCCAACAGGATGAGACAGGGAACAGCTTTACCATGCAGCCAACGCCCAGCCAGTGCAGGAGTGAACCAAGCAGCGATCAGCCAACCCCAACCGACCTCCAACAGGGAAGCTAAGAAATGATCATCATCCCTAGGATGACTGGTTTCAGAGTGGAGTGGGGCTGTTGCTCTGGCTGCATCCTGCAGGATGTGGGTTGGGGAGCAGACCGAGTATTTATGATGCTTGGAAGAATATGTAGGAAAAGGAAGCCCATCTTGTTTTGCAGCTGGTTGATGGCTGAAAACATCTCTTTGGTATCAGGTCCAACTCCCCTCTCTCCTTTTTCCACCCATCAATCTCCACTCCAATAGAACCTTTTTCCAAACCCTTGGTGACCAGGCTGTCAAGAAGTTTCCTGACTCTGTTGAATTTCCTTCACTGATCCCTGGGAGAGGGCTGGGCCCCCTCCACTTCCAGAGGACTCCAAAGCCACCACCCCACTCCTCTTTCAATTGATTTGCAAGTCAAAGGGTTAGTTCCTTTGATCTTGAGGCAACTTATACTTTACCAGATTCTCAAGAAGCAGTCCCTTAATCTTTTTTTGGTCTCACCTCTTTGATAATCTAATAAAACCTTTCTGTAGTAAGAAATTCACAAATGCATATACACACCAAACCACAAATATATGCATAGAATTTCAAGGTAGTCACAGGCTCCCGAAGCCTGTCTTTGAATCTTACTGAATACTTACTTACTCCATCTTTTGAGTTAAAAATTATTCATGGTATTGTCACAGTTGAAAAATTCACCTTATATGATTTCCATCTTGGGTGCATAATATTTTCAAGTACACATCAGTGAATTAAATATATATATATATATATGTATGTATGTATATATCATCTAAAGATATCTAAAGATACACACACACACACACACACACACACACATATTTGGTCTTGTGAATTTTCTGTTGCCTTTTTTTTTTTTTTTCTCTAACCTGCAAACATTTTCGCCAGTGGACTGCCAGATTTGAAAAAGCCAGCTTGAAGCAAGAATGTAATTTAGGACTCATAGAAGGGTTTGAGTGTGTGTGTGTTTATATTTGGAGATTCAGCAGAGCAATAAGAGGCACAATCCATCCCTCCTCCCCAAATTTATTTTCTCTAATTCTTAGCCCTCTGTTTTCCTACCAATTCTCATTTGCATATGATGCAGGAAAACATCCACAAATAGTTTAGTAACATGGGAATCTCCTTACTATATATCCCTTCTGATCTTCCTTCACCTTACCTTTTCCTTGAACATAGCTATAATAAACTCCATACTTCTGGATAATGCCACAGCCAAATATTAGATTTTGATCCAATCAAAGAAGGGTCATTTTGAACTCTGAGTTCTGGGCCCCAAGAGGCCTATAACTCTCTTTAGGTACTTAATATTATTACAGTAGTAATAAAACAAAAAATTA
|
pathogenic
| 329,734 |
Variant at chromosome X, position 10523193, gene MID1 (midline 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAATAGACATGGGTTAGAGGAATGGGCCTACCAGTCAGAGGGAACTGCTTGGTTAAGGGCCAGAAGGCTTAAAAGTGTAATGAATGATAATTGTTTAGTTTCAGTTCATGGGGTGGGGTGGTAAAAAAGACAGTTTGGGAGAAGATGGAAGAGGAATTTGAAAATCACATAAAGGAAGTGGCATCTATTTTTTCCTTATTCAGTGTAGTCATTGCAGGTTCTGCTGTTGTTGCAATTGTGGTTTATTTCATGGAAACATATCTGACAACTAAGATGCATTAATATACACCTGCAGTGCATTAAACTGTGTCCGCAAAAAGGTATGTTCAAGTCCTAACCCTTGGTACCTGTAAATGGGACCTTATTTGAAAACAGAATCTTTGTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCGATTTCCCAGGCTTGGGTGATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACCACAGGTGTGTGCTCCCACGCCTGGCTAATTTTTTGTATTTTTTAATAGAGATGGGTTTTTGCCATGTTGCCCAGGCTGGTCTCCTGAGCTCAAGCGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGGTGTGAGCCACCATGCCTGGCCTGAAAATAGAGTCTTCGCAGATGTAATCAAGTTAAAGTGAGGTAAGGCTGGAGTAGGGTGGGCTCTTTATAACAATAAGGAAATTTGGACACATATTCAGAGACACACCAGGAGAATGTGATAACGGAGGAAGGGTTTAGAGCGCTGTAGCTGAAAGCCAAGGAACTCCAAGAATTGCCTGCAACTACCAGAAAATGGGAAGAGGCAAGGAAGGATCCTCCCCTAGAACCTTTGTAGGGAGCATGGCCCTGCCAAAATCTTGATTTCAGACTTCTAGTCTCCAAAACTGAGAGAATAAATTAGTCTTGTTTCATACTTTCCCAGTTTGTGGTAATTTGTTATGGTAGCCATAGTACACTAATACAATACCTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCCCAGACTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCCGCCTCTGGAGTAGCTGGGACTACAGGTGCATGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACGCCCGGCCTACAATACCTTTTTTGACTGTTCTTTGTAAGGGCAATTAAAATCTCCAACATTAGGACTGCTATGTAATGCTAGATCAGGAAGAGCTATAATGGGAATGGGAAGCAGCCCTGGATGGGAAAGACTCTCTGAAGTTCTAATTCCTTTTAATTTCCTCCATCTTTTATTTTGGCTTTTGCAAAATATTTAATTTTAAGAAAGATTCTTGTTTTAAAATTATAAAGCATGAGGATATCAAAACCTTGATCTGGCAGTTTTCATATGAAACATACCATACAGAAATACAGAGATACTCACTTCAACATGTTGACAGGTTTGGATGAGTTTAGCCAAAAGGGTCTCCAGTTCTGTGTTCCTCTTAATAAGGTTGGTGAGGTTACTCTCTAAGTTTTGCTGTTCAAAAAAAAAAAAAAAAGAGGAAAAATATTATTCTGCATACTTTTATACTTCAGATACACAAAATTACTCATTCTCAGGAAAAACTGATACATTTTTCAGAAACCTTAGTGAAATCGACATAATTTCAAGTATTTATAGATTTAAACTGGATTTTCAAAAGTTGCATTTAAAAGAACCTTTTAGACACGCTCAGACTTTATTCTTTTTGTTCCTGCTTCTTGCACTAACTCAGGGATACTTAACAGAATAATTAGTTATAGGTTATCTCTAGGTCACGACCTAGGAAGAAAGGAGGTAATTGGATTTCTATCCCTTTACTTGAATCAGAGCTGGCAATAACATAAGGAATATATTCCCACATCAAATCAACTACCATTGGATTTTTCAGATTTATCCTTTTATGGGCAGGCTGAGGCTAATCCCTTGGAGGAAGGTTTGAATTGTTTAGCTCTTGCTGACAATAAGGTCATTTATAGACATTTATGATAAGTCCTCATCACACACACATTTGGTCAGTTGTAGTGGAGTTGACTCTGTATCCACTGGGTTCCACATACCTGGATTCAACCAACTGCAGATCAAAAATATTTGGAAAAAAATGGATGACTGCATCTGTACTGAACATGTACAGACTTTTTTCTCCTCATTATTCCCTAAACCATAGAATATAACTACTATTTACATAGTATTTACATTGTAATAAGTAATATAAGTTATCTAGAGAGAATTTAAGGTATGCAGGAGGATGTGATTAGGTTATATGCAAATAACAGGCCATTTTATATCAGGGACTTGAGCATCCATGATTTTAGTATCTATGAGAGACCCTGAAATTAATCCTTTATGGATACCAACAAACAATTGTACATTTTATTGTTCATGCTTCTATTCTTTGTCCATCAATGCCAGATCAAATTTCTTTGAACACTGTATTTACCACTCATTATCCTGCATAAGACTCTAGAATTATTCCCTATTCCTTTAGAGCATCAAACTTAAAGTTCTCTGGAATGACTATTTAATCCTATTTTCAAACACAATAGCTCTCTGTTCTGGGTAAGACTCACTAAGATTTCTCTGTTCCTTCTCATTCACATGCTCTTGATTGCCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCATGCTGGAAGAAGAACTGTCTTGGGCCACACATAAAATAACTAACACTAATGACAGCTGATGAGCTAAAAAAAAAAATCACAAAACAATCTCATAATGTTTTAAGAAAGTTTATGAATTTGTGTTGGGCTGCATTCAAAGCGCTTCTGGGCTGCAGGTGGCCTTGCAGGCCACGTGTTGGACAAGCTTGATTTACACCATTCATTCATTTACTTATGTGTTCCTACCATTCATTCATTTACTTATGTGTTCATACAACAAGTACTTATTAAGCTTCTACAATATGCCAGACTCTGAAAGAGACAGTGGGGAAATCAAATAAAAATATTAATATCTATTCCCTGTCCACAAGGAAATGGATGACTGTACAAACTGGGAGAAAGATGCTGCAAACAAGAGAAGGGAAAGAGTTGATGGCTGCTGGTTAAAGGTTTCCAAGAGGGCCAAGTCTTGCAGCTGAGGCTTGAAGGATGTCCAGGGGTTTTTTGTTGCACAACAGTGGAAACTTCTTGGAAAGAAAGAAGTGAGCATGTGGAAGAATCTTCCATGGGCAGGGAATAGAACAATGTCGTATGCCAACATCAGAGAGGTTGAGAGGGCAAAAGATTAGGGAAACTGTGTTTTAGCATATAGACAGTTCCACAAGTATGGCAAAGATACGGAACAACAGGAAATTTCATGGAAAAGAAAACAGACCTCAAATTTATAATGCCATCCAAGAAAGAGGATTTAGAAAGAGTTTGAGGGATTTTGAAAACTAACAAGTTCATAAAGGTGTTAATTTCATTATGCTGTAAAATTTATTTATGAAAATTTTAGCTCATTCTACTTCCCTAAATTTTTTATTTAGAAAAGTATATTAAGGAAAAGAACCACTTTCATCTAAGGCTTAAAATGCATATGTCA
|
GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAATAGACATGGGTTAGAGGAATGGGCCTACCAGTCAGAGGGAACTGCTTGGTTAAGGGCCAGAAGGCTTAAAAGTGTAATGAATGATAATTGTTTAGTTTCAGTTCATGGGGTGGGGTGGTAAAAAAGACAGTTTGGGAGAAGATGGAAGAGGAATTTGAAAATCACATAAAGGAAGTGGCATCTATTTTTTCCTTATTCAGTGTAGTCATTGCAGGTTCTGCTGTTGTTGCAATTGTGGTTTATTTCATGGAAACATATCTGACAACTAAGATGCATTAATATACACCTGCAGTGCATTAAACTGTGTCCGCAAAAAGGTATGTTCAAGTCCTAACCCTTGGTACCTGTAAATGGGACCTTATTTGAAAACAGAATCTTTGTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCGATTTCCCAGGCTTGGGTGATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACCACAGGTGTGTGCTCCCACGCCTGGCTAATTTTTTGTATTTTTTAATAGAGATGGGTTTTTGCCATGTTGCCCAGGCTGGTCTCCTGAGCTCAAGCGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGGTGTGAGCCACCATGCCTGGCCTGAAAATAGAGTCTTCGCAGATGTAATCAAGTTAAAGTGAGGTAAGGCTGGAGTAGGGTGGGCTCTTTATAACAATAAGGAAATTTGGACACATATTCAGAGACACACCAGGAGAATGTGATAACGGAGGAAGGGTTTAGAGCGCTGTAGCTGAAAGCCAAGGAACTCCAAGAATTGCCTGCAACTACCAGAAAATGGGAAGAGGCAAGGAAGGATCCTCCCCTAGAACCTTTGTAGGGAGCATGGCCCTGCCAAAATCTTGATTTCAGACTTCTAGTCTCCAAAACTGAGAGAATAAATTAGTCTTGTTTCATACTTTCCCAGTTTGTGGTAATTTGTTATGGTAGCCATAGTACACTAATACAATACCTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCCCAGACTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCCGCCTCTGGAGTAGCTGGGACTACAGGTGCATGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACGCCCGGCCTACAATACCTTTTTTGACTGTTCTTTGTAAGGGCAATTAAAATCTCCAACATTAGGACTGCTATGTAATGCTAGATCAGGAAGAGCTATAATGGGAATGGGAAGCAGCCCTGGATGGGAAAGACTCTCTGAAGTTCTAATTCCTTTTAATTTCCTCCATCTTTTATTTTGGCTTTTGCAAAATATTTAATTTTAAGAAAGATTCTTGTTTTAAAATTATAAAGCATGAGGATATCAAAACCTTGATCTGGCAGTTTTCATATGAAACATACCATACAGAAATACAGAGATACTCACTTCAACATGTTGACAGGTTTGGATGAGTTTAGCCAAAAGGGTCTCCAGTTCTGTGTTCCTCTTAATAAGGTTGGTGAGGTTACTCTCTAAGTTTTGCTGTTCAAAAAAAAAAAAAAAAAGAGGAAAAATATTATTCTGCATACTTTTATACTTCAGATACACAAAATTACTCATTCTCAGGAAAAACTGATACATTTTTCAGAAACCTTAGTGAAATCGACATAATTTCAAGTATTTATAGATTTAAACTGGATTTTCAAAAGTTGCATTTAAAAGAACCTTTTAGACACGCTCAGACTTTATTCTTTTTGTTCCTGCTTCTTGCACTAACTCAGGGATACTTAACAGAATAATTAGTTATAGGTTATCTCTAGGTCACGACCTAGGAAGAAAGGAGGTAATTGGATTTCTATCCCTTTACTTGAATCAGAGCTGGCAATAACATAAGGAATATATTCCCACATCAAATCAACTACCATTGGATTTTTCAGATTTATCCTTTTATGGGCAGGCTGAGGCTAATCCCTTGGAGGAAGGTTTGAATTGTTTAGCTCTTGCTGACAATAAGGTCATTTATAGACATTTATGATAAGTCCTCATCACACACACATTTGGTCAGTTGTAGTGGAGTTGACTCTGTATCCACTGGGTTCCACATACCTGGATTCAACCAACTGCAGATCAAAAATATTTGGAAAAAAATGGATGACTGCATCTGTACTGAACATGTACAGACTTTTTTCTCCTCATTATTCCCTAAACCATAGAATATAACTACTATTTACATAGTATTTACATTGTAATAAGTAATATAAGTTATCTAGAGAGAATTTAAGGTATGCAGGAGGATGTGATTAGGTTATATGCAAATAACAGGCCATTTTATATCAGGGACTTGAGCATCCATGATTTTAGTATCTATGAGAGACCCTGAAATTAATCCTTTATGGATACCAACAAACAATTGTACATTTTATTGTTCATGCTTCTATTCTTTGTCCATCAATGCCAGATCAAATTTCTTTGAACACTGTATTTACCACTCATTATCCTGCATAAGACTCTAGAATTATTCCCTATTCCTTTAGAGCATCAAACTTAAAGTTCTCTGGAATGACTATTTAATCCTATTTTCAAACACAATAGCTCTCTGTTCTGGGTAAGACTCACTAAGATTTCTCTGTTCCTTCTCATTCACATGCTCTTGATTGCCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCATGCTGGAAGAAGAACTGTCTTGGGCCACACATAAAATAACTAACACTAATGACAGCTGATGAGCTAAAAAAAAAAATCACAAAACAATCTCATAATGTTTTAAGAAAGTTTATGAATTTGTGTTGGGCTGCATTCAAAGCGCTTCTGGGCTGCAGGTGGCCTTGCAGGCCACGTGTTGGACAAGCTTGATTTACACCATTCATTCATTTACTTATGTGTTCCTACCATTCATTCATTTACTTATGTGTTCATACAACAAGTACTTATTAAGCTTCTACAATATGCCAGACTCTGAAAGAGACAGTGGGGAAATCAAATAAAAATATTAATATCTATTCCCTGTCCACAAGGAAATGGATGACTGTACAAACTGGGAGAAAGATGCTGCAAACAAGAGAAGGGAAAGAGTTGATGGCTGCTGGTTAAAGGTTTCCAAGAGGGCCAAGTCTTGCAGCTGAGGCTTGAAGGATGTCCAGGGGTTTTTTGTTGCACAACAGTGGAAACTTCTTGGAAAGAAAGAAGTGAGCATGTGGAAGAATCTTCCATGGGCAGGGAATAGAACAATGTCGTATGCCAACATCAGAGAGGTTGAGAGGGCAAAAGATTAGGGAAACTGTGTTTTAGCATATAGACAGTTCCACAAGTATGGCAAAGATACGGAACAACAGGAAATTTCATGGAAAAGAAAACAGACCTCAAATTTATAATGCCATCCAAGAAAGAGGATTTAGAAAGAGTTTGAGGGATTTTGAAAACTAACAAGTTCATAAAGGTGTTAATTTCATTATGCTGTAAAATTTATTTATGAAAATTTTAGCTCATTCTACTTCCCTAAATTTTTTATTTAGAAAAGTATATTAAGGAAAAGAACCACTTTCATCTAAGGCTTAAAATGCATATGTC
|
benign
| 329,755 |
Variant at chromosome position 10523193, chromosome X, gene MID1 (midline 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAATAGACATGGGTTAGAGGAATGGGCCTACCAGTCAGAGGGAACTGCTTGGTTAAGGGCCAGAAGGCTTAAAAGTGTAATGAATGATAATTGTTTAGTTTCAGTTCATGGGGTGGGGTGGTAAAAAAGACAGTTTGGGAGAAGATGGAAGAGGAATTTGAAAATCACATAAAGGAAGTGGCATCTATTTTTTCCTTATTCAGTGTAGTCATTGCAGGTTCTGCTGTTGTTGCAATTGTGGTTTATTTCATGGAAACATATCTGACAACTAAGATGCATTAATATACACCTGCAGTGCATTAAACTGTGTCCGCAAAAAGGTATGTTCAAGTCCTAACCCTTGGTACCTGTAAATGGGACCTTATTTGAAAACAGAATCTTTGTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCGATTTCCCAGGCTTGGGTGATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACCACAGGTGTGTGCTCCCACGCCTGGCTAATTTTTTGTATTTTTTAATAGAGATGGGTTTTTGCCATGTTGCCCAGGCTGGTCTCCTGAGCTCAAGCGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGGTGTGAGCCACCATGCCTGGCCTGAAAATAGAGTCTTCGCAGATGTAATCAAGTTAAAGTGAGGTAAGGCTGGAGTAGGGTGGGCTCTTTATAACAATAAGGAAATTTGGACACATATTCAGAGACACACCAGGAGAATGTGATAACGGAGGAAGGGTTTAGAGCGCTGTAGCTGAAAGCCAAGGAACTCCAAGAATTGCCTGCAACTACCAGAAAATGGGAAGAGGCAAGGAAGGATCCTCCCCTAGAACCTTTGTAGGGAGCATGGCCCTGCCAAAATCTTGATTTCAGACTTCTAGTCTCCAAAACTGAGAGAATAAATTAGTCTTGTTTCATACTTTCCCAGTTTGTGGTAATTTGTTATGGTAGCCATAGTACACTAATACAATACCTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCCCAGACTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCCGCCTCTGGAGTAGCTGGGACTACAGGTGCATGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACGCCCGGCCTACAATACCTTTTTTGACTGTTCTTTGTAAGGGCAATTAAAATCTCCAACATTAGGACTGCTATGTAATGCTAGATCAGGAAGAGCTATAATGGGAATGGGAAGCAGCCCTGGATGGGAAAGACTCTCTGAAGTTCTAATTCCTTTTAATTTCCTCCATCTTTTATTTTGGCTTTTGCAAAATATTTAATTTTAAGAAAGATTCTTGTTTTAAAATTATAAAGCATGAGGATATCAAAACCTTGATCTGGCAGTTTTCATATGAAACATACCATACAGAAATACAGAGATACTCACTTCAACATGTTGACAGGTTTGGATGAGTTTAGCCAAAAGGGTCTCCAGTTCTGTGTTCCTCTTAATAAGGTTGGTGAGGTTACTCTCTAAGTTTTGCTGTTCAAAAAAAAAAAAAAAAGAGGAAAAATATTATTCTGCATACTTTTATACTTCAGATACACAAAATTACTCATTCTCAGGAAAAACTGATACATTTTTCAGAAACCTTAGTGAAATCGACATAATTTCAAGTATTTATAGATTTAAACTGGATTTTCAAAAGTTGCATTTAAAAGAACCTTTTAGACACGCTCAGACTTTATTCTTTTTGTTCCTGCTTCTTGCACTAACTCAGGGATACTTAACAGAATAATTAGTTATAGGTTATCTCTAGGTCACGACCTAGGAAGAAAGGAGGTAATTGGATTTCTATCCCTTTACTTGAATCAGAGCTGGCAATAACATAAGGAATATATTCCCACATCAAATCAACTACCATTGGATTTTTCAGATTTATCCTTTTATGGGCAGGCTGAGGCTAATCCCTTGGAGGAAGGTTTGAATTGTTTAGCTCTTGCTGACAATAAGGTCATTTATAGACATTTATGATAAGTCCTCATCACACACACATTTGGTCAGTTGTAGTGGAGTTGACTCTGTATCCACTGGGTTCCACATACCTGGATTCAACCAACTGCAGATCAAAAATATTTGGAAAAAAATGGATGACTGCATCTGTACTGAACATGTACAGACTTTTTTCTCCTCATTATTCCCTAAACCATAGAATATAACTACTATTTACATAGTATTTACATTGTAATAAGTAATATAAGTTATCTAGAGAGAATTTAAGGTATGCAGGAGGATGTGATTAGGTTATATGCAAATAACAGGCCATTTTATATCAGGGACTTGAGCATCCATGATTTTAGTATCTATGAGAGACCCTGAAATTAATCCTTTATGGATACCAACAAACAATTGTACATTTTATTGTTCATGCTTCTATTCTTTGTCCATCAATGCCAGATCAAATTTCTTTGAACACTGTATTTACCACTCATTATCCTGCATAAGACTCTAGAATTATTCCCTATTCCTTTAGAGCATCAAACTTAAAGTTCTCTGGAATGACTATTTAATCCTATTTTCAAACACAATAGCTCTCTGTTCTGGGTAAGACTCACTAAGATTTCTCTGTTCCTTCTCATTCACATGCTCTTGATTGCCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCATGCTGGAAGAAGAACTGTCTTGGGCCACACATAAAATAACTAACACTAATGACAGCTGATGAGCTAAAAAAAAAAATCACAAAACAATCTCATAATGTTTTAAGAAAGTTTATGAATTTGTGTTGGGCTGCATTCAAAGCGCTTCTGGGCTGCAGGTGGCCTTGCAGGCCACGTGTTGGACAAGCTTGATTTACACCATTCATTCATTTACTTATGTGTTCCTACCATTCATTCATTTACTTATGTGTTCATACAACAAGTACTTATTAAGCTTCTACAATATGCCAGACTCTGAAAGAGACAGTGGGGAAATCAAATAAAAATATTAATATCTATTCCCTGTCCACAAGGAAATGGATGACTGTACAAACTGGGAGAAAGATGCTGCAAACAAGAGAAGGGAAAGAGTTGATGGCTGCTGGTTAAAGGTTTCCAAGAGGGCCAAGTCTTGCAGCTGAGGCTTGAAGGATGTCCAGGGGTTTTTTGTTGCACAACAGTGGAAACTTCTTGGAAAGAAAGAAGTGAGCATGTGGAAGAATCTTCCATGGGCAGGGAATAGAACAATGTCGTATGCCAACATCAGAGAGGTTGAGAGGGCAAAAGATTAGGGAAACTGTGTTTTAGCATATAGACAGTTCCACAAGTATGGCAAAGATACGGAACAACAGGAAATTTCATGGAAAAGAAAACAGACCTCAAATTTATAATGCCATCCAAGAAAGAGGATTTAGAAAGAGTTTGAGGGATTTTGAAAACTAACAAGTTCATAAAGGTGTTAATTTCATTATGCTGTAAAATTTATTTATGAAAATTTTAGCTCATTCTACTTCCCTAAATTTTTTATTTAGAAAAGTATATTAAGGAAAAGAACCACTTTCATCTAAGGCTTAAAATGCATATGTCA
|
GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAATAGACATGGGTTAGAGGAATGGGCCTACCAGTCAGAGGGAACTGCTTGGTTAAGGGCCAGAAGGCTTAAAAGTGTAATGAATGATAATTGTTTAGTTTCAGTTCATGGGGTGGGGTGGTAAAAAAGACAGTTTGGGAGAAGATGGAAGAGGAATTTGAAAATCACATAAAGGAAGTGGCATCTATTTTTTCCTTATTCAGTGTAGTCATTGCAGGTTCTGCTGTTGTTGCAATTGTGGTTTATTTCATGGAAACATATCTGACAACTAAGATGCATTAATATACACCTGCAGTGCATTAAACTGTGTCCGCAAAAAGGTATGTTCAAGTCCTAACCCTTGGTACCTGTAAATGGGACCTTATTTGAAAACAGAATCTTTGTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCGATTTCCCAGGCTTGGGTGATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACCACAGGTGTGTGCTCCCACGCCTGGCTAATTTTTTGTATTTTTTAATAGAGATGGGTTTTTGCCATGTTGCCCAGGCTGGTCTCCTGAGCTCAAGCGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGGTGTGAGCCACCATGCCTGGCCTGAAAATAGAGTCTTCGCAGATGTAATCAAGTTAAAGTGAGGTAAGGCTGGAGTAGGGTGGGCTCTTTATAACAATAAGGAAATTTGGACACATATTCAGAGACACACCAGGAGAATGTGATAACGGAGGAAGGGTTTAGAGCGCTGTAGCTGAAAGCCAAGGAACTCCAAGAATTGCCTGCAACTACCAGAAAATGGGAAGAGGCAAGGAAGGATCCTCCCCTAGAACCTTTGTAGGGAGCATGGCCCTGCCAAAATCTTGATTTCAGACTTCTAGTCTCCAAAACTGAGAGAATAAATTAGTCTTGTTTCATACTTTCCCAGTTTGTGGTAATTTGTTATGGTAGCCATAGTACACTAATACAATACCTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCCCAGACTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCCGCCTCTGGAGTAGCTGGGACTACAGGTGCATGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACGCCCGGCCTACAATACCTTTTTTGACTGTTCTTTGTAAGGGCAATTAAAATCTCCAACATTAGGACTGCTATGTAATGCTAGATCAGGAAGAGCTATAATGGGAATGGGAAGCAGCCCTGGATGGGAAAGACTCTCTGAAGTTCTAATTCCTTTTAATTTCCTCCATCTTTTATTTTGGCTTTTGCAAAATATTTAATTTTAAGAAAGATTCTTGTTTTAAAATTATAAAGCATGAGGATATCAAAACCTTGATCTGGCAGTTTTCATATGAAACATACCATACAGAAATACAGAGATACTCACTTCAACATGTTGACAGGTTTGGATGAGTTTAGCCAAAAGGGTCTCCAGTTCTGTGTTCCTCTTAATAAGGTTGGTGAGGTTACTCTCTAAGTTTTGCTGTTCAAAAAAAAAAAAAAAAAAGAGGAAAAATATTATTCTGCATACTTTTATACTTCAGATACACAAAATTACTCATTCTCAGGAAAAACTGATACATTTTTCAGAAACCTTAGTGAAATCGACATAATTTCAAGTATTTATAGATTTAAACTGGATTTTCAAAAGTTGCATTTAAAAGAACCTTTTAGACACGCTCAGACTTTATTCTTTTTGTTCCTGCTTCTTGCACTAACTCAGGGATACTTAACAGAATAATTAGTTATAGGTTATCTCTAGGTCACGACCTAGGAAGAAAGGAGGTAATTGGATTTCTATCCCTTTACTTGAATCAGAGCTGGCAATAACATAAGGAATATATTCCCACATCAAATCAACTACCATTGGATTTTTCAGATTTATCCTTTTATGGGCAGGCTGAGGCTAATCCCTTGGAGGAAGGTTTGAATTGTTTAGCTCTTGCTGACAATAAGGTCATTTATAGACATTTATGATAAGTCCTCATCACACACACATTTGGTCAGTTGTAGTGGAGTTGACTCTGTATCCACTGGGTTCCACATACCTGGATTCAACCAACTGCAGATCAAAAATATTTGGAAAAAAATGGATGACTGCATCTGTACTGAACATGTACAGACTTTTTTCTCCTCATTATTCCCTAAACCATAGAATATAACTACTATTTACATAGTATTTACATTGTAATAAGTAATATAAGTTATCTAGAGAGAATTTAAGGTATGCAGGAGGATGTGATTAGGTTATATGCAAATAACAGGCCATTTTATATCAGGGACTTGAGCATCCATGATTTTAGTATCTATGAGAGACCCTGAAATTAATCCTTTATGGATACCAACAAACAATTGTACATTTTATTGTTCATGCTTCTATTCTTTGTCCATCAATGCCAGATCAAATTTCTTTGAACACTGTATTTACCACTCATTATCCTGCATAAGACTCTAGAATTATTCCCTATTCCTTTAGAGCATCAAACTTAAAGTTCTCTGGAATGACTATTTAATCCTATTTTCAAACACAATAGCTCTCTGTTCTGGGTAAGACTCACTAAGATTTCTCTGTTCCTTCTCATTCACATGCTCTTGATTGCCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCATGCTGGAAGAAGAACTGTCTTGGGCCACACATAAAATAACTAACACTAATGACAGCTGATGAGCTAAAAAAAAAAATCACAAAACAATCTCATAATGTTTTAAGAAAGTTTATGAATTTGTGTTGGGCTGCATTCAAAGCGCTTCTGGGCTGCAGGTGGCCTTGCAGGCCACGTGTTGGACAAGCTTGATTTACACCATTCATTCATTTACTTATGTGTTCCTACCATTCATTCATTTACTTATGTGTTCATACAACAAGTACTTATTAAGCTTCTACAATATGCCAGACTCTGAAAGAGACAGTGGGGAAATCAAATAAAAATATTAATATCTATTCCCTGTCCACAAGGAAATGGATGACTGTACAAACTGGGAGAAAGATGCTGCAAACAAGAGAAGGGAAAGAGTTGATGGCTGCTGGTTAAAGGTTTCCAAGAGGGCCAAGTCTTGCAGCTGAGGCTTGAAGGATGTCCAGGGGTTTTTTGTTGCACAACAGTGGAAACTTCTTGGAAAGAAAGAAGTGAGCATGTGGAAGAATCTTCCATGGGCAGGGAATAGAACAATGTCGTATGCCAACATCAGAGAGGTTGAGAGGGCAAAAGATTAGGGAAACTGTGTTTTAGCATATAGACAGTTCCACAAGTATGGCAAAGATACGGAACAACAGGAAATTTCATGGAAAAGAAAACAGACCTCAAATTTATAATGCCATCCAAGAAAGAGGATTTAGAAAGAGTTTGAGGGATTTTGAAAACTAACAAGTTCATAAAGGTGTTAATTTCATTATGCTGTAAAATTTATTTATGAAAATTTTAGCTCATTCTACTTCCCTAAATTTTTTATTTAGAAAAGTATATTAAGGAAAAGAACCACTTTCATCTAAGGCTTAAAATGCATATGT
|
benign
| 329,756 |
A genetic variant on chromosome X, position 10523193, affects the gene MID1 (midline 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
benign
|
GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAATAGACATGGGTTAGAGGAATGGGCCTACCAGTCAGAGGGAACTGCTTGGTTAAGGGCCAGAAGGCTTAAAAGTGTAATGAATGATAATTGTTTAGTTTCAGTTCATGGGGTGGGGTGGTAAAAAAGACAGTTTGGGAGAAGATGGAAGAGGAATTTGAAAATCACATAAAGGAAGTGGCATCTATTTTTTCCTTATTCAGTGTAGTCATTGCAGGTTCTGCTGTTGTTGCAATTGTGGTTTATTTCATGGAAACATATCTGACAACTAAGATGCATTAATATACACCTGCAGTGCATTAAACTGTGTCCGCAAAAAGGTATGTTCAAGTCCTAACCCTTGGTACCTGTAAATGGGACCTTATTTGAAAACAGAATCTTTGTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCGATTTCCCAGGCTTGGGTGATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACCACAGGTGTGTGCTCCCACGCCTGGCTAATTTTTTGTATTTTTTAATAGAGATGGGTTTTTGCCATGTTGCCCAGGCTGGTCTCCTGAGCTCAAGCGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGGTGTGAGCCACCATGCCTGGCCTGAAAATAGAGTCTTCGCAGATGTAATCAAGTTAAAGTGAGGTAAGGCTGGAGTAGGGTGGGCTCTTTATAACAATAAGGAAATTTGGACACATATTCAGAGACACACCAGGAGAATGTGATAACGGAGGAAGGGTTTAGAGCGCTGTAGCTGAAAGCCAAGGAACTCCAAGAATTGCCTGCAACTACCAGAAAATGGGAAGAGGCAAGGAAGGATCCTCCCCTAGAACCTTTGTAGGGAGCATGGCCCTGCCAAAATCTTGATTTCAGACTTCTAGTCTCCAAAACTGAGAGAATAAATTAGTCTTGTTTCATACTTTCCCAGTTTGTGGTAATTTGTTATGGTAGCCATAGTACACTAATACAATACCTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCCCAGACTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCCGCCTCTGGAGTAGCTGGGACTACAGGTGCATGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACGCCCGGCCTACAATACCTTTTTTGACTGTTCTTTGTAAGGGCAATTAAAATCTCCAACATTAGGACTGCTATGTAATGCTAGATCAGGAAGAGCTATAATGGGAATGGGAAGCAGCCCTGGATGGGAAAGACTCTCTGAAGTTCTAATTCCTTTTAATTTCCTCCATCTTTTATTTTGGCTTTTGCAAAATATTTAATTTTAAGAAAGATTCTTGTTTTAAAATTATAAAGCATGAGGATATCAAAACCTTGATCTGGCAGTTTTCATATGAAACATACCATACAGAAATACAGAGATACTCACTTCAACATGTTGACAGGTTTGGATGAGTTTAGCCAAAAGGGTCTCCAGTTCTGTGTTCCTCTTAATAAGGTTGGTGAGGTTACTCTCTAAGTTTTGCTGTTCAAAAAAAAAAAAAAAAGAGGAAAAATATTATTCTGCATACTTTTATACTTCAGATACACAAAATTACTCATTCTCAGGAAAAACTGATACATTTTTCAGAAACCTTAGTGAAATCGACATAATTTCAAGTATTTATAGATTTAAACTGGATTTTCAAAAGTTGCATTTAAAAGAACCTTTTAGACACGCTCAGACTTTATTCTTTTTGTTCCTGCTTCTTGCACTAACTCAGGGATACTTAACAGAATAATTAGTTATAGGTTATCTCTAGGTCACGACCTAGGAAGAAAGGAGGTAATTGGATTTCTATCCCTTTACTTGAATCAGAGCTGGCAATAACATAAGGAATATATTCCCACATCAAATCAACTACCATTGGATTTTTCAGATTTATCCTTTTATGGGCAGGCTGAGGCTAATCCCTTGGAGGAAGGTTTGAATTGTTTAGCTCTTGCTGACAATAAGGTCATTTATAGACATTTATGATAAGTCCTCATCACACACACATTTGGTCAGTTGTAGTGGAGTTGACTCTGTATCCACTGGGTTCCACATACCTGGATTCAACCAACTGCAGATCAAAAATATTTGGAAAAAAATGGATGACTGCATCTGTACTGAACATGTACAGACTTTTTTCTCCTCATTATTCCCTAAACCATAGAATATAACTACTATTTACATAGTATTTACATTGTAATAAGTAATATAAGTTATCTAGAGAGAATTTAAGGTATGCAGGAGGATGTGATTAGGTTATATGCAAATAACAGGCCATTTTATATCAGGGACTTGAGCATCCATGATTTTAGTATCTATGAGAGACCCTGAAATTAATCCTTTATGGATACCAACAAACAATTGTACATTTTATTGTTCATGCTTCTATTCTTTGTCCATCAATGCCAGATCAAATTTCTTTGAACACTGTATTTACCACTCATTATCCTGCATAAGACTCTAGAATTATTCCCTATTCCTTTAGAGCATCAAACTTAAAGTTCTCTGGAATGACTATTTAATCCTATTTTCAAACACAATAGCTCTCTGTTCTGGGTAAGACTCACTAAGATTTCTCTGTTCCTTCTCATTCACATGCTCTTGATTGCCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCATGCTGGAAGAAGAACTGTCTTGGGCCACACATAAAATAACTAACACTAATGACAGCTGATGAGCTAAAAAAAAAAATCACAAAACAATCTCATAATGTTTTAAGAAAGTTTATGAATTTGTGTTGGGCTGCATTCAAAGCGCTTCTGGGCTGCAGGTGGCCTTGCAGGCCACGTGTTGGACAAGCTTGATTTACACCATTCATTCATTTACTTATGTGTTCCTACCATTCATTCATTTACTTATGTGTTCATACAACAAGTACTTATTAAGCTTCTACAATATGCCAGACTCTGAAAGAGACAGTGGGGAAATCAAATAAAAATATTAATATCTATTCCCTGTCCACAAGGAAATGGATGACTGTACAAACTGGGAGAAAGATGCTGCAAACAAGAGAAGGGAAAGAGTTGATGGCTGCTGGTTAAAGGTTTCCAAGAGGGCCAAGTCTTGCAGCTGAGGCTTGAAGGATGTCCAGGGGTTTTTTGTTGCACAACAGTGGAAACTTCTTGGAAAGAAAGAAGTGAGCATGTGGAAGAATCTTCCATGGGCAGGGAATAGAACAATGTCGTATGCCAACATCAGAGAGGTTGAGAGGGCAAAAGATTAGGGAAACTGTGTTTTAGCATATAGACAGTTCCACAAGTATGGCAAAGATACGGAACAACAGGAAATTTCATGGAAAAGAAAACAGACCTCAAATTTATAATGCCATCCAAGAAAGAGGATTTAGAAAGAGTTTGAGGGATTTTGAAAACTAACAAGTTCATAAAGGTGTTAATTTCATTATGCTGTAAAATTTATTTATGAAAATTTTAGCTCATTCTACTTCCCTAAATTTTTTATTTAGAAAAGTATATTAAGGAAAAGAACCACTTTCATCTAAGGCTTAAAATGCATATGTCA
|
GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAATAGACATGGGTTAGAGGAATGGGCCTACCAGTCAGAGGGAACTGCTTGGTTAAGGGCCAGAAGGCTTAAAAGTGTAATGAATGATAATTGTTTAGTTTCAGTTCATGGGGTGGGGTGGTAAAAAAGACAGTTTGGGAGAAGATGGAAGAGGAATTTGAAAATCACATAAAGGAAGTGGCATCTATTTTTTCCTTATTCAGTGTAGTCATTGCAGGTTCTGCTGTTGTTGCAATTGTGGTTTATTTCATGGAAACATATCTGACAACTAAGATGCATTAATATACACCTGCAGTGCATTAAACTGTGTCCGCAAAAAGGTATGTTCAAGTCCTAACCCTTGGTACCTGTAAATGGGACCTTATTTGAAAACAGAATCTTTGTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCGATTTCCCAGGCTTGGGTGATCCTCCCACCTCAGCCTCCCAAGTAACTGGGACCACAGGTGTGTGCTCCCACGCCTGGCTAATTTTTTGTATTTTTTAATAGAGATGGGTTTTTGCCATGTTGCCCAGGCTGGTCTCCTGAGCTCAAGCGATCCTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGGTGTGAGCCACCATGCCTGGCCTGAAAATAGAGTCTTCGCAGATGTAATCAAGTTAAAGTGAGGTAAGGCTGGAGTAGGGTGGGCTCTTTATAACAATAAGGAAATTTGGACACATATTCAGAGACACACCAGGAGAATGTGATAACGGAGGAAGGGTTTAGAGCGCTGTAGCTGAAAGCCAAGGAACTCCAAGAATTGCCTGCAACTACCAGAAAATGGGAAGAGGCAAGGAAGGATCCTCCCCTAGAACCTTTGTAGGGAGCATGGCCCTGCCAAAATCTTGATTTCAGACTTCTAGTCTCCAAAACTGAGAGAATAAATTAGTCTTGTTTCATACTTTCCCAGTTTGTGGTAATTTGTTATGGTAGCCATAGTACACTAATACAATACCTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCCCAGACTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCCGCCTCTGGAGTAGCTGGGACTACAGGTGCATGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACGCCCGGCCTACAATACCTTTTTTGACTGTTCTTTGTAAGGGCAATTAAAATCTCCAACATTAGGACTGCTATGTAATGCTAGATCAGGAAGAGCTATAATGGGAATGGGAAGCAGCCCTGGATGGGAAAGACTCTCTGAAGTTCTAATTCCTTTTAATTTCCTCCATCTTTTATTTTGGCTTTTGCAAAATATTTAATTTTAAGAAAGATTCTTGTTTTAAAATTATAAAGCATGAGGATATCAAAACCTTGATCTGGCAGTTTTCATATGAAACATACCATACAGAAATACAGAGATACTCACTTCAACATGTTGACAGGTTTGGATGAGTTTAGCCAAAAGGGTCTCCAGTTCTGTGTTCCTCTTAATAAGGTTGGTGAGGTTACTCTCTAAGTTTTGCTGTTCAAAAAAAAAAAAAAGAGGAAAAATATTATTCTGCATACTTTTATACTTCAGATACACAAAATTACTCATTCTCAGGAAAAACTGATACATTTTTCAGAAACCTTAGTGAAATCGACATAATTTCAAGTATTTATAGATTTAAACTGGATTTTCAAAAGTTGCATTTAAAAGAACCTTTTAGACACGCTCAGACTTTATTCTTTTTGTTCCTGCTTCTTGCACTAACTCAGGGATACTTAACAGAATAATTAGTTATAGGTTATCTCTAGGTCACGACCTAGGAAGAAAGGAGGTAATTGGATTTCTATCCCTTTACTTGAATCAGAGCTGGCAATAACATAAGGAATATATTCCCACATCAAATCAACTACCATTGGATTTTTCAGATTTATCCTTTTATGGGCAGGCTGAGGCTAATCCCTTGGAGGAAGGTTTGAATTGTTTAGCTCTTGCTGACAATAAGGTCATTTATAGACATTTATGATAAGTCCTCATCACACACACATTTGGTCAGTTGTAGTGGAGTTGACTCTGTATCCACTGGGTTCCACATACCTGGATTCAACCAACTGCAGATCAAAAATATTTGGAAAAAAATGGATGACTGCATCTGTACTGAACATGTACAGACTTTTTTCTCCTCATTATTCCCTAAACCATAGAATATAACTACTATTTACATAGTATTTACATTGTAATAAGTAATATAAGTTATCTAGAGAGAATTTAAGGTATGCAGGAGGATGTGATTAGGTTATATGCAAATAACAGGCCATTTTATATCAGGGACTTGAGCATCCATGATTTTAGTATCTATGAGAGACCCTGAAATTAATCCTTTATGGATACCAACAAACAATTGTACATTTTATTGTTCATGCTTCTATTCTTTGTCCATCAATGCCAGATCAAATTTCTTTGAACACTGTATTTACCACTCATTATCCTGCATAAGACTCTAGAATTATTCCCTATTCCTTTAGAGCATCAAACTTAAAGTTCTCTGGAATGACTATTTAATCCTATTTTCAAACACAATAGCTCTCTGTTCTGGGTAAGACTCACTAAGATTTCTCTGTTCCTTCTCATTCACATGCTCTTGATTGCCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCATGCTGGAAGAAGAACTGTCTTGGGCCACACATAAAATAACTAACACTAATGACAGCTGATGAGCTAAAAAAAAAAATCACAAAACAATCTCATAATGTTTTAAGAAAGTTTATGAATTTGTGTTGGGCTGCATTCAAAGCGCTTCTGGGCTGCAGGTGGCCTTGCAGGCCACGTGTTGGACAAGCTTGATTTACACCATTCATTCATTTACTTATGTGTTCCTACCATTCATTCATTTACTTATGTGTTCATACAACAAGTACTTATTAAGCTTCTACAATATGCCAGACTCTGAAAGAGACAGTGGGGAAATCAAATAAAAATATTAATATCTATTCCCTGTCCACAAGGAAATGGATGACTGTACAAACTGGGAGAAAGATGCTGCAAACAAGAGAAGGGAAAGAGTTGATGGCTGCTGGTTAAAGGTTTCCAAGAGGGCCAAGTCTTGCAGCTGAGGCTTGAAGGATGTCCAGGGGTTTTTTGTTGCACAACAGTGGAAACTTCTTGGAAAGAAAGAAGTGAGCATGTGGAAGAATCTTCCATGGGCAGGGAATAGAACAATGTCGTATGCCAACATCAGAGAGGTTGAGAGGGCAAAAGATTAGGGAAACTGTGTTTTAGCATATAGACAGTTCCACAAGTATGGCAAAGATACGGAACAACAGGAAATTTCATGGAAAAGAAAACAGACCTCAAATTTATAATGCCATCCAAGAAAGAGGATTTAGAAAGAGTTTGAGGGATTTTGAAAACTAACAAGTTCATAAAGGTGTTAATTTCATTATGCTGTAAAATTTATTTATGAAAATTTTAGCTCATTCTACTTCCCTAAATTTTTTATTTAGAAAAGTATATTAAGGAAAAGAACCACTTTCATCTAAGGCTTAAAATGCATATGTCANN
|
benign
| 329,757 |
Regarding the variant found on chromosome X at position 11765526 in gene MSL3 (MSL complex subunit 3): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Basilicata-Akhtar_syndrome']
|
GATAGGGGTGTGTCCACCTGTCCACTTTTGCAGCACAGGCTGCTGGACACCTCGTGTGGCCTCAAACATATTTATTTGTGTTTAATGGGGTAAGTTAAAGTGACTGCTGTATTTTCTGCACTTTATGTTTTCCTATGTAATCTTGACAGTAGCTACAAATCCATTTCATTTTGTGTGTATGTAGGTGTAGTATATAATGATTAGATTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGAGATGGTGGATGGATTAAGAATAACCTTTGATTACACTCTCCCGTTGGTTTTACTCTATCCATATGAACAAGCTCAGTATAAAAAGGTGACTTCGTCTAAATTTTTTCTTCCAATTAAGGAAAGTGCCACAAGCACTAACAGGTAAGTTATATAGCCTGCACTTTCACCCTCACATGTCAGCAGTACAATGATCAGATCCTTGTTTTGAAGAGTTCAATCTGATGGTGTGGGCCAACATGTTTGGAGGAGGGAAGGAAATGAAAAGTGTGTGTCCTGGTGGTTTTCTTTTTTCCTGGGTAAGCTAAGTCATCATTCACTTTCATATGGCTCTGGCAGATTTTACCAAGTGAAGACCCCAGCATAGAGAACTTAGGTGGGATGATGAGCAGCTCTCCCATTTTGGGGAAGACGGTAGTGGGTGGGGTGAAGAGAGCACAGGCCGGGGAGGGTGGAAGGGGCAGGTTTGAATTGAGTCCCCTCACTGGCTGTTTGTGTTAGTTGCAGAGGTTTCTTAGGAGCCTCCTTCTTTTGCAGGTGTGGGATGGACGGAAGGCAGGCCTAGCTAGTAGTATTAAATGGGAATGTTCACACAGGGCCTGCAAACTTTGGCCTTCAGTAAAAGTTACTTCTCTTCTTGCTCTGCGATGTCACCACTTTTCCTCCCTCAGTTACCGAGCATGCTCTGTTCTTTTTTGAGGGGGCAGGGAGGGGGATCCTGCAACCTAAAGTCTTTCCCTTAATCTCTATAAGGTATTGTGCTCGCTCCCTCTTCCCTCTCTTCCTGAGAGAGTGGTCTGTTCTCATGATTTCCACTCATCTGTCTCCTCTGTTAACCACTTATTATCTGCCTTCATCTACTGCTGTGCTGCAAAACTTTGCCTGCACGTGAACTGATAACCTCCCACTTGCAGTGTGCTGCCCTTTTTCTCGGCCACCTTGCCCTGCCCTCCCTTTCTCCCTCTGCTTCATGGCTGTCAGCTCCCCAGCTTCTCTTTCCGCCTGGCCGCCATCTCCTCTCAGCCATCCTTCCTTTGGTAGCTTCTCTCTCTCCTTTCCCTTTCCCCATGTCAGTTTCACCCCAGGTGAGAGGCCTGCAGGACTCACTGGGGACCTATGTCAAAGTCCCCAGGGCCTACTTCAAACCTTGAGACTCCTCCGGGGTGGGTTGTGTGTTTTCACACAGCAACCCCAATGCTTTTCTTAGTCCTGCCAGTAGTTACGTTTCAACGAGGTGGTAGGGTATTCTTGTTCTCTAGACCAGCGTTTCTCAGCCTCGGCCCTATTGATGTTTTGAATCAGATCTTTCTTTGTTGTGGGGCTGCCTGTGCAATATAGGATGTTTAGCAGAATTAGTGGCCTTCACCCACTAGATGCGGATAACACCTCTTTCCTCAGTTGCAGCAACCAAAATTGTCTCCAGACATTGCCATCTGTTCCCTGTCAGGGCAACATTGCTCCCACTTGAGACCCACTGCTCTAAGACACATATAACAGGGGCATCACAATCTTTAATGCCAGCGTGCCTTGCAGAGTTATGGAGAGGGTCCAAGTGACTTCGGTACATATTTACGACCCTCCTGGAGTAGAGAGAGCATTTCGTGTCTTCAGAAGCACTCCATGTTCTGGAAAGGCCCTTTGAGCCATGTGTGACATCCTCCATCTTCCCTAGGAGCCAGGAGGAACTCTCTCCCAGTCCGCCTTTGTTGAATCCATCCACGCCACAGTCCACAGAGAGTCAGCCGACCACCGGTGAACCAGCCACCCCCAAAAGGCGCAAAGCTGAGCCAGAAGCATTGCAGTCTCTGAGGCGGTCCACGCGCCACAGTGCCAACTGTGACAGGCTTTCTGAGAGCAGCGCTTCACCTCAGCCCAAGCGCCGGCAGCAGGACACATCCGCCAGCATGCCCAAGCTCTTCCTGCACCTGGAAAAGAGTAGGTTCATTCTCGGGTGCCCCAGGCCGGGGAGAGCCAGCGTGTACTTTGTGTTTAGTCAGTGCCAGGCATGGTGCTGAGGTTACATGTGTGTGTGTACAGTGCGTGTGATTCCCATGTCCAAAGTGCTGTCATGCTGCCTGCTTTCTGGAGCTGTAGAAAGTTGAAACACCTGGCGCAGATTGCAGCGCAGCTGTGTTGGAGGCAGGACTGGGCTGTTTCCTCAGCCTTTCTTTTTTGCCATCACTCTACCACTTGTGAGCAAATTGAGTTATCAGAATTCTATGTATTGTGTAGCTAGGCCTAATGAAGCATTCAAAATGAGCAATGCTAATGGGTTGTTTAGCTTTTTGTTTTCTTTGTACTCTGTCTCTGTAGTCTCTCCATTCTAAAGTTTAATTTGGAAAGGTCTGTCCTGAATTATCAAAGTAAGAATACTCAGATTTCCATAAGCTCTTCTCACCTCCTCTTAGCCCAACTCAAACTCCATCAGATCTTCTCACCTTGATTTTGAGCTGGAATGTTTCAATGAGCAAAATAAATTAGACAAAAGTTTACTTTCTTTTTTTCCAAAATACACACAGGTTGATTTGCTGTAATATAAAACTTAGAAGTAAACCACTGCTAATTAATCATTTTAAACTTTCAAAAACTGCTAAAACAGGTGCCATGAATCAGGTACAATTACTGTAGAAACTAACATTAGCTATTATACACTAACCAGGCATTTTTCCCAAATTAATTACAATCTGGTTGTTTAGCCTATGCTAATTAAGCCCTCTTAGTAGTAGTATTCACTTTACATTGAAGACCTCATTCACAAATACAGGGTGCTCTGTGCTTATATCCTTCCACCCTTGACTGCCAAAAATGTGTGAAATGGAAAGTTGATGGCAGCAGGGCCGACGATGTCACCTGGTGCCTCGCGGGCTCAGTGAGTTAGGAAGTCAGCAGCAGGGGAGGCAGCTTGCATGCCTGTCCCCCGGCACACTGTGTGGAGGTGGAAACAGAGCTACGCCAGCAGGCGCCAAGCACCCAACTCCAGAGATGGAAGCCTGGTGGCCTTCCTTTCACAGAGCTCAGCTGCTCGCAGGCTGTGAAATCTAAGACACCCCTCATAAATATCAAAAACACCTCCAAAGCTAACGTCAGGGTAAAACTACTTGGAGTCGAATCCCCATGCCCCAGTAGGTGTATCTTGTGTATGACCTGTGCCCTGTTCTTCCCTCAGCCTCGCCTGCTGTGCTGACTCCTTCAGGGGTCCTTCTAAGCATCATCCTGTTGGAACTCCCAAAAGTCATCCCAGTGCCATTCTGTGTTCAGGTGCCCATTTCCTTGTGTACATCCTGTCCCTGCCACATCCATAAGCTCCTGAGAGAAAGGTCTGACTTGTTGATTGTGTCACCCCATCACAGCTCAGTGTTGGTGGCATAGTTCCAGGTGCGTGAAAGTATTTGCTGATTCTTTGAAGATTGGGAAGGCTCAGAAGGGCAGAGTTGAAGAAGGCATACCTTTAAGAGAAGCCCTTTGAATAATCAAGTGCTAAAACAAAATCAGGTGCTTTTTTAAAACAGCTTGATTGAGATATAATCCACATACCTTAAAATTCACACATTTAAAGTTTTTAGTGTCTCCAGACACAGTGGTTCATGCCTGTGAGACTGGGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAATATAGTGAAACCCCATCTCTTAAAGAAAAAGTTAGCCAGGTGTGATGATGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGCAGCTGTGGCTGTGGCTGAAGCTGGCGGATCGCTTGAGGCCCAGAGTCTA
|
GATAGGGGTGTGTCCACCTGTCCACTTTTGCAGCACAGGCTGCTGGACACCTCGTGTGGCCTCAAACATATTTATTTGTGTTTAATGGGGTAAGTTAAAGTGACTGCTGTATTTTCTGCACTTTATGTTTTCCTATGTAATCTTGACAGTAGCTACAAATCCATTTCATTTTGTGTGTATGTAGGTGTAGTATATAATGATTAGATTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGAGATGGTGGATGGATTAAGAATAACCTTTGATTACACTCTCCCGTTGGTTTTACTCTATCCATATGAACAAGCTCAGTATAAAAAGGTGACTTCGTCTAAATTTTTTCTTCCAATTAAGGAAAGTGCCACAAGCACTAACAGGTAAGTTATATAGCCTGCACTTTCACCCTCACATGTCAGCAGTACAATGATCAGATCCTTGTTTTGAAGAGTTCAATCTGATGGTGTGGGCCAACATGTTTGGAGGAGGGAAGGAAATGAAAAGTGTGTGTCCTGGTGGTTTTCTTTTTTCCTGGGTAAGCTAAGTCATCATTCACTTTCATATGGCTCTGGCAGATTTTACCAAGTGAAGACCCCAGCATAGAGAACTTAGGTGGGATGATGAGCAGCTCTCCCATTTTGGGGAAGACGGTAGTGGGTGGGGTGAAGAGAGCACAGGCCGGGGAGGGTGGAAGGGGCAGGTTTGAATTGAGTCCCCTCACTGGCTGTTTGTGTTAGTTGCAGAGGTTTCTTAGGAGCCTCCTTCTTTTGCAGGTGTGGGATGGACGGAAGGCAGGCCTAGCTAGTAGTATTAAATGGGAATGTTCACACAGGGCCTGCAAACTTTGGCCTTCAGTAAAAGTTACTTCTCTTCTTGCTCTGCGATGTCACCACTTTTCCTCCCTCAGTTACCGAGCATGCTCTGTTCTTTTTTGAGGGGGCAGGGAGGGGGATCCTGCAACCTAAAGTCTTTCCCTTAATCTCTATAAGGTATTGTGCTCGCTCCCTCTTCCCTCTCTTCCTGAGAGAGTGGTCTGTTCTCATGATTTCCACTCATCTGTCTCCTCTGTTAACCACTTATTATCTGCCTTCATCTACTGCTGTGCTGCAAAACTTTGCCTGCACGTGAACTGATAACCTCCCACTTGCAGTGTGCTGCCCTTTTTCTCGGCCACCTTGCCCTGCCCTCCCTTTCTCCCTCTGCTTCATGGCTGTCAGCTCCCCAGCTTCTCTTTCCGCCTGGCCGCCATCTCCTCTCAGCCATCCTTCCTTTGGTAGCTTCTCTCTCTCCTTTCCCTTTCCCCATGTCAGTTTCACCCCAGGTGAGAGGCCTGCAGGACTCACTGGGGACCTATGTCAAAGTCCCCAGGGCCTACTTCAAACCTTGAGACTCCTCCGGGGTGGGTTGTGTGTTTTCACACAGCAACCCCAATGCTTTTCTTAGTCCTGCCAGTAGTTACGTTTCAACGAGGTGGTAGGGTATTCTTGTTCTCTAGACCAGCGTTTCTCAGCCTCGGCCCTATTGATGTTTTGAATCAGATCTTTCTTTGTTGTGGGGCTGCCTGTGCAATATAGGATGTTTAGCAGAATTAGTGGCCTTCACCCACTAGATGCGGATAACACCTCTTTCCTCAGTTGCAGCAACCAAAATTGTCTCCAGACATTGCCATCTGTTCCCTGTCAGGGCAACATTGCTCCCACTTGAGACCCACTGCTCTAAGACACATATAACAGGGGCATCACAATCTTTAATGCCAGCGTGCCTTGCAGAGTTATGGAGAGGGTCCAAGTGACTTCGGTACATATTTACGACCCTCCTGGAGTAGAGAGAGCATTTCGTGTCTTCAGAAGCACTCCATGTTCTGGAAAGGCCCTTTGAGCCATGTGTGACATCCTCCATCTTCCCTAGGAGCCAGGAGGAACTCTCTCCCAGTCCGCCTTTGTTGAATCCATCCACGCCACAGTCCACAGAGTCAGCCGACCACCGGTGAACCAGCCACCCCCAAAAGGCGCAAAGCTGAGCCAGAAGCATTGCAGTCTCTGAGGCGGTCCACGCGCCACAGTGCCAACTGTGACAGGCTTTCTGAGAGCAGCGCTTCACCTCAGCCCAAGCGCCGGCAGCAGGACACATCCGCCAGCATGCCCAAGCTCTTCCTGCACCTGGAAAAGAGTAGGTTCATTCTCGGGTGCCCCAGGCCGGGGAGAGCCAGCGTGTACTTTGTGTTTAGTCAGTGCCAGGCATGGTGCTGAGGTTACATGTGTGTGTGTACAGTGCGTGTGATTCCCATGTCCAAAGTGCTGTCATGCTGCCTGCTTTCTGGAGCTGTAGAAAGTTGAAACACCTGGCGCAGATTGCAGCGCAGCTGTGTTGGAGGCAGGACTGGGCTGTTTCCTCAGCCTTTCTTTTTTGCCATCACTCTACCACTTGTGAGCAAATTGAGTTATCAGAATTCTATGTATTGTGTAGCTAGGCCTAATGAAGCATTCAAAATGAGCAATGCTAATGGGTTGTTTAGCTTTTTGTTTTCTTTGTACTCTGTCTCTGTAGTCTCTCCATTCTAAAGTTTAATTTGGAAAGGTCTGTCCTGAATTATCAAAGTAAGAATACTCAGATTTCCATAAGCTCTTCTCACCTCCTCTTAGCCCAACTCAAACTCCATCAGATCTTCTCACCTTGATTTTGAGCTGGAATGTTTCAATGAGCAAAATAAATTAGACAAAAGTTTACTTTCTTTTTTTCCAAAATACACACAGGTTGATTTGCTGTAATATAAAACTTAGAAGTAAACCACTGCTAATTAATCATTTTAAACTTTCAAAAACTGCTAAAACAGGTGCCATGAATCAGGTACAATTACTGTAGAAACTAACATTAGCTATTATACACTAACCAGGCATTTTTCCCAAATTAATTACAATCTGGTTGTTTAGCCTATGCTAATTAAGCCCTCTTAGTAGTAGTATTCACTTTACATTGAAGACCTCATTCACAAATACAGGGTGCTCTGTGCTTATATCCTTCCACCCTTGACTGCCAAAAATGTGTGAAATGGAAAGTTGATGGCAGCAGGGCCGACGATGTCACCTGGTGCCTCGCGGGCTCAGTGAGTTAGGAAGTCAGCAGCAGGGGAGGCAGCTTGCATGCCTGTCCCCCGGCACACTGTGTGGAGGTGGAAACAGAGCTACGCCAGCAGGCGCCAAGCACCCAACTCCAGAGATGGAAGCCTGGTGGCCTTCCTTTCACAGAGCTCAGCTGCTCGCAGGCTGTGAAATCTAAGACACCCCTCATAAATATCAAAAACACCTCCAAAGCTAACGTCAGGGTAAAACTACTTGGAGTCGAATCCCCATGCCCCAGTAGGTGTATCTTGTGTATGACCTGTGCCCTGTTCTTCCCTCAGCCTCGCCTGCTGTGCTGACTCCTTCAGGGGTCCTTCTAAGCATCATCCTGTTGGAACTCCCAAAAGTCATCCCAGTGCCATTCTGTGTTCAGGTGCCCATTTCCTTGTGTACATCCTGTCCCTGCCACATCCATAAGCTCCTGAGAGAAAGGTCTGACTTGTTGATTGTGTCACCCCATCACAGCTCAGTGTTGGTGGCATAGTTCCAGGTGCGTGAAAGTATTTGCTGATTCTTTGAAGATTGGGAAGGCTCAGAAGGGCAGAGTTGAAGAAGGCATACCTTTAAGAGAAGCCCTTTGAATAATCAAGTGCTAAAACAAAATCAGGTGCTTTTTTAAAACAGCTTGATTGAGATATAATCCACATACCTTAAAATTCACACATTTAAAGTTTTTAGTGTCTCCAGACACAGTGGTTCATGCCTGTGAGACTGGGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAATATAGTGAAACCCCATCTCTTAAAGAAAAAGTTAGCCAGGTGTGATGATGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGCAGCTGTGGCTGTGGCTGAAGCTGGCGGATCGCTTGAGGCCCAGAGTCTANN
|
pathogenic
| 329,786 |
Variant in MSL3 (MSL complex subunit 3), chromosome X, position 11765677—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Basilicata-Akhtar_syndrome', 'Inborn_genetic_diseases']
|
GCTACAAATCCATTTCATTTTGTGTGTATGTAGGTGTAGTATATAATGATTAGATTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGAGATGGTGGATGGATTAAGAATAACCTTTGATTACACTCTCCCGTTGGTTTTACTCTATCCATATGAACAAGCTCAGTATAAAAAGGTGACTTCGTCTAAATTTTTTCTTCCAATTAAGGAAAGTGCCACAAGCACTAACAGGTAAGTTATATAGCCTGCACTTTCACCCTCACATGTCAGCAGTACAATGATCAGATCCTTGTTTTGAAGAGTTCAATCTGATGGTGTGGGCCAACATGTTTGGAGGAGGGAAGGAAATGAAAAGTGTGTGTCCTGGTGGTTTTCTTTTTTCCTGGGTAAGCTAAGTCATCATTCACTTTCATATGGCTCTGGCAGATTTTACCAAGTGAAGACCCCAGCATAGAGAACTTAGGTGGGATGATGAGCAGCTCTCCCATTTTGGGGAAGACGGTAGTGGGTGGGGTGAAGAGAGCACAGGCCGGGGAGGGTGGAAGGGGCAGGTTTGAATTGAGTCCCCTCACTGGCTGTTTGTGTTAGTTGCAGAGGTTTCTTAGGAGCCTCCTTCTTTTGCAGGTGTGGGATGGACGGAAGGCAGGCCTAGCTAGTAGTATTAAATGGGAATGTTCACACAGGGCCTGCAAACTTTGGCCTTCAGTAAAAGTTACTTCTCTTCTTGCTCTGCGATGTCACCACTTTTCCTCCCTCAGTTACCGAGCATGCTCTGTTCTTTTTTGAGGGGGCAGGGAGGGGGATCCTGCAACCTAAAGTCTTTCCCTTAATCTCTATAAGGTATTGTGCTCGCTCCCTCTTCCCTCTCTTCCTGAGAGAGTGGTCTGTTCTCATGATTTCCACTCATCTGTCTCCTCTGTTAACCACTTATTATCTGCCTTCATCTACTGCTGTGCTGCAAAACTTTGCCTGCACGTGAACTGATAACCTCCCACTTGCAGTGTGCTGCCCTTTTTCTCGGCCACCTTGCCCTGCCCTCCCTTTCTCCCTCTGCTTCATGGCTGTCAGCTCCCCAGCTTCTCTTTCCGCCTGGCCGCCATCTCCTCTCAGCCATCCTTCCTTTGGTAGCTTCTCTCTCTCCTTTCCCTTTCCCCATGTCAGTTTCACCCCAGGTGAGAGGCCTGCAGGACTCACTGGGGACCTATGTCAAAGTCCCCAGGGCCTACTTCAAACCTTGAGACTCCTCCGGGGTGGGTTGTGTGTTTTCACACAGCAACCCCAATGCTTTTCTTAGTCCTGCCAGTAGTTACGTTTCAACGAGGTGGTAGGGTATTCTTGTTCTCTAGACCAGCGTTTCTCAGCCTCGGCCCTATTGATGTTTTGAATCAGATCTTTCTTTGTTGTGGGGCTGCCTGTGCAATATAGGATGTTTAGCAGAATTAGTGGCCTTCACCCACTAGATGCGGATAACACCTCTTTCCTCAGTTGCAGCAACCAAAATTGTCTCCAGACATTGCCATCTGTTCCCTGTCAGGGCAACATTGCTCCCACTTGAGACCCACTGCTCTAAGACACATATAACAGGGGCATCACAATCTTTAATGCCAGCGTGCCTTGCAGAGTTATGGAGAGGGTCCAAGTGACTTCGGTACATATTTACGACCCTCCTGGAGTAGAGAGAGCATTTCGTGTCTTCAGAAGCACTCCATGTTCTGGAAAGGCCCTTTGAGCCATGTGTGACATCCTCCATCTTCCCTAGGAGCCAGGAGGAACTCTCTCCCAGTCCGCCTTTGTTGAATCCATCCACGCCACAGTCCACAGAGAGTCAGCCGACCACCGGTGAACCAGCCACCCCCAAAAGGCGCAAAGCTGAGCCAGAAGCATTGCAGTCTCTGAGGCGGTCCACGCGCCACAGTGCCAACTGTGACAGGCTTTCTGAGAGCAGCGCTTCACCTCAGCCCAAGCGCCGGCAGCAGGACACATCCGCCAGCATGCCCAAGCTCTTCCTGCACCTGGAAAAGAGTAGGTTCATTCTCGGGTGCCCCAGGCCGGGGAGAGCCAGCGTGTACTTTGTGTTTAGTCAGTGCCAGGCATGGTGCTGAGGTTACATGTGTGTGTGTACAGTGCGTGTGATTCCCATGTCCAAAGTGCTGTCATGCTGCCTGCTTTCTGGAGCTGTAGAAAGTTGAAACACCTGGCGCAGATTGCAGCGCAGCTGTGTTGGAGGCAGGACTGGGCTGTTTCCTCAGCCTTTCTTTTTTGCCATCACTCTACCACTTGTGAGCAAATTGAGTTATCAGAATTCTATGTATTGTGTAGCTAGGCCTAATGAAGCATTCAAAATGAGCAATGCTAATGGGTTGTTTAGCTTTTTGTTTTCTTTGTACTCTGTCTCTGTAGTCTCTCCATTCTAAAGTTTAATTTGGAAAGGTCTGTCCTGAATTATCAAAGTAAGAATACTCAGATTTCCATAAGCTCTTCTCACCTCCTCTTAGCCCAACTCAAACTCCATCAGATCTTCTCACCTTGATTTTGAGCTGGAATGTTTCAATGAGCAAAATAAATTAGACAAAAGTTTACTTTCTTTTTTTCCAAAATACACACAGGTTGATTTGCTGTAATATAAAACTTAGAAGTAAACCACTGCTAATTAATCATTTTAAACTTTCAAAAACTGCTAAAACAGGTGCCATGAATCAGGTACAATTACTGTAGAAACTAACATTAGCTATTATACACTAACCAGGCATTTTTCCCAAATTAATTACAATCTGGTTGTTTAGCCTATGCTAATTAAGCCCTCTTAGTAGTAGTATTCACTTTACATTGAAGACCTCATTCACAAATACAGGGTGCTCTGTGCTTATATCCTTCCACCCTTGACTGCCAAAAATGTGTGAAATGGAAAGTTGATGGCAGCAGGGCCGACGATGTCACCTGGTGCCTCGCGGGCTCAGTGAGTTAGGAAGTCAGCAGCAGGGGAGGCAGCTTGCATGCCTGTCCCCCGGCACACTGTGTGGAGGTGGAAACAGAGCTACGCCAGCAGGCGCCAAGCACCCAACTCCAGAGATGGAAGCCTGGTGGCCTTCCTTTCACAGAGCTCAGCTGCTCGCAGGCTGTGAAATCTAAGACACCCCTCATAAATATCAAAAACACCTCCAAAGCTAACGTCAGGGTAAAACTACTTGGAGTCGAATCCCCATGCCCCAGTAGGTGTATCTTGTGTATGACCTGTGCCCTGTTCTTCCCTCAGCCTCGCCTGCTGTGCTGACTCCTTCAGGGGTCCTTCTAAGCATCATCCTGTTGGAACTCCCAAAAGTCATCCCAGTGCCATTCTGTGTTCAGGTGCCCATTTCCTTGTGTACATCCTGTCCCTGCCACATCCATAAGCTCCTGAGAGAAAGGTCTGACTTGTTGATTGTGTCACCCCATCACAGCTCAGTGTTGGTGGCATAGTTCCAGGTGCGTGAAAGTATTTGCTGATTCTTTGAAGATTGGGAAGGCTCAGAAGGGCAGAGTTGAAGAAGGCATACCTTTAAGAGAAGCCCTTTGAATAATCAAGTGCTAAAACAAAATCAGGTGCTTTTTTAAAACAGCTTGATTGAGATATAATCCACATACCTTAAAATTCACACATTTAAAGTTTTTAGTGTCTCCAGACACAGTGGTTCATGCCTGTGAGACTGGGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAATATAGTGAAACCCCATCTCTTAAAGAAAAAGTTAGCCAGGTGTGATGATGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGCAGCTGTGGCTGTGGCTGAAGCTGGCGGATCGCTTGAGGCCCAGAGTCTAAGACTGCAGTGAGCTCTCATTGGGCCACTGCAGTCGAGCCTGGGCGACACAAAGAGACCACCCTGTCTGATAGATAACTAACAAAATAGTTTTAGTTGGGCAAAATTAAAGAGTTGGGCAACCATCACTGAAATCAGTTTCAGACATTTTC
|
GCTACAAATCCATTTCATTTTGTGTGTATGTAGGTGTAGTATATAATGATTAGATTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGAGATGGTGGATGGATTAAGAATAACCTTTGATTACACTCTCCCGTTGGTTTTACTCTATCCATATGAACAAGCTCAGTATAAAAAGGTGACTTCGTCTAAATTTTTTCTTCCAATTAAGGAAAGTGCCACAAGCACTAACAGGTAAGTTATATAGCCTGCACTTTCACCCTCACATGTCAGCAGTACAATGATCAGATCCTTGTTTTGAAGAGTTCAATCTGATGGTGTGGGCCAACATGTTTGGAGGAGGGAAGGAAATGAAAAGTGTGTGTCCTGGTGGTTTTCTTTTTTCCTGGGTAAGCTAAGTCATCATTCACTTTCATATGGCTCTGGCAGATTTTACCAAGTGAAGACCCCAGCATAGAGAACTTAGGTGGGATGATGAGCAGCTCTCCCATTTTGGGGAAGACGGTAGTGGGTGGGGTGAAGAGAGCACAGGCCGGGGAGGGTGGAAGGGGCAGGTTTGAATTGAGTCCCCTCACTGGCTGTTTGTGTTAGTTGCAGAGGTTTCTTAGGAGCCTCCTTCTTTTGCAGGTGTGGGATGGACGGAAGGCAGGCCTAGCTAGTAGTATTAAATGGGAATGTTCACACAGGGCCTGCAAACTTTGGCCTTCAGTAAAAGTTACTTCTCTTCTTGCTCTGCGATGTCACCACTTTTCCTCCCTCAGTTACCGAGCATGCTCTGTTCTTTTTTGAGGGGGCAGGGAGGGGGATCCTGCAACCTAAAGTCTTTCCCTTAATCTCTATAAGGTATTGTGCTCGCTCCCTCTTCCCTCTCTTCCTGAGAGAGTGGTCTGTTCTCATGATTTCCACTCATCTGTCTCCTCTGTTAACCACTTATTATCTGCCTTCATCTACTGCTGTGCTGCAAAACTTTGCCTGCACGTGAACTGATAACCTCCCACTTGCAGTGTGCTGCCCTTTTTCTCGGCCACCTTGCCCTGCCCTCCCTTTCTCCCTCTGCTTCATGGCTGTCAGCTCCCCAGCTTCTCTTTCCGCCTGGCCGCCATCTCCTCTCAGCCATCCTTCCTTTGGTAGCTTCTCTCTCTCCTTTCCCTTTCCCCATGTCAGTTTCACCCCAGGTGAGAGGCCTGCAGGACTCACTGGGGACCTATGTCAAAGTCCCCAGGGCCTACTTCAAACCTTGAGACTCCTCCGGGGTGGGTTGTGTGTTTTCACACAGCAACCCCAATGCTTTTCTTAGTCCTGCCAGTAGTTACGTTTCAACGAGGTGGTAGGGTATTCTTGTTCTCTAGACCAGCGTTTCTCAGCCTCGGCCCTATTGATGTTTTGAATCAGATCTTTCTTTGTTGTGGGGCTGCCTGTGCAATATAGGATGTTTAGCAGAATTAGTGGCCTTCACCCACTAGATGCGGATAACACCTCTTTCCTCAGTTGCAGCAACCAAAATTGTCTCCAGACATTGCCATCTGTTCCCTGTCAGGGCAACATTGCTCCCACTTGAGACCCACTGCTCTAAGACACATATAACAGGGGCATCACAATCTTTAATGCCAGCGTGCCTTGCAGAGTTATGGAGAGGGTCCAAGTGACTTCGGTACATATTTACGACCCTCCTGGAGTAGAGAGAGCATTTCGTGTCTTCAGAAGCACTCCATGTTCTGGAAAGGCCCTTTGAGCCATGTGTGACATCCTCCATCTTCCCTAGGAGCCAGGAGGAACTCTCTCCCAGTCCGCCTTTGTTGAATCCATCCACGCCACAGTCCACAGAGAGTCAGCCGACCACCGGTGAACCAGCCACCCCCAAAAGGCGCAAAGCTGAGCCAGAAGCATTGCAGTCTCTGAGGCGGTCCACGCGCCACAGTGCCAACTGTGACAGGCTTTCTGAGAGCAGCGCTTCACCTCAGCCCAAGCGCCGGCAGCAGGACACATCCGCCAGCAGGACACATCCGCCAGCATGCCCAAGCTCTTCCTGCACCTGGAAAAGAGTAGGTTCATTCTCGGGTGCCCCAGGCCGGGGAGAGCCAGCGTGTACTTTGTGTTTAGTCAGTGCCAGGCATGGTGCTGAGGTTACATGTGTGTGTGTACAGTGCGTGTGATTCCCATGTCCAAAGTGCTGTCATGCTGCCTGCTTTCTGGAGCTGTAGAAAGTTGAAACACCTGGCGCAGATTGCAGCGCAGCTGTGTTGGAGGCAGGACTGGGCTGTTTCCTCAGCCTTTCTTTTTTGCCATCACTCTACCACTTGTGAGCAAATTGAGTTATCAGAATTCTATGTATTGTGTAGCTAGGCCTAATGAAGCATTCAAAATGAGCAATGCTAATGGGTTGTTTAGCTTTTTGTTTTCTTTGTACTCTGTCTCTGTAGTCTCTCCATTCTAAAGTTTAATTTGGAAAGGTCTGTCCTGAATTATCAAAGTAAGAATACTCAGATTTCCATAAGCTCTTCTCACCTCCTCTTAGCCCAACTCAAACTCCATCAGATCTTCTCACCTTGATTTTGAGCTGGAATGTTTCAATGAGCAAAATAAATTAGACAAAAGTTTACTTTCTTTTTTTCCAAAATACACACAGGTTGATTTGCTGTAATATAAAACTTAGAAGTAAACCACTGCTAATTAATCATTTTAAACTTTCAAAAACTGCTAAAACAGGTGCCATGAATCAGGTACAATTACTGTAGAAACTAACATTAGCTATTATACACTAACCAGGCATTTTTCCCAAATTAATTACAATCTGGTTGTTTAGCCTATGCTAATTAAGCCCTCTTAGTAGTAGTATTCACTTTACATTGAAGACCTCATTCACAAATACAGGGTGCTCTGTGCTTATATCCTTCCACCCTTGACTGCCAAAAATGTGTGAAATGGAAAGTTGATGGCAGCAGGGCCGACGATGTCACCTGGTGCCTCGCGGGCTCAGTGAGTTAGGAAGTCAGCAGCAGGGGAGGCAGCTTGCATGCCTGTCCCCCGGCACACTGTGTGGAGGTGGAAACAGAGCTACGCCAGCAGGCGCCAAGCACCCAACTCCAGAGATGGAAGCCTGGTGGCCTTCCTTTCACAGAGCTCAGCTGCTCGCAGGCTGTGAAATCTAAGACACCCCTCATAAATATCAAAAACACCTCCAAAGCTAACGTCAGGGTAAAACTACTTGGAGTCGAATCCCCATGCCCCAGTAGGTGTATCTTGTGTATGACCTGTGCCCTGTTCTTCCCTCAGCCTCGCCTGCTGTGCTGACTCCTTCAGGGGTCCTTCTAAGCATCATCCTGTTGGAACTCCCAAAAGTCATCCCAGTGCCATTCTGTGTTCAGGTGCCCATTTCCTTGTGTACATCCTGTCCCTGCCACATCCATAAGCTCCTGAGAGAAAGGTCTGACTTGTTGATTGTGTCACCCCATCACAGCTCAGTGTTGGTGGCATAGTTCCAGGTGCGTGAAAGTATTTGCTGATTCTTTGAAGATTGGGAAGGCTCAGAAGGGCAGAGTTGAAGAAGGCATACCTTTAAGAGAAGCCCTTTGAATAATCAAGTGCTAAAACAAAATCAGGTGCTTTTTTAAAACAGCTTGATTGAGATATAATCCACATACCTTAAAATTCACACATTTAAAGTTTTTAGTGTCTCCAGACACAGTGGTTCATGCCTGTGAGACTGGGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAATATAGTGAAACCCCATCTCTTAAAGAAAAAGTTAGCCAGGTGTGATGATGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGCAGCTGTGGCTGTGGCTGAAGCTGGCGGATCGCTTGAGGCCCAGAGTCTAAGACTGCAGTGAGCTCTCATTGGGCCACTGCAGTCGAGCCTGGGCGACACAAAGAGACCACCCTGTCTGATAGATAACTAACAAAATAGTTTTAGTTGGGCAAAATTAAAGAGTTGGGCAACCATCACTGAAAT
|
pathogenic
| 329,788 |
Does the variant impacting TRAPPC2 on chromosome X, position 13716052, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Hereditary_spastic_paraplegia_4', 'Spondyloepiphyseal_dysplasia_tarda']
|
CGTGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTATCAGAAAAAAAAAAAAAAAAAAAACATGATTATTGATAATGAACTCTTTATAAATAACACTGTTCACAAGGAAATACCAATTGATCTATTGATACGTGACATGAGACAGAATGTACTATTTTTAAATATAAAAGGAATTTCATTAGGTTTAGATAAGCTGAGAATACACAAAAGTTTTCCAGGCTATTTAATCAAGTAACTTACAATGTACACATTCCTGAGTATACACCATTGTGGTGACATCATTTATTTTGGAATTTTCTGCATTCAGCTTAAAAGGTGTTTCTTCCCAAGAAACTGAACTTTTCTGTCAAATGCACTTGATCGAATAGGAGAATTGGGTTCATAAAATGGATTCATTGAAAACTAGGAAAGAAGAAAGTATTAGTGAAGCAAAAAAGCTGACAAATCTTAAGTTTCTGAAAGGAAATCATTTTAAAGTTTTAAATTAAAAACCAAAGACATTCCAAAGTCTAAAGACCACATTTTTAAGTTTTATTGAAAATGCTGCATTGTTAATAACATCCTCTTAAGGAAATTTTTATTTTGGTGTTTTGGTTTTGAGAAGTATCTGTGGCAAAACTAATGGCAGTATGATAAATGTTGCCTGTGTCAGTTAACTTTCAGAATTTACCGTGTGTGTGAAATACTCATATTCATTATAAATAAATGGATTAATCTCTATGGCCCTTTGGCTACATAAAACAAAAAAATCTGCCATGTGCTCAGAGTTCAGAAAAAGCTATTCTTGTGTGGTAATCTTTTAACAATCAGGTTTTTAATACTCTCCTTTAACACAAGACTGCTAAATGATCAGCTTCTCAAATTAGTGTATCATAACGCATGACAGAAAATCATTAAATGGAATCACTAATGAGGAAAGGCATTGCTGATTTTTATACCTTAATCACTTGACATTGTTCATCTTTATAAGAGGGCTAAATATTACTTACTACCTCTGACTAGGAATACTGTTAAATTGTATTACTGTGCTGATATGCAAGAAATTCTGTCCAAATACAGAACTTATTTAAATTATTAAAAACATATGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCCAAAACAAAACATACTATTGTTATCACTGCAGTGTAACCATGACGTCCTATTATTATTTTATTTTTCAAAATCAAGAAATGCAAGTGGCGCCATTCTTCTTGAGTGGCTATTTGATCATATAAAAATCACTTCCTGCCAGTTTATGATCTCTATTGCACTGTAACTTATTTGTAAAGTAGATGGAAACATTTTAGATTAAATTATGAAGTAATTTTCCCTTATATAGGCTGCTTTCTTGCTGTCTTTAGGGATCCCTAATAAAATCAGCTATGAGGACAACAAGGTGAAGAATGAAACCAATTTACCTTCACAATCATCTAAAGGTAACTACCATGAAGTTGTGTTCCTAAATACATATTCACCTGGCTGTGAAGACTTACCTGCGGAGGGAGTTGCCAGAGATAGTTCTGATGGGGGAAAGCTAGTCTGAAAGGTAAACTGCAGCCTAAGGGAGTTACTTCAATAGGCCAGTTTCCTGACAAAGGTCGAATCCTTTCTCATCAGAATTTAAAAATTATAGAACATACCATACCTTTATATATAAATCATAAACATCAGTAAAGAAGTTCTTTATTCCATCTTCTTGTCTTATGTCATGAAGCATAATAAACCTCATATGTGAAATAATTAAGGCATAATCTTTCTTAGAAATGAAAAACAAAAAGCAACCAGTTCGTTGATACAGTATTCTTCAAATTAGTCACATGCAGTGTATTTGTGATGGAAAAGTTGAATATATAAACTGGGTTTAAAATTAGCTTAGTTTTATCATAAAGAGAACATAAGCTTTCAAAGTTAGAAAATAACTGTAAAATAAAGTAAAATCACCCTTGATAGGGTCCAGATAAACTCTTTTTGTGTATGAGACTTAGTTTTAAAATTAGCTATTAAACAAAATGTTTTTCCCCCCTAAAAAAAGAAAAGTAGCCCCATAAATGGAAACTTACATTTTCACCTGACTGTGAAGTCTACAGACTCAGAGCCTGGCATCTATGTTCCATGTTCTTCTGGTTTGTGAGCCCAAACTTTAGTTAGTTACCTTTACTAAGAAGGTAAGGATATGCCCCGCAGTGACAAATGCCGACACAAACCACTCGTTGAACTTGTCCACAGTTTTCAAGTACATGTTGTTCGATAGCCACATGTTCTCATCTACGAGGTCGAGAGCAGCATGAGCTATGAACTGGTTCAGATGACGATGGTCGTCCTAGATGACAGTGTGAGCAACCACAGATTAACATTTGCATATGGCATCGAGAATGCTGACATTTCATTCTGTAAATTCTATAGATGGTTTTCTTGTGGGGAAAAAACAGTTTGCTTTTATACTTTGTTATTGTCATGAGACTTATAAAAGATCTGTTTTCATATTATATTCTATTTTTAAATTTGATATCTACATCTCAACAGAAACAGCCAATTAATAAATGAAATGTGTATATAGAGGATTTATACAAAATCATTTATTGAAAATCTTTTTCATATAAATTTTTTTTCATGTTTCAAGAAGGAAGTTACCGAATTCTGTAACCATCTAAACATGTAAAAAAAGGATACTATGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGATCCTGTGGAGAAGAGGTGCCATTCACACTAGGCCTCAAGGTCTGGGAGGAAACTGAGAGGGCGGGGCTTCCTGCACAGTGGCACCAGGTAAGCAGTAGAGACAGTTGAAATGGCGCTTATAACGGCCTGCCAGAGGCCTCTTTCCAGTGCATGGAGCTTACATGACAGCGGGACCTAGGAGTAGTGGGAGGTGATGCTCAGCCCCAGCTGTGAGCAGTCGCCTGTGTCAATAGCAGGACACAGTCCTGTCAGAGCTGGGAGTGTCCTTTTCCTGGGCTGAAATGGCTTAAGTGAACAGAAGGTGGGACTGTCTGACCATAATGTGAAGACGGAATTCAGAACTTGGAATGCAGTCTTACTCCAATGTAGTTCTTTGAAAATACATTTTTTGGCCAGGCGCGGTGGCTTATGCTTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAATATGGTGAAATCCCATCTCTACTAATACAAAAATTGGCCGGCTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAAACTCCGTCTCAAAAAAACCCAAGCCATTTTTCAAAGAATACCTGTTATGGGTTGAAGTGTTTCCTCTCTAAAATTCCTTTGTTGAAGTCCTAAGCAACAGTACCTCAGAATGTGGCCTTATATGGAAAGAGGGTTGTTGCAGATGTGGTTAGCTAAGATGAGGTCACACTGGAGTAGGGTGGGCCCCTAATCCAATGGACTGGTGTATTTAGAAAAAGGGAACATTTAGAGATGCACACAGGGAGAAAAATGCCACATGAAGACTGGAGTTATGCTGCCACAAGCCAAGGAACTCCCAGAAGCTGGGAGAGAGGCCTGGACAGACCCTTGTCTTTGTGCCTTCATAGGGAGCATGGCCCCACTGACACCT
|
CGTGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTATCAGAAAAAAAAAAAAAAAAAAAACATGATTATTGATAATGAACTCTTTATAAATAACACTGTTCACAAGGAAATACCAATTGATCTATTGATACGTGACATGAGACAGAATGTACTATTTTTAAATATAAAAGGAATTTCATTAGGTTTAGATAAGCTGAGAATACACAAAAGTTTTCCAGGCTATTTAATCAAGTAACTTACAATGTACACATTCCTGAGTATACACCATTGTGGTGACATCATTTATTTTGGAATTTTCTGCATTCAGCTTAAAAGGTGTTTCTTCCCAAGAAACTGAACTTTTCTGTCAAATGCACTTGATCGAATAGGAGAATTGGGTTCATAAAATGGATTCATTGAAAACTAGGAAAGAAGAAAGTATTAGTGAAGCAAAAAAGCTGACAAATCTTAAGTTTCTGAAAGGAAATCATTTTAAAGTTTTAAATTAAAAACCAAAGACATTCCAAAGTCTAAAGACCACATTTTTAAGTTTTATTGAAAATGCTGCATTGTTAATAACATCCTCTTAAGGAAATTTTTATTTTGGTGTTTTGGTTTTGAGAAGTATCTGTGGCAAAACTAATGGCAGTATGATAAATGTTGCCTGTGTCAGTTAACTTTCAGAATTTACCGTGTGTGTGAAATACTCATATTCATTATAAATAAATGGATTAATCTCTATGGCCCTTTGGCTACATAAAACAAAAAAATCTGCCATGTGCTCAGAGTTCAGAAAAAGCTATTCTTGTGTGGTAATCTTTTAACAATCAGGTTTTTAATACTCTCCTTTAACACAAGACTGCTAAATGATCAGCTTCTCAAATTAGTGTATCATAACGCATGACAGAAAATCATTAAATGGAATCACTAATGAGGAAAGGCATTGCTGATTTTTATACCTTAATCACTTGACATTGTTCATCTTTATAAGAGGGCTAAATATTACTTACTACCTCTGACTAGGAATACTGTTAAATTGTATTACTGTGCTGATATGCAAGAAATTCTGTCCAAATACAGAACTTATTTAAATTATTAAAAACATATGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCCAAAACAAAACATACTATTGTTATCACTGCAGTGTAACCATGACGTCCTATTATTATTTTATTTTTCAAAATCAAGAAATGCAAGTGGCGCCATTCTTCTTGAGTGGCTATTTGATCATATAAAAATCACTTCCTGCCAGTTTATGATCTCTATTGCACTGTAACTTATTTGTAAAGTAGATGGAAACATTTTAGATTAAATTATGAAGTAATTTTCCCTTATATAGGCTGCTTTCTTGCTGTCTTTAGGGATCCCTAATAAAATCAGCTATGAGGACAACAAGGTGAAGAATGAAACCAATTTACCTTCACAATCATCTAAAGGTAACTACCATGAAGTTGTGTTCCTAAATACATATTCACCTGGCTGTGAAGACTTACCTGCGGAGGGAGTTGCCAGAGATAGTTCTGATGGGGGAAAGCTAGTCTGAAAGGTAAACTGCAGCCTAAGGGAGTTACTTCAATAGGCCAGTTTCCTGACAAAGGTCGAATCCTTTCTCATCAGAATTTAAAAATTATAGAACATACCATACCTTTATATATAAATCATAAACATCAGTAAAGAAGTTCTTTATTCCATCTTCTTATGTCATGAAGCATAATAAACCTCATATGTGAAATAATTAAGGCATAATCTTTCTTAGAAATGAAAAACAAAAAGCAACCAGTTCGTTGATACAGTATTCTTCAAATTAGTCACATGCAGTGTATTTGTGATGGAAAAGTTGAATATATAAACTGGGTTTAAAATTAGCTTAGTTTTATCATAAAGAGAACATAAGCTTTCAAAGTTAGAAAATAACTGTAAAATAAAGTAAAATCACCCTTGATAGGGTCCAGATAAACTCTTTTTGTGTATGAGACTTAGTTTTAAAATTAGCTATTAAACAAAATGTTTTTCCCCCCTAAAAAAAGAAAAGTAGCCCCATAAATGGAAACTTACATTTTCACCTGACTGTGAAGTCTACAGACTCAGAGCCTGGCATCTATGTTCCATGTTCTTCTGGTTTGTGAGCCCAAACTTTAGTTAGTTACCTTTACTAAGAAGGTAAGGATATGCCCCGCAGTGACAAATGCCGACACAAACCACTCGTTGAACTTGTCCACAGTTTTCAAGTACATGTTGTTCGATAGCCACATGTTCTCATCTACGAGGTCGAGAGCAGCATGAGCTATGAACTGGTTCAGATGACGATGGTCGTCCTAGATGACAGTGTGAGCAACCACAGATTAACATTTGCATATGGCATCGAGAATGCTGACATTTCATTCTGTAAATTCTATAGATGGTTTTCTTGTGGGGAAAAAACAGTTTGCTTTTATACTTTGTTATTGTCATGAGACTTATAAAAGATCTGTTTTCATATTATATTCTATTTTTAAATTTGATATCTACATCTCAACAGAAACAGCCAATTAATAAATGAAATGTGTATATAGAGGATTTATACAAAATCATTTATTGAAAATCTTTTTCATATAAATTTTTTTTCATGTTTCAAGAAGGAAGTTACCGAATTCTGTAACCATCTAAACATGTAAAAAAAGGATACTATGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGATCCTGTGGAGAAGAGGTGCCATTCACACTAGGCCTCAAGGTCTGGGAGGAAACTGAGAGGGCGGGGCTTCCTGCACAGTGGCACCAGGTAAGCAGTAGAGACAGTTGAAATGGCGCTTATAACGGCCTGCCAGAGGCCTCTTTCCAGTGCATGGAGCTTACATGACAGCGGGACCTAGGAGTAGTGGGAGGTGATGCTCAGCCCCAGCTGTGAGCAGTCGCCTGTGTCAATAGCAGGACACAGTCCTGTCAGAGCTGGGAGTGTCCTTTTCCTGGGCTGAAATGGCTTAAGTGAACAGAAGGTGGGACTGTCTGACCATAATGTGAAGACGGAATTCAGAACTTGGAATGCAGTCTTACTCCAATGTAGTTCTTTGAAAATACATTTTTTGGCCAGGCGCGGTGGCTTATGCTTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAATATGGTGAAATCCCATCTCTACTAATACAAAAATTGGCCGGCTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAAACTCCGTCTCAAAAAAACCCAAGCCATTTTTCAAAGAATACCTGTTATGGGTTGAAGTGTTTCCTCTCTAAAATTCCTTTGTTGAAGTCCTAAGCAACAGTACCTCAGAATGTGGCCTTATATGGAAAGAGGGTTGTTGCAGATGTGGTTAGCTAAGATGAGGTCACACTGGAGTAGGGTGGGCCCCTAATCCAATGGACTGGTGTATTTAGAAAAAGGGAACATTTAGAGATGCACACAGGGAGAAAAATGCCACATGAAGACTGGAGTTATGCTGCCACAAGCCAAGGAACTCCCAGAAGCTGGGAGAGAGGCCTGGACAGACCCTTGTCTTTGTGCCTTCATAGGGAGCATGGCCCCACTGACACCTNNNNN
|
pathogenic
| 329,843 |
The mutation in gene TRAPPC2 at chromosome X, position 13716085—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Spondyloepiphyseal_dysplasia_tarda']
|
GGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTATCAGAAAAAAAAAAAAAAAAAAAACATGATTATTGATAATGAACTCTTTATAAATAACACTGTTCACAAGGAAATACCAATTGATCTATTGATACGTGACATGAGACAGAATGTACTATTTTTAAATATAAAAGGAATTTCATTAGGTTTAGATAAGCTGAGAATACACAAAAGTTTTCCAGGCTATTTAATCAAGTAACTTACAATGTACACATTCCTGAGTATACACCATTGTGGTGACATCATTTATTTTGGAATTTTCTGCATTCAGCTTAAAAGGTGTTTCTTCCCAAGAAACTGAACTTTTCTGTCAAATGCACTTGATCGAATAGGAGAATTGGGTTCATAAAATGGATTCATTGAAAACTAGGAAAGAAGAAAGTATTAGTGAAGCAAAAAAGCTGACAAATCTTAAGTTTCTGAAAGGAAATCATTTTAAAGTTTTAAATTAAAAACCAAAGACATTCCAAAGTCTAAAGACCACATTTTTAAGTTTTATTGAAAATGCTGCATTGTTAATAACATCCTCTTAAGGAAATTTTTATTTTGGTGTTTTGGTTTTGAGAAGTATCTGTGGCAAAACTAATGGCAGTATGATAAATGTTGCCTGTGTCAGTTAACTTTCAGAATTTACCGTGTGTGTGAAATACTCATATTCATTATAAATAAATGGATTAATCTCTATGGCCCTTTGGCTACATAAAACAAAAAAATCTGCCATGTGCTCAGAGTTCAGAAAAAGCTATTCTTGTGTGGTAATCTTTTAACAATCAGGTTTTTAATACTCTCCTTTAACACAAGACTGCTAAATGATCAGCTTCTCAAATTAGTGTATCATAACGCATGACAGAAAATCATTAAATGGAATCACTAATGAGGAAAGGCATTGCTGATTTTTATACCTTAATCACTTGACATTGTTCATCTTTATAAGAGGGCTAAATATTACTTACTACCTCTGACTAGGAATACTGTTAAATTGTATTACTGTGCTGATATGCAAGAAATTCTGTCCAAATACAGAACTTATTTAAATTATTAAAAACATATGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCCAAAACAAAACATACTATTGTTATCACTGCAGTGTAACCATGACGTCCTATTATTATTTTATTTTTCAAAATCAAGAAATGCAAGTGGCGCCATTCTTCTTGAGTGGCTATTTGATCATATAAAAATCACTTCCTGCCAGTTTATGATCTCTATTGCACTGTAACTTATTTGTAAAGTAGATGGAAACATTTTAGATTAAATTATGAAGTAATTTTCCCTTATATAGGCTGCTTTCTTGCTGTCTTTAGGGATCCCTAATAAAATCAGCTATGAGGACAACAAGGTGAAGAATGAAACCAATTTACCTTCACAATCATCTAAAGGTAACTACCATGAAGTTGTGTTCCTAAATACATATTCACCTGGCTGTGAAGACTTACCTGCGGAGGGAGTTGCCAGAGATAGTTCTGATGGGGGAAAGCTAGTCTGAAAGGTAAACTGCAGCCTAAGGGAGTTACTTCAATAGGCCAGTTTCCTGACAAAGGTCGAATCCTTTCTCATCAGAATTTAAAAATTATAGAACATACCATACCTTTATATATAAATCATAAACATCAGTAAAGAAGTTCTTTATTCCATCTTCTTGTCTTATGTCATGAAGCATAATAAACCTCATATGTGAAATAATTAAGGCATAATCTTTCTTAGAAATGAAAAACAAAAAGCAACCAGTTCGTTGATACAGTATTCTTCAAATTAGTCACATGCAGTGTATTTGTGATGGAAAAGTTGAATATATAAACTGGGTTTAAAATTAGCTTAGTTTTATCATAAAGAGAACATAAGCTTTCAAAGTTAGAAAATAACTGTAAAATAAAGTAAAATCACCCTTGATAGGGTCCAGATAAACTCTTTTTGTGTATGAGACTTAGTTTTAAAATTAGCTATTAAACAAAATGTTTTTCCCCCCTAAAAAAAGAAAAGTAGCCCCATAAATGGAAACTTACATTTTCACCTGACTGTGAAGTCTACAGACTCAGAGCCTGGCATCTATGTTCCATGTTCTTCTGGTTTGTGAGCCCAAACTTTAGTTAGTTACCTTTACTAAGAAGGTAAGGATATGCCCCGCAGTGACAAATGCCGACACAAACCACTCGTTGAACTTGTCCACAGTTTTCAAGTACATGTTGTTCGATAGCCACATGTTCTCATCTACGAGGTCGAGAGCAGCATGAGCTATGAACTGGTTCAGATGACGATGGTCGTCCTAGATGACAGTGTGAGCAACCACAGATTAACATTTGCATATGGCATCGAGAATGCTGACATTTCATTCTGTAAATTCTATAGATGGTTTTCTTGTGGGGAAAAAACAGTTTGCTTTTATACTTTGTTATTGTCATGAGACTTATAAAAGATCTGTTTTCATATTATATTCTATTTTTAAATTTGATATCTACATCTCAACAGAAACAGCCAATTAATAAATGAAATGTGTATATAGAGGATTTATACAAAATCATTTATTGAAAATCTTTTTCATATAAATTTTTTTTCATGTTTCAAGAAGGAAGTTACCGAATTCTGTAACCATCTAAACATGTAAAAAAAGGATACTATGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGATCCTGTGGAGAAGAGGTGCCATTCACACTAGGCCTCAAGGTCTGGGAGGAAACTGAGAGGGCGGGGCTTCCTGCACAGTGGCACCAGGTAAGCAGTAGAGACAGTTGAAATGGCGCTTATAACGGCCTGCCAGAGGCCTCTTTCCAGTGCATGGAGCTTACATGACAGCGGGACCTAGGAGTAGTGGGAGGTGATGCTCAGCCCCAGCTGTGAGCAGTCGCCTGTGTCAATAGCAGGACACAGTCCTGTCAGAGCTGGGAGTGTCCTTTTCCTGGGCTGAAATGGCTTAAGTGAACAGAAGGTGGGACTGTCTGACCATAATGTGAAGACGGAATTCAGAACTTGGAATGCAGTCTTACTCCAATGTAGTTCTTTGAAAATACATTTTTTGGCCAGGCGCGGTGGCTTATGCTTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAATATGGTGAAATCCCATCTCTACTAATACAAAAATTGGCCGGCTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAAACTCCGTCTCAAAAAAACCCAAGCCATTTTTCAAAGAATACCTGTTATGGGTTGAAGTGTTTCCTCTCTAAAATTCCTTTGTTGAAGTCCTAAGCAACAGTACCTCAGAATGTGGCCTTATATGGAAAGAGGGTTGTTGCAGATGTGGTTAGCTAAGATGAGGTCACACTGGAGTAGGGTGGGCCCCTAATCCAATGGACTGGTGTATTTAGAAAAAGGGAACATTTAGAGATGCACACAGGGAGAAAAATGCCACATGAAGACTGGAGTTATGCTGCCACAAGCCAAGGAACTCCCAGAAGCTGGGAGAGAGGCCTGGACAGACCCTTGTCTTTGTGCCTTCATAGGGAGCATGGCCCCACTGACACCTTGATTTCAGATGGTGGCCCTCAGAACTGAGACA
|
GGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTATCAGAAAAAAAAAAAAAAAAAAAACATGATTATTGATAATGAACTCTTTATAAATAACACTGTTCACAAGGAAATACCAATTGATCTATTGATACGTGACATGAGACAGAATGTACTATTTTTAAATATAAAAGGAATTTCATTAGGTTTAGATAAGCTGAGAATACACAAAAGTTTTCCAGGCTATTTAATCAAGTAACTTACAATGTACACATTCCTGAGTATACACCATTGTGGTGACATCATTTATTTTGGAATTTTCTGCATTCAGCTTAAAAGGTGTTTCTTCCCAAGAAACTGAACTTTTCTGTCAAATGCACTTGATCGAATAGGAGAATTGGGTTCATAAAATGGATTCATTGAAAACTAGGAAAGAAGAAAGTATTAGTGAAGCAAAAAAGCTGACAAATCTTAAGTTTCTGAAAGGAAATCATTTTAAAGTTTTAAATTAAAAACCAAAGACATTCCAAAGTCTAAAGACCACATTTTTAAGTTTTATTGAAAATGCTGCATTGTTAATAACATCCTCTTAAGGAAATTTTTATTTTGGTGTTTTGGTTTTGAGAAGTATCTGTGGCAAAACTAATGGCAGTATGATAAATGTTGCCTGTGTCAGTTAACTTTCAGAATTTACCGTGTGTGTGAAATACTCATATTCATTATAAATAAATGGATTAATCTCTATGGCCCTTTGGCTACATAAAACAAAAAAATCTGCCATGTGCTCAGAGTTCAGAAAAAGCTATTCTTGTGTGGTAATCTTTTAACAATCAGGTTTTTAATACTCTCCTTTAACACAAGACTGCTAAATGATCAGCTTCTCAAATTAGTGTATCATAACGCATGACAGAAAATCATTAAATGGAATCACTAATGAGGAAAGGCATTGCTGATTTTTATACCTTAATCACTTGACATTGTTCATCTTTATAAGAGGGCTAAATATTACTTACTACCTCTGACTAGGAATACTGTTAAATTGTATTACTGTGCTGATATGCAAGAAATTCTGTCCAAATACAGAACTTATTTAAATTATTAAAAACATATGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCCAAAACAAAACATACTATTGTTATCACTGCAGTGTAACCATGACGTCCTATTATTATTTTATTTTTCAAAATCAAGAAATGCAAGTGGCGCCATTCTTCTTGAGTGGCTATTTGATCATATAAAAATCACTTCCTGCCAGTTTATGATCTCTATTGCACTGTAACTTATTTGTAAAGTAGATGGAAACATTTTAGATTAAATTATGAAGTAATTTTCCCTTATATAGGCTGCTTTCTTGCTGTCTTTAGGGATCCCTAATAAAATCAGCTATGAGGACAACAAGGTGAAGAATGAAACCAATTTACCTTCACAATCATCTAAAGGTAACTACCATGAAGTTGTGTTCCTAAATACATATTCACCTGGCTGTGAAGACTTACCTGCGGAGGGAGTTGCCAGAGATAGTTCTGATGGGGGAAAGCTAGTCTGAAAGGTAAACTGCAGCCTAAGGGAGTTACTTCAATAGGCCAGTTTCCTGACAAAGGTCGAATCCTTTCTCATCAGAATTTAAAAATTATAGAACATACCATACCTTTATATATAAATCATAAACATCAGTAAAGAAGTTCTTTATTCCATCTTCTTGTCTTATGTCATGAAGCATAATAAACCTCATGTGAAATAATTAAGGCATAATCTTTCTTAGAAATGAAAAACAAAAAGCAACCAGTTCGTTGATACAGTATTCTTCAAATTAGTCACATGCAGTGTATTTGTGATGGAAAAGTTGAATATATAAACTGGGTTTAAAATTAGCTTAGTTTTATCATAAAGAGAACATAAGCTTTCAAAGTTAGAAAATAACTGTAAAATAAAGTAAAATCACCCTTGATAGGGTCCAGATAAACTCTTTTTGTGTATGAGACTTAGTTTTAAAATTAGCTATTAAACAAAATGTTTTTCCCCCCTAAAAAAAGAAAAGTAGCCCCATAAATGGAAACTTACATTTTCACCTGACTGTGAAGTCTACAGACTCAGAGCCTGGCATCTATGTTCCATGTTCTTCTGGTTTGTGAGCCCAAACTTTAGTTAGTTACCTTTACTAAGAAGGTAAGGATATGCCCCGCAGTGACAAATGCCGACACAAACCACTCGTTGAACTTGTCCACAGTTTTCAAGTACATGTTGTTCGATAGCCACATGTTCTCATCTACGAGGTCGAGAGCAGCATGAGCTATGAACTGGTTCAGATGACGATGGTCGTCCTAGATGACAGTGTGAGCAACCACAGATTAACATTTGCATATGGCATCGAGAATGCTGACATTTCATTCTGTAAATTCTATAGATGGTTTTCTTGTGGGGAAAAAACAGTTTGCTTTTATACTTTGTTATTGTCATGAGACTTATAAAAGATCTGTTTTCATATTATATTCTATTTTTAAATTTGATATCTACATCTCAACAGAAACAGCCAATTAATAAATGAAATGTGTATATAGAGGATTTATACAAAATCATTTATTGAAAATCTTTTTCATATAAATTTTTTTTCATGTTTCAAGAAGGAAGTTACCGAATTCTGTAACCATCTAAACATGTAAAAAAAGGATACTATGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGATCCTGTGGAGAAGAGGTGCCATTCACACTAGGCCTCAAGGTCTGGGAGGAAACTGAGAGGGCGGGGCTTCCTGCACAGTGGCACCAGGTAAGCAGTAGAGACAGTTGAAATGGCGCTTATAACGGCCTGCCAGAGGCCTCTTTCCAGTGCATGGAGCTTACATGACAGCGGGACCTAGGAGTAGTGGGAGGTGATGCTCAGCCCCAGCTGTGAGCAGTCGCCTGTGTCAATAGCAGGACACAGTCCTGTCAGAGCTGGGAGTGTCCTTTTCCTGGGCTGAAATGGCTTAAGTGAACAGAAGGTGGGACTGTCTGACCATAATGTGAAGACGGAATTCAGAACTTGGAATGCAGTCTTACTCCAATGTAGTTCTTTGAAAATACATTTTTTGGCCAGGCGCGGTGGCTTATGCTTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAATATGGTGAAATCCCATCTCTACTAATACAAAAATTGGCCGGCTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAAACTCCGTCTCAAAAAAACCCAAGCCATTTTTCAAAGAATACCTGTTATGGGTTGAAGTGTTTCCTCTCTAAAATTCCTTTGTTGAAGTCCTAAGCAACAGTACCTCAGAATGTGGCCTTATATGGAAAGAGGGTTGTTGCAGATGTGGTTAGCTAAGATGAGGTCACACTGGAGTAGGGTGGGCCCCTAATCCAATGGACTGGTGTATTTAGAAAAAGGGAACATTTAGAGATGCACACAGGGAGAAAAATGCCACATGAAGACTGGAGTTATGCTGCCACAAGCCAAGGAACTCCCAGAAGCTGGGAGAGAGGCCTGGACAGACCCTTGTCTTTGTGCCTTCATAGGGAGCATGGCCCCACTGACACCTTGATTTCAGATGGTGGCCCTCAGAACTGAGACANN
|
pathogenic
| 329,844 |
Mutation at chromosome X, position 13716579, within TRAPPC2: benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Spondyloepiphyseal_dysplasia_tarda']
|
AGCAAAAAAGCTGACAAATCTTAAGTTTCTGAAAGGAAATCATTTTAAAGTTTTAAATTAAAAACCAAAGACATTCCAAAGTCTAAAGACCACATTTTTAAGTTTTATTGAAAATGCTGCATTGTTAATAACATCCTCTTAAGGAAATTTTTATTTTGGTGTTTTGGTTTTGAGAAGTATCTGTGGCAAAACTAATGGCAGTATGATAAATGTTGCCTGTGTCAGTTAACTTTCAGAATTTACCGTGTGTGTGAAATACTCATATTCATTATAAATAAATGGATTAATCTCTATGGCCCTTTGGCTACATAAAACAAAAAAATCTGCCATGTGCTCAGAGTTCAGAAAAAGCTATTCTTGTGTGGTAATCTTTTAACAATCAGGTTTTTAATACTCTCCTTTAACACAAGACTGCTAAATGATCAGCTTCTCAAATTAGTGTATCATAACGCATGACAGAAAATCATTAAATGGAATCACTAATGAGGAAAGGCATTGCTGATTTTTATACCTTAATCACTTGACATTGTTCATCTTTATAAGAGGGCTAAATATTACTTACTACCTCTGACTAGGAATACTGTTAAATTGTATTACTGTGCTGATATGCAAGAAATTCTGTCCAAATACAGAACTTATTTAAATTATTAAAAACATATGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCCAAAACAAAACATACTATTGTTATCACTGCAGTGTAACCATGACGTCCTATTATTATTTTATTTTTCAAAATCAAGAAATGCAAGTGGCGCCATTCTTCTTGAGTGGCTATTTGATCATATAAAAATCACTTCCTGCCAGTTTATGATCTCTATTGCACTGTAACTTATTTGTAAAGTAGATGGAAACATTTTAGATTAAATTATGAAGTAATTTTCCCTTATATAGGCTGCTTTCTTGCTGTCTTTAGGGATCCCTAATAAAATCAGCTATGAGGACAACAAGGTGAAGAATGAAACCAATTTACCTTCACAATCATCTAAAGGTAACTACCATGAAGTTGTGTTCCTAAATACATATTCACCTGGCTGTGAAGACTTACCTGCGGAGGGAGTTGCCAGAGATAGTTCTGATGGGGGAAAGCTAGTCTGAAAGGTAAACTGCAGCCTAAGGGAGTTACTTCAATAGGCCAGTTTCCTGACAAAGGTCGAATCCTTTCTCATCAGAATTTAAAAATTATAGAACATACCATACCTTTATATATAAATCATAAACATCAGTAAAGAAGTTCTTTATTCCATCTTCTTGTCTTATGTCATGAAGCATAATAAACCTCATATGTGAAATAATTAAGGCATAATCTTTCTTAGAAATGAAAAACAAAAAGCAACCAGTTCGTTGATACAGTATTCTTCAAATTAGTCACATGCAGTGTATTTGTGATGGAAAAGTTGAATATATAAACTGGGTTTAAAATTAGCTTAGTTTTATCATAAAGAGAACATAAGCTTTCAAAGTTAGAAAATAACTGTAAAATAAAGTAAAATCACCCTTGATAGGGTCCAGATAAACTCTTTTTGTGTATGAGACTTAGTTTTAAAATTAGCTATTAAACAAAATGTTTTTCCCCCCTAAAAAAAGAAAAGTAGCCCCATAAATGGAAACTTACATTTTCACCTGACTGTGAAGTCTACAGACTCAGAGCCTGGCATCTATGTTCCATGTTCTTCTGGTTTGTGAGCCCAAACTTTAGTTAGTTACCTTTACTAAGAAGGTAAGGATATGCCCCGCAGTGACAAATGCCGACACAAACCACTCGTTGAACTTGTCCACAGTTTTCAAGTACATGTTGTTCGATAGCCACATGTTCTCATCTACGAGGTCGAGAGCAGCATGAGCTATGAACTGGTTCAGATGACGATGGTCGTCCTAGATGACAGTGTGAGCAACCACAGATTAACATTTGCATATGGCATCGAGAATGCTGACATTTCATTCTGTAAATTCTATAGATGGTTTTCTTGTGGGGAAAAAACAGTTTGCTTTTATACTTTGTTATTGTCATGAGACTTATAAAAGATCTGTTTTCATATTATATTCTATTTTTAAATTTGATATCTACATCTCAACAGAAACAGCCAATTAATAAATGAAATGTGTATATAGAGGATTTATACAAAATCATTTATTGAAAATCTTTTTCATATAAATTTTTTTTCATGTTTCAAGAAGGAAGTTACCGAATTCTGTAACCATCTAAACATGTAAAAAAAGGATACTATGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGATCCTGTGGAGAAGAGGTGCCATTCACACTAGGCCTCAAGGTCTGGGAGGAAACTGAGAGGGCGGGGCTTCCTGCACAGTGGCACCAGGTAAGCAGTAGAGACAGTTGAAATGGCGCTTATAACGGCCTGCCAGAGGCCTCTTTCCAGTGCATGGAGCTTACATGACAGCGGGACCTAGGAGTAGTGGGAGGTGATGCTCAGCCCCAGCTGTGAGCAGTCGCCTGTGTCAATAGCAGGACACAGTCCTGTCAGAGCTGGGAGTGTCCTTTTCCTGGGCTGAAATGGCTTAAGTGAACAGAAGGTGGGACTGTCTGACCATAATGTGAAGACGGAATTCAGAACTTGGAATGCAGTCTTACTCCAATGTAGTTCTTTGAAAATACATTTTTTGGCCAGGCGCGGTGGCTTATGCTTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAATATGGTGAAATCCCATCTCTACTAATACAAAAATTGGCCGGCTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAAACTCCGTCTCAAAAAAACCCAAGCCATTTTTCAAAGAATACCTGTTATGGGTTGAAGTGTTTCCTCTCTAAAATTCCTTTGTTGAAGTCCTAAGCAACAGTACCTCAGAATGTGGCCTTATATGGAAAGAGGGTTGTTGCAGATGTGGTTAGCTAAGATGAGGTCACACTGGAGTAGGGTGGGCCCCTAATCCAATGGACTGGTGTATTTAGAAAAAGGGAACATTTAGAGATGCACACAGGGAGAAAAATGCCACATGAAGACTGGAGTTATGCTGCCACAAGCCAAGGAACTCCCAGAAGCTGGGAGAGAGGCCTGGACAGACCCTTGTCTTTGTGCCTTCATAGGGAGCATGGCCCCACTGACACCTTGATTTCAGATGGTGGCCCTCAGAACTGAGACAATAAATTTCTGCTGTCCCAAGCCACTCAGTTTTTCGTACTTTGTTACAACAGCCATAGGAAACTGAGACGGCTTCCTTGCCAAGGAGGCTGTTCTCATGCCTGGGCTGGAGGAGGGCGGCCCGTTGCCGTGGAATCCCATGCATAGTTAAAGCATGTTTTACTTCACTCATGTTGCCATGACAAAGCTAAGTGAATCCTTAGAGAAATGGATGTTTTTGTGTCTGGCTCACAGCAGTGTTTTCTTTTACAATGATGATCAATCCTGAAGAATTAGGAGCAAACTGAAAACGCTTTAAGAAAGTGAGTGGTAGCAGGAGAAAGAACTAAAATCAAGTTATGCAACAAAGTATTTTTATGTGTGCTTTGTCCAACACAAGGGCAGTGGAGTGCACAGAAATTACATACAAGTAGCTGCATCCCACAAAGCAGTACTGGTACAGAGATACCTCAAAAACAAGTTTTAATGAGTAGTGTTCTCATAATATGAGAAAAT
|
AGCAAAAAAGCTGACAAATCTTAAGTTTCTGAAAGGAAATCATTTTAAAGTTTTAAATTAAAAACCAAAGACATTCCAAAGTCTAAAGACCACATTTTTAAGTTTTATTGAAAATGCTGCATTGTTAATAACATCCTCTTAAGGAAATTTTTATTTTGGTGTTTTGGTTTTGAGAAGTATCTGTGGCAAAACTAATGGCAGTATGATAAATGTTGCCTGTGTCAGTTAACTTTCAGAATTTACCGTGTGTGTGAAATACTCATATTCATTATAAATAAATGGATTAATCTCTATGGCCCTTTGGCTACATAAAACAAAAAAATCTGCCATGTGCTCAGAGTTCAGAAAAAGCTATTCTTGTGTGGTAATCTTTTAACAATCAGGTTTTTAATACTCTCCTTTAACACAAGACTGCTAAATGATCAGCTTCTCAAATTAGTGTATCATAACGCATGACAGAAAATCATTAAATGGAATCACTAATGAGGAAAGGCATTGCTGATTTTTATACCTTAATCACTTGACATTGTTCATCTTTATAAGAGGGCTAAATATTACTTACTACCTCTGACTAGGAATACTGTTAAATTGTATTACTGTGCTGATATGCAAGAAATTCTGTCCAAATACAGAACTTATTTAAATTATTAAAAACATATGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCCAAAACAAAACATACTATTGTTATCACTGCAGTGTAACCATGACGTCCTATTATTATTTTATTTTTCAAAATCAAGAAATGCAAGTGGCGCCATTCTTCTTGAGTGGCTATTTGATCATATAAAAATCACTTCCTGCCAGTTTATGATCTCTATTGCACTGTAACTTATTTGTAAAGTAGATGGAAACATTTTAGATTAAATTATGAAGTAATTTTCCCTTATATAGGCTGCTTTCTTGCTGTCTTTAGGGATCCCTAATAAAATCAGCTATGAGGACAACAAGGTGAAGAATGAAACCAATTTACCTTCACAATCATCTAAAGGTAACTACCATGAAGTTGTGTTCCTAAATACATATTCACCTGGCTGTGAAGACTTACCTGCGGAGGGAGTTGCCAGAGATAGTTCTGATGGGGGAAAGCTAGTCTGAAAGGTAAACTGCAGCCTAAGGGAGTTACTTCAATAGGCCAGTTTCCTGACAAAGGTCGAATCCTTTCTCATCAGAATTTAAAAATTATAGAACATACCATACCTTTATATATAAATCATAAACATCAGTAAAGAAGTTCTTTATTCCATCTTCTTGTCTTATGTCATGAAGCATAATAAACCTCATATGTGAAATAATTAAGGCATAATCTTTCTTAGAAATGAAAAACAAAAAGCAACCAGTTCGTTGATACAGTATTCTTCAAATTAGTCACATGCAGTGTATTTGTGATGGAAAAGTTGAATATATAAACTGGGTTTAAAATTAGCTTAGTTTTATCATAAAGAGAACATAAGCTTTCAAAGTTAGAAAATAACTGTAAAATAAAGTAAAATCACCCTTGATAGGGTCCAGATAAACTCTTTTTGTGTATGAGACTTAGTTTTAAAATTAGCTATTAAACAAAATGTTTTTCCCCCCTAAAAAAAGAAAAGTAGCCCCATAAATGGAAACTTACATTTTCACCTGACTGTGAAGTCTACAGACTCAGAGCCTGGCATCTATGTTCCATGTTCTTCTGGTTTGTGAGCCCAAACTTTAGTTAGTTACCTTTACTAAGAAGGTAAGGATATGCCCCGCAGTGACAAATGCCGACACAAACCACTCGTTGAACTTGTCCAGTTTTCAAGTACATGTTGTTCGATAGCCACATGTTCTCATCTACGAGGTCGAGAGCAGCATGAGCTATGAACTGGTTCAGATGACGATGGTCGTCCTAGATGACAGTGTGAGCAACCACAGATTAACATTTGCATATGGCATCGAGAATGCTGACATTTCATTCTGTAAATTCTATAGATGGTTTTCTTGTGGGGAAAAAACAGTTTGCTTTTATACTTTGTTATTGTCATGAGACTTATAAAAGATCTGTTTTCATATTATATTCTATTTTTAAATTTGATATCTACATCTCAACAGAAACAGCCAATTAATAAATGAAATGTGTATATAGAGGATTTATACAAAATCATTTATTGAAAATCTTTTTCATATAAATTTTTTTTCATGTTTCAAGAAGGAAGTTACCGAATTCTGTAACCATCTAAACATGTAAAAAAAGGATACTATGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGATCCTGTGGAGAAGAGGTGCCATTCACACTAGGCCTCAAGGTCTGGGAGGAAACTGAGAGGGCGGGGCTTCCTGCACAGTGGCACCAGGTAAGCAGTAGAGACAGTTGAAATGGCGCTTATAACGGCCTGCCAGAGGCCTCTTTCCAGTGCATGGAGCTTACATGACAGCGGGACCTAGGAGTAGTGGGAGGTGATGCTCAGCCCCAGCTGTGAGCAGTCGCCTGTGTCAATAGCAGGACACAGTCCTGTCAGAGCTGGGAGTGTCCTTTTCCTGGGCTGAAATGGCTTAAGTGAACAGAAGGTGGGACTGTCTGACCATAATGTGAAGACGGAATTCAGAACTTGGAATGCAGTCTTACTCCAATGTAGTTCTTTGAAAATACATTTTTTGGCCAGGCGCGGTGGCTTATGCTTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAATATGGTGAAATCCCATCTCTACTAATACAAAAATTGGCCGGCTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAAACTCCGTCTCAAAAAAACCCAAGCCATTTTTCAAAGAATACCTGTTATGGGTTGAAGTGTTTCCTCTCTAAAATTCCTTTGTTGAAGTCCTAAGCAACAGTACCTCAGAATGTGGCCTTATATGGAAAGAGGGTTGTTGCAGATGTGGTTAGCTAAGATGAGGTCACACTGGAGTAGGGTGGGCCCCTAATCCAATGGACTGGTGTATTTAGAAAAAGGGAACATTTAGAGATGCACACAGGGAGAAAAATGCCACATGAAGACTGGAGTTATGCTGCCACAAGCCAAGGAACTCCCAGAAGCTGGGAGAGAGGCCTGGACAGACCCTTGTCTTTGTGCCTTCATAGGGAGCATGGCCCCACTGACACCTTGATTTCAGATGGTGGCCCTCAGAACTGAGACAATAAATTTCTGCTGTCCCAAGCCACTCAGTTTTTCGTACTTTGTTACAACAGCCATAGGAAACTGAGACGGCTTCCTTGCCAAGGAGGCTGTTCTCATGCCTGGGCTGGAGGAGGGCGGCCCGTTGCCGTGGAATCCCATGCATAGTTAAAGCATGTTTTACTTCACTCATGTTGCCATGACAAAGCTAAGTGAATCCTTAGAGAAATGGATGTTTTTGTGTCTGGCTCACAGCAGTGTTTTCTTTTACAATGATGATCAATCCTGAAGAATTAGGAGCAAACTGAAAACGCTTTAAGAAAGTGAGTGGTAGCAGGAGAAAGAACTAAAATCAAGTTATGCAACAAAGTATTTTTATGTGTGCTTTGTCCAACACAAGGGCAGTGGAGTGCACAGAAATTACATACAAGTAGCTGCATCCCACAAAGCAGTACTGGTACAGAGATACCTCAAAAACAAGTTTTAATGAGTAGTGTTCTCATAATATGAGAAAATNN
|
pathogenic
| 329,847 |
Is the genetic variant on chromosome X, position 13739016, gene OFD1 (OFD1 centriole and centriolar satellite protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_10', 'Orofaciodigital_syndrome_I', 'Retinitis_pigmentosa_23', 'Simpson-Golabi-Behmel_syndrome_type_2']
|
GACTCTGCCAATCTGCTGAATGTCTGCTGTAAGCTTGGCACTGTGATAGGCACACTGCAGATGTTTTGTGTGTTACGGATGAGGAACCAGACTCTGGAGAGGTGAATCAATTTGCCCAACATCAAGTAACTTTTAAGTGACAATGCAGGGTGGTAAATCTAGATCTCTAACATGAGCTCTTTTTTTCCTGCACTAGTTTCTTCAGATGTTTCTCTTTGTAATTAGATAAGTGAGAAATACGTAATTTAAAAAATCTGTAAAGTTCTCAAATATTAAAAACACTTGTTTTTTTTTTTTACTACTTTTCTAATTATTTTAACTATATTTCTTCACCATTACTGTTGAACATTAGTACTACTTTATTATTTTAAAGGCAGATACAGCAGACTTTCCCTGTGGATATGTGCGTGTTTTTTTTTTTTTAATAGACTTTATTTTTTCAGAGCAGTTTTGGGTTCACAGCAAAGTTAAGTGGGAAGTACAGAGAATTCCCATATACCTGCTGCCCCTACACACTCATAGCCTCCCCCACTGTCAACATCTTGCATCAAGGTGGTACATTTGCTACAATCTATAAGCCTACCCTGACATGTCATTATCACCCAGAGGCCATAGTTTACAGTGAAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAATAAAATAAATTTCACTCTTGGTGGTGTTCATATGTTTTTACTTTCTTTGTGTTTTCTGTAATTATCCAAAAGTTTCATATTCCAAAGTTTTAGTGACACAAGCTTAGTACAGTATTTGAATGAAAACTTAAATAATTTGCATTTCTTCATAAGCAACCAAATTTTATTTGTCAGCATTAGGAATTTATTTATTAATTTATGTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGTCTGGAGTGCAATGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCTGGCTAACTTTTTTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATCCTGACCCCAGGTGATCTGCCCACCTCAATCTCCCAAAGAGCTGGGATAACAAGCATGAGCCCTCGTGTCTGGCCTGGAATTCATTTTTGATACATCATTCTCTAACTTTCTAATCACTTTATACTTTTACTTATTGTGTAATAGTCAATAATACAATTATATAGCAGGAATTAATCCTATTCATACAACTTAACGGTTTCTACTAATGTAAAATGCCCATGCAGAATATTTACTTTAAAGGAAAACCAATTGAAAACAAATATCAGTGTTCTCAGAGCAGACATAGTGAATGGTATATACTGTAGTAGAAATATATTTTAATAGCTACCCAAAATGTCTGTTAAACAATATTTTAAGTACACTTTAATTACGGTTTTAAGGACAGTAAAAATCTATTTACATTTTTAAACAATGAATACTTTTTAAAAAATTGTAATTGAATGACCCAGGAACTCAGTCATGTAGTCATTGGTTCATCAGATATTTCAGTGTCATCTGTAAGGCATTAAACATTTAGGCATATCATCTTTGATGTGAAGTACTTAGAAGTTAATTAGATGATAAAGATATTTTATCCTTTTGACCTTGATATGTTTATAGTAATTTATTTAACAGTGTAAGAAAGAGCTTGAAATTTGCTTTATTAGCATAGTTATAATCTTATTTAATCTGAAGGATGTTTCTTAATTTCATATTCAGAAACATATCCTAATTTATCATTTAAACACTGATATAAAAATATGTCTACTTAGTAACCTATTTTTTCTTAAGGTATTTACTATGCAGGATCTATTACAACTCATTAAAATCAACCCTACTTCCAGTCTCTACAAATCACTGGTAAGATGGCTTAGTTTCTGTAATCTACTTTGGTTTGTTAATTATAACTGAATAGCTGAATAAAAGTGAAATATTTTCTTTTAACAGGTTTCAGGATCTGATAAAGAAAATCAAAAAGGTAGGAGCCGTCATCTTTGTAGAGAACAGCAACAGTTTTCTATGTACTTTTTCCTCTAAAAGAATGAAGCAAATTTTTAGGGAGAAGAGTAAAATTTAATTTGATTTAAATTATTTGATTTCTGCAGGTCATTTCCCCTATATTTCCATTTTTGTAATAACTTTTAGATATTCAATTAAAAAAACTGTAGACAGTATCAAAGGCCCTACAGACAGGCTGAAAGATACTGTTTGTAAAAATACCCACTGTTGGGAATATTTCTGCAAAAAAAAAAAAAAAAAACTAATAACTTTTAGGCCAAGTGTCTTTGTATACTAGGTATCCCTCTCAAGTATAATTGGTAGGGTATTAGATGTATTAATATTTCCTTAAAGAATGAGAGTTGTGTTCAGTAATGTGTTATATATCTTTTGTTCTTAAATGTTTATACAGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCGGGAGTTCGAGATCAGCCTGACCAACCTGGAGAAACCCCGTTTCTACTAAAAATACAAAAAAATTAGCTAGGCGTAGTGGCGCATGCTTGTAATCACAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGCAGAGGTTGCGGTGAGCTGAGATCACGCCATTGCACTCCTGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATGTTTATATAGACCTAATAAATTGCCTTAATTTTGGCCTTGATAATAGCCATTCATAGAGTCCATAACTACTGTGGGTTTCAGGCCATTGGTTAGACTTGATGATGGGCTTTGTAGCATGAACATAAGCTGGCAACTTGGCTTTGATGCATAGTTATTCTTTAGGTCTTTTAAAATAATCTGTTAGTAATAGTCCTTTTGTGTTGGTACACCCTTGGATTTTGTCTGTTGCCTGCACTATCATCCCCACAAGGACATTCATTTATTCATCCATTCATTCGCCAATTCATTTAGAACTTAATCATTTGAATACTTATTTTCTGCCAGCCATTAAGTCTGTGACTTAATCGCCAAGTCTCTTGGTAGTAATGTTAGCAGAATATAAATAAATTGGAGCACAAGATATTCTGGACTGCCCGCAAACTAGACCATCTCTACTGAAGTTCAGTATGGTAAATGATCCTATATTCTGTACTCTAAGTGTCGTCCAGTGTGACTCTCTGTGATTATGGAAATGTCTGTGTCTATGCTGTTTAATGTGGTAGCTGCTATCCTCATGTGGCTTTTGAGCCTTGAAATGTGGCTAGTGTGACTGGATAACTGAATTTTTAATTTACATTTAATTAGCTACACTTGCATAGTGACTACCATATTAGCATAATTCTGAGGTATATAGCTAGTATCTTTTGCTTAACTATTACTTCAAAAGGAAATTTGTGGCTTGAAGGGATATTAAGAAATAATCTATGGGCCAGGCACGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGGCAAACCTGGCTGATCACTTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGAGAGGCGAAGGTTGCGGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGGTGACAGAGCTGGACTCCATCTCAAAAAAAAAAAAAAAATCTATGTAGTTACTATAGATACATTATCCTTAAAAGTAGTTTTTCCATGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCGGGAGAGCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAAAAAGTTAGCCAGGCCTGGTGGCGTGCACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGGGAATCGCTTGAACC
|
GACTCTGCCAATCTGCTGAATGTCTGCTGTAAGCTTGGCACTGTGATAGGCACACTGCAGATGTTTTGTGTGTTACGGATGAGGAACCAGACTCTGGAGAGGTGAATCAATTTGCCCAACATCAAGTAACTTTTAAGTGACAATGCAGGGTGGTAAATCTAGATCTCTAACATGAGCTCTTTTTTTCCTGCACTAGTTTCTTCAGATGTTTCTCTTTGTAATTAGATAAGTGAGAAATACGTAATTTAAAAAATCTGTAAAGTTCTCAAATATTAAAAACACTTGTTTTTTTTTTTTACTACTTTTCTAATTATTTTAACTATATTTCTTCACCATTACTGTTGAACATTAGTACTACTTTATTATTTTAAAGGCAGATACAGCAGACTTTCCCTGTGGATATGTGCGTGTTTTTTTTTTTTTAATAGACTTTATTTTTTCAGAGCAGTTTTGGGTTCACAGCAAAGTTAAGTGGGAAGTACAGAGAATTCCCATATACCTGCTGCCCCTACACACTCATAGCCTCCCCCACTGTCAACATCTTGCATCAAGGTGGTACATTTGCTACAATCTATAAGCCTACCCTGACATGTCATTATCACCCAGAGGCCATAGTTTACAGTGAAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAATAAAATAAATTTCACTCTTGGTGGTGTTCATATGTTTTTACTTTCTTTGTGTTTTCTGTAATTATCCAAAAGTTTCATATTCCAAAGTTTTAGTGACACAAGCTTAGTACAGTATTTGAATGAAAACTTAAATAATTTGCATTTCTTCATAAGCAACCAAATTTTATTTGTCAGCATTAGGAATTTATTTATTAATTTATGTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGTCTGGAGTGCAATGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCTGGCTAACTTTTTTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATCCTGACCCCAGGTGATCTGCCCACCTCAATCTCCCAAAGAGCTGGGATAACAAGCATGAGCCCTCGTGTCTGGCCTGGAATTCATTTTTGATACATCATTCTCTAACTTTCTAATCACTTTATACTTTTACTTATTGTGTAATAGTCAATAATACAATTATATAGCAGGAATTAATCCTATTCATACAACTTAACGGTTTCTACTAATGTAAAATGCCCATGCAGAATATTTACTTTAAAGGAAAACCAATTGAAAACAAATATCAGTGTTCTCAGAGCAGACATAGTGAATGGTATATACTGTAGTAGAAATATATTTTAATAGCTACCCAAAATGTCTGTTAAACAATATTTTAAGTACACTTTAATTACGGTTTTAAGGACAGTAAAAATCTATTTACATTTTTAAACAATGAATACTTTTTAAAAAATTGTAATTGAATGACCCAGGAACTCAGTCATGTAGTCATTGGTTCATCAGATATTTCAGTGTCATCTGTAAGGCATTAAACATTTAGGCATATCATCTTTGATGTGAAGTACTTAGAAGTTAATTAGATGATAAAGATATTTTATCCTTTTGACCTTGATATGTTTATAGTAATTTATTTAACAGTGTAAGAAAGAGCTTGAAATTTGCTTTATTAGCATAGTTATAATCTTATTTAATCTGAAGGATGTTTCTTAATTTCATATTCAGAAACATATCCTAATTTATCATTTAAACACTGATATAAAAATATGTCTACTTAGTAACCTATTTTTTCTTAAGGTATTTACTATGCAGGATCTATTACAACTCATTAAAATCAACCCTACTTCCAGTCTCTACAAATCACTGGTAAGATGGCTTAGTTTCTGTAATCTACTTTGGTTTGTTAATTATAACTGAATAGCTGAATAAAAGTGAAATATTTTCTTTTAACAGGTTTCAGGATCTGATAAAATCAAAAAGGTAGGAGCCGTCATCTTTGTAGAGAACAGCAACAGTTTTCTATGTACTTTTTCCTCTAAAAGAATGAAGCAAATTTTTAGGGAGAAGAGTAAAATTTAATTTGATTTAAATTATTTGATTTCTGCAGGTCATTTCCCCTATATTTCCATTTTTGTAATAACTTTTAGATATTCAATTAAAAAAACTGTAGACAGTATCAAAGGCCCTACAGACAGGCTGAAAGATACTGTTTGTAAAAATACCCACTGTTGGGAATATTTCTGCAAAAAAAAAAAAAAAAAACTAATAACTTTTAGGCCAAGTGTCTTTGTATACTAGGTATCCCTCTCAAGTATAATTGGTAGGGTATTAGATGTATTAATATTTCCTTAAAGAATGAGAGTTGTGTTCAGTAATGTGTTATATATCTTTTGTTCTTAAATGTTTATACAGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCGGGAGTTCGAGATCAGCCTGACCAACCTGGAGAAACCCCGTTTCTACTAAAAATACAAAAAAATTAGCTAGGCGTAGTGGCGCATGCTTGTAATCACAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGCAGAGGTTGCGGTGAGCTGAGATCACGCCATTGCACTCCTGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATGTTTATATAGACCTAATAAATTGCCTTAATTTTGGCCTTGATAATAGCCATTCATAGAGTCCATAACTACTGTGGGTTTCAGGCCATTGGTTAGACTTGATGATGGGCTTTGTAGCATGAACATAAGCTGGCAACTTGGCTTTGATGCATAGTTATTCTTTAGGTCTTTTAAAATAATCTGTTAGTAATAGTCCTTTTGTGTTGGTACACCCTTGGATTTTGTCTGTTGCCTGCACTATCATCCCCACAAGGACATTCATTTATTCATCCATTCATTCGCCAATTCATTTAGAACTTAATCATTTGAATACTTATTTTCTGCCAGCCATTAAGTCTGTGACTTAATCGCCAAGTCTCTTGGTAGTAATGTTAGCAGAATATAAATAAATTGGAGCACAAGATATTCTGGACTGCCCGCAAACTAGACCATCTCTACTGAAGTTCAGTATGGTAAATGATCCTATATTCTGTACTCTAAGTGTCGTCCAGTGTGACTCTCTGTGATTATGGAAATGTCTGTGTCTATGCTGTTTAATGTGGTAGCTGCTATCCTCATGTGGCTTTTGAGCCTTGAAATGTGGCTAGTGTGACTGGATAACTGAATTTTTAATTTACATTTAATTAGCTACACTTGCATAGTGACTACCATATTAGCATAATTCTGAGGTATATAGCTAGTATCTTTTGCTTAACTATTACTTCAAAAGGAAATTTGTGGCTTGAAGGGATATTAAGAAATAATCTATGGGCCAGGCACGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGGCAAACCTGGCTGATCACTTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGAGAGGCGAAGGTTGCGGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGGTGACAGAGCTGGACTCCATCTCAAAAAAAAAAAAAAAATCTATGTAGTTACTATAGATACATTATCCTTAAAAGTAGTTTTTCCATGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCGGGAGAGCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAAAAAGTTAGCCAGGCCTGGTGGCGTGCACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGGGAATCGCTTGAACCNNNN
|
pathogenic
| 329,868 |
Gene mutation in OFD1 (OFD1 centriole and centriolar satellite protein) at chromosome X, position 13744427—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Orofaciodigital_syndrome_I']
|
ATAAAACTTCCAGATGAGAACAGTAGAAAGTCTGTGATCTTGGGTTTCGTGATGAGATGTAACACCAAGAGCAAGATACATGAAAGAAAAAAGTAGATCAGTTAGACTTTATTAAAATTAAAAACATCTCTGTGAAAGACACTGTTCTTTTTGTTTTGTTTTTGAGACGGAGTTTCACTCTGCCACCCAGGCTGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTGTGTTTTCAATAGAGATGGGGTTCACCATGTTGATCAGGCTGGTCTCGATCCCCTGACCTCAGGTGATCGCCTGCCTCAGCCTCCCAGAGTGCTGGGATGACAAGCGTGAGCCACTGTACCCTGCCAAAAGACGCTGTTAAGAGAATGAAAGACCCAGTGTCGAAACCCATAGAGCTTTACGTCATCAAGAGTGAACCTTAATGTTTGCAAATTTAGGTCAGGTGATCCCAGGATGGTATGCAGACTGTGACAAAATCTAATCCCCTTCCTGAAGGGAGTGGGGGTGGGGGAAAAGGTGCTGAGCTAACTACTGTTTTTAGTTCCAAGAAACTAAACATTTCTTAAGTAATTTATGCTTGTGGTTTAAAACAGTTTCAAACTATTCAGAAGGATATAAAGTGAAAGCAAAGTAGCAGTTTCTGCCCATGTTCTCTAATCTCACGCTCCACTGATAACTAGAATTAACAGTTTCACTCCACTGATAACTAGAATTAACAGTTTCTTGTTTATCTTCTAGAATTGTTTGAGGTTAAAACTATGTATTTGTAATTAAAACACAATCAATTGGGATTATATCGTAGATACTGTATGCAATTTGCTTTTTTTAATCCACCAATGTATCTTTCTGTAGCAGTATAGACTAATTATTTTTAAATAATGTATTTAACCCCCTATTGATGGAGATCTGGTTGTTTTATTGTTTGCTTTTTGCCATTACAGGTAACCTATGTGCAGTGTGCACCCTTTGTGCCCTTGTGAAAGTATACCTGTGTAAATTCATAGAAGTGGAATGACTAGATTAAAGGGCACATGCATTTCGAATATATATAAGCACTGACAAATTTCTCTTCCAAGTGAATGAGTATAGCTATATATCCACTCCCTTGCCAACACTTAGCATTATACAAGTTTTAATCTTAGCAGTGTTATAGGGAAAATAATGGTTTCTCTGTTGTATTAATTTGCATTTATGATTTTGTTCATGTTTATTCAGCATCTAAAAATTGTGTTCATCTTTGACAATGTAGTTTTTTCTGCAAACTACCCATGTTTTTCCCCATTTTTCTGATTTTTTTTTTTTAAACTGATTTGTAAGAGTTCTTTGATGTTATGAAAATGTCATCACTTTAGTCTTGGTTATGCCTCCATATTATTGCAACTATTTTTCCCAGTGTGTTATTTTTTTATTTTATGCCATATGTAAGTTTTCAGTTTTTATGTAGTTAGATTGATAAATATTTCTCCTTATTCCTTCCAGGTTCTGTATCATGCTTGGGAAGGCCTTTTCTCAGATTTATTAAAAGATATGACTGGGCACAGTGGCTCATGCTTGTGATCCCAGCACTTTGGGAGGCCCAGGCAGGAGGATTGCTTGAGGCCATGAGTTTGAGACTAGCCTGGGCAACATAGCAAGACCCTGTTTATACAAAAAGTAAAATTAGCTGGGCGTGGTGGGTGGTGGTGTGCACCTCTAGTCCCAGCTACTTGGGAGACTGATGTAGGAGGATTGCTTGAGCCCAGGAGGTCGAGGCCGCAGTGAGCCATGATTACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTTTGTCTCTAAAAAAAAGGAAAGATATATAATGTAAAAAATGATAATGTCCTAAAACTAAGATTGTAAAAACAGTGACTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAGTGCTCTCCAGTGTCATTCCCTAGCCTCATGAATGCCAGGGCTACACTGGCCAAATCATGCAGGGATTCAAAGGCCCATATTCTTCCTTGTTTGTTGAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTAC
|
ATAAAACTTCCAGATGAGAACAGTAGAAAGTCTGTGATCTTGGGTTTCGTGATGAGATGTAACACCAAGAGCAAGATACATGAAAGAAAAAAGTAGATCAGTTAGACTTTATTAAAATTAAAAACATCTCTGTGAAAGACACTGTTCTTTTTGTTTTGTTTTTGAGACGGAGTTTCACTCTGCCACCCAGGCTGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTGTGTTTTCAATAGAGATGGGGTTCACCATGTTGATCAGGCTGGTCTCGATCCCCTGACCTCAGGTGATCGCCTGCCTCAGCCTCCCAGAGTGCTGGGATGACAAGCGTGAGCCACTGTACCCTGCCAAAAGACGCTGTTAAGAGAATGAAAGACCCAGTGTCGAAACCCATAGAGCTTTACGTCATCAAGAGTGAACCTTAATGTTTGCAAATTTAGGTCAGGTGATCCCAGGATGGTATGCAGACTGTGACAAAATCTAATCCCCTTCCTGAAGGGAGTGGGGGTGGGGGAAAAGGTGCTGAGCTAACTACTGTTTTTAGTTCCAAGAAACTAAACATTTCTTAAGTAATTTATGCTTGTGGTTTAAAACAGTTTCAAACTATTCAGAAGGATATAAAGTGAAAGCAAAGTAGCAGTTTCTGCCCATGTTCTCTAATCTCACGCTCCACTGATAACTAGAATTAACAGTTTCACTCCACTGATAACTAGAATTAACAGTTTCTTGTTTATCTTCTAGAATTGTTTGAGGTTAAAACTATGTATTTGTAATTAAAACACAATCAATTGGGATTATATCGTAGATACTGTATGCAATTTGCTTTTTTTAATCCACCAATGTATCTTTCTGTAGCAGTATAGACTAATTATTTTTAAATAATGTATTTAACCCCCTATTGATGGAGATCTGGTTGTTTTATTGTTTGCTTTTTGCCATTACAGGTAACCTATGTGCAGTGTGCACCCTTTGTGCCCTTGTGAAAGTATACCTGTGTAAATTCATAGAAGTGGAATGACTAGATTAAAGGGCACATGCATTTCGAATATATATAAGCACTGACAAATTTCTCTTCCAAGTGAATGAGTATAGCTATATATCCACTCCCTTGCCAACACTTAGCATTATACAAGTTTTAATCTTAGCAGTGTTATAGGGAAAATAATGGTTTCTCTGTTGTATTAATTTGCATTTATGATTTTGTTCATGTTTATTCAGCATCTAAAAATTGTGTTCATCTTTGACAATGTAGTTTTTTCTGCAAACTACCCATGTTTTTCCCCATTTTTCTGATTTTTTTTTTTTAAACTGATTTGTAAGAGTTCTTTGATGTTATGAAAATGTCATCACTTTAGTCTTGGTTATGCCTCCATATTATTGCAACTATTTTTCCCAGTGTGTTATTTTTTTATTTTATGCCATATGTAAGTTTTCAGTTTTTATGTAGTTAGATTGATAAATATTTCTCCTTATTCCTTCCAGGTTCTGTATCATGCTTGGGAAGGCCTTTTCTCAGATTTATTAAAAGATATGACTGGGCACAGTGGCTCATGCTTGTGATCCCAGCACTTTGGGAGGCCCAGGCAGGAGGATTGCTTGAGGCCATGAGTTTGAGACTAGCCTGGGCAACATAGCAAGACCCTGTTTATACAAAAAGTAAAATTAGCTGGGCGTGGTGGGTGGTGGTGTGCACCTCTAGTCCCAGCTACTTGGGAGACTGATGTAGGAGGATTGCTTGAGCCCAGGAGGTCGAGGCCGCAGTGAGCCATGATTACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTTTGTCTCTAAAAAAAAGGAAAGATATATAATGTAAAAAATGATAATGTCCTAAAACTAAGATTGTAAAAACAGTGACTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAGTGCTCTCCAGTGTCATTCCCTAGCCTCATGAATGCCAGGGCTACACTGGCCAAATCATGCAGGGATTCAAAGGCCCATATTCTTCCTTGTTTGTTGAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTA
|
pathogenic
| 329,871 |
Located at chromosome X position 13744532, the variant affecting gene OFD1 (OFD1 centriole and centriolar satellite protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
ACTTTATTAAAATTAAAAACATCTCTGTGAAAGACACTGTTCTTTTTGTTTTGTTTTTGAGACGGAGTTTCACTCTGCCACCCAGGCTGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTGTGTTTTCAATAGAGATGGGGTTCACCATGTTGATCAGGCTGGTCTCGATCCCCTGACCTCAGGTGATCGCCTGCCTCAGCCTCCCAGAGTGCTGGGATGACAAGCGTGAGCCACTGTACCCTGCCAAAAGACGCTGTTAAGAGAATGAAAGACCCAGTGTCGAAACCCATAGAGCTTTACGTCATCAAGAGTGAACCTTAATGTTTGCAAATTTAGGTCAGGTGATCCCAGGATGGTATGCAGACTGTGACAAAATCTAATCCCCTTCCTGAAGGGAGTGGGGGTGGGGGAAAAGGTGCTGAGCTAACTACTGTTTTTAGTTCCAAGAAACTAAACATTTCTTAAGTAATTTATGCTTGTGGTTTAAAACAGTTTCAAACTATTCAGAAGGATATAAAGTGAAAGCAAAGTAGCAGTTTCTGCCCATGTTCTCTAATCTCACGCTCCACTGATAACTAGAATTAACAGTTTCACTCCACTGATAACTAGAATTAACAGTTTCTTGTTTATCTTCTAGAATTGTTTGAGGTTAAAACTATGTATTTGTAATTAAAACACAATCAATTGGGATTATATCGTAGATACTGTATGCAATTTGCTTTTTTTAATCCACCAATGTATCTTTCTGTAGCAGTATAGACTAATTATTTTTAAATAATGTATTTAACCCCCTATTGATGGAGATCTGGTTGTTTTATTGTTTGCTTTTTGCCATTACAGGTAACCTATGTGCAGTGTGCACCCTTTGTGCCCTTGTGAAAGTATACCTGTGTAAATTCATAGAAGTGGAATGACTAGATTAAAGGGCACATGCATTTCGAATATATATAAGCACTGACAAATTTCTCTTCCAAGTGAATGAGTATAGCTATATATCCACTCCCTTGCCAACACTTAGCATTATACAAGTTTTAATCTTAGCAGTGTTATAGGGAAAATAATGGTTTCTCTGTTGTATTAATTTGCATTTATGATTTTGTTCATGTTTATTCAGCATCTAAAAATTGTGTTCATCTTTGACAATGTAGTTTTTTCTGCAAACTACCCATGTTTTTCCCCATTTTTCTGATTTTTTTTTTTTAAACTGATTTGTAAGAGTTCTTTGATGTTATGAAAATGTCATCACTTTAGTCTTGGTTATGCCTCCATATTATTGCAACTATTTTTCCCAGTGTGTTATTTTTTTATTTTATGCCATATGTAAGTTTTCAGTTTTTATGTAGTTAGATTGATAAATATTTCTCCTTATTCCTTCCAGGTTCTGTATCATGCTTGGGAAGGCCTTTTCTCAGATTTATTAAAAGATATGACTGGGCACAGTGGCTCATGCTTGTGATCCCAGCACTTTGGGAGGCCCAGGCAGGAGGATTGCTTGAGGCCATGAGTTTGAGACTAGCCTGGGCAACATAGCAAGACCCTGTTTATACAAAAAGTAAAATTAGCTGGGCGTGGTGGGTGGTGGTGTGCACCTCTAGTCCCAGCTACTTGGGAGACTGATGTAGGAGGATTGCTTGAGCCCAGGAGGTCGAGGCCGCAGTGAGCCATGATTACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTTTGTCTCTAAAAAAAAGGAAAGATATATAATGTAAAAAATGATAATGTCCTAAAACTAAGATTGTAAAAACAGTGACTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAGTGCTCTCCAGTGTCATTCCCTAGCCTCATGAATGCCAGGGCTACACTGGCCAAATCATGCAGGGATTCAAAGGCCCATATTCTTCCTTGTTTGTTGAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTG
|
ACTTTATTAAAATTAAAAACATCTCTGTGAAAGACACTGTTCTTTTTGTTTTGTTTTTGAGACGGAGTTTCACTCTGCCACCCAGGCTGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTGTGTTTTCAATAGAGATGGGGTTCACCATGTTGATCAGGCTGGTCTCGATCCCCTGACCTCAGGTGATCGCCTGCCTCAGCCTCCCAGAGTGCTGGGATGACAAGCGTGAGCCACTGTACCCTGCCAAAAGACGCTGTTAAGAGAATGAAAGACCCAGTGTCGAAACCCATAGAGCTTTACGTCATCAAGAGTGAACCTTAATGTTTGCAAATTTAGGTCAGGTGATCCCAGGATGGTATGCAGACTGTGACAAAATCTAATCCCCTTCCTGAAGGGAGTGGGGGTGGGGGAAAAGGTGCTGAGCTAACTACTGTTTTTAGTTCCAAGAAACTAAACATTTCTTAAGTAATTTATGCTTGTGGTTTAAAACAGTTTCAAACTATTCAGAAGGATATAAAGTGAAAGCAAAGTAGCAGTTTCTGCCCATGTTCTCTAATCTCACGCTCCACTGATAACTAGAATTAACAGTTTCACTCCACTGATAACTAGAATTAACAGTTTCTTGTTTATCTTCTAGAATTGTTTGAGGTTAAAACTATGTATTTGTAATTAAAACACAATCAATTGGGATTATATCGTAGATACTGTATGCAATTTGCTTTTTTTAATCCACCAATGTATCTTTCTGTAGCAGTATAGACTAATTATTTTTAAATAATGTATTTAACCCCCTATTGATGGAGATCTGGTTGTTTTATTGTTTGCTTTTTGCCATTACAGGTAACCTATGTGCAGTGTGCACCCTTTGTGCCCTTGTGAAAGTATACCTGTGTAAATTCATAGAAGTGGAATGACTAGATTAAAGGGCACATGCATTTCGAATATATATAAGCACTGACAAATTTCTCTTCCAAGTGAATGAGTATAGCTATATATCCACTCCCTTGCCAACACTTAGCATTATACAAGTTTTAATCTTAGCAGTGTTATAGGGAAAATAATGGTTTCTCTGTTGTATTAATTTGCATTTATGATTTTGTTCATGTTTATTCAGCATCTAAAAATTGTGTTCATCTTTGACAATGTAGTTTTTTCTGCAAACTACCCATGTTTTTCCCCATTTTTCTGATTTTTTTTTTTTAAACTGATTTGTAAGAGTTCTTTGATGTTATGAAAATGTCATCACTTTAGTCTTGGTTATGCCTCCATATTATTGCAACTATTTTTCCCAGTGTGTTATTTTTTTATTTTATGCCATATGTAAGTTTTCAGTTTTTATGTAGTTAGATTGATAAATATTTCTCCTTATTCCTTCCAGGTTCTGTATCATGCTTGGGAAGGCCTTTTCTCAGATTTATTAAAAGATATGACTGGGCACAGTGGCTCATGCTTGTGATCCCAGCACTTTGGGAGGCCCAGGCAGGAGGATTGCTTGAGGCCATGAGTTTGAGACTAGCCTGGGCAACATAGCAAGACCCTGTTTATACAAAAAGTAAAATTAGCTGGGCGTGGTGGGTGGTGGTGTGCACCTCTAGTCCCAGCTACTTGGGAGACTGATGTAGGAGGATTGCTTGAGCCCAGGAGGTCGAGGCCGCAGTGAGCCATGATTACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTTTGTCTCTAAAAAAAAGGAAAGATATATAATGTAAAAAATGATAATGTCCTAAAACTAAGATTGTAAAAACAGTGACTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCGCCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAGTGCTCTCCAGTGTCATTCCCTAGCCTCATGAATGCCAGGGCTACACTGGCCAAATCATGCAGGGATTCAAAGGCCCATATTCTTCCTTGTTTGTTGAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTG
|
benign
| 329,876 |
Variant at chromosome position 13746337, chromosome X, gene OFD1 (OFD1 centriole and centriolar satellite protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Joubert_syndrome_10']
|
GTCTCTAAAAAAAAGGAAAGATATATAATGTAAAAAATGATAATGTCCTAAAACTAAGATTGTAAAAACAGTGACTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAGTGCTCTCCAGTGTCATTCCCTAGCCTCATGAATGCCAGGGCTACACTGGCCAAATCATGCAGGGATTCAAAGGCCCATATTCTTCCTTGTTTGTTGAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTGCAAATTTTTTTTTATTTCTGGTGACATTTGTTTATGCCTTTTGAGTGAATCCTACAAATAGAGTGAATGAGATAAAACTAACATGAAATAAATATATTTGGACAGAGCATTAATGTTAAACCTAGATGTAGAGAGAGAACTTGTTCCTGTTTTTATAGTATAATAGTTGGTATTTTTAATTTTTTGTGATCAATTTGCAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAGTATGAAAAGGAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGGTGGCTATTTCCTGCAGCTATTAGTAGGTTGGCTCGAGATCCAGCAACAGGATGGTACAGTTGATGGAACAAGGCCCCAGAAGAGCAATAGGGACTGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACC
|
GTCTCTAAAAAAAAGGAAAGATATATAATGTAAAAAATGATAATGTCCTAAAACTAAGATTGTAAAAACAGTGACTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAGTGCTCTCCAGTGTCATTCCCTAGCCTCATGAATGCCAGGGCTACACTGGCCAAATCATGCAGGGATTCAAAGGCCCATATTCTTCCTTGTTTGTTGAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTGCAAATTTTTTTTTATTTCTGGTGACATTTGTTTATGCCTTTTGAGTGAATCCTACAAATAGAGTGAATGAGATAAAACTAACATGAAATAAATATATTTGGACAGAGCATTAATGTTAAACCTAGATGTAGAGAGAGAACTTGTTCCTGTTTTTATAGTATAATAGTTGGTATTTTTAATTTTTTGTGATCAATTTGCAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAGTATGAAAAGGAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGGTGGCTATTTCCTGCAGCTATTAGTAGGTTGGCTCGAGATCCAGCAACAGGATGGTACAGTTGATGGAACAAGGCCCCAGAAGAGCAATAGGGACTGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCNNN
|
pathogenic
| 329,878 |
The chromosome X, position 13746411 genetic variant in gene OFD1 (OFD1 centriole and centriolar satellite protein): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Familial_aplasia_of_the_vermis', 'Orofaciodigital_syndrome_I']
|
CTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAGTGCTCTCCAGTGTCATTCCCTAGCCTCATGAATGCCAGGGCTACACTGGCCAAATCATGCAGGGATTCAAAGGCCCATATTCTTCCTTGTTTGTTGAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTGCAAATTTTTTTTTATTTCTGGTGACATTTGTTTATGCCTTTTGAGTGAATCCTACAAATAGAGTGAATGAGATAAAACTAACATGAAATAAATATATTTGGACAGAGCATTAATGTTAAACCTAGATGTAGAGAGAGAACTTGTTCCTGTTTTTATAGTATAATAGTTGGTATTTTTAATTTTTTGTGATCAATTTGCAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAGTATGAAAAGGAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGGTGGCTATTTCCTGCAGCTATTAGTAGGTTGGCTCGAGATCCAGCAACAGGATGGTACAGTTGATGGAACAAGGCCCCAGAAGAGCAATAGGGACTGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATC
|
CTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAGTGCTCTCCAGTGTCATTCCCTAGCCTCATGAATGCCAGGGCTACACTGGCCAAATCATGCAGGGATTCAAAGGCCCATATTCTTCCTTGTTTGTTGAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTGCAAATTTTTTTTTATTTCTGGTGACATTTGTTTATGCCTTTTGAGTGAATCCTACAAATAGAGTGAATGAGATAAAACTAACATGAAATAAATATATTTGGACAGAGCATTAATGTTAAACCTAGATGTAGAGAGAGAACTTGTTCCTGTTTTTATAGTATAATAGTTGGTATTTTTAATTTTTTGTGATCAATTTGCAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAGTATGAAAAGGAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGGTGGCTATTTCCTGCAGCTATTAGTAGGTTGGCTCGAGATCCAGCAACAGGATGGTACAGTTGATGGAACAAGGCCCCAGAAGAGCAATAGGGACTGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCNN
|
pathogenic
| 329,880 |
Chromosome X, position 13746411, gene OFD1 (OFD1 centriole and centriolar satellite protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Orofaciodigital_syndrome_I']
|
CTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAGTGCTCTCCAGTGTCATTCCCTAGCCTCATGAATGCCAGGGCTACACTGGCCAAATCATGCAGGGATTCAAAGGCCCATATTCTTCCTTGTTTGTTGAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTGCAAATTTTTTTTTATTTCTGGTGACATTTGTTTATGCCTTTTGAGTGAATCCTACAAATAGAGTGAATGAGATAAAACTAACATGAAATAAATATATTTGGACAGAGCATTAATGTTAAACCTAGATGTAGAGAGAGAACTTGTTCCTGTTTTTATAGTATAATAGTTGGTATTTTTAATTTTTTGTGATCAATTTGCAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAGTATGAAAAGGAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGGTGGCTATTTCCTGCAGCTATTAGTAGGTTGGCTCGAGATCCAGCAACAGGATGGTACAGTTGATGGAACAAGGCCCCAGAAGAGCAATAGGGACTGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATC
|
CTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAGTGCTCTCCAGTGTCATTCCCTAGCCTCATGAATGCCAGGGCTACACTGGCCAAATCATGCAGGGATTCAAAGGCCCATATTCTTCCTTGTTTGTTGAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTGCAAATTTTTTTTTATTTCTGGTGACATTTGTTTATGCCTTTTGAGTGAATCCTACAAATAGAGTGAATGAGATAAAACTAACATGAAATAAATATATTTGGACAGAGCATTAATGTTAAACCTAGATGTAGAGAGAGAACTTGTTCCTGTTTTTATAGTATAATAGTTGGTATTTTTAATTTTTTGTGATCAATTTGCAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAGTATGAAAAGGAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGGTGGCTATTTCCTGCAGCTATTAGTAGGTTGGCTCGAGATCCAGCAACAGGATGGTACAGTTGATGGAACAAGGCCCCAGAAGAGCAATAGGGACTGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCNNNN
|
pathogenic
| 329,881 |
Evaluate if the mutation on chromosome X at position 13746826 in OFD1 (OFD1 centriole and centriolar satellite protein) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Joubert_syndrome_10', 'OFD1-related_disorder', 'Orofaciodigital_syndrome_I', 'Retinitis_pigmentosa_23', 'Simpson-Golabi-Behmel_syndrome', 'Simpson-Golabi-Behmel_syndrome_type_2']
|
GAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTGCAAATTTTTTTTTATTTCTGGTGACATTTGTTTATGCCTTTTGAGTGAATCCTACAAATAGAGTGAATGAGATAAAACTAACATGAAATAAATATATTTGGACAGAGCATTAATGTTAAACCTAGATGTAGAGAGAGAACTTGTTCCTGTTTTTATAGTATAATAGTTGGTATTTTTAATTTTTTGTGATCAATTTGCAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAGTATGAAAAGGAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGGTGGCTATTTCCTGCAGCTATTAGTAGGTTGGCTCGAGATCCAGCAACAGGATGGTACAGTTGATGGAACAAGGCCCCAGAAGAGCAATAGGGACTGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCAGTCTTTATGTACTTCAGTTACAAAATCATCACATCTTAGTGTGATTGTTTCTCACTCCCTGACTAAATTGTGAGGTCTTTAGAGATGAGGACTATATCTGTCTACCTTTTTATATCCAGTTCCCAGTATGCTGCTTGACATGTCATAGGTAGTTAGTAAATTCTTTCTCTGTGAACACACAAATGGAAGGATGGCCCATTCTTTTAGGAGTTCATATGAGCTTGCTAACTCTGAGTCAGAATGACCCGTGAACTGAAACATTCAGACGACACCACCACTAAAAACCATGGGGATTCAATTCTTTTGGAGTTTTACTGCTGAATGTACATTTTGCTTAATTTTTCTTTCTGGGGAACTTGCCAAAATTTAGGTAAGGGCGCCAGGTGTGGTGGCTCATGCTTGTAGTCCCAGCAC
|
GAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTGCAAATTTTTTTTTATTTCTGGTGACATTTGTTTATGCCTTTTGAGTGAATCCTACAAATAGAGTGAATGAGATAAAACTAACATGAAATAAATATATTTGGACAGAGCATTAATGTTAAACCTAGATGTAGAGAGAGAACTTGTTCCTGTTTTTATAGTATAATAGTTGGTATTTTTAATTTTTTGTGATCAATTTGCAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAAGTATGAAAAGGAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGGTGGCTATTTCCTGCAGCTATTAGTAGGTTGGCTCGAGATCCAGCAACAGGATGGTACAGTTGATGGAACAAGGCCCCAGAAGAGCAATAGGGACTGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCAGTCTTTATGTACTTCAGTTACAAAATCATCACATCTTAGTGTGATTGTTTCTCACTCCCTGACTAAATTGTGAGGTCTTTAGAGATGAGGACTATATCTGTCTACCTTTTTATATCCAGTTCCCAGTATGCTGCTTGACATGTCATAGGTAGTTAGTAAATTCTTTCTCTGTGAACACACAAATGGAAGGATGGCCCATTCTTTTAGGAGTTCATATGAGCTTGCTAACTCTGAGTCAGAATGACCCGTGAACTGAAACATTCAGACGACACCACCACTAAAAACCATGGGGATTCAATTCTTTTGGAGTTTTACTGCTGAATGTACATTTTGCTTAATTTTTCTTTCTGGGGAACTTGCCAAAATTTAGGTAAGGGCGCCAGGTGTGGTGGCTCATGCTTGTAGTCCCAGCA
|
pathogenic
| 329,885 |
Variant at chromosome position 13746826, chromosome X, gene OFD1 (OFD1 centriole and centriolar satellite protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['COACH_syndrome', 'Familial_aplasia_of_the_vermis', 'OFD1-related_disorder', 'Orofaciodigital_syndrome_I']
|
GAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTGCAAATTTTTTTTTATTTCTGGTGACATTTGTTTATGCCTTTTGAGTGAATCCTACAAATAGAGTGAATGAGATAAAACTAACATGAAATAAATATATTTGGACAGAGCATTAATGTTAAACCTAGATGTAGAGAGAGAACTTGTTCCTGTTTTTATAGTATAATAGTTGGTATTTTTAATTTTTTGTGATCAATTTGCAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAGTATGAAAAGGAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGGTGGCTATTTCCTGCAGCTATTAGTAGGTTGGCTCGAGATCCAGCAACAGGATGGTACAGTTGATGGAACAAGGCCCCAGAAGAGCAATAGGGACTGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCAGTCTTTATGTACTTCAGTTACAAAATCATCACATCTTAGTGTGATTGTTTCTCACTCCCTGACTAAATTGTGAGGTCTTTAGAGATGAGGACTATATCTGTCTACCTTTTTATATCCAGTTCCCAGTATGCTGCTTGACATGTCATAGGTAGTTAGTAAATTCTTTCTCTGTGAACACACAAATGGAAGGATGGCCCATTCTTTTAGGAGTTCATATGAGCTTGCTAACTCTGAGTCAGAATGACCCGTGAACTGAAACATTCAGACGACACCACCACTAAAAACCATGGGGATTCAATTCTTTTGGAGTTTTACTGCTGAATGTACATTTTGCTTAATTTTTCTTTCTGGGGAACTTGCCAAAATTTAGGTAAGGGCGCCAGGTGTGGTGGCTCATGCTTGTAGTCCCAGCAC
|
GAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACGATATGCTTAATGGATTTCTTGGCCCTTCCTTACTCTTAAATGGTAACTTGCAAGAAGATAAGTTCATAATTCATAAAATGTATTATATGACTATGCCTTTAAGTGTATTTTTAATTCAATTAGAAACATATTACTTGCTAATTATCAAGCAGTGCTGTTCAGTGGTGTGAGCCACATACATAATTTTAAATTTTCTAGTAGCCACGTTGAAAAAAGTAAAAAGAAACGGGTGAAATTTGTTTTAATAATATATTTAACCCAATACATGCAAAATATTATTTCAGCATATATTCAATATAAAAAATACTAAGATATTTCACATTTATTTTTTGCACTGTCTTTGAAATCTCATGTGTTTTTTACATTTAAAGCACATCTCAGTTGAGTCTGGTCACATTTGAAGTGTCAATGGCCCCATGTGGCTGGAGAGTCCTGTGTTGGACAGCATCTGGAAAATACAGAAAAGTAGATGGAAAAACATGTCTAAAGTCATCCCTACCAGAGATAAACACTATCGATGTTTTAATCTACTTCTGCCAGCCTTTTTCCCCTCTGTGCATACTTTTTGGGTGGGCGTTATACACGGTTGAGATTGTACTCTGGGTTCAGATTTGCACTTTGCTATGTGGTTGATTCTGATCCATAGTTGGTTTGAGGGCCATGGACTAAGGGAAGAGTCAGTAGACCTCACTTTAATCCTGGTTATGCTGTCATGTAGTCACTTATTAAGCTATATCAGCATTTGTTCTTTATGTGTAAAGGGGAGGGGTTGATATACGTGATCTTTGATTCTTTTAAAGTTATTGTTTTGAATATGTAAGTCAGCTTTAACCAGAGTCCAATAAAGAGCTCTCTGCCTTAGCACTTAGAGAGTAGGAAGAGACTCCAGTATTTTCTGACTTAAACTGTACTCTTGGCTTTCTTTTTCCTCTAACATTTCATGATGAACATTTTCAAACATACAGAAAAGTTGAAACAATTTTAGCGAACACTTGTATACCCACCACCTAGATGTCACTATTACACTTGTGTTATACTTGCTTCATCATTTTTATCTGTCCATCCATTCATCCACCTTCCTTTTTTTGTATTTCAAAGTAAGTTGCAGATAATCCCTACACTTTCCCCTAAGTATCCTCTTTACTTTTGAACCAGAGGTCTGGCGTCTTACGCACCTGACGATGTTTCTATGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAAGCTTTATCTTGTTACTGTAAACAAGAGTGATGTTTTTGTTTGTCTTCTAAAGTCTTAACCATAGGTATATGGGAAAATATCTAGAACTTTTAATAACGAATGGGATACTGTACTGTTGTGCAAATTTTTTTTTATTTCTGGTGACATTTGTTTATGCCTTTTGAGTGAATCCTACAAATAGAGTGAATGAGATAAAACTAACATGAAATAAATATATTTGGACAGAGCATTAATGTTAAACCTAGATGTAGAGAGAGAACTTGTTCCTGTTTTTATAGTATAATAGTTGGTATTTTTAATTTTTTGTGATCAATTTGCAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAGTATGAAAAGGAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGGTGGCTATTTCCTGCAGCTATTAGTAGGTTGGCTCGAGATCCAGCAACAGGATGGTACAGTTGATGGAACAAGGCCCCAGAAGAGCAATAGGGACTGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCAGTCTTTATGTACTTCAGTTACAAAATCATCACATCTTAGTGTGATTGTTTCTCACTCCCTGACTAAATTGTGAGGTCTTTAGAGATGAGGACTATATCTGTCTACCTTTTTATATCCAGTTCCCAGTATGCTGCTTGACATGTCATAGGTAGTTAGTAAATTCTTTCTCTGTGAACACACAAATGGAAGGATGGCCCATTCTTTTAGGAGTTCATATGAGCTTGCTAACTCTGAGTCAGAATGACCCGTGAACTGAAACATTCAGACGACACCACCACTAAAAACCATGGGGATTCAATTCTTTTGGAGTTTTACTGCTGAATGTACATTTTGCTTAATTTTTCTTTCTGGGGAACTTGCCAAAATTTAGGTAAGGGCGCCAGGTGTGGTGGCTCATGCTTGTAGTCCCAGCACN
|
pathogenic
| 329,886 |
Does the variant on chromosome X at location 13749121 affecting gene OFD1 (OFD1 centriole and centriolar satellite protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
TGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCAGTCTTTATGTACTTCAGTTACAAAATCATCACATCTTAGTGTGATTGTTTCTCACTCCCTGACTAAATTGTGAGGTCTTTAGAGATGAGGACTATATCTGTCTACCTTTTTATATCCAGTTCCCAGTATGCTGCTTGACATGTCATAGGTAGTTAGTAAATTCTTTCTCTGTGAACACACAAATGGAAGGATGGCCCATTCTTTTAGGAGTTCATATGAGCTTGCTAACTCTGAGTCAGAATGACCCGTGAACTGAAACATTCAGACGACACCACCACTAAAAACCATGGGGATTCAATTCTTTTGGAGTTTTACTGCTGAATGTACATTTTGCTTAATTTTTCTTTCTGGGGAACTTGCCAAAATTTAGGTAAGGGCGCCAGGTGTGGTGGCTCATGCTTGTAGTCCCAGCACCTTGGGAAGCCAAGGCAGGCATATCGCTTGAGTCCAGAAGTTCGACACCAGCCTGGGCAGCATGGCAAAACCCCATCTCTACAAAAATACAAAAAATCAGCCGGACTTGGTGGCGTGTGCCTGTAGTGCCTGCAGCTACTCGGTAGGCTGGGGTGGGAGGACCCCTTGAGCTTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACCCCACTGCACTCCAGCCTGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAATTTTTTTAGATAAGGGACTGAGAGATGTTAAAGAACTAAATAGCATAAATTTCACATGGCATGTTAGGACTGTAGGGTAATGGTAGTTTAACAGTCATTGGGGGAGTAAATTTTTATGCAACTAGAATACGCAAAAAGTATACCTTGAGTCGGAATCTCTTGAAGGTGAAATTGTTATCCTAAATGTCTGTACTTTGCTTTTTGGAATGTAGGAAGCAGTATATTCATTCAAATCTGTTTTGCTTTCATTAGCTTGCTTGCTAAAAATTAATGCTTTTCTATACAGATTGAAACAAAAGAAATTTATGCTCAAAGGCAACTTTTACTAAAAGATATGGATTTGCTAAGAGGAAGAGAAGCAGAGCTGAAGCAAAGAGTTGAAGCTTTTGAATTGTAAGTAATGCATGTTCATTTTGGATATTCAGAATGATGAGATTAAAAAGAATTACTAAATATATATCTAAATATTCTAATGTTCATTGCCAAGTAGAGTTCTTATTTGTAAAGGGGATATCACCTAGAAGGTACAAATTAAGAGGAACAAACACTAGGGTTTTGTTTTTGAAATATTAAACATTAAGATGAAAAGACGAATGAGATGCTATCATCAGGCTACAGTAAGACCAGACAGATTATTTGGAGAAGCTGTTAATACTGGAACAGATCGTATGTTTTGCAGTTACATTCAGTCCCTCAGATCTGATAGTTCCGTGTGTGTATGTATAGTAACTGAATTCCATATATCCAGGCCTGCAGCTTTTACCAGCTGTGTGCTCAGAAAAGGAAGTATGGTGGTCCAACTTGACTTGTACTTGGTGAAACCATTTCTTTGTTACTCACTGTTTCTAAGTGCTCACAAATGTTTCATCCTTGAGATCTTACCTGGGATTGATGGCAAGTTCACCTGTCTATAGTTTGTGCAATAAGCCTTCTCTTCCTTTGGGAATCTGCTATTGACACCCATAGATACTCCAGGAATCTTAGTTCATTAAAGAATTTGGCTCCATTAATGTTTTTTTCTCACTTCTATAGGCTTGATTTGTTTGATTTCAACTCTCTGTCTACCTTACTCTCTTTTTGGCAATAATGAAAAGGTAAATTGATCAAGAGAGAGGAAATAGGCACAAAATTGGGGCAGAGAGAGTTCATCATTCCTTTACCTCCATTTTCTCTACTCTTGTTCCCTCCTTCTCAGCATATAAACTAAATAAATGTAGTTTACCTCTCCATGGCTTTCCAGATTACCAGCAGAGGGAGCTAATACCTAGAGCCTTTACCTGTTCTTAGACTAGTCAGCATTTTGTAGCACTTCTCAGGATGGCTGGATCTCACCACCCATGAACCTACCTCCCTGGCTAAGGAGTTGGTGCTATGGTTGATTTAAAGTCTCACTATGAAGACCATTCTATTCTTCAGTATTTGGAAGCCCTGATTGATCCATCTATCTTTTGCCCTCTCTTTTGGTACTTTTTTCAATATTCAATCAATAGGGTTTTTTGTTTGTTTTGTTTTGTTTTTAAGACACAGTGTCTCTCTGTATTGCCCAGGCTGGTCTCAAACACTTGGGCTCAAGCAATCCTCCTGCCTCAGCCTTCTGAAAAGCTGGGATTATAGGTGCGGGCCACCACACTTGGCTAAAGCTGATTGGTTATTAAATGACAAAAACACATATTGTACCTTGAATATGTATGGACTAATTAATTAAATCCCACAGTTAGAAACAGCATTATAGAAGATTTAAGCACATAAGTACACTTATTTGTTACTTTGTAACTAATAATATCATTATTTCATCCCAGGATTGATTTTGGCTATTTATCACCTATAACCATTGTTTGAGTGTTTATTTTCAGTGAGAAACCACTTCCCTCTTGAGACTCTCCCACTCCCCTCAGCCCAAAGCACAGTCAATTCTGCTAGTTTCAATATGCTGTAACTAGGTCAGTTCATAAAATACACTGAGGACTTCTGGCTCTTTCCTTCTACTTCCCAGTAGTGATATCATGTAGCAGTTTTAGTCTGTGGAAC
|
TGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCAGTCTTTATGTACTTCAGTTACAAAATCATCACATCTTAGTGTGATTGTTTCTCACTCCCTGACTAAATTGTGAGGTCTTTAGAGATGAGGACTATATCTGTCTACCTTTTTATATCCAGTTCCCAGTATGCTGCTTGACATGTCATAGGTAGTTAGTAAATTCTTTCTCTGTGAACACACAAATGGAAGGATGGCCCATTCTTTTAGGAGTTCATATGAGCTTGCTAACTCTGAGTCAGAATGACCCGTGAACTGAAACATTCAGACGACACCACCACTAAAAACCATGGGGATTCAATTCTTTTGGAGTTTTACTGCTGAATGTACATTTTGCTTAATTTTTCTTTCTGGGGAACTTGCCAAAATTTAGGTAAGGGCGCCAGGTGTGGTGGCTCATGCTTGTAGTCCCAGCACCTTGGGAAGCCAAGGCAGGCATATCGCTTGAGTCCAGAAGTTCGACACCAGCCTGGGCAGCATGGCAAAACCCCATCTCTACAAAAATACAAAAAATCAGCCGGACTTGGTGGCGTGTGCCTGTAGTGCCTGCAGCTACTCGGTAGGCTGGGGTGGGAGGACCCCTTGAGCTTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACCCCACTGCACTCCAGCCTGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATTTTTTTAGATAAGGGACTGAGAGATGTTAAAGAACTAAATAGCATAAATTTCACATGGCATGTTAGGACTGTAGGGTAATGGTAGTTTAACAGTCATTGGGGGAGTAAATTTTTATGCAACTAGAATACGCAAAAAGTATACCTTGAGTCGGAATCTCTTGAAGGTGAAATTGTTATCCTAAATGTCTGTACTTTGCTTTTTGGAATGTAGGAAGCAGTATATTCATTCAAATCTGTTTTGCTTTCATTAGCTTGCTTGCTAAAAATTAATGCTTTTCTATACAGATTGAAACAAAAGAAATTTATGCTCAAAGGCAACTTTTACTAAAAGATATGGATTTGCTAAGAGGAAGAGAAGCAGAGCTGAAGCAAAGAGTTGAAGCTTTTGAATTGTAAGTAATGCATGTTCATTTTGGATATTCAGAATGATGAGATTAAAAAGAATTACTAAATATATATCTAAATATTCTAATGTTCATTGCCAAGTAGAGTTCTTATTTGTAAAGGGGATATCACCTAGAAGGTACAAATTAAGAGGAACAAACACTAGGGTTTTGTTTTTGAAATATTAAACATTAAGATGAAAAGACGAATGAGATGCTATCATCAGGCTACAGTAAGACCAGACAGATTATTTGGAGAAGCTGTTAATACTGGAACAGATCGTATGTTTTGCAGTTACATTCAGTCCCTCAGATCTGATAGTTCCGTGTGTGTATGTATAGTAACTGAATTCCATATATCCAGGCCTGCAGCTTTTACCAGCTGTGTGCTCAGAAAAGGAAGTATGGTGGTCCAACTTGACTTGTACTTGGTGAAACCATTTCTTTGTTACTCACTGTTTCTAAGTGCTCACAAATGTTTCATCCTTGAGATCTTACCTGGGATTGATGGCAAGTTCACCTGTCTATAGTTTGTGCAATAAGCCTTCTCTTCCTTTGGGAATCTGCTATTGACACCCATAGATACTCCAGGAATCTTAGTTCATTAAAGAATTTGGCTCCATTAATGTTTTTTTCTCACTTCTATAGGCTTGATTTGTTTGATTTCAACTCTCTGTCTACCTTACTCTCTTTTTGGCAATAATGAAAAGGTAAATTGATCAAGAGAGAGGAAATAGGCACAAAATTGGGGCAGAGAGAGTTCATCATTCCTTTACCTCCATTTTCTCTACTCTTGTTCCCTCCTTCTCAGCATATAAACTAAATAAATGTAGTTTACCTCTCCATGGCTTTCCAGATTACCAGCAGAGGGAGCTAATACCTAGAGCCTTTACCTGTTCTTAGACTAGTCAGCATTTTGTAGCACTTCTCAGGATGGCTGGATCTCACCACCCATGAACCTACCTCCCTGGCTAAGGAGTTGGTGCTATGGTTGATTTAAAGTCTCACTATGAAGACCATTCTATTCTTCAGTATTTGGAAGCCCTGATTGATCCATCTATCTTTTGCCCTCTCTTTTGGTACTTTTTTCAATATTCAATCAATAGGGTTTTTTGTTTGTTTTGTTTTGTTTTTAAGACACAGTGTCTCTCTGTATTGCCCAGGCTGGTCTCAAACACTTGGGCTCAAGCAATCCTCCTGCCTCAGCCTTCTGAAAAGCTGGGATTATAGGTGCGGGCCACCACACTTGGCTAAAGCTGATTGGTTATTAAATGACAAAAACACATATTGTACCTTGAATATGTATGGACTAATTAATTAAATCCCACAGTTAGAAACAGCATTATAGAAGATTTAAGCACATAAGTACACTTATTTGTTACTTTGTAACTAATAATATCATTATTTCATCCCAGGATTGATTTTGGCTATTTATCACCTATAACCATTGTTTGAGTGTTTATTTTCAGTGAGAAACCACTTCCCTCTTGAGACTCTCCCACTCCCCTCAGCCCAAAGCACAGTCAATTCTGCTAGTTTCAATATGCTGTAACTAGGTCAGTTCATAAAATACACTGAGGACTTCTGGCTCTTTCCTTCTACTTCCCAGTAGTGATATCATGTAGCAGTTTTAGTCTGTGGAA
|
benign
| 329,890 |
Determine if the mutation at chromosome X, position 13749121 in gene OFD1 (OFD1 centriole and centriolar satellite protein) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
TGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCAGTCTTTATGTACTTCAGTTACAAAATCATCACATCTTAGTGTGATTGTTTCTCACTCCCTGACTAAATTGTGAGGTCTTTAGAGATGAGGACTATATCTGTCTACCTTTTTATATCCAGTTCCCAGTATGCTGCTTGACATGTCATAGGTAGTTAGTAAATTCTTTCTCTGTGAACACACAAATGGAAGGATGGCCCATTCTTTTAGGAGTTCATATGAGCTTGCTAACTCTGAGTCAGAATGACCCGTGAACTGAAACATTCAGACGACACCACCACTAAAAACCATGGGGATTCAATTCTTTTGGAGTTTTACTGCTGAATGTACATTTTGCTTAATTTTTCTTTCTGGGGAACTTGCCAAAATTTAGGTAAGGGCGCCAGGTGTGGTGGCTCATGCTTGTAGTCCCAGCACCTTGGGAAGCCAAGGCAGGCATATCGCTTGAGTCCAGAAGTTCGACACCAGCCTGGGCAGCATGGCAAAACCCCATCTCTACAAAAATACAAAAAATCAGCCGGACTTGGTGGCGTGTGCCTGTAGTGCCTGCAGCTACTCGGTAGGCTGGGGTGGGAGGACCCCTTGAGCTTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACCCCACTGCACTCCAGCCTGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAATTTTTTTAGATAAGGGACTGAGAGATGTTAAAGAACTAAATAGCATAAATTTCACATGGCATGTTAGGACTGTAGGGTAATGGTAGTTTAACAGTCATTGGGGGAGTAAATTTTTATGCAACTAGAATACGCAAAAAGTATACCTTGAGTCGGAATCTCTTGAAGGTGAAATTGTTATCCTAAATGTCTGTACTTTGCTTTTTGGAATGTAGGAAGCAGTATATTCATTCAAATCTGTTTTGCTTTCATTAGCTTGCTTGCTAAAAATTAATGCTTTTCTATACAGATTGAAACAAAAGAAATTTATGCTCAAAGGCAACTTTTACTAAAAGATATGGATTTGCTAAGAGGAAGAGAAGCAGAGCTGAAGCAAAGAGTTGAAGCTTTTGAATTGTAAGTAATGCATGTTCATTTTGGATATTCAGAATGATGAGATTAAAAAGAATTACTAAATATATATCTAAATATTCTAATGTTCATTGCCAAGTAGAGTTCTTATTTGTAAAGGGGATATCACCTAGAAGGTACAAATTAAGAGGAACAAACACTAGGGTTTTGTTTTTGAAATATTAAACATTAAGATGAAAAGACGAATGAGATGCTATCATCAGGCTACAGTAAGACCAGACAGATTATTTGGAGAAGCTGTTAATACTGGAACAGATCGTATGTTTTGCAGTTACATTCAGTCCCTCAGATCTGATAGTTCCGTGTGTGTATGTATAGTAACTGAATTCCATATATCCAGGCCTGCAGCTTTTACCAGCTGTGTGCTCAGAAAAGGAAGTATGGTGGTCCAACTTGACTTGTACTTGGTGAAACCATTTCTTTGTTACTCACTGTTTCTAAGTGCTCACAAATGTTTCATCCTTGAGATCTTACCTGGGATTGATGGCAAGTTCACCTGTCTATAGTTTGTGCAATAAGCCTTCTCTTCCTTTGGGAATCTGCTATTGACACCCATAGATACTCCAGGAATCTTAGTTCATTAAAGAATTTGGCTCCATTAATGTTTTTTTCTCACTTCTATAGGCTTGATTTGTTTGATTTCAACTCTCTGTCTACCTTACTCTCTTTTTGGCAATAATGAAAAGGTAAATTGATCAAGAGAGAGGAAATAGGCACAAAATTGGGGCAGAGAGAGTTCATCATTCCTTTACCTCCATTTTCTCTACTCTTGTTCCCTCCTTCTCAGCATATAAACTAAATAAATGTAGTTTACCTCTCCATGGCTTTCCAGATTACCAGCAGAGGGAGCTAATACCTAGAGCCTTTACCTGTTCTTAGACTAGTCAGCATTTTGTAGCACTTCTCAGGATGGCTGGATCTCACCACCCATGAACCTACCTCCCTGGCTAAGGAGTTGGTGCTATGGTTGATTTAAAGTCTCACTATGAAGACCATTCTATTCTTCAGTATTTGGAAGCCCTGATTGATCCATCTATCTTTTGCCCTCTCTTTTGGTACTTTTTTCAATATTCAATCAATAGGGTTTTTTGTTTGTTTTGTTTTGTTTTTAAGACACAGTGTCTCTCTGTATTGCCCAGGCTGGTCTCAAACACTTGGGCTCAAGCAATCCTCCTGCCTCAGCCTTCTGAAAAGCTGGGATTATAGGTGCGGGCCACCACACTTGGCTAAAGCTGATTGGTTATTAAATGACAAAAACACATATTGTACCTTGAATATGTATGGACTAATTAATTAAATCCCACAGTTAGAAACAGCATTATAGAAGATTTAAGCACATAAGTACACTTATTTGTTACTTTGTAACTAATAATATCATTATTTCATCCCAGGATTGATTTTGGCTATTTATCACCTATAACCATTGTTTGAGTGTTTATTTTCAGTGAGAAACCACTTCCCTCTTGAGACTCTCCCACTCCCCTCAGCCCAAAGCACAGTCAATTCTGCTAGTTTCAATATGCTGTAACTAGGTCAGTTCATAAAATACACTGAGGACTTCTGGCTCTTTCCTTCTACTTCCCAGTAGTGATATCATGTAGCAGTTTTAGTCTGTGGAAC
|
TGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTTGTAAGTGAGTTTTCTGTTCTAGTTCTGGGGAGGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCAGTCTTTATGTACTTCAGTTACAAAATCATCACATCTTAGTGTGATTGTTTCTCACTCCCTGACTAAATTGTGAGGTCTTTAGAGATGAGGACTATATCTGTCTACCTTTTTATATCCAGTTCCCAGTATGCTGCTTGACATGTCATAGGTAGTTAGTAAATTCTTTCTCTGTGAACACACAAATGGAAGGATGGCCCATTCTTTTAGGAGTTCATATGAGCTTGCTAACTCTGAGTCAGAATGACCCGTGAACTGAAACATTCAGACGACACCACCACTAAAAACCATGGGGATTCAATTCTTTTGGAGTTTTACTGCTGAATGTACATTTTGCTTAATTTTTCTTTCTGGGGAACTTGCCAAAATTTAGGTAAGGGCGCCAGGTGTGGTGGCTCATGCTTGTAGTCCCAGCACCTTGGGAAGCCAAGGCAGGCATATCGCTTGAGTCCAGAAGTTCGACACCAGCCTGGGCAGCATGGCAAAACCCCATCTCTACAAAAATACAAAAAATCAGCCGGACTTGGTGGCGTGTGCCTGTAGTGCCTGCAGCTACTCGGTAGGCTGGGGTGGGAGGACCCCTTGAGCTTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACCCCACTGCACTCCAGCCTGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAATTTTTTTAGATAAGGGACTGAGAGATGTTAAAGAACTAAATAGCATAAATTTCACATGGCATGTTAGGACTGTAGGGTAATGGTAGTTTAACAGTCATTGGGGGAGTAAATTTTTATGCAACTAGAATACGCAAAAAGTATACCTTGAGTCGGAATCTCTTGAAGGTGAAATTGTTATCCTAAATGTCTGTACTTTGCTTTTTGGAATGTAGGAAGCAGTATATTCATTCAAATCTGTTTTGCTTTCATTAGCTTGCTTGCTAAAAATTAATGCTTTTCTATACAGATTGAAACAAAAGAAATTTATGCTCAAAGGCAACTTTTACTAAAAGATATGGATTTGCTAAGAGGAAGAGAAGCAGAGCTGAAGCAAAGAGTTGAAGCTTTTGAATTGTAAGTAATGCATGTTCATTTTGGATATTCAGAATGATGAGATTAAAAAGAATTACTAAATATATATCTAAATATTCTAATGTTCATTGCCAAGTAGAGTTCTTATTTGTAAAGGGGATATCACCTAGAAGGTACAAATTAAGAGGAACAAACACTAGGGTTTTGTTTTTGAAATATTAAACATTAAGATGAAAAGACGAATGAGATGCTATCATCAGGCTACAGTAAGACCAGACAGATTATTTGGAGAAGCTGTTAATACTGGAACAGATCGTATGTTTTGCAGTTACATTCAGTCCCTCAGATCTGATAGTTCCGTGTGTGTATGTATAGTAACTGAATTCCATATATCCAGGCCTGCAGCTTTTACCAGCTGTGTGCTCAGAAAAGGAAGTATGGTGGTCCAACTTGACTTGTACTTGGTGAAACCATTTCTTTGTTACTCACTGTTTCTAAGTGCTCACAAATGTTTCATCCTTGAGATCTTACCTGGGATTGATGGCAAGTTCACCTGTCTATAGTTTGTGCAATAAGCCTTCTCTTCCTTTGGGAATCTGCTATTGACACCCATAGATACTCCAGGAATCTTAGTTCATTAAAGAATTTGGCTCCATTAATGTTTTTTTCTCACTTCTATAGGCTTGATTTGTTTGATTTCAACTCTCTGTCTACCTTACTCTCTTTTTGGCAATAATGAAAAGGTAAATTGATCAAGAGAGAGGAAATAGGCACAAAATTGGGGCAGAGAGAGTTCATCATTCCTTTACCTCCATTTTCTCTACTCTTGTTCCCTCCTTCTCAGCATATAAACTAAATAAATGTAGTTTACCTCTCCATGGCTTTCCAGATTACCAGCAGAGGGAGCTAATACCTAGAGCCTTTACCTGTTCTTAGACTAGTCAGCATTTTGTAGCACTTCTCAGGATGGCTGGATCTCACCACCCATGAACCTACCTCCCTGGCTAAGGAGTTGGTGCTATGGTTGATTTAAAGTCTCACTATGAAGACCATTCTATTCTTCAGTATTTGGAAGCCCTGATTGATCCATCTATCTTTTGCCCTCTCTTTTGGTACTTTTTTCAATATTCAATCAATAGGGTTTTTTGTTTGTTTTGTTTTGTTTTTAAGACACAGTGTCTCTCTGTATTGCCCAGGCTGGTCTCAAACACTTGGGCTCAAGCAATCCTCCTGCCTCAGCCTTCTGAAAAGCTGGGATTATAGGTGCGGGCCACCACACTTGGCTAAAGCTGATTGGTTATTAAATGACAAAAACACATATTGTACCTTGAATATGTATGGACTAATTAATTAAATCCCACAGTTAGAAACAGCATTATAGAAGATTTAAGCACATAAGTACACTTATTTGTTACTTTGTAACTAATAATATCATTATTTCATCCCAGGATTGATTTTGGCTATTTATCACCTATAACCATTGTTTGAGTGTTTATTTTCAGTGAGAAACCACTTCCCTCTTGAGACTCTCCCACTCCCCTCAGCCCAAAGCACAGTCAATTCTGCTAGTTTCAATATGCTGTAACTAGGTCAGTTCATAAAATACACTGAGGACTTCTGGCTCTTTCCTTCTACTTCCCAGTAGTGATATCATGTAGCAGTTTTAGTCTGTGGAACN
|
benign
| 329,891 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 13749472, gene OFD1 (OFD1 centriole and centriolar satellite protein): what disease(s) if pathogenic?
|
pathogenic; ['Familial_aplasia_of_the_vermis', 'Orofaciodigital_syndrome_I']
|
GGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCAGTCTTTATGTACTTCAGTTACAAAATCATCACATCTTAGTGTGATTGTTTCTCACTCCCTGACTAAATTGTGAGGTCTTTAGAGATGAGGACTATATCTGTCTACCTTTTTATATCCAGTTCCCAGTATGCTGCTTGACATGTCATAGGTAGTTAGTAAATTCTTTCTCTGTGAACACACAAATGGAAGGATGGCCCATTCTTTTAGGAGTTCATATGAGCTTGCTAACTCTGAGTCAGAATGACCCGTGAACTGAAACATTCAGACGACACCACCACTAAAAACCATGGGGATTCAATTCTTTTGGAGTTTTACTGCTGAATGTACATTTTGCTTAATTTTTCTTTCTGGGGAACTTGCCAAAATTTAGGTAAGGGCGCCAGGTGTGGTGGCTCATGCTTGTAGTCCCAGCACCTTGGGAAGCCAAGGCAGGCATATCGCTTGAGTCCAGAAGTTCGACACCAGCCTGGGCAGCATGGCAAAACCCCATCTCTACAAAAATACAAAAAATCAGCCGGACTTGGTGGCGTGTGCCTGTAGTGCCTGCAGCTACTCGGTAGGCTGGGGTGGGAGGACCCCTTGAGCTTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACCCCACTGCACTCCAGCCTGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAATTTTTTTAGATAAGGGACTGAGAGATGTTAAAGAACTAAATAGCATAAATTTCACATGGCATGTTAGGACTGTAGGGTAATGGTAGTTTAACAGTCATTGGGGGAGTAAATTTTTATGCAACTAGAATACGCAAAAAGTATACCTTGAGTCGGAATCTCTTGAAGGTGAAATTGTTATCCTAAATGTCTGTACTTTGCTTTTTGGAATGTAGGAAGCAGTATATTCATTCAAATCTGTTTTGCTTTCATTAGCTTGCTTGCTAAAAATTAATGCTTTTCTATACAGATTGAAACAAAAGAAATTTATGCTCAAAGGCAACTTTTACTAAAAGATATGGATTTGCTAAGAGGAAGAGAAGCAGAGCTGAAGCAAAGAGTTGAAGCTTTTGAATTGTAAGTAATGCATGTTCATTTTGGATATTCAGAATGATGAGATTAAAAAGAATTACTAAATATATATCTAAATATTCTAATGTTCATTGCCAAGTAGAGTTCTTATTTGTAAAGGGGATATCACCTAGAAGGTACAAATTAAGAGGAACAAACACTAGGGTTTTGTTTTTGAAATATTAAACATTAAGATGAAAAGACGAATGAGATGCTATCATCAGGCTACAGTAAGACCAGACAGATTATTTGGAGAAGCTGTTAATACTGGAACAGATCGTATGTTTTGCAGTTACATTCAGTCCCTCAGATCTGATAGTTCCGTGTGTGTATGTATAGTAACTGAATTCCATATATCCAGGCCTGCAGCTTTTACCAGCTGTGTGCTCAGAAAAGGAAGTATGGTGGTCCAACTTGACTTGTACTTGGTGAAACCATTTCTTTGTTACTCACTGTTTCTAAGTGCTCACAAATGTTTCATCCTTGAGATCTTACCTGGGATTGATGGCAAGTTCACCTGTCTATAGTTTGTGCAATAAGCCTTCTCTTCCTTTGGGAATCTGCTATTGACACCCATAGATACTCCAGGAATCTTAGTTCATTAAAGAATTTGGCTCCATTAATGTTTTTTTCTCACTTCTATAGGCTTGATTTGTTTGATTTCAACTCTCTGTCTACCTTACTCTCTTTTTGGCAATAATGAAAAGGTAAATTGATCAAGAGAGAGGAAATAGGCACAAAATTGGGGCAGAGAGAGTTCATCATTCCTTTACCTCCATTTTCTCTACTCTTGTTCCCTCCTTCTCAGCATATAAACTAAATAAATGTAGTTTACCTCTCCATGGCTTTCCAGATTACCAGCAGAGGGAGCTAATACCTAGAGCCTTTACCTGTTCTTAGACTAGTCAGCATTTTGTAGCACTTCTCAGGATGGCTGGATCTCACCACCCATGAACCTACCTCCCTGGCTAAGGAGTTGGTGCTATGGTTGATTTAAAGTCTCACTATGAAGACCATTCTATTCTTCAGTATTTGGAAGCCCTGATTGATCCATCTATCTTTTGCCCTCTCTTTTGGTACTTTTTTCAATATTCAATCAATAGGGTTTTTTGTTTGTTTTGTTTTGTTTTTAAGACACAGTGTCTCTCTGTATTGCCCAGGCTGGTCTCAAACACTTGGGCTCAAGCAATCCTCCTGCCTCAGCCTTCTGAAAAGCTGGGATTATAGGTGCGGGCCACCACACTTGGCTAAAGCTGATTGGTTATTAAATGACAAAAACACATATTGTACCTTGAATATGTATGGACTAATTAATTAAATCCCACAGTTAGAAACAGCATTATAGAAGATTTAAGCACATAAGTACACTTATTTGTTACTTTGTAACTAATAATATCATTATTTCATCCCAGGATTGATTTTGGCTATTTATCACCTATAACCATTGTTTGAGTGTTTATTTTCAGTGAGAAACCACTTCCCTCTTGAGACTCTCCCACTCCCCTCAGCCCAAAGCACAGTCAATTCTGCTAGTTTCAATATGCTGTAACTAGGTCAGTTCATAAAATACACTGAGGACTTCTGGCTCTTTCCTTCTACTTCCCAGTAGTGATATCATGTAGCAGTTTTAGTCTGTGGAACTAGACACATGTGATTTTTTCCTAAATTTGTTAGCTCAGCTATGGTAGTTTATTTACTTTTTATATTTTTGTTAATTTCAGGAACCAGAAGCTCCAGGAAGAAAAACATAAAAGCATAACTGAGGCACTTAGGAGACAGGAGCAGAATATAAAGAGTTTTGAGGAGACCTATGACCGAAAGCTCAAGAATGAACTTCTAAAGTAATTGTTTAGCATTTTTAAATAACTAATATGTTTAAATTAAATTGGTAGAAACATAACAAAAACTGACAAAGTAGTCTGTAACTTAGGCAAACTTTAGTGTTTGAAAAAAAAAAAACATAGTTTTATCGATACAGTCAATCCTTTCCTG
|
GGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTATGCTGCCATTGGAGAGAGCCATGGAAATGAGCAAGGGTGAAGGTCCCTGGGGTAAAGGAGTCACCACAAGGGTCATCCATGTGACCATTTGATCTTGTCACCCCAGAAAGTAACTGGACAGGAGACAGAGAGGGTGAGGAGTGAGAGGGAGTCCATGTTGGCAAGCAGGATTGGATCTACTCCTTTAAATCATATTCCTTTCCCAAGGGCGTGTCTTAGACCAAACTAGATTTACAGCACTATTTCCAACATACATCCAGAACTACTGCTGTCAGATGTTGAAAGTAGGAATGCTTCCCCCTAGTGTCCACTCTCGCCTGGGGCTTCTCAATAAGACCTAGTTGTTTAATGCTAAGGGCACCCCCTCTAAAATTTTGTATAGCATTTCTGGGAATTGGGTTTGCTTCAGCTATAAAAATGAATGTCAGAAGCACATATCTTTGAGATGATTGGATTGTGTTTAGACTAATAACTTCAACCTTCAAGATAGGTGACTGACTAGATCCCTGTTTATTTATCTGATCATCTGAAGGCTTTGAAGAAGATTGTCATCCTCATAAGAAGCACCATGTCTTTATTCCCTCACCTGGACTGTCCATCCCCTTCTCTCCCTGATAAAAACCATAGTGTCTTTCAAGACCCAGCTTGGATGTCACCTGGGTGATGCCGTCCCTGACTCCCACTGAGCGACCCATTTAGGCCTCATTCCTGCATCAGTCTTTATGTACTTCAGTTACAAAATCATCACATCTTAGTGTGATTGTTTCTCACTCCCTGACTAAATTGTGAGGTCTTTAGAGATGAGGACTATATCTGTCTACCTTTTTATATCCAGTTCCCAGTATGCTGCTTGACATGTCATAGGTAGTTAGTAAATTCTTTCTCTGTGAACACACAAATGGAAGGATGGCCCATTCTTTTAGGAGTTCATATGAGCTTGCTAACTCTGAGTCAGAATGACCCGTGAACTGAAACATTCAGACGACACCACCACTAAAAACCATGGGGATTCAATTCTTTTGGAGTTTTACTGCTGAATGTACATTTTGCTTAATTTTTCTTTCTGGGGAACTTGCCAAAATTTAGGTAAGGGCGCCAGGTGTGGTGGCTCATGCTTGTAGTCCCAGCACCTTGGGAAGCCAAGGCAGGCATATCGCTTGAGTCCAGAAGTTCGACACCAGCCTGGGCAGCATGGCAAAACCCCATCTCTACAAAAATACAAAAAATCAGCCGGACTTGGTGGCGTGTGCCTGTAGTGCCTGCAGCTACTCGGTAGGCTGGGGTGGGAGGACCCCTTGAGCTTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACCCCACTGCACTCCAGCCTGTGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAATTTTTTTAGATAAGGGACTGAGAGATGTTAAAGAACTAAATAGCATAAATTTCACATGGCATGTTAGGACTGTAGGGTAATGGTAGTTTAACAGTCATTGGGGGAGTAAATTTTTATGCAACTAGAATACGCAAAAAGTATACCTTGAGTCGGAATCTCTTGAAGGTGAAATTGTTATCCTAAATGTCTGTACTTTGCTTTTTGGAATGTAGGAAGCAGTATATTCATTCAAATCTGTTTTGCTTTCATTAGCTTGCTTGCTAAAAATTAATGCTTTTCTATACAGATTGAAACAAAAGAAATTTATGCTCAAAGGCAACTTTTACTAAAAGATGGATTTGCTAAGAGGAAGAGAAGCAGAGCTGAAGCAAAGAGTTGAAGCTTTTGAATTGTAAGTAATGCATGTTCATTTTGGATATTCAGAATGATGAGATTAAAAAGAATTACTAAATATATATCTAAATATTCTAATGTTCATTGCCAAGTAGAGTTCTTATTTGTAAAGGGGATATCACCTAGAAGGTACAAATTAAGAGGAACAAACACTAGGGTTTTGTTTTTGAAATATTAAACATTAAGATGAAAAGACGAATGAGATGCTATCATCAGGCTACAGTAAGACCAGACAGATTATTTGGAGAAGCTGTTAATACTGGAACAGATCGTATGTTTTGCAGTTACATTCAGTCCCTCAGATCTGATAGTTCCGTGTGTGTATGTATAGTAACTGAATTCCATATATCCAGGCCTGCAGCTTTTACCAGCTGTGTGCTCAGAAAAGGAAGTATGGTGGTCCAACTTGACTTGTACTTGGTGAAACCATTTCTTTGTTACTCACTGTTTCTAAGTGCTCACAAATGTTTCATCCTTGAGATCTTACCTGGGATTGATGGCAAGTTCACCTGTCTATAGTTTGTGCAATAAGCCTTCTCTTCCTTTGGGAATCTGCTATTGACACCCATAGATACTCCAGGAATCTTAGTTCATTAAAGAATTTGGCTCCATTAATGTTTTTTTCTCACTTCTATAGGCTTGATTTGTTTGATTTCAACTCTCTGTCTACCTTACTCTCTTTTTGGCAATAATGAAAAGGTAAATTGATCAAGAGAGAGGAAATAGGCACAAAATTGGGGCAGAGAGAGTTCATCATTCCTTTACCTCCATTTTCTCTACTCTTGTTCCCTCCTTCTCAGCATATAAACTAAATAAATGTAGTTTACCTCTCCATGGCTTTCCAGATTACCAGCAGAGGGAGCTAATACCTAGAGCCTTTACCTGTTCTTAGACTAGTCAGCATTTTGTAGCACTTCTCAGGATGGCTGGATCTCACCACCCATGAACCTACCTCCCTGGCTAAGGAGTTGGTGCTATGGTTGATTTAAAGTCTCACTATGAAGACCATTCTATTCTTCAGTATTTGGAAGCCCTGATTGATCCATCTATCTTTTGCCCTCTCTTTTGGTACTTTTTTCAATATTCAATCAATAGGGTTTTTTGTTTGTTTTGTTTTGTTTTTAAGACACAGTGTCTCTCTGTATTGCCCAGGCTGGTCTCAAACACTTGGGCTCAAGCAATCCTCCTGCCTCAGCCTTCTGAAAAGCTGGGATTATAGGTGCGGGCCACCACACTTGGCTAAAGCTGATTGGTTATTAAATGACAAAAACACATATTGTACCTTGAATATGTATGGACTAATTAATTAAATCCCACAGTTAGAAACAGCATTATAGAAGATTTAAGCACATAAGTACACTTATTTGTTACTTTGTAACTAATAATATCATTATTTCATCCCAGGATTGATTTTGGCTATTTATCACCTATAACCATTGTTTGAGTGTTTATTTTCAGTGAGAAACCACTTCCCTCTTGAGACTCTCCCACTCCCCTCAGCCCAAAGCACAGTCAATTCTGCTAGTTTCAATATGCTGTAACTAGGTCAGTTCATAAAATACACTGAGGACTTCTGGCTCTTTCCTTCTACTTCCCAGTAGTGATATCATGTAGCAGTTTTAGTCTGTGGAACTAGACACATGTGATTTTTTCCTAAATTTGTTAGCTCAGCTATGGTAGTTTATTTACTTTTTATATTTTTGTTAATTTCAGGAACCAGAAGCTCCAGGAAGAAAAACATAAAAGCATAACTGAGGCACTTAGGAGACAGGAGCAGAATATAAAGAGTTTTGAGGAGACCTATGACCGAAAGCTCAAGAATGAACTTCTAAAGTAATTGTTTAGCATTTTTAAATAACTAATATGTTTAAATTAAATTGGTAGAAACATAACAAAAACTGACAAAGTAGTCTGTAACTTAGGCAAACTTTAGTGTTTGAAAAAAAAAAAACATAGTTTTATCGATACAGTCAATCCTTTCCTGNN
|
pathogenic
| 329,893 |
Regarding the variant at chromosome X and position 13753425, affecting gene OFD1 (OFD1 centriole and centriolar satellite protein): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Familial_aplasia_of_the_vermis', 'Orofaciodigital_syndrome_I', 'Primary_ciliary_dyskinesia']
|
TTAGCATTTTTAAATAACTAATATGTTTAAATTAAATTGGTAGAAACATAACAAAAACTGACAAAGTAGTCTGTAACTTAGGCAAACTTTAGTGTTTGAAAAAAAAAAAACATAGTTTTATCGATACAGTCAATCCTTTCCTGCATTTGAGTTAGGATAGTTTTTAAAAGATAAGGGCCGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTCTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTGCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCACTTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGACGTTGCAGTGAACTGAAGTTGTGCTACTGCACTCTACTAGCCTGCGTGACAGTGACAATCCATCTCAAAAATTAACAACAATAAAAAAATACAGAGAAGCACATCCTCTGCGCTTCTTATGGCTTCTCTAACGTTTATTGTGGGCTGTGATTTGCTTTAATTTTCAGGACACCTTGTGACTTGCTTAGCTTGCATAGTTGATAAGCTGTAAAATTGGAATTATAACCACTTTTAGTTATCTTTTCCTCTACCTCACTCATACAGTCAGAAGGATGGGGTTATCTGACAATATATAAATTATACTAGTGGTCATAGTATTTGTCAGTGAACATGTGCCTTGTATTCCTTCAAGATTCAGCAAAGCCAGAATCAAAAGAGCTAAAATTAACTATGTGAGGCAAAAAGTGATATAGGGAAAGGAAAATATGGACAACTATGGTAACTTTGGCTTTTCTGTAGTCTGAGTTTTGTGTATCAGTGAATAATATCTCAGTGCTACGACATTATGCCCATGTGGTAACATTTCTCTTCAGTGTGTGGGAAAGCATCTGGCACATAAAAAGTGCTCAGTTAATATTTGTTGTAAATGTGTCACGAGGAAATGATTCAACTCAGGTGCTCTGGGCATTTCTTATTTGGCCTCTTTTATTGCCTTTCTCATAATTTGTCATCGATATTCCATTACATAATATTGCAAAGGTTTCTTGAGGTAATCCTTTAAACAAATCCTATTTTTAAAAAATATGGCAGCTTTTTTATCTATTGATTTTGAAATGATGTATTTTACCCACATCTTCTATGTCAGTTTCTATACTAAAATAGCTAAAATGGAAGTGTCTGTAGTTGCTGAATTTTTAGGAATAAATGAATTAAAGTATGTGTGTTAATTTTACATAGTTATGGAGCTAGTGAACTATTTGGTGTCATTGTGACAGCTTCCACAGGCTGCATGGTGTCTGCCTGGCTTTGGGAATCCTCATATGACTTTGGCAGGTGTTGGAGTTTGGAGGCTCTTCGCCACAGGAGTGCTTCTATTTCCTTTTGGAACCAAAAGGGCAGCTGGTAACAGCTGGGAAAGGGAAGTGAAACTGTGAAAATGTGCCTTTTGGTATTGCTAATCCGGATATAATGCTCTTGGCAGTTGGCTCTCAGGACTGTGCTTAGTCCCTGAGCACAAAAGTTCTTACCTTGGTTGGGGGTGGGCAGATGGTACAGGTGGATTGGAAGTGACCGTCTGATTATCATTTGGGATTGAGTCTGTTGTGTGCTGTGTAAATTTAATTTACCCCTTTGCTCTTTGTGTCAGTTGAGACCAACTGAAAAGTGATTGCTTTCAGTAAGTAACCTTATGATAACACGACGCTTCATTTTGTGTGATTGAGTTTTGGGACCCAGTTTATAGGATCAAGGAAGGGTTTTACTGGGCATTTTATGTTCAGGGGTTATATCCCTGGCTTTAGTATTGAGGACTTTGAAGTTTACAAGTTGTCATGTTTAGCACCCTCAGGTGCTCCTGTGCCATAGATAAGCTCCTGCACTGATAACAGTCTTTCCAGAAAAATGCCTGAGGAGCTCATATTTAGTCATTCTGATTCTCAGGTATCAACTTGAACTGAAGGATGACTACATCATTAGAACTAATCGACTGATTGAAGATGAAAGGAAGAATAAAGGTGATGTTTGGGGGGAAAATAAGCTGTATTTTTCAGTTCTGCTGTAGGTTATTAGCTTCCCAAGTTGGGTCTTTTCTATATTCTAAAAAATACAGCTTACACTTCATTGTTCATACAAAATTACACATTTTTTGTAATTTTAATTTTATAAATTAAAAATCATGGTCTTCACTGCCTTTTGAGGAACCTTCATGTTTAATAGTTTGTATATTCACAAAGGCCAGTGATTTATCATGGATATTTTATCCAACTTTATTTCATATATTTTGATAAATCTGCAATTGTCAGGAACGTAGCAGCAACTTATTGCTGTCAAGTACGTATTACTCCTAACCATGAGAGACTTTATTTTTCACTTACGGAAAACTTTTAACTTCTCTGTCCTCTGTGACCTAGTTTCTTATTTCTTTTGCTTCTAATATATTTTTATGCTTTATAATATTTTTACTTGATGTATAACCTTCTGAACTCTTGTGTACATTGGCCTGAGACTATGGAAGTTGAATAATTTTTCAATCTTCAGATGTTTTACATTTCAGTGTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTACAAGCTCCACCTCCCAGGTTCACGCCATTCTTCCACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCACCCACCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTCTCAGCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCCATTTCAATGTATTTCTAGGAAATTGCTGTAACAAGAAGTTGAAGTTTTGGTGGAAATTTCAAGTAGATTCCTGGGAGGAAACCAGGGTTAGATAGTTGATGTTGACCAGATACCCAATGTGTGGCTACTGTCTTTTTTTTTTTTTTTTTTTAAGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCGCCACCATGCCTGGCTAATTTTTGTAGAGAGAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGGTCCGCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTACTATCTTGTGGAGACTAATACTTCTTTTATGCATTAATACCATTACGTATGTAACAAATTATGGTTTGATGATATATCTACATAGACTTGTGTTAGATGAAGTGAAAACTACAAAATAGTAACTACAATATAGTAACAGACAGATCTTTGTCTTCAAGGAAGTTAAGAGCTGTGGGTATTAGGGCCCTGTGCTTTGAGCACATGGTATAACTCTGGTTAGCATGTATAGCAAGTGGAATTTCACCACATATATGACAGTTACAGCTTCACATCACCTGTTGGGTAACAGGGTTTATTTCTTACTTGCCCGCTACATCTGCTATTTGGATTGTGAAATAGTGGTCATTAGGTCTGACATACTGGCCATAAATATTAAATGGCTTTTGTATTCACTAGGAAAACATTATGGTGTTTAATTGGTGGGCTCTTTTTTCAGAAAAAGCTGTTCATTTGCAAGAGGAGCTCATAGCTATTAATTCAAAAAAGGAGGAACTCAATCAATCTGTAAATCGTGTGAAAGAACTTGAGGTAATTGTTAAGCATGTTGGTTTTTGAAATAGATTTTAAGCAATATATGAAATTTTAGTCATACATAATTTATCCTAAGTCATCCTGTTGAGATGTTTGGACTGCCATTTATATGGCTAAGAAGGTGTTAGCTGAAGTTAATTCAATAGTTCTTAATTTCAGTCAGTGTCACATAGGAAAGTGTAGATAGAGCTTTGGGTCCTGGAGTCCTGCCCACATCCTGTCTGTGT
|
TTAGCATTTTTAAATAACTAATATGTTTAAATTAAATTGGTAGAAACATAACAAAAACTGACAAAGTAGTCTGTAACTTAGGCAAACTTTAGTGTTTGAAAAAAAAAAAACATAGTTTTATCGATACAGTCAATCCTTTCCTGCATTTGAGTTAGGATAGTTTTTAAAAGATAAGGGCCGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTCTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTGCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCACTTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGACGTTGCAGTGAACTGAAGTTGTGCTACTGCACTCTACTAGCCTGCGTGACAGTGACAATCCATCTCAAAAATTAACAACAATAAAAAAATACAGAGAAGCACATCCTCTGCGCTTCTTATGGCTTCTCTAACGTTTATTGTGGGCTGTGATTTGCTTTAATTTTCAGGACACCTTGTGACTTGCTTAGCTTGCATAGTTGATAAGCTGTAAAATTGGAATTATAACCACTTTTAGTTATCTTTTCCTCTACCTCACTCATACAGTCAGAAGGATGGGGTTATCTGACAATATATAAATTATACTAGTGGTCATAGTATTTGTCAGTGAACATGTGCCTTGTATTCCTTCAAGATTCAGCAAAGCCAGAATCAAAAGAGCTAAAATTAACTATGTGAGGCAAAAAGTGATATAGGGAAAGGAAAATATGGACAACTATGGTAACTTTGGCTTTTCTGTAGTCTGAGTTTTGTGTATCAGTGAATAATATCTCAGTGCTACGACATTATGCCCATGTGGTAACATTTCTCTTCAGTGTGTGGGAAAGCATCTGGCACATAAAAAGTGCTCAGTTAATATTTGTTGTAAATGTGTCACGAGGAAATGATTCAACTCAGGTGCTCTGGGCATTTCTTATTTGGCCTCTTTTATTGCCTTTCTCATAATTTGTCATCGATATTCCATTACATAATATTGCAAAGGTTTCTTGAGGTAATCCTTTAAACAAATCCTATTTTTAAAAAATATGGCAGCTTTTTTATCTATTGATTTTGAAATGATGTATTTTACCCACATCTTCTATGTCAGTTTCTATACTAAAATAGCTAAAATGGAAGTGTCTGTAGTTGCTGAATTTTTAGGAATAAATGAATTAAAGTATGTGTGTTAATTTTACATAGTTATGGAGCTAGTGAACTATTTGGTGTCATTGTGACAGCTTCCACAGGCTGCATGGTGTCTGCCTGGCTTTGGGAATCCTCATATGACTTTGGCAGGTGTTGGAGTTTGGAGGCTCTTCGCCACAGGAGTGCTTCTATTTCCTTTTGGAACCAAAAGGGCAGCTGGTAACAGCTGGGAAAGGGAAGTGAAACTGTGAAAATGTGCCTTTTGGTATTGCTAATCCGGATATAATGCTCTTGGCAGTTGGCTCTCAGGACTGTGCTTAGTCCCTGAGCACAAAAGTTCTTACCTTGGTTGGGGGTGGGCAGATGGTACAGGTGGATTGGAAGTGACCGTCTGATTATCATTTGGGATTGAGTCTGTTGTGTGCTGTGTAAATTTAATTTACCCCTTTGCTCTTTGTGTCAGTTGAGACCAACTGAAAAGTGATTGCTTTCAGTAAGTAACCTTATGATAACACGACGCTTCATTTTGTGTGATTGAGTTTTGGGACCCAGTTTATAGGATCAAGGAAGGGTTTTACTGGGCATTTTATGTTCAGGGGTTATATCCCTGGCTTTAGTATTGAGGACTTTGAAGTTTACAAGTTGTCATGTTTAGCACCCTCAGGTGCTCCTGTGCCATAGATAAGCTCCTGCACTGATAACAGTCTTTCCAGAAAAATGCCTGAGGAGCTCATATTTAGTCATTCTGATTCTCAGGTATCAACTTGAACTGAAGGATGACTACATCATTAGAACTAATCGACTGATTGAAGATGAAGAATAAAGGTGATGTTTGGGGGGAAAATAAGCTGTATTTTTCAGTTCTGCTGTAGGTTATTAGCTTCCCAAGTTGGGTCTTTTCTATATTCTAAAAAATACAGCTTACACTTCATTGTTCATACAAAATTACACATTTTTTGTAATTTTAATTTTATAAATTAAAAATCATGGTCTTCACTGCCTTTTGAGGAACCTTCATGTTTAATAGTTTGTATATTCACAAAGGCCAGTGATTTATCATGGATATTTTATCCAACTTTATTTCATATATTTTGATAAATCTGCAATTGTCAGGAACGTAGCAGCAACTTATTGCTGTCAAGTACGTATTACTCCTAACCATGAGAGACTTTATTTTTCACTTACGGAAAACTTTTAACTTCTCTGTCCTCTGTGACCTAGTTTCTTATTTCTTTTGCTTCTAATATATTTTTATGCTTTATAATATTTTTACTTGATGTATAACCTTCTGAACTCTTGTGTACATTGGCCTGAGACTATGGAAGTTGAATAATTTTTCAATCTTCAGATGTTTTACATTTCAGTGTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTACAAGCTCCACCTCCCAGGTTCACGCCATTCTTCCACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCACCCACCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTCTCAGCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCCATTTCAATGTATTTCTAGGAAATTGCTGTAACAAGAAGTTGAAGTTTTGGTGGAAATTTCAAGTAGATTCCTGGGAGGAAACCAGGGTTAGATAGTTGATGTTGACCAGATACCCAATGTGTGGCTACTGTCTTTTTTTTTTTTTTTTTTTAAGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCGCCACCATGCCTGGCTAATTTTTGTAGAGAGAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGGTCCGCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTACTATCTTGTGGAGACTAATACTTCTTTTATGCATTAATACCATTACGTATGTAACAAATTATGGTTTGATGATATATCTACATAGACTTGTGTTAGATGAAGTGAAAACTACAAAATAGTAACTACAATATAGTAACAGACAGATCTTTGTCTTCAAGGAAGTTAAGAGCTGTGGGTATTAGGGCCCTGTGCTTTGAGCACATGGTATAACTCTGGTTAGCATGTATAGCAAGTGGAATTTCACCACATATATGACAGTTACAGCTTCACATCACCTGTTGGGTAACAGGGTTTATTTCTTACTTGCCCGCTACATCTGCTATTTGGATTGTGAAATAGTGGTCATTAGGTCTGACATACTGGCCATAAATATTAAATGGCTTTTGTATTCACTAGGAAAACATTATGGTGTTTAATTGGTGGGCTCTTTTTTCAGAAAAAGCTGTTCATTTGCAAGAGGAGCTCATAGCTATTAATTCAAAAAAGGAGGAACTCAATCAATCTGTAAATCGTGTGAAAGAACTTGAGGTAATTGTTAAGCATGTTGGTTTTTGAAATAGATTTTAAGCAATATATGAAATTTTAGTCATACATAATTTATCCTAAGTCATCCTGTTGAGATGTTTGGACTGCCATTTATATGGCTAAGAAGGTGTTAGCTGAAGTTAATTCAATAGTTCTTAATTTCAGTCAGTGTCACATAGGAAAGTGTAGATAGAGCTTTGGGTCCTGGAGTCCTGCCCACATCCTGTCTGTGTNNNNN
|
pathogenic
| 329,899 |
Is the genetic change at chromosome X, position 13755207, within gene OFD1 (OFD1 centriole and centriolar satellite protein) benign or pathogenic? Name the disease(s) if pathogenic.
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pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_10', 'Orofaciodigital_syndrome_I', 'Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_23', 'Simpson-Golabi-Behmel_syndrome_type_2']
|
CCCAGTTTATAGGATCAAGGAAGGGTTTTACTGGGCATTTTATGTTCAGGGGTTATATCCCTGGCTTTAGTATTGAGGACTTTGAAGTTTACAAGTTGTCATGTTTAGCACCCTCAGGTGCTCCTGTGCCATAGATAAGCTCCTGCACTGATAACAGTCTTTCCAGAAAAATGCCTGAGGAGCTCATATTTAGTCATTCTGATTCTCAGGTATCAACTTGAACTGAAGGATGACTACATCATTAGAACTAATCGACTGATTGAAGATGAAAGGAAGAATAAAGGTGATGTTTGGGGGGAAAATAAGCTGTATTTTTCAGTTCTGCTGTAGGTTATTAGCTTCCCAAGTTGGGTCTTTTCTATATTCTAAAAAATACAGCTTACACTTCATTGTTCATACAAAATTACACATTTTTTGTAATTTTAATTTTATAAATTAAAAATCATGGTCTTCACTGCCTTTTGAGGAACCTTCATGTTTAATAGTTTGTATATTCACAAAGGCCAGTGATTTATCATGGATATTTTATCCAACTTTATTTCATATATTTTGATAAATCTGCAATTGTCAGGAACGTAGCAGCAACTTATTGCTGTCAAGTACGTATTACTCCTAACCATGAGAGACTTTATTTTTCACTTACGGAAAACTTTTAACTTCTCTGTCCTCTGTGACCTAGTTTCTTATTTCTTTTGCTTCTAATATATTTTTATGCTTTATAATATTTTTACTTGATGTATAACCTTCTGAACTCTTGTGTACATTGGCCTGAGACTATGGAAGTTGAATAATTTTTCAATCTTCAGATGTTTTACATTTCAGTGTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTACAAGCTCCACCTCCCAGGTTCACGCCATTCTTCCACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCACCCACCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTCTCAGCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCCATTTCAATGTATTTCTAGGAAATTGCTGTAACAAGAAGTTGAAGTTTTGGTGGAAATTTCAAGTAGATTCCTGGGAGGAAACCAGGGTTAGATAGTTGATGTTGACCAGATACCCAATGTGTGGCTACTGTCTTTTTTTTTTTTTTTTTTTAAGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCGCCACCATGCCTGGCTAATTTTTGTAGAGAGAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGGTCCGCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTACTATCTTGTGGAGACTAATACTTCTTTTATGCATTAATACCATTACGTATGTAACAAATTATGGTTTGATGATATATCTACATAGACTTGTGTTAGATGAAGTGAAAACTACAAAATAGTAACTACAATATAGTAACAGACAGATCTTTGTCTTCAAGGAAGTTAAGAGCTGTGGGTATTAGGGCCCTGTGCTTTGAGCACATGGTATAACTCTGGTTAGCATGTATAGCAAGTGGAATTTCACCACATATATGACAGTTACAGCTTCACATCACCTGTTGGGTAACAGGGTTTATTTCTTACTTGCCCGCTACATCTGCTATTTGGATTGTGAAATAGTGGTCATTAGGTCTGACATACTGGCCATAAATATTAAATGGCTTTTGTATTCACTAGGAAAACATTATGGTGTTTAATTGGTGGGCTCTTTTTTCAGAAAAAGCTGTTCATTTGCAAGAGGAGCTCATAGCTATTAATTCAAAAAAGGAGGAACTCAATCAATCTGTAAATCGTGTGAAAGAACTTGAGGTAATTGTTAAGCATGTTGGTTTTTGAAATAGATTTTAAGCAATATATGAAATTTTAGTCATACATAATTTATCCTAAGTCATCCTGTTGAGATGTTTGGACTGCCATTTATATGGCTAAGAAGGTGTTAGCTGAAGTTAATTCAATAGTTCTTAATTTCAGTCAGTGTCACATAGGAAAGTGTAGATAGAGCTTTGGGTCCTGGAGTCCTGCCCACATCCTGTCTGTGTCTCTAACTGCTTGTGTGTCGCTAGGTAAGTTCTGTGACTGCAGGTTCCTGAGCTGTAAACTAGGATGTTTTCCACATTATAGGGTTGTTGAGGGAATTCAGTAAGCTAACTTATGTGCCTAGTTCATAGCAGGTGGCCATTACTATTAGTTTCTACATCAGCCTGTTATCTCCTTCCATCAGCAGCAGGTAAACAAAATTCCTGTCATTACATTGTTATCTTACAGATTAAAACAAAATGAGGTACATTTTTCACATATCATTGCTTCTTTACTTTTCTGTTCATTCGTGTGCTTGCTGTCTGAAGGATGAAGCTGGAACTTTAGGTACTTACAACATATTTTGTATATGAAATTTATTTTAGCAACTGTGACTTATGTGAGAACTTTGTAGGCTTTTTACTCAAATATGAGATATACTAAGAAAAGGGAAGCACTTCACAACATTTTACAGAATCTTTTTTCCTTTCTTTCCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTTTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCAACCTCCACCTCCCGGGTTCAAGTGATTCTCATGTCTCAGCTCCCAAGTAGCTGGGATTTCAGCCATGTGCCACCACACCCAGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGGTGGTCTCGAACTCCTGAGCTCAAGCAATCCTCTTGCCTCAGCCTCCCAAAGTGCTGCGATTACGGGCGTGAGCCACCATGCTCAGCCATTTTTATCTTACCTTTCATATTTAAAAAATATATATTGCTATGATGTGTGATTATTGTTGGGTTCTTGGTTGCCTCTGGAAAATGGGATGATAATCTTAGAAGGACTTGCTTCATGGGATGCGGCCTATAAAAGTTCTGCCCCAACTGTAGGGCGGAAGATAATTTTCGTTATTGTAGTTAGAGTCTTATTGTAGAGAATCAGACTTCTGTCTAGTGACCTTAATTAAATTGTGACACCATGCTTAAAGGAGCCTGCCAGCTTTTACTTTTGCAGTACTGTAAAGTCATTATTCAAATGTAAATTTTCCTTTTTGAATTTTAGCTTGAATTAGAGTCTGTCAAAGCCCAGTCTTTGGCAATAACAAAACAAAACCATATGCTGAATGAAAAGGTTAAAGAGATGAGTGATTATTCACTACTAAAAGAAGAGAAACTGGAGCTTCTGGCACAAAATAAATTACTTAAACAACAACTGGAAGAGAGTAGAAATGAAAACCTGCGTCTCCTAAACCGTATGTATTTTTCTTTTCTTCTGACTTGCGTGTTTTAGTAATTCGCATTAGGTCAGTATTATAAAACTATGCTTTGTACTTGTATAAGGTAGGGGGCTTACATTGGGAAGATTTATAAAATTAAGATTCTTGGATTAAACTCTGCAAACCTGCCTATAGGTGGTATCAAAGCTTCCCTTGCCCTCTGACTGCTGATTGGGTTTGGCCAGTGGGGACACCAGCCTCTACATACAGTGGCCCTAGGCTGGCCACTGTGCCTCATGGCCAAGTGAGGCCATAGTGCCTGCGATTACCTCTTCCAAGTGCTCTGCACCACCACCCTGTCTCTAGTGCTGAGAATTTCTCCCTCCTCTGATTCCCCAGGCCCAAGGAGCGCTAACAGTATGGCCCTGTTACTAGCCCACCCAGGGAACTCCACCATCCTTTGTGCATACCCTGAATAAGTCAACCTTTATTAAAGGGTTCTTAGATGACCTTGACCGTGAGA
|
CCCAGTTTATAGGATCAAGGAAGGGTTTTACTGGGCATTTTATGTTCAGGGGTTATATCCCTGGCTTTAGTATTGAGGACTTTGAAGTTTACAAGTTGTCATGTTTAGCACCCTCAGGTGCTCCTGTGCCATAGATAAGCTCCTGCACTGATAACAGTCTTTCCAGAAAAATGCCTGAGGAGCTCATATTTAGTCATTCTGATTCTCAGGTATCAACTTGAACTGAAGGATGACTACATCATTAGAACTAATCGACTGATTGAAGATGAAAGGAAGAATAAAGGTGATGTTTGGGGGGAAAATAAGCTGTATTTTTCAGTTCTGCTGTAGGTTATTAGCTTCCCAAGTTGGGTCTTTTCTATATTCTAAAAAATACAGCTTACACTTCATTGTTCATACAAAATTACACATTTTTTGTAATTTTAATTTTATAAATTAAAAATCATGGTCTTCACTGCCTTTTGAGGAACCTTCATGTTTAATAGTTTGTATATTCACAAAGGCCAGTGATTTATCATGGATATTTTATCCAACTTTATTTCATATATTTTGATAAATCTGCAATTGTCAGGAACGTAGCAGCAACTTATTGCTGTCAAGTACGTATTACTCCTAACCATGAGAGACTTTATTTTTCACTTACGGAAAACTTTTAACTTCTCTGTCCTCTGTGACCTAGTTTCTTATTTCTTTTGCTTCTAATATATTTTTATGCTTTATAATATTTTTACTTGATGTATAACCTTCTGAACTCTTGTGTACATTGGCCTGAGACTATGGAAGTTGAATAATTTTTCAATCTTCAGATGTTTTACATTTCAGTGTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTACAAGCTCCACCTCCCAGGTTCACGCCATTCTTCCACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCACCCACCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTCTCAGCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCCATTTCAATGTATTTCTAGGAAATTGCTGTAACAAGAAGTTGAAGTTTTGGTGGAAATTTCAAGTAGATTCCTGGGAGGAAACCAGGGTTAGATAGTTGATGTTGACCAGATACCCAATGTGTGGCTACTGTCTTTTTTTTTTTTTTTTTTTAAGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCGCCACCATGCCTGGCTAATTTTTGTAGAGAGAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGGTCCGCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTACTATCTTGTGGAGACTAATACTTCTTTTATGCATTAATACCATTACGTATGTAACAAATTATGGTTTGATGATATATCTACATAGACTTGTGTTAGATGAAGTGAAAACTACAAAATAGTAACTACAATATAGTAACAGACAGATCTTTGTCTTCAAGGAAGTTAAGAGCTGTGGGTATTAGGGCCCTGTGCTTTGAGCACATGGTATAACTCTGGTTAGCATGTATAGCAAGTGGAATTTCACCACATATATGACAGTTACAGCTTCACATCACCTGTTGGGTAACAGGGTTTATTTCTTACTTGCCCGCTACATCTGCTATTTGGATTGTGAAATAGTGGTCATTAGGTCTGACATACTGGCCATAAATATTAAATGGCTTTTGTATTCACTAGGAAAACATTATGGTGTTTAATTGGTGGGCTCTTTTTTCAGAAAAAGCTGTTCATTTGCAAGAGGAGCTCATAGCTATTAATTCAAAAAAGGAGGAACTCAATCTGTAAATCGTGTGAAAGAACTTGAGGTAATTGTTAAGCATGTTGGTTTTTGAAATAGATTTTAAGCAATATATGAAATTTTAGTCATACATAATTTATCCTAAGTCATCCTGTTGAGATGTTTGGACTGCCATTTATATGGCTAAGAAGGTGTTAGCTGAAGTTAATTCAATAGTTCTTAATTTCAGTCAGTGTCACATAGGAAAGTGTAGATAGAGCTTTGGGTCCTGGAGTCCTGCCCACATCCTGTCTGTGTCTCTAACTGCTTGTGTGTCGCTAGGTAAGTTCTGTGACTGCAGGTTCCTGAGCTGTAAACTAGGATGTTTTCCACATTATAGGGTTGTTGAGGGAATTCAGTAAGCTAACTTATGTGCCTAGTTCATAGCAGGTGGCCATTACTATTAGTTTCTACATCAGCCTGTTATCTCCTTCCATCAGCAGCAGGTAAACAAAATTCCTGTCATTACATTGTTATCTTACAGATTAAAACAAAATGAGGTACATTTTTCACATATCATTGCTTCTTTACTTTTCTGTTCATTCGTGTGCTTGCTGTCTGAAGGATGAAGCTGGAACTTTAGGTACTTACAACATATTTTGTATATGAAATTTATTTTAGCAACTGTGACTTATGTGAGAACTTTGTAGGCTTTTTACTCAAATATGAGATATACTAAGAAAAGGGAAGCACTTCACAACATTTTACAGAATCTTTTTTCCTTTCTTTCCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTTTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCAACCTCCACCTCCCGGGTTCAAGTGATTCTCATGTCTCAGCTCCCAAGTAGCTGGGATTTCAGCCATGTGCCACCACACCCAGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGGTGGTCTCGAACTCCTGAGCTCAAGCAATCCTCTTGCCTCAGCCTCCCAAAGTGCTGCGATTACGGGCGTGAGCCACCATGCTCAGCCATTTTTATCTTACCTTTCATATTTAAAAAATATATATTGCTATGATGTGTGATTATTGTTGGGTTCTTGGTTGCCTCTGGAAAATGGGATGATAATCTTAGAAGGACTTGCTTCATGGGATGCGGCCTATAAAAGTTCTGCCCCAACTGTAGGGCGGAAGATAATTTTCGTTATTGTAGTTAGAGTCTTATTGTAGAGAATCAGACTTCTGTCTAGTGACCTTAATTAAATTGTGACACCATGCTTAAAGGAGCCTGCCAGCTTTTACTTTTGCAGTACTGTAAAGTCATTATTCAAATGTAAATTTTCCTTTTTGAATTTTAGCTTGAATTAGAGTCTGTCAAAGCCCAGTCTTTGGCAATAACAAAACAAAACCATATGCTGAATGAAAAGGTTAAAGAGATGAGTGATTATTCACTACTAAAAGAAGAGAAACTGGAGCTTCTGGCACAAAATAAATTACTTAAACAACAACTGGAAGAGAGTAGAAATGAAAACCTGCGTCTCCTAAACCGTATGTATTTTTCTTTTCTTCTGACTTGCGTGTTTTAGTAATTCGCATTAGGTCAGTATTATAAAACTATGCTTTGTACTTGTATAAGGTAGGGGGCTTACATTGGGAAGATTTATAAAATTAAGATTCTTGGATTAAACTCTGCAAACCTGCCTATAGGTGGTATCAAAGCTTCCCTTGCCCTCTGACTGCTGATTGGGTTTGGCCAGTGGGGACACCAGCCTCTACATACAGTGGCCCTAGGCTGGCCACTGTGCCTCATGGCCAAGTGAGGCCATAGTGCCTGCGATTACCTCTTCCAAGTGCTCTGCACCACCACCCTGTCTCTAGTGCTGAGAATTTCTCCCTCCTCTGATTCCCCAGGCCCAAGGAGCGCTAACAGTATGGCCCTGTTACTAGCCCACCCAGGGAACTCCACCATCCTTTGTGCATACCCTGAATAAGTCAACCTTTATTAAAGGGTTCTTAGATGACCTTGACCGTGAGANNNN
|
pathogenic
| 329,904 |
Evaluate if the mutation on chromosome X at position 13756718 in OFD1 (OFD1 centriole and centriolar satellite protein) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Orofaciodigital_syndrome_I']
|
AGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTACTATCTTGTGGAGACTAATACTTCTTTTATGCATTAATACCATTACGTATGTAACAAATTATGGTTTGATGATATATCTACATAGACTTGTGTTAGATGAAGTGAAAACTACAAAATAGTAACTACAATATAGTAACAGACAGATCTTTGTCTTCAAGGAAGTTAAGAGCTGTGGGTATTAGGGCCCTGTGCTTTGAGCACATGGTATAACTCTGGTTAGCATGTATAGCAAGTGGAATTTCACCACATATATGACAGTTACAGCTTCACATCACCTGTTGGGTAACAGGGTTTATTTCTTACTTGCCCGCTACATCTGCTATTTGGATTGTGAAATAGTGGTCATTAGGTCTGACATACTGGCCATAAATATTAAATGGCTTTTGTATTCACTAGGAAAACATTATGGTGTTTAATTGGTGGGCTCTTTTTTCAGAAAAAGCTGTTCATTTGCAAGAGGAGCTCATAGCTATTAATTCAAAAAAGGAGGAACTCAATCAATCTGTAAATCGTGTGAAAGAACTTGAGGTAATTGTTAAGCATGTTGGTTTTTGAAATAGATTTTAAGCAATATATGAAATTTTAGTCATACATAATTTATCCTAAGTCATCCTGTTGAGATGTTTGGACTGCCATTTATATGGCTAAGAAGGTGTTAGCTGAAGTTAATTCAATAGTTCTTAATTTCAGTCAGTGTCACATAGGAAAGTGTAGATAGAGCTTTGGGTCCTGGAGTCCTGCCCACATCCTGTCTGTGTCTCTAACTGCTTGTGTGTCGCTAGGTAAGTTCTGTGACTGCAGGTTCCTGAGCTGTAAACTAGGATGTTTTCCACATTATAGGGTTGTTGAGGGAATTCAGTAAGCTAACTTATGTGCCTAGTTCATAGCAGGTGGCCATTACTATTAGTTTCTACATCAGCCTGTTATCTCCTTCCATCAGCAGCAGGTAAACAAAATTCCTGTCATTACATTGTTATCTTACAGATTAAAACAAAATGAGGTACATTTTTCACATATCATTGCTTCTTTACTTTTCTGTTCATTCGTGTGCTTGCTGTCTGAAGGATGAAGCTGGAACTTTAGGTACTTACAACATATTTTGTATATGAAATTTATTTTAGCAACTGTGACTTATGTGAGAACTTTGTAGGCTTTTTACTCAAATATGAGATATACTAAGAAAAGGGAAGCACTTCACAACATTTTACAGAATCTTTTTTCCTTTCTTTCCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTTTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCAACCTCCACCTCCCGGGTTCAAGTGATTCTCATGTCTCAGCTCCCAAGTAGCTGGGATTTCAGCCATGTGCCACCACACCCAGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGGTGGTCTCGAACTCCTGAGCTCAAGCAATCCTCTTGCCTCAGCCTCCCAAAGTGCTGCGATTACGGGCGTGAGCCACCATGCTCAGCCATTTTTATCTTACCTTTCATATTTAAAAAATATATATTGCTATGATGTGTGATTATTGTTGGGTTCTTGGTTGCCTCTGGAAAATGGGATGATAATCTTAGAAGGACTTGCTTCATGGGATGCGGCCTATAAAAGTTCTGCCCCAACTGTAGGGCGGAAGATAATTTTCGTTATTGTAGTTAGAGTCTTATTGTAGAGAATCAGACTTCTGTCTAGTGACCTTAATTAAATTGTGACACCATGCTTAAAGGAGCCTGCCAGCTTTTACTTTTGCAGTACTGTAAAGTCATTATTCAAATGTAAATTTTCCTTTTTGAATTTTAGCTTGAATTAGAGTCTGTCAAAGCCCAGTCTTTGGCAATAACAAAACAAAACCATATGCTGAATGAAAAGGTTAAAGAGATGAGTGATTATTCACTACTAAAAGAAGAGAAACTGGAGCTTCTGGCACAAAATAAATTACTTAAACAACAACTGGAAGAGAGTAGAAATGAAAACCTGCGTCTCCTAAACCGTATGTATTTTTCTTTTCTTCTGACTTGCGTGTTTTAGTAATTCGCATTAGGTCAGTATTATAAAACTATGCTTTGTACTTGTATAAGGTAGGGGGCTTACATTGGGAAGATTTATAAAATTAAGATTCTTGGATTAAACTCTGCAAACCTGCCTATAGGTGGTATCAAAGCTTCCCTTGCCCTCTGACTGCTGATTGGGTTTGGCCAGTGGGGACACCAGCCTCTACATACAGTGGCCCTAGGCTGGCCACTGTGCCTCATGGCCAAGTGAGGCCATAGTGCCTGCGATTACCTCTTCCAAGTGCTCTGCACCACCACCCTGTCTCTAGTGCTGAGAATTTCTCCCTCCTCTGATTCCCCAGGCCCAAGGAGCGCTAACAGTATGGCCCTGTTACTAGCCCACCCAGGGAACTCCACCATCCTTTGTGCATACCCTGAATAAGTCAACCTTTATTAAAGGGTTCTTAGATGACCTTGACCGTGAGAGCCATCTGCCTTCTGCCTGGATCCCAACTGCTGCTGTCAGATGCCCAGATCATATTGGATCCCAGGGCTGTCATCAACAGGTAGACCAGATAGAGAGCTCCTTCTGTGCACAGTAGAGGAGAGAAACAGGCTTTCAGGTTAATTTGAGAATTTGAAAGAGTTCTTTTACTTGGAGTAGGACTCCAAGGGTAATAAAGTTTGCATTAACATGCACTAAATTCTTTTGTTGTGAAATTTGAGAGTCAGGATTGCTCTGAGCTCATTTAATAGAATTATTATCATATTTATTGAGTCAGTACAAAGCAAAGAACACTTTAAAACCCCTTTAACTGTTTTTGTTAAGTTAAATAAGAAAACTTAAGGTTGGTAATGACTAGGATTTTTTTTTTTTTTTTACCTTCTTAGGCCTAGCTCAGCCGGCTCCTGAACTTGCAGTCTTTCAGAAAGAACTACGGAAAGCCGAAAAGGCTATAGTGGTTGAGCATGAGGAGTTCGAAAGCTGCAGGCAAGCTCTGCACAAACAACTGCAAGACGAAGTGAGTATTGCTCTTCTTCAGTTCTAGTGTGATACCAGTACACTTCATAGTTACGTAAACTTGGCACAAGTCACACTAGTGTAAATCAGATTTATTTTAACATCAAACATTACTCCCCCAAATATGCTAAAGGTATCCTTTCTCATCTGAGAAAATTCTGCAGTGATAACGTGACTTTATATTCGTAATAGTAATAAAATGGAGAAGAAAGCAAACTCACCTAAACATAAAATTTTCTGAGTGCCTGATGGTGCCCACTGTTATCTCTCGATTCTCACCCTGATAAGTATTACAAACATTCACTGTCTTCTGATTTCTGCCTGCATGCCCTAGAGTTCTTTGATATGACTGAAAAAGATGGTGAAGAACTTGTTTGTGTGTTCTGCTTGTGTTTTTTTTTAATAGGGACCCTGTTGTTTACTGTCATAAAGCTTCTTGGAATTGGCAGAACAAAAAGAGTACAAACATGATAAGAGAACTTTTCCTTTTGAAGCAAGCTGTGATTTGTTTTACATTGATTTCTTTTCCTATTCTGAATCTTTTCAGATTGAGCATTCTGCACAGCTGAAGGCCCAGATTCTAGGTTACAAAGCTTCTGTAAAGAGTTTAACTACTCAGGTTGCCGATTTAAAATTGCAACTGAAGCAAACTCAGACAGGTTAGAGACGTTTTAACCCATAAATATTTTTGTATGTATAAAGCTTCTGGTGTCTGTGAAAATGTAATGATCATAATTTATTGAATATTAATTATTGTTTTAGGGGAAAAGCCATAGAAATATGTGTCATCTTAGAAGTAAAACTCCCTATCCATTTTGGTAATACCATCTGGATCATCAGCAAAAGTATTTTGCTTCATAGGTGCCTCATGGCTTGGGAGAGTCTCATGCCCCAATAGGAAAGGCGTGGTGGTAACATAGAAGTCCCCATATTCATTATAGGATTTCCTTTTTTATTTGTTACCCCAATGTTAACA
|
AGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTACTATCTTGTGGAGACTAATACTTCTTTTATGCATTAATACCATTACGTATGTAACAAATTATGGTTTGATGATATATCTACATAGACTTGTGTTAGATGAAGTGAAAACTACAAAATAGTAACTACAATATAGTAACAGACAGATCTTTGTCTTCAAGGAAGTTAAGAGCTGTGGGTATTAGGGCCCTGTGCTTTGAGCACATGGTATAACTCTGGTTAGCATGTATAGCAAGTGGAATTTCACCACATATATGACAGTTACAGCTTCACATCACCTGTTGGGTAACAGGGTTTATTTCTTACTTGCCCGCTACATCTGCTATTTGGATTGTGAAATAGTGGTCATTAGGTCTGACATACTGGCCATAAATATTAAATGGCTTTTGTATTCACTAGGAAAACATTATGGTGTTTAATTGGTGGGCTCTTTTTTCAGAAAAAGCTGTTCATTTGCAAGAGGAGCTCATAGCTATTAATTCAAAAAAGGAGGAACTCAATCAATCTGTAAATCGTGTGAAAGAACTTGAGGTAATTGTTAAGCATGTTGGTTTTTGAAATAGATTTTAAGCAATATATGAAATTTTAGTCATACATAATTTATCCTAAGTCATCCTGTTGAGATGTTTGGACTGCCATTTATATGGCTAAGAAGGTGTTAGCTGAAGTTAATTCAATAGTTCTTAATTTCAGTCAGTGTCACATAGGAAAGTGTAGATAGAGCTTTGGGTCCTGGAGTCCTGCCCACATCCTGTCTGTGTCTCTAACTGCTTGTGTGTCGCTAGGTAAGTTCTGTGACTGCAGGTTCCTGAGCTGTAAACTAGGATGTTTTCCACATTATAGGGTTGTTGAGGGAATTCAGTAAGCTAACTTATGTGCCTAGTTCATAGCAGGTGGCCATTACTATTAGTTTCTACATCAGCCTGTTATCTCCTTCCATCAGCAGCAGGTAAACAAAATTCCTGTCATTACATTGTTATCTTACAGATTAAAACAAAATGAGGTACATTTTTCACATATCATTGCTTCTTTACTTTTCTGTTCATTCGTGTGCTTGCTGTCTGAAGGATGAAGCTGGAACTTTAGGTACTTACAACATATTTTGTATATGAAATTTATTTTAGCAACTGTGACTTATGTGAGAACTTTGTAGGCTTTTTACTCAAATATGAGATATACTAAGAAAAGGGAAGCACTTCACAACATTTTACAGAATCTTTTTTCCTTTCTTTCCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTTTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCAACCTCCACCTCCCGGGTTCAAGTGATTCTCATGTCTCAGCTCCCAAGTAGCTGGGATTTCAGCCATGTGCCACCACACCCAGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGGTGGTCTCGAACTCCTGAGCTCAAGCAATCCTCTTGCCTCAGCCTCCCAAAGTGCTGCGATTACGGGCGTGAGCCACCATGCTCAGCCATTTTTATCTTACCTTTCATATTTAAAAAATATATATTGCTATGATGTGTGATTATTGTTGGGTTCTTGGTTGCCTCTGGAAAATGGGATGATAATCTTAGAAGGACTTGCTTCATGGGATGCGGCCTATAAAAGTTCTGCCCCAACTGTAGGGCGGAAGATAATTTTCGTTATTGTAGTTAGAGTCTTATTGTAGAGAATCAGACTTCTGTCTAGTGACCTTAATTAAATTGTGACACCATGCTTAAAGGAGCCTGCCAGCTTTTACTTTTGCAGTACTGTAAAGTCATTATTCAAATGTAAATTTTCCTTTTTGAATTTTAGCTTGAATTAGAGTCTGTCAAAGCCCAGTCTTTGGCAATAACAAAACAAAACCATATGCTGAATGAAAAGGTTAAAGAGATGAGTGATTATTCACTACTAAAAGAAGAGAAACTGGAGCTTCTGGCACAAAATAAATTACTTAACAACTGGAAGAGAGTAGAAATGAAAACCTGCGTCTCCTAAACCGTATGTATTTTTCTTTTCTTCTGACTTGCGTGTTTTAGTAATTCGCATTAGGTCAGTATTATAAAACTATGCTTTGTACTTGTATAAGGTAGGGGGCTTACATTGGGAAGATTTATAAAATTAAGATTCTTGGATTAAACTCTGCAAACCTGCCTATAGGTGGTATCAAAGCTTCCCTTGCCCTCTGACTGCTGATTGGGTTTGGCCAGTGGGGACACCAGCCTCTACATACAGTGGCCCTAGGCTGGCCACTGTGCCTCATGGCCAAGTGAGGCCATAGTGCCTGCGATTACCTCTTCCAAGTGCTCTGCACCACCACCCTGTCTCTAGTGCTGAGAATTTCTCCCTCCTCTGATTCCCCAGGCCCAAGGAGCGCTAACAGTATGGCCCTGTTACTAGCCCACCCAGGGAACTCCACCATCCTTTGTGCATACCCTGAATAAGTCAACCTTTATTAAAGGGTTCTTAGATGACCTTGACCGTGAGAGCCATCTGCCTTCTGCCTGGATCCCAACTGCTGCTGTCAGATGCCCAGATCATATTGGATCCCAGGGCTGTCATCAACAGGTAGACCAGATAGAGAGCTCCTTCTGTGCACAGTAGAGGAGAGAAACAGGCTTTCAGGTTAATTTGAGAATTTGAAAGAGTTCTTTTACTTGGAGTAGGACTCCAAGGGTAATAAAGTTTGCATTAACATGCACTAAATTCTTTTGTTGTGAAATTTGAGAGTCAGGATTGCTCTGAGCTCATTTAATAGAATTATTATCATATTTATTGAGTCAGTACAAAGCAAAGAACACTTTAAAACCCCTTTAACTGTTTTTGTTAAGTTAAATAAGAAAACTTAAGGTTGGTAATGACTAGGATTTTTTTTTTTTTTTTACCTTCTTAGGCCTAGCTCAGCCGGCTCCTGAACTTGCAGTCTTTCAGAAAGAACTACGGAAAGCCGAAAAGGCTATAGTGGTTGAGCATGAGGAGTTCGAAAGCTGCAGGCAAGCTCTGCACAAACAACTGCAAGACGAAGTGAGTATTGCTCTTCTTCAGTTCTAGTGTGATACCAGTACACTTCATAGTTACGTAAACTTGGCACAAGTCACACTAGTGTAAATCAGATTTATTTTAACATCAAACATTACTCCCCCAAATATGCTAAAGGTATCCTTTCTCATCTGAGAAAATTCTGCAGTGATAACGTGACTTTATATTCGTAATAGTAATAAAATGGAGAAGAAAGCAAACTCACCTAAACATAAAATTTTCTGAGTGCCTGATGGTGCCCACTGTTATCTCTCGATTCTCACCCTGATAAGTATTACAAACATTCACTGTCTTCTGATTTCTGCCTGCATGCCCTAGAGTTCTTTGATATGACTGAAAAAGATGGTGAAGAACTTGTTTGTGTGTTCTGCTTGTGTTTTTTTTTAATAGGGACCCTGTTGTTTACTGTCATAAAGCTTCTTGGAATTGGCAGAACAAAAAGAGTACAAACATGATAAGAGAACTTTTCCTTTTGAAGCAAGCTGTGATTTGTTTTACATTGATTTCTTTTCCTATTCTGAATCTTTTCAGATTGAGCATTCTGCACAGCTGAAGGCCCAGATTCTAGGTTACAAAGCTTCTGTAAAGAGTTTAACTACTCAGGTTGCCGATTTAAAATTGCAACTGAAGCAAACTCAGACAGGTTAGAGACGTTTTAACCCATAAATATTTTTGTATGTATAAAGCTTCTGGTGTCTGTGAAAATGTAATGATCATAATTTATTGAATATTAATTATTGTTTTAGGGGAAAAGCCATAGAAATATGTGTCATCTTAGAAGTAAAACTCCCTATCCATTTTGGTAATACCATCTGGATCATCAGCAAAAGTATTTTGCTTCATAGGTGCCTCATGGCTTGGGAGAGTCTCATGCCCCAATAGGAAAGGCGTGGTGGTAACATAGAAGTCCCCATATTCATTATAGGATTTCCTTTTTTATTTGTTACCCCAATGTTAACANNNN
|
pathogenic
| 329,909 |
Is the genetic change at chromosome X, position 13757633, within gene OFD1 (OFD1 centriole and centriolar satellite protein) benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
ATGTGCCTAGTTCATAGCAGGTGGCCATTACTATTAGTTTCTACATCAGCCTGTTATCTCCTTCCATCAGCAGCAGGTAAACAAAATTCCTGTCATTACATTGTTATCTTACAGATTAAAACAAAATGAGGTACATTTTTCACATATCATTGCTTCTTTACTTTTCTGTTCATTCGTGTGCTTGCTGTCTGAAGGATGAAGCTGGAACTTTAGGTACTTACAACATATTTTGTATATGAAATTTATTTTAGCAACTGTGACTTATGTGAGAACTTTGTAGGCTTTTTACTCAAATATGAGATATACTAAGAAAAGGGAAGCACTTCACAACATTTTACAGAATCTTTTTTCCTTTCTTTCCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTTTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCAACCTCCACCTCCCGGGTTCAAGTGATTCTCATGTCTCAGCTCCCAAGTAGCTGGGATTTCAGCCATGTGCCACCACACCCAGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGGTGGTCTCGAACTCCTGAGCTCAAGCAATCCTCTTGCCTCAGCCTCCCAAAGTGCTGCGATTACGGGCGTGAGCCACCATGCTCAGCCATTTTTATCTTACCTTTCATATTTAAAAAATATATATTGCTATGATGTGTGATTATTGTTGGGTTCTTGGTTGCCTCTGGAAAATGGGATGATAATCTTAGAAGGACTTGCTTCATGGGATGCGGCCTATAAAAGTTCTGCCCCAACTGTAGGGCGGAAGATAATTTTCGTTATTGTAGTTAGAGTCTTATTGTAGAGAATCAGACTTCTGTCTAGTGACCTTAATTAAATTGTGACACCATGCTTAAAGGAGCCTGCCAGCTTTTACTTTTGCAGTACTGTAAAGTCATTATTCAAATGTAAATTTTCCTTTTTGAATTTTAGCTTGAATTAGAGTCTGTCAAAGCCCAGTCTTTGGCAATAACAAAACAAAACCATATGCTGAATGAAAAGGTTAAAGAGATGAGTGATTATTCACTACTAAAAGAAGAGAAACTGGAGCTTCTGGCACAAAATAAATTACTTAAACAACAACTGGAAGAGAGTAGAAATGAAAACCTGCGTCTCCTAAACCGTATGTATTTTTCTTTTCTTCTGACTTGCGTGTTTTAGTAATTCGCATTAGGTCAGTATTATAAAACTATGCTTTGTACTTGTATAAGGTAGGGGGCTTACATTGGGAAGATTTATAAAATTAAGATTCTTGGATTAAACTCTGCAAACCTGCCTATAGGTGGTATCAAAGCTTCCCTTGCCCTCTGACTGCTGATTGGGTTTGGCCAGTGGGGACACCAGCCTCTACATACAGTGGCCCTAGGCTGGCCACTGTGCCTCATGGCCAAGTGAGGCCATAGTGCCTGCGATTACCTCTTCCAAGTGCTCTGCACCACCACCCTGTCTCTAGTGCTGAGAATTTCTCCCTCCTCTGATTCCCCAGGCCCAAGGAGCGCTAACAGTATGGCCCTGTTACTAGCCCACCCAGGGAACTCCACCATCCTTTGTGCATACCCTGAATAAGTCAACCTTTATTAAAGGGTTCTTAGATGACCTTGACCGTGAGAGCCATCTGCCTTCTGCCTGGATCCCAACTGCTGCTGTCAGATGCCCAGATCATATTGGATCCCAGGGCTGTCATCAACAGGTAGACCAGATAGAGAGCTCCTTCTGTGCACAGTAGAGGAGAGAAACAGGCTTTCAGGTTAATTTGAGAATTTGAAAGAGTTCTTTTACTTGGAGTAGGACTCCAAGGGTAATAAAGTTTGCATTAACATGCACTAAATTCTTTTGTTGTGAAATTTGAGAGTCAGGATTGCTCTGAGCTCATTTAATAGAATTATTATCATATTTATTGAGTCAGTACAAAGCAAAGAACACTTTAAAACCCCTTTAACTGTTTTTGTTAAGTTAAATAAGAAAACTTAAGGTTGGTAATGACTAGGATTTTTTTTTTTTTTTTACCTTCTTAGGCCTAGCTCAGCCGGCTCCTGAACTTGCAGTCTTTCAGAAAGAACTACGGAAAGCCGAAAAGGCTATAGTGGTTGAGCATGAGGAGTTCGAAAGCTGCAGGCAAGCTCTGCACAAACAACTGCAAGACGAAGTGAGTATTGCTCTTCTTCAGTTCTAGTGTGATACCAGTACACTTCATAGTTACGTAAACTTGGCACAAGTCACACTAGTGTAAATCAGATTTATTTTAACATCAAACATTACTCCCCCAAATATGCTAAAGGTATCCTTTCTCATCTGAGAAAATTCTGCAGTGATAACGTGACTTTATATTCGTAATAGTAATAAAATGGAGAAGAAAGCAAACTCACCTAAACATAAAATTTTCTGAGTGCCTGATGGTGCCCACTGTTATCTCTCGATTCTCACCCTGATAAGTATTACAAACATTCACTGTCTTCTGATTTCTGCCTGCATGCCCTAGAGTTCTTTGATATGACTGAAAAAGATGGTGAAGAACTTGTTTGTGTGTTCTGCTTGTGTTTTTTTTTAATAGGGACCCTGTTGTTTACTGTCATAAAGCTTCTTGGAATTGGCAGAACAAAAAGAGTACAAACATGATAAGAGAACTTTTCCTTTTGAAGCAAGCTGTGATTTGTTTTACATTGATTTCTTTTCCTATTCTGAATCTTTTCAGATTGAGCATTCTGCACAGCTGAAGGCCCAGATTCTAGGTTACAAAGCTTCTGTAAAGAGTTTAACTACTCAGGTTGCCGATTTAAAATTGCAACTGAAGCAAACTCAGACAGGTTAGAGACGTTTTAACCCATAAATATTTTTGTATGTATAAAGCTTCTGGTGTCTGTGAAAATGTAATGATCATAATTTATTGAATATTAATTATTGTTTTAGGGGAAAAGCCATAGAAATATGTGTCATCTTAGAAGTAAAACTCCCTATCCATTTTGGTAATACCATCTGGATCATCAGCAAAAGTATTTTGCTTCATAGGTGCCTCATGGCTTGGGAGAGTCTCATGCCCCAATAGGAAAGGCGTGGTGGTAACATAGAAGTCCCCATATTCATTATAGGATTTCCTTTTTTATTTGTTACCCCAATGTTAACACCAATTCAGTAGTTTTACGGATTCCTTGATAGATATATAAATATACAGGACAAGCAGGGTGGTTTAGCAAAAAGAATATTGCCTTCAGAATCAGAACTGTTCTTCTTTTGGACCCGTTTTGAAGTTGTTTGACCTTGGGCATGTTACTTTAACTTCCTTGGGCCTCAGTCTCCTCATTTGTAATGGGGATAATAATACCTACTGAGCCATGATGAAAAAGATGAAATGGGTTTCAGTCCAGTGCCTGGGACATAAAAGACACTCAGGAAATGGTTATTGGTATCATTTTATTATTGTGTCTTCACTGTGGATGCATCTCTGCCCCTTCCTACTTCGTAAGAAGGATATTAAAGTTCAGATACTTTATTCTTCAGTTGCTTTCAAGTTCAAAGAAAGTACGTATGTGTTACCAGTTCAACTGGGTCTGAGCCTTCCTTGTTCCCACCTGCATTGTTTCCTCATCAGCTCCTTGCTCTCTTCTACCAGCACTTGTTTTATTTTTATCTCTACTCGTTTCTGCTTTTTTCTGTTCCTCATTTTCTTTCAGTTCTGTTTGTGAAACTTCTCACAGCTGAAATCATAGCAGTCTCCTATCAATAAAAAATAGTTGAATGAGGATAGAACTCTTTCGCATGCATGTGTTGCCGAGGGCAAGCTTCTTTCTTGTAGCATCACGGGGAGGCATTGCAGGAGAGAGGGGCAGGTGCACTGGCTTTGCATTAGGAAAGCCCAGTAGCTCTTAGACTTGCTAACCGTGTGACCCAGCCTCAGTAAGCTTTAGTCCCCCCATCTGTAAAATGGGAGCAGTGAGAGTTTCTTGACCACAGTGTTGTTGTGAATGCAGGTCCTCACTTCCTTATATGAAACTCGGGCCATATGCTGTGGATTTCGCAATAGCCCTGGGAGTTCTGAACA
|
ATGTGCCTAGTTCATAGCAGGTGGCCATTACTATTAGTTTCTACATCAGCCTGTTATCTCCTTCCATCAGCAGCAGGTAAACAAAATTCCTGTCATTACATTGTTATCTTACAGATTAAAACAAAATGAGGTACATTTTTCACATATCATTGCTTCTTTACTTTTCTGTTCATTCGTGTGCTTGCTGTCTGAAGGATGAAGCTGGAACTTTAGGTACTTACAACATATTTTGTATATGAAATTTATTTTAGCAACTGTGACTTATGTGAGAACTTTGTAGGCTTTTTACTCAAATATGAGATATACTAAGAAAAGGGAAGCACTTCACAACATTTTACAGAATCTTTTTTCCTTTCTTTCCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTTTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCAACCTCCACCTCCCGGGTTCAAGTGATTCTCATGTCTCAGCTCCCAAGTAGCTGGGATTTCAGCCATGTGCCACCACACCCAGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGGTGGTCTCGAACTCCTGAGCTCAAGCAATCCTCTTGCCTCAGCCTCCCAAAGTGCTGCGATTACGGGCGTGAGCCACCATGCTCAGCCATTTTTATCTTACCTTTCATATTTAAAAAATATATATTGCTATGATGTGTGATTATTGTTGGGTTCTTGGTTGCCTCTGGAAAATGGGATGATAATCTTAGAAGGACTTGCTTCATGGGATGCGGCCTATAAAAGTTCTGCCCCAACTGTAGGGCGGAAGATAATTTTCGTTATTGTAGTTAGAGTCTTATTGTAGAGAATCAGACTTCTGTCTAGTGACCTTAATTAAATTGTGACACCATGCTTAAAGGAGCCTGCCAGCTTTTACTTTTGCAGTACTGTAAAGTCATTATTCAAATGTAAATTTTCCTTTTTGAATTTTAGCTTGAATTAGAGTCTGTCAAAGCCCAGTCTTTGGCAATAACAAAACAAAACCATATGCTGAATGAAAAGGTTAAAGAGATGAGTGATTATTCACTACTAAAAGAAGAGAAACTGGAGCTTCTGGCACAAAATAAATTACTTAAACAACAACTGGAAGAGAGTAGAAATGAAAACCTGCGTCTCCTAAACCGTATGTATTTTTCTTTTCTTCTGACTTGCGTGTTTTAGTAATTCGCATTAGGTCAGTATTATAAAACTATGCTTTGTACTTGTATAAGGTAGGGGGCTTACATTGGGAAGATTTATAAAATTAAGATTCTTGGATTAAACTCTGCAAACCTGCCTATAGGTGGTATCAAAGCTTCCCTTGCCCTCTGACTGCTGATTGGGTTTGGCCAGTGGGGACACCAGCCTCTACATACAGTGGCCCTAGGCTGGCCACTGTGCCTCATGGCCAAGTGAGGCCATAGTGCCTGCGATTACCTCTTCCAAGTGCTCTGCACCACCACCCTGTCTCTAGTGCTGAGAATTTCTCCCTCCTCTGATTCCCCAGGCCCAAGGAGCGCTAACAGTATGGCCCTGTTACTAGCCCACCCAGGGAACTCCACCATCCTTTGTGCATACCCTGAATAAGTCAACCTTTATTAAAGGGTTCTTAGATGACCTTGACCGTGAGAGCCATCTGCCTTCTGCCTGGATCCCAACTGCTGCTGTCAGATGCCCAGATCATATTGGATCCCAGGGCTGTCATCAACAGGTAGACCAGATAGAGAGCTCCTTCTGTGCACAGTAGAGGAGAGAAACAGGCTTTCAGGTTAATTTGAGAATTTGAAAGAGTTCTTTTACTTGGAGTAGGACTCCAAGGGTAATAAAGTTTGCATTAACATGCACTAAATTCTTTTGTTGTGAAATTTGAGAGTCAGGATTGCTCTGAGCTCATTTAATAGAATTATTATCATATTTATTGAGTCAGTACAAAGCAAAGAACACTTTAAAACCCCTTTAACTGTTTTTGTTAAGTTAAATAAGAAAACTTAAGGTTGGTAATGACTAGGATTTTTTTTTTTTTTTACCTTCTTAGGCCTAGCTCAGCCGGCTCCTGAACTTGCAGTCTTTCAGAAAGAACTACGGAAAGCCGAAAAGGCTATAGTGGTTGAGCATGAGGAGTTCGAAAGCTGCAGGCAAGCTCTGCACAAACAACTGCAAGACGAAGTGAGTATTGCTCTTCTTCAGTTCTAGTGTGATACCAGTACACTTCATAGTTACGTAAACTTGGCACAAGTCACACTAGTGTAAATCAGATTTATTTTAACATCAAACATTACTCCCCCAAATATGCTAAAGGTATCCTTTCTCATCTGAGAAAATTCTGCAGTGATAACGTGACTTTATATTCGTAATAGTAATAAAATGGAGAAGAAAGCAAACTCACCTAAACATAAAATTTTCTGAGTGCCTGATGGTGCCCACTGTTATCTCTCGATTCTCACCCTGATAAGTATTACAAACATTCACTGTCTTCTGATTTCTGCCTGCATGCCCTAGAGTTCTTTGATATGACTGAAAAAGATGGTGAAGAACTTGTTTGTGTGTTCTGCTTGTGTTTTTTTTTAATAGGGACCCTGTTGTTTACTGTCATAAAGCTTCTTGGAATTGGCAGAACAAAAAGAGTACAAACATGATAAGAGAACTTTTCCTTTTGAAGCAAGCTGTGATTTGTTTTACATTGATTTCTTTTCCTATTCTGAATCTTTTCAGATTGAGCATTCTGCACAGCTGAAGGCCCAGATTCTAGGTTACAAAGCTTCTGTAAAGAGTTTAACTACTCAGGTTGCCGATTTAAAATTGCAACTGAAGCAAACTCAGACAGGTTAGAGACGTTTTAACCCATAAATATTTTTGTATGTATAAAGCTTCTGGTGTCTGTGAAAATGTAATGATCATAATTTATTGAATATTAATTATTGTTTTAGGGGAAAAGCCATAGAAATATGTGTCATCTTAGAAGTAAAACTCCCTATCCATTTTGGTAATACCATCTGGATCATCAGCAAAAGTATTTTGCTTCATAGGTGCCTCATGGCTTGGGAGAGTCTCATGCCCCAATAGGAAAGGCGTGGTGGTAACATAGAAGTCCCCATATTCATTATAGGATTTCCTTTTTTATTTGTTACCCCAATGTTAACACCAATTCAGTAGTTTTACGGATTCCTTGATAGATATATAAATATACAGGACAAGCAGGGTGGTTTAGCAAAAAGAATATTGCCTTCAGAATCAGAACTGTTCTTCTTTTGGACCCGTTTTGAAGTTGTTTGACCTTGGGCATGTTACTTTAACTTCCTTGGGCCTCAGTCTCCTCATTTGTAATGGGGATAATAATACCTACTGAGCCATGATGAAAAAGATGAAATGGGTTTCAGTCCAGTGCCTGGGACATAAAAGACACTCAGGAAATGGTTATTGGTATCATTTTATTATTGTGTCTTCACTGTGGATGCATCTCTGCCCCTTCCTACTTCGTAAGAAGGATATTAAAGTTCAGATACTTTATTCTTCAGTTGCTTTCAAGTTCAAAGAAAGTACGTATGTGTTACCAGTTCAACTGGGTCTGAGCCTTCCTTGTTCCCACCTGCATTGTTTCCTCATCAGCTCCTTGCTCTCTTCTACCAGCACTTGTTTTATTTTTATCTCTACTCGTTTCTGCTTTTTTCTGTTCCTCATTTTCTTTCAGTTCTGTTTGTGAAACTTCTCACAGCTGAAATCATAGCAGTCTCCTATCAATAAAAAATAGTTGAATGAGGATAGAACTCTTTCGCATGCATGTGTTGCCGAGGGCAAGCTTCTTTCTTGTAGCATCACGGGGAGGCATTGCAGGAGAGAGGGGCAGGTGCACTGGCTTTGCATTAGGAAAGCCCAGTAGCTCTTAGACTTGCTAACCGTGTGACCCAGCCTCAGTAAGCTTTAGTCCCCCCATCTGTAAAATGGGAGCAGTGAGAGTTTCTTGACCACAGTGTTGTTGTGAATGCAGGTCCTCACTTCCTTATATGAAACTCGGGCCATATGCTGTGGATTTCGCAATAGCCCTGGGAGTTCTGAACAN
|
benign
| 329,911 |
Variant at chromosome position 13760436, chromosome X, gene OFD1 (OFD1 centriole and centriolar satellite protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Orofaciodigital_syndrome_I']
|
GTAAAGAGTTTAACTACTCAGGTTGCCGATTTAAAATTGCAACTGAAGCAAACTCAGACAGGTTAGAGACGTTTTAACCCATAAATATTTTTGTATGTATAAAGCTTCTGGTGTCTGTGAAAATGTAATGATCATAATTTATTGAATATTAATTATTGTTTTAGGGGAAAAGCCATAGAAATATGTGTCATCTTAGAAGTAAAACTCCCTATCCATTTTGGTAATACCATCTGGATCATCAGCAAAAGTATTTTGCTTCATAGGTGCCTCATGGCTTGGGAGAGTCTCATGCCCCAATAGGAAAGGCGTGGTGGTAACATAGAAGTCCCCATATTCATTATAGGATTTCCTTTTTTATTTGTTACCCCAATGTTAACACCAATTCAGTAGTTTTACGGATTCCTTGATAGATATATAAATATACAGGACAAGCAGGGTGGTTTAGCAAAAAGAATATTGCCTTCAGAATCAGAACTGTTCTTCTTTTGGACCCGTTTTGAAGTTGTTTGACCTTGGGCATGTTACTTTAACTTCCTTGGGCCTCAGTCTCCTCATTTGTAATGGGGATAATAATACCTACTGAGCCATGATGAAAAAGATGAAATGGGTTTCAGTCCAGTGCCTGGGACATAAAAGACACTCAGGAAATGGTTATTGGTATCATTTTATTATTGTGTCTTCACTGTGGATGCATCTCTGCCCCTTCCTACTTCGTAAGAAGGATATTAAAGTTCAGATACTTTATTCTTCAGTTGCTTTCAAGTTCAAAGAAAGTACGTATGTGTTACCAGTTCAACTGGGTCTGAGCCTTCCTTGTTCCCACCTGCATTGTTTCCTCATCAGCTCCTTGCTCTCTTCTACCAGCACTTGTTTTATTTTTATCTCTACTCGTTTCTGCTTTTTTCTGTTCCTCATTTTCTTTCAGTTCTGTTTGTGAAACTTCTCACAGCTGAAATCATAGCAGTCTCCTATCAATAAAAAATAGTTGAATGAGGATAGAACTCTTTCGCATGCATGTGTTGCCGAGGGCAAGCTTCTTTCTTGTAGCATCACGGGGAGGCATTGCAGGAGAGAGGGGCAGGTGCACTGGCTTTGCATTAGGAAAGCCCAGTAGCTCTTAGACTTGCTAACCGTGTGACCCAGCCTCAGTAAGCTTTAGTCCCCCCATCTGTAAAATGGGAGCAGTGAGAGTTTCTTGACCACAGTGTTGTTGTGAATGCAGGTCCTCACTTCCTTATATGAAACTCGGGCCATATGCTGTGGATTTCGCAATAGCCCTGGGAGTTCTGAACAGCATCCTATAGTAAAGCACATTAATTATTTTGCAGTCAACTGTATGAATATTCATGCTGGGATAAATAAAGATTATAAATGGGTTTACATCAGTTCAGGTCAAACTTTTCAACCAAATGAGTTCAAGTCTGGTTGGGCTTTGCCACCAAATAAATTATGAATAAATTTTCAGTTCTCAGAGCCTTGTGGCTTTCAAAATTGTGCATAATGGATTCTGAAATTATATCATGTTACAAAAGACATACAAAGCTGTAGCTGGTACAATAAGCTCTCAGTAAATGTTAGTGGTTATCGTTACCATGGCTTCAGAAACTGTATAGTGCAAGTTTGTCCTTATTACTCTCTTCCATTTTTCAAAAAAATAATATTCTCAAGTATATTTTCTTCTCTGCCTTGTCCACTTACTTCTGAAATTGGCTTTTTGTACCCTGCAGCCCTAGAGAATGAAGTGTACTGCAATCCAAAGCAGTCTGTGATCGATCGTTCTGTCAATGGATTAATAAATGGCAATGTGGTGCCTTGCAATGGTGAGATAAGTGGGGATTTCTTGAACAATCCTTTTAAACAGGAAAACGTTCTAGCACGTATGGTTGCATCAAGGATCACAAATTATCCAACTGCATGGGTGGAGGGTAGTTCCCCTGATTCTGACCTTGAGTTTGTAGCCAATACTAAGGCAAGGGTCAAAGAGCTTCAGCAAGAGGCCGAACGCTTGGAAAAGGCTTTCAGAAGTTACCATCGGAGAGTCATTAAAAACTCTGCCAAAAGCCCACTAGCAGCAAAGAGCCCACCATCTCTGCACTTGCTGGAAGCCTTCAAAAACATTACTTCCAGTTCCCCGGAAAGACATATTTTTGGAGAGGACAGAGTTGTCTCTGAGCAGCCTCAAGTGGGCACACTTGAAGAAAGGAATGACGTCGTGGAAGCACTGACAGGCAGTGCAGCCTCGAGGCTCCGCGGGGGCACTTCCTCCAGACGCCTCTCTTCCACACCCCTTCCAAAAGCAAAAAGAAGCCTCGAAAGTGAAATGTATCTGGAAGGTAAGCCACCCGCACAAAGGGTTGCGGGGTGCTCTGGAGTTGGGTAGCCACCCTGCCCACGACACAGGGTTGCCGTGAGGGTCAGCGGGCCAGAGTGGCAAGGTCTAGTGTTTGGCACACAGAGCTGTTTAGAGAGTGATAGTTGCCTTGCCTTTGCTGCCTGTTGGTTTCCTGCATTTTATTATTGCCACTGCAATTTAATTTAGGTGCTTGAATCATTAGTTTTCTGGATCTTATGCATCATAATTGGCTATTTGTGAGGATAACAGTTTATTTTCAAACTAGTAGAGCTCTTTAGAAACCACGTTGGTATCTTCTCCGTGCAATTGGTAATATTCTTGCCTTGGTTCTTTCTGCACCTTAGGTCTGGGCAGATCACACATTGCTTCCCCCAGTCCTTGTCCTGACAGAATGCCCCTACCATCACCCACTGAGTCTAGGCACAGCCTCTCCATCCCTCCTGTCTCCAGCCCTCCGGAGCAGAAAGTGGGGTAAGTATAACGTTCTGATTGATTAGCTTCAGCTGAATAATGTTACTTGCTCTGTCAGCCTTCACTTGTTTTACTGGGATTTTTTTTTTTTGAGATAATTATTATAGATCATGTGGCAGTATAGAATTTGCAATCAGATTGCAAAATGATATGTCATCTTTGAGAATCATCTAAATTACCTGGAGGGAAAAAGATTGCTTTTAGCAAATAAGTGGATAATGCTTATTTGCTAAACTTGATATATGGACCATGCAATCTGGTATTAATAAGCATCTTCCTAGTTCTGTGAATAGATTTGGTTTATTAAGATAAAAAACAAATGTACAAAATCTGAAAGCAAACAAATGGAGGTTATTTATAAAGTTGGAACAATTTTACACATCATTAAAAAGTCATTTTTAAAATATTTTGGCATTGAAATATAAACAGATAAGGTTCTGACCTGCATATCATTGAAATAAATTCAAACGTGGTAGCAGGCTCTGGTGTATGATTGTTGAAACAGGAAGGAGTGGATGTTTTTAGAAACTAGTCCACTGGGTCAGCCAGGCTATGATTTGAGTCATGAGCAGACTCCTACCCATACCTGGGCCCCACAGCAGAGGGAACTGACTCCTTAGCTCCAGGCTCGATCTCGGGCATCTGCATGTTAATGTAGTTCTCTGCCACATGGGCCTGTCGTAGTCCTAAAGCTTTTTTTTTTTTTTTTTTTTTTTGTGATAAGCCAAAAGGAAGGATAAGACACACACATATGCTGAGTTAGGGCGCTTTGCTCACTCAAGGTTGTGGTGTTGCATCTTCATCTGGTTCATGCTGATAGTGTGCAGAATTTTTTTTCAGAAATGTTTTATGGTTATTTCCTAGGAATAGCATTCAGAGTACAACATTATTCTTTATTAACAACTGTAGTACCTACTTCACAGCATGAAATAGTTACAAGGAGTAACTGATTAAACAGGTATTAATTGCTGAGAACAATGCCTAGTGGTGGTGGTGAGGTGGAGCTATTTACAAGACAAAGAGAAAGGGAATTTTGTAGAGCCTTTTCTTGAGTCACAAAAGGCTTTTTGTCACCTTGTACTCTTTGGTTTTCCATTATTGAAACTTCACGAGTTTTATCCTTCCAATCTAGTCTTTATCGAAGACAAACTGAACTTCAAGACAAAAGTGAATTTTCAGATGTGGACAAGCTAGCTTTTAAGGATAATGAGGAGTTTGAATCATCTTTTGAATGTAAGTTCAAATATAAATACCAGTTTTTATATGTTGAAA
|
GTAAAGAGTTTAACTACTCAGGTTGCCGATTTAAAATTGCAACTGAAGCAAACTCAGACAGGTTAGAGACGTTTTAACCCATAAATATTTTTGTATGTATAAAGCTTCTGGTGTCTGTGAAAATGTAATGATCATAATTTATTGAATATTAATTATTGTTTTAGGGGAAAAGCCATAGAAATATGTGTCATCTTAGAAGTAAAACTCCCTATCCATTTTGGTAATACCATCTGGATCATCAGCAAAAGTATTTTGCTTCATAGGTGCCTCATGGCTTGGGAGAGTCTCATGCCCCAATAGGAAAGGCGTGGTGGTAACATAGAAGTCCCCATATTCATTATAGGATTTCCTTTTTTATTTGTTACCCCAATGTTAACACCAATTCAGTAGTTTTACGGATTCCTTGATAGATATATAAATATACAGGACAAGCAGGGTGGTTTAGCAAAAAGAATATTGCCTTCAGAATCAGAACTGTTCTTCTTTTGGACCCGTTTTGAAGTTGTTTGACCTTGGGCATGTTACTTTAACTTCCTTGGGCCTCAGTCTCCTCATTTGTAATGGGGATAATAATACCTACTGAGCCATGATGAAAAAGATGAAATGGGTTTCAGTCCAGTGCCTGGGACATAAAAGACACTCAGGAAATGGTTATTGGTATCATTTTATTATTGTGTCTTCACTGTGGATGCATCTCTGCCCCTTCCTACTTCGTAAGAAGGATATTAAAGTTCAGATACTTTATTCTTCAGTTGCTTTCAAGTTCAAAGAAAGTACGTATGTGTTACCAGTTCAACTGGGTCTGAGCCTTCCTTGTTCCCACCTGCATTGTTTCCTCATCAGCTCCTTGCTCTCTTCTACCAGCACTTGTTTTATTTTTATCTCTACTCGTTTCTGCTTTTTTCTGTTCCTCATTTTCTTTCAGTTCTGTTTGTGAAACTTCTCACAGCTGAAATCATAGCAGTCTCCTATCAATAAAAAATAGTTGAATGAGGATAGAACTCTTTCGCATGCATGTGTTGCCGAGGGCAAGCTTCTTTCTTGTAGCATCACGGGGAGGCATTGCAGGAGAGAGGGGCAGGTGCACTGGCTTTGCATTAGGAAAGCCCAGTAGCTCTTAGACTTGCTAACCGTGTGACCCAGCCTCAGTAAGCTTTAGTCCCCCCATCTGTAAAATGGGAGCAGTGAGAGTTTCTTGACCACAGTGTTGTTGTGAATGCAGGTCCTCACTTCCTTATATGAAACTCGGGCCATATGCTGTGGATTTCGCAATAGCCCTGGGAGTTCTGAACAGCATCCTATAGTAAAGCACATTAATTATTTTGCAGTCAACTGTATGAATATTCATGCTGGGATAAATAAAGATTATAAATGGGTTTACATCAGTTCAGGTCAAACTTTTCAACCAAATGAGTTCAAGTCTGGTTGGGCTTTGCCACCAAATAAATTATGAATAAATTTTCAGTTCTCAGAGCCTTGTGGCTTTCAAAATTGTGCATAATGGATTCTGAAATTATATCATGTTACAAAAGACATACAAAGCTGTAGCTGGTACAATAAGCTCTCAGTAAATGTTAGTGGTTATCGTTACCATGGCTTCAGAAACTGTATAGTGCAAGTTTGTCCTTATTACTCTCTTCCATTTTTCAAAAAAATAATATTCTCAAGTATATTTTCTTCTCTGCCTTGTCCACTTACTTCTGAAATTGGCTTTTTGTACCCTGCAGCCCTAGAGAATGAAGTGTACTGCAATCCAAAGCAGTCTGTGATCGATCGTTCTGTCAATGGATTAATAAATGGCAATGTGGTGCCTTGCAATGGTGAGATAAGTGGGGATTTCTTGAACAATCCTTTTAAACAGGAAAACGTTCTAGCACGTATGGTTGCATCAAGGATCACAAATTATCCAACTGCATGGGTGGAGGGTAGTTCCCCTGATTCTGACCTTGAGTTTGTAGCCAATACTAAGGCAAGGGTCAAAGAGCTTCAGCAAGAGGCCGAACGCTTGGAAAAGGCTTTCAGAAGTTACCATCGGAGAGTCATTAAAAACTGCCAAAAGCCCACTAGCAGCAAAGAGCCCACCATCTCTGCACTTGCTGGAAGCCTTCAAAAACATTACTTCCAGTTCCCCGGAAAGACATATTTTTGGAGAGGACAGAGTTGTCTCTGAGCAGCCTCAAGTGGGCACACTTGAAGAAAGGAATGACGTCGTGGAAGCACTGACAGGCAGTGCAGCCTCGAGGCTCCGCGGGGGCACTTCCTCCAGACGCCTCTCTTCCACACCCCTTCCAAAAGCAAAAAGAAGCCTCGAAAGTGAAATGTATCTGGAAGGTAAGCCACCCGCACAAAGGGTTGCGGGGTGCTCTGGAGTTGGGTAGCCACCCTGCCCACGACACAGGGTTGCCGTGAGGGTCAGCGGGCCAGAGTGGCAAGGTCTAGTGTTTGGCACACAGAGCTGTTTAGAGAGTGATAGTTGCCTTGCCTTTGCTGCCTGTTGGTTTCCTGCATTTTATTATTGCCACTGCAATTTAATTTAGGTGCTTGAATCATTAGTTTTCTGGATCTTATGCATCATAATTGGCTATTTGTGAGGATAACAGTTTATTTTCAAACTAGTAGAGCTCTTTAGAAACCACGTTGGTATCTTCTCCGTGCAATTGGTAATATTCTTGCCTTGGTTCTTTCTGCACCTTAGGTCTGGGCAGATCACACATTGCTTCCCCCAGTCCTTGTCCTGACAGAATGCCCCTACCATCACCCACTGAGTCTAGGCACAGCCTCTCCATCCCTCCTGTCTCCAGCCCTCCGGAGCAGAAAGTGGGGTAAGTATAACGTTCTGATTGATTAGCTTCAGCTGAATAATGTTACTTGCTCTGTCAGCCTTCACTTGTTTTACTGGGATTTTTTTTTTTTGAGATAATTATTATAGATCATGTGGCAGTATAGAATTTGCAATCAGATTGCAAAATGATATGTCATCTTTGAGAATCATCTAAATTACCTGGAGGGAAAAAGATTGCTTTTAGCAAATAAGTGGATAATGCTTATTTGCTAAACTTGATATATGGACCATGCAATCTGGTATTAATAAGCATCTTCCTAGTTCTGTGAATAGATTTGGTTTATTAAGATAAAAAACAAATGTACAAAATCTGAAAGCAAACAAATGGAGGTTATTTATAAAGTTGGAACAATTTTACACATCATTAAAAAGTCATTTTTAAAATATTTTGGCATTGAAATATAAACAGATAAGGTTCTGACCTGCATATCATTGAAATAAATTCAAACGTGGTAGCAGGCTCTGGTGTATGATTGTTGAAACAGGAAGGAGTGGATGTTTTTAGAAACTAGTCCACTGGGTCAGCCAGGCTATGATTTGAGTCATGAGCAGACTCCTACCCATACCTGGGCCCCACAGCAGAGGGAACTGACTCCTTAGCTCCAGGCTCGATCTCGGGCATCTGCATGTTAATGTAGTTCTCTGCCACATGGGCCTGTCGTAGTCCTAAAGCTTTTTTTTTTTTTTTTTTTTTTTGTGATAAGCCAAAAGGAAGGATAAGACACACACATATGCTGAGTTAGGGCGCTTTGCTCACTCAAGGTTGTGGTGTTGCATCTTCATCTGGTTCATGCTGATAGTGTGCAGAATTTTTTTTCAGAAATGTTTTATGGTTATTTCCTAGGAATAGCATTCAGAGTACAACATTATTCTTTATTAACAACTGTAGTACCTACTTCACAGCATGAAATAGTTACAAGGAGTAACTGATTAAACAGGTATTAATTGCTGAGAACAATGCCTAGTGGTGGTGGTGAGGTGGAGCTATTTACAAGACAAAGAGAAAGGGAATTTTGTAGAGCCTTTTCTTGAGTCACAAAAGGCTTTTTGTCACCTTGTACTCTTTGGTTTTCCATTATTGAAACTTCACGAGTTTTATCCTTCCAATCTAGTCTTTATCGAAGACAAACTGAACTTCAAGACAAAAGTGAATTTTCAGATGTGGACAAGCTAGCTTTTAAGGATAATGAGGAGTTTGAATCATCTTTTGAATGTAAGTTCAAATATAAATACCAGTTTTTATATGTTGAAANN
|
pathogenic
| 329,927 |
Regarding the variant found on chromosome X at position 13762452 in gene OFD1 (OFD1 centriole and centriolar satellite protein): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
TTTCAGAAGTTACCATCGGAGAGTCATTAAAAACTCTGCCAAAAGCCCACTAGCAGCAAAGAGCCCACCATCTCTGCACTTGCTGGAAGCCTTCAAAAACATTACTTCCAGTTCCCCGGAAAGACATATTTTTGGAGAGGACAGAGTTGTCTCTGAGCAGCCTCAAGTGGGCACACTTGAAGAAAGGAATGACGTCGTGGAAGCACTGACAGGCAGTGCAGCCTCGAGGCTCCGCGGGGGCACTTCCTCCAGACGCCTCTCTTCCACACCCCTTCCAAAAGCAAAAAGAAGCCTCGAAAGTGAAATGTATCTGGAAGGTAAGCCACCCGCACAAAGGGTTGCGGGGTGCTCTGGAGTTGGGTAGCCACCCTGCCCACGACACAGGGTTGCCGTGAGGGTCAGCGGGCCAGAGTGGCAAGGTCTAGTGTTTGGCACACAGAGCTGTTTAGAGAGTGATAGTTGCCTTGCCTTTGCTGCCTGTTGGTTTCCTGCATTTTATTATTGCCACTGCAATTTAATTTAGGTGCTTGAATCATTAGTTTTCTGGATCTTATGCATCATAATTGGCTATTTGTGAGGATAACAGTTTATTTTCAAACTAGTAGAGCTCTTTAGAAACCACGTTGGTATCTTCTCCGTGCAATTGGTAATATTCTTGCCTTGGTTCTTTCTGCACCTTAGGTCTGGGCAGATCACACATTGCTTCCCCCAGTCCTTGTCCTGACAGAATGCCCCTACCATCACCCACTGAGTCTAGGCACAGCCTCTCCATCCCTCCTGTCTCCAGCCCTCCGGAGCAGAAAGTGGGGTAAGTATAACGTTCTGATTGATTAGCTTCAGCTGAATAATGTTACTTGCTCTGTCAGCCTTCACTTGTTTTACTGGGATTTTTTTTTTTTGAGATAATTATTATAGATCATGTGGCAGTATAGAATTTGCAATCAGATTGCAAAATGATATGTCATCTTTGAGAATCATCTAAATTACCTGGAGGGAAAAAGATTGCTTTTAGCAAATAAGTGGATAATGCTTATTTGCTAAACTTGATATATGGACCATGCAATCTGGTATTAATAAGCATCTTCCTAGTTCTGTGAATAGATTTGGTTTATTAAGATAAAAAACAAATGTACAAAATCTGAAAGCAAACAAATGGAGGTTATTTATAAAGTTGGAACAATTTTACACATCATTAAAAAGTCATTTTTAAAATATTTTGGCATTGAAATATAAACAGATAAGGTTCTGACCTGCATATCATTGAAATAAATTCAAACGTGGTAGCAGGCTCTGGTGTATGATTGTTGAAACAGGAAGGAGTGGATGTTTTTAGAAACTAGTCCACTGGGTCAGCCAGGCTATGATTTGAGTCATGAGCAGACTCCTACCCATACCTGGGCCCCACAGCAGAGGGAACTGACTCCTTAGCTCCAGGCTCGATCTCGGGCATCTGCATGTTAATGTAGTTCTCTGCCACATGGGCCTGTCGTAGTCCTAAAGCTTTTTTTTTTTTTTTTTTTTTTTGTGATAAGCCAAAAGGAAGGATAAGACACACACATATGCTGAGTTAGGGCGCTTTGCTCACTCAAGGTTGTGGTGTTGCATCTTCATCTGGTTCATGCTGATAGTGTGCAGAATTTTTTTTCAGAAATGTTTTATGGTTATTTCCTAGGAATAGCATTCAGAGTACAACATTATTCTTTATTAACAACTGTAGTACCTACTTCACAGCATGAAATAGTTACAAGGAGTAACTGATTAAACAGGTATTAATTGCTGAGAACAATGCCTAGTGGTGGTGGTGAGGTGGAGCTATTTACAAGACAAAGAGAAAGGGAATTTTGTAGAGCCTTTTCTTGAGTCACAAAAGGCTTTTTGTCACCTTGTACTCTTTGGTTTTCCATTATTGAAACTTCACGAGTTTTATCCTTCCAATCTAGTCTTTATCGAAGACAAACTGAACTTCAAGACAAAAGTGAATTTTCAGATGTGGACAAGCTAGCTTTTAAGGATAATGAGGAGTTTGAATCATCTTTTGAATGTAAGTTCAAATATAAATACCAGTTTTTATATGTTGAAAATCTAGAAAGCTTAGTTTTGGTGAAACGTATCCATTGGTTTAAAAAGAAAAGCAGTTACAAATTGGGTCATTATTATTTTGTGATACAACCACAAGTACAGATGTATCACCTCATTTTTCTACCATGATGATTTTCATGTGTGTGTTTACTTTTTAAAAATTTCAGTATGACTAATAATTTCAGAGTTTGAGCTAAGCTTATAAATGAATTATTAACTTATCAGATTTTAAATAAGTGATTTTTATTTATTTTTTCCTTTGATGGAATACAAGAATGTTTATTTTTATTTTTTTGAGATGGAGTCTCTCTCTGTTGCCCAGGCTGGAGTACAGTGGTCCGATCTTGGCTCACTGCAATCTCCCTCCTCCTCCCAGGTCCAAGTGATTCATCTGCCTCAGCCTCCCGAGTAGCTGGGACCAACCACAGGTGCATGCCATCACACCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAGCTCCTGACCTCAAGTGATCCGCCTGCATCGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCCACTGCGCCCGGCCTAAGGATGTTATTTTTTAAATATACTGATTCAGTTGATTGCCTCAGATTTAGAAAACCTCATTTTTAGTAAAAGAATAGAGATAAAAGAATATTAAGAGTCCAGAAACTGGTGTCCTGGCTATGGCCCTGCCTTAGACTGTCTTACTTTGTAGCCACTTTGTAAGTGTAAAATAAGCATGTAGAGCCTATCATCTCTAAGGTTCTTTCCAGCTTGAGAAATCTTTATATTTGCATATAAGCTATTGGTTAGCCTTGTAAACTTCATCTTCAAATCTGAAAGTGTTAATATTTTGAACAGTTAAATGAGAGGGCTTGGTAAATTTTGTAAATATTTGTTAAAGTCTTTGTGTTAAATCATTGATATTTTAATAGAATTCAAATGATGATCAGCAAGCCAATTGAATTCTTCACTGTCACTGGGTTGATTTTCCTGTTGGGTAACGAATCTCATTTTGTAAACAAAGTTAATTCTTTCAACTACGAGAACACTCTGACAAGCAAATACGTTGCCAAGTGGTTATGTTGGGAACTTCATAGAATCCTGTTAGGAAAGGGCGCACCCAGTTACTTTGGCTTCAGTTCCCGTGCTCCAGTCAGTTGCCCCCACACTGCACTGCCCTTCTTTGTCTTGGTGTTATTATTAAGGACTCATGGGACAATTGTGCCTCATGCAGCTGCAGGGAACATGCCAAGGCAGTTGGAAATGGGCGGGCTTTCTCCTGCCGGGGATATGTCTCATGTGGACGCTGCTGCAGCTGCTGTGCCCCTCTCATATCAGCACCCAAGTAAGTTCTTTTTTTGAACTAACAGTCAGCAGGGTCGCATACTAAATACCAGTCCGTGTGCTCTGTGAATTATTTCATGTATCACTGAAGTCATCTTGTAGGTGTAAATTAGTCAAAATCTTGGGTTGGGGGTTATAGGTGTCATTATATTGTTAATGACATTTCTGAAGTAATTCCCATGTGAACATGTAAAGACAGTGCTGAGAAAGGACACGTTGGAAGGAAAGGCTTCTCATTTAGGCTTCCCAGGCCAGTTGCTTAAAAAGTGTTTTCATTTACTCTTCAGTGCCTGGCATAGTAGTTGGACTTTTCCCCAAGACTCTTCTGCAAAAACTGTTCCTTGGGAACCTTAAAGTTTGGGAAATCACAGTGAAAAATTGAAATAATAATTAACTCCCAGCATATATCTTTAATATGATTGTAACATTTAAATATTATTTATTTTTCTATCTACTTGTTTCCTTTGTGTCTTAAGAAATTAGGACAGAAAAACTTCGTATTTCAATCTTTGGAAAAGCTGTGACACCGAGTTAGCGTAGCACTGGAGGAAAACTGGCCATCAGACTTCTCTTCTCTGGCCCACTTCCTCTTTTTCCTCTTCTCCTCCAGATTACCCACTTCCCTCCCTGCGGGTGGAGGGAGAC
|
TTTCAGAAGTTACCATCGGAGAGTCATTAAAAACTCTGCCAAAAGCCCACTAGCAGCAAAGAGCCCACCATCTCTGCACTTGCTGGAAGCCTTCAAAAACATTACTTCCAGTTCCCCGGAAAGACATATTTTTGGAGAGGACAGAGTTGTCTCTGAGCAGCCTCAAGTGGGCACACTTGAAGAAAGGAATGACGTCGTGGAAGCACTGACAGGCAGTGCAGCCTCGAGGCTCCGCGGGGGCACTTCCTCCAGACGCCTCTCTTCCACACCCCTTCCAAAAGCAAAAAGAAGCCTCGAAAGTGAAATGTATCTGGAAGGTAAGCCACCCGCACAAAGGGTTGCGGGGTGCTCTGGAGTTGGGTAGCCACCCTGCCCACGACACAGGGTTGCCGTGAGGGTCAGCGGGCCAGAGTGGCAAGGTCTAGTGTTTGGCACACAGAGCTGTTTAGAGAGTGATAGTTGCCTTGCCTTTGCTGCCTGTTGGTTTCCTGCATTTTATTATTGCCACTGCAATTTAATTTAGGTGCTTGAATCATTAGTTTTCTGGATCTTATGCATCATAATTGGCTATTTGTGAGGATAACAGTTTATTTTCAAACTAGTAGAGCTCTTTAGAAACCACGTTGGTATCTTCTCCGTGCAATTGGTAATATTCTTGCCTTGGTTCTTTCTGCACCTTAGGTCTGGGCAGATCACACATTGCTTCCCCCAGTCCTTGTCCTGACAGAATGCCCCTACCATCACCCACTGAGTCTAGGCACAGCCTCTCCATCCCTCCTGTCTCCAGCCCTCCGGAGCAGAAAGTGGGGTAAGTATAACGTTCTGATTGATTAGCTTCAGCTGAATAATGTTACTTGCTCTGTCAGCCTTCACTTGTTTTACTGGGATTTTTTTTTTTTGAGATAATTATTATAGATCATGTGGCAGTATAGAATTTGCAATCAGATTGCAAAATGATATGTCATCTTTGAGAATCATCTAAATTACCTGGAGGGAAAAAGATTGCTTTTAGCAAATAAGTGGATAATGCTTATTTGCTAAACTTGATATATGGACCATGCAATCTGGTATTAATAAGCATCTTCCTAGTTCTGTGAATAGATTTGGTTTATTAAGATAAAAAACAAATGTACAAAATCTGAAAGCAAACAAATGGAGGTTATTTATAAAGTTGGAACAATTTTACACATCATTAAAAAGTCATTTTTAAAATATTTTGGCATTGAAATATAAACAGATAAGGTTCTGACCTGCATATCATTGAAATAAATTCAAACGTGGTAGCAGGCTCTGGTGTATGATTGTTGAAACAGGAAGGAGTGGATGTTTTTAGAAACTAGTCCACTGGGTCAGCCAGGCTATGATTTGAGTCATGAGCAGACTCCTACCCATACCTGGGCCCCACAGCAGAGGGAACTGACTCCTTAGCTCCAGGCTCGATCTCGGGCATCTGCATGTTAATGTAGTTCTCTGCCACATGGGCCTGTCGTAGTCCTAAAGCTTTTTTTTTTTTTTTTTTTTTTTGTGATAAGCCAAAAGGAAGGATAAGACACACACATATGCTGAGTTAGGGCGCTTTGCTCACTCAAGGTTGTGGTGTTGCATCTTCATCTGGTTCATGCTGATAGTGTGCAGAATTTTTTTTCAGAAATGTTTTATGGTTATTTCCTAGGAATAGCATTCAGAGTACAACATTATTCTTTATTAACAACTGTAGTACCTACTTCACAGCATGAAATAGTTACAAGGAGTAACTGATTAAACAGGTATTAATTGCTGAGAACAATGCCTAGTGGTGGTGGTGAGGTGGAGCTATTTACAAGACAAAGAGAAAGGGAATTTTGTAGAGCCTTTTCTTGAGTCACAAAAGGCTTTTTGTCACCTTGTACTCTTTGGTTTTCCATTATTGAAACTTCACGAGTTTTATCCTTCCAATCTAGTCTTTATCGAAGACAAACTGAACTTCAAGACAAAAGTGAATTTTCAGATGTGGACAAGCTAGCTTTTAAGGATAATGAGGAGTTTGAATCATCTTTTGAATGTAAGTTCAAATACCAGTTTTTATATGTTGAAAATCTAGAAAGCTTAGTTTTGGTGAAACGTATCCATTGGTTTAAAAAGAAAAGCAGTTACAAATTGGGTCATTATTATTTTGTGATACAACCACAAGTACAGATGTATCACCTCATTTTTCTACCATGATGATTTTCATGTGTGTGTTTACTTTTTAAAAATTTCAGTATGACTAATAATTTCAGAGTTTGAGCTAAGCTTATAAATGAATTATTAACTTATCAGATTTTAAATAAGTGATTTTTATTTATTTTTTCCTTTGATGGAATACAAGAATGTTTATTTTTATTTTTTTGAGATGGAGTCTCTCTCTGTTGCCCAGGCTGGAGTACAGTGGTCCGATCTTGGCTCACTGCAATCTCCCTCCTCCTCCCAGGTCCAAGTGATTCATCTGCCTCAGCCTCCCGAGTAGCTGGGACCAACCACAGGTGCATGCCATCACACCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAGCTCCTGACCTCAAGTGATCCGCCTGCATCGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCCACTGCGCCCGGCCTAAGGATGTTATTTTTTAAATATACTGATTCAGTTGATTGCCTCAGATTTAGAAAACCTCATTTTTAGTAAAAGAATAGAGATAAAAGAATATTAAGAGTCCAGAAACTGGTGTCCTGGCTATGGCCCTGCCTTAGACTGTCTTACTTTGTAGCCACTTTGTAAGTGTAAAATAAGCATGTAGAGCCTATCATCTCTAAGGTTCTTTCCAGCTTGAGAAATCTTTATATTTGCATATAAGCTATTGGTTAGCCTTGTAAACTTCATCTTCAAATCTGAAAGTGTTAATATTTTGAACAGTTAAATGAGAGGGCTTGGTAAATTTTGTAAATATTTGTTAAAGTCTTTGTGTTAAATCATTGATATTTTAATAGAATTCAAATGATGATCAGCAAGCCAATTGAATTCTTCACTGTCACTGGGTTGATTTTCCTGTTGGGTAACGAATCTCATTTTGTAAACAAAGTTAATTCTTTCAACTACGAGAACACTCTGACAAGCAAATACGTTGCCAAGTGGTTATGTTGGGAACTTCATAGAATCCTGTTAGGAAAGGGCGCACCCAGTTACTTTGGCTTCAGTTCCCGTGCTCCAGTCAGTTGCCCCCACACTGCACTGCCCTTCTTTGTCTTGGTGTTATTATTAAGGACTCATGGGACAATTGTGCCTCATGCAGCTGCAGGGAACATGCCAAGGCAGTTGGAAATGGGCGGGCTTTCTCCTGCCGGGGATATGTCTCATGTGGACGCTGCTGCAGCTGCTGTGCCCCTCTCATATCAGCACCCAAGTAAGTTCTTTTTTTGAACTAACAGTCAGCAGGGTCGCATACTAAATACCAGTCCGTGTGCTCTGTGAATTATTTCATGTATCACTGAAGTCATCTTGTAGGTGTAAATTAGTCAAAATCTTGGGTTGGGGGTTATAGGTGTCATTATATTGTTAATGACATTTCTGAAGTAATTCCCATGTGAACATGTAAAGACAGTGCTGAGAAAGGACACGTTGGAAGGAAAGGCTTCTCATTTAGGCTTCCCAGGCCAGTTGCTTAAAAAGTGTTTTCATTTACTCTTCAGTGCCTGGCATAGTAGTTGGACTTTTCCCCAAGACTCTTCTGCAAAAACTGTTCCTTGGGAACCTTAAAGTTTGGGAAATCACAGTGAAAAATTGAAATAATAATTAACTCCCAGCATATATCTTTAATATGATTGTAACATTTAAATATTATTTATTTTTCTATCTACTTGTTTCCTTTGTGTCTTAAGAAATTAGGACAGAAAAACTTCGTATTTCAATCTTTGGAAAAGCTGTGACACCGAGTTAGCGTAGCACTGGAGGAAAACTGGCCATCAGACTTCTCTTCTCTGGCCCACTTCCTCTTTTTCCTCTTCTCCTCCAGATTACCCACTTCCCTCCCTGCGGGTGGAGGGAGACNNNNNN
|
benign
| 329,947 |
Evaluate if the mutation on chromosome X at position 13768079 in OFD1 (OFD1 centriole and centriolar satellite protein) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Orofaciodigital_syndrome_I', 'Primary_ciliary_dyskinesia']
|
GCAAGGAAGATAGAGCCACGGCCAGGCCCCAGTGAGTGGGTTGGTACAGATGAAATATTTCTCGTACAAAGTTGGTGGTGATGTAGGAAATCAATCTGGGAAGAAAAGGGCAGGTTGTCAGAGCCCAGACTACCATGGCGTAGGACTCTTATCAGAGCGGAGATGCTGCACAGCAGATCCACATCTTCCCCTCAGGAAATGCCTGGTGCAGATGACCACAGGTTGTTGGAAGGCAGAGACTGGCTTCAGGAAGAGCCTTGACTGGGCTGTTTCAGTAGTCCAGGGAGATGGTGAGAAGGGCCCCTGTTGCAGCCACAGGACAGGGAGTGTGAACCTGCAAACACTGGTGGCTGAGTGGATAGAGGGTAGAAAGAGCATGATCGAAGGACCGGGATGATCATGCCTGGGACGAAGCTAGTGCTGTGGGGTTTCCACATGCGGATGGCAAGGAACTATCAGAAATGTGGACGCGAGGCTAGGGAGAGAGACCAGGAGTAGAGGAAAAGATAGGGAAAGGATCCATATACAAGTGATGGCTAAAACCCCAGGAAGGGCTGCCGTCAGTTTGGAGGAAGTGGGGAATGAACAGTGAGATGGCTGGAATGGCGGGGGGAGGGCAGTGGTGTGATTTCTGTTCTGTTTTGTTGGGGTAGGACAGACTTGAGCATCTTTATGGGAGTAAGACTTCTAAAACTACTGTGTACAGAAATAGGGATTAATGGCTCAGTCTGGGTCCTAAAGATAGGGGAGGGATTATAATCAAAGGCAGAGGCAGAAATGCAGGGTTTGCCTTGGAAAGGAGGGAGGAGATCTGTGAAGAGGATGAGAACATGTGACATGGAAGGAGGACAGTTGGAGTTGGTTATGGTGAGGGTGACGTATTTGTCTCAGTCAAGTGAAGTAGGGTACAGTTCAAGGAGTGGGGTCGGGAGCTTGAAGTCGGTGAAAATGAAATAGTGACTTGAAGCAGGTCACAGAGTCAACTAAAAGCCAAGCAGAGTCTCCGTGGGTCTTGGCAAGGGCTCCTGCAGACTGGTCCTGCATTCATTTGAATAATCTGATACTGGAAGCTACTCTTTATTTTCTGTCCTATTAGGTGTAGATCAGAAACAAATTGAAGAACAAAAGGAAGAAGAAAAAATACGGGAACAGCAAGTGAAAGAACGAAGGCAGAGAGAAGAAAGAAGGCAGAGTAACCTACAAGAAGTTTTAGAAAGGGAACGAAGAGAACTAGAAAAACTGTATCAGGAAAGGGTAATAAGTATGACTTGATTCTCTGAACTGGTTGCTCCATTGTACACCTTTCGTAAGTACATTGAGCTCAGGGAGGGGAGTCAATTGGTGTACAAAGTCAGAGGTGCGGCAGATGCCTTAAAAGGCATCCCTGTCCTCTCCTTGTCTTAAAAGCAGTGGGAAAGGCTGCACAGAATGTGAAGCTTAGGAGTTTTGTAGTAAAGGATAGTTTTTGAAGGTAATTTTTGTACATTCTCATCTGATCCTTAAAACAAGCCTGTAAAAAAGGTAGACTGTGCTTTGCTGCAGAACTTTGCTTTGAAAACAGGGTTTAAAGAAGAGACTGTCAGTGCCAGCTAGCTGGGACTAGAACCCAAGGGAGGAGTGGCTGCCAGTTCACAGTTGCTTCCAGGGGCACACACTCCCTCCCTCCTTCCTCTATTTCTCTTCTTGCCTTCTGTGTCCCAATTCTAGTCCTAGCAGATGGATTACTCTGTCCACTTAACACACCTGCTAAGTCTTGCTTGAATTACTCTAACATATGAATGTTCCTTGGACTCTTGGTTAATTCAAGTCCAAAGCACAGGACACTTGCCAATTAATACCTTCCTTCATTGAGATGACATATTTGTCTTCCTTTGATGATAGCAATGACTTCAATTTTAAAAATTAGTCCTCTGGCATACAGGCTGTACTTGAAGGATCGGGATTAATATTAGTGCATTTTTAAAACACTTAAAAGTTTTACAAATGTATTTGTGTATTTTCTGTTTTGGTGCCTGTTTTATAGAAGATGATTGAAGAATCACTGAAGATTAAAATAAAAAAGGAATTAGAAATGGAAAATGAATTAGAAATGAGTAATCAAGAAATAAAAGACAAATCTGCTCACAGTGAAAATCCTTTAGAGAAATACATGAAAATCATCCAGCAGGAGCAAGACCAGGAGTCGGCAGATAAGGTGCCAGTGCCATGGGCAGGGCAATCTGTGGGTGGGGGACATCCAGGGCTTCCGTGGCTTAACTTCTTGGGACGGGAATCCGTCTTCTCCATTGAAGACAAAAAGGTGAAAAGTATAGAAAATCCAAAGTTCAAATGGAACCTTGAGTCTTTTAAATATACTATTCTTTTGACAAAAATTCATAGCTTTTTTGCTTAAGGTAAAAGATTTAAGAGATTTTAATTTGTAAAAGTTGGGGTGGCTCATTAAGAAAGAAAAGATCTATCAAATGCATTAATACTGACATTAATATTTTATGTAAGTCTGAAGTATTATGGGTGTTAAATGCATACCCTATAGTTTATTTTGATGTGCTTGCTAAATTTCATGTTTAAAAGTCACCTCTTTTTTAGACTTTTAAATTACATATATATTTCAAAAATGGTTCTTAAAGTATTTCATGAAATTAATGCATATCTAATTTCAAAATTTTCCACCCTCTCCATGTAATCAGAGCTCAAAAAAGATGGTCCAAGAAGGCTCCCTAGTGGACACGCTGCAATCTAGTGACAAAGTCGAAAGGTACCTGTTTTCCCTACACACTTTCATACACAAACTGTTAATTGCTTATTTTGTCAGCCAAGAGAAACAGATGTTTGAGATTGCCTGTAAGAAGTTATTGAATCAGTCAAAATTAGTGACTATAAAAACAATTGAGTTTTTTGACTTGTGAAATTGATCCTGATATAAATTGTAAACTAGGGCAGAAACCCCCCAGGGAAGGAATTGAGAACATTATGAAGATAGCAAATAAACTTGACACAAATTTTTACATTTTAATTTTTATCTTTCCCTAATTTAGTTTAACAGGCTTTTCTCATGAAGAACTAGACGACTCTTGGTAACCATGTTTGCTGCCCAGCTTCTAACTTACATACCGTGAGAAGTTACGTAACATTTACTCCTTTGTAAATGTTTCCCTATCATCAGACAAAACTCAATAAAAATGTGTGTAATCCAATGTGGGTTTTTTTTTCCATAATTAATTTTGATACCATAGTGTGTGAACCAAGAATAATCTAGTCACGTGAAACCTCTTCTCCAGTCATAGTATTTCTCATTCATTATAATAAAAGTAACTGGCTTTTAACCTCCTTATTTTTGTCTTAAATTTATAAATGAGTATAACCTATCTTACTGCTCAACTGCAGGCCTACATTTTGGAAGTATAAGCTGTGTTCTTTCCTCTCCAAAGTTGGGCTGCCACCTGTAAAACAGGAGGTCATTTTTCCTAGCACACTCCTGTTTTGTCCCTGAACATAAAAACAGATTTTTCTAGGCATTAGAAATAGTAAGAAAGATACTGCCTCTGGTCTTTACTTCTGATGTCTGTGGTTTGTATGTATGTGTCCCTCCAAAATTCATATGTTGGAATTTAAACCCCCCCGTGTGATAGAATTAAGAGGTGGCACCTTTTGCAGGTGACTAAGAGTGGGATTAGTGACCTTATAAAAGGGCTCAATGGAACTAGCTAGGCCCTTTTGCCCTTGCACCATTTGAAGACACTGCATTGATCCCCTCTGGAGAACACAGCAACAAGGCACCATCTTGGAAGCCGAGACCGGGCCTTCACCAGACATCGAACCTGCCAGTGCCTTCCTTGATCTTCGACTTCCCAGCCTCTAAAACTGTAAGAAATACATTTCTGGTCTTTGTAAGTTACCCAGTCTAAGGTATTTTGCTATAGCAGCAGGAACAGACTGAGATAGCATCTTTATTATGGAACCTTTGGTCCTCATACTTAATGAATGGGCGTATTTCCTTTGTTTTTAAATGAATGGGCTCCTTCCCTATAATTGACTTCATCTCTTAAAAAATCAAGTTTTACAAGGCAGAACTGGAAAAAAATCTCTACTGAACCCT
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GCAAGGAAGATAGAGCCACGGCCAGGCCCCAGTGAGTGGGTTGGTACAGATGAAATATTTCTCGTACAAAGTTGGTGGTGATGTAGGAAATCAATCTGGGAAGAAAAGGGCAGGTTGTCAGAGCCCAGACTACCATGGCGTAGGACTCTTATCAGAGCGGAGATGCTGCACAGCAGATCCACATCTTCCCCTCAGGAAATGCCTGGTGCAGATGACCACAGGTTGTTGGAAGGCAGAGACTGGCTTCAGGAAGAGCCTTGACTGGGCTGTTTCAGTAGTCCAGGGAGATGGTGAGAAGGGCCCCTGTTGCAGCCACAGGACAGGGAGTGTGAACCTGCAAACACTGGTGGCTGAGTGGATAGAGGGTAGAAAGAGCATGATCGAAGGACCGGGATGATCATGCCTGGGACGAAGCTAGTGCTGTGGGGTTTCCACATGCGGATGGCAAGGAACTATCAGAAATGTGGACGCGAGGCTAGGGAGAGAGACCAGGAGTAGAGGAAAAGATAGGGAAAGGATCCATATACAAGTGATGGCTAAAACCCCAGGAAGGGCTGCCGTCAGTTTGGAGGAAGTGGGGAATGAACAGTGAGATGGCTGGAATGGCGGGGGGAGGGCAGTGGTGTGATTTCTGTTCTGTTTTGTTGGGGTAGGACAGACTTGAGCATCTTTATGGGAGTAAGACTTCTAAAACTACTGTGTACAGAAATAGGGATTAATGGCTCAGTCTGGGTCCTAAAGATAGGGGAGGGATTATAATCAAAGGCAGAGGCAGAAATGCAGGGTTTGCCTTGGAAAGGAGGGAGGAGATCTGTGAAGAGGATGAGAACATGTGACATGGAAGGAGGACAGTTGGAGTTGGTTATGGTGAGGGTGACGTATTTGTCTCAGTCAAGTGAAGTAGGGTACAGTTCAAGGAGTGGGGTCGGGAGCTTGAAGTCGGTGAAAATGAAATAGTGACTTGAAGCAGGTCACAGAGTCAACTAAAAGCCAAGCAGAGTCTCCGTGGGTCTTGGCAAGGGCTCCTGCAGACTGGTCCTGCATTCATTTGAATAATCTGATACTGGAAGCTACTCTTTATTTTCTGTCCTATTAGGTGTAGATCAGAAACAAATTGAAGAACAAAAGGAAGAAGAAAAAATACGGGAACAGCAAGTGAAAGAACGAAGGCAGAGAGAAGAAAGAAGGCAGAGTAACCTACAAGAAGTTTTAGAAAGGGAACGAAGAGAACTAGAAAAACTGTATCAGGAAAGGGTAATAAGTATGACTTGATTCTCTGAACTGGTTGCTCCATTGTACACCTTTCGTAAGTACATTGAGCTCAGGGAGGGGAGTCAATTGGTGTACAAAGTCAGAGGTGCGGCAGATGCCTTAAAAGGCATCCCTGTCCTCTCCTTGTCTTAAAAGCAGTGGGAAAGGCTGCACAGAATGTGAAGCTTAGGAGTTTTGTAGTAAAGGATAGTTTTTGAAGGTAATTTTTGTACATTCTCATCTGATCCTTAAAACAAGCCTGTAAAAAAGGTAGACTGTGCTTTGCTGCAGAACTTTGCTTTGAAAACAGGGTTTAAAGAAGAGACTGTCAGTGCCAGCTAGCTGGGACTAGAACCCAAGGGAGGAGTGGCTGCCAGTTCACAGTTGCTTCCAGGGGCACACACTCCCTCCCTCCTTCCTCTATTTCTCTTCTTGCCTTCTGTGTCCCAATTCTAGTCCTAGCAGATGGATTACTCTGTCCACTTAACACACCTGCTAAGTCTTGCTTGAATTACTCTAACATATGAATGTTCCTTGGACTCTTGGTTAATTCAAGTCCAAAGCACAGGACACTTGCCAATTAATACCTTCCTTCATTGAGATGACATATTTGTCTTCCTTTGATGATAGCAATGACTTCAATTTTAAAAATTAGTCCTCTGGCATACAGGCTGTACTTGAAGGATCGGGATTAATATTAGTGCATTTTTAAAACACTTAAAAGTTTTACAAATGTATTTGTGTATTTTCTGTTTTGGTGCCTGTTTTATAGAAGATGATTGAAGAATCACTGAAGATTAAAAAAGGAATTAGAAATGGAAAATGAATTAGAAATGAGTAATCAAGAAATAAAAGACAAATCTGCTCACAGTGAAAATCCTTTAGAGAAATACATGAAAATCATCCAGCAGGAGCAAGACCAGGAGTCGGCAGATAAGGTGCCAGTGCCATGGGCAGGGCAATCTGTGGGTGGGGGACATCCAGGGCTTCCGTGGCTTAACTTCTTGGGACGGGAATCCGTCTTCTCCATTGAAGACAAAAAGGTGAAAAGTATAGAAAATCCAAAGTTCAAATGGAACCTTGAGTCTTTTAAATATACTATTCTTTTGACAAAAATTCATAGCTTTTTTGCTTAAGGTAAAAGATTTAAGAGATTTTAATTTGTAAAAGTTGGGGTGGCTCATTAAGAAAGAAAAGATCTATCAAATGCATTAATACTGACATTAATATTTTATGTAAGTCTGAAGTATTATGGGTGTTAAATGCATACCCTATAGTTTATTTTGATGTGCTTGCTAAATTTCATGTTTAAAAGTCACCTCTTTTTTAGACTTTTAAATTACATATATATTTCAAAAATGGTTCTTAAAGTATTTCATGAAATTAATGCATATCTAATTTCAAAATTTTCCACCCTCTCCATGTAATCAGAGCTCAAAAAAGATGGTCCAAGAAGGCTCCCTAGTGGACACGCTGCAATCTAGTGACAAAGTCGAAAGGTACCTGTTTTCCCTACACACTTTCATACACAAACTGTTAATTGCTTATTTTGTCAGCCAAGAGAAACAGATGTTTGAGATTGCCTGTAAGAAGTTATTGAATCAGTCAAAATTAGTGACTATAAAAACAATTGAGTTTTTTGACTTGTGAAATTGATCCTGATATAAATTGTAAACTAGGGCAGAAACCCCCCAGGGAAGGAATTGAGAACATTATGAAGATAGCAAATAAACTTGACACAAATTTTTACATTTTAATTTTTATCTTTCCCTAATTTAGTTTAACAGGCTTTTCTCATGAAGAACTAGACGACTCTTGGTAACCATGTTTGCTGCCCAGCTTCTAACTTACATACCGTGAGAAGTTACGTAACATTTACTCCTTTGTAAATGTTTCCCTATCATCAGACAAAACTCAATAAAAATGTGTGTAATCCAATGTGGGTTTTTTTTTCCATAATTAATTTTGATACCATAGTGTGTGAACCAAGAATAATCTAGTCACGTGAAACCTCTTCTCCAGTCATAGTATTTCTCATTCATTATAATAAAAGTAACTGGCTTTTAACCTCCTTATTTTTGTCTTAAATTTATAAATGAGTATAACCTATCTTACTGCTCAACTGCAGGCCTACATTTTGGAAGTATAAGCTGTGTTCTTTCCTCTCCAAAGTTGGGCTGCCACCTGTAAAACAGGAGGTCATTTTTCCTAGCACACTCCTGTTTTGTCCCTGAACATAAAAACAGATTTTTCTAGGCATTAGAAATAGTAAGAAAGATACTGCCTCTGGTCTTTACTTCTGATGTCTGTGGTTTGTATGTATGTGTCCCTCCAAAATTCATATGTTGGAATTTAAACCCCCCCGTGTGATAGAATTAAGAGGTGGCACCTTTTGCAGGTGACTAAGAGTGGGATTAGTGACCTTATAAAAGGGCTCAATGGAACTAGCTAGGCCCTTTTGCCCTTGCACCATTTGAAGACACTGCATTGATCCCCTCTGGAGAACACAGCAACAAGGCACCATCTTGGAAGCCGAGACCGGGCCTTCACCAGACATCGAACCTGCCAGTGCCTTCCTTGATCTTCGACTTCCCAGCCTCTAAAACTGTAAGAAATACATTTCTGGTCTTTGTAAGTTACCCAGTCTAAGGTATTTTGCTATAGCAGCAGGAACAGACTGAGATAGCATCTTTATTATGGAACCTTTGGTCCTCATACTTAATGAATGGGCGTATTTCCTTTGTTTTTAAATGAATGGGCTCCTTCCCTATAATTGACTTCATCTCTTAAAAAATCAAGTTTTACAAGGCAGAACTGGAAAAAAATCTCTACTGAACCCTNNNNN
|
pathogenic
| 329,957 |
Variant on chromosome X, at position 13768800, affecting OFD1 (OFD1 centriole and centriolar satellite protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
GCTCAGTCTGGGTCCTAAAGATAGGGGAGGGATTATAATCAAAGGCAGAGGCAGAAATGCAGGGTTTGCCTTGGAAAGGAGGGAGGAGATCTGTGAAGAGGATGAGAACATGTGACATGGAAGGAGGACAGTTGGAGTTGGTTATGGTGAGGGTGACGTATTTGTCTCAGTCAAGTGAAGTAGGGTACAGTTCAAGGAGTGGGGTCGGGAGCTTGAAGTCGGTGAAAATGAAATAGTGACTTGAAGCAGGTCACAGAGTCAACTAAAAGCCAAGCAGAGTCTCCGTGGGTCTTGGCAAGGGCTCCTGCAGACTGGTCCTGCATTCATTTGAATAATCTGATACTGGAAGCTACTCTTTATTTTCTGTCCTATTAGGTGTAGATCAGAAACAAATTGAAGAACAAAAGGAAGAAGAAAAAATACGGGAACAGCAAGTGAAAGAACGAAGGCAGAGAGAAGAAAGAAGGCAGAGTAACCTACAAGAAGTTTTAGAAAGGGAACGAAGAGAACTAGAAAAACTGTATCAGGAAAGGGTAATAAGTATGACTTGATTCTCTGAACTGGTTGCTCCATTGTACACCTTTCGTAAGTACATTGAGCTCAGGGAGGGGAGTCAATTGGTGTACAAAGTCAGAGGTGCGGCAGATGCCTTAAAAGGCATCCCTGTCCTCTCCTTGTCTTAAAAGCAGTGGGAAAGGCTGCACAGAATGTGAAGCTTAGGAGTTTTGTAGTAAAGGATAGTTTTTGAAGGTAATTTTTGTACATTCTCATCTGATCCTTAAAACAAGCCTGTAAAAAAGGTAGACTGTGCTTTGCTGCAGAACTTTGCTTTGAAAACAGGGTTTAAAGAAGAGACTGTCAGTGCCAGCTAGCTGGGACTAGAACCCAAGGGAGGAGTGGCTGCCAGTTCACAGTTGCTTCCAGGGGCACACACTCCCTCCCTCCTTCCTCTATTTCTCTTCTTGCCTTCTGTGTCCCAATTCTAGTCCTAGCAGATGGATTACTCTGTCCACTTAACACACCTGCTAAGTCTTGCTTGAATTACTCTAACATATGAATGTTCCTTGGACTCTTGGTTAATTCAAGTCCAAAGCACAGGACACTTGCCAATTAATACCTTCCTTCATTGAGATGACATATTTGTCTTCCTTTGATGATAGCAATGACTTCAATTTTAAAAATTAGTCCTCTGGCATACAGGCTGTACTTGAAGGATCGGGATTAATATTAGTGCATTTTTAAAACACTTAAAAGTTTTACAAATGTATTTGTGTATTTTCTGTTTTGGTGCCTGTTTTATAGAAGATGATTGAAGAATCACTGAAGATTAAAATAAAAAAGGAATTAGAAATGGAAAATGAATTAGAAATGAGTAATCAAGAAATAAAAGACAAATCTGCTCACAGTGAAAATCCTTTAGAGAAATACATGAAAATCATCCAGCAGGAGCAAGACCAGGAGTCGGCAGATAAGGTGCCAGTGCCATGGGCAGGGCAATCTGTGGGTGGGGGACATCCAGGGCTTCCGTGGCTTAACTTCTTGGGACGGGAATCCGTCTTCTCCATTGAAGACAAAAAGGTGAAAAGTATAGAAAATCCAAAGTTCAAATGGAACCTTGAGTCTTTTAAATATACTATTCTTTTGACAAAAATTCATAGCTTTTTTGCTTAAGGTAAAAGATTTAAGAGATTTTAATTTGTAAAAGTTGGGGTGGCTCATTAAGAAAGAAAAGATCTATCAAATGCATTAATACTGACATTAATATTTTATGTAAGTCTGAAGTATTATGGGTGTTAAATGCATACCCTATAGTTTATTTTGATGTGCTTGCTAAATTTCATGTTTAAAAGTCACCTCTTTTTTAGACTTTTAAATTACATATATATTTCAAAAATGGTTCTTAAAGTATTTCATGAAATTAATGCATATCTAATTTCAAAATTTTCCACCCTCTCCATGTAATCAGAGCTCAAAAAAGATGGTCCAAGAAGGCTCCCTAGTGGACACGCTGCAATCTAGTGACAAAGTCGAAAGGTACCTGTTTTCCCTACACACTTTCATACACAAACTGTTAATTGCTTATTTTGTCAGCCAAGAGAAACAGATGTTTGAGATTGCCTGTAAGAAGTTATTGAATCAGTCAAAATTAGTGACTATAAAAACAATTGAGTTTTTTGACTTGTGAAATTGATCCTGATATAAATTGTAAACTAGGGCAGAAACCCCCCAGGGAAGGAATTGAGAACATTATGAAGATAGCAAATAAACTTGACACAAATTTTTACATTTTAATTTTTATCTTTCCCTAATTTAGTTTAACAGGCTTTTCTCATGAAGAACTAGACGACTCTTGGTAACCATGTTTGCTGCCCAGCTTCTAACTTACATACCGTGAGAAGTTACGTAACATTTACTCCTTTGTAAATGTTTCCCTATCATCAGACAAAACTCAATAAAAATGTGTGTAATCCAATGTGGGTTTTTTTTTCCATAATTAATTTTGATACCATAGTGTGTGAACCAAGAATAATCTAGTCACGTGAAACCTCTTCTCCAGTCATAGTATTTCTCATTCATTATAATAAAAGTAACTGGCTTTTAACCTCCTTATTTTTGTCTTAAATTTATAAATGAGTATAACCTATCTTACTGCTCAACTGCAGGCCTACATTTTGGAAGTATAAGCTGTGTTCTTTCCTCTCCAAAGTTGGGCTGCCACCTGTAAAACAGGAGGTCATTTTTCCTAGCACACTCCTGTTTTGTCCCTGAACATAAAAACAGATTTTTCTAGGCATTAGAAATAGTAAGAAAGATACTGCCTCTGGTCTTTACTTCTGATGTCTGTGGTTTGTATGTATGTGTCCCTCCAAAATTCATATGTTGGAATTTAAACCCCCCCGTGTGATAGAATTAAGAGGTGGCACCTTTTGCAGGTGACTAAGAGTGGGATTAGTGACCTTATAAAAGGGCTCAATGGAACTAGCTAGGCCCTTTTGCCCTTGCACCATTTGAAGACACTGCATTGATCCCCTCTGGAGAACACAGCAACAAGGCACCATCTTGGAAGCCGAGACCGGGCCTTCACCAGACATCGAACCTGCCAGTGCCTTCCTTGATCTTCGACTTCCCAGCCTCTAAAACTGTAAGAAATACATTTCTGGTCTTTGTAAGTTACCCAGTCTAAGGTATTTTGCTATAGCAGCAGGAACAGACTGAGATAGCATCTTTATTATGGAACCTTTGGTCCTCATACTTAATGAATGGGCGTATTTCCTTTGTTTTTAAATGAATGGGCTCCTTCCCTATAATTGACTTCATCTCTTAAAAAATCAAGTTTTACAAGGCAGAACTGGAAAAAAATCTCTACTGAACCCTCTAAAGGGTCCTAGGTTTCGTGGCAGGATCACTATGGGTAATTAAGAGGCTGCTTGTGATTTTATCTAACCATTATTTACAGTTTTCCTCTGGTGACTCATGTGACTTAAATAATTGCACAAAATGCTACTTAAACAGAAGATACTAAGTAGTGTGACAAATAGCACACTAATTGAGCCTCCTGATTGTTCTGCCATGCATGAAGGAAGGGTGATGATCTAGAGTCAGCACCTCATTTAGGAATGGCCATGTGTCAATAGTGACAAAGGCTGGGCCTCACTAAGAAAGGTCAGACGCAGAGAATCCAAATGCATAATCATGTTGAGAGGTAAGAGTTTAAACAGATTATAAAATAAAATCCTAAGTAACATATTTAGCTTGGCTACTCTAGAGAGTCAACTGTTAGAACTAGGTTTTTTTGTATTCCAGAGTAAATCTTTCAATAGACTTTTGTACCTTTGGTTTGAAAAATAACTACACACATGCCCTTATTTTGTTTCTGCTTTGCCCACGTTTAAGCTTTGTTGATCCTATAGGTAGATGGCATTTATTTGTTGAAAAACTAGTCAGAAAAATTCTTACTTTATAGAGAACTACAGACGTGCTAGTGGCACTTTTATGCCCAATACAGCCCAGTGGATTATTTAATATTTTCTTTAATTGCTGAAGAGATTTTTGCCAGAAATAAAACAATTAGCACTCACAGATTTGATTTCCATAC
|
GCTCAGTCTGGGTCCTAAAGATAGGGGAGGGATTATAATCAAAGGCAGAGGCAGAAATGCAGGGTTTGCCTTGGAAAGGAGGGAGGAGATCTGTGAAGAGGATGAGAACATGTGACATGGAAGGAGGACAGTTGGAGTTGGTTATGGTGAGGGTGACGTATTTGTCTCAGTCAAGTGAAGTAGGGTACAGTTCAAGGAGTGGGGTCGGGAGCTTGAAGTCGGTGAAAATGAAATAGTGACTTGAAGCAGGTCACAGAGTCAACTAAAAGCCAAGCAGAGTCTCCGTGGGTCTTGGCAAGGGCTCCTGCAGACTGGTCCTGCATTCATTTGAATAATCTGATACTGGAAGCTACTCTTTATTTTCTGTCCTATTAGGTGTAGATCAGAAACAAATTGAAGAACAAAAGGAAGAAGAAAAAATACGGGAACAGCAAGTGAAAGAACGAAGGCAGAGAGAAGAAAGAAGGCAGAGTAACCTACAAGAAGTTTTAGAAAGGGAACGAAGAGAACTAGAAAAACTGTATCAGGAAAGGGTAATAAGTATGACTTGATTCTCTGAACTGGTTGCTCCATTGTACACCTTTCGTAAGTACATTGAGCTCAGGGAGGGGAGTCAATTGGTGTACAAAGTCAGAGGTGCGGCAGATGCCTTAAAAGGCATCCCTGTCCTCTCCTTGTCTTAAAAGCAGTGGGAAAGGCTGCACAGAATGTGAAGCTTAGGAGTTTTGTAGTAAAGGATAGTTTTTGAAGGTAATTTTTGTACATTCTCATCTGATCCTTAAAACAAGCCTGTAAAAAAGGTAGACTGTGCTTTGCTGCAGAACTTTGCTTTGAAAACAGGGTTTAAAGAAGAGACTGTCAGTGCCAGCTAGCTGGGACTAGAACCCAAGGGAGGAGTGGCTGCCAGTTCACAGTTGCTTCCAGGGGCACACACTCCCTCCCTCCTTCCTCTATTTCTCTTCTTGCCTTCTGTGTCCCAATTCTAGTCCTAGCAGATGGATTACTCTGTCCACTTAACACACCTGCTAAGTCTTGCTTGAATTACTCTAACATATGAATGTTCCTTGGACTCTTGGTTAATTCAAGTCCAAAGCACAGGACACTTGCCAATTAATACCTTCCTTCATTGAGATGACATATTTGTCTTCCTTTGATGATAGCAATGACTTCAATTTTAAAAATTAGTCCTCTGGCATACAGGCTGTACTTGAAGGATCGGGATTAATATTAGTGCATTTTTAAAACACTTAAAAGTTTTACAAATGTATTTGTGTATTTTCTGTTTTGGTGCCTGTTTTATAGAAGATGATTGAAGAATCACTGAAGATTAAAATAAAAAAGGAATTAGAAATGGAAAATGAATTAGAAATGAGTAATCAAGAAATAAAAGACAAATCTGCTCACAGTGAAAATCCTTTAGAGAAATACATGAAAATCATCCAGCAGGAGCAAGACCAGGAGTCGGCAGATAAGGTGCCAGTGCCATGGGCAGGGCAATCTGTGGGTGGGGGACATCCAGGGCTTCCGTGGCTTAACTTCTTGGGACGGGAATCCGTCTTCTCCATTGAAGACAAAAAGGTGAAAAGTATAGAAAATCCAAAGTTCAAATGGAACCTTGAGTCTTTTAAATATACTATTCTTTTGACAAAAATTCATAGCTTTTTTGCTTAAGGTAAAAGATTTAAGAGATTTTAATTTGTAAAAGTTGGGGTGGCTCATTAAGAAAGAAAAGATCTATCAAATGCATTAATACTGACATTAATATTTTATGTAAGTCTGAAGTATTATGGGTGTTAAATGCATACCCTATAGTTTATTTTGATGTGCTTGCTAAATTTCATGTTTAAAAGTCACCTCTTTTTTAGACTTTTAAATTACATATATATTTCAAAAATGGTTCTTAAAGTATTTCATGAAATTAATGCATATCTAATTTCAAAATTTTCCACCCTCTCCATGTAATCAGAGCTCAAAAAAGATGGTCCAAGAAGGCTCCCTAGTGGACACGCTGCAATCTAGTGACAAAGTCGAAAGGTACCTGTTTTCCCTACACTTTCATACACAAACTGTTAATTGCTTATTTTGTCAGCCAAGAGAAACAGATGTTTGAGATTGCCTGTAAGAAGTTATTGAATCAGTCAAAATTAGTGACTATAAAAACAATTGAGTTTTTTGACTTGTGAAATTGATCCTGATATAAATTGTAAACTAGGGCAGAAACCCCCCAGGGAAGGAATTGAGAACATTATGAAGATAGCAAATAAACTTGACACAAATTTTTACATTTTAATTTTTATCTTTCCCTAATTTAGTTTAACAGGCTTTTCTCATGAAGAACTAGACGACTCTTGGTAACCATGTTTGCTGCCCAGCTTCTAACTTACATACCGTGAGAAGTTACGTAACATTTACTCCTTTGTAAATGTTTCCCTATCATCAGACAAAACTCAATAAAAATGTGTGTAATCCAATGTGGGTTTTTTTTTCCATAATTAATTTTGATACCATAGTGTGTGAACCAAGAATAATCTAGTCACGTGAAACCTCTTCTCCAGTCATAGTATTTCTCATTCATTATAATAAAAGTAACTGGCTTTTAACCTCCTTATTTTTGTCTTAAATTTATAAATGAGTATAACCTATCTTACTGCTCAACTGCAGGCCTACATTTTGGAAGTATAAGCTGTGTTCTTTCCTCTCCAAAGTTGGGCTGCCACCTGTAAAACAGGAGGTCATTTTTCCTAGCACACTCCTGTTTTGTCCCTGAACATAAAAACAGATTTTTCTAGGCATTAGAAATAGTAAGAAAGATACTGCCTCTGGTCTTTACTTCTGATGTCTGTGGTTTGTATGTATGTGTCCCTCCAAAATTCATATGTTGGAATTTAAACCCCCCCGTGTGATAGAATTAAGAGGTGGCACCTTTTGCAGGTGACTAAGAGTGGGATTAGTGACCTTATAAAAGGGCTCAATGGAACTAGCTAGGCCCTTTTGCCCTTGCACCATTTGAAGACACTGCATTGATCCCCTCTGGAGAACACAGCAACAAGGCACCATCTTGGAAGCCGAGACCGGGCCTTCACCAGACATCGAACCTGCCAGTGCCTTCCTTGATCTTCGACTTCCCAGCCTCTAAAACTGTAAGAAATACATTTCTGGTCTTTGTAAGTTACCCAGTCTAAGGTATTTTGCTATAGCAGCAGGAACAGACTGAGATAGCATCTTTATTATGGAACCTTTGGTCCTCATACTTAATGAATGGGCGTATTTCCTTTGTTTTTAAATGAATGGGCTCCTTCCCTATAATTGACTTCATCTCTTAAAAAATCAAGTTTTACAAGGCAGAACTGGAAAAAAATCTCTACTGAACCCTCTAAAGGGTCCTAGGTTTCGTGGCAGGATCACTATGGGTAATTAAGAGGCTGCTTGTGATTTTATCTAACCATTATTTACAGTTTTCCTCTGGTGACTCATGTGACTTAAATAATTGCACAAAATGCTACTTAAACAGAAGATACTAAGTAGTGTGACAAATAGCACACTAATTGAGCCTCCTGATTGTTCTGCCATGCATGAAGGAAGGGTGATGATCTAGAGTCAGCACCTCATTTAGGAATGGCCATGTGTCAATAGTGACAAAGGCTGGGCCTCACTAAGAAAGGTCAGACGCAGAGAATCCAAATGCATAATCATGTTGAGAGGTAAGAGTTTAAACAGATTATAAAATAAAATCCTAAGTAACATATTTAGCTTGGCTACTCTAGAGAGTCAACTGTTAGAACTAGGTTTTTTTGTATTCCAGAGTAAATCTTTCAATAGACTTTTGTACCTTTGGTTTGAAAAATAACTACACACATGCCCTTATTTTGTTTCTGCTTTGCCCACGTTTAAGCTTTGTTGATCCTATAGGTAGATGGCATTTATTTGTTGAAAAACTAGTCAGAAAAATTCTTACTTTATAGAGAACTACAGACGTGCTAGTGGCACTTTTATGCCCAATACAGCCCAGTGGATTATTTAATATTTTCTTTAATTGCTGAAGAGATTTTTGCCAGAAATAAAACAATTAGCACTCACAGATTTGATTTCCATACNN
|
benign
| 329,963 |
Is the genetic variant on chromosome X, position 14850676, gene FANCB (FA complementation group B), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
AAAGATTGTGTTTCTGTTTTAAGGCTCTGTTAGAAATTACTGACACACACACTATATTGTAAATTCTTATCTCTGTATACTGTACTTCTACATACAAAAATGTACTGTACTTCTACATACAAATGTTATGTTAAAGAATTACTTCATCCCCACGTGACCATCTCACCTCATAATCAAACGACCCTAAATCCCTCACTAACCTACCCCCGCCCTCACTAACCTTAATAATAAATGCTGGTATATCCAGTGCATTGTTGGCAGTGTGGGACCAGAAAGCAGTGACCCCCCCGGACCCAGCTTTCACTATCTTGTGTGTGTGTGTTATTTCTCAACCTGCCGATCTGCCTAGGAACAAAGAGAGAGCCCCGTTGCATTGCGGGCTGCTGGCCAGATCCCGCAATAGGTAATTCCAAATTTACACAAACTGCTCCAGAGAACAGGAAAAAAGGAAATATTCCTCAATTCATTTATAAACTAGTATAGCCTTGATACTAAAATCAGGCAAGTATCATTCAAGAAAATTTCAAGCCAATTTCACTCATGAATTTAGATGCAAATATTCTTGACCAAAGGATAGCAAACCAAATCCAGTGACAAACTGTTTATCACAAGAATGCAAGACTGATTTTATAAGACAAAATTGATTAATATAGAGTACCACATTAAAGAAGAGAGAAGAAAAACCCAGATGATCAACCAGCCCAAAACAGCTTAGAAATTCACTGAAACAAAACAATAAATCCATATCTCAAACCCACTAGATAAGTAGTCTGGCTCCCTTACTGTGTTAAGCTGCTCAAATATACTGCCATCACCTATTACAAGGCACTACCTGGTTTCTCTGCGTACCCGTGGTTCAAATTCAATGTAGTTACTGTAATGCCTGTATTTAGCCTGTTTTGGCTAAAAAGCTCTTTGTTAGACTGCAGATATAGATGGCATGCACAATACTTCTCTATCCATGATTTCAACATCCCAAAAGAGAATATCGTCTGTTATCAGAGGGAGAGATACTTTGTTATTTAACGAAATTTTTACCTATTCACTTTGGTCAATAGTCTCTAAGTATCCCTAATACCTCTAAATATTTTGATTAGAAAGTTCTGTATGCTGTTTGATTATCTTCACCGTGAGACTATAGCATCTTAATTTCATAAACCTCATCCTCTTCATATTATTAACTCAATGCATTTGTGTAAAAGAGATACTTCTAGAGCTGTGCTGGCCAAGAGAGTAGCTATTAGATACATGTGGCTATTAAGCACTAGAAATGTGGCTAGTTGGAATTGTGATGTGTTATACATGTAAAATACACACCAAATTTTTAAAACTTTGTATGAAAAAATAAATGCAAAATATCTTATTAATAATTTTTATACTAATTACATGTTAAAATAATGTTTTGGATATATTGGGTTAAATAAAACATATCATTAAAATGGCCAGGCATGGTGGCTCATGCCTGTAGTCCCAGCATTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACACGGCAAAACTCCGTGTCTACTAAAAATACAAAAACTAGCCGGGCATGATGGTGCGTGCCTGTAATCCCAGCTACTGGGGATGCTGAGGCATAAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATCCCACTGCACTCCATCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAACAGTAATAATAATTTCCCTTGCTTCTATTTACATTTTTAAATATGGCCTCTAGAACATTTAAAATTGCACGTGGCTTACATTAATTTCTATTGGACAGTACTGTTCTGGAGCATCAAGACAGTGTTATCATGTTGGAATTTACTTACAGCTTCAAAGAAGATGTAGTTTTCACTCCAACAACCAAGCTATCATCTATTACACGATACCATATCTTCTCTACTAGCTGTTCTGAATCTTGAAAATTGTCTGATAACTTTTCATCTAAGATATGGACAGAATTTTCTTCTTCACCACAAAGAGGAACAAGACATTCCTTCTAAAAAAAAAAGTTTAAATAACTGATTATAAAATACGTACCGTCTGTAGCAAAACTAAAAAAAAAAAAAAGTTAAGTGTGCTTTTGGCTAGGGCTTATGGCCCAAACATTTAAAAACAAATAACATATCATATTATAGATTATACACAATTTACTAAAATGAAATGTATAAAATATATAAAATTCCCTATCTATTCAGATCAAGAGGCATGGCATGACTGGGGTATGGCAAGATGGGGTATCCAACAAAGAGCCAAAAGGGAGGTAAACCTGGAGTCCATTTTGAAAAAAAAAAGTCTGATAATATGTACCCCAGTTATACTGAAAATAATCCAGTCTGTATTTTATCAGTGACTTGCACTAAGCCTATAACTGTAAACTTTTGTATGAATAAAACTGATTAAACTATCTTTAGACTACTTATAGCTTATTGCTAAAATTTTATTCTTAAAGTCCAAGCCATATTCATTTCCACACACATGTGGATATATAACATTCGAAAGAGTAGTAATAAGAATAATAGTAACGATAATAATAATATACAACATCTATTGAGTGTTTACTTTATGCCAGGCACTGTTCCAAATGCCATTTGTGTATCAATTCATTTAACCCACACAATAACCCTAGTGCCCTAGGTCTGTGGTATTATCATCTACATTTTACAGATTAGAAAAATGAGGTACAGGGAAGTTATGTAACTTGCCCAGGGTCACACAGTTAGCAAGTAGCAAGGCTGGGATTTGAACTGAAGCCAACTCGTTCCAGAGCCCATGCTCTTCCTTAACTATTACCCTATACTGCCTCTCCATGTGGTAATTACTAAAGATAGAGGCATTCACTCAATAGGAGACTAAATATGTTCCCAGGAATCTGACACTACTGCCAGTAGCTGCGAGTTCTGAAGCAGGCTATTCATCTGAAACCTGGGGAAATTTTTACTACCTGCCGCCAGGTTTGCTTTTAAAACTAACAATGTAAAGAGCCAAAAATGGGGCCTTGCACATAGTGGTTTCAATATATTAATTTCTAAACAACCCTTCCCCTTTCTAAAATTGGCAAAATCATTGAGGTGAGGAAAGGAAATGGTGAAACAATTTTAACAATGACTTTCATGAGGTTTCCCAGGAAATTAGAACAGTAATATAGAAATGCAACACAATGTTTTTTTGTTACGTTTTATTACATTAACAAGATCATATTTTGGACCCAAACCCTTACATGGCTAAGACTGAAATACAAACACAAAGCATAGCCCATGACAAGAATGGTCAATCCAGAAGGAAGTCAGAGCTAGGCACTACAGTGACTTGAGGGAATAAAATGCAACATTAGTTCAGCTCTTACTGATTTACTATAGTGTTGCTGTGCTGTGCCTTTCTCTGTATGAAATTAATGTGCATAAATATTATTTTTATGAAGTTTCAGCAGTTTTTGCTAACTTCCTACATTAATGTACTGACATAAGTTACCACATAAGAGACCCAAGGAGGTTCTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTTATTCTCCTACCTCAACCTCCCAAGTAGCTGGGATTACAGGCACGAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTCTCACCATGTTGGCCAGGACTGTCTCAATCTCTTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCTGAGGAGGATCTTATGATGATCAGCCACAAGGAAAAAGAGAGTAAAATTATGAAAAGCAGATAGAAGGACTAAAAAAACCCATAGCAGTGTAGGAACATTTGCTAGAGGAAAAAATAACCTTAGAAACAAACAATCCAACAGACTAAAAGAACAATCATTATCCTAATAATAAAATTATCTCATCACCAATACAAAGTTAAATAATACTCAGTATATTCTATTTAAGTCAGTAAATACATAATTCACTTATGAGTA
|
AAAGATTGTGTTTCTGTTTTAAGGCTCTGTTAGAAATTACTGACACACACACTATATTGTAAATTCTTATCTCTGTATACTGTACTTCTACATACAAAAATGTACTGTACTTCTACATACAAATGTTATGTTAAAGAATTACTTCATCCCCACGTGACCATCTCACCTCATAATCAAACGACCCTAAATCCCTCACTAACCTACCCCCGCCCTCACTAACCTTAATAATAAATGCTGGTATATCCAGTGCATTGTTGGCAGTGTGGGACCAGAAAGCAGTGACCCCCCCGGACCCAGCTTTCACTATCTTGTGTGTGTGTGTTATTTCTCAACCTGCCGATCTGCCTAGGAACAAAGAGAGAGCCCCGTTGCATTGCGGGCTGCTGGCCAGATCCCGCAATAGGTAATTCCAAATTTACACAAACTGCTCCAGAGAACAGGAAAAAAGGAAATATTCCTCAATTCATTTATAAACTAGTATAGCCTTGATACTAAAATCAGGCAAGTATCATTCAAGAAAATTTCAAGCCAATTTCACTCATGAATTTAGATGCAAATATTCTTGACCAAAGGATAGCAAACCAAATCCAGTGACAAACTGTTTATCACAAGAATGCAAGACTGATTTTATAAGACAAAATTGATTAATATAGAGTACCACATTAAAGAAGAGAGAAGAAAAACCCAGATGATCAACCAGCCCAAAACAGCTTAGAAATTCACTGAAACAAAACAATAAATCCATATCTCAAACCCACTAGATAAGTAGTCTGGCTCCCTTACTGTGTTAAGCTGCTCAAATATACTGCCATCACCTATTACAAGGCACTACCTGGTTTCTCTGCGTACCCGTGGTTCAAATTCAATGTAGTTACTGTAATGCCTGTATTTAGCCTGTTTTGGCTAAAAAGCTCTTTGTTAGACTGCAGATATAGATGGCATGCACAATACTTCTCTATCCATGATTTCAACATCCCAAAAGAGAATATCGTCTGTTATCAGAGGGAGAGATACTTTGTTATTTAACGAAATTTTTACCTATTCACTTTGGTCAATAGTCTCTAAGTATCCCTAATACCTCTAAATATTTTGATTAGAAAGTTCTGTATGCTGTTTGATTATCTTCACCGTGAGACTATAGCATCTTAATTTCATAAACCTCATCCTCTTCATATTATTAACTCAATGCATTTGTGTAAAAGAGATACTTCTAGAGCTGTGCTGGCCAAGAGAGTAGCTATTAGATACATGTGGCTATTAAGCACTAGAAATGTGGCTAGTTGGAATTGTGATGTGTTATACATGTAAAATACACACCAAATTTTTAAAACTTTGTATGAAAAAATAAATGCAAAATATCTTATTAATAATTTTTATACTAATTACATGTTAAAATAATGTTTTGGATATATTGGGTTAAATAAAACATATCATTAAAATGGCCAGGCATGGTGGCTCATGCCTGTAGTCCCAGCATTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACACGGCAAAACTCCGTGTCTACTAAAAATACAAAAACTAGCCGGGCATGATGGTGCGTGCCTGTAATCCCAGCTACTGGGGATGCTGAGGCATAAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATCCCACTGCACTCCATCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAACAGTAATAATAATTTCCCTTGCTTCTATTTACATTTTTAAATATGGCCTCTAGAACATTTAAAATTGCACGTGGCTTACATTAATTTCTATTGGACAGTACTGTTCTGGAGCATCAAGACAGTGTTATCATGTTGGAATTTACTTACAGCTTCAAAGAAGATGTAGTTTTCACTCCAACAACCAAGCTATCATCTATTACACGATACCATATCTTCTCTACTAGCTGTTCTGAATCTTGAAAATTGTCTGATAACTTTTCATCTAAGATATGGACAGAATTTTCTTCTTCACCACAAAGAGGAACAAGACATTCCTTCTAAAAAAAAAAAGTTTAAATAACTGATTATAAAATACGTACCGTCTGTAGCAAAACTAAAAAAAAAAAAAAGTTAAGTGTGCTTTTGGCTAGGGCTTATGGCCCAAACATTTAAAAACAAATAACATATCATATTATAGATTATACACAATTTACTAAAATGAAATGTATAAAATATATAAAATTCCCTATCTATTCAGATCAAGAGGCATGGCATGACTGGGGTATGGCAAGATGGGGTATCCAACAAAGAGCCAAAAGGGAGGTAAACCTGGAGTCCATTTTGAAAAAAAAAAGTCTGATAATATGTACCCCAGTTATACTGAAAATAATCCAGTCTGTATTTTATCAGTGACTTGCACTAAGCCTATAACTGTAAACTTTTGTATGAATAAAACTGATTAAACTATCTTTAGACTACTTATAGCTTATTGCTAAAATTTTATTCTTAAAGTCCAAGCCATATTCATTTCCACACACATGTGGATATATAACATTCGAAAGAGTAGTAATAAGAATAATAGTAACGATAATAATAATATACAACATCTATTGAGTGTTTACTTTATGCCAGGCACTGTTCCAAATGCCATTTGTGTATCAATTCATTTAACCCACACAATAACCCTAGTGCCCTAGGTCTGTGGTATTATCATCTACATTTTACAGATTAGAAAAATGAGGTACAGGGAAGTTATGTAACTTGCCCAGGGTCACACAGTTAGCAAGTAGCAAGGCTGGGATTTGAACTGAAGCCAACTCGTTCCAGAGCCCATGCTCTTCCTTAACTATTACCCTATACTGCCTCTCCATGTGGTAATTACTAAAGATAGAGGCATTCACTCAATAGGAGACTAAATATGTTCCCAGGAATCTGACACTACTGCCAGTAGCTGCGAGTTCTGAAGCAGGCTATTCATCTGAAACCTGGGGAAATTTTTACTACCTGCCGCCAGGTTTGCTTTTAAAACTAACAATGTAAAGAGCCAAAAATGGGGCCTTGCACATAGTGGTTTCAATATATTAATTTCTAAACAACCCTTCCCCTTTCTAAAATTGGCAAAATCATTGAGGTGAGGAAAGGAAATGGTGAAACAATTTTAACAATGACTTTCATGAGGTTTCCCAGGAAATTAGAACAGTAATATAGAAATGCAACACAATGTTTTTTTGTTACGTTTTATTACATTAACAAGATCATATTTTGGACCCAAACCCTTACATGGCTAAGACTGAAATACAAACACAAAGCATAGCCCATGACAAGAATGGTCAATCCAGAAGGAAGTCAGAGCTAGGCACTACAGTGACTTGAGGGAATAAAATGCAACATTAGTTCAGCTCTTACTGATTTACTATAGTGTTGCTGTGCTGTGCCTTTCTCTGTATGAAATTAATGTGCATAAATATTATTTTTATGAAGTTTCAGCAGTTTTTGCTAACTTCCTACATTAATGTACTGACATAAGTTACCACATAAGAGACCCAAGGAGGTTCTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTTATTCTCCTACCTCAACCTCCCAAGTAGCTGGGATTACAGGCACGAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTCTCACCATGTTGGCCAGGACTGTCTCAATCTCTTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCTGAGGAGGATCTTATGATGATCAGCCACAAGGAAAAAGAGAGTAAAATTATGAAAAGCAGATAGAAGGACTAAAAAAACCCATAGCAGTGTAGGAACATTTGCTAGAGGAAAAAATAACCTTAGAAACAAACAATCCAACAGACTAAAAGAACAATCATTATCCTAATAATAAAATTATCTCATCACCAATACAAAGTTAAATAATACTCAGTATATTCTATTTAAGTCAGTAAATACATAATTCACTTATGAGT
|
benign
| 330,005 |
Clinical significance of chromosome X, position 14850676, gene FANCB (FA complementation group B): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
AAAGATTGTGTTTCTGTTTTAAGGCTCTGTTAGAAATTACTGACACACACACTATATTGTAAATTCTTATCTCTGTATACTGTACTTCTACATACAAAAATGTACTGTACTTCTACATACAAATGTTATGTTAAAGAATTACTTCATCCCCACGTGACCATCTCACCTCATAATCAAACGACCCTAAATCCCTCACTAACCTACCCCCGCCCTCACTAACCTTAATAATAAATGCTGGTATATCCAGTGCATTGTTGGCAGTGTGGGACCAGAAAGCAGTGACCCCCCCGGACCCAGCTTTCACTATCTTGTGTGTGTGTGTTATTTCTCAACCTGCCGATCTGCCTAGGAACAAAGAGAGAGCCCCGTTGCATTGCGGGCTGCTGGCCAGATCCCGCAATAGGTAATTCCAAATTTACACAAACTGCTCCAGAGAACAGGAAAAAAGGAAATATTCCTCAATTCATTTATAAACTAGTATAGCCTTGATACTAAAATCAGGCAAGTATCATTCAAGAAAATTTCAAGCCAATTTCACTCATGAATTTAGATGCAAATATTCTTGACCAAAGGATAGCAAACCAAATCCAGTGACAAACTGTTTATCACAAGAATGCAAGACTGATTTTATAAGACAAAATTGATTAATATAGAGTACCACATTAAAGAAGAGAGAAGAAAAACCCAGATGATCAACCAGCCCAAAACAGCTTAGAAATTCACTGAAACAAAACAATAAATCCATATCTCAAACCCACTAGATAAGTAGTCTGGCTCCCTTACTGTGTTAAGCTGCTCAAATATACTGCCATCACCTATTACAAGGCACTACCTGGTTTCTCTGCGTACCCGTGGTTCAAATTCAATGTAGTTACTGTAATGCCTGTATTTAGCCTGTTTTGGCTAAAAAGCTCTTTGTTAGACTGCAGATATAGATGGCATGCACAATACTTCTCTATCCATGATTTCAACATCCCAAAAGAGAATATCGTCTGTTATCAGAGGGAGAGATACTTTGTTATTTAACGAAATTTTTACCTATTCACTTTGGTCAATAGTCTCTAAGTATCCCTAATACCTCTAAATATTTTGATTAGAAAGTTCTGTATGCTGTTTGATTATCTTCACCGTGAGACTATAGCATCTTAATTTCATAAACCTCATCCTCTTCATATTATTAACTCAATGCATTTGTGTAAAAGAGATACTTCTAGAGCTGTGCTGGCCAAGAGAGTAGCTATTAGATACATGTGGCTATTAAGCACTAGAAATGTGGCTAGTTGGAATTGTGATGTGTTATACATGTAAAATACACACCAAATTTTTAAAACTTTGTATGAAAAAATAAATGCAAAATATCTTATTAATAATTTTTATACTAATTACATGTTAAAATAATGTTTTGGATATATTGGGTTAAATAAAACATATCATTAAAATGGCCAGGCATGGTGGCTCATGCCTGTAGTCCCAGCATTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACACGGCAAAACTCCGTGTCTACTAAAAATACAAAAACTAGCCGGGCATGATGGTGCGTGCCTGTAATCCCAGCTACTGGGGATGCTGAGGCATAAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATCCCACTGCACTCCATCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAACAGTAATAATAATTTCCCTTGCTTCTATTTACATTTTTAAATATGGCCTCTAGAACATTTAAAATTGCACGTGGCTTACATTAATTTCTATTGGACAGTACTGTTCTGGAGCATCAAGACAGTGTTATCATGTTGGAATTTACTTACAGCTTCAAAGAAGATGTAGTTTTCACTCCAACAACCAAGCTATCATCTATTACACGATACCATATCTTCTCTACTAGCTGTTCTGAATCTTGAAAATTGTCTGATAACTTTTCATCTAAGATATGGACAGAATTTTCTTCTTCACCACAAAGAGGAACAAGACATTCCTTCTAAAAAAAAAAGTTTAAATAACTGATTATAAAATACGTACCGTCTGTAGCAAAACTAAAAAAAAAAAAAAGTTAAGTGTGCTTTTGGCTAGGGCTTATGGCCCAAACATTTAAAAACAAATAACATATCATATTATAGATTATACACAATTTACTAAAATGAAATGTATAAAATATATAAAATTCCCTATCTATTCAGATCAAGAGGCATGGCATGACTGGGGTATGGCAAGATGGGGTATCCAACAAAGAGCCAAAAGGGAGGTAAACCTGGAGTCCATTTTGAAAAAAAAAAGTCTGATAATATGTACCCCAGTTATACTGAAAATAATCCAGTCTGTATTTTATCAGTGACTTGCACTAAGCCTATAACTGTAAACTTTTGTATGAATAAAACTGATTAAACTATCTTTAGACTACTTATAGCTTATTGCTAAAATTTTATTCTTAAAGTCCAAGCCATATTCATTTCCACACACATGTGGATATATAACATTCGAAAGAGTAGTAATAAGAATAATAGTAACGATAATAATAATATACAACATCTATTGAGTGTTTACTTTATGCCAGGCACTGTTCCAAATGCCATTTGTGTATCAATTCATTTAACCCACACAATAACCCTAGTGCCCTAGGTCTGTGGTATTATCATCTACATTTTACAGATTAGAAAAATGAGGTACAGGGAAGTTATGTAACTTGCCCAGGGTCACACAGTTAGCAAGTAGCAAGGCTGGGATTTGAACTGAAGCCAACTCGTTCCAGAGCCCATGCTCTTCCTTAACTATTACCCTATACTGCCTCTCCATGTGGTAATTACTAAAGATAGAGGCATTCACTCAATAGGAGACTAAATATGTTCCCAGGAATCTGACACTACTGCCAGTAGCTGCGAGTTCTGAAGCAGGCTATTCATCTGAAACCTGGGGAAATTTTTACTACCTGCCGCCAGGTTTGCTTTTAAAACTAACAATGTAAAGAGCCAAAAATGGGGCCTTGCACATAGTGGTTTCAATATATTAATTTCTAAACAACCCTTCCCCTTTCTAAAATTGGCAAAATCATTGAGGTGAGGAAAGGAAATGGTGAAACAATTTTAACAATGACTTTCATGAGGTTTCCCAGGAAATTAGAACAGTAATATAGAAATGCAACACAATGTTTTTTTGTTACGTTTTATTACATTAACAAGATCATATTTTGGACCCAAACCCTTACATGGCTAAGACTGAAATACAAACACAAAGCATAGCCCATGACAAGAATGGTCAATCCAGAAGGAAGTCAGAGCTAGGCACTACAGTGACTTGAGGGAATAAAATGCAACATTAGTTCAGCTCTTACTGATTTACTATAGTGTTGCTGTGCTGTGCCTTTCTCTGTATGAAATTAATGTGCATAAATATTATTTTTATGAAGTTTCAGCAGTTTTTGCTAACTTCCTACATTAATGTACTGACATAAGTTACCACATAAGAGACCCAAGGAGGTTCTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTTATTCTCCTACCTCAACCTCCCAAGTAGCTGGGATTACAGGCACGAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTCTCACCATGTTGGCCAGGACTGTCTCAATCTCTTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCTGAGGAGGATCTTATGATGATCAGCCACAAGGAAAAAGAGAGTAAAATTATGAAAAGCAGATAGAAGGACTAAAAAAACCCATAGCAGTGTAGGAACATTTGCTAGAGGAAAAAATAACCTTAGAAACAAACAATCCAACAGACTAAAAGAACAATCATTATCCTAATAATAAAATTATCTCATCACCAATACAAAGTTAAATAATACTCAGTATATTCTATTTAAGTCAGTAAATACATAATTCACTTATGAGTA
|
AAAGATTGTGTTTCTGTTTTAAGGCTCTGTTAGAAATTACTGACACACACACTATATTGTAAATTCTTATCTCTGTATACTGTACTTCTACATACAAAAATGTACTGTACTTCTACATACAAATGTTATGTTAAAGAATTACTTCATCCCCACGTGACCATCTCACCTCATAATCAAACGACCCTAAATCCCTCACTAACCTACCCCCGCCCTCACTAACCTTAATAATAAATGCTGGTATATCCAGTGCATTGTTGGCAGTGTGGGACCAGAAAGCAGTGACCCCCCCGGACCCAGCTTTCACTATCTTGTGTGTGTGTGTTATTTCTCAACCTGCCGATCTGCCTAGGAACAAAGAGAGAGCCCCGTTGCATTGCGGGCTGCTGGCCAGATCCCGCAATAGGTAATTCCAAATTTACACAAACTGCTCCAGAGAACAGGAAAAAAGGAAATATTCCTCAATTCATTTATAAACTAGTATAGCCTTGATACTAAAATCAGGCAAGTATCATTCAAGAAAATTTCAAGCCAATTTCACTCATGAATTTAGATGCAAATATTCTTGACCAAAGGATAGCAAACCAAATCCAGTGACAAACTGTTTATCACAAGAATGCAAGACTGATTTTATAAGACAAAATTGATTAATATAGAGTACCACATTAAAGAAGAGAGAAGAAAAACCCAGATGATCAACCAGCCCAAAACAGCTTAGAAATTCACTGAAACAAAACAATAAATCCATATCTCAAACCCACTAGATAAGTAGTCTGGCTCCCTTACTGTGTTAAGCTGCTCAAATATACTGCCATCACCTATTACAAGGCACTACCTGGTTTCTCTGCGTACCCGTGGTTCAAATTCAATGTAGTTACTGTAATGCCTGTATTTAGCCTGTTTTGGCTAAAAAGCTCTTTGTTAGACTGCAGATATAGATGGCATGCACAATACTTCTCTATCCATGATTTCAACATCCCAAAAGAGAATATCGTCTGTTATCAGAGGGAGAGATACTTTGTTATTTAACGAAATTTTTACCTATTCACTTTGGTCAATAGTCTCTAAGTATCCCTAATACCTCTAAATATTTTGATTAGAAAGTTCTGTATGCTGTTTGATTATCTTCACCGTGAGACTATAGCATCTTAATTTCATAAACCTCATCCTCTTCATATTATTAACTCAATGCATTTGTGTAAAAGAGATACTTCTAGAGCTGTGCTGGCCAAGAGAGTAGCTATTAGATACATGTGGCTATTAAGCACTAGAAATGTGGCTAGTTGGAATTGTGATGTGTTATACATGTAAAATACACACCAAATTTTTAAAACTTTGTATGAAAAAATAAATGCAAAATATCTTATTAATAATTTTTATACTAATTACATGTTAAAATAATGTTTTGGATATATTGGGTTAAATAAAACATATCATTAAAATGGCCAGGCATGGTGGCTCATGCCTGTAGTCCCAGCATTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACACGGCAAAACTCCGTGTCTACTAAAAATACAAAAACTAGCCGGGCATGATGGTGCGTGCCTGTAATCCCAGCTACTGGGGATGCTGAGGCATAAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATCCCACTGCACTCCATCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAACAGTAATAATAATTTCCCTTGCTTCTATTTACATTTTTAAATATGGCCTCTAGAACATTTAAAATTGCACGTGGCTTACATTAATTTCTATTGGACAGTACTGTTCTGGAGCATCAAGACAGTGTTATCATGTTGGAATTTACTTACAGCTTCAAAGAAGATGTAGTTTTCACTCCAACAACCAAGCTATCATCTATTACACGATACCATATCTTCTCTACTAGCTGTTCTGAATCTTGAAAATTGTCTGATAACTTTTCATCTAAGATATGGACAGAATTTTCTTCTTCACCACAAAGAGGAACAAGACATTCCTTCTAAAAAAAAAGTTTAAATAACTGATTATAAAATACGTACCGTCTGTAGCAAAACTAAAAAAAAAAAAAAGTTAAGTGTGCTTTTGGCTAGGGCTTATGGCCCAAACATTTAAAAACAAATAACATATCATATTATAGATTATACACAATTTACTAAAATGAAATGTATAAAATATATAAAATTCCCTATCTATTCAGATCAAGAGGCATGGCATGACTGGGGTATGGCAAGATGGGGTATCCAACAAAGAGCCAAAAGGGAGGTAAACCTGGAGTCCATTTTGAAAAAAAAAAGTCTGATAATATGTACCCCAGTTATACTGAAAATAATCCAGTCTGTATTTTATCAGTGACTTGCACTAAGCCTATAACTGTAAACTTTTGTATGAATAAAACTGATTAAACTATCTTTAGACTACTTATAGCTTATTGCTAAAATTTTATTCTTAAAGTCCAAGCCATATTCATTTCCACACACATGTGGATATATAACATTCGAAAGAGTAGTAATAAGAATAATAGTAACGATAATAATAATATACAACATCTATTGAGTGTTTACTTTATGCCAGGCACTGTTCCAAATGCCATTTGTGTATCAATTCATTTAACCCACACAATAACCCTAGTGCCCTAGGTCTGTGGTATTATCATCTACATTTTACAGATTAGAAAAATGAGGTACAGGGAAGTTATGTAACTTGCCCAGGGTCACACAGTTAGCAAGTAGCAAGGCTGGGATTTGAACTGAAGCCAACTCGTTCCAGAGCCCATGCTCTTCCTTAACTATTACCCTATACTGCCTCTCCATGTGGTAATTACTAAAGATAGAGGCATTCACTCAATAGGAGACTAAATATGTTCCCAGGAATCTGACACTACTGCCAGTAGCTGCGAGTTCTGAAGCAGGCTATTCATCTGAAACCTGGGGAAATTTTTACTACCTGCCGCCAGGTTTGCTTTTAAAACTAACAATGTAAAGAGCCAAAAATGGGGCCTTGCACATAGTGGTTTCAATATATTAATTTCTAAACAACCCTTCCCCTTTCTAAAATTGGCAAAATCATTGAGGTGAGGAAAGGAAATGGTGAAACAATTTTAACAATGACTTTCATGAGGTTTCCCAGGAAATTAGAACAGTAATATAGAAATGCAACACAATGTTTTTTTGTTACGTTTTATTACATTAACAAGATCATATTTTGGACCCAAACCCTTACATGGCTAAGACTGAAATACAAACACAAAGCATAGCCCATGACAAGAATGGTCAATCCAGAAGGAAGTCAGAGCTAGGCACTACAGTGACTTGAGGGAATAAAATGCAACATTAGTTCAGCTCTTACTGATTTACTATAGTGTTGCTGTGCTGTGCCTTTCTCTGTATGAAATTAATGTGCATAAATATTATTTTTATGAAGTTTCAGCAGTTTTTGCTAACTTCCTACATTAATGTACTGACATAAGTTACCACATAAGAGACCCAAGGAGGTTCTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTTATTCTCCTACCTCAACCTCCCAAGTAGCTGGGATTACAGGCACGAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTCTCACCATGTTGGCCAGGACTGTCTCAATCTCTTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCTGAGGAGGATCTTATGATGATCAGCCACAAGGAAAAAGAGAGTAAAATTATGAAAAGCAGATAGAAGGACTAAAAAAACCCATAGCAGTGTAGGAACATTTGCTAGAGGAAAAAATAACCTTAGAAACAAACAATCCAACAGACTAAAAGAACAATCATTATCCTAATAATAAAATTATCTCATCACCAATACAAAGTTAAATAATACTCAGTATATTCTATTTAAGTCAGTAAATACATAATTCACTTATGAGTAN
|
benign
| 330,006 |
Clinical classification of chromosome X, position 14857956, gene FANCB (FA complementation group B): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
ATTTGATAATTTATTCTTAGAGTGTCAGCTTTTTGAAGCTTCTAAGAATGTTTTTAAAGGAGACTTCATCTATCATTTTCAGTTTTAATCAGGAGAGTTGGTCCTGCTTCATAAATTAAGCCTTTCATAAAGTCATGCTTTCATAAATTAAAGTACTTTGGCATCATTTCTAAATCAGTATAAAAATATACACTATTCTTTTTGACAGCTACATAGTATTCCATAGTTCAGGCACATCACAATTTACTTATCATACTCCTAATGATGTATGTTTAGATTTGGACCAATATTGTAGTTTATAAATACTACATAAACATTCTTGTAAAATCATCTTCATCCTTAGAAGAGATTTCTAGAAGTGAAACTGCAAGAGTAAAAAGACATAAGTAATTCATATTTTAGCAACTATAATAACTTTTCCTCTGAGAAGGTTGGGTCACTCACTATACATTCACAAAAATACTATAGAAGAATGTACTTTTATATTAAGAAAATTAATATTTTGTCAGGTATTACAATTTCTTTTTTCACAATTTGTCTTATTACATTTACTTTGTTCAGGGTACAAAAATTTTGAATAGATCAATGTCTTCATTCATGGTTCTGTCTGTTATGATGTTTATCTATTGTTCAAATTCATGTCTAATATGTGTTCAATAAGCATTTATTAAAGTGAACTCACTCTAATAATGAAATAGTTGCAAAATAATTTTAAAACAACCTGCAAAGTATAAATATTTACCACCTGGCCCTTTCCAGAAAAAGTTTTCCAACCCTAGGCAAAGAAGAAAAAGTTCAATAACACAGCAAGAAAAGAGACAAATCCAAAAGAGAGGATACAACTAGCGTGGCCTCCTCTTTAGCATAATTTTTAAAAGGGGGAAGGGGGAATTATTCTACATAAAAAGACCAATAAGAGATATAATCAAATGCGAGTAAAAACTTTGATAGATTGGATCCTGGAAAAAACAGTTATAAAAACATTTTTGTGATAACTAAATATATTTGAATATGGACAAGATAGCAAATAAGATTAAGGGATCATTAACAATTTTCTAACTTTGATAATGGTATTATAGTTGCATGAGGAGAATATCCTTATTTTTAGGAGATTCCTGCTGAAATACCTATGAGTGAAATATAACATGTGCAACTTTTAAATGGTTCTACAAAAATATATACACACATACACACACAAACACAAACACATGAGGCCAATAAGATTTTTAAAAGTAACAAGAATTGAATGTATTGGGGATACAGAGATAATCACTGTATTCCTGGAATGTTTCTGTATATTTGAAAATGCTATAAACAAAAAAGGCAGCTTACAAAAGAACATACATCTTATAATCACATTTCTATGTAATGCGTATATTCATTTAAAAATCTGCAAGAATATACAGGGCAAAGTGTTAAAATTGGTTATTGCAAAATAGTGGAATCACAGACAATCATTAGGTTTTTTTTATTTTGTTTTGTTTTGACATTTCTTTGCAAAGCCTCAGTATTTTACAGGGAATGTTCATTACCTTGGTACATTTGGGAAAAAAAATAAAAACTCTTTTGTGGAGCTTTTTATGGAAAATATGAGAGTAAACTGTTCATGTCTGGAATGCATTATGATTTATCATATTCGCTGCTACTCTAAAAAGATACTGTGGTATACTGATCCCAGAAAGAATGTGTTTTCAAAAGTGAGCTGCTTCTATTTTGTCTCATGAGGCTTATTAAATCTATATAGTCTTACTACAAAAAAGGTATGTTTAGATGATACATTTATAAGTAGTATCATAATATTTGTACAGAGGTGCCAAAAAGATAAAGATCCTTTGAAATACCATTTTTACCCAAGCACCAAGTTGCTTATACTTTAAGGACCTTTCTTTCAATGTTCTTTCCTTCATTTAGAATAACACTAATCGAAAAGCAAAAGAAGCAAACAGACACTAACTTTCAGTCCTGTTTCTAGAGGTGGAACCACCAGGTAACGATTCTCTTGTTTGTCTTCAAATAAGTCATCTTCATTGCAATCTGATGGTTCACTCTAATAAATAAATAAATAAATAAATACACTAAGACTGAAATTTTGCAACAATTGAAAATTCACAAAACTAACAAAATACAATTAAAGTATATCCAGTCAGAACAGTTTCCCTAGTGTGTATAAAATACACACTATTTTATAAAAGGCAAACTATAGGCCAGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGCCCACAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGGGGCGGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCATGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAATAAACAAAGGCAAACTATATATTTTCCCCATCATCTTCTTGTAACTAGAAAAAAATTATTATGATTCCTACTACTACCACCTAACATTTATATACTGCTTTACAAAGTATCAGCTGGTTAGCTTTCTTTTTAAAGAGTAAACATTTTTCCATTTATTTATTTAAGAGACAGTGTCTTGCTCTGACACCCAGGTTGAAGTGCAACATAATAATCATAGCTCACTGCAGCCTTGAATTCCTGGGCTCTCATTAGCTTTTTAAAAAATCCTAAAATCCCATAACTGGAGAAAATTAAAATTATGCTAATTTTACAAATGAAAAAACTGAGGCTTAGAGAGATTTTGTATTGATCTGAAACTTCAGGGGCATAATTTCCCTTATGTCCAATATCTCAAGATATTGTGAGCTGTTACTTCCTTTACTAAAGCAATTTTGCTTCATTTTATTCCTTATTTAATCCAATATTATATTTATTGGTATAAAATGTGATTTTCAGAAGCAAAAATAAAGTTAATTTATAGTACTGCTGTCACTTAAGTGACCACCAAATGTACTACAATTCAAATTTATATCAAAAGCATGGTCAATTTGTATAACATTTGTTGAAAGGAGATTCAATGTATATATTTAAAAGATTCAATCTATATATTTTTAAAGTTCAAAATTTTAAGTATAAAACCACCAATATTTAAATGATAGGTCAAAGCTTTTGAGCACTTAAATTTTCTAAAATGGTTCTTAAAATACCATATAATAAGTAAATAGAACTTACCGAATAGTTTATTTTTCCAAGATCCGTTATTTTAAATGAAGTCAGGCAGTCTGAGTTCAAGGAGTCCTTAAAAAGTAGGAGTACTTGTTCAGTTCCACTTCCAATAAAGTCATCTATCAGTACTAAGCTAAGTTTTTCCCATTTAGCAGCAACCTAAAAGAAAGGGAGCATTATAGGAGGAGTAGACAAGAAAAAATCGAATGTGAAATAAATAAATTAAGTCCTTTTGTTTCATGTAGTTGTCATTTGTAAAACTCAATCTTATAAATGAGTAATGAAAATAGTAAAAACTAAAATAAAATAAAGATATTAGGGGATGAGGAAATATAAGAGTTATAAAAACTTTATAAATAGCAAGGTACTTAGATTTAATATTTTATTCAGGTTTGTCCAGGGACTGTCACATTCTTGATTTCTATATCAAAATTTTATTGTAATCTATTTATAAGTTCTAACACTTTTCATGACTAACCTTTGGAAATTCTAACATTTATCATGAGTCAAACTCTAGTGAAGATTCCTTCTCTCGCACAGCTAATTTAAGGATGACCTTCATTCCCATTAAGTCTTAGTGTATATGTATTTATGATCAGACAAATTACCCAAGGAATTCAGTTGCATTCTGTTGCATACCTGACAGCTGCAGTACTGTCAGGTAACCAGACAGTACTAGTAGACACCTTAAGAGCTCTTAATGGAAAATAACCTATAATAGAGTCAAGATGAGCTTAAAACCTTAAACCCTGATGTGGGTGTGGAGGGGAATACAGCTAGTATCGGGTACACAGGTGAGGGGTCCTAAAAGTGGGACAGCCAGAACCA
|
ATTTGATAATTTATTCTTAGAGTGTCAGCTTTTTGAAGCTTCTAAGAATGTTTTTAAAGGAGACTTCATCTATCATTTTCAGTTTTAATCAGGAGAGTTGGTCCTGCTTCATAAATTAAGCCTTTCATAAAGTCATGCTTTCATAAATTAAAGTACTTTGGCATCATTTCTAAATCAGTATAAAAATATACACTATTCTTTTTGACAGCTACATAGTATTCCATAGTTCAGGCACATCACAATTTACTTATCATACTCCTAATGATGTATGTTTAGATTTGGACCAATATTGTAGTTTATAAATACTACATAAACATTCTTGTAAAATCATCTTCATCCTTAGAAGAGATTTCTAGAAGTGAAACTGCAAGAGTAAAAAGACATAAGTAATTCATATTTTAGCAACTATAATAACTTTTCCTCTGAGAAGGTTGGGTCACTCACTATACATTCACAAAAATACTATAGAAGAATGTACTTTTATATTAAGAAAATTAATATTTTGTCAGGTATTACAATTTCTTTTTTCACAATTTGTCTTATTACATTTACTTTGTTCAGGGTACAAAAATTTTGAATAGATCAATGTCTTCATTCATGGTTCTGTCTGTTATGATGTTTATCTATTGTTCAAATTCATGTCTAATATGTGTTCAATAAGCATTTATTAAAGTGAACTCACTCTAATAATGAAATAGTTGCAAAATAATTTTAAAACAACCTGCAAAGTATAAATATTTACCACCTGGCCCTTTCCAGAAAAAGTTTTCCAACCCTAGGCAAAGAAGAAAAAGTTCAATAACACAGCAAGAAAAGAGACAAATCCAAAAGAGAGGATACAACTAGCGTGGCCTCCTCTTTAGCATAATTTTTAAAAGGGGGAAGGGGGAATTATTCTACATAAAAAGACCAATAAGAGATATAATCAAATGCGAGTAAAAACTTTGATAGATTGGATCCTGGAAAAAACAGTTATAAAAACATTTTTGTGATAACTAAATATATTTGAATATGGACAAGATAGCAAATAAGATTAAGGGATCATTAACAATTTTCTAACTTTGATAATGGTATTATAGTTGCATGAGGAGAATATCCTTATTTTTAGGAGATTCCTGCTGAAATACCTATGAGTGAAATATAACATGTGCAACTTTTAAATGGTTCTACAAAAATATATACACACATACACACACAAACACAAACACATGAGGCCAATAAGATTTTTAAAAGTAACAAGAATTGAATGTATTGGGGATACAGAGATAATCACTGTATTCCTGGAATGTTTCTGTATATTTGAAAATGCTATAAACAAAAAAGGCAGCTTACAAAAGAACATACATCTTATAATCACATTTCTATGTAATGCGTATATTCATTTAAAAATCTGCAAGAATATACAGGGCAAAGTGTTAAAATTGGTTATTGCAAAATAGTGGAATCACAGACAATCATTAGGTTTTTTTTATTTTGTTTTGTTTTGACATTTCTTTGCAAAGCCTCAGTATTTTACAGGGAATGTTCATTACCTTGGTACATTTGGGAAAAAAAATAAAAACTCTTTTGTGGAGCTTTTTATGGAAAATATGAGAGTAAACTGTTCATGTCTGGAATGCATTATGATTTATCATATTCGCTGCTACTCTAAAAAGATACTGTGGTATACTGATCCCAGAAAGAATGTGTTTTCAAAAGTGAGCTGCTTCTATTTTGTCTCATGAGGCTTATTAAATCTATATAGTCTTACTACAAAAAAGGTATGTTTAGATGATACATTTATAAGTAGTATCATAATATTTGTACAGAGGTGCCAAAAAGATAAAGATCCTTTGAAATACCATTTTTACCCAAGCACCAAGTTGCTTATACTTTAAGGACCTTTCTTTCAATGTTCTTTCCTTCATTTAGAATAACACTAATCGAAAAGCAAAAGAAGCAAACAGACACTAACTTTCAGTCCTGTTTCTAGAGGTGGAACCACCAGGTAACGATTCTCTTGTTTGTCTTCAAATAAGTCATCTTCATTGCAATCTGATGGTTCACTCTAATAAATAAATAAATAAATAAATAAATACACTAAGACTGAAATTTTGCAACAATTGAAAATTCACAAAACTAACAAAATACAATTAAAGTATATCCAGTCAGAACAGTTTCCCTAGTGTGTATAAAATACACACTATTTTATAAAAGGCAAACTATAGGCCAGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGCCCACAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGGGGCGGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCATGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAATAAACAAAGGCAAACTATATATTTTCCCCATCATCTTCTTGTAACTAGAAAAAAATTATTATGATTCCTACTACTACCACCTAACATTTATATACTGCTTTACAAAGTATCAGCTGGTTAGCTTTCTTTTTAAAGAGTAAACATTTTTCCATTTATTTATTTAAGAGACAGTGTCTTGCTCTGACACCCAGGTTGAAGTGCAACATAATAATCATAGCTCACTGCAGCCTTGAATTCCTGGGCTCTCATTAGCTTTTTAAAAAATCCTAAAATCCCATAACTGGAGAAAATTAAAATTATGCTAATTTTACAAATGAAAAAACTGAGGCTTAGAGAGATTTTGTATTGATCTGAAACTTCAGGGGCATAATTTCCCTTATGTCCAATATCTCAAGATATTGTGAGCTGTTACTTCCTTTACTAAAGCAATTTTGCTTCATTTTATTCCTTATTTAATCCAATATTATATTTATTGGTATAAAATGTGATTTTCAGAAGCAAAAATAAAGTTAATTTATAGTACTGCTGTCACTTAAGTGACCACCAAATGTACTACAATTCAAATTTATATCAAAAGCATGGTCAATTTGTATAACATTTGTTGAAAGGAGATTCAATGTATATATTTAAAAGATTCAATCTATATATTTTTAAAGTTCAAAATTTTAAGTATAAAACCACCAATATTTAAATGATAGGTCAAAGCTTTTGAGCACTTAAATTTTCTAAAATGGTTCTTAAAATACCATATAATAAGTAAATAGAACTTACCGAATAGTTTATTTTTCCAAGATCCGTTATTTTAAATGAAGTCAGGCAGTCTGAGTTCAAGGAGTCCTTAAAAAGTAGGAGTACTTGTTCAGTTCCACTTCCAATAAAGTCATCTATCAGTACTAAGCTAAGTTTTTCCCATTTAGCAGCAACCTAAAAGAAAGGGAGCATTATAGGAGGAGTAGACAAGAAAAAATCGAATGTGAAATAAATAAATTAAGTCCTTTTGTTTCATGTAGTTGTCATTTGTAAAACTCAATCTTATAAATGAGTAATGAAAATAGTAAAAACTAAAATAAAATAAAGATATTAGGGGATGAGGAAATATAAGAGTTATAAAAACTTTATAAATAGCAAGGTACTTAGATTTAATATTTTATTCAGGTTTGTCCAGGGACTGTCACATTCTTGATTTCTATATCAAAATTTTATTGTAATCTATTTATAAGTTCTAACACTTTTCATGACTAACCTTTGGAAATTCTAACATTTATCATGAGTCAAACTCTAGTGAAGATTCCTTCTCTCGCACAGCTAATTTAAGGATGACCTTCATTCCCATTAAGTCTTAGTGTATATGTATTTATGATCAGACAAATTACCCAAGGAATTCAGTTGCATTCTGTTGCATACCTGACAGCTGCAGTACTGTCAGGTAACCAGACAGTACTAGTAGACACCTTAAGAGCTCTTAATGGAAAATAACCTATAATAGAGTCAAGATGAGCTTAAAACCTTAAACCCTGATGTGGGTGTGGAGGGGAATACAGCTAGTATCGGGTACACAGGTGAGGGGTCCTAAAAGTGGGACAGCCAGA
|
benign
| 330,010 |
Considering the genetic mutation at chromosome X, position 14857956, impacting FANCB (FA complementation group B): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
ATTTGATAATTTATTCTTAGAGTGTCAGCTTTTTGAAGCTTCTAAGAATGTTTTTAAAGGAGACTTCATCTATCATTTTCAGTTTTAATCAGGAGAGTTGGTCCTGCTTCATAAATTAAGCCTTTCATAAAGTCATGCTTTCATAAATTAAAGTACTTTGGCATCATTTCTAAATCAGTATAAAAATATACACTATTCTTTTTGACAGCTACATAGTATTCCATAGTTCAGGCACATCACAATTTACTTATCATACTCCTAATGATGTATGTTTAGATTTGGACCAATATTGTAGTTTATAAATACTACATAAACATTCTTGTAAAATCATCTTCATCCTTAGAAGAGATTTCTAGAAGTGAAACTGCAAGAGTAAAAAGACATAAGTAATTCATATTTTAGCAACTATAATAACTTTTCCTCTGAGAAGGTTGGGTCACTCACTATACATTCACAAAAATACTATAGAAGAATGTACTTTTATATTAAGAAAATTAATATTTTGTCAGGTATTACAATTTCTTTTTTCACAATTTGTCTTATTACATTTACTTTGTTCAGGGTACAAAAATTTTGAATAGATCAATGTCTTCATTCATGGTTCTGTCTGTTATGATGTTTATCTATTGTTCAAATTCATGTCTAATATGTGTTCAATAAGCATTTATTAAAGTGAACTCACTCTAATAATGAAATAGTTGCAAAATAATTTTAAAACAACCTGCAAAGTATAAATATTTACCACCTGGCCCTTTCCAGAAAAAGTTTTCCAACCCTAGGCAAAGAAGAAAAAGTTCAATAACACAGCAAGAAAAGAGACAAATCCAAAAGAGAGGATACAACTAGCGTGGCCTCCTCTTTAGCATAATTTTTAAAAGGGGGAAGGGGGAATTATTCTACATAAAAAGACCAATAAGAGATATAATCAAATGCGAGTAAAAACTTTGATAGATTGGATCCTGGAAAAAACAGTTATAAAAACATTTTTGTGATAACTAAATATATTTGAATATGGACAAGATAGCAAATAAGATTAAGGGATCATTAACAATTTTCTAACTTTGATAATGGTATTATAGTTGCATGAGGAGAATATCCTTATTTTTAGGAGATTCCTGCTGAAATACCTATGAGTGAAATATAACATGTGCAACTTTTAAATGGTTCTACAAAAATATATACACACATACACACACAAACACAAACACATGAGGCCAATAAGATTTTTAAAAGTAACAAGAATTGAATGTATTGGGGATACAGAGATAATCACTGTATTCCTGGAATGTTTCTGTATATTTGAAAATGCTATAAACAAAAAAGGCAGCTTACAAAAGAACATACATCTTATAATCACATTTCTATGTAATGCGTATATTCATTTAAAAATCTGCAAGAATATACAGGGCAAAGTGTTAAAATTGGTTATTGCAAAATAGTGGAATCACAGACAATCATTAGGTTTTTTTTATTTTGTTTTGTTTTGACATTTCTTTGCAAAGCCTCAGTATTTTACAGGGAATGTTCATTACCTTGGTACATTTGGGAAAAAAAATAAAAACTCTTTTGTGGAGCTTTTTATGGAAAATATGAGAGTAAACTGTTCATGTCTGGAATGCATTATGATTTATCATATTCGCTGCTACTCTAAAAAGATACTGTGGTATACTGATCCCAGAAAGAATGTGTTTTCAAAAGTGAGCTGCTTCTATTTTGTCTCATGAGGCTTATTAAATCTATATAGTCTTACTACAAAAAAGGTATGTTTAGATGATACATTTATAAGTAGTATCATAATATTTGTACAGAGGTGCCAAAAAGATAAAGATCCTTTGAAATACCATTTTTACCCAAGCACCAAGTTGCTTATACTTTAAGGACCTTTCTTTCAATGTTCTTTCCTTCATTTAGAATAACACTAATCGAAAAGCAAAAGAAGCAAACAGACACTAACTTTCAGTCCTGTTTCTAGAGGTGGAACCACCAGGTAACGATTCTCTTGTTTGTCTTCAAATAAGTCATCTTCATTGCAATCTGATGGTTCACTCTAATAAATAAATAAATAAATAAATACACTAAGACTGAAATTTTGCAACAATTGAAAATTCACAAAACTAACAAAATACAATTAAAGTATATCCAGTCAGAACAGTTTCCCTAGTGTGTATAAAATACACACTATTTTATAAAAGGCAAACTATAGGCCAGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGCCCACAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGGGGCGGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCATGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAATAAACAAAGGCAAACTATATATTTTCCCCATCATCTTCTTGTAACTAGAAAAAAATTATTATGATTCCTACTACTACCACCTAACATTTATATACTGCTTTACAAAGTATCAGCTGGTTAGCTTTCTTTTTAAAGAGTAAACATTTTTCCATTTATTTATTTAAGAGACAGTGTCTTGCTCTGACACCCAGGTTGAAGTGCAACATAATAATCATAGCTCACTGCAGCCTTGAATTCCTGGGCTCTCATTAGCTTTTTAAAAAATCCTAAAATCCCATAACTGGAGAAAATTAAAATTATGCTAATTTTACAAATGAAAAAACTGAGGCTTAGAGAGATTTTGTATTGATCTGAAACTTCAGGGGCATAATTTCCCTTATGTCCAATATCTCAAGATATTGTGAGCTGTTACTTCCTTTACTAAAGCAATTTTGCTTCATTTTATTCCTTATTTAATCCAATATTATATTTATTGGTATAAAATGTGATTTTCAGAAGCAAAAATAAAGTTAATTTATAGTACTGCTGTCACTTAAGTGACCACCAAATGTACTACAATTCAAATTTATATCAAAAGCATGGTCAATTTGTATAACATTTGTTGAAAGGAGATTCAATGTATATATTTAAAAGATTCAATCTATATATTTTTAAAGTTCAAAATTTTAAGTATAAAACCACCAATATTTAAATGATAGGTCAAAGCTTTTGAGCACTTAAATTTTCTAAAATGGTTCTTAAAATACCATATAATAAGTAAATAGAACTTACCGAATAGTTTATTTTTCCAAGATCCGTTATTTTAAATGAAGTCAGGCAGTCTGAGTTCAAGGAGTCCTTAAAAAGTAGGAGTACTTGTTCAGTTCCACTTCCAATAAAGTCATCTATCAGTACTAAGCTAAGTTTTTCCCATTTAGCAGCAACCTAAAAGAAAGGGAGCATTATAGGAGGAGTAGACAAGAAAAAATCGAATGTGAAATAAATAAATTAAGTCCTTTTGTTTCATGTAGTTGTCATTTGTAAAACTCAATCTTATAAATGAGTAATGAAAATAGTAAAAACTAAAATAAAATAAAGATATTAGGGGATGAGGAAATATAAGAGTTATAAAAACTTTATAAATAGCAAGGTACTTAGATTTAATATTTTATTCAGGTTTGTCCAGGGACTGTCACATTCTTGATTTCTATATCAAAATTTTATTGTAATCTATTTATAAGTTCTAACACTTTTCATGACTAACCTTTGGAAATTCTAACATTTATCATGAGTCAAACTCTAGTGAAGATTCCTTCTCTCGCACAGCTAATTTAAGGATGACCTTCATTCCCATTAAGTCTTAGTGTATATGTATTTATGATCAGACAAATTACCCAAGGAATTCAGTTGCATTCTGTTGCATACCTGACAGCTGCAGTACTGTCAGGTAACCAGACAGTACTAGTAGACACCTTAAGAGCTCTTAATGGAAAATAACCTATAATAGAGTCAAGATGAGCTTAAAACCTTAAACCCTGATGTGGGTGTGGAGGGGAATACAGCTAGTATCGGGTACACAGGTGAGGGGTCCTAAAAGTGGGACAGCCAGAACCA
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ATTTGATAATTTATTCTTAGAGTGTCAGCTTTTTGAAGCTTCTAAGAATGTTTTTAAAGGAGACTTCATCTATCATTTTCAGTTTTAATCAGGAGAGTTGGTCCTGCTTCATAAATTAAGCCTTTCATAAAGTCATGCTTTCATAAATTAAAGTACTTTGGCATCATTTCTAAATCAGTATAAAAATATACACTATTCTTTTTGACAGCTACATAGTATTCCATAGTTCAGGCACATCACAATTTACTTATCATACTCCTAATGATGTATGTTTAGATTTGGACCAATATTGTAGTTTATAAATACTACATAAACATTCTTGTAAAATCATCTTCATCCTTAGAAGAGATTTCTAGAAGTGAAACTGCAAGAGTAAAAAGACATAAGTAATTCATATTTTAGCAACTATAATAACTTTTCCTCTGAGAAGGTTGGGTCACTCACTATACATTCACAAAAATACTATAGAAGAATGTACTTTTATATTAAGAAAATTAATATTTTGTCAGGTATTACAATTTCTTTTTTCACAATTTGTCTTATTACATTTACTTTGTTCAGGGTACAAAAATTTTGAATAGATCAATGTCTTCATTCATGGTTCTGTCTGTTATGATGTTTATCTATTGTTCAAATTCATGTCTAATATGTGTTCAATAAGCATTTATTAAAGTGAACTCACTCTAATAATGAAATAGTTGCAAAATAATTTTAAAACAACCTGCAAAGTATAAATATTTACCACCTGGCCCTTTCCAGAAAAAGTTTTCCAACCCTAGGCAAAGAAGAAAAAGTTCAATAACACAGCAAGAAAAGAGACAAATCCAAAAGAGAGGATACAACTAGCGTGGCCTCCTCTTTAGCATAATTTTTAAAAGGGGGAAGGGGGAATTATTCTACATAAAAAGACCAATAAGAGATATAATCAAATGCGAGTAAAAACTTTGATAGATTGGATCCTGGAAAAAACAGTTATAAAAACATTTTTGTGATAACTAAATATATTTGAATATGGACAAGATAGCAAATAAGATTAAGGGATCATTAACAATTTTCTAACTTTGATAATGGTATTATAGTTGCATGAGGAGAATATCCTTATTTTTAGGAGATTCCTGCTGAAATACCTATGAGTGAAATATAACATGTGCAACTTTTAAATGGTTCTACAAAAATATATACACACATACACACACAAACACAAACACATGAGGCCAATAAGATTTTTAAAAGTAACAAGAATTGAATGTATTGGGGATACAGAGATAATCACTGTATTCCTGGAATGTTTCTGTATATTTGAAAATGCTATAAACAAAAAAGGCAGCTTACAAAAGAACATACATCTTATAATCACATTTCTATGTAATGCGTATATTCATTTAAAAATCTGCAAGAATATACAGGGCAAAGTGTTAAAATTGGTTATTGCAAAATAGTGGAATCACAGACAATCATTAGGTTTTTTTTATTTTGTTTTGTTTTGACATTTCTTTGCAAAGCCTCAGTATTTTACAGGGAATGTTCATTACCTTGGTACATTTGGGAAAAAAAATAAAAACTCTTTTGTGGAGCTTTTTATGGAAAATATGAGAGTAAACTGTTCATGTCTGGAATGCATTATGATTTATCATATTCGCTGCTACTCTAAAAAGATACTGTGGTATACTGATCCCAGAAAGAATGTGTTTTCAAAAGTGAGCTGCTTCTATTTTGTCTCATGAGGCTTATTAAATCTATATAGTCTTACTACAAAAAAGGTATGTTTAGATGATACATTTATAAGTAGTATCATAATATTTGTACAGAGGTGCCAAAAAGATAAAGATCCTTTGAAATACCATTTTTACCCAAGCACCAAGTTGCTTATACTTTAAGGACCTTTCTTTCAATGTTCTTTCCTTCATTTAGAATAACACTAATCGAAAAGCAAAAGAAGCAAACAGACACTAACTTTCAGTCCTGTTTCTAGAGGTGGAACCACCAGGTAACGATTCTCTTGTTTGTCTTCAAATAAGTCATCTTCATTGCAATCTGATGGTTCACTCTAATAAATAAATAAATACACTAAGACTGAAATTTTGCAACAATTGAAAATTCACAAAACTAACAAAATACAATTAAAGTATATCCAGTCAGAACAGTTTCCCTAGTGTGTATAAAATACACACTATTTTATAAAAGGCAAACTATAGGCCAGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGCCCACAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGGGGCGGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCATGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAATAAACAAAGGCAAACTATATATTTTCCCCATCATCTTCTTGTAACTAGAAAAAAATTATTATGATTCCTACTACTACCACCTAACATTTATATACTGCTTTACAAAGTATCAGCTGGTTAGCTTTCTTTTTAAAGAGTAAACATTTTTCCATTTATTTATTTAAGAGACAGTGTCTTGCTCTGACACCCAGGTTGAAGTGCAACATAATAATCATAGCTCACTGCAGCCTTGAATTCCTGGGCTCTCATTAGCTTTTTAAAAAATCCTAAAATCCCATAACTGGAGAAAATTAAAATTATGCTAATTTTACAAATGAAAAAACTGAGGCTTAGAGAGATTTTGTATTGATCTGAAACTTCAGGGGCATAATTTCCCTTATGTCCAATATCTCAAGATATTGTGAGCTGTTACTTCCTTTACTAAAGCAATTTTGCTTCATTTTATTCCTTATTTAATCCAATATTATATTTATTGGTATAAAATGTGATTTTCAGAAGCAAAAATAAAGTTAATTTATAGTACTGCTGTCACTTAAGTGACCACCAAATGTACTACAATTCAAATTTATATCAAAAGCATGGTCAATTTGTATAACATTTGTTGAAAGGAGATTCAATGTATATATTTAAAAGATTCAATCTATATATTTTTAAAGTTCAAAATTTTAAGTATAAAACCACCAATATTTAAATGATAGGTCAAAGCTTTTGAGCACTTAAATTTTCTAAAATGGTTCTTAAAATACCATATAATAAGTAAATAGAACTTACCGAATAGTTTATTTTTCCAAGATCCGTTATTTTAAATGAAGTCAGGCAGTCTGAGTTCAAGGAGTCCTTAAAAAGTAGGAGTACTTGTTCAGTTCCACTTCCAATAAAGTCATCTATCAGTACTAAGCTAAGTTTTTCCCATTTAGCAGCAACCTAAAAGAAAGGGAGCATTATAGGAGGAGTAGACAAGAAAAAATCGAATGTGAAATAAATAAATTAAGTCCTTTTGTTTCATGTAGTTGTCATTTGTAAAACTCAATCTTATAAATGAGTAATGAAAATAGTAAAAACTAAAATAAAATAAAGATATTAGGGGATGAGGAAATATAAGAGTTATAAAAACTTTATAAATAGCAAGGTACTTAGATTTAATATTTTATTCAGGTTTGTCCAGGGACTGTCACATTCTTGATTTCTATATCAAAATTTTATTGTAATCTATTTATAAGTTCTAACACTTTTCATGACTAACCTTTGGAAATTCTAACATTTATCATGAGTCAAACTCTAGTGAAGATTCCTTCTCTCGCACAGCTAATTTAAGGATGACCTTCATTCCCATTAAGTCTTAGTGTATATGTATTTATGATCAGACAAATTACCCAAGGAATTCAGTTGCATTCTGTTGCATACCTGACAGCTGCAGTACTGTCAGGTAACCAGACAGTACTAGTAGACACCTTAAGAGCTCTTAATGGAAAATAACCTATAATAGAGTCAAGATGAGCTTAAAACCTTAAACCCTGATGTGGGTGTGGAGGGGAATACAGCTAGTATCGGGTACACAGGTGAGGGGTCCTAAAAGTGGGACAGCCAGAACCANNNNNNNN
|
benign
| 330,011 |
A mutation at chromosome position 14864659 on chromosome X in gene FANCB (FA complementation group B): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
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pathogenic; ['FANCB-related_disorder', 'Fanconi_anemia']
|
TAAGTGTAAGTAACTGATGACAGCCCTGGCTTTTGTCTAACAGTAATATAACAGAGTAATAGCTACTACTAACTGAGTTCCTCCTATGTGTCAAGCTCTGTGCAAGACACTTTACAATGTCATTTGACTTAATTCTCCCCTCTCAGAGTCAGAATGATCCCAAATTTCATAAAGGAGGAAAATGAGTTCACAAGAATTACATTCCTTAAGGTAACACTGGTAAGTGGCTCAGTTGGGATTCAAACCCAGGGTACGTGTGTTCTTTCTATTATATTACCTTGACTACAGTAAAACACTATAGGGTATACCAGATGTTTTTCCCCTACCATTTCTTTAAAGGAAAAGAGAATGGAAAAAGACAATTCCAAATAACTTTCAAATAAATGTATAATGCGCTTTTAAAAGATTGCTTTCAAGATAAAATAGGATAGCTTTCAAATTATTTTCCTTTTGCATTCTCTATGTATTATAGAGGATACATACGTATTACAGAAATTCAAAATAATCCCTATTAATATAAAAGTACTTGGTAAGGCAAAGCCTGATTCATAATTCCAACTTGACATTCCTCCCCCCACACAAACAATAATGATTCACATTTAAAAATGAATTTCAAACTTTCTAAAACATTTAACAATATTCCACATAGAGGTGATAATATAATGATAAAAATTTTCATTGAGCTTCTAATTAAATGGATAGGGCACACAAAATAAGGCAATATCTGCTTTTCTCTCCTAAGTAGCACAAAAACTAAAGTTGTATAGTGTACTACTTTTGGAAGAGACATTTCTAACTAGTAATGATAATTTGTCTTAATTCATAAACACTTCAAATCACATAACTGAATACATTTTCAACCAGGAGGATGCAACATTACCCAAAAATACAGAGTCAGAGAAATATTATTGGTGGAGACACCCAGTTACAAAACTCTAATTTCCTATTGGTTTTCTGTGCCTTTTTACCTGTTACTTAACACTCAATACCAGTGAATATTTTAGAACAATTTCCAAACTTAAAAAAGTGAATACTTGCTCAAAGGTCAGTTCTGCATTTCAAAATATAACATAATAAAAATCTCTGAGTAAGTTTTTAGAAAAAGTAATGCTTACCACTTGTCTATGGAGAACAATTATTTGTCTCTCCAGATTTCAAGGAATTTCTCTATATTTCACTTTCAGAAATGAATCAGAGACAACAAGTAAATTTAAATAGATAATTATAAATGTTTAAAAAGTTGGCCGGGCATGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGACCACTTGAAGCCAGGAGTTTGAAACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCGCTTGAACCTGGGAGGTAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGATGACAAAGCGAGACTCTGTCTCAAAAAAAATATAAAAAAATAAAAATAAAAAGATGAAAAACTGATTTGAATTTTCCAGGAAGGCTTATCTATCTAGTCAAATCACTAATAATCTTATTGTAAGTGAAAATGCACATCTACTATCATATTAATAAAAATTAGAAAGTTATAATAGAAAAATAAATACATAATTCTAGTTACATATGTATTTACACATTTCCAAACAACTCAAAGGCTTTATGACTCAAAATGGCAAGACAAAAAAAACACCATCAGGTTGTACTCAGATAACCTTAAGAAAAAAGAACAATGTAATATTTATCATTTCATGTACAGAACTGAAAATTGACTTAGACAATAAGACTCCAGAATGAACTCTATGAACTATACAAATGTTTAAAAGGTCTGAGACCACCAACTGAATTATTATTACAATAAGTGTTGTACCTGAAAGCTCTCTTTCCATACAGCACAAGCATTATTGGATATAAAGGATACAACGAAAAAGAGGTTTCCTCCACCTGAATCCATAAGTTGAACTGCACAAGGATCTCCAAATGGAAGCTGGCACACATTTTTAGGAGTTCCATTCTGAAATGAAATCAGCTGATTCTTTCGAGTAAGGGCAATGAGAGATATTCTTAACTGGTTTTTGATGATCTCAGTTGCACAAATATGTACATAAGTCACCACACTGCTGTAAGCAGGAGGAATAATGTATATATCACTTAATACTTCTTGACTTTCAAGAGAATATACACAAAATTTGGTATTCCAAATTGCATAATCTGATTTTGAAGGCTCTTGAGTACATTCTTCCTCAGATAAACAACATTCCTTTAGTCCCAATAAAACCATACCTAAATTTTCAATCTCCCCTGCCCACTGAATAGAGGAAAAGTTACCTGACACACTAACAACTTTGCCAGTTTGAGAAGAGATAAAGAAGAATGCTTTGACATGCCTCCATAAAATTAAAGGGCCATTAAGGACCCTTAGGCCATCCTTCATCTCATAGCCTAGTTTAAAACTCAAACGCATTTCAAATTTATTAGTACTGTGAAGGATTAGTAAAAAATATTCAAAAACATTATTCTTTTTATTTTTTTCTATCACAATGTAAGGGAGGTTAATTCCAGTTCTGAAATCTGACACACAGTTGCAACACATGATTTTTAAATGAGAGTTTTCTTCCTTTATGGTAAAAAATCCAGTGGACTTCTGAACAAATACTTTTGTTCCTCTGTCAAATACCATTCTTCTGACATGTAATATGGGTGTTTTTGTAGGCTCTTTATCTGCAAAATTTCCTTTAGACAACTGGAAAACAAGGACTTCCCCATTATAACACAAGAGCCTTTCTTGTTCGTTAGATGACATTGCTTGTTTGCTAGTCATTCCACAATATCAAGTCTTTGTGCTGATCTAATTTTCAAATGCAAATTGATTCCAGTTGATGTTTCTAAACCTAAAAAAGAAATGAGGAAAAACTGCCATGAAGTAGGAAGGGTTGAAAAGAAAACACGTTTCTGTTAGAGAACTACAACATAGGTAACTACACATTTTATTAAGTAAACATTTTAAGCTTTTTATACTATTTTGACAATATCATACTTATAAAAAAAATTCTAAATATTATTTCTGTAGACGCTTTAAAAAAGTTTGCTAAGAATTCAAATAACCATATCAAAAAAGATAACTGAATGTGTCAACGGCATATATTTAAAGCTTTAGATGCTCTATTAAAAGTGACTTCAGATATTTGTTCTGGCTCAGAAAATTGCTTAAGGGTTATACTTCTCTGTTTCAAACCTAACAACTCTAATGTGGTTTCCCACTCTCTGCCTTAGCCCCTTTAGAATGACAATTCAATTAGGGGTTTACTTGTCTTGCAACTCACTCTCCCCAAATACGTTGATTTTCAATTATACTTCTCCCACAGCCCAGGCAATTGGGCTTCTGCTTTCTAGAGACAGGAGCCTATACAGGCTCTAAGACAAAAAAGAAACCCCAGGAATAAAAATAGGAGATGCTGTAACAAGGCTTTAAAAAATCTCCATAGGATTAATAAAAATAAATCTTAGTTTACAAAGGCAATGCATTTGTATGCATTTGTATGACCCAACAAAGTCACTATTCTTATTCAAATTAGAAAAAATAGAGGATTAACATAATTTATTACAATGAACACAAGAATTAAATAATATCAATCATTCAAGCTTATTATATGGCAGGTACAATACATGCATTATTTAATTCTAATAACTATTGTCTTAAAATAAGTACCCTTATTATTCTACCTTTTAAGCAAGAAAGCCTTATTTTAAAGAAGATAAGAAAATTTTCCAAGGTTACAACACTAATCCACAGTTAACAGAAATCAGCAATGGTGCTAGTTTGGAAAAGGGGCCTTCTGACTCTGGAGTCTACACTTTTAACTACCACTCTGCCCTGGCATGCATTCCCTTATTCTGAACAAACTCATTGTAAGAAAGGTAACTTGAGAGAATTAGTAAAATAAAGGATAAAAGAATATCCTCAATATTGAACACATGTATAAAAAAAAGTTGTTGATATCTCTTTATTCAGTCTTC
|
TAAGTGTAAGTAACTGATGACAGCCCTGGCTTTTGTCTAACAGTAATATAACAGAGTAATAGCTACTACTAACTGAGTTCCTCCTATGTGTCAAGCTCTGTGCAAGACACTTTACAATGTCATTTGACTTAATTCTCCCCTCTCAGAGTCAGAATGATCCCAAATTTCATAAAGGAGGAAAATGAGTTCACAAGAATTACATTCCTTAAGGTAACACTGGTAAGTGGCTCAGTTGGGATTCAAACCCAGGGTACGTGTGTTCTTTCTATTATATTACCTTGACTACAGTAAAACACTATAGGGTATACCAGATGTTTTTCCCCTACCATTTCTTTAAAGGAAAAGAGAATGGAAAAAGACAATTCCAAATAACTTTCAAATAAATGTATAATGCGCTTTTAAAAGATTGCTTTCAAGATAAAATAGGATAGCTTTCAAATTATTTTCCTTTTGCATTCTCTATGTATTATAGAGGATACATACGTATTACAGAAATTCAAAATAATCCCTATTAATATAAAAGTACTTGGTAAGGCAAAGCCTGATTCATAATTCCAACTTGACATTCCTCCCCCCACACAAACAATAATGATTCACATTTAAAAATGAATTTCAAACTTTCTAAAACATTTAACAATATTCCACATAGAGGTGATAATATAATGATAAAAATTTTCATTGAGCTTCTAATTAAATGGATAGGGCACACAAAATAAGGCAATATCTGCTTTTCTCTCCTAAGTAGCACAAAAACTAAAGTTGTATAGTGTACTACTTTTGGAAGAGACATTTCTAACTAGTAATGATAATTTGTCTTAATTCATAAACACTTCAAATCACATAACTGAATACATTTTCAACCAGGAGGATGCAACATTACCCAAAAATACAGAGTCAGAGAAATATTATTGGTGGAGACACCCAGTTACAAAACTCTAATTTCCTATTGGTTTTCTGTGCCTTTTTACCTGTTACTTAACACTCAATACCAGTGAATATTTTAGAACAATTTCCAAACTTAAAAAAGTGAATACTTGCTCAAAGGTCAGTTCTGCATTTCAAAATATAACATAATAAAAATCTCTGAGTAAGTTTTTAGAAAAAGTAATGCTTACCACTTGTCTATGGAGAACAATTATTTGTCTCTCCAGATTTCAAGGAATTTCTCTATATTTCACTTTCAGAAATGAATCAGAGACAACAAGTAAATTTAAATAGATAATTATAAATGTTTAAAAAGTTGGCCGGGCATGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGACCACTTGAAGCCAGGAGTTTGAAACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCGCTTGAACCTGGGAGGTAGAGGCTGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGATGACAAAGCGAGACTCTGTCTCAAAAAAAATATAAAAAAATAAAAATAAAAAGATGAAAAACTGATTTGAATTTTCCAGGAAGGCTTATCTATCTAGTCAAATCACTAATAATCTTATTGTAAGTGAAAATGCACATCTACTATCATATTAATAAAAATTAGAAAGTTATAATAGAAAAATAAATACATAATTCTAGTTACATATGTATTTACACATTTCCAAACAACTCAAAGGCTTTATGACTCAAAATGGCAAGACAAAAAAAACACCATCAGGTTGTACTCAGATAACCTTAAGAAAAAAGAACAATGTAATATTTATCATTTCATGTACAGAACTGAAAATTGACTTAGACAATAAGACTCCAGAATGAACTCTATGAACTATACAAATGTTTAAAAGGTCTGAGACCACCAACTGAATTATTATTACAATAAGTGTTGTACCTGAAAGCTCTCTTTCCATACAGCACAAGCATTATTGGATATAAAGGATACAACGAAAAAGAGGTTTCCTCCACCTGAATCCATAAGTTGAACTGCACAAGATCTCCAAATGGAAGCTGGCACACATTTTTAGGAGTTCCATTCTGAAATGAAATCAGCTGATTCTTTCGAGTAAGGGCAATGAGAGATATTCTTAACTGGTTTTTGATGATCTCAGTTGCACAAATATGTACATAAGTCACCACACTGCTGTAAGCAGGAGGAATAATGTATATATCACTTAATACTTCTTGACTTTCAAGAGAATATACACAAAATTTGGTATTCCAAATTGCATAATCTGATTTTGAAGGCTCTTGAGTACATTCTTCCTCAGATAAACAACATTCCTTTAGTCCCAATAAAACCATACCTAAATTTTCAATCTCCCCTGCCCACTGAATAGAGGAAAAGTTACCTGACACACTAACAACTTTGCCAGTTTGAGAAGAGATAAAGAAGAATGCTTTGACATGCCTCCATAAAATTAAAGGGCCATTAAGGACCCTTAGGCCATCCTTCATCTCATAGCCTAGTTTAAAACTCAAACGCATTTCAAATTTATTAGTACTGTGAAGGATTAGTAAAAAATATTCAAAAACATTATTCTTTTTATTTTTTTCTATCACAATGTAAGGGAGGTTAATTCCAGTTCTGAAATCTGACACACAGTTGCAACACATGATTTTTAAATGAGAGTTTTCTTCCTTTATGGTAAAAAATCCAGTGGACTTCTGAACAAATACTTTTGTTCCTCTGTCAAATACCATTCTTCTGACATGTAATATGGGTGTTTTTGTAGGCTCTTTATCTGCAAAATTTCCTTTAGACAACTGGAAAACAAGGACTTCCCCATTATAACACAAGAGCCTTTCTTGTTCGTTAGATGACATTGCTTGTTTGCTAGTCATTCCACAATATCAAGTCTTTGTGCTGATCTAATTTTCAAATGCAAATTGATTCCAGTTGATGTTTCTAAACCTAAAAAAGAAATGAGGAAAAACTGCCATGAAGTAGGAAGGGTTGAAAAGAAAACACGTTTCTGTTAGAGAACTACAACATAGGTAACTACACATTTTATTAAGTAAACATTTTAAGCTTTTTATACTATTTTGACAATATCATACTTATAAAAAAAATTCTAAATATTATTTCTGTAGACGCTTTAAAAAAGTTTGCTAAGAATTCAAATAACCATATCAAAAAAGATAACTGAATGTGTCAACGGCATATATTTAAAGCTTTAGATGCTCTATTAAAAGTGACTTCAGATATTTGTTCTGGCTCAGAAAATTGCTTAAGGGTTATACTTCTCTGTTTCAAACCTAACAACTCTAATGTGGTTTCCCACTCTCTGCCTTAGCCCCTTTAGAATGACAATTCAATTAGGGGTTTACTTGTCTTGCAACTCACTCTCCCCAAATACGTTGATTTTCAATTATACTTCTCCCACAGCCCAGGCAATTGGGCTTCTGCTTTCTAGAGACAGGAGCCTATACAGGCTCTAAGACAAAAAAGAAACCCCAGGAATAAAAATAGGAGATGCTGTAACAAGGCTTTAAAAAATCTCCATAGGATTAATAAAAATAAATCTTAGTTTACAAAGGCAATGCATTTGTATGCATTTGTATGACCCAACAAAGTCACTATTCTTATTCAAATTAGAAAAAATAGAGGATTAACATAATTTATTACAATGAACACAAGAATTAAATAATATCAATCATTCAAGCTTATTATATGGCAGGTACAATACATGCATTATTTAATTCTAATAACTATTGTCTTAAAATAAGTACCCTTATTATTCTACCTTTTAAGCAAGAAAGCCTTATTTTAAAGAAGATAAGAAAATTTTCCAAGGTTACAACACTAATCCACAGTTAACAGAAATCAGCAATGGTGCTAGTTTGGAAAAGGGGCCTTCTGACTCTGGAGTCTACACTTTTAACTACCACTCTGCCCTGGCATGCATTCCCTTATTCTGAACAAACTCATTGTAAGAAAGGTAACTTGAGAGAATTAGTAAAATAAAGGATAAAAGAATATCCTCAATATTGAACACATGTATAAAAAAAAGTTGTTGATATCTCTTTATTCAGTCTTCN
|
pathogenic
| 330,016 |
Is the variant located on chromosome X at position 17375961, gene NHS (NHS actin remodeling regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
CTCCCTTCATACATACACATCTTTATTATCATCATTCTTCTTCTTGTTGTTACTGAAACATTTATGTGTACTTTGCAGACATCATGGCCCTTTACCCCCAAAGCCTCAGCCTGGATCTTTTATGAACAAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTTATTGTTGCCATAAAACATATTTTTTCCATGTTCTCTTTAGAAACACGAAAAGAGGCTGCATTCCCAAGATCTGGCTTGTGGCTTTAAAATAAAAAATATTTTTACAGTATACTTTTTGGAGGCATGAAAGCACGTGTTTTATTAACATTTCCCAAACTCTTTTTACTGACGGCATACAGCCTGCAGCCTGCTGCAATCGAAAATGCATGCCTTTTTAGAAATTATACCTTTCAGTTAACTGAAGGGGAAAACTTTCCCTTCTTCTGTAAATCATCATCTCTCTGATGGAGAACTTTAAAAATCCTGTGTATGATCAGCACAGTAGGGTGACGAGGAGGTAATGCCGTTTATCTCACCCAACGTGCAATGAGTTTCGTAAGCAGTTTTCTGGGGATTTTGCTCATTGGTGGTTTGGGTCTCATTCACGATATTCTATAGAGCCCGTGCCCAAAACAGGGGGCCACGTGATGCCTGGGAAGGGGTATAAACAGCACTCTGGCTGCTCTGGCCACATGGAGATGCGCCTACGCCCTTTGCCCTCCCCAGTTGTCTCCTTGCGTTCATAGAGCCCGGGGATCTCCAAGGAGCAGCCCAGTTTTCCCTGTAAGAACCCAAAGGTCTTGTACAGAGCTGGAATTCGGCGAAAAACTTGCTCCAACACGCCAAATCTGCCGCATCCTCAATACCCCACCCTCTTCCCTCTGCGCTTACTGCCCACACCCCTACTCCCAACTTGAGGACTCCCCGCCCCCACCACGCTGACAGTCTCAATTCCAACCCCTTGGATGTGAGGAAGTGTCTTTGCGCCTGAACGCGCCCAGCACGGCGAGGCCACCAGTGACTCCCAGCGGCCGCACAGGGCGCTGCGCCCCCCTCGCCCCGGCCTCCCCCGCCCTGCGTCCGCCCCGTCACCCCCGCGCGGCCTCCTGCGCCCGGGCTGGAGGCAGATTCCTCTCTCCGGGTTTTCAGAGCGCCTTTCCGAAACCTCCTCCCCGCCCAGCCAGGGAGAGAGATCCCGGGCGCAATCGCTCCCCGGAGCGGCCGAGGGGCGCGCGGGGAGAGGCCTGCGCCGGGGTACTTTCAAACTGAGGCGCGCGCACACACTCACACCCACCCACCCACTCACCCACACACACACAGACACACGCACGCCCATTTATATAGGCGGCGGCGACGGCAGTGGCCGGGGTGGCGACGGCGAGCACAGAAACGATGGAGTTGAGCCAGTCGACCCTGGTTGGAAGCAAGTGAGAAGAGACCAGGCGCACCCCTAAATTTCTGTGCGGAGCGCTTGTCATCCTCCCCAGGGAACGGTGCACCCAAAGGAGGACTGGCTGGACTGATTTGCTAGGGAGAGGGCGGGGAAGAGGAGGCAAGGTGAGCAGAGAAGCCCCCTGCGTATCCGGACTGCCAGATCGCGCTTTTGCCGGACTCCTGCCCCCTCCCTGCTCAGGTGGGCGCGCCCGGTCTCCAGCTCACAGGGGCGCTTGGAGGAGACCAGAAAGTCGCCGCCTGGCTGCGCGGGATGCCTTTCGCCAAGCGGATCGTGGAGCCGCAATGGCTGTGCAGGCAGCGGCGCCCTGCGCCCGGCCCAGCAGTGGACGCGAGCGGAGGCAGCGCTGAGCCGCCGCCGCCCTTGCAGCCGCCGGGCCGGAGGGACCTGGACGAGGTCGAGGCGCCAGGGCCAGAGGAGCCAGCCCGCGCCGTCCCTGCACCTTCAGGGCTGCCACCGCCGCCGCCGCCACTGCCCGCGCCGGCCGACCAGACTCAGCCGCCGCACGGAGAGGCGTCCGTGGCTGGCGAGGAGAGCACGGCGGGGATCCCGGAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGGCGGCGGCGGCGGCCGTGCTGCTCATGCTGGACCTATGCGCGGTCAGCAACGCCGCTCTGGCCCGTGTCCTCCGGCAGCTCTCGGACGTGGCCCGGCACGCTTGCAGCCTCTTCCAGGAGCTCGAGAGCGACATCCAGCTCACCCACCGCCGCGTCTGGGCGCTGCAGGGCAAGCTCGGCGGCGTGCAGCGCGTCCTCAGCACGCTTGACCCTAAGCAGGAGGCAGTGCGTGAGTACCCGCGCCGTCCGCCCGCCAGGCTATGGGTTTCTGCGCCGCACCCTCGCGCCCTCCCCAGCAGCGGCAATCCCAGCCCCGCGGCGCCGCTCCGGTTGCAGCTTGCACCTTACTACTCTCGCCTTCCCACCCTTCCCATCCCCTGGGACCCACCCCAATCCTCCTGGGGCTGAGTGGCTGGGCTGGACCCCGATTCAGTGATGCAGACGTGGACGGTGGAAAGTTAAAAGGGCGACCTCTGAAGTCGCAGGCAGCGTGGGCTGAGAAGGAGCAGAAAGGGAGCGTTTATGGGGAGCACAGGAGGCAGAGAGGGTCTGTCCTTCACCACCGGGGCTCGCCTTTCACGTCCTTCACGGGGCGTAGGGAGGAGGGTTGCAACTCCTGTGGTTTCCAGAAGCCCAGCCCTGAGCCCTGTAGCCCACACCATGCATGTTCAGGGTTGGGGGTTCCAGGAGTAGTGAGTGTTCTTTTGAGACTGCTGCAGCACCGCGGCTGTTTCGTCACTCGCTGTGACCTCAGGTGCTGCCCCGAGCTCCGAACTTGTGCCTTGCCCTCGTGTGCGACGTAGCGTGGCGCTGCTCGCCTCCTAGACTGAACTTCGTAGTGCTTCTGCCGAAAACCCTTGTGGCCCGGAGGGGCCGCGGGGAGGGTCAGGGAGAGATGAGGGTGGGAGTGTCAGGGGCCCCGGGGAGATGGAGGAGACCCCTGGGCATCTTTTCTGCTCTGAACAGCCCAGGGTTCCTACTAAATGGCTCTGTGCCATCTGCCCGCAGAGGATCCCACAGACTATCTTCCTCCTCCCCGGTGCACTGTCGCCCAAATTTACTGGCACGTGGACTTAGGTATGAACTAGTCTGCTAGGCGGGCTGCAGGGAAACGACGAGGAAGGAAGTCTGGGAGACCCCTGGGCGTCTTTGCTGTCCGTTGACTTCGCTTTTACGACACCCAAGGGCTCCCAATAAATAGTCATTCTATGTCATCTCCCTTCCAAGGGCGGTCCCCTTGGCTCCGGATCGTCCAAATCTGGCGACGGCAGAATCATTTAGGAACGACCCAGGAGGTAGACAGGGGCGCTGGGTTGGCGCGACGGTCCTTTGGCGCCTAGTCAGGCTGCGACGCTCGCGGCGAAGGTGATGTCAGCGGCTCTGACTTACGTAAGAAGCTTCCTAGGTTGCTGCCGCAGCTGCGCCGGTGCGCAGTGGCCTAGGAGCGCGCGGGGCGGAGGCGCTTTGGAGGCATCCTTCCCTGGGGATTTCCGGGCACCTCTGCCCCACAGCCCAGCTCAGCCTCCCAGCGGTCCCTGCCCGCCCGCGTGTTCTCTCCCTCTTCCCCTCCTCCTCCGAAAAACCCTTTGAACCCCGTCCCGGGAATTCACTGCTTTTCTGCAATAACAATAGTAATAAGCGTAATGAATAAATGATGTGCTCGATCGGTTTTCGCAGCTATAAAAGACCCGGAGTTGGGTTAATGACTGGTTGTTTAAAAGGGCAATTCCGGGGATGAGTTCTGGAAAGAATTAGGACTGCCGTAGGCCAAGTCGTATTTTACTTTTGGGACTTGAAATGAGCGCTTTAATCCTGCCTCCTTTTTACCCCAAACCACACAGCAGGGACAGGCCCTTCACTTTCAACAGCGCAGGTATCTGGGGAGTGCGGTTGTGGGAGTGGTGATTTCACTTCA
|
CTCCCTTCATACATACACATCTTTATTATCATCATTCTTCTTCTTGTTGTTACTGAAACATTTATGTGTACTTTGCAGACATCATGGCCCTTTACCCCCAAAGCCTCAGCCTGGATCTTTTATGAACAAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTTATTGTTGCCATAAAACATATTTTTTCCATGTTCTCTTTAGAAACACGAAAAGAGGCTGCATTCCCAAGATCTGGCTTGTGGCTTTAAAATAAAAAATATTTTTACAGTATACTTTTTGGAGGCATGAAAGCACGTGTTTTATTAACATTTCCCAAACTCTTTTTACTGACGGCATACAGCCTGCAGCCTGCTGCAATCGAAAATGCATGCCTTTTTAGAAATTATACCTTTCAGTTAACTGAAGGGGAAAACTTTCCCTTCTTCTGTAAATCATCATCTCTCTGATGGAGAACTTTAAAAATCCTGTGTATGATCAGCACAGTAGGGTGACGAGGAGGTAATGCCGTTTATCTCACCCAACGTGCAATGAGTTTCGTAAGCAGTTTTCTGGGGATTTTGCTCATTGGTGGTTTGGGTCTCATTCACGATATTCTATAGAGCCCGTGCCCAAAACAGGGGGCCACGTGATGCCTGGGAAGGGGTATAAACAGCACTCTGGCTGCTCTGGCCACATGGAGATGCGCCTACGCCCTTTGCCCTCCCCAGTTGTCTCCTTGCGTTCATAGAGCCCGGGGATCTCCAAGGAGCAGCCCAGTTTTCCCTGTAAGAACCCAAAGGTCTTGTACAGAGCTGGAATTCGGCGAAAAACTTGCTCCAACACGCCAAATCTGCCGCATCCTCAATACCCCACCCTCTTCCCTCTGCGCTTACTGCCCACACCCCTACTCCCAACTTGAGGACTCCCCGCCCCCACCACGCTGACAGTCTCAATTCCAACCCCTTGGATGTGAGGAAGTGTCTTTGCGCCTGAACGCGCCCAGCACGGCGAGGCCACCAGTGACTCCCAGCGGCCGCACAGGGCGCTGCGCCCCCCTCGCCCCGGCCTCCCCCGCCCTGCGTCCGCCCCGTCACCCCCGCGCGGCCTCCTGCGCCCGGGCTGGAGGCAGATTCCTCTCTCCGGGTTTTCAGAGCGCCTTTCCGAAACCTCCTCCCCGCCCAGCCAGGGAGAGAGATCCCGGGCGCAATCGCTCCCCGGAGCGGCCGAGGGGCGCGCGGGGAGAGGCCTGCGCCGGGGTACTTTCAAACTGAGGCGCGCGCACACACTCACACCCACCCACCCACTCACCCACACACACACAGACACACGCACGCCCATTTATATAGGCGGCGGCGACGGCAGTGGCCGGGGTGGCGACGGCGAGCACAGAAACGATGGAGTTGAGCCAGTCGACCCTGGTTGGAAGCAAGTGAGAAGAGACCAGGCGCACCCCTAAATTTCTGTGCGGAGCGCTTGTCATCCTCCCCAGGGAACGGTGCACCCAAAGGAGGACTGGCTGGACTGATTTGCTAGGGAGAGGGCGGGGAAGAGGAGGCAAGGTGAGCAGAGAAGCCCCCTGCGTATCCGGACTGCCAGATCGCGCTTTTGCCGGACTCCTGCCCCCTCCCTGCTCAGGTGGGCGCGCCCGGTCTCCAGCTCACAGGGGCGCTTGGAGGAGACCAGAAAGTCGCCGCCTGGCTGCGCGGGATGCCTTTCGCCAAGCGGATCGTGGAGCCGCAATGGCTGTGCAGGCAGCGGCGCCCTGCGCCCGGCCCAGCAGTGGACGCGAGCGGAGGCAGCGCTGAGCCGCCGCCGCCCTTGCAGCCGCCGGGCCGGAGGGACCTGGACGAGGTCGAGGCGCCAGGGCCAGAGGAGCCAGCCCGCGCCGTCCCTGCACCTTCAGGGCTGCCACCGCCGCCGCCACTGCCCGCGCCGGCCGACCAGACTCAGCCGCCGCACGGAGAGGCGTCCGTGGCTGGCGAGGAGAGCACGGCGGGGATCCCGGAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGGCGGCGGCGGCGGCCGTGCTGCTCATGCTGGACCTATGCGCGGTCAGCAACGCCGCTCTGGCCCGTGTCCTCCGGCAGCTCTCGGACGTGGCCCGGCACGCTTGCAGCCTCTTCCAGGAGCTCGAGAGCGACATCCAGCTCACCCACCGCCGCGTCTGGGCGCTGCAGGGCAAGCTCGGCGGCGTGCAGCGCGTCCTCAGCACGCTTGACCCTAAGCAGGAGGCAGTGCGTGAGTACCCGCGCCGTCCGCCCGCCAGGCTATGGGTTTCTGCGCCGCACCCTCGCGCCCTCCCCAGCAGCGGCAATCCCAGCCCCGCGGCGCCGCTCCGGTTGCAGCTTGCACCTTACTACTCTCGCCTTCCCACCCTTCCCATCCCCTGGGACCCACCCCAATCCTCCTGGGGCTGAGTGGCTGGGCTGGACCCCGATTCAGTGATGCAGACGTGGACGGTGGAAAGTTAAAAGGGCGACCTCTGAAGTCGCAGGCAGCGTGGGCTGAGAAGGAGCAGAAAGGGAGCGTTTATGGGGAGCACAGGAGGCAGAGAGGGTCTGTCCTTCACCACCGGGGCTCGCCTTTCACGTCCTTCACGGGGCGTAGGGAGGAGGGTTGCAACTCCTGTGGTTTCCAGAAGCCCAGCCCTGAGCCCTGTAGCCCACACCATGCATGTTCAGGGTTGGGGGTTCCAGGAGTAGTGAGTGTTCTTTTGAGACTGCTGCAGCACCGCGGCTGTTTCGTCACTCGCTGTGACCTCAGGTGCTGCCCCGAGCTCCGAACTTGTGCCTTGCCCTCGTGTGCGACGTAGCGTGGCGCTGCTCGCCTCCTAGACTGAACTTCGTAGTGCTTCTGCCGAAAACCCTTGTGGCCCGGAGGGGCCGCGGGGAGGGTCAGGGAGAGATGAGGGTGGGAGTGTCAGGGGCCCCGGGGAGATGGAGGAGACCCCTGGGCATCTTTTCTGCTCTGAACAGCCCAGGGTTCCTACTAAATGGCTCTGTGCCATCTGCCCGCAGAGGATCCCACAGACTATCTTCCTCCTCCCCGGTGCACTGTCGCCCAAATTTACTGGCACGTGGACTTAGGTATGAACTAGTCTGCTAGGCGGGCTGCAGGGAAACGACGAGGAAGGAAGTCTGGGAGACCCCTGGGCGTCTTTGCTGTCCGTTGACTTCGCTTTTACGACACCCAAGGGCTCCCAATAAATAGTCATTCTATGTCATCTCCCTTCCAAGGGCGGTCCCCTTGGCTCCGGATCGTCCAAATCTGGCGACGGCAGAATCATTTAGGAACGACCCAGGAGGTAGACAGGGGCGCTGGGTTGGCGCGACGGTCCTTTGGCGCCTAGTCAGGCTGCGACGCTCGCGGCGAAGGTGATGTCAGCGGCTCTGACTTACGTAAGAAGCTTCCTAGGTTGCTGCCGCAGCTGCGCCGGTGCGCAGTGGCCTAGGAGCGCGCGGGGCGGAGGCGCTTTGGAGGCATCCTTCCCTGGGGATTTCCGGGCACCTCTGCCCCACAGCCCAGCTCAGCCTCCCAGCGGTCCCTGCCCGCCCGCGTGTTCTCTCCCTCTTCCCCTCCTCCTCCGAAAAACCCTTTGAACCCCGTCCCGGGAATTCACTGCTTTTCTGCAATAACAATAGTAATAAGCGTAATGAATAAATGATGTGCTCGATCGGTTTTCGCAGCTATAAAAGACCCGGAGTTGGGTTAATGACTGGTTGTTTAAAAGGGCAATTCCGGGGATGAGTTCTGGAAAGAATTAGGACTGCCGTAGGCCAAGTCGTATTTTACTTTTGGGACTTGAAATGAGCGCTTTAATCCTGCCTCCTTTTTACCCCAAACCACACAGCAGGGACAGGCCCTTCACTTTCAACAGCGCAGGTATCTGGGGAGTGCGGTTGTGGGAGTGGTGATTTCACTTCANNN
|
benign
| 330,098 |
The genetic variant at chromosome X, position 17376059, affecting gene NHS (NHS actin remodeling regulator): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
CAAAGCCTCAGCCTGGATCTTTTATGAACAAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTTATTGTTGCCATAAAACATATTTTTTCCATGTTCTCTTTAGAAACACGAAAAGAGGCTGCATTCCCAAGATCTGGCTTGTGGCTTTAAAATAAAAAATATTTTTACAGTATACTTTTTGGAGGCATGAAAGCACGTGTTTTATTAACATTTCCCAAACTCTTTTTACTGACGGCATACAGCCTGCAGCCTGCTGCAATCGAAAATGCATGCCTTTTTAGAAATTATACCTTTCAGTTAACTGAAGGGGAAAACTTTCCCTTCTTCTGTAAATCATCATCTCTCTGATGGAGAACTTTAAAAATCCTGTGTATGATCAGCACAGTAGGGTGACGAGGAGGTAATGCCGTTTATCTCACCCAACGTGCAATGAGTTTCGTAAGCAGTTTTCTGGGGATTTTGCTCATTGGTGGTTTGGGTCTCATTCACGATATTCTATAGAGCCCGTGCCCAAAACAGGGGGCCACGTGATGCCTGGGAAGGGGTATAAACAGCACTCTGGCTGCTCTGGCCACATGGAGATGCGCCTACGCCCTTTGCCCTCCCCAGTTGTCTCCTTGCGTTCATAGAGCCCGGGGATCTCCAAGGAGCAGCCCAGTTTTCCCTGTAAGAACCCAAAGGTCTTGTACAGAGCTGGAATTCGGCGAAAAACTTGCTCCAACACGCCAAATCTGCCGCATCCTCAATACCCCACCCTCTTCCCTCTGCGCTTACTGCCCACACCCCTACTCCCAACTTGAGGACTCCCCGCCCCCACCACGCTGACAGTCTCAATTCCAACCCCTTGGATGTGAGGAAGTGTCTTTGCGCCTGAACGCGCCCAGCACGGCGAGGCCACCAGTGACTCCCAGCGGCCGCACAGGGCGCTGCGCCCCCCTCGCCCCGGCCTCCCCCGCCCTGCGTCCGCCCCGTCACCCCCGCGCGGCCTCCTGCGCCCGGGCTGGAGGCAGATTCCTCTCTCCGGGTTTTCAGAGCGCCTTTCCGAAACCTCCTCCCCGCCCAGCCAGGGAGAGAGATCCCGGGCGCAATCGCTCCCCGGAGCGGCCGAGGGGCGCGCGGGGAGAGGCCTGCGCCGGGGTACTTTCAAACTGAGGCGCGCGCACACACTCACACCCACCCACCCACTCACCCACACACACACAGACACACGCACGCCCATTTATATAGGCGGCGGCGACGGCAGTGGCCGGGGTGGCGACGGCGAGCACAGAAACGATGGAGTTGAGCCAGTCGACCCTGGTTGGAAGCAAGTGAGAAGAGACCAGGCGCACCCCTAAATTTCTGTGCGGAGCGCTTGTCATCCTCCCCAGGGAACGGTGCACCCAAAGGAGGACTGGCTGGACTGATTTGCTAGGGAGAGGGCGGGGAAGAGGAGGCAAGGTGAGCAGAGAAGCCCCCTGCGTATCCGGACTGCCAGATCGCGCTTTTGCCGGACTCCTGCCCCCTCCCTGCTCAGGTGGGCGCGCCCGGTCTCCAGCTCACAGGGGCGCTTGGAGGAGACCAGAAAGTCGCCGCCTGGCTGCGCGGGATGCCTTTCGCCAAGCGGATCGTGGAGCCGCAATGGCTGTGCAGGCAGCGGCGCCCTGCGCCCGGCCCAGCAGTGGACGCGAGCGGAGGCAGCGCTGAGCCGCCGCCGCCCTTGCAGCCGCCGGGCCGGAGGGACCTGGACGAGGTCGAGGCGCCAGGGCCAGAGGAGCCAGCCCGCGCCGTCCCTGCACCTTCAGGGCTGCCACCGCCGCCGCCGCCACTGCCCGCGCCGGCCGACCAGACTCAGCCGCCGCACGGAGAGGCGTCCGTGGCTGGCGAGGAGAGCACGGCGGGGATCCCGGAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGGCGGCGGCGGCGGCCGTGCTGCTCATGCTGGACCTATGCGCGGTCAGCAACGCCGCTCTGGCCCGTGTCCTCCGGCAGCTCTCGGACGTGGCCCGGCACGCTTGCAGCCTCTTCCAGGAGCTCGAGAGCGACATCCAGCTCACCCACCGCCGCGTCTGGGCGCTGCAGGGCAAGCTCGGCGGCGTGCAGCGCGTCCTCAGCACGCTTGACCCTAAGCAGGAGGCAGTGCGTGAGTACCCGCGCCGTCCGCCCGCCAGGCTATGGGTTTCTGCGCCGCACCCTCGCGCCCTCCCCAGCAGCGGCAATCCCAGCCCCGCGGCGCCGCTCCGGTTGCAGCTTGCACCTTACTACTCTCGCCTTCCCACCCTTCCCATCCCCTGGGACCCACCCCAATCCTCCTGGGGCTGAGTGGCTGGGCTGGACCCCGATTCAGTGATGCAGACGTGGACGGTGGAAAGTTAAAAGGGCGACCTCTGAAGTCGCAGGCAGCGTGGGCTGAGAAGGAGCAGAAAGGGAGCGTTTATGGGGAGCACAGGAGGCAGAGAGGGTCTGTCCTTCACCACCGGGGCTCGCCTTTCACGTCCTTCACGGGGCGTAGGGAGGAGGGTTGCAACTCCTGTGGTTTCCAGAAGCCCAGCCCTGAGCCCTGTAGCCCACACCATGCATGTTCAGGGTTGGGGGTTCCAGGAGTAGTGAGTGTTCTTTTGAGACTGCTGCAGCACCGCGGCTGTTTCGTCACTCGCTGTGACCTCAGGTGCTGCCCCGAGCTCCGAACTTGTGCCTTGCCCTCGTGTGCGACGTAGCGTGGCGCTGCTCGCCTCCTAGACTGAACTTCGTAGTGCTTCTGCCGAAAACCCTTGTGGCCCGGAGGGGCCGCGGGGAGGGTCAGGGAGAGATGAGGGTGGGAGTGTCAGGGGCCCCGGGGAGATGGAGGAGACCCCTGGGCATCTTTTCTGCTCTGAACAGCCCAGGGTTCCTACTAAATGGCTCTGTGCCATCTGCCCGCAGAGGATCCCACAGACTATCTTCCTCCTCCCCGGTGCACTGTCGCCCAAATTTACTGGCACGTGGACTTAGGTATGAACTAGTCTGCTAGGCGGGCTGCAGGGAAACGACGAGGAAGGAAGTCTGGGAGACCCCTGGGCGTCTTTGCTGTCCGTTGACTTCGCTTTTACGACACCCAAGGGCTCCCAATAAATAGTCATTCTATGTCATCTCCCTTCCAAGGGCGGTCCCCTTGGCTCCGGATCGTCCAAATCTGGCGACGGCAGAATCATTTAGGAACGACCCAGGAGGTAGACAGGGGCGCTGGGTTGGCGCGACGGTCCTTTGGCGCCTAGTCAGGCTGCGACGCTCGCGGCGAAGGTGATGTCAGCGGCTCTGACTTACGTAAGAAGCTTCCTAGGTTGCTGCCGCAGCTGCGCCGGTGCGCAGTGGCCTAGGAGCGCGCGGGGCGGAGGCGCTTTGGAGGCATCCTTCCCTGGGGATTTCCGGGCACCTCTGCCCCACAGCCCAGCTCAGCCTCCCAGCGGTCCCTGCCCGCCCGCGTGTTCTCTCCCTCTTCCCCTCCTCCTCCGAAAAACCCTTTGAACCCCGTCCCGGGAATTCACTGCTTTTCTGCAATAACAATAGTAATAAGCGTAATGAATAAATGATGTGCTCGATCGGTTTTCGCAGCTATAAAAGACCCGGAGTTGGGTTAATGACTGGTTGTTTAAAAGGGCAATTCCGGGGATGAGTTCTGGAAAGAATTAGGACTGCCGTAGGCCAAGTCGTATTTTACTTTTGGGACTTGAAATGAGCGCTTTAATCCTGCCTCCTTTTTACCCCAAACCACACAGCAGGGACAGGCCCTTCACTTTCAACAGCGCAGGTATCTGGGGAGTGCGGTTGTGGGAGTGGTGATTTCACTTCAAAAGAACTGGAGGGAAGTTTTGCAGACTGTTGAGTGGTGCATACATTTCCCGTGTGTGTGTGTGTGTGTGTGTGTGTGAGACACACCTCTCCTTAAGT
|
CAAAGCCTCAGCCTGGATCTTTTATGAACAAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTTATTGTTGCCATAAAACATATTTTTTCCATGTTCTCTTTAGAAACACGAAAAGAGGCTGCATTCCCAAGATCTGGCTTGTGGCTTTAAAATAAAAAATATTTTTACAGTATACTTTTTGGAGGCATGAAAGCACGTGTTTTATTAACATTTCCCAAACTCTTTTTACTGACGGCATACAGCCTGCAGCCTGCTGCAATCGAAAATGCATGCCTTTTTAGAAATTATACCTTTCAGTTAACTGAAGGGGAAAACTTTCCCTTCTTCTGTAAATCATCATCTCTCTGATGGAGAACTTTAAAAATCCTGTGTATGATCAGCACAGTAGGGTGACGAGGAGGTAATGCCGTTTATCTCACCCAACGTGCAATGAGTTTCGTAAGCAGTTTTCTGGGGATTTTGCTCATTGGTGGTTTGGGTCTCATTCACGATATTCTATAGAGCCCGTGCCCAAAACAGGGGGCCACGTGATGCCTGGGAAGGGGTATAAACAGCACTCTGGCTGCTCTGGCCACATGGAGATGCGCCTACGCCCTTTGCCCTCCCCAGTTGTCTCCTTGCGTTCATAGAGCCCGGGGATCTCCAAGGAGCAGCCCAGTTTTCCCTGTAAGAACCCAAAGGTCTTGTACAGAGCTGGAATTCGGCGAAAAACTTGCTCCAACACGCCAAATCTGCCGCATCCTCAATACCCCACCCTCTTCCCTCTGCGCTTACTGCCCACACCCCTACTCCCAACTTGAGGACTCCCCGCCCCCACCACGCTGACAGTCTCAATTCCAACCCCTTGGATGTGAGGAAGTGTCTTTGCGCCTGAACGCGCCCAGCACGGCGAGGCCACCAGTGACTCCCAGCGGCCGCACAGGGCGCTGCGCCCCCCTCGCCCCGGCCTCCCCCGCCCTGCGTCCGCCCCGTCACCCCCGCGCGGCCTCCTGCGCCCGGGCTGGAGGCAGATTCCTCTCTCCGGGTTTTCAGAGCGCCTTTCCGAAACCTCCTCCCCGCCCAGCCAGGGAGAGAGATCCCGGGCGCAATCGCTCCCCGGAGCGGCCGAGGGGCGCGCGGGGAGAGGCCTGCGCCGGGGTACTTTCAAACTGAGGCGCGCGCACACACTCACACCCACCCACCCACTCACCCACACACACACAGACACACGCACGCCCATTTATATAGGCGGCGGCGACGGCAGTGGCCGGGGTGGCGACGGCGAGCACAGAAACGATGGAGTTGAGCCAGTCGACCCTGGTTGGAAGCAAGTGAGAAGAGACCAGGCGCACCCCTAAATTTCTGTGCGGAGCGCTTGTCATCCTCCCCAGGGAACGGTGCACCCAAAGGAGGACTGGCTGGACTGATTTGCTAGGGAGAGGGCGGGGAAGAGGAGGCAAGGTGAGCAGAGAAGCCCCCTGCGTATCCGGACTGCCAGATCGCGCTTTTGCCGGACTCCTGCCCCCTCCCTGCTCAGGTGGGCGCGCCCGGTCTCCAGCTCACAGGGGCGCTTGGAGGAGACCAGAAAGTCGCCGCCTGGCTGCGCGGGATGCCTTTCGCCAAGCGGATCGTGGAGCCGCAATGGCTGTGCAGGCAGCGGCGCCCTGCGCCCGGCCCAGCAGTGGACGCGAGCGGAGGCAGCGCTGAGCCGCCGCCGCCCTTGCAGCCGCCGGGCCGGAGGGACCTGGACGAGGTCGAGGCGCCAGGGCCAGAGGAGCCAGCCCGCGCCGTCCCTGCACCTTCAGGGCTGCCACCGCCGCCGCCGCCACTGCCCGCGCCGGCCGACCAGACTCAGCCGCCGCACGGAGAGGCGTCCGTGGCTGGCGAGGAGAGCACGGCGGGGATCCCGGAGGCGGCGGCGGCCGTGCTGCTCATGCTGGACCTATGCGCGGTCAGCAACGCCGCTCTGGCCCGTGTCCTCCGGCAGCTCTCGGACGTGGCCCGGCACGCTTGCAGCCTCTTCCAGGAGCTCGAGAGCGACATCCAGCTCACCCACCGCCGCGTCTGGGCGCTGCAGGGCAAGCTCGGCGGCGTGCAGCGCGTCCTCAGCACGCTTGACCCTAAGCAGGAGGCAGTGCGTGAGTACCCGCGCCGTCCGCCCGCCAGGCTATGGGTTTCTGCGCCGCACCCTCGCGCCCTCCCCAGCAGCGGCAATCCCAGCCCCGCGGCGCCGCTCCGGTTGCAGCTTGCACCTTACTACTCTCGCCTTCCCACCCTTCCCATCCCCTGGGACCCACCCCAATCCTCCTGGGGCTGAGTGGCTGGGCTGGACCCCGATTCAGTGATGCAGACGTGGACGGTGGAAAGTTAAAAGGGCGACCTCTGAAGTCGCAGGCAGCGTGGGCTGAGAAGGAGCAGAAAGGGAGCGTTTATGGGGAGCACAGGAGGCAGAGAGGGTCTGTCCTTCACCACCGGGGCTCGCCTTTCACGTCCTTCACGGGGCGTAGGGAGGAGGGTTGCAACTCCTGTGGTTTCCAGAAGCCCAGCCCTGAGCCCTGTAGCCCACACCATGCATGTTCAGGGTTGGGGGTTCCAGGAGTAGTGAGTGTTCTTTTGAGACTGCTGCAGCACCGCGGCTGTTTCGTCACTCGCTGTGACCTCAGGTGCTGCCCCGAGCTCCGAACTTGTGCCTTGCCCTCGTGTGCGACGTAGCGTGGCGCTGCTCGCCTCCTAGACTGAACTTCGTAGTGCTTCTGCCGAAAACCCTTGTGGCCCGGAGGGGCCGCGGGGAGGGTCAGGGAGAGATGAGGGTGGGAGTGTCAGGGGCCCCGGGGAGATGGAGGAGACCCCTGGGCATCTTTTCTGCTCTGAACAGCCCAGGGTTCCTACTAAATGGCTCTGTGCCATCTGCCCGCAGAGGATCCCACAGACTATCTTCCTCCTCCCCGGTGCACTGTCGCCCAAATTTACTGGCACGTGGACTTAGGTATGAACTAGTCTGCTAGGCGGGCTGCAGGGAAACGACGAGGAAGGAAGTCTGGGAGACCCCTGGGCGTCTTTGCTGTCCGTTGACTTCGCTTTTACGACACCCAAGGGCTCCCAATAAATAGTCATTCTATGTCATCTCCCTTCCAAGGGCGGTCCCCTTGGCTCCGGATCGTCCAAATCTGGCGACGGCAGAATCATTTAGGAACGACCCAGGAGGTAGACAGGGGCGCTGGGTTGGCGCGACGGTCCTTTGGCGCCTAGTCAGGCTGCGACGCTCGCGGCGAAGGTGATGTCAGCGGCTCTGACTTACGTAAGAAGCTTCCTAGGTTGCTGCCGCAGCTGCGCCGGTGCGCAGTGGCCTAGGAGCGCGCGGGGCGGAGGCGCTTTGGAGGCATCCTTCCCTGGGGATTTCCGGGCACCTCTGCCCCACAGCCCAGCTCAGCCTCCCAGCGGTCCCTGCCCGCCCGCGTGTTCTCTCCCTCTTCCCCTCCTCCTCCGAAAAACCCTTTGAACCCCGTCCCGGGAATTCACTGCTTTTCTGCAATAACAATAGTAATAAGCGTAATGAATAAATGATGTGCTCGATCGGTTTTCGCAGCTATAAAAGACCCGGAGTTGGGTTAATGACTGGTTGTTTAAAAGGGCAATTCCGGGGATGAGTTCTGGAAAGAATTAGGACTGCCGTAGGCCAAGTCGTATTTTACTTTTGGGACTTGAAATGAGCGCTTTAATCCTGCCTCCTTTTTACCCCAAACCACACAGCAGGGACAGGCCCTTCACTTTCAACAGCGCAGGTATCTGGGGAGTGCGGTTGTGGGAGTGGTGATTTCACTTCAAAAGAACTGGAGGGAAGTTTTGCAGACTGTTGAGTGGTGCATACATTTCCCGTGTGTGTGTGTGTGTGTGTGTGTGTGAGACACACCTCTCCTTAAGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 330,100 |
Chromosome X, position 17376088, gene NHS (NHS actin remodeling regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
AAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTTATTGTTGCCATAAAACATATTTTTTCCATGTTCTCTTTAGAAACACGAAAAGAGGCTGCATTCCCAAGATCTGGCTTGTGGCTTTAAAATAAAAAATATTTTTACAGTATACTTTTTGGAGGCATGAAAGCACGTGTTTTATTAACATTTCCCAAACTCTTTTTACTGACGGCATACAGCCTGCAGCCTGCTGCAATCGAAAATGCATGCCTTTTTAGAAATTATACCTTTCAGTTAACTGAAGGGGAAAACTTTCCCTTCTTCTGTAAATCATCATCTCTCTGATGGAGAACTTTAAAAATCCTGTGTATGATCAGCACAGTAGGGTGACGAGGAGGTAATGCCGTTTATCTCACCCAACGTGCAATGAGTTTCGTAAGCAGTTTTCTGGGGATTTTGCTCATTGGTGGTTTGGGTCTCATTCACGATATTCTATAGAGCCCGTGCCCAAAACAGGGGGCCACGTGATGCCTGGGAAGGGGTATAAACAGCACTCTGGCTGCTCTGGCCACATGGAGATGCGCCTACGCCCTTTGCCCTCCCCAGTTGTCTCCTTGCGTTCATAGAGCCCGGGGATCTCCAAGGAGCAGCCCAGTTTTCCCTGTAAGAACCCAAAGGTCTTGTACAGAGCTGGAATTCGGCGAAAAACTTGCTCCAACACGCCAAATCTGCCGCATCCTCAATACCCCACCCTCTTCCCTCTGCGCTTACTGCCCACACCCCTACTCCCAACTTGAGGACTCCCCGCCCCCACCACGCTGACAGTCTCAATTCCAACCCCTTGGATGTGAGGAAGTGTCTTTGCGCCTGAACGCGCCCAGCACGGCGAGGCCACCAGTGACTCCCAGCGGCCGCACAGGGCGCTGCGCCCCCCTCGCCCCGGCCTCCCCCGCCCTGCGTCCGCCCCGTCACCCCCGCGCGGCCTCCTGCGCCCGGGCTGGAGGCAGATTCCTCTCTCCGGGTTTTCAGAGCGCCTTTCCGAAACCTCCTCCCCGCCCAGCCAGGGAGAGAGATCCCGGGCGCAATCGCTCCCCGGAGCGGCCGAGGGGCGCGCGGGGAGAGGCCTGCGCCGGGGTACTTTCAAACTGAGGCGCGCGCACACACTCACACCCACCCACCCACTCACCCACACACACACAGACACACGCACGCCCATTTATATAGGCGGCGGCGACGGCAGTGGCCGGGGTGGCGACGGCGAGCACAGAAACGATGGAGTTGAGCCAGTCGACCCTGGTTGGAAGCAAGTGAGAAGAGACCAGGCGCACCCCTAAATTTCTGTGCGGAGCGCTTGTCATCCTCCCCAGGGAACGGTGCACCCAAAGGAGGACTGGCTGGACTGATTTGCTAGGGAGAGGGCGGGGAAGAGGAGGCAAGGTGAGCAGAGAAGCCCCCTGCGTATCCGGACTGCCAGATCGCGCTTTTGCCGGACTCCTGCCCCCTCCCTGCTCAGGTGGGCGCGCCCGGTCTCCAGCTCACAGGGGCGCTTGGAGGAGACCAGAAAGTCGCCGCCTGGCTGCGCGGGATGCCTTTCGCCAAGCGGATCGTGGAGCCGCAATGGCTGTGCAGGCAGCGGCGCCCTGCGCCCGGCCCAGCAGTGGACGCGAGCGGAGGCAGCGCTGAGCCGCCGCCGCCCTTGCAGCCGCCGGGCCGGAGGGACCTGGACGAGGTCGAGGCGCCAGGGCCAGAGGAGCCAGCCCGCGCCGTCCCTGCACCTTCAGGGCTGCCACCGCCGCCGCCGCCACTGCCCGCGCCGGCCGACCAGACTCAGCCGCCGCACGGAGAGGCGTCCGTGGCTGGCGAGGAGAGCACGGCGGGGATCCCGGAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGGCGGCGGCGGCGGCCGTGCTGCTCATGCTGGACCTATGCGCGGTCAGCAACGCCGCTCTGGCCCGTGTCCTCCGGCAGCTCTCGGACGTGGCCCGGCACGCTTGCAGCCTCTTCCAGGAGCTCGAGAGCGACATCCAGCTCACCCACCGCCGCGTCTGGGCGCTGCAGGGCAAGCTCGGCGGCGTGCAGCGCGTCCTCAGCACGCTTGACCCTAAGCAGGAGGCAGTGCGTGAGTACCCGCGCCGTCCGCCCGCCAGGCTATGGGTTTCTGCGCCGCACCCTCGCGCCCTCCCCAGCAGCGGCAATCCCAGCCCCGCGGCGCCGCTCCGGTTGCAGCTTGCACCTTACTACTCTCGCCTTCCCACCCTTCCCATCCCCTGGGACCCACCCCAATCCTCCTGGGGCTGAGTGGCTGGGCTGGACCCCGATTCAGTGATGCAGACGTGGACGGTGGAAAGTTAAAAGGGCGACCTCTGAAGTCGCAGGCAGCGTGGGCTGAGAAGGAGCAGAAAGGGAGCGTTTATGGGGAGCACAGGAGGCAGAGAGGGTCTGTCCTTCACCACCGGGGCTCGCCTTTCACGTCCTTCACGGGGCGTAGGGAGGAGGGTTGCAACTCCTGTGGTTTCCAGAAGCCCAGCCCTGAGCCCTGTAGCCCACACCATGCATGTTCAGGGTTGGGGGTTCCAGGAGTAGTGAGTGTTCTTTTGAGACTGCTGCAGCACCGCGGCTGTTTCGTCACTCGCTGTGACCTCAGGTGCTGCCCCGAGCTCCGAACTTGTGCCTTGCCCTCGTGTGCGACGTAGCGTGGCGCTGCTCGCCTCCTAGACTGAACTTCGTAGTGCTTCTGCCGAAAACCCTTGTGGCCCGGAGGGGCCGCGGGGAGGGTCAGGGAGAGATGAGGGTGGGAGTGTCAGGGGCCCCGGGGAGATGGAGGAGACCCCTGGGCATCTTTTCTGCTCTGAACAGCCCAGGGTTCCTACTAAATGGCTCTGTGCCATCTGCCCGCAGAGGATCCCACAGACTATCTTCCTCCTCCCCGGTGCACTGTCGCCCAAATTTACTGGCACGTGGACTTAGGTATGAACTAGTCTGCTAGGCGGGCTGCAGGGAAACGACGAGGAAGGAAGTCTGGGAGACCCCTGGGCGTCTTTGCTGTCCGTTGACTTCGCTTTTACGACACCCAAGGGCTCCCAATAAATAGTCATTCTATGTCATCTCCCTTCCAAGGGCGGTCCCCTTGGCTCCGGATCGTCCAAATCTGGCGACGGCAGAATCATTTAGGAACGACCCAGGAGGTAGACAGGGGCGCTGGGTTGGCGCGACGGTCCTTTGGCGCCTAGTCAGGCTGCGACGCTCGCGGCGAAGGTGATGTCAGCGGCTCTGACTTACGTAAGAAGCTTCCTAGGTTGCTGCCGCAGCTGCGCCGGTGCGCAGTGGCCTAGGAGCGCGCGGGGCGGAGGCGCTTTGGAGGCATCCTTCCCTGGGGATTTCCGGGCACCTCTGCCCCACAGCCCAGCTCAGCCTCCCAGCGGTCCCTGCCCGCCCGCGTGTTCTCTCCCTCTTCCCCTCCTCCTCCGAAAAACCCTTTGAACCCCGTCCCGGGAATTCACTGCTTTTCTGCAATAACAATAGTAATAAGCGTAATGAATAAATGATGTGCTCGATCGGTTTTCGCAGCTATAAAAGACCCGGAGTTGGGTTAATGACTGGTTGTTTAAAAGGGCAATTCCGGGGATGAGTTCTGGAAAGAATTAGGACTGCCGTAGGCCAAGTCGTATTTTACTTTTGGGACTTGAAATGAGCGCTTTAATCCTGCCTCCTTTTTACCCCAAACCACACAGCAGGGACAGGCCCTTCACTTTCAACAGCGCAGGTATCTGGGGAGTGCGGTTGTGGGAGTGGTGATTTCACTTCAAAAGAACTGGAGGGAAGTTTTGCAGACTGTTGAGTGGTGCATACATTTCCCGTGTGTGTGTGTGTGTGTGTGTGTGTGAGACACACCTCTCCTTAAGTTAGATTTCACGCGAATGAAACTCACTGCC
|
AAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTTATTGTTGCCATAAAACATATTTTTTCCATGTTCTCTTTAGAAACACGAAAAGAGGCTGCATTCCCAAGATCTGGCTTGTGGCTTTAAAATAAAAAATATTTTTACAGTATACTTTTTGGAGGCATGAAAGCACGTGTTTTATTAACATTTCCCAAACTCTTTTTACTGACGGCATACAGCCTGCAGCCTGCTGCAATCGAAAATGCATGCCTTTTTAGAAATTATACCTTTCAGTTAACTGAAGGGGAAAACTTTCCCTTCTTCTGTAAATCATCATCTCTCTGATGGAGAACTTTAAAAATCCTGTGTATGATCAGCACAGTAGGGTGACGAGGAGGTAATGCCGTTTATCTCACCCAACGTGCAATGAGTTTCGTAAGCAGTTTTCTGGGGATTTTGCTCATTGGTGGTTTGGGTCTCATTCACGATATTCTATAGAGCCCGTGCCCAAAACAGGGGGCCACGTGATGCCTGGGAAGGGGTATAAACAGCACTCTGGCTGCTCTGGCCACATGGAGATGCGCCTACGCCCTTTGCCCTCCCCAGTTGTCTCCTTGCGTTCATAGAGCCCGGGGATCTCCAAGGAGCAGCCCAGTTTTCCCTGTAAGAACCCAAAGGTCTTGTACAGAGCTGGAATTCGGCGAAAAACTTGCTCCAACACGCCAAATCTGCCGCATCCTCAATACCCCACCCTCTTCCCTCTGCGCTTACTGCCCACACCCCTACTCCCAACTTGAGGACTCCCCGCCCCCACCACGCTGACAGTCTCAATTCCAACCCCTTGGATGTGAGGAAGTGTCTTTGCGCCTGAACGCGCCCAGCACGGCGAGGCCACCAGTGACTCCCAGCGGCCGCACAGGGCGCTGCGCCCCCCTCGCCCCGGCCTCCCCCGCCCTGCGTCCGCCCCGTCACCCCCGCGCGGCCTCCTGCGCCCGGGCTGGAGGCAGATTCCTCTCTCCGGGTTTTCAGAGCGCCTTTCCGAAACCTCCTCCCCGCCCAGCCAGGGAGAGAGATCCCGGGCGCAATCGCTCCCCGGAGCGGCCGAGGGGCGCGCGGGGAGAGGCCTGCGCCGGGGTACTTTCAAACTGAGGCGCGCGCACACACTCACACCCACCCACCCACTCACCCACACACACACAGACACACGCACGCCCATTTATATAGGCGGCGGCGACGGCAGTGGCCGGGGTGGCGACGGCGAGCACAGAAACGATGGAGTTGAGCCAGTCGACCCTGGTTGGAAGCAAGTGAGAAGAGACCAGGCGCACCCCTAAATTTCTGTGCGGAGCGCTTGTCATCCTCCCCAGGGAACGGTGCACCCAAAGGAGGACTGGCTGGACTGATTTGCTAGGGAGAGGGCGGGGAAGAGGAGGCAAGGTGAGCAGAGAAGCCCCCTGCGTATCCGGACTGCCAGATCGCGCTTTTGCCGGACTCCTGCCCCCTCCCTGCTCAGGTGGGCGCGCCCGGTCTCCAGCTCACAGGGGCGCTTGGAGGAGACCAGAAAGTCGCCGCCTGGCTGCGCGGGATGCCTTTCGCCAAGCGGATCGTGGAGCCGCAATGGCTGTGCAGGCAGCGGCGCCCTGCGCCCGGCCCAGCAGTGGACGCGAGCGGAGGCAGCGCTGAGCCGCCGCCGCCCTTGCAGCCGCCGGGCCGGAGGGACCTGGACGAGGTCGAGGCGCCAGGGCCAGAGGAGCCAGCCCGCGCCGTCCCTGCACCTTCAGGGCTGCCACCGCCGCCGCCGCCACTGCCCGCGCCGGCCGACCAGACTCAGCCGCCGCACGGAGAGGCGTCCGTGGCTGGCGAGGAGAGCACGGCGGGGATCCCGGAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGGCGGCGGCGGCGGCGGCCGTGCTGCTCATGCTGGACCTATGCGCGGTCAGCAACGCCGCTCTGGCCCGTGTCCTCCGGCAGCTCTCGGACGTGGCCCGGCACGCTTGCAGCCTCTTCCAGGAGCTCGAGAGCGACATCCAGCTCACCCACCGCCGCGTCTGGGCGCTGCAGGGCAAGCTCGGCGGCGTGCAGCGCGTCCTCAGCACGCTTGACCCTAAGCAGGAGGCAGTGCGTGAGTACCCGCGCCGTCCGCCCGCCAGGCTATGGGTTTCTGCGCCGCACCCTCGCGCCCTCCCCAGCAGCGGCAATCCCAGCCCCGCGGCGCCGCTCCGGTTGCAGCTTGCACCTTACTACTCTCGCCTTCCCACCCTTCCCATCCCCTGGGACCCACCCCAATCCTCCTGGGGCTGAGTGGCTGGGCTGGACCCCGATTCAGTGATGCAGACGTGGACGGTGGAAAGTTAAAAGGGCGACCTCTGAAGTCGCAGGCAGCGTGGGCTGAGAAGGAGCAGAAAGGGAGCGTTTATGGGGAGCACAGGAGGCAGAGAGGGTCTGTCCTTCACCACCGGGGCTCGCCTTTCACGTCCTTCACGGGGCGTAGGGAGGAGGGTTGCAACTCCTGTGGTTTCCAGAAGCCCAGCCCTGAGCCCTGTAGCCCACACCATGCATGTTCAGGGTTGGGGGTTCCAGGAGTAGTGAGTGTTCTTTTGAGACTGCTGCAGCACCGCGGCTGTTTCGTCACTCGCTGTGACCTCAGGTGCTGCCCCGAGCTCCGAACTTGTGCCTTGCCCTCGTGTGCGACGTAGCGTGGCGCTGCTCGCCTCCTAGACTGAACTTCGTAGTGCTTCTGCCGAAAACCCTTGTGGCCCGGAGGGGCCGCGGGGAGGGTCAGGGAGAGATGAGGGTGGGAGTGTCAGGGGCCCCGGGGAGATGGAGGAGACCCCTGGGCATCTTTTCTGCTCTGAACAGCCCAGGGTTCCTACTAAATGGCTCTGTGCCATCTGCCCGCAGAGGATCCCACAGACTATCTTCCTCCTCCCCGGTGCACTGTCGCCCAAATTTACTGGCACGTGGACTTAGGTATGAACTAGTCTGCTAGGCGGGCTGCAGGGAAACGACGAGGAAGGAAGTCTGGGAGACCCCTGGGCGTCTTTGCTGTCCGTTGACTTCGCTTTTACGACACCCAAGGGCTCCCAATAAATAGTCATTCTATGTCATCTCCCTTCCAAGGGCGGTCCCCTTGGCTCCGGATCGTCCAAATCTGGCGACGGCAGAATCATTTAGGAACGACCCAGGAGGTAGACAGGGGCGCTGGGTTGGCGCGACGGTCCTTTGGCGCCTAGTCAGGCTGCGACGCTCGCGGCGAAGGTGATGTCAGCGGCTCTGACTTACGTAAGAAGCTTCCTAGGTTGCTGCCGCAGCTGCGCCGGTGCGCAGTGGCCTAGGAGCGCGCGGGGCGGAGGCGCTTTGGAGGCATCCTTCCCTGGGGATTTCCGGGCACCTCTGCCCCACAGCCCAGCTCAGCCTCCCAGCGGTCCCTGCCCGCCCGCGTGTTCTCTCCCTCTTCCCCTCCTCCTCCGAAAAACCCTTTGAACCCCGTCCCGGGAATTCACTGCTTTTCTGCAATAACAATAGTAATAAGCGTAATGAATAAATGATGTGCTCGATCGGTTTTCGCAGCTATAAAAGACCCGGAGTTGGGTTAATGACTGGTTGTTTAAAAGGGCAATTCCGGGGATGAGTTCTGGAAAGAATTAGGACTGCCGTAGGCCAAGTCGTATTTTACTTTTGGGACTTGAAATGAGCGCTTTAATCCTGCCTCCTTTTTACCCCAAACCACACAGCAGGGACAGGCCCTTCACTTTCAACAGCGCAGGTATCTGGGGAGTGCGGTTGTGGGAGTGGTGATTTCACTTCAAAAGAACTGGAGGGAAGTTTTGCAGACTGTTGAGTGGTGCATACATTTCCCGTGTGTGTGTGTGTGTGTGTGTGTGTGAGACACACCTCTCCTTAAGTTAGATTTCACGCGAATGAAACTCACT
|
benign
| 330,101 |
Does the genetic variant at chromosome X, position 17687730, impacting gene NHS (NHS actin remodeling regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
benign
|
TATGCCAATTGATTCTGAAATTTGGGATCACCTGCTGCAGAAAGGTGGACGTGGAGGAGTGAGGACTATAACCTTTTTGGCGTTCAAGGCCTCTAGAGTCTTGATGCCTGAGACCATCCCTAGGGAACTGTATAATACCAAAATAGGAAAAGTCTTCCAGTGTCATTGCTCCCAAACTATTTCATCCAGGCAGAATCACAGTTAAACCATTTTGCACAAAGCCAGAGAACAAATGCTTTATGAGGGTCGGGATTCCTGTGTGTTTTGTTCTGTGCTGTGTTCCAACACCTAGCACCATGCCTGAGACTAAGAGCTACTTGGGAATGTTCCATGGGTGGATGGATGTTTCCATTTTCAGCAGCGTCTTCCCTTCCCTCATGTTGCCCAACTCCTTTCACTCCTACAAGATCCCAAGGCATCATCAGAAGACATTTTGTGTTTCTCAAACCTGCCTGATGATAAAAATAACTTTTCATGTAATATAGATTACCAGGCCTTTCTTTTGGAAATTCTGATTCAAAGTCTAGGTTGATGCCCAGGAATCTGTGTTTTTGACAAGCACTTCTGATGAGCCTTTTCTTCAGATGAACATTAAGATAAATAGGAGGGGCTCAGGTTTTCCCCACACAAGAATTAAAGAGCCATGGCCACTTGACCTGGTTTCTGAGGGGCTGTCAAAAGTTACCACCCTAAGCCTCTGGTCAGCAGTGCTGAGGGAATGAGGGACTAGAAGAGTCTTCTGGTCTACCTCTTAGTCACCTTGGCCCAGCCCTGTATCCTGGCTCCCACCTTCCTGAAAAGACGAGCCTAAGGGAAGGGGTGCTCAGAAGCCCCTCTACTTCTAGGACTGCCCACCTGGCTTCTTGCCCATTCTTTCCACAGACATGCTTTCTGTTCTGTCCCTTCTCCCAGCTGTCATGAGCACATGAATTCATGGTCCTCTCTGTTGGGTTTGGTAACGACCTCTGCCCCATTGGGTAGGAGTTGACTTTTGCATGCAGGGAGAGCCTGATTTCTCAGTCAATCCCCCATTACTGAACCAGAGTGGAAAGAGATGAGACTGGGAGGTGGGGGGAGCAGGGTGGGCCCAGGACAGGAGTCTGGATCTGGATAGTGTGTCTGGAGGGTAAAGCAGACTGGGCCAGTTCATGCCATTCCCGAGGCTGACAGGCTACCCAGGTGCTTGTGAGGTCCTCTTTGCAGCCATTTCTTAGTAAAAATCCTCCTGGTTCCTAACATCTGCTTCCAGCAGAATTTCTGTTTAACTCATGGAGAGTTCCATCCTAGGATCCCTGTGTACATGAAGAAGATGAGAGTGAGTTAAATGCTGTGTTTGGGGGAAGGAAGCCTTCCTTCCTTGATCTCTTGGATGAGTTGCAAAAACTCATCTTGCATCTGCAGTTTCCCTCCCTTAATACTCATTACCTCTATGATGGTTTCTTTAATGCGTATGCTCACCCCTGGGTGAAACCAAGGAAGAGCAATGCTTTGAAAGATGACAGGCAATGGAGCCGGTAGGTGTAGGGCATGATAAGGATACCTTGGGGACGGGACCACAAGGGACAGAGGCAGGGCAAGGTATAGGCCGAAGTTCAGGTGGACAGCAGGGGCGGCGTGCAGAACTACAGCTCTGAGGCCCTGCGGCCAGAAGGCTGGAGCTGAGGCAGCCTTTCCATTCATCTCTGAGGCTTTCCTCCACATTTTTCAGAAACAGGACCCCCATCTCCACCCCCAAGCAGGCTAGCCAGGGGCTTGTCAGTGTTGATGAGCGACTGTGCCAAGGGTGAGGAATGAAGGTACGGAGAGGAAATTAGCTAGTCATAGGTAGACGGTTGGTGTCTTGGAGCCTCCCGTGCCTCGGCTCAGGGGCAAAAGTTGTCCCTATCAGTATCATAAATGCCAAACCTTTCTCCGGCCTTGAGTTAGTTCTTAATGTGAATGCAGTAGTCTGGACTTCCACTCCACCCAGACTTTACTCCTGTCCTCTTCCCCACCCCAGGGTTGGCCAAAAGCACAACTTAAAGCCACTGATGGACAACGCCCTGTTTCTTGTCTTGCAGCCGTCTCCAACCTGGACATAGAGAGTAAGCTGAGTGTGTACTACCGCGCCCCGTGGCACCAGCAGCGCAACATCTTCCTCCCAGCCACAAGGCCACCCTGCGTGGAGGAGCTGCACCGCCACGCCCGGCAGAGCCTGCAAGCCCTGCGCAGAGGTGACAGATCCTGGGCTTGGGGGCTTTTGCGGGAGACAACTCGGAGGTTGTCCCATCCAGGTGTCCTCTGTCCCATCAGCCCCAACACACCCCCTTATTATAGCAAGTACTTTGAAATGCTCCCGTTTCTACCCTGAAATGAAATCCATGGGTAATATGCCCAACCCATACACATAAGAAAAAATAATATTATGGTCTAAATATGATAATAAAGAGAAATTAAAAGGAAATTATTGATAATAATATCTATTTCAATATGCAAATGCTCAGGCATGACCTCACTAGAAGACATCATGAAGCAGTCAGATGTCTGCACTTGTCAAAAGCAAGTCTGGATTAAGTACAGACCTTCAGAAACTATTCCGAGGGGCAGGAGGGCATGACCATAAAAACTGGTACATTCAGTATATATTAGATATGGGCAAAAAATAAATACTTTGGATTAGAATGAAAAGGGAATTTGGCTTGACTCATAAATAGGCACTAGGTTTTTCCCCTATAAGAGATTCTGATGGAACATTTAAAATTGTGTGAGACCTGGGACACATTTTCATTGACCATCCTCTGCATTATGGGATGGCTGTCATCTTTGGCTCCCATCCAATCATTGTAACAATTAGAATGATCCCCTAGAGGGCTCTTCTGCTTCTCTTGAGAACCAGTGATCGGTCTAATGCCCCCATTCTTTAGTGGGACACGCGGAGGCCTAGAAAGGTGAGGAAACTTGCTCAGGGTCACACATAGCAGGTTAGGTGTGGTACCAGGACCCAACCTAAGCCTCTGAAATGCCTGCCAGAGCTCTTTTCCTCCTTGCCATACACTGTGTCTCATGGAAATAGGTACTGATGTTTACATGTCTCTCACAGTCCTGAGAAAGCTAGAGATAGGCTCATAGCAGTCAAAATAGGAATACAGTTTTTTCTTACACTGGTTGCTTTTCAGTGCCTTAAAACCATTCTAATTAGGACAAGGGGAATAAAAAGTAGCTTCATTGTTTTAGAGCCCCCTAAATTGGGTATCAGAAGGGGACATGTCAGCTTTTTTTGGCCTTTAGATTCTTGCTATGGAGATAGATGGTGTCTACACATTCAATGTCTTTCTTCCAAATTCCCTACACTCTTTTAAGAAATGGCATTTTGCAAAAGTATTAAAATGCAAGTAAAATATTTTAATGTCATTATCAAAGTGGAGAAACAAAATGGTGATATTGTTTTCATCTTATTTATTCCACATTTGTATAACTCCTGCCTTTTCCCCATCCTTATCTTCAATAGTTTGTTGCCTTCAATTATCATCTTTTTTCCCTCCTCATCTTTTTTCCCTTCCTCATCTTTTTTTCCTTTTAATGAAAGAGCTAACCTCCTAATATCCCTAAAGCAATTGTTTCTAAAAATTTTCCTTGGTTATTAGGGGAAGACATTGTGACACTTACAATGAAGAGTGATGATCAGTATCCTGTAGAAGCATCTTTGGCATACTTACCATTCACTTCAATTTTATAGTTGGCTAAGAAGTTCTTTTTTAACTTAAGCCACCTTCTGAAAATCTTTCTTTCCACACTTGCCATTCCTTTGCAGCCTGGATTAGGCACCCTTCCCATAATATCCTGTGCATCCTCCCATCCTGCCACTTAGAATCTTATAATCAACCACTATGGGCCTGTTTTACCAACCAACCACTAATAAGCCATTAATCTATGAGCAACTCAAGGGCAAGGATGATATCTTATTAATTTATTTTATTCAAAGCACTTAGCATGAAGCTGACATATAGTAGGTCCTCAATGAACATTTGTGGAACTGAATCAAGTTTTGCAAAAAACTGGTTGAACATTGAGGGCACAGGATGACTATAAAGGAATCTGATCGTTCTCACCAAATCCT
|
TATGCCAATTGATTCTGAAATTTGGGATCACCTGCTGCAGAAAGGTGGACGTGGAGGAGTGAGGACTATAACCTTTTTGGCGTTCAAGGCCTCTAGAGTCTTGATGCCTGAGACCATCCCTAGGGAACTGTATAATACCAAAATAGGAAAAGTCTTCCAGTGTCATTGCTCCCAAACTATTTCATCCAGGCAGAATCACAGTTAAACCATTTTGCACAAAGCCAGAGAACAAATGCTTTATGAGGGTCGGGATTCCTGTGTGTTTTGTTCTGTGCTGTGTTCCAACACCTAGCACCATGCCTGAGACTAAGAGCTACTTGGGAATGTTCCATGGGTGGATGGATGTTTCCATTTTCAGCAGCGTCTTCCCTTCCCTCATGTTGCCCAACTCCTTTCACTCCTACAAGATCCCAAGGCATCATCAGAAGACATTTTGTGTTTCTCAAACCTGCCTGATGATAAAAATAACTTTTCATGTAATATAGATTACCAGGCCTTTCTTTTGGAAATTCTGATTCAAAGTCTAGGTTGATGCCCAGGAATCTGTGTTTTTGACAAGCACTTCTGATGAGCCTTTTCTTCAGATGAACATTAAGATAAATAGGAGGGGCTCAGGTTTTCCCCACACAAGAATTAAAGAGCCATGGCCACTTGACCTGGTTTCTGAGGGGCTGTCAAAAGTTACCACCCTAAGCCTCTGGTCAGCAGTGCTGAGGGAATGAGGGACTAGAAGAGTCTTCTGGTCTACCTCTTAGTCACCTTGGCCCAGCCCTGTATCCTGGCTCCCACCTTCCTGAAAAGACGAGCCTAAGGGAAGGGGTGCTCAGAAGCCCCTCTACTTCTAGGACTGCCCACCTGGCTTCTTGCCCATTCTTTCCACAGACATGCTTTCTGTTCTGTCCCTTCTCCCAGCTGTCATGAGCACATGAATTCATGGTCCTCTCTGTTGGGTTTGGTAACGACCTCTGCCCCATTGGGTAGGAGTTGACTTTTGCATGCAGGGAGAGCCTGATTTCTCAGTCAATCCCCCATTACTGAACCAGAGTGGAAAGAGATGAGACTGGGAGGTGGGGGGAGCAGGGTGGGCCCAGGACAGGAGTCTGGATCTGGATAGTGTGTCTGGAGGGTAAAGCAGACTGGGCCAGTTCATGCCATTCCCGAGGCTGACAGGCTACCCAGGTGCTTGTGAGGTCCTCTTTGCAGCCATTTCTTAGTAAAAATCCTCCTGGTTCCTAACATCTGCTTCCAGCAGAATTTCTGTTTAACTCATGGAGAGTTCCATCCTAGGATCCCTGTGTACATGAAGAAGATGAGAGTGAGTTAAATGCTGTGTTTGGGGGAAGGAAGCCTTCCTTCCTTGATCTCTTGGATGAGTTGCAAAAACTCATCTTGCATCTGCAGTTTCCCTCCCTTAATACTCATTACCTCTATGATGGTTTCTTTAATGCGTATGCTCACCCCTGGGTGAAACCAAGGAAGAGCAATGCTTTGAAAGATGACAGGCAATGGAGCCGGTAGGTGTAGGGCATGATAAGGATACCTTGGGGACGGGACCACAAGGGACAGAGGCAGGGCAAGGTATAGGCCGAAGTTCAGGTGGACAGCAGGGGCGGCGTGCAGAACTACAGCTCTGAGGCCCTGCGGCCAGAAGGCTGGAGCTGAGGCAGCCTTTCCATTCATCTCTGAGGCTTTCCTCCACATTTTTCAGAAACAGGACCCCCATCTCCACCCCCAAGCAGGCTAGCCAGGGGCTTGTCAGTGTTGATGAGCGACTGTGCCAAGGGTGAGGAATGAAGGTACGGAGAGGAAATTAGCTAGTCATAGGTAGACGGTTGGTGTCTTGGAGCCTCCCGTGCCTCGGCTCAGGGGCAAAAGTTGTCCCTATCAGTATCATAAATGCCAAACCTTTCTCCGGCCTTGAGTTAGTTCTTAATGTGAATGCAGTAGTCTGGACTTCCACTCCACCCAGACTTTACTCCTGTCCTCTTCCCCACCCCAGGGTTGGCCAAAAGCACAACTTAAAGCCACTGATGGACAACGCCCTGTTTCTTTGTCTTGCAGCCGTCTCCAACCTGGACATAGAGAGTAAGCTGAGTGTGTACTACCGCGCCCCGTGGCACCAGCAGCGCAACATCTTCCTCCCAGCCACAAGGCCACCCTGCGTGGAGGAGCTGCACCGCCACGCCCGGCAGAGCCTGCAAGCCCTGCGCAGAGGTGACAGATCCTGGGCTTGGGGGCTTTTGCGGGAGACAACTCGGAGGTTGTCCCATCCAGGTGTCCTCTGTCCCATCAGCCCCAACACACCCCCTTATTATAGCAAGTACTTTGAAATGCTCCCGTTTCTACCCTGAAATGAAATCCATGGGTAATATGCCCAACCCATACACATAAGAAAAAATAATATTATGGTCTAAATATGATAATAAAGAGAAATTAAAAGGAAATTATTGATAATAATATCTATTTCAATATGCAAATGCTCAGGCATGACCTCACTAGAAGACATCATGAAGCAGTCAGATGTCTGCACTTGTCAAAAGCAAGTCTGGATTAAGTACAGACCTTCAGAAACTATTCCGAGGGGCAGGAGGGCATGACCATAAAAACTGGTACATTCAGTATATATTAGATATGGGCAAAAAATAAATACTTTGGATTAGAATGAAAAGGGAATTTGGCTTGACTCATAAATAGGCACTAGGTTTTTCCCCTATAAGAGATTCTGATGGAACATTTAAAATTGTGTGAGACCTGGGACACATTTTCATTGACCATCCTCTGCATTATGGGATGGCTGTCATCTTTGGCTCCCATCCAATCATTGTAACAATTAGAATGATCCCCTAGAGGGCTCTTCTGCTTCTCTTGAGAACCAGTGATCGGTCTAATGCCCCCATTCTTTAGTGGGACACGCGGAGGCCTAGAAAGGTGAGGAAACTTGCTCAGGGTCACACATAGCAGGTTAGGTGTGGTACCAGGACCCAACCTAAGCCTCTGAAATGCCTGCCAGAGCTCTTTTCCTCCTTGCCATACACTGTGTCTCATGGAAATAGGTACTGATGTTTACATGTCTCTCACAGTCCTGAGAAAGCTAGAGATAGGCTCATAGCAGTCAAAATAGGAATACAGTTTTTTCTTACACTGGTTGCTTTTCAGTGCCTTAAAACCATTCTAATTAGGACAAGGGGAATAAAAAGTAGCTTCATTGTTTTAGAGCCCCCTAAATTGGGTATCAGAAGGGGACATGTCAGCTTTTTTTGGCCTTTAGATTCTTGCTATGGAGATAGATGGTGTCTACACATTCAATGTCTTTCTTCCAAATTCCCTACACTCTTTTAAGAAATGGCATTTTGCAAAAGTATTAAAATGCAAGTAAAATATTTTAATGTCATTATCAAAGTGGAGAAACAAAATGGTGATATTGTTTTCATCTTATTTATTCCACATTTGTATAACTCCTGCCTTTTCCCCATCCTTATCTTCAATAGTTTGTTGCCTTCAATTATCATCTTTTTTCCCTCCTCATCTTTTTTCCCTTCCTCATCTTTTTTTCCTTTTAATGAAAGAGCTAACCTCCTAATATCCCTAAAGCAATTGTTTCTAAAAATTTTCCTTGGTTATTAGGGGAAGACATTGTGACACTTACAATGAAGAGTGATGATCAGTATCCTGTAGAAGCATCTTTGGCATACTTACCATTCACTTCAATTTTATAGTTGGCTAAGAAGTTCTTTTTTAACTTAAGCCACCTTCTGAAAATCTTTCTTTCCACACTTGCCATTCCTTTGCAGCCTGGATTAGGCACCCTTCCCATAATATCCTGTGCATCCTCCCATCCTGCCACTTAGAATCTTATAATCAACCACTATGGGCCTGTTTTACCAACCAACCACTAATAAGCCATTAATCTATGAGCAACTCAAGGGCAAGGATGATATCTTATTAATTTATTTTATTCAAAGCACTTAGCATGAAGCTGACATATAGTAGGTCCTCAATGAACATTTGTGGAACTGAATCAAGTTTTGCAAAAAACTGGTTGAACATTGAGGGCACAGGATGACTATAAAGGAATCTGATCGTTCTCACCAAATCC
|
benign
| 330,106 |
Is the genetic variant on chromosome X, position 17727758, gene NHS (NHS actin remodeling regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Nance-Horan_syndrome']
|
TGGGTGACCATGAAAGAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGCCTGGCCTGCTCTCAACATCTTCACAGCCCCCAGCACAAATTAAGTGAGAGGGGAAGGTCACGTCTGTCCCGAATGGCTGCTGACTCTGGCAGCTGTGACATCTCCTCCAACTCAGACACGTTTGGGAGCCCCATCCACTGCATCTCCACGGCTGGCGTCCTCCTTAGCAGCCACATGGACCAGAAAGATGACCACCAGTCATCCAGTGGCAACTGGAGTGGGAGCAGCTCCACGTGCCCCTCGCAGACCTCAGAAACCATCCCTCCTGCAGCTTCTCCTCCACTCACTGGCTCTTCACACTGTGACTCGGAGTTGTCACTAAACACAGCCCCTCATGCCAATGAGGATGCCAGTGTTTTCGTGACAGAGCAATACAATGACCACTTGGATAAAGTGAGAGGCCATCGGGCAAACTCCTTTACCTCCACTGTTGCAGACCTGCTGGATGATCCCAACAACAGCAACACAAGTGACAGTGAGTGGAATTACCTACACCACCACCATGATGCCTCCTGCCGCCAGGATTTTAGTCCTGAGCGTCCCAAGGCAGACAGCCTGGGCTGCCCAAGCTTCACAAGCATGGCCACTTATGACAGCTTTCTGGAAAAGTCTCCATCAGACAAAGCGGACACTAGCTCTCACTTTTCAGTAGACACGGAAGGATACTATACCTCCATGCACTTTGACTGTGGTCTCAAAGGTAATAAGAGCTATGTCTGTCACTATGCAGCCCTGGGCCCAGAGAATGGCCAGGGTGTAGGGGCTTCCCCTGGTCTTCCAGATTGTGCCTGGCAGGACTACTTAGACCACAAGAGGCAGGGAAGACCAAGCATCTCTTTCAGGAAACCAAAGGCAAAGCCGACCCCACCTAAACGTAGCTCATCATTGAGGAAGTCTGATGGAAACGCAGATATTTCTGAGAAGAAAGAACCAAAGATAAGCAGTGGTCAGCACCTGCCTCACAGTTCCAGGGAAATGAAGCTGCCTCTTGATTTCGCCAACACGCCTTCTCGAATGGAAAACGCCAATCTTCCCACCAAGCAGGAACCTTCTTGGATAAACCAGAGTGAACAAGGCATTAAGGAACCTCAGTTAGATGCTTCGGATATTCCACCATTCAAAGATGAAGTTGCCGAATCCACACACTATGCAGACCTCTGGCTCCTAAATGACTTGAAAACAAATGATCCTTATAGATCTCTATCTAATTCAAGCACCGCTACGGGTACCACAGTCATTGAATGCATCAAATCTCCAGAGAGCTCTGAATCCCAAACATCACAATCAGAATCAAGAGCCACCACCCCATCTCTTCCTTCTGTTGACAATGAGTTTAAACTGGCTTCACCAGAAAAGCTGGCTGGCTTGGCATCTCCATCAAGTGGCTATTCAAGCCAGTCTGAAACGCCAACATCCTCTTTCCCTACAGCTTTCTTTTCAGGTCCATTGTCTCCCGGAGGTAGCAAAAGAAAACCTAAAGTCCCAGAAAGAAAATCCTCACTACAGCAACCCTCTTTAAAAGATGGAACTATATCACTGAGTAAAGACCTTGAACTTCCAATTATACCTCCTACCCATCTTGATCTAAGTGCTCTTCATAATGTCTTGAACAAACCATTCCACCACCGTCATCCACTGCATGTTTTTACTCATAATAAGCAGAACACAGTAGGAGAAACACTGAGGTCGAATCCTCCACCGTCCCTTGCAATTACACCAACGATCCTGAAATCTGTTAACCTTAGGTCCATCAACAAGTCTGAAGAAGTTAAGCAAAAAGAAGAAAACAATACAGATCTCCCTTATTTAGAGGAAAGCACACTCACAACGGCTGCCTTGTCTCCAAGTAAGATTAGGCCGCATACAGCAAATAAATCAGTATCTCGTCAATACTCCACTGAAGACACCATACTGTCCTTTTTAGACTCTTCTGCAGTTGAGATGGGACCAGATAAACTACATTTAGAAAAAAACTCTACTTTTGATGTGAAGAATCGCTGCGATCCAGAAACCATAACATCAGCTGGTAGCAGTCTTCTAGATTCAAATGTCACAAAAGACCAAGTGCGTACAGAGACTGAGCCTATTCCAGAAAACACGCCAACCAAAAACTGTGCTTTTCCCACAGAAGGATTTCAGAGGGTCTCTGCTGCCCGCCCAAATGATTTGGATGGTAAAATAATACAATATGGACCTGGTCCAGACGAAACTCTAGAACAGGTACAGAAGGCACCCTCTGCAGGTCTGGAGGAAGTTGCACAACCTGAATCTGTGGATGTAATCACATCTCAGTCAGACTCACCAACTAGAGCAACAGATGTAAGCAATCAATTTAAGCATCAATTTGTTATGAGCCGCCACCATGACAAAGTGCCTGGTACTATCAGCTATGAATCGGAGATAACATCTGTAAATTCATTCCCTGAAAAATGTTCCAAGCAGGAAAATATTGCTTCAGGTATTTCAGCCAAAAGTGCCTCTGATAACAGCAAAGCAGAGGAGACCCAAGGAAATGTGGATGAGGCTTCATTGAAAGGTCAGTCACTGATAACTTTGTCATAAAGGAAATGTGTCTCATGGCACTTCCTGGAATTTTTTCTTATGTTCCCAATAATACGGTACAGCCCTGGGTGTTGGTTTCCCTCCACTATTTCTTTGCACTTATTAAAACAATTGAGATAAAAGCTTTTGTTACTGGGTGAGTAAGCTTTGACAGGTATCTCTCTCATTTTTAAAAAATGGCAGCAAGGTAATTTCTGTTTGTTTGTTTGTTTGTTTGTTTGTTCCCTGAGTCAGTGAAGTACAGTAGCGTGCTGGGTAACTTCCTCTTAAAGATTCTTCTGTTCTTATTTTAAGAATCATCACCGAGTGATGACTCCATCATTTCACCACTTAGTGAAGACTCCCAAGCTGAAGCAGAGGGTGTGTTCGTGTCTCCAAACAAACCTCGAACAACTGAGGATTTATTTGCAGTCATTCACAGGTGAGGCAACATTACCAAGTCCCCCAAAACAAAAGGTACAACAAAGGTTTTGCCCCTTCAGGTACTTCTCACAAATGCAAATACAGGAAAGCTTTTTGTAATTGTAATACATTCAGCAAAAACAAAAGCAAGCAAAGAATAATTTTTCCAAATCAAGTTGATAGACTGATATGCAAGTTGGGAAATAGGATCTTTATATAGAGTTTGATAGACCTCGATTGAGAGACTTTTGTAAGAGTGGCTTTATTTTTCCCCAGGAAAAGACATTCTGGAACAAGTTTTTATGTGAAAACAATCTGTGGTTAAGTGACTTGGAGTGAAAGCTCAAACTCTAGTGTAATCTCTGACTTTTGAATACTTTCTTGAACCTAAAAAATATGATCAAAGCTGTAGTCATACACCAGCAGAGACAAACAGAAGTTGATTCACCATGGATGCACCAAAATCTCAGAAATCACCACTAAAGAACTTATTCATGTAACCAAATACCACCTCTTCCCCCAAAACTTATTGAAATAAAAAATAAAAAACTCACATTGTACCCTATAACTATATACAATTATTTGTCAGCTTAAAATAAAATAAAACTTAGAGAACACACACACACACAAAGTTGATCACAAAACAGTCTCAAGTTTGAGAAAAGACAATACGTGTTCCTGTCCATTTTATAGCTCAGAACAAGTAATAATTTCTCTGTTTTTCTTTCTTCTTAGAACTTAAATTTCTTTAATAGTACTGGCCTTCATCCCCAAAATTAATGCCCATATTCCATGAATACAGGTCTTTTGGGTTGCTTTTCCAGGACAGTGTTGTGTCCATGCTGCAAAGGCATATTTCCTCATCTGCCCCCATGAGCCCTTGTGATCCATGGTCCATATTTGCAAAAATTATTCCTTATAGCTAATGACCAAAGAACAGAACAGGAACTAGCCCTTGGACACCTAATCTACATATAACTGAGCTAGCCAATCATGATTTGCCATGCCTCCTCCTTTCACAAACACAACTGTCTTCTTAGACCTCGGGA
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TGGGTGACCATGAAAGAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGCCTGGCCTGCTCTCAACATCTTCACAGCCCCCAGCACAAATTAAGTGAGAGGGGAAGGTCACGTCTGTCCCGAATGGCTGCTGACTCTGGCAGCTGTGACATCTCCTCCAACTCAGACACGTTTGGGAGCCCCATCCACTGCATCTCCACGGCTGGCGTCCTCCTTAGCAGCCACATGGACCAGAAAGATGACCACCAGTCATCCAGTGGCAACTGGAGTGGGAGCAGCTCCACGTGCCCCTCGCAGACCTCAGAAACCATCCCTCCTGCAGCTTCTCCTCCACTCACTGGCTCTTCACACTGTGACTCGGAGTTGTCACTAAACACAGCCCCTCATGCCAATGAGGATGCCAGTGTTTTCGTGACAGAGCAATACAATGACCACTTGGATAAAGTGAGAGGCCATCGGGCAAACTCCTTTACCTCCACTGTTGCAGACCTGCTGGATGATCCCAACAACAGCAACACAAGTGACAGTGAGTGGAATTACCTACACCACCACCATGATGCCTCCTGCCGCCAGGATTTTAGTCCTGAGCGTCCCAAGGCAGACAGCCTGGGCTGCCCAAGCTTCACAAGCATGGCCACTTATGACAGCTTTCTGGAAAAGTCTCCATCAGACAAAGCGGACACTAGCTCTCACTTTTCAGTAGACACGGAAGGATACTATACCTCCATGCACTTTGACTGTGGTCTCAAAGGTAATAAGAGCTATGTCTGTCACTATGCAGCCCTGGGCCCAGAGAATGGCCAGGGTGTAGGGGCTTCCCCTGGTCTTCCAGATTGTGCCTGGCAGGACTACTTAGACCACAAGAGGCAGGGAAGACCAAGCATCTCTTTCAGGAAACCAAAGGCAAAGCCGACCCCACCTAAACGTAGCTCATCATTGAGGAAGTCTGATGGAAACGCAGATATTTCTGAGAAGAAAGAACCAAAGATAAGCAGTGGTCAGCACCTGCCTCACAGTTCCAGGGAAATGAAGCTGCCTCTTGATTTCGCCAACACGCCTTCTCGAATGGAAAACGCCAATCTTCCCACCAAGCAGGAACCTTCTTGGATAAACCAGAGTGAACAAGGCATTAAGGAACCTCAGTTAGATGCTTCGGATATTCCACCATTCAAAGATGAAGTTGCCGAATCCACACACTATGCAGACCTCTGGCTCCTAAATGACTTGAAAACAAATGATCCTTATAGATCTCTATCTAATTCAAGCACCGCTACGGGTACCACAGTCATTGAATGCATCAAATCTCCAGAGAGCTCTGAATCCCAAACATCACAATCAGAATCAAGAGCCACCACCCCATCTCTTCCTTCTGTTGACAATGAGTTTAAACTGGCTTCACCAGAAAAGCTGGCTGGCTTGGCATCTCCATCAAGTGGCTATTCAAGCCAGTCTGAAACGCCAACATCCTCTTTCCCTACAGCTTTCTTTTCAGGTCCATTGTCTCCCGGAGGTAGCAAAAGAAAACCTAAAGTCCCAGAAAGAAAATCCTCACTACAGCAACCCTCTTTAAAAGATGGAACTATATCACTGAGTAAAGACCTTGAACTTCCAATTATACCTCCTACCCATCTTGATCTAAGTGCTCTTCATAATGTCTTGAACAAACCATTCCACCACCGTCATCCACTGCATGTTTTTACTCATAATAAGCAGAACACAGTAGGAGAAACACTGAGGTCGAATCCTCCACCGTCCCTTGCAATTACACCAACGATCCTGAAATCTGTTAACCTTAGGTCCATCAACAAGTCTGAAGAAGTTAAGCAAAAAGAAGAAAACAATACAGATCTCCCTTATTTAGAGGAAAGCACACTCACAACGGCTGCCTTGTCTCCAAGTAAGATTAGGCCGCATACAGCAAATAAATCAGTATCTCGTCAATACTCCACTGAAGACACCATACTGTCCTTTTTAGACTCTTCTGCAGTTGAGATGGGACCAGATAAACTACATTTAGAAAAAAAACTCTACTTTTGATGTGAAGAATCGCTGCGATCCAGAAACCATAACATCAGCTGGTAGCAGTCTTCTAGATTCAAATGTCACAAAAGACCAAGTGCGTACAGAGACTGAGCCTATTCCAGAAAACACGCCAACCAAAAACTGTGCTTTTCCCACAGAAGGATTTCAGAGGGTCTCTGCTGCCCGCCCAAATGATTTGGATGGTAAAATAATACAATATGGACCTGGTCCAGACGAAACTCTAGAACAGGTACAGAAGGCACCCTCTGCAGGTCTGGAGGAAGTTGCACAACCTGAATCTGTGGATGTAATCACATCTCAGTCAGACTCACCAACTAGAGCAACAGATGTAAGCAATCAATTTAAGCATCAATTTGTTATGAGCCGCCACCATGACAAAGTGCCTGGTACTATCAGCTATGAATCGGAGATAACATCTGTAAATTCATTCCCTGAAAAATGTTCCAAGCAGGAAAATATTGCTTCAGGTATTTCAGCCAAAAGTGCCTCTGATAACAGCAAAGCAGAGGAGACCCAAGGAAATGTGGATGAGGCTTCATTGAAAGGTCAGTCACTGATAACTTTGTCATAAAGGAAATGTGTCTCATGGCACTTCCTGGAATTTTTTCTTATGTTCCCAATAATACGGTACAGCCCTGGGTGTTGGTTTCCCTCCACTATTTCTTTGCACTTATTAAAACAATTGAGATAAAAGCTTTTGTTACTGGGTGAGTAAGCTTTGACAGGTATCTCTCTCATTTTTAAAAAATGGCAGCAAGGTAATTTCTGTTTGTTTGTTTGTTTGTTTGTTTGTTCCCTGAGTCAGTGAAGTACAGTAGCGTGCTGGGTAACTTCCTCTTAAAGATTCTTCTGTTCTTATTTTAAGAATCATCACCGAGTGATGACTCCATCATTTCACCACTTAGTGAAGACTCCCAAGCTGAAGCAGAGGGTGTGTTCGTGTCTCCAAACAAACCTCGAACAACTGAGGATTTATTTGCAGTCATTCACAGGTGAGGCAACATTACCAAGTCCCCCAAAACAAAAGGTACAACAAAGGTTTTGCCCCTTCAGGTACTTCTCACAAATGCAAATACAGGAAAGCTTTTTGTAATTGTAATACATTCAGCAAAAACAAAAGCAAGCAAAGAATAATTTTTCCAAATCAAGTTGATAGACTGATATGCAAGTTGGGAAATAGGATCTTTATATAGAGTTTGATAGACCTCGATTGAGAGACTTTTGTAAGAGTGGCTTTATTTTTCCCCAGGAAAAGACATTCTGGAACAAGTTTTTATGTGAAAACAATCTGTGGTTAAGTGACTTGGAGTGAAAGCTCAAACTCTAGTGTAATCTCTGACTTTTGAATACTTTCTTGAACCTAAAAAATATGATCAAAGCTGTAGTCATACACCAGCAGAGACAAACAGAAGTTGATTCACCATGGATGCACCAAAATCTCAGAAATCACCACTAAAGAACTTATTCATGTAACCAAATACCACCTCTTCCCCCAAAACTTATTGAAATAAAAAATAAAAAACTCACATTGTACCCTATAACTATATACAATTATTTGTCAGCTTAAAATAAAATAAAACTTAGAGAACACACACACACACAAAGTTGATCACAAAACAGTCTCAAGTTTGAGAAAAGACAATACGTGTTCCTGTCCATTTTATAGCTCAGAACAAGTAATAATTTCTCTGTTTTTCTTTCTTCTTAGAACTTAAATTTCTTTAATAGTACTGGCCTTCATCCCCAAAATTAATGCCCATATTCCATGAATACAGGTCTTTTGGGTTGCTTTTCCAGGACAGTGTTGTGTCCATGCTGCAAAGGCATATTTCCTCATCTGCCCCCATGAGCCCTTGTGATCCATGGTCCATATTTGCAAAAATTATTCCTTATAGCTAATGACCAAAGAACAGAACAGGAACTAGCCCTTGGACACCTAATCTACATATAACTGAGCTAGCCAATCATGATTTGCCATGCCTCCTCCTTTCACAAACACAACTGTCTTCTTAGACCTCGGG
|
pathogenic
| 330,150 |
Clinically, how would you classify the variant at chromosome X, position 18510818, gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2']
|
GTATTTTTGGCTAGGATATACATATAAAGTATATAACAATCTGTCACCAGGAACGGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACAAGGTCAAGAGATCCAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGTGAGCTTGTGCCACTGCACTCCAGCCTGATGAGAGAGCGAGACTGTCTCAAAACACACACACACACACACACACACACACACACACACAGGTTGCAGTGAGTGAGCTTGTGCCACTGCACTCCAGCCTGATGAGAGAGCGAGACTGTCTCAAAACACGCACACACACACACACACACACACACACACACACACACACACACACACACCCCTGTCAAGCAAACTCTGCATTCTTGTAGTTTAGACAGTGTATTTTTTACCCCATAGAATAACTGGCATAGGCAGTTAGAATTGGACAATTGCCTGGCAATTGTGGAGTTAAGTTAGATGGTTATAATGGCTGGTTCTATGCTAACTGTGATAATAGGATTCATCCATCTCTACCAAAGTGAGGGAGACTTGTTCAGGTCCCATAGACTGTGTTGGAGACACATTTCCCAATTTTGTATCCGTGAAGCCCCCTTCTCATAGATGAATGCAGGCTTGCCAGTCTGCTAATGTTAATGTTCTTGATGTTTCTGCAAAGCTCAGCTATCATTCATTACATTTTGATTCTCTTAATTAGATTTTTCACATTATAATTTTAACCTCAGTTTCCTGAGTACTTTGCTGTCAACTCTGTCCTACTTCTAAGGAAGAAGTCTATTGCCTAGATAATAGGATAAGTAACCCCAAAGGTAGTTACTTGTTGAAATACACCAAAGACAGTGGGAGTGCTTGTCGCCTTTGTGCATGAACTGAGTCTTTATTTATGGCAAAAGGTAGCAAATCCTACTAGCTATTAATTGGAATACTGAGGCCTGGACTACTTTGCCAGTCAGGAGAGACATTCAGCTGGGTGTGGTGGTGCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCATGTCTCTACAAAAAAAACTTAAAAAACAAAACAAAACAGAAAAAAAAAAAAAAAGAGGGGCATTTCAGTATCCTAGAGGAAGATTTTAATGTCTTCTAGAACAGATAATGTATTTGGTGGGCTCTGTGCTTGAGCTTACTACTGGGATGTCATTAGCTCTTAAGGTTTTTTTGTTTGTTTGTTTGTTTGTTTTCGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTGGACTACTGCAACCTCTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCAACTATACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAGGCTGGTCCTGAACTCCTGACCTCAGGTGATCTGCCAGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCTGGCCTAGCTCTTAAGTTTTAAGTTCCACAGAATCTTCTGAGTTAATTTTCCTTTATTCTCAAAGTTCTTGAGACCAAATCTTGTCTCCATAAATGTGTAACCCTACATTTAAACGTATCGCCAGTGAAATTTTCTTTAAAAAGAAACATTTAAAAATACTTGTTGGAAGAAATGACTTGTCTATACTCTTGATTTATAATAAATGTATAATAAAGTATGTTCCATTTGTATGTGGCTCATTATTGCATTATCACTATAGAATCTTGTCACTTTAGTAGTCATTATTATAACACTGAGAAGCAATGTCAGTATAGCAGAGCTTTGTAGTTTGTATGCGTGCCCTTGATTGTTTACTTCTTTTTATTATAGGAGCCTATGGAGTTGTACTTAAATGCAGACACAAGGCAAGTACATTATTTTTAAAAAGAAATATCTGTATATGTTTAACTGTTTTGAAACTAATGTAGTGGTCTTTGCGTGTGGGCATGTACAGGTTGAGCATTCCTTATCTGAAATGCTTGAGACCAGAAATGTTTTGGATTTTTTTGGATTTTGGAATATTTCCATATATGTAATGAGATACCTTGGGGATGGGACCCAAGGCTAGACACAAAATTCATTTATGTTTCATATATACTTAATACATATAGCTTGAAGGTAATTTTATGCAATATTTTAAGTTTTTGCCTAAAACAAAGTTTAAATACTTATATGTGGAATTTTCCACTTGTGGCATCATATCAGTACTCAAAGTTTTGGATTTTGGAGCATTTTGGATTTTTGAATTAGGGATGCTCAACCTGTAATTAAAACTCTGGTTATGAGGATGTTGTTTAATGAAGTGGAATTAATATGTGAATGCTGCCAGAAAGAGACTACTTTTAGATAAGCTTGATCATGGTTGGGTAGTCCTTAGTTCTTAGCAATCACGTGCTATTTTTTTTTTTCAACTGACCTATGCCGTGCACCTCATAATGACATTTAGATCAACAGTGGACAGCATGTATGATGGTGGTCCCGTAAGATTATGATATGGTATTTTTTGTTTAGATAAAAAACATTTTCAGATACACAAATACTTATCATTGACTATGGTACTCAGTAAGGTAACATGCTATACAGGTTTGTAGCCTTGAAACAATAGGCTATACCATGTAGCCTAGATGTGTAGTAGGCTATACCATCTAGGTTTGTGTAAGTACACTCTATGATGTTTGCACAGTGATAAAAATCACCTAATGACATATTTTTCAGAATGTATTCTTGTCATTAAGTGATGCATGACTGTATAAGTGAAAAGCTGCCTAATGGGAAAAGAGAAAAGGTGGTGGGACAGGAATAAGAAGGCAGGGCAGTGACAGATTTAATTTATGTTCAAGTACTTATGAGCAAAGAGTTTTTTTAAAAATTATTTTTCATGTAGACCCATTAACTTAGATTGCTTGATGCATTTGAATCCAGATTTTGAAGGGTAATAAGGTAGGTGTTTGGATATGAGCTAGAACTTGGGATAATAGTGTAGATTATGATTACTGGCTATAGTTGATTACCCTTGAACAGCTGTGAAATGAACCTTACTAGAAATTATTTTACTATGGTAATAATCACAAATTATTCAGAGAAGTTATTTGAAGTTTCCATAGCTGTTATTCAGTTGTAAGCATGTTTTACTGGGAGAGTAACTTTCAGATGGCAAGTGTTGAAACTGTAACAAACATTAGTTTAAATATTTTTCTATTATGGCATACCTAGTCTGAGTATTTGGCTTCATTTGCATATAATTTGTTAAGACCAAGGTTTTAAGTTTTTTCGTGATGTTTCAGAATGATATAATTTATGTCTGTGGTGATTTTAGCAATTTAACCCAAAACATTTAAACTCTTGAATCTGTCGTCTATTGAAAATAATGTATGTGTGTGTATGTATGTAAATATGCACACACATAAATAAAGATGATACTCTTATATTTGCTTTTTCTTTCCTATTGTACAAAATACTACCTGCCTTTTGAATTTAAGCCTTCGTGACACTTAATATATTTTTGTGTTTAGATCACAGATCTCTTACTTCCATGCAATGGCTTTTGTATTCTTCTTGAAATTGGGTGATTGAACTATTTTATGTTAATAATAGTTATCTGAAGATCTCTTTGCCATTAAATTTTCAAAAATGGTTCGAATACTATTGGTTCTTGATTAAGGATGATTAAGAATTTAAAATAATAAATATAATAAAAATAAATTTAGCACCTTGAACACCTTGTTAAGAAATATTACTGTAGTTTGAAATTAAACAAATGAAAAGCTCCCTAATAAAATGCTAAATGCTATACTTTTAATGACTTGCCTTTAGTTATAAGTTTCTGAAGCTTAAAAAAAATTCCTGGGTGGATATTACTTGGGAGAAATAGGTTAT
|
GTATTTTTGGCTAGGATATACATATAAAGTATATAACAATCTGTCACCAGGAACGGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACAAGGTCAAGAGATCCAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGTGAGCTTGTGCCACTGCACTCCAGCCTGATGAGAGAGCGAGACTGTCTCAAAACACACACACACACACACACACACACACACACACACAGGTTGCAGTGAGTGAGCTTGTGCCACTGCACTCCAGCCTGATGAGAGAGCGAGACTGTCTCAAAACACGCACACACACACACACACACACACACACACACACACACACACACACACACCCCTGTCAAGCAAACTCTGCATTCTTGTAGTTTAGACAGTGTATTTTTTACCCCATAGAATAACTGGCATAGGCAGTTAGAATTGGACAATTGCCTGGCAATTGTGGAGTTAAGTTAGATGGTTATAATGGCTGGTTCTATGCTAACTGTGATAATAGGATTCATCCATCTCTACCAAAGTGAGGGAGACTTGTTCAGGTCCCATAGACTGTGTTGGAGACACATTTCCCAATTTTGTATCCGTGAAGCCCCCTTCTCATAGATGAATGCAGGCTTGCCAGTCTGCTAATGTTAATGTTCTTGATGTTTCTGCAAAGCTCAGCTATCATTCATTACATTTTGATTCTCTTAATTAGATTTTTCACATTATAATTTTAACCTCAGTTTCCTGAGTACTTTGCTGTCAACTCTGTCCTACTTCTAAGGAAGAAGTCTATTGCCTAGATAATAGGATAAGTAACCCCAAAGGTAGTTACTTGTTGAAATACACCAAAGACAGTGGGAGTGCTTGTCGCCTTTGTGCATGAACTGAGTCTTTATTTATGGCAAAAGGTAGCAAATCCTACTAGCTATTAATTGGAATACTGAGGCCTGGACTACTTTGCCAGTCAGGAGAGACATTCAGCTGGGTGTGGTGGTGCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCATGTCTCTACAAAAAAAACTTAAAAAACAAAACAAAACAGAAAAAAAAAAAAAAAGAGGGGCATTTCAGTATCCTAGAGGAAGATTTTAATGTCTTCTAGAACAGATAATGTATTTGGTGGGCTCTGTGCTTGAGCTTACTACTGGGATGTCATTAGCTCTTAAGGTTTTTTTGTTTGTTTGTTTGTTTGTTTTCGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTGGACTACTGCAACCTCTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCAACTATACCCAACTAATTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAGGCTGGTCCTGAACTCCTGACCTCAGGTGATCTGCCAGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCTGGCCTAGCTCTTAAGTTTTAAGTTCCACAGAATCTTCTGAGTTAATTTTCCTTTATTCTCAAAGTTCTTGAGACCAAATCTTGTCTCCATAAATGTGTAACCCTACATTTAAACGTATCGCCAGTGAAATTTTCTTTAAAAAGAAACATTTAAAAATACTTGTTGGAAGAAATGACTTGTCTATACTCTTGATTTATAATAAATGTATAATAAAGTATGTTCCATTTGTATGTGGCTCATTATTGCATTATCACTATAGAATCTTGTCACTTTAGTAGTCATTATTATAACACTGAGAAGCAATGTCAGTATAGCAGAGCTTTGTAGTTTGTATGCGTGCCCTTGATTGTTTACTTCTTTTTATTATAGGGAGCCTATGGAGTTGTACTTAAATGCAGACACAAGGCAAGTACATTATTTTTAAAAAGAAATATCTGTATATGTTTAACTGTTTTGAAACTAATGTAGTGGTCTTTGCGTGTGGGCATGTACAGGTTGAGCATTCCTTATCTGAAATGCTTGAGACCAGAAATGTTTTGGATTTTTTTGGATTTTGGAATATTTCCATATATGTAATGAGATACCTTGGGGATGGGACCCAAGGCTAGACACAAAATTCATTTATGTTTCATATATACTTAATACATATAGCTTGAAGGTAATTTTATGCAATATTTTAAGTTTTTGCCTAAAACAAAGTTTAAATACTTATATGTGGAATTTTCCACTTGTGGCATCATATCAGTACTCAAAGTTTTGGATTTTGGAGCATTTTGGATTTTTGAATTAGGGATGCTCAACCTGTAATTAAAACTCTGGTTATGAGGATGTTGTTTAATGAAGTGGAATTAATATGTGAATGCTGCCAGAAAGAGACTACTTTTAGATAAGCTTGATCATGGTTGGGTAGTCCTTAGTTCTTAGCAATCACGTGCTATTTTTTTTTTTCAACTGACCTATGCCGTGCACCTCATAATGACATTTAGATCAACAGTGGACAGCATGTATGATGGTGGTCCCGTAAGATTATGATATGGTATTTTTTGTTTAGATAAAAAACATTTTCAGATACACAAATACTTATCATTGACTATGGTACTCAGTAAGGTAACATGCTATACAGGTTTGTAGCCTTGAAACAATAGGCTATACCATGTAGCCTAGATGTGTAGTAGGCTATACCATCTAGGTTTGTGTAAGTACACTCTATGATGTTTGCACAGTGATAAAAATCACCTAATGACATATTTTTCAGAATGTATTCTTGTCATTAAGTGATGCATGACTGTATAAGTGAAAAGCTGCCTAATGGGAAAAGAGAAAAGGTGGTGGGACAGGAATAAGAAGGCAGGGCAGTGACAGATTTAATTTATGTTCAAGTACTTATGAGCAAAGAGTTTTTTTAAAAATTATTTTTCATGTAGACCCATTAACTTAGATTGCTTGATGCATTTGAATCCAGATTTTGAAGGGTAATAAGGTAGGTGTTTGGATATGAGCTAGAACTTGGGATAATAGTGTAGATTATGATTACTGGCTATAGTTGATTACCCTTGAACAGCTGTGAAATGAACCTTACTAGAAATTATTTTACTATGGTAATAATCACAAATTATTCAGAGAAGTTATTTGAAGTTTCCATAGCTGTTATTCAGTTGTAAGCATGTTTTACTGGGAGAGTAACTTTCAGATGGCAAGTGTTGAAACTGTAACAAACATTAGTTTAAATATTTTTCTATTATGGCATACCTAGTCTGAGTATTTGGCTTCATTTGCATATAATTTGTTAAGACCAAGGTTTTAAGTTTTTTCGTGATGTTTCAGAATGATATAATTTATGTCTGTGGTGATTTTAGCAATTTAACCCAAAACATTTAAACTCTTGAATCTGTCGTCTATTGAAAATAATGTATGTGTGTGTATGTATGTAAATATGCACACACATAAATAAAGATGATACTCTTATATTTGCTTTTTCTTTCCTATTGTACAAAATACTACCTGCCTTTTGAATTTAAGCCTTCGTGACACTTAATATATTTTTGTGTTTAGATCACAGATCTCTTACTTCCATGCAATGGCTTTTGTATTCTTCTTGAAATTGGGTGATTGAACTATTTTATGTTAATAATAGTTATCTGAAGATCTCTTTGCCATTAAATTTTCAAAAATGGTTCGAATACTATTGGTTCTTGATTAAGGATGATTAAGAATTTAAAATAATAAATATAATAAAAATAAATTTAGCACCTTGAACACCTTGTTAAGAAATATTACTGTAGTTTGAAATTAAACAAATGAAAAGCTCCCTAATAAAATGCTAAATGCTATACTTTTAATGACTTGCCTTTAGTTATAAGTTTCTGAAGCTTAAAAAAAATTCCTGGGTGGATATTACTTGGGAGAAATAGGTTA
|
pathogenic
| 330,192 |
Gene mutation in CDKL5 (cyclin dependent kinase like 5) at chromosome X, position 18564526—is it benign or pathogenic? If pathogenic, specify the disease(s).
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benign
|
CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAGAGGATTTTCATGGTATTCTTGAAAGGATAAATAAAAGAATACACATTTTATTTGACCCCCATTAGCCATCTGCTTTATACAGTAAATTGTGTTTATGAGATGCCAGAGAAAAATAACTAATGAATTTATTCAAGGTGGTATAAATGTGCCAGTTACAAATTTAAATTTGTAGTCATATCAGTGGACAGTTTTGAACTGAGTAAGATCTTTTATAAAATCAGACAAAGTTTTAACGCTTAGGATGCAATGAAAGAAATGTATGTGGGAGTCTTTCAGTTAGAATAGAATATAAGATGGAACACTACCTGGAACAATATTCATTTGAGATGTGCGCAGTTTTTCTCTATTCCTGGAAGCTACATCTTTGTTCTGTGAGAAAAGCAAGAGGAGGTTCCTGATATGGTCTGTCCTTTCAGTTATGCTGTAGGTAGATTGCTAGCTAGAGCCATTTGAAAAGGAGCAGGGTAAGAACATGATATCAATGTATTATGGGAGAGTAGCATACATGAAAGAGTCACCTTTGTACTACGTGGGATAATATTCCAGCTGATAATCTCCTGCATTACTTAAAATTGGCAGTTCTTCCTTCCCAATAATAAAATACCTGGAAGAAGGAGTTTCTTTAAGTCAGAAGATCCATTAATGTACAAATAAGTTGTACCCTATACATACAAGTAAGTTGTCTCTACCCTACAATCCTGTTCCTTCATTAAAAACAAAAACACAGTACCTTTAAGAAGTATCTTTTTCCTCCATAATTTATAGCACTTGCCTGGTATTGTGTTTAATTTTAAAGTTTTTGTTTTGATGCAGGGACAACGTTTTATTAAATATTAAAAGATTTGATCTGAAAGTGTCCCCACTTAAAGTAAAAAAGAACAGGCCTGAGTCATTCAGAAGGCTTTTATATGACATGTTGGCTTTGAAGAATTTGTATTAATTATTTTGCCAAAAGCTTTTTTATTCCTTTTATAGACCAGAATTGAATAAAAATTGTTTAGTTTAGTGGTACTTAGTTCTTAGCATTTCCATTTCCTTTCCAGCCCTTGTTTTCTTTCCTCCCAACCAAAAACAACAAAAAAGATTTTCATATTTTCTTTTAAAGCAGAATTCTGTTATTTCTTCTGTTCAGAAGAGATAAGGGCAGGACGAAGGTGATGATTGGTATTTGGTGATGGAATGTTTATCTCACTTTGGATTTGCAGTGGCCATCAATAGGGGCGAGCTGGTGAAAATTAGATATGCTTGTTAGCATTCTGCTACCAGCAACTACTGTGTATTGGAGAGGCCCTTTCTTGGTCTTAGAAGGCCAATTAAAATGTGTCTCTGGACTTCAGAGGGCAGTACAGATGACAGTCTGACACTCATCCTGGCACTTTTGAGTATCCTCAAGACATTGACACTAATGATTTATGAGTTACGCATATTCTGTCACCATATCTGCTCTTTGCTCCACACCCTCTCCCTTTCTCCTTTCCCTTCCTTGACAATGTTTGTGGGGTGATAAGAAAGAGATTTTGGAACCAAGAAATGAGAGGTGGCGGGGGAGAGGAAGATGATATATTTTTAACACTCTGGCTTCTTGCTACTCTGTCCCAGAATATACCCCCAGGCAACTGGAATCCCCAGTCGGAAAAACACTGGAGAATGACTTTCCTTCTGCTTCTTTTCCCTTGCAGGAAACACATGAAATTGTGGCGATCAAGAAATTCAAGGACAGTGAAGGTAGATATATATATATATATATATATATCTGTATATATGTATTTTTCCTTCTGTATAAAGTTTTTATACATAGAGTGTGGAAGAAGTGGGATCTAGCTGGTCAGACACTGTCTATTCCTGATATTTTGAAGTCACAATCTCAGAAAGTGAATATAGCTTATTTCTTATGCTTTGCTTTCAAACATTTAGTTCCTTTTATGTGAATCTTTTCAAATCTCATGATATTAGAAAATTCATCTTTTTATTTTAAGGTTGCAAGCAGCATTGGAAATCTTGCTCCAAAGGCTGGTTAGAAGGCATGTTGTTTATGCTGTTTCTAAATATTATTAAAATAAAAAAACTGGCTTCAAGTAAATACTTCTGTGGGTCCACATAAATAGCAAGTACTACATGAAAGATTTCAGTATTGGTTACGGTGATCTCCAGCTCCTAGTCAGAGTTAGAAATACAAGGATATATTGAGGGATTGATTTTATATTTAGAATAATGCATTGAGAGAATAAAAGCTTTTTAAGAAGAAATACTATGCTTAGGGGCCTTCATCACATCCAGACCATTTCAGACAGAGTTGTAAAATTACCCCATGCTGGGCAAGAAAGTTTAAAATAATGCATTTCAGTAGTTCATTAGTTTTAAAATCTAGACTGTTGGCCATCCAAAGATAGCCAAATAGAGAAACTGATAACAAAAATAGGTATGGCCTTTAAGGTGCTCTAGACAACATTTTTTTCAGACTTTTTGGACTGAGACCCACAGTAGAAATATATTTCATATCCTAACCCAGTGTCCGCACACATATGTAACACTATATGTAAATGAAGCAAAAATGTCACGAACTTCATCTTATGAATGTGAAGCTCTCTACTTTCTGTTCTTTCCTGTTCATGTAAATGCCTATTGTGACATCAAATGGATTGATTTCACTACTAGTAAGTCAGAGCCTGCTATTTGAAAAACTATGGTCTAAGAGTAAGAAGTACCAACACAGCATCAATCTTCATATCTAATTAGAAGTGTGGAAATAGCAGTCATAGCTTACCTTCATCAGCACACATCCCCTAAGTGATGTAAGACACCAGCCTCTATATTTATGAACAGTTTCATCACCCTCACCTCAAAGACTTAGCAAACATTAAATAACAAAAAGGGACTTGCTCCAGGATAGATGTAGTAGTATTTGATGTAATCCATCTCTGATGTGCTAGTTATATGAAACACATGCATATCAGCTGGGAACTTTAGCAGTCATTGTATGGGCAGGCTTAAAGGGAAGGTAAAAAGTGGAAGGTAAAAAAGAACTTTTTGCTTGTTCTGGGGGGACAAAAAAATCTTGCTTCAAATGGGATATTTGTGGTCTAGCAGGAAGCAGTAGCTCCAGGCTATCCCACTGTGATACCATTGGAAATGAGCTCTTTGAGCAGTGACTTTGGGTCAGCAGGTGGCTGAGAGACAAATGGTGATTTCCTAAAAAGAATGGTTGCAACAGTAGATCAAAGCACAACCTTCGCATGCATGTAAAGGCTTCTGGCTGTGCATTCATCTTTCAGGGCATATTGGCAAGCATCAGTTACCACCAAAAATAATAACTGTCATCAAATTTTGTAAAAAGTACAATCTAGGCCATGTATGCCACCTTTTTTTGTTTATGAGACAGGGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACTCCCCGGGCTCAAGTGATTCTACAGCCACAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCGCCACCATGCCCAGCTAATTTTTTGTATTTTATTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCTTGTCCAGCCCCATTACTTTCTTTTTAAGTAAATACCATGTTCTTTATAATCTCTGTCTTGTGCATACCAATTCTTAGCTTCAATTATATATTTTTACCTGTGTTAATGATACCTTTAGAGTGGAAAT
|
CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAGAGGATTTTCATGGTATTCTTGAAAGGATAAATAAAAGAATACACATTTTATTTGACCCCCATTAGCCATCTGCTTTATACAGTAAATTGTGTTTATGAGATGCCAGAGAAAAATAACTAATGAATTTATTCAAGGTGGTATAAATGTGCCAGTTACAAATTTAAATTTGTAGTCATATCAGTGGACAGTTTTGAACTGAGTAAGATCTTTTATAAAATCAGACAAAGTTTTAACGCTTAGGATGCAATGAAAGAAATGTATGTGGGAGTCTTTCAGTTAGAATAGAATATAAGATGGAACACTACCTGGAACAATATTCATTTGAGATGTGCGCAGTTTTTCTCTATTCCTGGAAGCTACATCTTTGTTCTGTGAGAAAAGCAAGAGGAGGTTCCTGATATGGTCTGTCCTTTCAGTTATGCTGTAGGTAGATTGCTAGCTAGAGCCATTTGAAAAGGAGCAGGGTAAGAACATGATATCAATGTATTATGGGAGAGTAGCATACATGAAAGAGTCACCTTTGTACTACGTGGGATAATATTCCAGCTGATAATCTCCTGCATTACTTAAAATTGGCAGTTCTTCCTTCCCAATAATAAAATACCTGGAAGAAGGAGTTTCTTTAAGTCAGAAGATCCATTAATGTACAAATAAGTTGTACCCTATACATACAAGTAAGTTGTCTCTACCCTACAATCCTGTTCCTTCATTAAAAACAAAAACACAGTACCTTTAAGAAGTATCTTTTTCCTCCATAATTTATAGCACTTGCCTGGTATTGTGTTTAATTTTAAAGTTTTTGTTTTGATGCAGGGACAACGTTTTATTAAATATTAAAAGATTTGATCTGAAAGTGTCCCCACTTAAAGTAAAAAAGAACAGGCCTGAGTCATTCAGAAGGCTTTTATATGACATGTTGGCTTTGAAGAATTTGTATTAATTATTTTGCCAAAAGCTTTTTTATTCCTTTTATAGACCAGAATTGAATAAAAATTGTTTAGTTTAGTGGTACTTAGTTCTTAGCATTTCCATTTCCTTTCCAGCCCTTGTTTTCTTTCCTCCCAACCAAAAACAACAAAAAAGATTTTCATATTTTCTTTTAAAGCAGAATTCTGTTATTTCTTCTGTTCAGAAGAGATAAGGGCAGGACGAAGGTGATGATTGGTATTTGGTGATGGAATGTTTATCTCACTTTGGATTTGCAGTGGCCATCAATAGGGGCGAGCTGGTGAAAATTAGATATGCTTGTTAGCATTCTGCTACCAGCAACTACTGTGTATTGGAGAGGCCCTTTCTTGGTCTTAGAAGGCCAATTAAAATGTGTCTCTGGACTTCAGAGGGCAGTACAGATGACAGTCTGACACTCATCCTGGCACTTTTGAGTATCCTCAAGACATTGACACTAATGATTTATGAGTTACGCATATTCTGTCACCATATCTGCTCTTTGCTCCACACCCTCTCCCTTTCTCCTTTCCCTTCCTTGACAATGTTTGTGGGGTGATAAGAAAGAGATTTTGGAACCAAGAAATGAGAGGTGGCGGGGGAGAGGAAGATGATATATTTTTAACACTCTGGCTTCTTGCTACTCTGTCCCAGAATATACCCCCAGGCAACTGGAATCCCCAGTCGGAAAAACACTGGAGAATGACTTTCCTTCTGCTTCTTTTCCCTTGCAGGAAACACATGAAATTGTGGCGATCAAGAAATTCAAGGACAGTGAAGGTAGATATATATATATATATATATATATATCTGTATATATGTATTTTTCCTTCTGTATAAAGTTTTTATACATAGAGTGTGGAAGAAGTGGGATCTAGCTGGTCAGACACTGTCTATTCCTGATATTTTGAAGTCACAATCTCAGAAAGTGAATATAGCTTATTTCTTATGCTTTGCTTTCAAACATTTAGTTCCTTTTATGTGAATCTTTTCAAATCTCATGATATTAGAAAATTCATCTTTTTATTTTAAGGTTGCAAGCAGCATTGGAAATCTTGCTCCAAAGGCTGGTTAGAAGGCATGTTGTTTATGCTGTTTCTAAATATTATTAAAATAAAAAAACTGGCTTCAAGTAAATACTTCTGTGGGTCCACATAAATAGCAAGTACTACATGAAAGATTTCAGTATTGGTTACGGTGATCTCCAGCTCCTAGTCAGAGTTAGAAATACAAGGATATATTGAGGGATTGATTTTATATTTAGAATAATGCATTGAGAGAATAAAAGCTTTTTAAGAAGAAATACTATGCTTAGGGGCCTTCATCACATCCAGACCATTTCAGACAGAGTTGTAAAATTACCCCATGCTGGGCAAGAAAGTTTAAAATAATGCATTTCAGTAGTTCATTAGTTTTAAAATCTAGACTGTTGGCCATCCAAAGATAGCCAAATAGAGAAACTGATAACAAAAATAGGTATGGCCTTTAAGGTGCTCTAGACAACATTTTTTTCAGACTTTTTGGACTGAGACCCACAGTAGAAATATATTTCATATCCTAACCCAGTGTCCGCACACATATGTAACACTATATGTAAATGAAGCAAAAATGTCACGAACTTCATCTTATGAATGTGAAGCTCTCTACTTTCTGTTCTTTCCTGTTCATGTAAATGCCTATTGTGACATCAAATGGATTGATTTCACTACTAGTAAGTCAGAGCCTGCTATTTGAAAAACTATGGTCTAAGAGTAAGAAGTACCAACACAGCATCAATCTTCATATCTAATTAGAAGTGTGGAAATAGCAGTCATAGCTTACCTTCATCAGCACACATCCCCTAAGTGATGTAAGACACCAGCCTCTATATTTATGAACAGTTTCATCACCCTCACCTCAAAGACTTAGCAAACATTAAATAACAAAAAGGGACTTGCTCCAGGATAGATGTAGTAGTATTTGATGTAATCCATCTCTGATGTGCTAGTTATATGAAACACATGCATATCAGCTGGGAACTTTAGCAGTCATTGTATGGGCAGGCTTAAAGGGAAGGTAAAAAGTGGAAGGTAAAAAAGAACTTTTTGCTTGTTCTGGGGGGACAAAAAAATCTTGCTTCAAATGGGATATTTGTGGTCTAGCAGGAAGCAGTAGCTCCAGGCTATCCCACTGTGATACCATTGGAAATGAGCTCTTTGAGCAGTGACTTTGGGTCAGCAGGTGGCTGAGAGACAAATGGTGATTTCCTAAAAAGAATGGTTGCAACAGTAGATCAAAGCACAACCTTCGCATGCATGTAAAGGCTTCTGGCTGTGCATTCATCTTTCAGGGCATATTGGCAAGCATCAGTTACCACCAAAAATAATAACTGTCATCAAATTTTGTAAAAAGTACAATCTAGGCCATGTATGCCACCTTTTTTTGTTTATGAGACAGGGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACTCCCCGGGCTCAAGTGATTCTACAGCCACAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCGCCACCATGCCCAGCTAATTTTTTGTATTTTATTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCTTGTCCAGCCCCATTACTTTCTTTTTAAGTAAATACCATGTTCTTTATAATCTCTGTCTTGTGCATACCAATTCTTAGCTTCAATTATATATTTTTACCTGTGTTAATGATACCTTTAGAGTGGAA
|
benign
| 330,205 |
Variant at chromosome position 18564526, chromosome X, gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAGAGGATTTTCATGGTATTCTTGAAAGGATAAATAAAAGAATACACATTTTATTTGACCCCCATTAGCCATCTGCTTTATACAGTAAATTGTGTTTATGAGATGCCAGAGAAAAATAACTAATGAATTTATTCAAGGTGGTATAAATGTGCCAGTTACAAATTTAAATTTGTAGTCATATCAGTGGACAGTTTTGAACTGAGTAAGATCTTTTATAAAATCAGACAAAGTTTTAACGCTTAGGATGCAATGAAAGAAATGTATGTGGGAGTCTTTCAGTTAGAATAGAATATAAGATGGAACACTACCTGGAACAATATTCATTTGAGATGTGCGCAGTTTTTCTCTATTCCTGGAAGCTACATCTTTGTTCTGTGAGAAAAGCAAGAGGAGGTTCCTGATATGGTCTGTCCTTTCAGTTATGCTGTAGGTAGATTGCTAGCTAGAGCCATTTGAAAAGGAGCAGGGTAAGAACATGATATCAATGTATTATGGGAGAGTAGCATACATGAAAGAGTCACCTTTGTACTACGTGGGATAATATTCCAGCTGATAATCTCCTGCATTACTTAAAATTGGCAGTTCTTCCTTCCCAATAATAAAATACCTGGAAGAAGGAGTTTCTTTAAGTCAGAAGATCCATTAATGTACAAATAAGTTGTACCCTATACATACAAGTAAGTTGTCTCTACCCTACAATCCTGTTCCTTCATTAAAAACAAAAACACAGTACCTTTAAGAAGTATCTTTTTCCTCCATAATTTATAGCACTTGCCTGGTATTGTGTTTAATTTTAAAGTTTTTGTTTTGATGCAGGGACAACGTTTTATTAAATATTAAAAGATTTGATCTGAAAGTGTCCCCACTTAAAGTAAAAAAGAACAGGCCTGAGTCATTCAGAAGGCTTTTATATGACATGTTGGCTTTGAAGAATTTGTATTAATTATTTTGCCAAAAGCTTTTTTATTCCTTTTATAGACCAGAATTGAATAAAAATTGTTTAGTTTAGTGGTACTTAGTTCTTAGCATTTCCATTTCCTTTCCAGCCCTTGTTTTCTTTCCTCCCAACCAAAAACAACAAAAAAGATTTTCATATTTTCTTTTAAAGCAGAATTCTGTTATTTCTTCTGTTCAGAAGAGATAAGGGCAGGACGAAGGTGATGATTGGTATTTGGTGATGGAATGTTTATCTCACTTTGGATTTGCAGTGGCCATCAATAGGGGCGAGCTGGTGAAAATTAGATATGCTTGTTAGCATTCTGCTACCAGCAACTACTGTGTATTGGAGAGGCCCTTTCTTGGTCTTAGAAGGCCAATTAAAATGTGTCTCTGGACTTCAGAGGGCAGTACAGATGACAGTCTGACACTCATCCTGGCACTTTTGAGTATCCTCAAGACATTGACACTAATGATTTATGAGTTACGCATATTCTGTCACCATATCTGCTCTTTGCTCCACACCCTCTCCCTTTCTCCTTTCCCTTCCTTGACAATGTTTGTGGGGTGATAAGAAAGAGATTTTGGAACCAAGAAATGAGAGGTGGCGGGGGAGAGGAAGATGATATATTTTTAACACTCTGGCTTCTTGCTACTCTGTCCCAGAATATACCCCCAGGCAACTGGAATCCCCAGTCGGAAAAACACTGGAGAATGACTTTCCTTCTGCTTCTTTTCCCTTGCAGGAAACACATGAAATTGTGGCGATCAAGAAATTCAAGGACAGTGAAGGTAGATATATATATATATATATATATATCTGTATATATGTATTTTTCCTTCTGTATAAAGTTTTTATACATAGAGTGTGGAAGAAGTGGGATCTAGCTGGTCAGACACTGTCTATTCCTGATATTTTGAAGTCACAATCTCAGAAAGTGAATATAGCTTATTTCTTATGCTTTGCTTTCAAACATTTAGTTCCTTTTATGTGAATCTTTTCAAATCTCATGATATTAGAAAATTCATCTTTTTATTTTAAGGTTGCAAGCAGCATTGGAAATCTTGCTCCAAAGGCTGGTTAGAAGGCATGTTGTTTATGCTGTTTCTAAATATTATTAAAATAAAAAAACTGGCTTCAAGTAAATACTTCTGTGGGTCCACATAAATAGCAAGTACTACATGAAAGATTTCAGTATTGGTTACGGTGATCTCCAGCTCCTAGTCAGAGTTAGAAATACAAGGATATATTGAGGGATTGATTTTATATTTAGAATAATGCATTGAGAGAATAAAAGCTTTTTAAGAAGAAATACTATGCTTAGGGGCCTTCATCACATCCAGACCATTTCAGACAGAGTTGTAAAATTACCCCATGCTGGGCAAGAAAGTTTAAAATAATGCATTTCAGTAGTTCATTAGTTTTAAAATCTAGACTGTTGGCCATCCAAAGATAGCCAAATAGAGAAACTGATAACAAAAATAGGTATGGCCTTTAAGGTGCTCTAGACAACATTTTTTTCAGACTTTTTGGACTGAGACCCACAGTAGAAATATATTTCATATCCTAACCCAGTGTCCGCACACATATGTAACACTATATGTAAATGAAGCAAAAATGTCACGAACTTCATCTTATGAATGTGAAGCTCTCTACTTTCTGTTCTTTCCTGTTCATGTAAATGCCTATTGTGACATCAAATGGATTGATTTCACTACTAGTAAGTCAGAGCCTGCTATTTGAAAAACTATGGTCTAAGAGTAAGAAGTACCAACACAGCATCAATCTTCATATCTAATTAGAAGTGTGGAAATAGCAGTCATAGCTTACCTTCATCAGCACACATCCCCTAAGTGATGTAAGACACCAGCCTCTATATTTATGAACAGTTTCATCACCCTCACCTCAAAGACTTAGCAAACATTAAATAACAAAAAGGGACTTGCTCCAGGATAGATGTAGTAGTATTTGATGTAATCCATCTCTGATGTGCTAGTTATATGAAACACATGCATATCAGCTGGGAACTTTAGCAGTCATTGTATGGGCAGGCTTAAAGGGAAGGTAAAAAGTGGAAGGTAAAAAAGAACTTTTTGCTTGTTCTGGGGGGACAAAAAAATCTTGCTTCAAATGGGATATTTGTGGTCTAGCAGGAAGCAGTAGCTCCAGGCTATCCCACTGTGATACCATTGGAAATGAGCTCTTTGAGCAGTGACTTTGGGTCAGCAGGTGGCTGAGAGACAAATGGTGATTTCCTAAAAAGAATGGTTGCAACAGTAGATCAAAGCACAACCTTCGCATGCATGTAAAGGCTTCTGGCTGTGCATTCATCTTTCAGGGCATATTGGCAAGCATCAGTTACCACCAAAAATAATAACTGTCATCAAATTTTGTAAAAAGTACAATCTAGGCCATGTATGCCACCTTTTTTTGTTTATGAGACAGGGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACTCCCCGGGCTCAAGTGATTCTACAGCCACAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCGCCACCATGCCCAGCTAATTTTTTGTATTTTATTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCTTGTCCAGCCCCATTACTTTCTTTTTAAGTAAATACCATGTTCTTTATAATCTCTGTCTTGTGCATACCAATTCTTAGCTTCAATTATATATTTTTACCTGTGTTAATGATACCTTTAGAGTGGAAAT
|
CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAGAGGATTTTCATGGTATTCTTGAAAGGATAAATAAAAGAATACACATTTTATTTGACCCCCATTAGCCATCTGCTTTATACAGTAAATTGTGTTTATGAGATGCCAGAGAAAAATAACTAATGAATTTATTCAAGGTGGTATAAATGTGCCAGTTACAAATTTAAATTTGTAGTCATATCAGTGGACAGTTTTGAACTGAGTAAGATCTTTTATAAAATCAGACAAAGTTTTAACGCTTAGGATGCAATGAAAGAAATGTATGTGGGAGTCTTTCAGTTAGAATAGAATATAAGATGGAACACTACCTGGAACAATATTCATTTGAGATGTGCGCAGTTTTTCTCTATTCCTGGAAGCTACATCTTTGTTCTGTGAGAAAAGCAAGAGGAGGTTCCTGATATGGTCTGTCCTTTCAGTTATGCTGTAGGTAGATTGCTAGCTAGAGCCATTTGAAAAGGAGCAGGGTAAGAACATGATATCAATGTATTATGGGAGAGTAGCATACATGAAAGAGTCACCTTTGTACTACGTGGGATAATATTCCAGCTGATAATCTCCTGCATTACTTAAAATTGGCAGTTCTTCCTTCCCAATAATAAAATACCTGGAAGAAGGAGTTTCTTTAAGTCAGAAGATCCATTAATGTACAAATAAGTTGTACCCTATACATACAAGTAAGTTGTCTCTACCCTACAATCCTGTTCCTTCATTAAAAACAAAAACACAGTACCTTTAAGAAGTATCTTTTTCCTCCATAATTTATAGCACTTGCCTGGTATTGTGTTTAATTTTAAAGTTTTTGTTTTGATGCAGGGACAACGTTTTATTAAATATTAAAAGATTTGATCTGAAAGTGTCCCCACTTAAAGTAAAAAAGAACAGGCCTGAGTCATTCAGAAGGCTTTTATATGACATGTTGGCTTTGAAGAATTTGTATTAATTATTTTGCCAAAAGCTTTTTTATTCCTTTTATAGACCAGAATTGAATAAAAATTGTTTAGTTTAGTGGTACTTAGTTCTTAGCATTTCCATTTCCTTTCCAGCCCTTGTTTTCTTTCCTCCCAACCAAAAACAACAAAAAAGATTTTCATATTTTCTTTTAAAGCAGAATTCTGTTATTTCTTCTGTTCAGAAGAGATAAGGGCAGGACGAAGGTGATGATTGGTATTTGGTGATGGAATGTTTATCTCACTTTGGATTTGCAGTGGCCATCAATAGGGGCGAGCTGGTGAAAATTAGATATGCTTGTTAGCATTCTGCTACCAGCAACTACTGTGTATTGGAGAGGCCCTTTCTTGGTCTTAGAAGGCCAATTAAAATGTGTCTCTGGACTTCAGAGGGCAGTACAGATGACAGTCTGACACTCATCCTGGCACTTTTGAGTATCCTCAAGACATTGACACTAATGATTTATGAGTTACGCATATTCTGTCACCATATCTGCTCTTTGCTCCACACCCTCTCCCTTTCTCCTTTCCCTTCCTTGACAATGTTTGTGGGGTGATAAGAAAGAGATTTTGGAACCAAGAAATGAGAGGTGGCGGGGGAGAGGAAGATGATATATTTTTAACACTCTGGCTTCTTGCTACTCTGTCCCAGAATATACCCCCAGGCAACTGGAATCCCCAGTCGGAAAAACACTGGAGAATGACTTTCCTTCTGCTTCTTTTCCCTTGCAGGAAACACATGAAATTGTGGCGATCAAGAAATTCAAGGACAGTGAAGGTAGATATATATATATATATATATATCTGTATATATGTATTTTTCCTTCTGTATAAAGTTTTTATACATAGAGTGTGGAAGAAGTGGGATCTAGCTGGTCAGACACTGTCTATTCCTGATATTTTGAAGTCACAATCTCAGAAAGTGAATATAGCTTATTTCTTATGCTTTGCTTTCAAACATTTAGTTCCTTTTATGTGAATCTTTTCAAATCTCATGATATTAGAAAATTCATCTTTTTATTTTAAGGTTGCAAGCAGCATTGGAAATCTTGCTCCAAAGGCTGGTTAGAAGGCATGTTGTTTATGCTGTTTCTAAATATTATTAAAATAAAAAAACTGGCTTCAAGTAAATACTTCTGTGGGTCCACATAAATAGCAAGTACTACATGAAAGATTTCAGTATTGGTTACGGTGATCTCCAGCTCCTAGTCAGAGTTAGAAATACAAGGATATATTGAGGGATTGATTTTATATTTAGAATAATGCATTGAGAGAATAAAAGCTTTTTAAGAAGAAATACTATGCTTAGGGGCCTTCATCACATCCAGACCATTTCAGACAGAGTTGTAAAATTACCCCATGCTGGGCAAGAAAGTTTAAAATAATGCATTTCAGTAGTTCATTAGTTTTAAAATCTAGACTGTTGGCCATCCAAAGATAGCCAAATAGAGAAACTGATAACAAAAATAGGTATGGCCTTTAAGGTGCTCTAGACAACATTTTTTTCAGACTTTTTGGACTGAGACCCACAGTAGAAATATATTTCATATCCTAACCCAGTGTCCGCACACATATGTAACACTATATGTAAATGAAGCAAAAATGTCACGAACTTCATCTTATGAATGTGAAGCTCTCTACTTTCTGTTCTTTCCTGTTCATGTAAATGCCTATTGTGACATCAAATGGATTGATTTCACTACTAGTAAGTCAGAGCCTGCTATTTGAAAAACTATGGTCTAAGAGTAAGAAGTACCAACACAGCATCAATCTTCATATCTAATTAGAAGTGTGGAAATAGCAGTCATAGCTTACCTTCATCAGCACACATCCCCTAAGTGATGTAAGACACCAGCCTCTATATTTATGAACAGTTTCATCACCCTCACCTCAAAGACTTAGCAAACATTAAATAACAAAAAGGGACTTGCTCCAGGATAGATGTAGTAGTATTTGATGTAATCCATCTCTGATGTGCTAGTTATATGAAACACATGCATATCAGCTGGGAACTTTAGCAGTCATTGTATGGGCAGGCTTAAAGGGAAGGTAAAAAGTGGAAGGTAAAAAAGAACTTTTTGCTTGTTCTGGGGGGACAAAAAAATCTTGCTTCAAATGGGATATTTGTGGTCTAGCAGGAAGCAGTAGCTCCAGGCTATCCCACTGTGATACCATTGGAAATGAGCTCTTTGAGCAGTGACTTTGGGTCAGCAGGTGGCTGAGAGACAAATGGTGATTTCCTAAAAAGAATGGTTGCAACAGTAGATCAAAGCACAACCTTCGCATGCATGTAAAGGCTTCTGGCTGTGCATTCATCTTTCAGGGCATATTGGCAAGCATCAGTTACCACCAAAAATAATAACTGTCATCAAATTTTGTAAAAAGTACAATCTAGGCCATGTATGCCACCTTTTTTTGTTTATGAGACAGGGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACTCCCCGGGCTCAAGTGATTCTACAGCCACAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCGCCACCATGCCCAGCTAATTTTTTGTATTTTATTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCTTGTCCAGCCCCATTACTTTCTTTTTAAGTAAATACCATGTTCTTTATAATCTCTGTCTTGTGCATACCAATTCTTAGCTTCAATTATATATTTTTACCTGTGTTAATGATACCTTTAGAGTGGAAATNN
|
benign
| 330,206 |
Is the genetic mutation found on chromosome X at position 18564526, within the gene CDKL5 (cyclin dependent kinase like 5), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAGAGGATTTTCATGGTATTCTTGAAAGGATAAATAAAAGAATACACATTTTATTTGACCCCCATTAGCCATCTGCTTTATACAGTAAATTGTGTTTATGAGATGCCAGAGAAAAATAACTAATGAATTTATTCAAGGTGGTATAAATGTGCCAGTTACAAATTTAAATTTGTAGTCATATCAGTGGACAGTTTTGAACTGAGTAAGATCTTTTATAAAATCAGACAAAGTTTTAACGCTTAGGATGCAATGAAAGAAATGTATGTGGGAGTCTTTCAGTTAGAATAGAATATAAGATGGAACACTACCTGGAACAATATTCATTTGAGATGTGCGCAGTTTTTCTCTATTCCTGGAAGCTACATCTTTGTTCTGTGAGAAAAGCAAGAGGAGGTTCCTGATATGGTCTGTCCTTTCAGTTATGCTGTAGGTAGATTGCTAGCTAGAGCCATTTGAAAAGGAGCAGGGTAAGAACATGATATCAATGTATTATGGGAGAGTAGCATACATGAAAGAGTCACCTTTGTACTACGTGGGATAATATTCCAGCTGATAATCTCCTGCATTACTTAAAATTGGCAGTTCTTCCTTCCCAATAATAAAATACCTGGAAGAAGGAGTTTCTTTAAGTCAGAAGATCCATTAATGTACAAATAAGTTGTACCCTATACATACAAGTAAGTTGTCTCTACCCTACAATCCTGTTCCTTCATTAAAAACAAAAACACAGTACCTTTAAGAAGTATCTTTTTCCTCCATAATTTATAGCACTTGCCTGGTATTGTGTTTAATTTTAAAGTTTTTGTTTTGATGCAGGGACAACGTTTTATTAAATATTAAAAGATTTGATCTGAAAGTGTCCCCACTTAAAGTAAAAAAGAACAGGCCTGAGTCATTCAGAAGGCTTTTATATGACATGTTGGCTTTGAAGAATTTGTATTAATTATTTTGCCAAAAGCTTTTTTATTCCTTTTATAGACCAGAATTGAATAAAAATTGTTTAGTTTAGTGGTACTTAGTTCTTAGCATTTCCATTTCCTTTCCAGCCCTTGTTTTCTTTCCTCCCAACCAAAAACAACAAAAAAGATTTTCATATTTTCTTTTAAAGCAGAATTCTGTTATTTCTTCTGTTCAGAAGAGATAAGGGCAGGACGAAGGTGATGATTGGTATTTGGTGATGGAATGTTTATCTCACTTTGGATTTGCAGTGGCCATCAATAGGGGCGAGCTGGTGAAAATTAGATATGCTTGTTAGCATTCTGCTACCAGCAACTACTGTGTATTGGAGAGGCCCTTTCTTGGTCTTAGAAGGCCAATTAAAATGTGTCTCTGGACTTCAGAGGGCAGTACAGATGACAGTCTGACACTCATCCTGGCACTTTTGAGTATCCTCAAGACATTGACACTAATGATTTATGAGTTACGCATATTCTGTCACCATATCTGCTCTTTGCTCCACACCCTCTCCCTTTCTCCTTTCCCTTCCTTGACAATGTTTGTGGGGTGATAAGAAAGAGATTTTGGAACCAAGAAATGAGAGGTGGCGGGGGAGAGGAAGATGATATATTTTTAACACTCTGGCTTCTTGCTACTCTGTCCCAGAATATACCCCCAGGCAACTGGAATCCCCAGTCGGAAAAACACTGGAGAATGACTTTCCTTCTGCTTCTTTTCCCTTGCAGGAAACACATGAAATTGTGGCGATCAAGAAATTCAAGGACAGTGAAGGTAGATATATATATATATATATATATATCTGTATATATGTATTTTTCCTTCTGTATAAAGTTTTTATACATAGAGTGTGGAAGAAGTGGGATCTAGCTGGTCAGACACTGTCTATTCCTGATATTTTGAAGTCACAATCTCAGAAAGTGAATATAGCTTATTTCTTATGCTTTGCTTTCAAACATTTAGTTCCTTTTATGTGAATCTTTTCAAATCTCATGATATTAGAAAATTCATCTTTTTATTTTAAGGTTGCAAGCAGCATTGGAAATCTTGCTCCAAAGGCTGGTTAGAAGGCATGTTGTTTATGCTGTTTCTAAATATTATTAAAATAAAAAAACTGGCTTCAAGTAAATACTTCTGTGGGTCCACATAAATAGCAAGTACTACATGAAAGATTTCAGTATTGGTTACGGTGATCTCCAGCTCCTAGTCAGAGTTAGAAATACAAGGATATATTGAGGGATTGATTTTATATTTAGAATAATGCATTGAGAGAATAAAAGCTTTTTAAGAAGAAATACTATGCTTAGGGGCCTTCATCACATCCAGACCATTTCAGACAGAGTTGTAAAATTACCCCATGCTGGGCAAGAAAGTTTAAAATAATGCATTTCAGTAGTTCATTAGTTTTAAAATCTAGACTGTTGGCCATCCAAAGATAGCCAAATAGAGAAACTGATAACAAAAATAGGTATGGCCTTTAAGGTGCTCTAGACAACATTTTTTTCAGACTTTTTGGACTGAGACCCACAGTAGAAATATATTTCATATCCTAACCCAGTGTCCGCACACATATGTAACACTATATGTAAATGAAGCAAAAATGTCACGAACTTCATCTTATGAATGTGAAGCTCTCTACTTTCTGTTCTTTCCTGTTCATGTAAATGCCTATTGTGACATCAAATGGATTGATTTCACTACTAGTAAGTCAGAGCCTGCTATTTGAAAAACTATGGTCTAAGAGTAAGAAGTACCAACACAGCATCAATCTTCATATCTAATTAGAAGTGTGGAAATAGCAGTCATAGCTTACCTTCATCAGCACACATCCCCTAAGTGATGTAAGACACCAGCCTCTATATTTATGAACAGTTTCATCACCCTCACCTCAAAGACTTAGCAAACATTAAATAACAAAAAGGGACTTGCTCCAGGATAGATGTAGTAGTATTTGATGTAATCCATCTCTGATGTGCTAGTTATATGAAACACATGCATATCAGCTGGGAACTTTAGCAGTCATTGTATGGGCAGGCTTAAAGGGAAGGTAAAAAGTGGAAGGTAAAAAAGAACTTTTTGCTTGTTCTGGGGGGACAAAAAAATCTTGCTTCAAATGGGATATTTGTGGTCTAGCAGGAAGCAGTAGCTCCAGGCTATCCCACTGTGATACCATTGGAAATGAGCTCTTTGAGCAGTGACTTTGGGTCAGCAGGTGGCTGAGAGACAAATGGTGATTTCCTAAAAAGAATGGTTGCAACAGTAGATCAAAGCACAACCTTCGCATGCATGTAAAGGCTTCTGGCTGTGCATTCATCTTTCAGGGCATATTGGCAAGCATCAGTTACCACCAAAAATAATAACTGTCATCAAATTTTGTAAAAAGTACAATCTAGGCCATGTATGCCACCTTTTTTTGTTTATGAGACAGGGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACTCCCCGGGCTCAAGTGATTCTACAGCCACAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCGCCACCATGCCCAGCTAATTTTTTGTATTTTATTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCTTGTCCAGCCCCATTACTTTCTTTTTAAGTAAATACCATGTTCTTTATAATCTCTGTCTTGTGCATACCAATTCTTAGCTTCAATTATATATTTTTACCTGTGTTAATGATACCTTTAGAGTGGAAAT
|
CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAGAGGATTTTCATGGTATTCTTGAAAGGATAAATAAAAGAATACACATTTTATTTGACCCCCATTAGCCATCTGCTTTATACAGTAAATTGTGTTTATGAGATGCCAGAGAAAAATAACTAATGAATTTATTCAAGGTGGTATAAATGTGCCAGTTACAAATTTAAATTTGTAGTCATATCAGTGGACAGTTTTGAACTGAGTAAGATCTTTTATAAAATCAGACAAAGTTTTAACGCTTAGGATGCAATGAAAGAAATGTATGTGGGAGTCTTTCAGTTAGAATAGAATATAAGATGGAACACTACCTGGAACAATATTCATTTGAGATGTGCGCAGTTTTTCTCTATTCCTGGAAGCTACATCTTTGTTCTGTGAGAAAAGCAAGAGGAGGTTCCTGATATGGTCTGTCCTTTCAGTTATGCTGTAGGTAGATTGCTAGCTAGAGCCATTTGAAAAGGAGCAGGGTAAGAACATGATATCAATGTATTATGGGAGAGTAGCATACATGAAAGAGTCACCTTTGTACTACGTGGGATAATATTCCAGCTGATAATCTCCTGCATTACTTAAAATTGGCAGTTCTTCCTTCCCAATAATAAAATACCTGGAAGAAGGAGTTTCTTTAAGTCAGAAGATCCATTAATGTACAAATAAGTTGTACCCTATACATACAAGTAAGTTGTCTCTACCCTACAATCCTGTTCCTTCATTAAAAACAAAAACACAGTACCTTTAAGAAGTATCTTTTTCCTCCATAATTTATAGCACTTGCCTGGTATTGTGTTTAATTTTAAAGTTTTTGTTTTGATGCAGGGACAACGTTTTATTAAATATTAAAAGATTTGATCTGAAAGTGTCCCCACTTAAAGTAAAAAAGAACAGGCCTGAGTCATTCAGAAGGCTTTTATATGACATGTTGGCTTTGAAGAATTTGTATTAATTATTTTGCCAAAAGCTTTTTTATTCCTTTTATAGACCAGAATTGAATAAAAATTGTTTAGTTTAGTGGTACTTAGTTCTTAGCATTTCCATTTCCTTTCCAGCCCTTGTTTTCTTTCCTCCCAACCAAAAACAACAAAAAAGATTTTCATATTTTCTTTTAAAGCAGAATTCTGTTATTTCTTCTGTTCAGAAGAGATAAGGGCAGGACGAAGGTGATGATTGGTATTTGGTGATGGAATGTTTATCTCACTTTGGATTTGCAGTGGCCATCAATAGGGGCGAGCTGGTGAAAATTAGATATGCTTGTTAGCATTCTGCTACCAGCAACTACTGTGTATTGGAGAGGCCCTTTCTTGGTCTTAGAAGGCCAATTAAAATGTGTCTCTGGACTTCAGAGGGCAGTACAGATGACAGTCTGACACTCATCCTGGCACTTTTGAGTATCCTCAAGACATTGACACTAATGATTTATGAGTTACGCATATTCTGTCACCATATCTGCTCTTTGCTCCACACCCTCTCCCTTTCTCCTTTCCCTTCCTTGACAATGTTTGTGGGGTGATAAGAAAGAGATTTTGGAACCAAGAAATGAGAGGTGGCGGGGGAGAGGAAGATGATATATTTTTAACACTCTGGCTTCTTGCTACTCTGTCCCAGAATATACCCCCAGGCAACTGGAATCCCCAGTCGGAAAAACACTGGAGAATGACTTTCCTTCTGCTTCTTTTCCCTTGCAGGAAACACATGAAATTGTGGCGATCAAGAAATTCAAGGACAGTGAAGGTAGATATATATATATCTGTATATATGTATTTTTCCTTCTGTATAAAGTTTTTATACATAGAGTGTGGAAGAAGTGGGATCTAGCTGGTCAGACACTGTCTATTCCTGATATTTTGAAGTCACAATCTCAGAAAGTGAATATAGCTTATTTCTTATGCTTTGCTTTCAAACATTTAGTTCCTTTTATGTGAATCTTTTCAAATCTCATGATATTAGAAAATTCATCTTTTTATTTTAAGGTTGCAAGCAGCATTGGAAATCTTGCTCCAAAGGCTGGTTAGAAGGCATGTTGTTTATGCTGTTTCTAAATATTATTAAAATAAAAAAACTGGCTTCAAGTAAATACTTCTGTGGGTCCACATAAATAGCAAGTACTACATGAAAGATTTCAGTATTGGTTACGGTGATCTCCAGCTCCTAGTCAGAGTTAGAAATACAAGGATATATTGAGGGATTGATTTTATATTTAGAATAATGCATTGAGAGAATAAAAGCTTTTTAAGAAGAAATACTATGCTTAGGGGCCTTCATCACATCCAGACCATTTCAGACAGAGTTGTAAAATTACCCCATGCTGGGCAAGAAAGTTTAAAATAATGCATTTCAGTAGTTCATTAGTTTTAAAATCTAGACTGTTGGCCATCCAAAGATAGCCAAATAGAGAAACTGATAACAAAAATAGGTATGGCCTTTAAGGTGCTCTAGACAACATTTTTTTCAGACTTTTTGGACTGAGACCCACAGTAGAAATATATTTCATATCCTAACCCAGTGTCCGCACACATATGTAACACTATATGTAAATGAAGCAAAAATGTCACGAACTTCATCTTATGAATGTGAAGCTCTCTACTTTCTGTTCTTTCCTGTTCATGTAAATGCCTATTGTGACATCAAATGGATTGATTTCACTACTAGTAAGTCAGAGCCTGCTATTTGAAAAACTATGGTCTAAGAGTAAGAAGTACCAACACAGCATCAATCTTCATATCTAATTAGAAGTGTGGAAATAGCAGTCATAGCTTACCTTCATCAGCACACATCCCCTAAGTGATGTAAGACACCAGCCTCTATATTTATGAACAGTTTCATCACCCTCACCTCAAAGACTTAGCAAACATTAAATAACAAAAAGGGACTTGCTCCAGGATAGATGTAGTAGTATTTGATGTAATCCATCTCTGATGTGCTAGTTATATGAAACACATGCATATCAGCTGGGAACTTTAGCAGTCATTGTATGGGCAGGCTTAAAGGGAAGGTAAAAAGTGGAAGGTAAAAAAGAACTTTTTGCTTGTTCTGGGGGGACAAAAAAATCTTGCTTCAAATGGGATATTTGTGGTCTAGCAGGAAGCAGTAGCTCCAGGCTATCCCACTGTGATACCATTGGAAATGAGCTCTTTGAGCAGTGACTTTGGGTCAGCAGGTGGCTGAGAGACAAATGGTGATTTCCTAAAAAGAATGGTTGCAACAGTAGATCAAAGCACAACCTTCGCATGCATGTAAAGGCTTCTGGCTGTGCATTCATCTTTCAGGGCATATTGGCAAGCATCAGTTACCACCAAAAATAATAACTGTCATCAAATTTTGTAAAAAGTACAATCTAGGCCATGTATGCCACCTTTTTTTGTTTATGAGACAGGGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACTCCCCGGGCTCAAGTGATTCTACAGCCACAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCGCCACCATGCCCAGCTAATTTTTTGTATTTTATTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCTTGTCCAGCCCCATTACTTTCTTTTTAAGTAAATACCATGTTCTTTATAATCTCTGTCTTGTGCATACCAATTCTTAGCTTCAATTATATATTTTTACCTGTGTTAATGATACCTTTAGAGTGGAAATNNNNNNNNNNNN
|
benign
| 330,207 |
Considering the variant on chromosome X, location 18575367, involving gene CDKL5 (cyclin dependent kinase like 5), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Angelman_syndrome-like', 'Atypical_Rett_syndrome', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2']
|
TAGTTTGATTACCCCAACCTTGAGTAACTCAGAGGGGATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCTTCTCATAGGCAGTATCTCTCTTGGTCCTAATCTGTGTTCCAGTGTTCTCCAACAGCTTTCTGGCTAAAGTAGAATACTTCATTTATGTAACCAGTTCACAAGGGAGTGTTGACTCCGTGTTCCCAGTTTGTTATGGATACTCGGGTGCTACAAAGCCCTTGCTTTTATGTCATTCCCTTTTCTTTAAACTCAGTTTGAGTTGGGGGTTGGGAAAGGGGGCTGGGATAGAAAATAATCTGAGGAAACATTCCTGGGTCTGCATTTAGAATCTTCCCTCTCCCTTTGGAATCCATTCAGCCTTTTTCCTCCTGCGTGCCTTGGTTAGAGAGCCTTTCTTCTAGAGGGCATATCAAGTAGGCTTCCGTGCCCCTATCTCCACACTCCATTTTCCTCCTTCTCACACTGAAAGATGTGTCTAATCCTGAGGGTCACACAGCTCTCAAGCTAGGATTCTGGCCCTTACCCAAAAGCTTGTGGCTACATGTGTTTTAGACTTCATAATTTTTGGATTTTAGAATGGACGTGTGGCATGTTATAATGCACAGCACTCAGTAATCAAGTAGTATTTCTATAGCACAACATATGAATGTTCATATTAGATTGGATAAACAAAGACTTTATGTAGTCTCCTGTCAGTTCAGGTGTTACCTCTCAGTGAATTTGCCCCAAACTTAGAAAAAGCTTTCAGTTTTTAGACTGTGTTTTGGATTTTGGACTTGCAGATGAGGGATTATGAACCTGTATCCTGGTACATACATGCAAAAACATGGTAGTTAGGATTTCCCGGGTAAATCTAAAGGTATAATAAAAACTAATTTAAATAGAAATATTATTTTCATCACTCCCCTGCCAATTAATCTATTAGAGTTAATATGACTTCTGTCCTTCCTCCATAACCACGGAGATTATCATGAATGAAGTTGATGGTATGGAAGAGGGTCTATTGGTTCAGCATAAGTTCTCCATCCCAGAACAGCTACACCATCTGGGATGGACAGATGGACATGCCACAGGGAGGACAGCAGGAACCTACAGCAGCTGCTGTTCAGAGAGAAGATTAGACACTCTCAGAATTCCCTGCAACTTGGCTGTGACTTGAATTGTGGATGCTTGGCGCATGACCTCTGCTCCCTGAGGTGACTCATGCAGCCTGAGGAATAAAATGTTTTTTTAGGCCAAAGTTTCAGGCCATCCTTAAAAACATCAGCTACTACAGATGCCGGCTGCATAGAGGTTCTTCTGCACACTGACAGTTTTGATTCCTTATGGCCCTTTTAATCTCTTTCCTTCCTTGTATAGAGTGTTATAGTTCAGATGACAATGGAGGCATATGTTGTATCTATAAGTGTGTTTTTATACATACACGTAGTAAAAGAAGTATAAGAAAATTTTTATACATACACATAGTAAAAGGAGTATAAGAAAATATAAGCAGGAAGTCAAGTTTGTGCTGATCAAGTAAACCCTTTCTTCGATTTTCTTATTCTTGATCCTTTCAACAAGAAAACGTGTTATTTAATATTCCATTCTTGTACTTCTTATGCAGAAGTACTCAAAGCAGAAGGTGAAATTGGGATGTTTTCAGTGTTCTTGGAATTCTTTGAATAGTAGCTTGAAAGTTTTCATTTTAGTCTCTTCACCATTGTTTACATTCTAGAAAATGAAGAAGTCAAAGAAACGACTTTACGAGAGCTTAAAATGCTTCGGACTCTCAAGCAGGAAAACATTGTGGAGTTGAAGGAAGCATTTCGTCGGAGGGGAAAGTTGTACTTGGTGTTTGAGTATGTTGAAAAAGTAAGTCATTAATTGCCAATGTGCACATTTGCCCGATTCTTTTATTTAAGGCTGTTTCTGACATTATTTAAGAAAGTACTGTTATCTAATATGGCTTATCAATGTACTCATAATCTGAGGACTTTAAAAATGAAAGTGTTGTTAATAATCATTAGAAATTCTGAAATATATTTAAGAATTTTGTACAATTAAACTGTATAGAGATAATCGTAAGTTTAAACAATATACTGATTTGGCTTCTGAAGTCTTAAACTCTATGTTCAACAAGTAATTTTTAGACTTGACTTAACTAAGCCTAAACTGAGGGAGAAACTGGTAAACTGACAGTGATGGTACAGGCTGGAAGAGGCTGTATAAGATACCACACTGAATCAGACCTAGGCTGGGGAATGAGTGGGCCCAGGAAGCAGCTTATGTGAACTGCCAATGCTTTGGCTTTATTTGAGGGAAGGAGCTGTGCCAGGAGGCCTAAGGTGAGGCTTGAGGTGGTAGATGAGACCGTAAAAGAAAAGCATGCATTGTTTGAGCTGTCTACACTTGCCTTAGCTTGTATTAAAAAATGTTCAACTTGTTGGAGACAATTTTAATAACATGACCTAAGGGCAAATGTATGTTACAGTAATCAATAATGTGTGCCTAGAAATTTCTTGGAGAGGGGCCTGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCGCTTGAGCCTCAGGAGTTTGAGAATAGCCTGAGCAACATAGTGAGACCCTGTCTCTAAAGAAAAAGAAAAAGAGAAATTTCTTGGAGAGCAGCTGACCTACAGCAGTTGTTATGGTCAAAAACTTAAACAGATAAACACTTTAACAGTAGTAGAAGAAACTGGAGTGGGGCAAACCTTTAAGCAAGTTTTCTTGATGAGTAAATAGGTGGCTCCTGCCGATTCCTATGCTGTTGTCCAAAGAAGGTTGAAGTGGGAGAAGTTTATGTTTGCTGCAGGTCTATACCCAGGTGCTTGCTATACCATAAATGACAGAGTATCAACATTGTCATAACCAAATGGAAAGCAGTATTGCCAGGGTAACTGACCAGTAATGTGGCTTTGAATGCATTCAGCCTTTACAAATTGTTTTTTGAAATAAAAAAAAAAAATACATGTAATAATTTCCTTACTAGAAAAACTGGAACGGTACTAGCAGGTTGTTTGTAATCTTAAACCACTGCTTTATGTTCCTTTTCCAGAATCTGTTTTAAGTTTCTTTTTCTGTGTCAACTTATACATTCCTCTAAGGTACCTTCCACACCAAAATAAAACTAAAAGTTTTTTTTTTTTTTTTAAAGTTCTATTAAAAAAAAAGGATTGCTGTATTAGGATTCCAGGGGAAACCAGATGCTCTTTATTTTTTAAAAACTTTTTAGAGATGGTGTCTCACTATGTTGCCTAGGCTGGAGTGTAGTGGCTATTCACAGGTATGATTATAGCACACTGCAGCCTCAAACTCCTGGGCTCAAGCAAATCTTTCACATCAGCCTCCTGAGTCGCTAGGACTACAGGTGCGCGCCACCATGCCTGGCTGCTTTTTATTTTTTCATTATCATAAATAATCATGCAGTTTGTAGTTTTCACTACCAAATAAGAAAATTTTGACATCTCTTAGTTTATCCTTTTTATTTTTGTTCTATTCATGGTGGTTGTTCATTATTAATAATAATTTAATATAACAAATGGAGAAGTCACTTCTGTGTATCTGTTTCCTCACTGGGAGAGGCAATTTTGTGTGTCTGAGATCTCCCTGCTGGTAAATGGCTGAGCTGCTACTAGAACTCCAGTCTTCTGACAGTCAGGCCTGAGATTCTTCCCCCGATCCTGTGGTTCTTAGGTAGAATGTGACTGTCACACCTGCCACATTAGTGGCAGTGCGTCATAAT
|
TAGTTTGATTACCCCAACCTTGAGTAACTCAGAGGGGATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCTTCTCATAGGCAGTATCTCTCTTGGTCCTAATCTGTGTTCCAGTGTTCTCCAACAGCTTTCTGGCTAAAGTAGAATACTTCATTTATGTAACCAGTTCACAAGGGAGTGTTGACTCCGTGTTCCCAGTTTGTTATGGATACTCGGGTGCTACAAAGCCCTTGCTTTTATGTCATTCCCTTTTCTTTAAACTCAGTTTGAGTTGGGGGTTGGGAAAGGGGGCTGGGATAGAAAATAATCTGAGGAAACATTCCTGGGTCTGCATTTAGAATCTTCCCTCTCCCTTTGGAATCCATTCAGCCTTTTTCCTCCTGCGTGCCTTGGTTAGAGAGCCTTTCTTCTAGAGGGCATATCAAGTAGGCTTCCGTGCCCCTATCTCCACACTCCATTTTCCTCCTTCTCACACTGAAAGATGTGTCTAATCCTGAGGGTCACACAGCTCTCAAGCTAGGATTCTGGCCCTTACCCAAAAGCTTGTGGCTACATGTGTTTTAGACTTCATAATTTTTGGATTTTAGAATGGACGTGTGGCATGTTATAATGCACAGCACTCAGTAATCAAGTAGTATTTCTATAGCACAACATATGAATGTTCATATTAGATTGGATAAACAAAGACTTTATGTAGTCTCCTGTCAGTTCAGGTGTTACCTCTCAGTGAATTTGCCCCAAACTTAGAAAAAGCTTTCAGTTTTTAGACTGTGTTTTGGATTTTGGACTTGCAGATGAGGGATTATGAACCTGTATCCTGGTACATACATGCAAAAACATGGTAGTTAGGATTTCCCGGGTAAATCTAAAGGTATAATAAAAACTAATTTAAATAGAAATATTATTTTCATCACTCCCCTGCCAATTAATCTATTAGAGTTAATATGACTTCTGTCCTTCCTCCATAACCACGGAGATTATCATGAATGAAGTTGATGGTATGGAAGAGGGTCTATTGGTTCAGCATAAGTTCTCCATCCCAGAACAGCTACACCATCTGGGATGGACAGATGGACATGCCACAGGGAGGACAGCAGGAACCTACAGCAGCTGCTGTTCAGAGAGAAGATTAGACACTCTCAGAATTCCCTGCAACTTGGCTGTGACTTGAATTGTGGATGCTTGGCGCATGACCTCTGCTCCCTGAGGTGACTCATGCAGCCTGAGGAATAAAATGTTTTTTTAGGCCAAAGTTTCAGGCCATCCTTAAAAACATCAGCTACTACAGATGCCGGCTGCATAGAGGTTCTTCTGCACACTGACAGTTTTGATTCCTTATGGCCCTTTTAATCTCTTTCCTTCCTTGTATAGAGTGTTATAGTTCAGATGACAATGGAGGCATATGTTGTATCTATAAGTGTGTTTTTATACATACACGTAGTAAAAGAAGTATAAGAAAATTTTTATACATACACATAGTAAAAGGAGTATAAGAAAATATAAGCAGGAAGTCAAGTTTGTGCTGATCAAGTAAACCCTTTCTTCGATTTTCTTATTCTTGATCCTTTCAACAAGAAAACGTGTTATTTAATATTCCATTCTTGTACTTCTTATGCAGAAGTACTCAAAGCAGAAGGTGAAATTGGGATGTTTTCAGTGTTCTTGGAATTCTTTGAATAGTAGCTTGAAAGTTTTCATTTTAGTCTCTTCACCATTGTTTACATTCTAGAAAATGAAGAAGTCAAACGACTTTACGAGAGCTTAAAATGCTTCGGACTCTCAAGCAGGAAAACATTGTGGAGTTGAAGGAAGCATTTCGTCGGAGGGGAAAGTTGTACTTGGTGTTTGAGTATGTTGAAAAAGTAAGTCATTAATTGCCAATGTGCACATTTGCCCGATTCTTTTATTTAAGGCTGTTTCTGACATTATTTAAGAAAGTACTGTTATCTAATATGGCTTATCAATGTACTCATAATCTGAGGACTTTAAAAATGAAAGTGTTGTTAATAATCATTAGAAATTCTGAAATATATTTAAGAATTTTGTACAATTAAACTGTATAGAGATAATCGTAAGTTTAAACAATATACTGATTTGGCTTCTGAAGTCTTAAACTCTATGTTCAACAAGTAATTTTTAGACTTGACTTAACTAAGCCTAAACTGAGGGAGAAACTGGTAAACTGACAGTGATGGTACAGGCTGGAAGAGGCTGTATAAGATACCACACTGAATCAGACCTAGGCTGGGGAATGAGTGGGCCCAGGAAGCAGCTTATGTGAACTGCCAATGCTTTGGCTTTATTTGAGGGAAGGAGCTGTGCCAGGAGGCCTAAGGTGAGGCTTGAGGTGGTAGATGAGACCGTAAAAGAAAAGCATGCATTGTTTGAGCTGTCTACACTTGCCTTAGCTTGTATTAAAAAATGTTCAACTTGTTGGAGACAATTTTAATAACATGACCTAAGGGCAAATGTATGTTACAGTAATCAATAATGTGTGCCTAGAAATTTCTTGGAGAGGGGCCTGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCGCTTGAGCCTCAGGAGTTTGAGAATAGCCTGAGCAACATAGTGAGACCCTGTCTCTAAAGAAAAAGAAAAAGAGAAATTTCTTGGAGAGCAGCTGACCTACAGCAGTTGTTATGGTCAAAAACTTAAACAGATAAACACTTTAACAGTAGTAGAAGAAACTGGAGTGGGGCAAACCTTTAAGCAAGTTTTCTTGATGAGTAAATAGGTGGCTCCTGCCGATTCCTATGCTGTTGTCCAAAGAAGGTTGAAGTGGGAGAAGTTTATGTTTGCTGCAGGTCTATACCCAGGTGCTTGCTATACCATAAATGACAGAGTATCAACATTGTCATAACCAAATGGAAAGCAGTATTGCCAGGGTAACTGACCAGTAATGTGGCTTTGAATGCATTCAGCCTTTACAAATTGTTTTTTGAAATAAAAAAAAAAAATACATGTAATAATTTCCTTACTAGAAAAACTGGAACGGTACTAGCAGGTTGTTTGTAATCTTAAACCACTGCTTTATGTTCCTTTTCCAGAATCTGTTTTAAGTTTCTTTTTCTGTGTCAACTTATACATTCCTCTAAGGTACCTTCCACACCAAAATAAAACTAAAAGTTTTTTTTTTTTTTTTAAAGTTCTATTAAAAAAAAAGGATTGCTGTATTAGGATTCCAGGGGAAACCAGATGCTCTTTATTTTTTAAAAACTTTTTAGAGATGGTGTCTCACTATGTTGCCTAGGCTGGAGTGTAGTGGCTATTCACAGGTATGATTATAGCACACTGCAGCCTCAAACTCCTGGGCTCAAGCAAATCTTTCACATCAGCCTCCTGAGTCGCTAGGACTACAGGTGCGCGCCACCATGCCTGGCTGCTTTTTATTTTTTCATTATCATAAATAATCATGCAGTTTGTAGTTTTCACTACCAAATAAGAAAATTTTGACATCTCTTAGTTTATCCTTTTTATTTTTGTTCTATTCATGGTGGTTGTTCATTATTAATAATAATTTAATATAACAAATGGAGAAGTCACTTCTGTGTATCTGTTTCCTCACTGGGAGAGGCAATTTTGTGTGTCTGAGATCTCCCTGCTGGTAAATGGCTGAGCTGCTACTAGAACTCCAGTCTTCTGACAGTCAGGCCTGAGATTCTTCCCCCGATCCTGTGGTTCTTAGGTAGAATGTGACTGTCACACCTGCCACATTAGTGGCAGTGCGTCATAATNNNN
|
pathogenic
| 330,212 |
Variant in CDKL5 (cyclin dependent kinase like 5), chromosome X, position 18575404—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2']
|
ATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCTTCTCATAGGCAGTATCTCTCTTGGTCCTAATCTGTGTTCCAGTGTTCTCCAACAGCTTTCTGGCTAAAGTAGAATACTTCATTTATGTAACCAGTTCACAAGGGAGTGTTGACTCCGTGTTCCCAGTTTGTTATGGATACTCGGGTGCTACAAAGCCCTTGCTTTTATGTCATTCCCTTTTCTTTAAACTCAGTTTGAGTTGGGGGTTGGGAAAGGGGGCTGGGATAGAAAATAATCTGAGGAAACATTCCTGGGTCTGCATTTAGAATCTTCCCTCTCCCTTTGGAATCCATTCAGCCTTTTTCCTCCTGCGTGCCTTGGTTAGAGAGCCTTTCTTCTAGAGGGCATATCAAGTAGGCTTCCGTGCCCCTATCTCCACACTCCATTTTCCTCCTTCTCACACTGAAAGATGTGTCTAATCCTGAGGGTCACACAGCTCTCAAGCTAGGATTCTGGCCCTTACCCAAAAGCTTGTGGCTACATGTGTTTTAGACTTCATAATTTTTGGATTTTAGAATGGACGTGTGGCATGTTATAATGCACAGCACTCAGTAATCAAGTAGTATTTCTATAGCACAACATATGAATGTTCATATTAGATTGGATAAACAAAGACTTTATGTAGTCTCCTGTCAGTTCAGGTGTTACCTCTCAGTGAATTTGCCCCAAACTTAGAAAAAGCTTTCAGTTTTTAGACTGTGTTTTGGATTTTGGACTTGCAGATGAGGGATTATGAACCTGTATCCTGGTACATACATGCAAAAACATGGTAGTTAGGATTTCCCGGGTAAATCTAAAGGTATAATAAAAACTAATTTAAATAGAAATATTATTTTCATCACTCCCCTGCCAATTAATCTATTAGAGTTAATATGACTTCTGTCCTTCCTCCATAACCACGGAGATTATCATGAATGAAGTTGATGGTATGGAAGAGGGTCTATTGGTTCAGCATAAGTTCTCCATCCCAGAACAGCTACACCATCTGGGATGGACAGATGGACATGCCACAGGGAGGACAGCAGGAACCTACAGCAGCTGCTGTTCAGAGAGAAGATTAGACACTCTCAGAATTCCCTGCAACTTGGCTGTGACTTGAATTGTGGATGCTTGGCGCATGACCTCTGCTCCCTGAGGTGACTCATGCAGCCTGAGGAATAAAATGTTTTTTTAGGCCAAAGTTTCAGGCCATCCTTAAAAACATCAGCTACTACAGATGCCGGCTGCATAGAGGTTCTTCTGCACACTGACAGTTTTGATTCCTTATGGCCCTTTTAATCTCTTTCCTTCCTTGTATAGAGTGTTATAGTTCAGATGACAATGGAGGCATATGTTGTATCTATAAGTGTGTTTTTATACATACACGTAGTAAAAGAAGTATAAGAAAATTTTTATACATACACATAGTAAAAGGAGTATAAGAAAATATAAGCAGGAAGTCAAGTTTGTGCTGATCAAGTAAACCCTTTCTTCGATTTTCTTATTCTTGATCCTTTCAACAAGAAAACGTGTTATTTAATATTCCATTCTTGTACTTCTTATGCAGAAGTACTCAAAGCAGAAGGTGAAATTGGGATGTTTTCAGTGTTCTTGGAATTCTTTGAATAGTAGCTTGAAAGTTTTCATTTTAGTCTCTTCACCATTGTTTACATTCTAGAAAATGAAGAAGTCAAAGAAACGACTTTACGAGAGCTTAAAATGCTTCGGACTCTCAAGCAGGAAAACATTGTGGAGTTGAAGGAAGCATTTCGTCGGAGGGGAAAGTTGTACTTGGTGTTTGAGTATGTTGAAAAAGTAAGTCATTAATTGCCAATGTGCACATTTGCCCGATTCTTTTATTTAAGGCTGTTTCTGACATTATTTAAGAAAGTACTGTTATCTAATATGGCTTATCAATGTACTCATAATCTGAGGACTTTAAAAATGAAAGTGTTGTTAATAATCATTAGAAATTCTGAAATATATTTAAGAATTTTGTACAATTAAACTGTATAGAGATAATCGTAAGTTTAAACAATATACTGATTTGGCTTCTGAAGTCTTAAACTCTATGTTCAACAAGTAATTTTTAGACTTGACTTAACTAAGCCTAAACTGAGGGAGAAACTGGTAAACTGACAGTGATGGTACAGGCTGGAAGAGGCTGTATAAGATACCACACTGAATCAGACCTAGGCTGGGGAATGAGTGGGCCCAGGAAGCAGCTTATGTGAACTGCCAATGCTTTGGCTTTATTTGAGGGAAGGAGCTGTGCCAGGAGGCCTAAGGTGAGGCTTGAGGTGGTAGATGAGACCGTAAAAGAAAAGCATGCATTGTTTGAGCTGTCTACACTTGCCTTAGCTTGTATTAAAAAATGTTCAACTTGTTGGAGACAATTTTAATAACATGACCTAAGGGCAAATGTATGTTACAGTAATCAATAATGTGTGCCTAGAAATTTCTTGGAGAGGGGCCTGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCGCTTGAGCCTCAGGAGTTTGAGAATAGCCTGAGCAACATAGTGAGACCCTGTCTCTAAAGAAAAAGAAAAAGAGAAATTTCTTGGAGAGCAGCTGACCTACAGCAGTTGTTATGGTCAAAAACTTAAACAGATAAACACTTTAACAGTAGTAGAAGAAACTGGAGTGGGGCAAACCTTTAAGCAAGTTTTCTTGATGAGTAAATAGGTGGCTCCTGCCGATTCCTATGCTGTTGTCCAAAGAAGGTTGAAGTGGGAGAAGTTTATGTTTGCTGCAGGTCTATACCCAGGTGCTTGCTATACCATAAATGACAGAGTATCAACATTGTCATAACCAAATGGAAAGCAGTATTGCCAGGGTAACTGACCAGTAATGTGGCTTTGAATGCATTCAGCCTTTACAAATTGTTTTTTGAAATAAAAAAAAAAAATACATGTAATAATTTCCTTACTAGAAAAACTGGAACGGTACTAGCAGGTTGTTTGTAATCTTAAACCACTGCTTTATGTTCCTTTTCCAGAATCTGTTTTAAGTTTCTTTTTCTGTGTCAACTTATACATTCCTCTAAGGTACCTTCCACACCAAAATAAAACTAAAAGTTTTTTTTTTTTTTTTAAAGTTCTATTAAAAAAAAAGGATTGCTGTATTAGGATTCCAGGGGAAACCAGATGCTCTTTATTTTTTAAAAACTTTTTAGAGATGGTGTCTCACTATGTTGCCTAGGCTGGAGTGTAGTGGCTATTCACAGGTATGATTATAGCACACTGCAGCCTCAAACTCCTGGGCTCAAGCAAATCTTTCACATCAGCCTCCTGAGTCGCTAGGACTACAGGTGCGCGCCACCATGCCTGGCTGCTTTTTATTTTTTCATTATCATAAATAATCATGCAGTTTGTAGTTTTCACTACCAAATAAGAAAATTTTGACATCTCTTAGTTTATCCTTTTTATTTTTGTTCTATTCATGGTGGTTGTTCATTATTAATAATAATTTAATATAACAAATGGAGAAGTCACTTCTGTGTATCTGTTTCCTCACTGGGAGAGGCAATTTTGTGTGTCTGAGATCTCCCTGCTGGTAAATGGCTGAGCTGCTACTAGAACTCCAGTCTTCTGACAGTCAGGCCTGAGATTCTTCCCCCGATCCTGTGGTTCTTAGGTAGAATGTGACTGTCACACCTGCCACATTAGTGGCAGTGCGTCATAATTGACAGTGAGTCTCAGGAGAGCAAGGAGAAAGTTCTC
|
ATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCTTCTCATAGGCAGTATCTCTCTTGGTCCTAATCTGTGTTCCAGTGTTCTCCAACAGCTTTCTGGCTAAAGTAGAATACTTCATTTATGTAACCAGTTCACAAGGGAGTGTTGACTCCGTGTTCCCAGTTTGTTATGGATACTCGGGTGCTACAAAGCCCTTGCTTTTATGTCATTCCCTTTTCTTTAAACTCAGTTTGAGTTGGGGGTTGGGAAAGGGGGCTGGGATAGAAAATAATCTGAGGAAACATTCCTGGGTCTGCATTTAGAATCTTCCCTCTCCCTTTGGAATCCATTCAGCCTTTTTCCTCCTGCGTGCCTTGGTTAGAGAGCCTTTCTTCTAGAGGGCATATCAAGTAGGCTTCCGTGCCCCTATCTCCACACTCCATTTTCCTCCTTCTCACACTGAAAGATGTGTCTAATCCTGAGGGTCACACAGCTCTCAAGCTAGGATTCTGGCCCTTACCCAAAAGCTTGTGGCTACATGTGTTTTAGACTTCATAATTTTTGGATTTTAGAATGGACGTGTGGCATGTTATAATGCACAGCACTCAGTAATCAAGTAGTATTTCTATAGCACAACATATGAATGTTCATATTAGATTGGATAAACAAAGACTTTATGTAGTCTCCTGTCAGTTCAGGTGTTACCTCTCAGTGAATTTGCCCCAAACTTAGAAAAAGCTTTCAGTTTTTAGACTGTGTTTTGGATTTTGGACTTGCAGATGAGGGATTATGAACCTGTATCCTGGTACATACATGCAAAAACATGGTAGTTAGGATTTCCCGGGTAAATCTAAAGGTATAATAAAAACTAATTTAAATAGAAATATTATTTTCATCACTCCCCTGCCAATTAATCTATTAGAGTTAATATGACTTCTGTCCTTCCTCCATAACCACGGAGATTATCATGAATGAAGTTGATGGTATGGAAGAGGGTCTATTGGTTCAGCATAAGTTCTCCATCCCAGAACAGCTACACCATCTGGGATGGACAGATGGACATGCCACAGGGAGGACAGCAGGAACCTACAGCAGCTGCTGTTCAGAGAGAAGATTAGACACTCTCAGAATTCCCTGCAACTTGGCTGTGACTTGAATTGTGGATGCTTGGCGCATGACCTCTGCTCCCTGAGGTGACTCATGCAGCCTGAGGAATAAAATGTTTTTTTAGGCCAAAGTTTCAGGCCATCCTTAAAAACATCAGCTACTACAGATGCCGGCTGCATAGAGGTTCTTCTGCACACTGACAGTTTTGATTCCTTATGGCCCTTTTAATCTCTTTCCTTCCTTGTATAGAGTGTTATAGTTCAGATGACAATGGAGGCATATGTTGTATCTATAAGTGTGTTTTTATACATACACGTAGTAAAAGAAGTATAAGAAAATTTTTATACATACACATAGTAAAAGGAGTATAAGAAAATATAAGCAGGAAGTCAAGTTTGTGCTGATCAAGTAAACCCTTTCTTCGATTTTCTTATTCTTGATCCTTTCAACAAGAAAACGTGTTATTTAATATTCCATTCTTGTACTTCTTATGCAGAAGTACTCAAAGCAGAAGGTGAAATTGGGATGTTTTCAGTGTTCTTGGAATTCTTTGAATAGTAGCTTGAAAGTTTTCATTTTAGTCTCTTCACCATTGTTTACATTCTAGAAAATGAAGAAGTCAAAGAAACGACTTTACGAGAGCTTAAAATGCTTCGGACTCAAGCAGGAAAACATTGTGGAGTTGAAGGAAGCATTTCGTCGGAGGGGAAAGTTGTACTTGGTGTTTGAGTATGTTGAAAAAGTAAGTCATTAATTGCCAATGTGCACATTTGCCCGATTCTTTTATTTAAGGCTGTTTCTGACATTATTTAAGAAAGTACTGTTATCTAATATGGCTTATCAATGTACTCATAATCTGAGGACTTTAAAAATGAAAGTGTTGTTAATAATCATTAGAAATTCTGAAATATATTTAAGAATTTTGTACAATTAAACTGTATAGAGATAATCGTAAGTTTAAACAATATACTGATTTGGCTTCTGAAGTCTTAAACTCTATGTTCAACAAGTAATTTTTAGACTTGACTTAACTAAGCCTAAACTGAGGGAGAAACTGGTAAACTGACAGTGATGGTACAGGCTGGAAGAGGCTGTATAAGATACCACACTGAATCAGACCTAGGCTGGGGAATGAGTGGGCCCAGGAAGCAGCTTATGTGAACTGCCAATGCTTTGGCTTTATTTGAGGGAAGGAGCTGTGCCAGGAGGCCTAAGGTGAGGCTTGAGGTGGTAGATGAGACCGTAAAAGAAAAGCATGCATTGTTTGAGCTGTCTACACTTGCCTTAGCTTGTATTAAAAAATGTTCAACTTGTTGGAGACAATTTTAATAACATGACCTAAGGGCAAATGTATGTTACAGTAATCAATAATGTGTGCCTAGAAATTTCTTGGAGAGGGGCCTGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCGCTTGAGCCTCAGGAGTTTGAGAATAGCCTGAGCAACATAGTGAGACCCTGTCTCTAAAGAAAAAGAAAAAGAGAAATTTCTTGGAGAGCAGCTGACCTACAGCAGTTGTTATGGTCAAAAACTTAAACAGATAAACACTTTAACAGTAGTAGAAGAAACTGGAGTGGGGCAAACCTTTAAGCAAGTTTTCTTGATGAGTAAATAGGTGGCTCCTGCCGATTCCTATGCTGTTGTCCAAAGAAGGTTGAAGTGGGAGAAGTTTATGTTTGCTGCAGGTCTATACCCAGGTGCTTGCTATACCATAAATGACAGAGTATCAACATTGTCATAACCAAATGGAAAGCAGTATTGCCAGGGTAACTGACCAGTAATGTGGCTTTGAATGCATTCAGCCTTTACAAATTGTTTTTTGAAATAAAAAAAAAAAATACATGTAATAATTTCCTTACTAGAAAAACTGGAACGGTACTAGCAGGTTGTTTGTAATCTTAAACCACTGCTTTATGTTCCTTTTCCAGAATCTGTTTTAAGTTTCTTTTTCTGTGTCAACTTATACATTCCTCTAAGGTACCTTCCACACCAAAATAAAACTAAAAGTTTTTTTTTTTTTTTTAAAGTTCTATTAAAAAAAAAGGATTGCTGTATTAGGATTCCAGGGGAAACCAGATGCTCTTTATTTTTTAAAAACTTTTTAGAGATGGTGTCTCACTATGTTGCCTAGGCTGGAGTGTAGTGGCTATTCACAGGTATGATTATAGCACACTGCAGCCTCAAACTCCTGGGCTCAAGCAAATCTTTCACATCAGCCTCCTGAGTCGCTAGGACTACAGGTGCGCGCCACCATGCCTGGCTGCTTTTTATTTTTTCATTATCATAAATAATCATGCAGTTTGTAGTTTTCACTACCAAATAAGAAAATTTTGACATCTCTTAGTTTATCCTTTTTATTTTTGTTCTATTCATGGTGGTTGTTCATTATTAATAATAATTTAATATAACAAATGGAGAAGTCACTTCTGTGTATCTGTTTCCTCACTGGGAGAGGCAATTTTGTGTGTCTGAGATCTCCCTGCTGGTAAATGGCTGAGCTGCTACTAGAACTCCAGTCTTCTGACAGTCAGGCCTGAGATTCTTCCCCCGATCCTGTGGTTCTTAGGTAGAATGTGACTGTCACACCTGCCACATTAGTGGCAGTGCGTCATAATTGACAGTGAGTCTCAGGAGAGCAAGGAGAAAGTTCTCNN
|
pathogenic
| 330,218 |
The mutation in gene CDKL5 (cyclin dependent kinase like 5) at chromosome X, position 18575432—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2']
|
CTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCTTCTCATAGGCAGTATCTCTCTTGGTCCTAATCTGTGTTCCAGTGTTCTCCAACAGCTTTCTGGCTAAAGTAGAATACTTCATTTATGTAACCAGTTCACAAGGGAGTGTTGACTCCGTGTTCCCAGTTTGTTATGGATACTCGGGTGCTACAAAGCCCTTGCTTTTATGTCATTCCCTTTTCTTTAAACTCAGTTTGAGTTGGGGGTTGGGAAAGGGGGCTGGGATAGAAAATAATCTGAGGAAACATTCCTGGGTCTGCATTTAGAATCTTCCCTCTCCCTTTGGAATCCATTCAGCCTTTTTCCTCCTGCGTGCCTTGGTTAGAGAGCCTTTCTTCTAGAGGGCATATCAAGTAGGCTTCCGTGCCCCTATCTCCACACTCCATTTTCCTCCTTCTCACACTGAAAGATGTGTCTAATCCTGAGGGTCACACAGCTCTCAAGCTAGGATTCTGGCCCTTACCCAAAAGCTTGTGGCTACATGTGTTTTAGACTTCATAATTTTTGGATTTTAGAATGGACGTGTGGCATGTTATAATGCACAGCACTCAGTAATCAAGTAGTATTTCTATAGCACAACATATGAATGTTCATATTAGATTGGATAAACAAAGACTTTATGTAGTCTCCTGTCAGTTCAGGTGTTACCTCTCAGTGAATTTGCCCCAAACTTAGAAAAAGCTTTCAGTTTTTAGACTGTGTTTTGGATTTTGGACTTGCAGATGAGGGATTATGAACCTGTATCCTGGTACATACATGCAAAAACATGGTAGTTAGGATTTCCCGGGTAAATCTAAAGGTATAATAAAAACTAATTTAAATAGAAATATTATTTTCATCACTCCCCTGCCAATTAATCTATTAGAGTTAATATGACTTCTGTCCTTCCTCCATAACCACGGAGATTATCATGAATGAAGTTGATGGTATGGAAGAGGGTCTATTGGTTCAGCATAAGTTCTCCATCCCAGAACAGCTACACCATCTGGGATGGACAGATGGACATGCCACAGGGAGGACAGCAGGAACCTACAGCAGCTGCTGTTCAGAGAGAAGATTAGACACTCTCAGAATTCCCTGCAACTTGGCTGTGACTTGAATTGTGGATGCTTGGCGCATGACCTCTGCTCCCTGAGGTGACTCATGCAGCCTGAGGAATAAAATGTTTTTTTAGGCCAAAGTTTCAGGCCATCCTTAAAAACATCAGCTACTACAGATGCCGGCTGCATAGAGGTTCTTCTGCACACTGACAGTTTTGATTCCTTATGGCCCTTTTAATCTCTTTCCTTCCTTGTATAGAGTGTTATAGTTCAGATGACAATGGAGGCATATGTTGTATCTATAAGTGTGTTTTTATACATACACGTAGTAAAAGAAGTATAAGAAAATTTTTATACATACACATAGTAAAAGGAGTATAAGAAAATATAAGCAGGAAGTCAAGTTTGTGCTGATCAAGTAAACCCTTTCTTCGATTTTCTTATTCTTGATCCTTTCAACAAGAAAACGTGTTATTTAATATTCCATTCTTGTACTTCTTATGCAGAAGTACTCAAAGCAGAAGGTGAAATTGGGATGTTTTCAGTGTTCTTGGAATTCTTTGAATAGTAGCTTGAAAGTTTTCATTTTAGTCTCTTCACCATTGTTTACATTCTAGAAAATGAAGAAGTCAAAGAAACGACTTTACGAGAGCTTAAAATGCTTCGGACTCTCAAGCAGGAAAACATTGTGGAGTTGAAGGAAGCATTTCGTCGGAGGGGAAAGTTGTACTTGGTGTTTGAGTATGTTGAAAAAGTAAGTCATTAATTGCCAATGTGCACATTTGCCCGATTCTTTTATTTAAGGCTGTTTCTGACATTATTTAAGAAAGTACTGTTATCTAATATGGCTTATCAATGTACTCATAATCTGAGGACTTTAAAAATGAAAGTGTTGTTAATAATCATTAGAAATTCTGAAATATATTTAAGAATTTTGTACAATTAAACTGTATAGAGATAATCGTAAGTTTAAACAATATACTGATTTGGCTTCTGAAGTCTTAAACTCTATGTTCAACAAGTAATTTTTAGACTTGACTTAACTAAGCCTAAACTGAGGGAGAAACTGGTAAACTGACAGTGATGGTACAGGCTGGAAGAGGCTGTATAAGATACCACACTGAATCAGACCTAGGCTGGGGAATGAGTGGGCCCAGGAAGCAGCTTATGTGAACTGCCAATGCTTTGGCTTTATTTGAGGGAAGGAGCTGTGCCAGGAGGCCTAAGGTGAGGCTTGAGGTGGTAGATGAGACCGTAAAAGAAAAGCATGCATTGTTTGAGCTGTCTACACTTGCCTTAGCTTGTATTAAAAAATGTTCAACTTGTTGGAGACAATTTTAATAACATGACCTAAGGGCAAATGTATGTTACAGTAATCAATAATGTGTGCCTAGAAATTTCTTGGAGAGGGGCCTGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCGCTTGAGCCTCAGGAGTTTGAGAATAGCCTGAGCAACATAGTGAGACCCTGTCTCTAAAGAAAAAGAAAAAGAGAAATTTCTTGGAGAGCAGCTGACCTACAGCAGTTGTTATGGTCAAAAACTTAAACAGATAAACACTTTAACAGTAGTAGAAGAAACTGGAGTGGGGCAAACCTTTAAGCAAGTTTTCTTGATGAGTAAATAGGTGGCTCCTGCCGATTCCTATGCTGTTGTCCAAAGAAGGTTGAAGTGGGAGAAGTTTATGTTTGCTGCAGGTCTATACCCAGGTGCTTGCTATACCATAAATGACAGAGTATCAACATTGTCATAACCAAATGGAAAGCAGTATTGCCAGGGTAACTGACCAGTAATGTGGCTTTGAATGCATTCAGCCTTTACAAATTGTTTTTTGAAATAAAAAAAAAAAATACATGTAATAATTTCCTTACTAGAAAAACTGGAACGGTACTAGCAGGTTGTTTGTAATCTTAAACCACTGCTTTATGTTCCTTTTCCAGAATCTGTTTTAAGTTTCTTTTTCTGTGTCAACTTATACATTCCTCTAAGGTACCTTCCACACCAAAATAAAACTAAAAGTTTTTTTTTTTTTTTTAAAGTTCTATTAAAAAAAAAGGATTGCTGTATTAGGATTCCAGGGGAAACCAGATGCTCTTTATTTTTTAAAAACTTTTTAGAGATGGTGTCTCACTATGTTGCCTAGGCTGGAGTGTAGTGGCTATTCACAGGTATGATTATAGCACACTGCAGCCTCAAACTCCTGGGCTCAAGCAAATCTTTCACATCAGCCTCCTGAGTCGCTAGGACTACAGGTGCGCGCCACCATGCCTGGCTGCTTTTTATTTTTTCATTATCATAAATAATCATGCAGTTTGTAGTTTTCACTACCAAATAAGAAAATTTTGACATCTCTTAGTTTATCCTTTTTATTTTTGTTCTATTCATGGTGGTTGTTCATTATTAATAATAATTTAATATAACAAATGGAGAAGTCACTTCTGTGTATCTGTTTCCTCACTGGGAGAGGCAATTTTGTGTGTCTGAGATCTCCCTGCTGGTAAATGGCTGAGCTGCTACTAGAACTCCAGTCTTCTGACAGTCAGGCCTGAGATTCTTCCCCCGATCCTGTGGTTCTTAGGTAGAATGTGACTGTCACACCTGCCACATTAGTGGCAGTGCGTCATAATTGACAGTGAGTCTCAGGAGAGCAAGGAGAAAGTTCTCTAAGGGATAAGGGACTGGTAACAGAGAC
|
CTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCTTCTCATAGGCAGTATCTCTCTTGGTCCTAATCTGTGTTCCAGTGTTCTCCAACAGCTTTCTGGCTAAAGTAGAATACTTCATTTATGTAACCAGTTCACAAGGGAGTGTTGACTCCGTGTTCCCAGTTTGTTATGGATACTCGGGTGCTACAAAGCCCTTGCTTTTATGTCATTCCCTTTTCTTTAAACTCAGTTTGAGTTGGGGGTTGGGAAAGGGGGCTGGGATAGAAAATAATCTGAGGAAACATTCCTGGGTCTGCATTTAGAATCTTCCCTCTCCCTTTGGAATCCATTCAGCCTTTTTCCTCCTGCGTGCCTTGGTTAGAGAGCCTTTCTTCTAGAGGGCATATCAAGTAGGCTTCCGTGCCCCTATCTCCACACTCCATTTTCCTCCTTCTCACACTGAAAGATGTGTCTAATCCTGAGGGTCACACAGCTCTCAAGCTAGGATTCTGGCCCTTACCCAAAAGCTTGTGGCTACATGTGTTTTAGACTTCATAATTTTTGGATTTTAGAATGGACGTGTGGCATGTTATAATGCACAGCACTCAGTAATCAAGTAGTATTTCTATAGCACAACATATGAATGTTCATATTAGATTGGATAAACAAAGACTTTATGTAGTCTCCTGTCAGTTCAGGTGTTACCTCTCAGTGAATTTGCCCCAAACTTAGAAAAAGCTTTCAGTTTTTAGACTGTGTTTTGGATTTTGGACTTGCAGATGAGGGATTATGAACCTGTATCCTGGTACATACATGCAAAAACATGGTAGTTAGGATTTCCCGGGTAAATCTAAAGGTATAATAAAAACTAATTTAAATAGAAATATTATTTTCATCACTCCCCTGCCAATTAATCTATTAGAGTTAATATGACTTCTGTCCTTCCTCCATAACCACGGAGATTATCATGAATGAAGTTGATGGTATGGAAGAGGGTCTATTGGTTCAGCATAAGTTCTCCATCCCAGAACAGCTACACCATCTGGGATGGACAGATGGACATGCCACAGGGAGGACAGCAGGAACCTACAGCAGCTGCTGTTCAGAGAGAAGATTAGACACTCTCAGAATTCCCTGCAACTTGGCTGTGACTTGAATTGTGGATGCTTGGCGCATGACCTCTGCTCCCTGAGGTGACTCATGCAGCCTGAGGAATAAAATGTTTTTTTAGGCCAAAGTTTCAGGCCATCCTTAAAAACATCAGCTACTACAGATGCCGGCTGCATAGAGGTTCTTCTGCACACTGACAGTTTTGATTCCTTATGGCCCTTTTAATCTCTTTCCTTCCTTGTATAGAGTGTTATAGTTCAGATGACAATGGAGGCATATGTTGTATCTATAAGTGTGTTTTTATACATACACGTAGTAAAAGAAGTATAAGAAAATTTTTATACATACACATAGTAAAAGGAGTATAAGAAAATATAAGCAGGAAGTCAAGTTTGTGCTGATCAAGTAAACCCTTTCTTCGATTTTCTTATTCTTGATCCTTTCAACAAGAAAACGTGTTATTTAATATTCCATTCTTGTACTTCTTATGCAGAAGTACTCAAAGCAGAAGGTGAAATTGGGATGTTTTCAGTGTTCTTGGAATTCTTTGAATAGTAGCTTGAAAGTTTTCATTTTAGTCTCTTCACCATTGTTTACATTCTAGAAAATGAAGAAGTCAAAGAAACGACTTTACGAGAGCTTAAAATGCTTCGGACTCTCAAGCAGGAAAACATTGTGGAGTTGAAGCATTTCGTCGGAGGGGAAAGTTGTACTTGGTGTTTGAGTATGTTGAAAAAGTAAGTCATTAATTGCCAATGTGCACATTTGCCCGATTCTTTTATTTAAGGCTGTTTCTGACATTATTTAAGAAAGTACTGTTATCTAATATGGCTTATCAATGTACTCATAATCTGAGGACTTTAAAAATGAAAGTGTTGTTAATAATCATTAGAAATTCTGAAATATATTTAAGAATTTTGTACAATTAAACTGTATAGAGATAATCGTAAGTTTAAACAATATACTGATTTGGCTTCTGAAGTCTTAAACTCTATGTTCAACAAGTAATTTTTAGACTTGACTTAACTAAGCCTAAACTGAGGGAGAAACTGGTAAACTGACAGTGATGGTACAGGCTGGAAGAGGCTGTATAAGATACCACACTGAATCAGACCTAGGCTGGGGAATGAGTGGGCCCAGGAAGCAGCTTATGTGAACTGCCAATGCTTTGGCTTTATTTGAGGGAAGGAGCTGTGCCAGGAGGCCTAAGGTGAGGCTTGAGGTGGTAGATGAGACCGTAAAAGAAAAGCATGCATTGTTTGAGCTGTCTACACTTGCCTTAGCTTGTATTAAAAAATGTTCAACTTGTTGGAGACAATTTTAATAACATGACCTAAGGGCAAATGTATGTTACAGTAATCAATAATGTGTGCCTAGAAATTTCTTGGAGAGGGGCCTGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCGCTTGAGCCTCAGGAGTTTGAGAATAGCCTGAGCAACATAGTGAGACCCTGTCTCTAAAGAAAAAGAAAAAGAGAAATTTCTTGGAGAGCAGCTGACCTACAGCAGTTGTTATGGTCAAAAACTTAAACAGATAAACACTTTAACAGTAGTAGAAGAAACTGGAGTGGGGCAAACCTTTAAGCAAGTTTTCTTGATGAGTAAATAGGTGGCTCCTGCCGATTCCTATGCTGTTGTCCAAAGAAGGTTGAAGTGGGAGAAGTTTATGTTTGCTGCAGGTCTATACCCAGGTGCTTGCTATACCATAAATGACAGAGTATCAACATTGTCATAACCAAATGGAAAGCAGTATTGCCAGGGTAACTGACCAGTAATGTGGCTTTGAATGCATTCAGCCTTTACAAATTGTTTTTTGAAATAAAAAAAAAAAATACATGTAATAATTTCCTTACTAGAAAAACTGGAACGGTACTAGCAGGTTGTTTGTAATCTTAAACCACTGCTTTATGTTCCTTTTCCAGAATCTGTTTTAAGTTTCTTTTTCTGTGTCAACTTATACATTCCTCTAAGGTACCTTCCACACCAAAATAAAACTAAAAGTTTTTTTTTTTTTTTTAAAGTTCTATTAAAAAAAAAGGATTGCTGTATTAGGATTCCAGGGGAAACCAGATGCTCTTTATTTTTTAAAAACTTTTTAGAGATGGTGTCTCACTATGTTGCCTAGGCTGGAGTGTAGTGGCTATTCACAGGTATGATTATAGCACACTGCAGCCTCAAACTCCTGGGCTCAAGCAAATCTTTCACATCAGCCTCCTGAGTCGCTAGGACTACAGGTGCGCGCCACCATGCCTGGCTGCTTTTTATTTTTTCATTATCATAAATAATCATGCAGTTTGTAGTTTTCACTACCAAATAAGAAAATTTTGACATCTCTTAGTTTATCCTTTTTATTTTTGTTCTATTCATGGTGGTTGTTCATTATTAATAATAATTTAATATAACAAATGGAGAAGTCACTTCTGTGTATCTGTTTCCTCACTGGGAGAGGCAATTTTGTGTGTCTGAGATCTCCCTGCTGGTAAATGGCTGAGCTGCTACTAGAACTCCAGTCTTCTGACAGTCAGGCCTGAGATTCTTCCCCCGATCCTGTGGTTCTTAGGTAGAATGTGACTGTCACACCTGCCACATTAGTGGCAGTGCGTCATAATTGACAGTGAGTCTCAGGAGAGCAAGGAGAAAGTTCTCTAAGGGATAAGGGACTGGTAACAGAGACNNNN
|
pathogenic
| 330,220 |
Variant at chromosome X, position 18579913, gene CDKL5 (cyclin dependent kinase like 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2']
|
TCTATGAATTTGTTAATTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGCAATAAGTTTAGTGGCTTTTCATTTATTAAGCCTTTCTAAAGTATTCAACTTTGTTTTCTTATAAACAACAACTCTTTTTTTAAAAAAACATTATTTCATTTGTTTATATGGTATTTAATTATATTAAAATAACAAGTGCATCTTTTATAAATAGGCATGGGAGTAAATACAACTGATTCTTGATAGGTATACAACTTGACTGGTGGGAACAAAACTGTGAGGCCAAATTAGAGCAGTGATTTTCTGACTGGTCTTATGGCCCCTTCACACTCTGAAAATTATTGGGAACCCTAAGAACTTTTTATTTATGTGTATTTTATCTATTAGTGTTTCTCATATTAGTCATGACTGAGCAATATAAAAATATTAGTTCATTTTAAAATAACAATAAACGTATTGCATGTTAACATAGATAAGTTTGTATGTCAGTTATTCTTTCAAGTGAAAAATGGCATTCCACATAAAAAGCAGCTCATTCAGCTTGCATCTCAATCCTCTAAGTGCTTTTCCTCAGGACAACCATTGGACAGATGGTGCATGTGCAGCAGAAGGGCTTTATGTGCAGTCTGCCATTTTATCATGCAGATTCCAAAAAAGACATGTACTCAAGAATTGAAATTTAGTCAAAGTAATATTTTGTACTGCTTCATCAAAGATGTCCTTAACTAAAACGTCTGTTTTCTTTTTTAAAGGCAAGGTTTAATTGGATTAAAGAATCCAATGCCTTGATTCATGCTGAGGTGCCAGCAGTTTACCCATTGTTGCTTTGTACCATTAGTGTAAATGCCAACACAGTGAAAAAGGCAAACATCACAGTCTTATTATGAATATAGTTTTGACTTCATGGGCCCTCCGCAAGATCTGAGACCCCACAGATCCACATGTTACACTTTGAGAACTGCTGTCCTAGATGGTTGCTTACAAACAATAAGCTGTGATTGTACCACGGGCCTTGTACTTTACAGTGAGAAAGGAGAATGGTTAATCTGGAAATTCAGTAGAGACCGGCTAAGTGGAATTTCTACATAATAAAAAATTTTGCATGAATTTTAGTTATAATGGTCTCTGACTCCAAATTAAGGTTTTTGAATATTGAATTGTAGGGGGTCTGTGACTCTTTATTTCAATAGTATTTTCTGGCCTGTTTGAATTTTTGTACTAAATGTATTGATCATTTTTAATTTTGGACATTTTTTTTTCTACTAAGAATATTTCGTGGATCTTCCAGGTGTATTTTCAAGGCTTGATTTTTATCACAAGATTCTGTTGCAGAGATACAGCACACTGTGTTTAAAAAGGCTCTTTCCCCCCTTTATACATTACAGTGTCATATTTCTACTTTGTATTGCTTTTCTCTTCTAATTATTCTAAAATAATGCCTGAAAACCTTTAGGGAGAGTGAAAAGTATACAGGGTTATTATTTGGGGTAGCATTAGGGAATAGTAAAAATGGAATTCCTCATAAAAGAAAGCCCCAATTTTAATGCTGATTCAGCATGAGAAAGTTGTAGATAGAAAGCAAAACAATTAAAAAAAAAAGCTCTGTATTGGATGAATTATTCTAGATGCTTTGTAAAATTGTTAATACATAATTTACGGGCCTACCTAATTTGGGAAATAATGACTCTATTTAATTTTTAGAATATGCTCGAATTGCTGGAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAACTATTATAGATCCACTCCCAATTGTAGAAATGCCTAGTGATATAAGAGAACTCAACAAATGTGAACTTTGAAACTTACTTGGGGATAGGAGAAGAGCAAAATGTTGATCTCTATAGCCTTGGTCCTGCAGGTAGACCAGGTAATGTGAAACAACTCTGAATCAGGCTTTATATAGGTGGTTCCTAAGTCACTGGCCCCTATTGGCACTCATGTCTCATTCCTTCTTACACCAACAATCTCCAGTATGTATCTTCACCTCCTAATTTTCTCTACCCCTTAGTGAAAAGTGCCCGTTGTCTGCAGTTGCAGGCATGATCAACCTTGCATAAAGGTCATAATTATACTCCCATAAACTGTTTTGTCCTTTACTGCCATGAAGTGGGTGGTTTATAGCAATGAAAGGGAAATTACTTGCTCAGCATCAACTTTGTCTCTTCTCCTGATAATCTTTCTTGCACTGGAGAGTTTTACAGTAGTGGGACACAAATTGATACAACAATGACCCTAAATATTTATTTAAAAAATTGCAGTATTTACTTTTTGTCTTTAGATTAGCAGATAAAAGAATGCTACATTTTAATTTACCTATACACAAATGCACAAGGATATCACTTTAAAAATATTCTCACTTGTGAGAATAGTTTAAAGGTCATATGAAGAATGCCATCGTCTTTTATTCCTAGAAACAGTTTATATTTCTCTTGCATTTGACTCTCATAGCAGTTACCTTATCAAGATTGTTGGTAGCATGGGTAGATCTCCACGTCAACTGGACATCCAGTGTCTAGGGTAATGATTCTAGTAACAGTCTATACTGTAGTTTGGGGATATTAATGAGGAGCCGAGTTAGGTGCATTTCCATCATGATACTGTGATTTGATTATGTGCATAGTGAATCATTGGTTGCAAATTAATGGTAGAAACCATGATTTGAAATCTACAGATTTCACTACCTCTGCCCTTTCTCCATTTGCATCTCTACCATATGATATAGATCATGGGTATTCTACTCTAAAAATACAATTGCGAGATGCCTCCCAAGGAGAGAATTCAACTGCATTTTCTGTGAATTTCTACTTAACTCCCACCACATCTTCATAACATCCATGGAAAAAATTAGAAATCTTAATTTGACTCATCCAGTATGGCTTCAGCATTAGACATTGATAATTGTGAACCATGCAGAAAAGCTAAAGAGACGTAAATATAGAAATTATGTAGAAGAATGTAACAGAAAGCATGTCTTGTATGTCTTCTCCAGTAAATATAATGCTAGCTACTTATTCTCATGTATTTTTAAAGTATCTTGTGGGTGTAAACATTTTATATTTCTATCTCCAAAAATTTGTATTACTAGTATTTTATGAAGTAATAATAGGTTTTTGAAATGTGTTGGCCTATATTTAATTATTCTTAAAATTCTTTCAGAGATCCAACTAATCCTTTTAATACTTAAAGAGGAAAAAAATATTTTTGAAGTTGTGGTCTGCATGTTTCTGAGAAAGAAATTCATTGAAACTTTTATGTACCAGCATAAAATGTGTTACTTTATTTTTGCTGCCACAGTTTTCTATTCAAATTACTCTAGATATTTCTAATTAGATGCTATTACAGTGATCTAACAGTGTCAATCAGGAGAACATAGAACATTTTTACTAATTTTTTTTTTATCTTGACACTCCAGATATAAAACCAGAAAATCTCTTAATCAGCCACAATGATGTCCTAAAACTGTGTGACTTTGGTAAGTTAAA
|
TCTATGAATTTGTTAATTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTTGTCTCACATTTGATTAGATGGCAATAAGTTTAGTGGCTTTTCATTTATTAAGCCTTTCTAAAGTATTCAACTTTGTTTTCTTATAAACAACAACTCTTTTTTTAAAAAAACATTATTTCATTTGTTTATATGGTATTTAATTATATTAAAATAACAAGTGCATCTTTTATAAATAGGCATGGGAGTAAATACAACTGATTCTTGATAGGTATACAACTTGACTGGTGGGAACAAAACTGTGAGGCCAAATTAGAGCAGTGATTTTCTGACTGGTCTTATGGCCCCTTCACACTCTGAAAATTATTGGGAACCCTAAGAACTTTTTATTTATGTGTATTTTATCTATTAGTGTTTCTCATATTAGTCATGACTGAGCAATATAAAAATATTAGTTCATTTTAAAATAACAATAAACGTATTGCATGTTAACATAGATAAGTTTGTATGTCAGTTATTCTTTCAAGTGAAAAATGGCATTCCACATAAAAAGCAGCTCATTCAGCTTGCATCTCAATCCTCTAAGTGCTTTTCCTCAGGACAACCATTGGACAGATGGTGCATGTGCAGCAGAAGGGCTTTATGTGCAGTCTGCCATTTTATCATGCAGATTCCAAAAAAGACATGTACTCAAGAATTGAAATTTAGTCAAAGTAATATTTTGTACTGCTTCATCAAAGATGTCCTTAACTAAAACGTCTGTTTTCTTTTTTAAAGGCAAGGTTTAATTGGATTAAAGAATCCAATGCCTTGATTCATGCTGAGGTGCCAGCAGTTTACCCATTGTTGCTTTGTACCATTAGTGTAAATGCCAACACAGTGAAAAAGGCAAACATCACAGTCTTATTATGAATATAGTTTTGACTTCATGGGCCCTCCGCAAGATCTGAGACCCCACAGATCCACATGTTACACTTTGAGAACTGCTGTCCTAGATGGTTGCTTACAAACAATAAGCTGTGATTGTACCACGGGCCTTGTACTTTACAGTGAGAAAGGAGAATGGTTAATCTGGAAATTCAGTAGAGACCGGCTAAGTGGAATTTCTACATAATAAAAAATTTTGCATGAATTTTAGTTATAATGGTCTCTGACTCCAAATTAAGGTTTTTGAATATTGAATTGTAGGGGGTCTGTGACTCTTTATTTCAATAGTATTTTCTGGCCTGTTTGAATTTTTGTACTAAATGTATTGATCATTTTTAATTTTGGACATTTTTTTTTCTACTAAGAATATTTCGTGGATCTTCCAGGTGTATTTTCAAGGCTTGATTTTTATCACAAGATTCTGTTGCAGAGATACAGCACACTGTGTTTAAAAAGGCTCTTTCCCCCCTTTATACATTACAGTGTCATATTTCTACTTTGTATTGCTTTTCTCTTCTAATTATTCTAAAATAATGCCTGAAAACCTTTAGGGAGAGTGAAAAGTATACAGGGTTATTATTTGGGGTAGCATTAGGGAATAGTAAAAATGGAATTCCTCATAAAAGAAAGCCCCAATTTTAATGCTGATTCAGCATGAGAAAGTTGTAGATAGAAAGCAAAACAATTAAAAAAAAAAGCTCTGTATTGGATGAATTATTCTAGATGCTTTGTAAAATTGTTAATACATAATTTACGGGCCTACCTAATTTGGGAAATAATGACTCTATTTAATTTTTAGAATATGCTCGAATTGCTGGAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTTATCAGCTAATCAAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATATTAAAACATCAAATAAAGTTAAGAGTATTTCACATGTTACTGTCTTTAAGAATATTTTCATAAGCATTGGCATTGCCATTTAAATTAAATATATTTTGAAAGTGCAAGACATGAGAAATATTTGCTCTCCATATCTCCTTTTCTATCACCAAAAGGATGGATTACAAATTTATTTGGATATTGTGGTGAGATCTTTACATTTGTATAACTATTATAGATCCACTCCCAATTGTAGAAATGCCTAGTGATATAAGAGAACTCAACAAATGTGAACTTTGAAACTTACTTGGGGATAGGAGAAGAGCAAAATGTTGATCTCTATAGCCTTGGTCCTGCAGGTAGACCAGGTAATGTGAAACAACTCTGAATCAGGCTTTATATAGGTGGTTCCTAAGTCACTGGCCCCTATTGGCACTCATGTCTCATTCCTTCTTACACCAACAATCTCCAGTATGTATCTTCACCTCCTAATTTTCTCTACCCCTTAGTGAAAAGTGCCCGTTGTCTGCAGTTGCAGGCATGATCAACCTTGCATAAAGGTCATAATTATACTCCCATAAACTGTTTTGTCCTTTACTGCCATGAAGTGGGTGGTTTATAGCAATGAAAGGGAAATTACTTGCTCAGCATCAACTTTGTCTCTTCTCCTGATAATCTTTCTTGCACTGGAGAGTTTTACAGTAGTGGGACACAAATTGATACAACAATGACCCTAAATATTTATTTAAAAAATTGCAGTATTTACTTTTTGTCTTTAGATTAGCAGATAAAAGAATGCTACATTTTAATTTACCTATACACAAATGCACAAGGATATCACTTTAAAAATATTCTCACTTGTGAGAATAGTTTAAAGGTCATATGAAGAATGCCATCGTCTTTTATTCCTAGAAACAGTTTATATTTCTCTTGCATTTGACTCTCATAGCAGTTACCTTATCAAGATTGTTGGTAGCATGGGTAGATCTCCACGTCAACTGGACATCCAGTGTCTAGGGTAATGATTCTAGTAACAGTCTATACTGTAGTTTGGGGATATTAATGAGGAGCCGAGTTAGGTGCATTTCCATCATGATACTGTGATTTGATTATGTGCATAGTGAATCATTGGTTGCAAATTAATGGTAGAAACCATGATTTGAAATCTACAGATTTCACTACCTCTGCCCTTTCTCCATTTGCATCTCTACCATATGATATAGATCATGGGTATTCTACTCTAAAAATACAATTGCGAGATGCCTCCCAAGGAGAGAATTCAACTGCATTTTCTGTGAATTTCTACTTAACTCCCACCACATCTTCATAACATCCATGGAAAAAATTAGAAATCTTAATTTGACTCATCCAGTATGGCTTCAGCATTAGACATTGATAATTGTGAACCATGCAGAAAAGCTAAAGAGACGTAAATATAGAAATTATGTAGAAGAATGTAACAGAAAGCATGTCTTGTATGTCTTCTCCAGTAAATATAATGCTAGCTACTTATTCTCATGTATTTTTAAAGTATCTTGTGGGTGTAAACATTTTATATTTCTATCTCCAAAAATTTGTATTACTAGTATTTTATGAAGTAATAATAGGTTTTTGAAATGTGTTGGCCTATATTTAATTATTCTTAAAATTCTTTCAGAGATCCAACTAATCCTTTTAATACTTAAAGAGGAAAAAAATATTTTTGAAGTTGTGGTCTGCATGTTTCTGAGAAAGAAATTCATTGAAACTTTTATGTACCAGCATAAAATGTGTTACTTTATTTTTGCTGCCACAGTTTTCTATTCAAATTACTCTAGATATTTCTAATTAGATGCTATTACAGTGATCTAACAGTGTCAATCAGGAGAACATAGAACATTTTTACTAATTTTTTTTTTATCTTGACACTCCAGATATAAAACCAGAAAATCTCTTAATCAGCCACAATGATGTCCTAAAACTGTGTGACTTTGGTAAGTTAA
|
pathogenic
| 330,228 |
Subsets and Splits
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