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
|
|---|---|---|---|---|---|
The mutation in gene DYSF (dysferlin) at chromosome 2, position 71668823—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1']
|
GTGTGGCTTCTCTGTGCCTCAGATTTCTCTTCTATAAAATGGGGATAATAACAGCACTCAGCTTCTAGGATCCTCATGAAGACTAAATATGTTAATAGCTTGAAGAACAGTGTGTGGCACGTGGTTCCTGCTCTGGAAGTGTTTGCTGTTATTGCTATTATTTTAGCTACTGCTAATAGTAGAACAACTTAAGTGAACGAGAGCATAATACTAACAGCACTAAGATGCCAAATCTAGGAGTAAAGGTTGCTGAGGCTTAGAGTTGGGAGCAGTCAGGGAGAGCTTCCTGGAAGAAGTAGGCTTTGGAGACAGGAGGATTTGTATGGTGGAAAATAGGAATAAAAACTATAGAACAGGCTTGGTAGAAATGATGGCAATGGGGAATCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCG
|
GTGTGGCTTCTCTGTGCCTCAGATTTCTCTTCTATAAAATGGGGATAATAACAGCACTCAGCTTCTAGGATCCTCATGAAGACTAAATATGTTAATAGCTTGAAGAACAGTGTGTGGCACGTGGTTCCTGCTCTGGAAGTGTTTGCTGTTATTGCTATTATTTTAGCTACTGCTAATAGTAGAACAACTTAAGTGAACGAGAGCATAATACTAACAGCACTAAGATGCCAAATCTAGGAGTAAAGGTTGCTGAGGCTTAGAGTTGGGAGCAGTCAGGGAGAGCTTCCTGGAAGAAGTAGGCTTTGGAGACAGGAGGATTTGTATGGTGGAAAATAGGAATAAAAACTATAGAACAGGCTTGGTAGAAATGATGGCAATGGGGAATCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCC
|
pathogenic
| 39,040 |
Variant at chromosome position 71669611, chromosome 2, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Qualitative_or_quantitative_defects_of_dysferlin']
|
CCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAG
|
CCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGTTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGN
|
pathogenic
| 39,053 |
Determine whether the variant at chromosome 2, position 71669671, in gene DYSF (dysferlin) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin']
|
CAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGG
|
CAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGN
|
pathogenic
| 39,055 |
Does the variant on chromosome 2 at location 71669718 affecting gene DYSF (dysferlin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1']
|
TGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGGCAGTTCTGGGGACCCAGTTGTGGTTGCTGATTAAGAAT
|
TGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGGCAGTTCTGGGGACCCAGTTGTGGTTGCTGATTAAGAATN
|
pathogenic
| 39,057 |
Chromosome 2, position 71669723, gene DYSF (dysferlin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Qualitative_or_quantitative_defects_of_dysferlin']
|
TGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGGCAGTTCTGGGGACCCAGTTGTGGTTGCTGATTAAGAATTTGGG
|
TGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGGCAGTTCTGGGGACCCAGTTGTGGTTGCTGATTAAGAATTTGGGN
|
pathogenic
| 39,059 |
A genetic variant on chromosome 2, position 71674223, affects the gene DYSF (dysferlin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin']
|
TGGCTCGGCCGAAGGCGGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAACCACCACTGGTTGCCCCGGCCAGGCTCCCCACCTGGAGCCCAGCACACCCTGCACGTCAGGCACCCACCCTGCAAATAAACAGCTAGTAAAAGCGCCCAGGCCAGGAGCATAATGAGCGCCTGGGACCTGGGGGGGTTCATTCCCCAGGCTGGAGCCCCAGCCCAGCTGCTCCCACCAGGGGCCGTTTGAACCTCTGGCTCATTACCGAGCCCATAAACCAAGCTGGCCAGAGGAATGGAGGCTGCTGGCGGGCCATGCAGGCGGGCCTGCGGAGCTGGCCATAAAAGCTCGCCAGAGGAGGGAGGCACCTGCAGAAGGGCTGGGGCCCGGAAAAGGGGGGAGGCACCAGACAGAGGGCTGGAGGTGAGGGGCCAGCTGGAGACCTGAGCCCCTTCCCCAACCCAGGCAGCAGTCCAGGCCGTGGCTGGGTGCTTTGCACGGGGACTAGTCCTCACGGGGCAGGGGTCATGGTCTTCGGTTCGGGAGCTCACTGGGATTTCCGTGGCCAACCTCTGAGGCTGGGGTGGCCACACAGCAGGCCCTGGCTGGACAGCAAGGGTGGGTTTACCAGGCATTTGGTGGAGCTTTTCCCCTGCAGAGTTGGGTCCAGGCCCTTGCTCTGACCCGGCACTCAGGACTTGGCACCCACCATCTGCAGGGTGGTCACACTGTTTCCTGTCCTTGCCACTCACCCAGGGGAGAGTTATAGTGAGAAAACAGAGAACAAGACTGCGCTGGAAAGCCCTAGTGACAGTGCTGTGGGTTGAGTGTGGCTGGACTGAGGGGTGCTCCCCGGCCTCCGCATGTGCAGTCCCACACCGCTCAGTTGCTCCATGAAGCCTCAGTGGGAGGAAGCCCAAGATGACCTTGTTCCAGGCGAGCTGGTCTGAGGGAGGTGGGGTGGGGAGAGAAGGGCCCCTCCTCTCCTTTCAGCAGGAGACGGAACTTCCCAGCACTTCAGGCTTTGGCTTTGCCCTGGGTCAAGCTCTTGGAGTGAAGTTGGGTGGGGTGGAGAGGGAGGAGCTGGGGTCTAGATTCCAGTGCCAGCTCCTTACAGCAGCGTGCTGGGAGATCCTTCTATGACAGCCAGGGTAGGGTGGGGTCCCTCAGGGTCTCAGTTACCCCACCCTGACCCTGAGATGCCAGGTACAGAGCAAGGTTTAAGGTAGAGAGCAGGACTCTGGAACCCAGCTGCCAGGGTTTGAGTCCAGCTTGCCACTTCCTAGCTATGTGGTCTTGGACAAATTACTTGCTTTGGTCTCCTCCACTGTAAAGATAGTATCTCCTTTACAGGTGGTTGGAAGGATAAATGAGTTCATAGCAGTAGAGGGCCAACGCATAGGAAGCACTATATTAATGTTATTATTATTAGTGGTCAGACCTCAGGCACATTCCTTTAACTTCTCCAAGCCTCACCTTCATCATCTGTAAAATGGGAGTGATAACCTTGACTTACAGAGTTGGGAGGATTAATGGAGCCATCTTATGTGAACTGAGCCTGCACGGTGCCCTTTTGGGCCCTTGAACACTGCCTTCTGGGATCTGTCCTTCCCAGTCTTCCCACAGGACCTGGCTCTGGCAGGTCCCTTGGGGACATCCTACTCCTCTGCCTCCTCCAGGCAGCCTTCCAGGCTGGAAGGGAACACTGCCTCTCTCTAACCTTGCTTCCTTGCATCCTTCTCTGTTCCTCTTCCGGGTCAGGATGCCTTCTGGAGGCTGGACAAGACTGAGAGCAAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGGGTAAGCGCTATTGCTAGAATCCCATTCTGCACATGGGGGCTGCCCCAGAACCCACACTGTGTGTTTATGCCACTGTTGGACCCTTGGGGAAGCCTAGCAGGAGGAGTGATCCCACTTTCTGCTTTCAGGGAGCTCAGGGTCATGTGTCCCCAGTGTTAAGTGAGGTGTATGACACACAGCAGTGTCAGAGTGATTGGTGGCCACTGAGGGTGGGCCTGTCAGTAGAGGTGGCACTGAACACTGGGCCATGTTGGATGATGGGACTCAGATATGTAAGTAAGCGAGGGACGCAAGTGTGTGCTGCCTGTCGCCAGCTGTCTGGCCTCACATTTGACACAGACTGAGCCCTGTGAGTGAGGGTCTCAAGTCAGTCTTCATCCTTGTGCCTGTGTGACCGACTGAGTGAACAAACCCAGGCTCTATCCCCATTACCCCCAGACAGGGTTCTAGTGGGAAGGGCTGTGATGAAATCTGGGACTGGGGAGCAGGGAGGCTGGGTTGAATGGAAGGTGGTGATGGTGGCCTTGTAGGGTTAGGATATGGGGACAAGGAGGAAGACATTGTATGGGGCCTGCACGCTCATCTGTGAGAGCAGTGAGTTCAAGATAGCCCTGTCATGGCTATAAAGGTTAACTCTGGAAAATGTGGTCTATCCATACAATGGGAGAGTATTCAGCCATGAAAGCAATGAAATACTGATACATACTACACTGTAGGTGAACCTGAAAACATGCCAGGTGAAAGCAGCCAGACACAAAAGGTCAAATATTATATGGCTTCATGTATATGAAATGTCCATAATAGGCAAATCCATAGAGACGGAAAATAGGTTAGTGGTTGCTAGGGATTGGGGGAGGGGGGATGGGGAGTGACTGTGATGGGTAAGAGGTTTCTTTTTGCGGTGATGGAAAGGTTCTGGAATTAGATGGTGGTGAAGGTTGCACAACTCTGTGAATATACTCAAAGGCACTGATTTGTACACTTAAAGTGGTTAAAGTGGTGCATTTATGTGAGGTGGATTTTACCTTGATTAAAAAATAAAGCGAGCTTGTGAAAACGGCAACCCAGGAAGTCAGGATCCCTGGTTTCTAGATCCATTCTGCCACTTGGGAGCAGGGTGGCCTGGAGCCCTCTTGGGGTAGCCCTTGACTGGAGAAGGTGAGTCGTTCTTAGCTGAGCCCTGGGGCCCCTGCAGGGGATATTCTGAGGCGCGGCTTCCGGCAGTGGGGAGAAGGCTGCCTGTTCACTTGACTGTTCCCCCGCCCTGCGCACCTGGCCTGGCCAAATGCCCAGAGAACTTTGTTATAAAAGCATCAGGTGCAAAAAGCGTGGCACCAAGTTTGACTTCTATTATTTTACTTATTATTTTGTACATAATTCCTGTAGAGGAATTAGAAAATGCAGGTAAGGAATTAGAAAATGCAGGTAAGCAATGCTTCCTCCCCACCTTAATCTCACCACCCAATTTCTACTAACATTTTGGCATGTATTATTGTATTATATATTATTTGAGACTTAAACAAACATAAGTATTTTATATATGTATTTATATATACACATGTACATGCATACATATATAATATATACATATATTCATATGTATATGAATGGATTTCTATTACACAGACTGTTTTATATCCTGATTTTTGAAAAACCTAATATTCCAAGAACATCCTTTCTGGTCAGTAGGTATCGATCTGCATTTATATCTCCATCATCACACTTAATGCCTGCCTATGTTTTGTCATAGACGTGGGCCCTGTTTTGATTAATCCTCTCCTGGTGGGTATTCAGGTCATCTCCAGGTTTCCCAATGTGAGTAACACCCTCGGCATATGCACATCCTTCGATCCTTTGTGCATATCTTTCCTTAACTCTGAGAAGTAGATATGTCTTTGTACATTTTAATGGCTTTTGAAACATTTTGTTCAGTTGCCCTCTAGAAAGGTTTTACTTGTTTATACTCCCACCTGT
|
TGGCTCGGCCGAAGGCGGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAACCACCACTGGTTGCCCCGGCCAGGCTCCCCACCTGGAGCCCAGCACACCCTGCACGTCAGGCACCCACCCTGCAAATAAACAGCTAGTAAAAGCGCCCAGGCCAGGAGCATAATGAGCGCCTGGGACCTGGGGGGGTTCATTCCCCAGGCTGGAGCCCCAGCCCAGCTGCTCCCACCAGGGGCCGTTTGAACCTCTGGCTCATTACCGAGCCCATAAACCAAGCTGGCCAGAGGAATGGAGGCTGCTGGCGGGCCATGCAGGCGGGCCTGCGGAGCTGGCCATAAAAGCTCGCCAGAGGAGGGAGGCACCTGCAGAAGGGCTGGGGCCCGGAAAAGGGGGGAGGCACCAGACAGAGGGCTGGAGGTGAGGGGCCAGCTGGAGACCTGAGCCCCTTCCCCAACCCAGGCAGCAGTCCAGGCCGTGGCTGGGTGCTTTGCACGGGGACTAGTCCTCACGGGGCAGGGGTCATGGTCTTCGGTTCGGGAGCTCACTGGGATTTCCGTGGCCAACCTCTGAGGCTGGGGTGGCCACACAGCAGGCCCTGGCTGGACAGCAAGGGTGGGTTTACCAGGCATTTGGTGGAGCTTTTCCCCTGCAGAGTTGGGTCCAGGCCCTTGCTCTGACCCGGCACTCAGGACTTGGCACCCACCATCTGCAGGGTGGTCACACTGTTTCCTGTCCTTGCCACTCACCCAGGGGAGAGTTATAGTGAGAAAACAGAGAACAAGACTGCGCTGGAAAGCCCTAGTGACAGTGCTGTGGGTTGAGTGTGGCTGGACTGAGGGGTGCTCCCCGGCCTCCGCATGTGCAGTCCCACACCGCTCAGTTGCTCCATGAAGCCTCAGTGGGAGGAAGCCCAAGATGACCTTGTTCCAGGCGAGCTGGTCTGAGGGAGGTGGGGTGGGGAGAGAAGGGCCCCTCCTCTCCTTTCAGCAGGAGACGGAACTTCCCAGCACTTCAGGCTTTGGCTTTGCCCTGGGTCAAGCTCTTGGAGTGAAGTTGGGTGGGGTGGAGAGGGAGGAGCTGGGGTCTAGATTCCAGTGCCAGCTCCTTACAGCAGCGTGCTGGGAGATCCTTCTATGACAGCCAGGGTAGGGTGGGGTCCCTCAGGGTCTCAGTTACCCCACCCTGACCCTGAGATGCCAGGTACAGAGCAAGGTTTAAGGTAGAGAGCAGGACTCTGGAACCCAGCTGCCAGGGTTTGAGTCCAGCTTGCCACTTCCTAGCTATGTGGTCTTGGACAAATTACTTGCTTTGGTCTCCTCCACTGTAAAGATAGTATCTCCTTTACAGGTGGTTGGAAGGATAAATGAGTTCATAGCAGTAGAGGGCCAACGCATAGGAAGCACTATATTAATGTTATTATTATTAGTGGTCAGACCTCAGGCACATTCCTTTAACTTCTCCAAGCCTCACCTTCATCATCTGTAAAATGGGAGTGATAACCTTGACTTACAGAGTTGGGAGGATTAATGGAGCCATCTTATGTGAACTGAGCCTGCACGGTGCCCTTTTGGGCCCTTGAACACTGCCTTCTGGGATCTGTCCTTCCCAGTCTTCCCACAGGACCTGGCTCTGGCAGGTCCCTTGGGGACATCCTACTCCTCTGCCTCCTCCAGGCAGCCTTCCAGGCTGGAAGGGAACACTGCCTCTCTCTAACCTTGCTTCCTTGCATCCTTCTCTGTTCCTCTTCCGGGTCAGGATGCCTTCTGGAGGCTGGACAAGACTGAGCAAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGGGTAAGCGCTATTGCTAGAATCCCATTCTGCACATGGGGGCTGCCCCAGAACCCACACTGTGTGTTTATGCCACTGTTGGACCCTTGGGGAAGCCTAGCAGGAGGAGTGATCCCACTTTCTGCTTTCAGGGAGCTCAGGGTCATGTGTCCCCAGTGTTAAGTGAGGTGTATGACACACAGCAGTGTCAGAGTGATTGGTGGCCACTGAGGGTGGGCCTGTCAGTAGAGGTGGCACTGAACACTGGGCCATGTTGGATGATGGGACTCAGATATGTAAGTAAGCGAGGGACGCAAGTGTGTGCTGCCTGTCGCCAGCTGTCTGGCCTCACATTTGACACAGACTGAGCCCTGTGAGTGAGGGTCTCAAGTCAGTCTTCATCCTTGTGCCTGTGTGACCGACTGAGTGAACAAACCCAGGCTCTATCCCCATTACCCCCAGACAGGGTTCTAGTGGGAAGGGCTGTGATGAAATCTGGGACTGGGGAGCAGGGAGGCTGGGTTGAATGGAAGGTGGTGATGGTGGCCTTGTAGGGTTAGGATATGGGGACAAGGAGGAAGACATTGTATGGGGCCTGCACGCTCATCTGTGAGAGCAGTGAGTTCAAGATAGCCCTGTCATGGCTATAAAGGTTAACTCTGGAAAATGTGGTCTATCCATACAATGGGAGAGTATTCAGCCATGAAAGCAATGAAATACTGATACATACTACACTGTAGGTGAACCTGAAAACATGCCAGGTGAAAGCAGCCAGACACAAAAGGTCAAATATTATATGGCTTCATGTATATGAAATGTCCATAATAGGCAAATCCATAGAGACGGAAAATAGGTTAGTGGTTGCTAGGGATTGGGGGAGGGGGGATGGGGAGTGACTGTGATGGGTAAGAGGTTTCTTTTTGCGGTGATGGAAAGGTTCTGGAATTAGATGGTGGTGAAGGTTGCACAACTCTGTGAATATACTCAAAGGCACTGATTTGTACACTTAAAGTGGTTAAAGTGGTGCATTTATGTGAGGTGGATTTTACCTTGATTAAAAAATAAAGCGAGCTTGTGAAAACGGCAACCCAGGAAGTCAGGATCCCTGGTTTCTAGATCCATTCTGCCACTTGGGAGCAGGGTGGCCTGGAGCCCTCTTGGGGTAGCCCTTGACTGGAGAAGGTGAGTCGTTCTTAGCTGAGCCCTGGGGCCCCTGCAGGGGATATTCTGAGGCGCGGCTTCCGGCAGTGGGGAGAAGGCTGCCTGTTCACTTGACTGTTCCCCCGCCCTGCGCACCTGGCCTGGCCAAATGCCCAGAGAACTTTGTTATAAAAGCATCAGGTGCAAAAAGCGTGGCACCAAGTTTGACTTCTATTATTTTACTTATTATTTTGTACATAATTCCTGTAGAGGAATTAGAAAATGCAGGTAAGGAATTAGAAAATGCAGGTAAGCAATGCTTCCTCCCCACCTTAATCTCACCACCCAATTTCTACTAACATTTTGGCATGTATTATTGTATTATATATTATTTGAGACTTAAACAAACATAAGTATTTTATATATGTATTTATATATACACATGTACATGCATACATATATAATATATACATATATTCATATGTATATGAATGGATTTCTATTACACAGACTGTTTTATATCCTGATTTTTGAAAAACCTAATATTCCAAGAACATCCTTTCTGGTCAGTAGGTATCGATCTGCATTTATATCTCCATCATCACACTTAATGCCTGCCTATGTTTTGTCATAGACGTGGGCCCTGTTTTGATTAATCCTCTCCTGGTGGGTATTCAGGTCATCTCCAGGTTTCCCAATGTGAGTAACACCCTCGGCATATGCACATCCTTCGATCCTTTGTGCATATCTTTCCTTAACTCTGAGAAGTAGATATGTCTTTGTACATTTTAATGGCTTTTGAAACATTTTGTTCAGTTGCCCTCTAGAAAGGTTTTACTTGTTTATACTCCCACCTGTNN
|
pathogenic
| 39,065 |
Regarding the variant at chromosome 2 and position 71674239, affecting gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin']
|
GGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAACCACCACTGGTTGCCCCGGCCAGGCTCCCCACCTGGAGCCCAGCACACCCTGCACGTCAGGCACCCACCCTGCAAATAAACAGCTAGTAAAAGCGCCCAGGCCAGGAGCATAATGAGCGCCTGGGACCTGGGGGGGTTCATTCCCCAGGCTGGAGCCCCAGCCCAGCTGCTCCCACCAGGGGCCGTTTGAACCTCTGGCTCATTACCGAGCCCATAAACCAAGCTGGCCAGAGGAATGGAGGCTGCTGGCGGGCCATGCAGGCGGGCCTGCGGAGCTGGCCATAAAAGCTCGCCAGAGGAGGGAGGCACCTGCAGAAGGGCTGGGGCCCGGAAAAGGGGGGAGGCACCAGACAGAGGGCTGGAGGTGAGGGGCCAGCTGGAGACCTGAGCCCCTTCCCCAACCCAGGCAGCAGTCCAGGCCGTGGCTGGGTGCTTTGCACGGGGACTAGTCCTCACGGGGCAGGGGTCATGGTCTTCGGTTCGGGAGCTCACTGGGATTTCCGTGGCCAACCTCTGAGGCTGGGGTGGCCACACAGCAGGCCCTGGCTGGACAGCAAGGGTGGGTTTACCAGGCATTTGGTGGAGCTTTTCCCCTGCAGAGTTGGGTCCAGGCCCTTGCTCTGACCCGGCACTCAGGACTTGGCACCCACCATCTGCAGGGTGGTCACACTGTTTCCTGTCCTTGCCACTCACCCAGGGGAGAGTTATAGTGAGAAAACAGAGAACAAGACTGCGCTGGAAAGCCCTAGTGACAGTGCTGTGGGTTGAGTGTGGCTGGACTGAGGGGTGCTCCCCGGCCTCCGCATGTGCAGTCCCACACCGCTCAGTTGCTCCATGAAGCCTCAGTGGGAGGAAGCCCAAGATGACCTTGTTCCAGGCGAGCTGGTCTGAGGGAGGTGGGGTGGGGAGAGAAGGGCCCCTCCTCTCCTTTCAGCAGGAGACGGAACTTCCCAGCACTTCAGGCTTTGGCTTTGCCCTGGGTCAAGCTCTTGGAGTGAAGTTGGGTGGGGTGGAGAGGGAGGAGCTGGGGTCTAGATTCCAGTGCCAGCTCCTTACAGCAGCGTGCTGGGAGATCCTTCTATGACAGCCAGGGTAGGGTGGGGTCCCTCAGGGTCTCAGTTACCCCACCCTGACCCTGAGATGCCAGGTACAGAGCAAGGTTTAAGGTAGAGAGCAGGACTCTGGAACCCAGCTGCCAGGGTTTGAGTCCAGCTTGCCACTTCCTAGCTATGTGGTCTTGGACAAATTACTTGCTTTGGTCTCCTCCACTGTAAAGATAGTATCTCCTTTACAGGTGGTTGGAAGGATAAATGAGTTCATAGCAGTAGAGGGCCAACGCATAGGAAGCACTATATTAATGTTATTATTATTAGTGGTCAGACCTCAGGCACATTCCTTTAACTTCTCCAAGCCTCACCTTCATCATCTGTAAAATGGGAGTGATAACCTTGACTTACAGAGTTGGGAGGATTAATGGAGCCATCTTATGTGAACTGAGCCTGCACGGTGCCCTTTTGGGCCCTTGAACACTGCCTTCTGGGATCTGTCCTTCCCAGTCTTCCCACAGGACCTGGCTCTGGCAGGTCCCTTGGGGACATCCTACTCCTCTGCCTCCTCCAGGCAGCCTTCCAGGCTGGAAGGGAACACTGCCTCTCTCTAACCTTGCTTCCTTGCATCCTTCTCTGTTCCTCTTCCGGGTCAGGATGCCTTCTGGAGGCTGGACAAGACTGAGAGCAAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGGGTAAGCGCTATTGCTAGAATCCCATTCTGCACATGGGGGCTGCCCCAGAACCCACACTGTGTGTTTATGCCACTGTTGGACCCTTGGGGAAGCCTAGCAGGAGGAGTGATCCCACTTTCTGCTTTCAGGGAGCTCAGGGTCATGTGTCCCCAGTGTTAAGTGAGGTGTATGACACACAGCAGTGTCAGAGTGATTGGTGGCCACTGAGGGTGGGCCTGTCAGTAGAGGTGGCACTGAACACTGGGCCATGTTGGATGATGGGACTCAGATATGTAAGTAAGCGAGGGACGCAAGTGTGTGCTGCCTGTCGCCAGCTGTCTGGCCTCACATTTGACACAGACTGAGCCCTGTGAGTGAGGGTCTCAAGTCAGTCTTCATCCTTGTGCCTGTGTGACCGACTGAGTGAACAAACCCAGGCTCTATCCCCATTACCCCCAGACAGGGTTCTAGTGGGAAGGGCTGTGATGAAATCTGGGACTGGGGAGCAGGGAGGCTGGGTTGAATGGAAGGTGGTGATGGTGGCCTTGTAGGGTTAGGATATGGGGACAAGGAGGAAGACATTGTATGGGGCCTGCACGCTCATCTGTGAGAGCAGTGAGTTCAAGATAGCCCTGTCATGGCTATAAAGGTTAACTCTGGAAAATGTGGTCTATCCATACAATGGGAGAGTATTCAGCCATGAAAGCAATGAAATACTGATACATACTACACTGTAGGTGAACCTGAAAACATGCCAGGTGAAAGCAGCCAGACACAAAAGGTCAAATATTATATGGCTTCATGTATATGAAATGTCCATAATAGGCAAATCCATAGAGACGGAAAATAGGTTAGTGGTTGCTAGGGATTGGGGGAGGGGGGATGGGGAGTGACTGTGATGGGTAAGAGGTTTCTTTTTGCGGTGATGGAAAGGTTCTGGAATTAGATGGTGGTGAAGGTTGCACAACTCTGTGAATATACTCAAAGGCACTGATTTGTACACTTAAAGTGGTTAAAGTGGTGCATTTATGTGAGGTGGATTTTACCTTGATTAAAAAATAAAGCGAGCTTGTGAAAACGGCAACCCAGGAAGTCAGGATCCCTGGTTTCTAGATCCATTCTGCCACTTGGGAGCAGGGTGGCCTGGAGCCCTCTTGGGGTAGCCCTTGACTGGAGAAGGTGAGTCGTTCTTAGCTGAGCCCTGGGGCCCCTGCAGGGGATATTCTGAGGCGCGGCTTCCGGCAGTGGGGAGAAGGCTGCCTGTTCACTTGACTGTTCCCCCGCCCTGCGCACCTGGCCTGGCCAAATGCCCAGAGAACTTTGTTATAAAAGCATCAGGTGCAAAAAGCGTGGCACCAAGTTTGACTTCTATTATTTTACTTATTATTTTGTACATAATTCCTGTAGAGGAATTAGAAAATGCAGGTAAGGAATTAGAAAATGCAGGTAAGCAATGCTTCCTCCCCACCTTAATCTCACCACCCAATTTCTACTAACATTTTGGCATGTATTATTGTATTATATATTATTTGAGACTTAAACAAACATAAGTATTTTATATATGTATTTATATATACACATGTACATGCATACATATATAATATATACATATATTCATATGTATATGAATGGATTTCTATTACACAGACTGTTTTATATCCTGATTTTTGAAAAACCTAATATTCCAAGAACATCCTTTCTGGTCAGTAGGTATCGATCTGCATTTATATCTCCATCATCACACTTAATGCCTGCCTATGTTTTGTCATAGACGTGGGCCCTGTTTTGATTAATCCTCTCCTGGTGGGTATTCAGGTCATCTCCAGGTTTCCCAATGTGAGTAACACCCTCGGCATATGCACATCCTTCGATCCTTTGTGCATATCTTTCCTTAACTCTGAGAAGTAGATATGTCTTTGTACATTTTAATGGCTTTTGAAACATTTTGTTCAGTTGCCCTCTAGAAAGGTTTTACTTGTTTATACTCCCACCTGTGCCCTGTTTGTACAGG
|
GGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAACCACCACTGGTTGCCCCGGCCAGGCTCCCCACCTGGAGCCCAGCACACCCTGCACGTCAGGCACCCACCCTGCAAATAAACAGCTAGTAAAAGCGCCCAGGCCAGGAGCATAATGAGCGCCTGGGACCTGGGGGGGTTCATTCCCCAGGCTGGAGCCCCAGCCCAGCTGCTCCCACCAGGGGCCGTTTGAACCTCTGGCTCATTACCGAGCCCATAAACCAAGCTGGCCAGAGGAATGGAGGCTGCTGGCGGGCCATGCAGGCGGGCCTGCGGAGCTGGCCATAAAAGCTCGCCAGAGGAGGGAGGCACCTGCAGAAGGGCTGGGGCCCGGAAAAGGGGGGAGGCACCAGACAGAGGGCTGGAGGTGAGGGGCCAGCTGGAGACCTGAGCCCCTTCCCCAACCCAGGCAGCAGTCCAGGCCGTGGCTGGGTGCTTTGCACGGGGACTAGTCCTCACGGGGCAGGGGTCATGGTCTTCGGTTCGGGAGCTCACTGGGATTTCCGTGGCCAACCTCTGAGGCTGGGGTGGCCACACAGCAGGCCCTGGCTGGACAGCAAGGGTGGGTTTACCAGGCATTTGGTGGAGCTTTTCCCCTGCAGAGTTGGGTCCAGGCCCTTGCTCTGACCCGGCACTCAGGACTTGGCACCCACCATCTGCAGGGTGGTCACACTGTTTCCTGTCCTTGCCACTCACCCAGGGGAGAGTTATAGTGAGAAAACAGAGAACAAGACTGCGCTGGAAAGCCCTAGTGACAGTGCTGTGGGTTGAGTGTGGCTGGACTGAGGGGTGCTCCCCGGCCTCCGCATGTGCAGTCCCACACCGCTCAGTTGCTCCATGAAGCCTCAGTGGGAGGAAGCCCAAGATGACCTTGTTCCAGGCGAGCTGGTCTGAGGGAGGTGGGGTGGGGAGAGAAGGGCCCCTCCTCTCCTTTCAGCAGGAGACGGAACTTCCCAGCACTTCAGGCTTTGGCTTTGCCCTGGGTCAAGCTCTTGGAGTGAAGTTGGGTGGGGTGGAGAGGGAGGAGCTGGGGTCTAGATTCCAGTGCCAGCTCCTTACAGCAGCGTGCTGGGAGATCCTTCTATGACAGCCAGGGTAGGGTGGGGTCCCTCAGGGTCTCAGTTACCCCACCCTGACCCTGAGATGCCAGGTACAGAGCAAGGTTTAAGGTAGAGAGCAGGACTCTGGAACCCAGCTGCCAGGGTTTGAGTCCAGCTTGCCACTTCCTAGCTATGTGGTCTTGGACAAATTACTTGCTTTGGTCTCCTCCACTGTAAAGATAGTATCTCCTTTACAGGTGGTTGGAAGGATAAATGAGTTCATAGCAGTAGAGGGCCAACGCATAGGAAGCACTATATTAATGTTATTATTATTAGTGGTCAGACCTCAGGCACATTCCTTTAACTTCTCCAAGCCTCACCTTCATCATCTGTAAAATGGGAGTGATAACCTTGACTTACAGAGTTGGGAGGATTAATGGAGCCATCTTATGTGAACTGAGCCTGCACGGTGCCCTTTTGGGCCCTTGAACACTGCCTTCTGGGATCTGTCCTTCCCAGTCTTCCCACAGGACCTGGCTCTGGCAGGTCCCTTGGGGACATCCTACTCCTCTGCCTCCTCCAGGCAGCCTTCCAGGCTGGAAGGGAACACTGCCTCTCTCTAACCTTGCTTCCTTGCATCCTTCTCTGTTCCTCTTCCGGGTCAGGATGCCTTCTGGAGGCTGGACAAGACTGAGAGCAAAATCCCAGCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGGGTAAGCGCTATTGCTAGAATCCCATTCTGCACATGGGGGCTGCCCCAGAACCCACACTGTGTGTTTATGCCACTGTTGGACCCTTGGGGAAGCCTAGCAGGAGGAGTGATCCCACTTTCTGCTTTCAGGGAGCTCAGGGTCATGTGTCCCCAGTGTTAAGTGAGGTGTATGACACACAGCAGTGTCAGAGTGATTGGTGGCCACTGAGGGTGGGCCTGTCAGTAGAGGTGGCACTGAACACTGGGCCATGTTGGATGATGGGACTCAGATATGTAAGTAAGCGAGGGACGCAAGTGTGTGCTGCCTGTCGCCAGCTGTCTGGCCTCACATTTGACACAGACTGAGCCCTGTGAGTGAGGGTCTCAAGTCAGTCTTCATCCTTGTGCCTGTGTGACCGACTGAGTGAACAAACCCAGGCTCTATCCCCATTACCCCCAGACAGGGTTCTAGTGGGAAGGGCTGTGATGAAATCTGGGACTGGGGAGCAGGGAGGCTGGGTTGAATGGAAGGTGGTGATGGTGGCCTTGTAGGGTTAGGATATGGGGACAAGGAGGAAGACATTGTATGGGGCCTGCACGCTCATCTGTGAGAGCAGTGAGTTCAAGATAGCCCTGTCATGGCTATAAAGGTTAACTCTGGAAAATGTGGTCTATCCATACAATGGGAGAGTATTCAGCCATGAAAGCAATGAAATACTGATACATACTACACTGTAGGTGAACCTGAAAACATGCCAGGTGAAAGCAGCCAGACACAAAAGGTCAAATATTATATGGCTTCATGTATATGAAATGTCCATAATAGGCAAATCCATAGAGACGGAAAATAGGTTAGTGGTTGCTAGGGATTGGGGGAGGGGGGATGGGGAGTGACTGTGATGGGTAAGAGGTTTCTTTTTGCGGTGATGGAAAGGTTCTGGAATTAGATGGTGGTGAAGGTTGCACAACTCTGTGAATATACTCAAAGGCACTGATTTGTACACTTAAAGTGGTTAAAGTGGTGCATTTATGTGAGGTGGATTTTACCTTGATTAAAAAATAAAGCGAGCTTGTGAAAACGGCAACCCAGGAAGTCAGGATCCCTGGTTTCTAGATCCATTCTGCCACTTGGGAGCAGGGTGGCCTGGAGCCCTCTTGGGGTAGCCCTTGACTGGAGAAGGTGAGTCGTTCTTAGCTGAGCCCTGGGGCCCCTGCAGGGGATATTCTGAGGCGCGGCTTCCGGCAGTGGGGAGAAGGCTGCCTGTTCACTTGACTGTTCCCCCGCCCTGCGCACCTGGCCTGGCCAAATGCCCAGAGAACTTTGTTATAAAAGCATCAGGTGCAAAAAGCGTGGCACCAAGTTTGACTTCTATTATTTTACTTATTATTTTGTACATAATTCCTGTAGAGGAATTAGAAAATGCAGGTAAGGAATTAGAAAATGCAGGTAAGCAATGCTTCCTCCCCACCTTAATCTCACCACCCAATTTCTACTAACATTTTGGCATGTATTATTGTATTATATATTATTTGAGACTTAAACAAACATAAGTATTTTATATATGTATTTATATATACACATGTACATGCATACATATATAATATATACATATATTCATATGTATATGAATGGATTTCTATTACACAGACTGTTTTATATCCTGATTTTTGAAAAACCTAATATTCCAAGAACATCCTTTCTGGTCAGTAGGTATCGATCTGCATTTATATCTCCATCATCACACTTAATGCCTGCCTATGTTTTGTCATAGACGTGGGCCCTGTTTTGATTAATCCTCTCCTGGTGGGTATTCAGGTCATCTCCAGGTTTCCCAATGTGAGTAACACCCTCGGCATATGCACATCCTTCGATCCTTTGTGCATATCTTTCCTTAACTCTGAGAAGTAGATATGTCTTTGTACATTTTAATGGCTTTTGAAACATTTTGTTCAGTTGCCCTCTAGAAAGGTTTTACTTGTTTATACTCCCACCTGTGCCCTGTTTGTACAGGNNNNNNNNNNNNNN
|
pathogenic
| 39,066 |
Variant in DYSF (dysferlin), chromosome 2, position 71679123—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'DYSF-related_disorder', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin']
|
ATATACAGTTGAATAAGTGGACAGACAGGTGGAATAATAACCTGATTAATGGATAGATATAGTGCTTAACAAATGGTAGCTATAGAGGAATGTGGATAGTTAGGTCAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCTATGCTCCAATCCCATTGACTTTATCAGATTATGATTAGATTAGGCGAAACCACATGAAATTGCTGTTTAAATGGGTCAAAGATAGTTAAATACAAGAATTTTCATATGGTTCAACCTAATAGCTGAAGGTATCCTGGGAGATGATAGATAAAAGGGATGATTAGATAAAACAATAAAAAAAGATGGCTGCTTGGATAACTAGGTGGTAGATGAAAAAGACTGTTGGATGAACCACAGTGAGGTACCACTTCACACCTACTAAGATAATAGTAATAATAATAAACCAGAATATAGCAAGTGTTTTGAGGATGTGGAGAAATTGCTGGTGTGCTGGGACATTGGTGGTTTGAGTGTAAAATGATTCGGCTGCTGTGGAAAACTGTTTGGCAGTTCCTTGAAAAGCTGATCATAGAATTGCTAATGAACAAAGAATCCTACTCCAGGTGTGTGTGTACCCCAAAGAATTGAAAACAGGGACTCAGACATTTGTGTGCTAACGTTCACTGCAACATTATTCATAATATGAAGTTAAAAGATGGGAACACCTCAAGTGTCCATCAACAGATGAATGAATGAACAAAGTGTGGTACAGGTTAAATATAACTTATCTGAAATGCTTGGAACAGAAGTGTTTCAGATTTCTGATGCTTTTTGGATTTTGGAATAATTGCATATACTTAATAAGATATCTTTGGGATAGGACCCAAATCTAAATACAAAATTTTTTTCATATATACTTTGTAAGCATAGCCTGAAGGGAATTTTATAGAATATTTAAGATAATTTTATGCATGAAACAAAGTTTAAGTACGTATGTGTGGAGTTTTCCACTTGTAGCATTATGTTGGCAATCAGAAACTTTCAGACTTTGGAGCATTTCAAATTTCAGATTTTCAGATTATGCATGTTCAACCCGTATATGCCTAGAATGGAATCTTACTCAACCATAAAAAAAATACAGATTAAAAAAACACTACTGATATATACAACAAGGATGAACCCTGAAAACATTATGGAAATCAAAATAAGCCAGACACAAAAGAACAAATATTGTATGATTCCACTTATATGAAATATCTAGAATAGACAAATTCATAGAGACAGAAAGTAGACTAGAGGTTACTGGGGCGAAGGGGAGGGAGGAATGGGGAGTTATTGCTTAATGGGTGCAGAGTTTTTGTTTGGGGGATGGAAAAGTTTTAGAAATAGTAGTGATGGTTGTACAGCATTGTGGCTGTAATTAAAGCCACTGAATTGTACACTTAACATGGTTAAAATAACAAATTTCATGTTATATGTATTTTACCATGATAAAAATAATTAAAAAAAAATTGATGTATGGCTGTTTATAGACGGTGTATGAATGGATTTGTACATAGATGAGTAATTGAAGAGGTGGGTGGCTTTGTTAAGGGTGAGTAAATAGGAGTGGATGAACATGCATATGAACGCATGAGTAGATGAATGGGAAGCTGTATAGATGGAATGGGAGACAATGGGTAGGGAGGTGGAGAGTTCGTGAGATTTTACCTGTGGCTCGGCCATGGATAGAAGCTGGTGACAGAGGTGACTGAGTTTTTCCTGAACCTGCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCA
|
ATATACAGTTGAATAAGTGGACAGACAGGTGGAATAATAACCTGATTAATGGATAGATATAGTGCTTAACAAATGGTAGCTATAGAGGAATGTGGATAGTTAGGTCAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCTATGCTCCAATCCCATTGACTTTATCAGATTATGATTAGATTAGGCGAAACCACATGAAATTGCTGTTTAAATGGGTCAAAGATAGTTAAATACAAGAATTTTCATATGGTTCAACCTAATAGCTGAAGGTATCCTGGGAGATGATAGATAAAAGGGATGATTAGATAAAACAATAAAAAAAGATGGCTGCTTGGATAACTAGGTGGTAGATGAAAAAGACTGTTGGATGAACCACAGTGAGGTACCACTTCACACCTACTAAGATAATAGTAATAATAATAAACCAGAATATAGCAAGTGTTTTGAGGATGTGGAGAAATTGCTGGTGTGCTGGGACATTGGTGGTTTGAGTGTAAAATGATTCGGCTGCTGTGGAAAACTGTTTGGCAGTTCCTTGAAAAGCTGATCATAGAATTGCTAATGAACAAAGAATCCTACTCCAGGTGTGTGTGTACCCCAAAGAATTGAAAACAGGGACTCAGACATTTGTGTGCTAACGTTCACTGCAACATTATTCATAATATGAAGTTAAAAGATGGGAACACCTCAAGTGTCCATCAACAGATGAATGAATGAACAAAGTGTGGTACAGGTTAAATATAACTTATCTGAAATGCTTGGAACAGAAGTGTTTCAGATTTCTGATGCTTTTTGGATTTTGGAATAATTGCATATACTTAATAAGATATCTTTGGGATAGGACCCAAATCTAAATACAAAATTTTTTTCATATATACTTTGTAAGCATAGCCTGAAGGGAATTTTATAGAATATTTAAGATAATTTTATGCATGAAACAAAGTTTAAGTACGTATGTGTGGAGTTTTCCACTTGTAGCATTATGTTGGCAATCAGAAACTTTCAGACTTTGGAGCATTTCAAATTTCAGATTTTCAGATTATGCATGTTCAACCCGTATATGCCTAGAATGGAATCTTACTCAACCATAAAAAAAATACAGATTAAAAAAACACTACTGATATATACAACAAGGATGAACCCTGAAAACATTATGGAAATCAAAATAAGCCAGACACAAAAGAACAAATATTGTATGATTCCACTTATATGAAATATCTAGAATAGACAAATTCATAGAGACAGAAAGTAGACTAGAGGTTACTGGGGCGAAGGGGAGGGAGGAATGGGGAGTTATTGCTTAATGGGTGCAGAGTTTTTGTTTGGGGGATGGAAAAGTTTTAGAAATAGTAGTGATGGTTGTACAGCATTGTGGCTGTAATTAAAGCCACTGAATTGTACACTTAACATGGTTAAAATAACAAATTTCATGTTATATGTATTTTACCATGATAAAAATAATTAAAAAAAAATTGATGTATGGCTGTTTATAGACGGTGTATGAATGGATTTGTACATAGATGAGTAATTGAAGAGGTGGGTGGCTTTGTTAAGGGTGAGTAAATAGGAGTGGATGAACATGCATATGAACGCATGAGTAGATGAATGGGAAGCTGTATAGATGGAATGGGAGACAATGGGTAGGGAGGTGGAGAGTTCGTGAGATTTTACCTGTGGCTCGGCCATGGATAGAAGCTGGTGACAGAGGTGACTGAGTTTTTCCTGAACCTGCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCANNNN
|
pathogenic
| 39,074 |
Determine whether the variant at chromosome 2, position 71679228, in gene DYSF (dysferlin) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin']
|
CAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCTATGCTCCAATCCCATTGACTTTATCAGATTATGATTAGATTAGGCGAAACCACATGAAATTGCTGTTTAAATGGGTCAAAGATAGTTAAATACAAGAATTTTCATATGGTTCAACCTAATAGCTGAAGGTATCCTGGGAGATGATAGATAAAAGGGATGATTAGATAAAACAATAAAAAAAGATGGCTGCTTGGATAACTAGGTGGTAGATGAAAAAGACTGTTGGATGAACCACAGTGAGGTACCACTTCACACCTACTAAGATAATAGTAATAATAATAAACCAGAATATAGCAAGTGTTTTGAGGATGTGGAGAAATTGCTGGTGTGCTGGGACATTGGTGGTTTGAGTGTAAAATGATTCGGCTGCTGTGGAAAACTGTTTGGCAGTTCCTTGAAAAGCTGATCATAGAATTGCTAATGAACAAAGAATCCTACTCCAGGTGTGTGTGTACCCCAAAGAATTGAAAACAGGGACTCAGACATTTGTGTGCTAACGTTCACTGCAACATTATTCATAATATGAAGTTAAAAGATGGGAACACCTCAAGTGTCCATCAACAGATGAATGAATGAACAAAGTGTGGTACAGGTTAAATATAACTTATCTGAAATGCTTGGAACAGAAGTGTTTCAGATTTCTGATGCTTTTTGGATTTTGGAATAATTGCATATACTTAATAAGATATCTTTGGGATAGGACCCAAATCTAAATACAAAATTTTTTTCATATATACTTTGTAAGCATAGCCTGAAGGGAATTTTATAGAATATTTAAGATAATTTTATGCATGAAACAAAGTTTAAGTACGTATGTGTGGAGTTTTCCACTTGTAGCATTATGTTGGCAATCAGAAACTTTCAGACTTTGGAGCATTTCAAATTTCAGATTTTCAGATTATGCATGTTCAACCCGTATATGCCTAGAATGGAATCTTACTCAACCATAAAAAAAATACAGATTAAAAAAACACTACTGATATATACAACAAGGATGAACCCTGAAAACATTATGGAAATCAAAATAAGCCAGACACAAAAGAACAAATATTGTATGATTCCACTTATATGAAATATCTAGAATAGACAAATTCATAGAGACAGAAAGTAGACTAGAGGTTACTGGGGCGAAGGGGAGGGAGGAATGGGGAGTTATTGCTTAATGGGTGCAGAGTTTTTGTTTGGGGGATGGAAAAGTTTTAGAAATAGTAGTGATGGTTGTACAGCATTGTGGCTGTAATTAAAGCCACTGAATTGTACACTTAACATGGTTAAAATAACAAATTTCATGTTATATGTATTTTACCATGATAAAAATAATTAAAAAAAAATTGATGTATGGCTGTTTATAGACGGTGTATGAATGGATTTGTACATAGATGAGTAATTGAAGAGGTGGGTGGCTTTGTTAAGGGTGAGTAAATAGGAGTGGATGAACATGCATATGAACGCATGAGTAGATGAATGGGAAGCTGTATAGATGGAATGGGAGACAATGGGTAGGGAGGTGGAGAGTTCGTGAGATTTTACCTGTGGCTCGGCCATGGATAGAAGCTGGTGACAGAGGTGACTGAGTTTTTCCTGAACCTGCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATG
|
CAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCTATGCTCCAATCCCATTGACTTTATCAGATTATGATTAGATTAGGCGAAACCACATGAAATTGCTGTTTAAATGGGTCAAAGATAGTTAAATACAAGAATTTTCATATGGTTCAACCTAATAGCTGAAGGTATCCTGGGAGATGATAGATAAAAGGGATGATTAGATAAAACAATAAAAAAAGATGGCTGCTTGGATAACTAGGTGGTAGATGAAAAAGACTGTTGGATGAACCACAGTGAGGTACCACTTCACACCTACTAAGATAATAGTAATAATAATAAACCAGAATATAGCAAGTGTTTTGAGGATGTGGAGAAATTGCTGGTGTGCTGGGACATTGGTGGTTTGAGTGTAAAATGATTCGGCTGCTGTGGAAAACTGTTTGGCAGTTCCTTGAAAAGCTGATCATAGAATTGCTAATGAACAAAGAATCCTACTCCAGGTGTGTGTGTACCCCAAAGAATTGAAAACAGGGACTCAGACATTTGTGTGCTAACGTTCACTGCAACATTATTCATAATATGAAGTTAAAAGATGGGAACACCTCAAGTGTCCATCAACAGATGAATGAATGAACAAAGTGTGGTACAGGTTAAATATAACTTATCTGAAATGCTTGGAACAGAAGTGTTTCAGATTTCTGATGCTTTTTGGATTTTGGAATAATTGCATATACTTAATAAGATATCTTTGGGATAGGACCCAAATCTAAATACAAAATTTTTTTCATATATACTTTGTAAGCATAGCCTGAAGGGAATTTTATAGAATATTTAAGATAATTTTATGCATGAAACAAAGTTTAAGTACGTATGTGTGGAGTTTTCCACTTGTAGCATTATGTTGGCAATCAGAAACTTTCAGACTTTGGAGCATTTCAAATTTCAGATTTTCAGATTATGCATGTTCAACCCGTATATGCCTAGAATGGAATCTTACTCAACCATAAAAAAAATACAGATTAAAAAAACACTACTGATATATACAACAAGGATGAACCCTGAAAACATTATGGAAATCAAAATAAGCCAGACACAAAAGAACAAATATTGTATGATTCCACTTATATGAAATATCTAGAATAGACAAATTCATAGAGACAGAAAGTAGACTAGAGGTTACTGGGGCGAAGGGGAGGGAGGAATGGGGAGTTATTGCTTAATGGGTGCAGAGTTTTTGTTTGGGGGATGGAAAAGTTTTAGAAATAGTAGTGATGGTTGTACAGCATTGTGGCTGTAATTAAAGCCACTGAATTGTACACTTAACATGGTTAAAATAACAAATTTCATGTTATATGTATTTTACCATGATAAAAATAATTAAAAAAAAATTGATGTATGGCTGTTTATAGACGGTGTATGAATGGATTTGTACATAGATGAGTAATTGAAGAGGTGGGTGGCTTTGTTAAGGGTGAGTAAATAGGAGTGGATGAACATGCATATGAACGCATGAGTAGATGAATGGGAAGCTGTATAGATGGAATGGGAGACAATGGGTAGGGAGGTGGAGAGTTCGTGAGATTTTACCTGTGGCTCGGCCATGGATAGAAGCTGGTGACAGAGGTGACTGAGTTTTTCCTGAACCTGCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATAACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGAT
|
pathogenic
| 39,080 |
Is the genetic change at chromosome 2, position 71681032, within gene DYSF (dysferlin) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin']
|
GCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGAAGGTC
|
GCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGAAGGT
|
pathogenic
| 39,083 |
Does the variant on chromosome 2 at location 71681035 affecting gene DYSF (dysferlin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin']
|
CTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGAAGGTCCCT
|
CTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGA
|
pathogenic
| 39,084 |
A genetic variant on chromosome 2, position 71681101, affects the gene DYSF (dysferlin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dysferlin']
|
GCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGAAGGTCCCTTTGTCTTAACAGCAGTTGCAAATCCAGAGGAAGGGAGGAGCTGGGGCTGGGAGAGCATCTCAGGGT
|
GCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGAAGGTCCCTTTGTCTTAACAGCAGTTGCAAATCCAGAGGAAGGGAGGAGCTGGGGCTGGGAGAGCATCTCAGGGTN
|
pathogenic
| 39,086 |
Gene mutation in DYSF (dysferlin) at chromosome 2, position 71686463—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic
|
GTTCAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGGAATCTGCATGTAGGCACATGATGGTTGGAGAAACCCTGTTGGATGTGACAGAGCTCTGTCGCTGGAGTCAGGATTATGGACTCTTCCTGTGACCTTGGCAAATCCCTCCTGCTCACATGAGGAAGGGGCTGCACTAGGTTAGCTCTGGCCTTCTGTGGCTGGGACTGTGCTTAGGGGAGCACTGTCATCTTCCCTGGCTGCTGTATATTAAGCCAAGCCTCCTTCTGAAAAGCCAAGGGGAGGGGAAAGGCAGGTCCAAAGTGGCATCACCACCACCCATGACATGCCTAAGCCCAGCCCCTGCCAGCTGCACCCTGCACTGCTAGGCTACTGGGCAGCAGATCTAGGCCTCCAGGGGCCTGGGGAAGGAGGCCCTGCTGCCTGGCTGGGAGAGGAAGGAAAGATTTCCAGTCACTTCCAGCCTGTGGTCCTTCCTCATCGCTGTGGGCAGAAGCAGAGTGGTACTGTGGGGGGCCTGGTCAGAGCTCCTCCCTGTCTCCTGTCCCCCCAGCAGCGGGCCACTCTCCTTTGAGTTCTTCTGGAAGTTGTCCTCTTTAAAATATGGACCCTGCTTCCCCTCTCCCAGGGCTGGTGTGGGGATGTCAGATCCTAGGTAAGGGGTCTAGGGATGAAGGGGGTGGCCTGGGCCTGAGGCTGCAGACTGGCTTTGCTCACAGGTCTTTGCTACAAGCTGAGCACATCCTGCCTCCTTCCACCCAAGTCACTCATTCATTTGGCCAGTACCAGATGATGAGGGCCGGGCCCTGGTGACCCTCACCTGGCTTTCAGGCCATGGGACAGAGGCTGCCTGCCCCAAGCCAGGGCCTAGTGGAGAGGGGCCCAAGGACAGGGCAGCTTCCTCCAGTTGGCCTAATCCCCTACCCTCTTGGAAATTCCCTTGGGAGGGGTATGAGGGGGCAGCCTGTCTGATTCCTCTCAGCTTCCCCCTCAGAGCCAGCCGGGAGCAGGGCCAGCGTGGGGAGGCAGGAGGCGTTTGGCGGGGAAGGAGGGCCGGCTCTGTTTCCAGAGTTGGCTTTCCCCAGCCGGCGCTGGGGAACATACTGTCCCAATTAGGAGCCCTGTATTGTGTTGTATGTGTTTTCATGGTTTTTGGGGGGAGAAGTGGGGAGGGGAGGATACTGTCAATCCTGCAGCAGGCAGGGCTCAATCAAGGGTGCCCTGTCTCTAGTGCTGGGCTGTGCCGTGGGTCATCCACGACAGCCCATCCCCAACTCTCTCTCTGCTTTCTGGACAGGGGTGTGATGACCCGTAAGCCCTGGGCTGCCATGTGGGGGAGGACCCTGGGCCCCACCTTCAGCACCTGTCTGATGGAAGAGGCCAGGTCCAGGGTGCTCAGAGTCCTCTGGGCAGTCAGCTGGAACCTGGAAATGGGCCTGGCTTGATGGGGGAGAAGACAGAGCAATTTGGGCAGCTTTGGCCCCCAGGTGGGAGGGTGCGGGTGGAGTTTCGGAGGGTATGGGTTTGCCTGATGGGCTGGAGCACTAGGCAGGGCGGAGTGTTGAGCCCCACATGGTATGGATGGCAAGTGGTGAGGGCGAGGCGTGGGCAGGTGGTTGAAGAGCCACGAGCGTCCTCTCCCAGCCTCTTGCCTGTTGGCAGCTTAGCCCCATCCTCTGAGCCCCAGGTCTGGGACAGCTGCTCTGGCTGTGCCTGCCCCAGTGGGATCACCATGGGTCCCTGTCTCCTCCCTCCCTCCAGAACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGCTGAGGACTCTCCTGCCCTGTAGAAGGGGCCGTGGGGTCCCCTCCAGCATGGGACTGGCCTGCCTCCTCCGCCCAGCTCGGCGAGCTCCTCCAGACCTCCTAGGCCTGATTGTCCTGCCAGGGTGGGCAGACAGACAGATGGACCGGCCCACACTCCCAGAGTTGCTAACATGGAGCTCTGAGATCACCCCACTTCCATCATTTCCTTCTCCCCCAACCCAACGCTTTTTTGGATCAGCTCAGACATATTTCAGTATAAAACAGTTGGAACCACACAGCAGTGTCAGTGTGTGTATCTCTACAGTACCTGAACAGGGAGTGACTGTGAAGGGGGATATGCCTGGGTGGGCGGGGAGGGTGGACGGGGTATGGGTGCTGCTTCCAGCCCAGCCTTCTGGAGGGAGAGGCAGCTGAGAAGCAGTGGGTGGGGCCCGTGGAACTGCTTCTTCTTTCACAAGACTGGTTGGGGGTGGGGTGGGCTTGGGGCTTGGTGTCTGGTTTGCCTTAGCCCCGGCCTCCTCTGCCTCCTCTCCAATCCAGGACTTTCCCCTTTCCCCCTGCCTTCTCCTTACTCGGGCACCCCCCCCGTCTCCCAGGCTGCCCTTTGCCTAGGAGGGCAGCTACCTGTATCTTCTGGTTTCTTTGACCATGCTAGGGAAGAGGTTCCATTTTATAGAAAGGGAACTCCAGTGGGGAGGGTTCGGCCAGAAATCCCCTAGGCAGGGAGGCCACTGTACCTCTGGCTTTGGCCTATTCCCATAGAATCCTGGGATTTCTTGCGATTCTCTCTCTCTGCTTCCTCTCTCTGCTTTAAGAATCCGATCTGGACAAAGACACCTTTTTCTTGTGGTCTAAAGCTTAGTTGTAGCCATTGGTTTGACATTTCCTGCAGGAATCAGGCTTAATCTACAGAAGCAGCAGGAACATACTTGGAGAGAAAGCCAAGCGCTTGAAAACATCACGTTTCCAAGAGTCTCCTGCATCTCTCGCCTGAGGGGCTGAACTCTGTGAGCACAGAGCTGGCAGCCTCCACTCCCGTTACCCAGCGGGTGTCCCCGGTTTTCCACGGTGACCCTGCATCCTGGCCCAGTCCTCCTTGGCTCTTCACTGATTGGCAGGACTGGGGGTGGTTGGGACAGGGTTGATGTCTGGAACCTGCCTGGGTGAGGGAGCTACACCTTGAAAGCAGGGTGCTTCTTACTTCAGGAGAGCTTCAGGCTAGAGGTGGCTATGAGTCCTGAGACCCTGACACCTGAACCCTAGAGCCAGGGGCCACGCCGCACGTAGGACACAGCAGGGACTGGGGTCAGAGCTTTTCTGGGAAGGTCAGTCTGGTGCTGAGCCTTCACTGAGCACACTAAGCATGCCTGTGGGGAGGCAGTGAGAGGAGGCTGGCCTTTAGGGAGGGCTAGAGGGAGAGGAAGGAAGGGGTGGGGCCACCACTTCAGGAGGCCCCGAGCGAGATTTTTAGGAGAGGGAAAACCTGAGAATATTTGAAGGGAGGAAGGAGGAAGCCACTTGTTAGGGAAAGATCAAAGACACAAGAAAGAGTATGAGGTAATTCATGGAATCAGTTTCTGGAGAAGGAGAGGAGGGGGTTTGCTTTGGAAAGAAGGTCTGTTTTGTCTTCCAGGGCGGAAAGGCAAGAGGAAATGAATGAATACCATGCAACTATCAGCTGGATTAAAAGAGCTTTAGGGGTCATTGTGCTCATTTTTTCATTTCTTCCTTCACTTTATTCTTGATTCTCTGGGTTGCAGGTAATGGAAAACCCCACTCAAGCTACGAAAGGGAATTCAATGGCTTTACAGAAATGAAACACCCAGATGATTGGTTTCAGGTAAAGGCTGATCCAGCTCCTCAATGTGAGATCATTGAGAGTTTGTGTTCTCAAGGTTGGCTTCAGTTTAAAGCTGGCTCCATTCATCGTGCTGGGCTTGAAGCTGCTCTCTGAGACCACATAGACCACTAAGAAAAACTCAGAGGGGGATGAGGAATGGATGGCAAGGGGACACCATCCCC
|
GTTCAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGGAATCTGCATGTAGGCACATGATGGTTGGAGAAACCCTGTTGGATGTGACAGAGCTCTGTCGCTGGAGTCAGGATTATGGACTCTTCCTGTGACCTTGGCAAATCCCTCCTGCTCACATGAGGAAGGGGCTGCACTAGGTTAGCTCTGGCCTTCTGTGGCTGGGACTGTGCTTAGGGGAGCACTGTCATCTTCCCTGGCTGCTGTATATTAAGCCAAGCCTCCTTCTGAAAAGCCAAGGGGAGGGGAAAGGCAGGTCCAAAGTGGCATCACCACCACCCATGACATGCCTAAGCCCAGCCCCTGCCAGCTGCACCCTGCACTGCTAGGCTACTGGGCAGCAGATCTAGGCCTCCAGGGGCCTGGGGAAGGAGGCCCTGCTGCCTGGCTGGGAGAGGAAGGAAAGATTTCCAGTCACTTCCAGCCTGTGGTCCTTCCTCATCGCTGTGGGCAGAAGCAGAGTGGTACTGTGGGGGGCCTGGTCAGAGCTCCTCCCTGTCTCCTGTCCCCCCAGCAGCGGGCCACTCTCCTTTGAGTTCTTCTGGAAGTTGTCCTCTTTAAAATATGGACCCTGCTTCCCCTCTCCCAGGGCTGGTGTGGGGATGTCAGATCCTAGGTAAGGGGTCTAGGGATGAAGGGGGTGGCCTGGGCCTGAGGCTGCAGACTGGCTTTGCTCACAGGTCTTTGCTACAAGCTGAGCACATCCTGCCTCCTTCCACCCAAGTCACTCATTCATTTGGCCAGTACCAGATGATGAGGGCCGGGCCCTGGTGACCCTCACCTGGCTTTCAGGCCATGGGACAGAGGCTGCCTGCCCCAAGCCAGGGCCTAGTGGAGAGGGGCCCAAGGACAGGGCAGCTTCCTCCAGTTGGCCTAATCCCCTACCCTCTTGGAAATTCCCTTGGGAGGGGTATGAGGGGGCAGCCTGTCTGATTCCTCTCAGCTTCCCCCTCAGAGCCAGCCGGGAGCAGGGCCAGCGTGGGGAGGCAGGAGGCGTTTGGCGGGGAAGGAGGGCCGGCTCTGTTTCCAGAGTTGGCTTTCCCCAGCCGGCGCTGGGGAACATACTGTCCCAATTAGGAGCCCTGTATTGTGTTGTATGTGTTTTCATGGTTTTTGGGGGGAGAAGTGGGGAGGGGAGGATACTGTCAATCCTGCAGCAGGCAGGGCTCAATCAAGGGTGCCCTGTCTCTAGTGCTGGGCTGTGCCGTGGGTCATCCACGACAGCCCATCCCCAACTCTCTCTCTGCTTTCTGGACAGGGGTGTGATGACCCGTAAGCCCTGGGCTGCCATGTGGGGGAGGACCCTGGGCCCCACCTTCAGCACCTGTCTGATGGAAGAGGCCAGGTCCAGGGTGCTCAGAGTCCTCTGGGCAGTCAGCTGGAACCTGGAAATGGGCCTGGCTTGATGGGGGAGAAGACAGAGCAATTTGGGCAGCTTTGGCCCCCAGGTGGGAGGGTGCGGGTGGAGTTTCGGAGGGTATGGGTTTGCCTGATGGGCTGGAGCACTAGGCAGGGCGGAGTGTTGAGCCCCACATGGTATGGATGGCAAGTGGTGAGGGCGAGGCGTGGGCAGGTGGTTGAAGAGCCACGAGCGTCCTCTCCCAGCCTCTTGCCTGTTGGCAGCTTAGCCCCATCCTCTGAGCCCCAGGTCTGGGACAGCTGCTCTGGCTGTGCCTGCCCCAGTGGGATCACCATGGGTCCCTGTCTCCTCCCTCCCTCCAGAACTATGCTGCATGAAGCTGGTGAAGCCCTTCAGCTGAGGACTCTCCTGCCCTGTAGAAGGGGCCGTGGGGTCCCCTCCAGCATGGGACTGGCCTGCCTCCTCCGCCCAGCTCGGCGAGCTCCTCCAGACCTCCTAGGCCTGATTGTCCTGCCAGGGTGGGCAGACAGACAGATGGACCGGCCCACACTCCCAGAGTTGCTAACATGGAGCTCTGAGATCACCCCACTTCCATCATTTCCTTCTCCCCCAACCCAACGCTTTTTTGGATCAGCTCAGACATATTTCAGTATAAAACAGTTGGAACCACACAGCAGTGTCAGTGTGTGTATCTCTACAGTACCTGAACAGGGAGTGACTGTGAAGGGGGATATGCCTGGGTGGGCGGGGAGGGTGGACGGGGTATGGGTGCTGCTTCCAGCCCAGCCTTCTGGAGGGAGAGGCAGCTGAGAAGCAGTGGGTGGGGCCCGTGGAACTGCTTCTTCTTTCACAAGACTGGTTGGGGGTGGGGTGGGCTTGGGGCTTGGTGTCTGGTTTGCCTTAGCCCCGGCCTCCTCTGCCTCCTCTCCAATCCAGGACTTTCCCCTTTCCCCCTGCCTTCTCCTTACTCGGGCACCCCCCCCGTCTCCCAGGCTGCCCTTTGCCTAGGAGGGCAGCTACCTGTATCTTCTGGTTTCTTTGACCATGCTAGGGAAGAGGTTCCATTTTATAGAAAGGGAACTCCAGTGGGGAGGGTTCGGCCAGAAATCCCCTAGGCAGGGAGGCCACTGTACCTCTGGCTTTGGCCTATTCCCATAGAATCCTGGGATTTCTTGCGATTCTCTCTCTCTGCTTCCTCTCTCTGCTTTAAGAATCCGATCTGGACAAAGACACCTTTTTCTTGTGGTCTAAAGCTTAGTTGTAGCCATTGGTTTGACATTTCCTGCAGGAATCAGGCTTAATCTACAGAAGCAGCAGGAACATACTTGGAGAGAAAGCCAAGCGCTTGAAAACATCACGTTTCCAAGAGTCTCCTGCATCTCTCGCCTGAGGGGCTGAACTCTGTGAGCACAGAGCTGGCAGCCTCCACTCCCGTTACCCAGCGGGTGTCCCCGGTTTTCCACGGTGACCCTGCATCCTGGCCCAGTCCTCCTTGGCTCTTCACTGATTGGCAGGACTGGGGGTGGTTGGGACAGGGTTGATGTCTGGAACCTGCCTGGGTGAGGGAGCTACACCTTGAAAGCAGGGTGCTTCTTACTTCAGGAGAGCTTCAGGCTAGAGGTGGCTATGAGTCCTGAGACCCTGACACCTGAACCCTAGAGCCAGGGGCCACGCCGCACGTAGGACACAGCAGGGACTGGGGTCAGAGCTTTTCTGGGAAGGTCAGTCTGGTGCTGAGCCTTCACTGAGCACACTAAGCATGCCTGTGGGGAGGCAGTGAGAGGAGGCTGGCCTTTAGGGAGGGCTAGAGGGAGAGGAAGGAAGGGGTGGGGCCACCACTTCAGGAGGCCCCGAGCGAGATTTTTAGGAGAGGGAAAACCTGAGAATATTTGAAGGGAGGAAGGAGGAAGCCACTTGTTAGGGAAAGATCAAAGACACAAGAAAGAGTATGAGGTAATTCATGGAATCAGTTTCTGGAGAAGGAGAGGAGGGGGTTTGCTTTGGAAAGAAGGTCTGTTTTGTCTTCCAGGGCGGAAAGGCAAGAGGAAATGAATGAATACCATGCAACTATCAGCTGGATTAAAAGAGCTTTAGGGGTCATTGTGCTCATTTTTTCATTTCTTCCTTCACTTTATTCTTGATTCTCTGGGTTGCAGGTAATGGAAAACCCCACTCAAGCTACGAAAGGGAATTCAATGGCTTTACAGAAATGAAACACCCAGATGATTGGTTTCAGGTAAAGGCTGATCCAGCTCCTCAATGTGAGATCATTGAGAGTTTGTGTTCTCAAGGTTGGCTTCAGTTTAAAGCTGGCTCCATTCATCGTGCTGGGCTTGAAGCTGCTCTCTGAGACCACATAGACCACTAAGAAAAACTCAGAGGGGGATGAGGAATGGATGGCAAGGGGACACCATCCCCN
|
pathogenic
| 39,094 |
Evaluate the clinical significance of the mutation at chromosome 2, position 72891411 in gene SPR (sepiapterin reductase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Dopa-responsive_dystonia_due_to_sepiapterin_reductase_deficiency']
|
CAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCTAGGCTCAGGCAATTCTAGTGCCTCAGCCTCCACAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGGTTGCAGGTGTGAGCCACTGCAGCTGGGCCCCAGTGATGTTTTAGTAGAATGAGTTTAGTAGAGGGCTACAGAAGGAGCTGAGGCAGGGAGAGAAGCAAGGTTGTAAAAAGGGCCTGATTGTCGGGATGTGTAGATGCTGAAGGGTCCTACCTGGTGCCTGGTTGGCTCTGGGGACGATGGGGGAGGGAAGGAGGAAGTGATGGACGTTTTGAGTCTGGGAAAAGAATACTTCATTAATAGAAATGGGAATGTCAGGAGGTGGTGCTGGTTGGACAGGAGATGAGAATCTTGGTTTTAGACATGGTAGTCTAGAGGGTCCATGTTCAGTGGGCTTTTGAATTTCAGTCCAGAACTTGATGGTGACAAATTGGAGCCTTTGGCAACCCTGACCACACATTTCAGCCAAGATGACGTGTTTCCTCTGGCCAGACCTGACTCAGCCCCACCCCCGACATAAAACAGGGACCTGAAACCTTCTGTCCCTGCCTTGGCCATGTTCCCTCATCGTCTCCTTTTCATCCTCTAGGTCCTCTGGACACAGACATGCAGCAGTTGGCCCGGGAGACCTCCGTGGACCCAGACATGCGAAAAGGGCTGCAGGAGCTGAAGGCAAAGGGGAAGCTGGTGGATTGCAAGGTGTCAGCCCAGAAACTGCTGAGCTTACTGGAAAAGGACGAGTTCAAGTCTGGAGCCCACGTGGACTTCTATGACAAATAAGCCCATGTTTTTGGCTTCCTGAACCTTTTTGCCCCCACTTTTAGACATACCCCAGAGCCCTGTGGCTCCCCACACCCTGCCATAGGGGCAGTCCTGCCTTACACATAGAAGCATTCATGCCTGCTGCCCTGCCCTCAGGCACAGCCAGCTGTGAGCTCCCAGGTCATTGGCCTTACCAGTTGTCAGGAGTCTGTGCTGTGCACCCTGGGTTATAAGGAGGCTTAGGAGAGAGGTTATGGGTATTGGTGTCTCTATCCCCAGGAATAGAACTTAAGGGGTGGGAAGAACAGGAAAAGAAGCTGGAACACAGAAGAGAGGAGGTTGTGTCTCTTGCTCATAGCAAGCCTGTGGGTAGAGGAAAGAGTGATCTGGTGTCGAATAGGAGGACCCATGTAGATTCGCAGATGGCCTGGATGGGAGGAAGGGCAGACGGTACATGTCCCAGCCCACATAGATGCCCCTTGCTGAGGGTAGCAGGACCTTCTGTTGAACTTTGTGTCCTCACTCTGATGTCTCCTTCCTTCAGAATCTACCACCCCTCCCCCAGGCTGGGAGAAGGGGCTCCTGGGTGTCTGTATACACGCCAAAGGCAGATACAAATAAAATACAGATTGTCCTTTCTTCATGCTTGCTTTCTCCTCTGATACAGGGCCTATGACTGACTGCCTGGTTCACTGGGCCCAAGGCCATTCCCAAGGCAGTTAACCCAAAAGTGAGGTGTTGTCCTTATTTCCTAGGGAGCTTTCCGGGGGCCATCTGCCTCCAGTCATCAGGCCCCACTCAGTGGCAAGCCCAGGTGCAAAGTTGCCCACAATCGGCATGCCTGCTTTTTTGTGCTGTTGCCCACGCTGACCCCAGCCTTGATAGCCCTTTTCTCACCCTGGGCTATTCAGAATACCCATCTTTTAGGGCCCAGCTTACAGCCTGCCCTCCACATGGCCCTAAAGCCTGGGTCCTTTCCCCAACTCTGTGGATTGCCAATTCCACCCCCTGTCCACGTGGCAATGCTGTGAATGGATGCCAGCTGCTATTGGCCCTTTTGGCATTGTCCATCTGGCCCATGGTCCAGGTCGTCAGTGGGGTGGGCTTAGGACCAGCATGCCTTTGGGGGAGATGGGCAAGATTCCAAGAAAGGGAAGCTCTGAGAAATCAGGGCTGCAACCAAGCCAATCCTTGTGCAGGTTGGTAGACATAGGCTGGGCTGCGAGCTCCACGGCAGTGGTGGTCTGCAGCCAGCACCCTGGCCCCTGGCCATATTTGGGAGAAGGAAGCGTGGTCCCCTGCCCGCTGACTCCAGGACTCAGCCTGCCTCTGAGTGTGCAGAAGGGAACTCCTCCTTGTGCTCAGCAGAGGGCGCATGGAGGCCGCGCCTTTTGCTGAAGGGCAGGCCCTAGGCTGAAGCTGGCAGTGCCCTGCCTGCTCCCCTAGGAGGGAATGGGCGAACTTTTACCTGGTCCAGCAGATGCCTTGCCCTCATGCCCCCATCGAAGTAGAAATCACTGGGCTCAGGTTCCTGCTCTGCCACAGCTGGTAACCCAGGGCAAGTTTCTTCTCTGTGCCTCAGTTTCCTTATCTGAAAAATGTGGATTATAATGGCACCTACCCTGAAGGGTTATTTTGAACATTAAGTGACCTAATGTTTGTAAATGTTCAGCACAGTGCTAGCATTGTGGTAAATGCCCTGTAGATGCTAATATTATTTATTGCCTTTAAATATCAAGATCCAGCTCATCCTGGAACTCTGCTGGAAGCCTCCTCTCCTCTAGACAGTTCAGACATCCTCCCCTGCCTGACTTGAGGCAAAAACTCTCACTGTACTGCCCCTATTCAGCCTCCTGGAGGTGAGGGTGGGGTCTGGTCTGGATACCTTGTCTTGGATTTACAGGAAAATGTGTGAACTTTGGAGTCAGGAACCTTCAGT
|
CAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCTAGGCTCAGGCAATTCTAGTGCCTCAGCCTCCACAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGGTTGCAGGTGTGAGCCACTGCAGCTGGGCCCCAGTGATGTTTTAGTAGAATGAGTTTAGTAGAGGGCTACAGAAGGAGCTGAGGCAGGGAGAGAAGCAAGGTTGTAAAAAGGGCCTGATTGTCGGGATGTGTAGATGCTGAAGGGTCCTACCTGGTGCCTGGTTGGCTCTGGGGACGATGGGGGAGGGAAGGAGGAAGTGATGGACGTTTTGAGTCTGGGAAAAGAATACTTCATTAATAGAAATGGGAATGTCAGGAGGTGGTGCTGGTTGGACAGGAGATGAGAATCTTGGTTTTAGACATGGTAGTCTAGAGGGTCCATGTTCAGTGGGCTTTTGAATTTCAGTCCAGAACTTGATGGTGACAAATTGGAGCCTTTGGCAACCCTGACCACACATTTCAGCCAAGATGACGTGTTTCCTCTGGCCAGACCTGACTCAGCCCCACCCCCGACATAAAACAGGGACCTGAAACCTTCTGTCCCTGCCTTGGCCATGTTCCCTCATCGTCTCCTTTTCATCCTCTAGGTCCTCTGGACACAGACATGCAGCAGTTGGCCCGGGAGACCTCCGTGGACCCAGACATGCGAAAAGGCTGCAGGAGCTGAAGGCAAAGGGGAAGCTGGTGGATTGCAAGGTGTCAGCCCAGAAACTGCTGAGCTTACTGGAAAAGGACGAGTTCAAGTCTGGAGCCCACGTGGACTTCTATGACAAATAAGCCCATGTTTTTGGCTTCCTGAACCTTTTTGCCCCCACTTTTAGACATACCCCAGAGCCCTGTGGCTCCCCACACCCTGCCATAGGGGCAGTCCTGCCTTACACATAGAAGCATTCATGCCTGCTGCCCTGCCCTCAGGCACAGCCAGCTGTGAGCTCCCAGGTCATTGGCCTTACCAGTTGTCAGGAGTCTGTGCTGTGCACCCTGGGTTATAAGGAGGCTTAGGAGAGAGGTTATGGGTATTGGTGTCTCTATCCCCAGGAATAGAACTTAAGGGGTGGGAAGAACAGGAAAAGAAGCTGGAACACAGAAGAGAGGAGGTTGTGTCTCTTGCTCATAGCAAGCCTGTGGGTAGAGGAAAGAGTGATCTGGTGTCGAATAGGAGGACCCATGTAGATTCGCAGATGGCCTGGATGGGAGGAAGGGCAGACGGTACATGTCCCAGCCCACATAGATGCCCCTTGCTGAGGGTAGCAGGACCTTCTGTTGAACTTTGTGTCCTCACTCTGATGTCTCCTTCCTTCAGAATCTACCACCCCTCCCCCAGGCTGGGAGAAGGGGCTCCTGGGTGTCTGTATACACGCCAAAGGCAGATACAAATAAAATACAGATTGTCCTTTCTTCATGCTTGCTTTCTCCTCTGATACAGGGCCTATGACTGACTGCCTGGTTCACTGGGCCCAAGGCCATTCCCAAGGCAGTTAACCCAAAAGTGAGGTGTTGTCCTTATTTCCTAGGGAGCTTTCCGGGGGCCATCTGCCTCCAGTCATCAGGCCCCACTCAGTGGCAAGCCCAGGTGCAAAGTTGCCCACAATCGGCATGCCTGCTTTTTTGTGCTGTTGCCCACGCTGACCCCAGCCTTGATAGCCCTTTTCTCACCCTGGGCTATTCAGAATACCCATCTTTTAGGGCCCAGCTTACAGCCTGCCCTCCACATGGCCCTAAAGCCTGGGTCCTTTCCCCAACTCTGTGGATTGCCAATTCCACCCCCTGTCCACGTGGCAATGCTGTGAATGGATGCCAGCTGCTATTGGCCCTTTTGGCATTGTCCATCTGGCCCATGGTCCAGGTCGTCAGTGGGGTGGGCTTAGGACCAGCATGCCTTTGGGGGAGATGGGCAAGATTCCAAGAAAGGGAAGCTCTGAGAAATCAGGGCTGCAACCAAGCCAATCCTTGTGCAGGTTGGTAGACATAGGCTGGGCTGCGAGCTCCACGGCAGTGGTGGTCTGCAGCCAGCACCCTGGCCCCTGGCCATATTTGGGAGAAGGAAGCGTGGTCCCCTGCCCGCTGACTCCAGGACTCAGCCTGCCTCTGAGTGTGCAGAAGGGAACTCCTCCTTGTGCTCAGCAGAGGGCGCATGGAGGCCGCGCCTTTTGCTGAAGGGCAGGCCCTAGGCTGAAGCTGGCAGTGCCCTGCCTGCTCCCCTAGGAGGGAATGGGCGAACTTTTACCTGGTCCAGCAGATGCCTTGCCCTCATGCCCCCATCGAAGTAGAAATCACTGGGCTCAGGTTCCTGCTCTGCCACAGCTGGTAACCCAGGGCAAGTTTCTTCTCTGTGCCTCAGTTTCCTTATCTGAAAAATGTGGATTATAATGGCACCTACCCTGAAGGGTTATTTTGAACATTAAGTGACCTAATGTTTGTAAATGTTCAGCACAGTGCTAGCATTGTGGTAAATGCCCTGTAGATGCTAATATTATTTATTGCCTTTAAATATCAAGATCCAGCTCATCCTGGAACTCTGCTGGAAGCCTCCTCTCCTCTAGACAGTTCAGACATCCTCCCCTGCCTGACTTGAGGCAAAAACTCTCACTGTACTGCCCCTATTCAGCCTCCTGGAGGTGAGGGTGGGGTCTGGTCTGGATACCTTGTCTTGGATTTACAGGAAAATGTGTGAACTTTGGAGTCAGGAACCTTCAGTN
|
pathogenic
| 39,137 |
Variant at chromosome position 73385886, chromosome 2, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Alstrom_syndrome']
|
GTCTTTTTAGTTGTGTAATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAAC
|
GTCTTTTTAGTTGTGTAATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACN
|
pathogenic
| 39,150 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein). What disease(s) is it linked to if pathogenic?
|
benign
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAA
|
benign
| 39,156 |
A genetic alteration at chromosome 2, position 73385903, in gene ALMS1 (ALMS1 centrosome and basal body associated protein)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGG
|
benign
| 39,157 |
Variant at chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAA
|
benign
| 39,158 |
Mutation at chromosome 2, position 73385903, within ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAA
|
benign
| 39,159 |
For chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGNNN
|
benign
| 39,160 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73385903 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGNNNNNN
|
benign
| 39,161 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73385903 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGNNNNNNNNN
|
benign
| 39,162 |
Clinical significance of chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG
|
ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGNNNNNNNNNNNN
|
benign
| 39,163 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73386016 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
TTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGTGAAGTAGCCAGGTGTTAGGTTATTGTTTGAATGGTTGTGCCAATATTAAGATATGGCCAGATTTATGGTGGAGGTGGTGGCTGTGAGTGGGTGGTGGAATTGGTTGGGTGAG
|
TTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGTGAAGTAGCCAGGTGTTAGGTTATTGTTTGAATGGTTGTGCCAATATTAAGATATGGCCAGATTTATGGTGGAGGTGGTGGCTGTGAGTGGGTGGTGGAATTGGTTGGGTGAGN
|
pathogenic
| 39,178 |
Chromosome 2, position 73386144, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Alstrom_syndrome']
|
TTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGTGAAGTAGCCAGGTGTTAGGTTATTGTTTGAATGGTTGTGCCAATATTAAGATATGGCCAGATTTATGGTGGAGGTGGTGGCTGTGAGTGGGTGGTGGAATTGGTTGGGTGAGTCTTAAGATTATGAGTTTGGTTTTGAAGATTGAAGGAGAAGGCTGGGCTAGAGATTTCAAGTTGTAAGTCATTTACATAGAGACCATAATTAAAGCCACACTTGTTGACTAGGTCTTCTAACTTTTAT
|
TTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGTGAAGTAGCCAGGTGTTAGGTTATTGTTTGAATGGTTGTGCCAATATTAAGATATGGCCAGATTTATGGTGGAGGTGGTGGCTGTGAGTGGGTGGTGGAATTGGTTGGGTGAGTCTTAAGATTATGAGTTTGGTTTTGAAGATTGAAGGAGAAGGCTGGGCTAGAGATTTCAAGTTGTAAGTCATTTACATAGAGACCATAATTAAAGCCACACTTGTTGACTAGGTCTTCTAACTTTTA
|
pathogenic
| 39,186 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 73408654, gene ALMS1 (ALMS1 centrosome and basal body associated protein). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Alstrom_syndrome']
|
ATCATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGATAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTAACTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACACT
|
ATCATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTAACTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACACTNN
|
pathogenic
| 39,202 |
A mutation at chromosome position 73408656 on chromosome 2 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Alstrom_syndrome']
|
CATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGATAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTAACTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACACTTT
|
CATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGATAGTAAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTAACTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACA
|
pathogenic
| 39,203 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73408766—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
CGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGATAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTAACTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACACTTTGAGAACCACTTTTCTAGAACATAGTTATAAACTTTGAAGAAATGAAACGATCATGAGCAGATAGGAAAAAAGCTCATGTAGAGTTATTGGAGGAAAAATGTTATTAGTGT
|
CGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGATAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACACTTTGAGAACCACTTTTCTAGAACATAGTTATAAACTTTGAAGAAATGAAACGATCATGAGCAGATAGGAAAAAAGCTCATGTAGAGTTATTGGAGGAAAAATGTTATTAGTGTNNNN
|
benign
| 39,213 |
Regarding the variant found on chromosome 2 at position 73422963 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Alstrom_syndrome']
|
CTCAAAAAAGAGGGATGCAAGCCAGTAACAGATATCCACACTTGAGGAAACAAGAAGCAGTTGAAAGCTGTAAGAAAAAGGCATGGCAAGTAAAATACACCACCTTCCCATCACACACACACAGATAATGTTGTACACTTGAGAATCATTAACTCTTCAGCTTTGGCCTGCTCCTTTAGCAAATACATTTGCCTATTTATGTGATTTAACTGTCCAACTCCACCCTGAGATATTCTTAAATATTTAAGGAGATGCTGAAATGCTGCTTGTAACTTACTTGTTACTTACTATTCCTTACTTATACTTAAATAGCTATTTTAGGTACTGAGGATTTCTGTAGGTTCTGAAACCTAGTTAGGGTTAACTCTAATTTTTTTTGAGAAAAGACTGTCAGATTCTTTAAATACTCAGCCTGCAGTTAACTGGAAATAGTAAATTTGCTTTACTTGCCCAAAGGTCCCCCTTGTAGCATCAGCTCTAGTGTATTTGGGGACTTTGTTAAAAACTCTTCATGAGTTTTAGAGGGGTGAAGGACTGTTACGGAGGTTTAAGACTGCTTCTCTGTGCCAAGACCAAAGAGGAACTGTACCAATTGTTCCTTGGTGGCAAAGGTTATTGTTACATATCAGTTTTTCATTTTTAATTAATTCATTCAGTAAATAAATAACTCTCTTTTGAGTACCTTTTAAGTGTAGCAGGTACTTTGCTAGGCACTGAGGATATAGCTATGGATAAAGTAGACACAGTTGACAATTTAGATGGGAAGTGGATAGACTGAAGATTAAAACAAGAGGGTGATGAATTATATGGAAGGTATGCAGGGTATATAAGCAGTGACAGTATGTGTTTTGACTAAGTAAAGGACAGATGACAACATGGTGAGCTCTGTGAACTCTAGATTTGCAGTAATTTCAGGGGGAACAGTAATGTGAGAGAGGAGTCCTCACTTTGTACACAGTGTTGCAGGCATTCTGAAATCAAGAAAGTATACTGATTAAAATAAGAATGATTTAAGTCAACATTCAGGAAATCACAAGAATTTTTTTTTCATTAAAGCAGCAGTTCAAACTTTTTGGGTAACAGGATTCTTTTACACTTTTAAAAATTACTGACAACTCCAAAGAGCTTTTGTTTATTTGGGTTATTGATATTTCCCACATTAGAAATTAAAACTGAAACATTTAAAATGTATTTATTAATTCATTGAAAAAGTACATATTTTATAAAAAATAACTTTTCCAATACAAAAATGTTTAGAAGTATGGCCATGTTTTACTTAAACAATTCTATAATGTCTGACATAATAGAAAACATCAAGACTCTCATGTCTGTTTCTGTATTCAATCTGTTGCTGTATCATATATTCTGTAGCTTCTGGAAAATGTCACTGTATCTTTTTGAGAGAATGGGAGTGAATAAGGCATATGATATCTTAATATTATTTTGAATAAAATTTTGACATTAGGTACCCCCTAAGAGTGTCTTAGGGCCCAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACA
|
CTCAAAAAAGAGGGATGCAAGCCAGTAACAGATATCCACACTTGAGGAAACAAGAAGCAGTTGAAAGCTGTAAGAAAAAGGCATGGCAAGTAAAATACACCACCTTCCCATCACACACACACAGATAATGTTGTACACTTGAGAATCATTAACTCTTCAGCTTTGGCCTGCTCCTTTAGCAAATACATTTGCCTATTTATGTGATTTAACTGTCCAACTCCACCCTGAGATATTCTTAAATATTTAAGGAGATGCTGAAATGCTGCTTGTAACTTACTTGTTACTTACTATTCCTTACTTATACTTAAATAGCTATTTTAGGTACTGAGGATTTCTGTAGGTTCTGAAACCTAGTTAGGGTTAACTCTAATTTTTTTTGAGAAAAGACTGTCAGATTCTTTAAATACTCAGCCTGCAGTTAACTGGAAATAGTAAATTTGCTTTACTTGCCCAAAGGTCCCCCTTGTAGCATCAGCTCTAGTGTATTTGGGGACTTTGTTAAAAACTCTTCATGAGTTTTAGAGGGGTGAAGGACTGTTACGGAGGTTTAAGACTGCTTCTCTGTGCCAAGACCAAAGAGGAACTGTACCAATTGTTCCTTGGTGGCAAAGGTTATTGTTACATATCAGTTTTTCATTTTTAATTAATTCATTCAGTAAATAAATAACTCTCTTTTGAGTACCTTTTAAGTGTAGCAGGTACTTTGCTAGGCACTGAGGATATAGCTATGGATAAAGTAGACACAGTTGACAATTTAGATGGGAAGTGGATAGACTGAAGATTAAAACAAGAGGGTGATGAATTATATGGAAGGTATGCAGGGTATATAAGCAGTGACAGTATGTGTTTTGACTAAGTAAAGGACAGATGACAACATGGTGAGCTCTGTGAACTCTAGATTTGCAGTAATTTCAGGGGGAACAGTAATGTGAGAGAGGAGTCCTCACTTTGTACACAGTGTTGCAGGCATTCTGAAATCAAGAAAGTATACTGATTAAAATAAGAATGATTTAAGTCAACATTCAGGAAATCACAAGAATTTTTTTTTCATTAAAGCAGCAGTTCAAACTTTTTGGGTAACAGGATTCTTTTACACTTTTAAAAATTACTGACAACTCCAAAGAGCTTTTGTTTATTTGGGTTATTGATATTTCCCACATTAGAAATTAAAACTGAAACATTTAAAATGTATTTATTAATTCATTGAAAAAGTACATATTTTATAAAAAATAACTTTTCCAATACAAAAATGTTTAGAAGTATGGCCATGTTTTACTTAAACAATTCTATAATGTCTGACATAATAGAAAACATCAAGACTCTCATGTCTGTTTCTGTATTCAATCTGTTGCTGTATCATATATTCTGTAGCTTCTGGAAAATGTCACTGTATCTTTTTGAGAGAATGGGAGTGAATAAGGCATATGATATCTTAATATTATTTTGAATAAAATTTTGACATTAGGTACCCCCTAAGAGTGTCTTAGGGCCCAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTAGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAAC
|
pathogenic
| 39,237 |
Is chromosome 2, position 73424412, gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
AAAATTTTGACATTAGGTACCCCCTAAGAGTGTCTTAGGGCCCAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCT
|
AAAATTTTGACATTAGGTACCCCCTAAGAGTGTCTTAGGGCCCAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTNNNN
|
benign
| 39,243 |
The mutation impacting ALMS1 (ALMS1 centrosome and basal body associated protein) on chromosome 2 at position 73424454: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Alstrom_syndrome']
|
CAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCT
|
CAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATAACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCC
|
pathogenic
| 39,245 |
Does the variant on chromosome 2 at location 73424467 affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Alstrom_syndrome']
|
GCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCT
|
GCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTNNN
|
pathogenic
| 39,246 |
Is the genetic variant on chromosome 2, position 73424497, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Alstrom_syndrome', 'Retinitis_pigmentosa']
|
TATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTA
|
TATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTANN
|
pathogenic
| 39,250 |
Clinical significance of chromosome 2, position 73424670, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy']
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TACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTC
|
TACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTCNN
|
pathogenic
| 39,261 |
Determine if the mutation at chromosome 2, position 73424754 in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Alstrom_syndrome']
|
TAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTCATGGTGATCTAGAGATGCATGACAGCTCCCTGCACTGGCAGCCTACTTTACAACTACCATCTGAGAAGGAAAGCAATTTTGAAA
|
TAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTCATGGTGATCTAGAGATGCATGACAGCTCCCTGCACTGGCAGCCTACTTTACAACTACCATCTGAGAAGGAAAGCAATTTTGAAAN
|
pathogenic
| 39,266 |
Clinical significance of chromosome 2, position 73424857, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['ALMS1-related_disorder', 'Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy']
|
TAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTCATGGTGATCTAGAGATGCATGACAGCTCCCTGCACTGGCAGCCTACTTTACAACTACCATCTGAGAAGGAAAGCAATTTTGAAAAGCCTGTAAGTTTTTCTATTTGACATTTTTTTCTGGGCGGGGAGGGAATGTTTTATTTGAAAAATTTCCAAATTTTATTTGAAAATACTTTATTTGAAAAATT
|
TAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTCATGGTGATCTAGAGATGCATGACAGCTCCCTGCACTGGCAGCCTACTTTACAACTACCATCTGAGAAGGAAAGCAATTTTGAAAAGCCTGTAAGTTTTTCTATTTGACATTTTTTTCTGGGCGGGGAGGGAATGTTTTATTTGAAAAATTTCCAAATTTTATTTGAAAATACTTTATTTGAAAAATTNNNNNNN
|
pathogenic
| 39,278 |
The mutation impacting ALMS1 (ALMS1 centrosome and basal body associated protein) on chromosome 2 at position 73432289: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAACCAACGTGCCTGGCCGGTATTACCTACTTTAATAGTTCTATATTTTGAAACTTTAACATAATGAAATTTTTTTGACGTCAAGCTTGTAATAAAAATTTTTCTTTCTGTGTTTGAAAGCTGTAGAAGAAAAACTGCTGTAAACTATAAACACACACTGTCTCTCACAAGTGTCTATATATTATATATGGTCATGCCACATAATGATATTTCAGTTAGTGACAGACTGCATATATGATGGTAGTCCCATAAGATTAAAATACTGTATTTTTACTGTACCTTTCCTATGTTTAGATACACAAATGCCACTGTGTTACAGTTGCCTACAATATTTAGAACAGTAACATGCTGATAGGTTTGTATCCTGGAAGCAGTAGGCTAGACCATATAGCCTAGGTGTGTAGTAGGCTACACAGTTGTAGGTTTGTGTAAGTCACTCTGTGATGTTTGCACAACAACAAAATTGCCTGACAGCACATTTCTCAGAACATACCCACATCATTAAGTGATCTATGACTGCATATTATATATATGCATATATATTTATATATATTTATGTGTATGTATATATGTGTATATATATAGCCTGTACTTCAGAGAAGTTTCCTGTAGGAGTGAGGTAATTGAAAACTATGAACTTTGTGCTATGTGGAGAGCAGGGCTTCTTAGCAGCCTTATCATTTTGAGTTGGATAATTCTTTGTTATGGTGGGAGGCGTGTTTCCTGAGTATTGTAGGATGTTTTGCATCATCCATCCCTGGCCTCTATTCACTAGATACTAGTAACATCCCCTCCCCTCACAAGTTATGACAGCAAAAAATGTTTCCAGGCATTGTCAAATGTCCCTTGATGGGTACAAAATCTTCACAAGTTGAAAAGTAGAGAAACCTGTATGGGCAGTAGATGTAGATATAGAAATAGATATGGAATGTTCATTTCCACACTTCACATGGCTTCCTAAGAATGTTCATTACTACACAATGAAAAATTGATGAAAGAGGATAGAAAAATTCATGCTTATGTACATTTTTAGACTTCATCCTGAGAAGATGTGACTGAAATAATCTTTTTAGGGAAATAAAGACAATCTAAAAATGATATATATTTTTATGTGAGGGTGCACTGTGAATTTGGTGAAAAGTTGTACATGTTTAGGTATTAATGTCACCAATATTGGTTTCTAATTTCTTTTCTAGCAAGAACTTGTGACTTGATGAAACATTAGGAACTTCTTTTTGAGCAGTTACCCTTTACTTCACTACCAATTTATAGTTTCCACTACTTTTGTTTTAAGAAGTTTGAGGACTTATGCTTGTTGGTAACCGATCACAGTTATAGTTCTTTGATACTCTCATTTTTCTTCTAAACATTTGTGAGTTTCTAGAAAATATTCCTGTTTTCTTTTTCCTTCTTACTGTTTCTTGTCCACAGTGCACCTCTCTACCTTAAAAAGAAATACCTGAGCTTGTCCAGAATAATCCCATGGTTCAAATTCTGCGATGATCATAAGGAGCAAACTTCTGAGTAACAGAACACTTCTAAGCATACTATCTATAATATTTTATCTAGACAGATTTCTAAGCCCTCAGGATGATTTAGTCTTCTAGAGTTGACCCAATAAAATATGACCTATATATGAATTCAGAAGGTTTGAGATTATGATCTTAAGTAACTAGTATAACTTCTTAGTGTTCCTCTTTGTAAAAATGAAGGATTATTTTTAGCAGATGAGGTTTGAAATTAATATCTTATTTTCTTCATTTCTTCGTAGGTGGGTCATTCTAATCTGGGCATTAATGAGTCTTTTTCATTTTTATTGCCTTCATTTGTTCCACATAAGCCAACAAGAGAGTCGGAATATCACTCTTCAGATCTCAGAATGTTGAGGATGTCTCCTGACACTGTGCCAAAGGCTCCTAAACATTTAAAAGCAGGTACGTAGAAAAAGGAGATAGTAAATGTCCTACTTACGGATACCTTGTGAAAAAATATCTTGTTAGGTCTATCTAATTTTGTATTTTTTAATATCTATAATAATTATACTTCAGATTAGATGTGTTTATAAATCCTGTCTTAGTCTCTTTAGACTGCTATTACAAAAATATCTTAGTACTTTAAGTATGGCTTATAAACAACAGAAATTTGTTTCTTGCAGTTCTAGAGGCTGGTTCCAAGATCAAGTGCTGGGAGATTCAGTGTCTTGTGAGGGCCTGTTTGTCATAGATGACATGTTCCTCTGTGCCCTCCCATGGTGGAAGGGGCAGGGGGTCTCTCTGGAGTCGTTTTTTGTAATGGGCACTAATCCCAAACATGTGGCCTGTGTCCTCATGATCTAATTGCTTTCCAAAAGCCTTACCTCCTTAATTTCATCACCTTGGGGATTAGGATTTCAACCTATACTTTTCAGGGGGGACACAAACATTCAGACCATCACAAGTCCCCTGATGTTTTATTAGAGGAATCATTTGGTTTTTCATCGCATTCTACATGGCAGTGTTTAGAACTGAATTATATGGAGGAGTCTGATGTTAGAATCTGTTTATTCCTTTGTGTGACTTGAAGGGAAAAAGGAATTGATTGAGCCCAAGATGACAAGAGTGGATGCAGATAAGTTTGTAGAGAGGAAATTGAGAGAAATCAGTTTTGAGGTAAAAGCAAGATTATCTGCTGAGGGAGGTGAGTAGTGGTGGAATTAGGTTAGAGGCATTGAGGAGAGTGGTTTGGTGAAGACTTACAGTTTATGTTGAAGTGAATTTGAGATGGAGCTGACCAAGGGAAAGTAAAAGGATTGGAGGGCAGTTCTGAGAAGTCAGCTCAGGTTAGTGATAATGATTTTATAATATTGTCAGCCTGTATAGAATCTCTGATTTGTTTTTCCTGCTAACACTCAGGAATGGAGATGATGAATTACAGTATTGATCCTTGGTTCAGGAATACATTGAATGGGTATGGTAGAAGGATAGCAGTCAAAGAGAGAAGAGTTGATCACCTATTGGTTTCAGCCTACATAGGGAAAGAGAAGCCAGAAGAGTTGTTATTCTAGGAGAAAATAGAAGGACCAGAGATTTCTTTATGAAGTTGATTAGATGAGGTGGGAATAAGTTACTGAGAGCACTAGAAGAATAGGTAATTTTGGTCAGATTGAATAAGTAGATTTAAATGAGGATCAGTTTGAAGGGTGATGAAATCCATTAAATAGCCCTGGGATTGGATGGTAGAAATTGAATAAAAATTACTGGAGTAAATAAAATTTTGGGTCAGGTACAGTGTCTTATGCTTGTAATCTCAGTACTTTGGGAGGCTGAGGTGGGAGGATCACTTGGAAGAGTCTGGAAAGGATTGGTATTAATTGTTTTTGAATAGAATTTACTGTGAAACTACCTGGGCTGTTCTTTGTAGGAAGTTTTTAAATTGCTAATTTCATCTCTTTCCTTGCCATAAGTCTATTTAGATTTTATATTTTTCATGAATCAGCTTTTGCAATTTGTGTCTTAAATAGAATTTGTCCATTTAGCTAGGCTATCTGTTTACATATATCTGTTCATAATATTCCCATGTAATCTCTTTCATTTCAGTAAGGTTAGTTACAATGCCCTCTCTTTCATTCCTGATTTTAGTAACTTAAGTTTTCCCTTCTTTTGTTCTCCCTTTGGTGAATCTAGTTAAATTTTGTCAATTTTGCTGATTTTTTCAAATAAACTGGTTTCTTTATTTTTTTCTAATCTTTATTTTTCTTTTCTGATTTTTGTTTCATTTATTTTCATTCTAGTCATTATTTTTCCTTCCTTCCATTTGCTTTGGGTTTAGTTTGTGCTTTTATTCTGTTTTTTAAGGTGGACAGTTAGGTTATTGATTTAAGCTCTTTCTTCTTCTTATTACAAATATGTATACAAATTGATAAATTCCTAAGCACTGTGTTAGCTGCATGTCCTAAGTTTTGGTTTATTATATTTTTGTTTTAGTTCATCTAAACTTATTT
|
TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAACCAACGTGCCTGGCCGGTATTACCTACTTTAATAGTTCTATATTTTGAAACTTTAACATAATGAAATTTTTTTGACGTCAAGCTTGTAATAAAAATTTTTCTTTCTGTGTTTGAAAGCTGTAGAAGAAAAACTGCTGTAAACTATAAACACACACTGTCTCTCACAAGTGTCTATATATTATATATGGTCATGCCACATAATGATATTTCAGTTAGTGACAGACTGCATATATGATGGTAGTCCCATAAGATTAAAATACTGTATTTTTACTGTACCTTTCCTATGTTTAGATACACAAATGCCACTGTGTTACAGTTGCCTACAATATTTAGAACAGTAACATGCTGATAGGTTTGTATCCTGGAAGCAGTAGGCTAGACCATATAGCCTAGGTGTGTAGTAGGCTACACAGTTGTAGGTTTGTGTAAGTCACTCTGTGATGTTTGCACAACAACAAAATTGCCTGACAGCACATTTCTCAGAACATACCCACATCATTAAGTGATCTATGACTGCATATTATATATATGCATATATATTTATATATATTTATGTGTATGTATATATGTGTATATATATAGCCTGTACTTCAGAGAAGTTTCCTGTAGGAGTGAGGTAATTGAAAACTATGAACTTTGTGCTATGTGGAGAGCAGGGCTTCTTAGCAGCCTTATCATTTTGAGTTGGATAATTCTTTGTTATGGTGGGAGGCGTGTTTCCTGAGTATTGTAGGATGTTTTGCATCATCCATCCCTGGCCTCTATTCACTAGATACTAGTAACATCCCCTCCCCTCACAAGTTATGACAGCAAAAAATGTTTCCAGGCATTGTCAAATGTCCCTTGATGGGTACAAAATCTTCACAAGTTGAAAAGTAGAGAAACCTGTATGGGCAGTAGATGTAGATATAGAAATAGATATGGAATGTTCATTTCCACACTTCACATGGCTTCCTAAGAATGTTCATTACTACACAATGAAAAATTGATGAAAGAGGATAGAAAAATTCATGCTTATGTACATTTTTAGACTTCATCCTGAGAAGATGTGACTGAAATAATCTTTTTAGGGAAATAAAGACAATCTAAAAATGATATATATTTTTATGTGAGGGTGCACTGTGAATTTGGTGAAAAGTTGTACATGTTTAGGTATTAATGTCACCAATATTGGTTTCTAATTTCTTTTCTAGCAAGAACTTGTGACTTGATGAAACATTAGGAACTTCTTTTTGAGCAGTTACCCTTTACTTCACTACCAATTTATAGTTTCCACTACTTTTGTTTTAAGAAGTTTGAGGACTTATGCTTGTTGGTAACCGATCACAGTTATAGTTCTTTGATACTCTCATTTTTCTTCTAAACATTTGTGAGTTTCTAGAAAATATTCCTGTTTTCTTTTTCCTTCTTACTGTTTCTTGTCCACAGTGCACCTCTCTACCTTAAAAAGAAATACCTGAGCTTGTCCAGAATAATCCCATGGTTCAAATTCTGCGATGATCATAAGGAGCAAACTTCTGAGTAACAGAACACTTCTAAGCATACTATCTATAATATTTTATCTAGACAGATTTCTAAGCCCTCAGGATGATTTAGTCTTCTAGAGTTGACCCAATAAAATATGACCTATATATGAATTCAGAAGGTTTGAGATTATGATCTTAAGTAACTAGTATAACTTCTTAGTGTTCCTCTTTGTAAAAATGAAGGATTATTTTTAGCAGATGAGGTTTGAAATTAATATCTTATTTTCTTCATTTCTTCGTAGGTGGGTCATTCTAATCTGGGCATTAATGAGTCTTTTTCATTTTTATTGCCTTCATTTGTTCCACATAAGCCAACAAGAGAGTCGGAATATCACTCTTCAGATCTCAGAATGTTGAGGATGTCTCCTGACACTGTGCCAAAGGCTCCTAAACATTTAAAAGCAGGAGATAGTAAATGTCCTACTTACGGATACCTTGTGAAAAAATATCTTGTTAGGTCTATCTAATTTTGTATTTTTTAATATCTATAATAATTATACTTCAGATTAGATGTGTTTATAAATCCTGTCTTAGTCTCTTTAGACTGCTATTACAAAAATATCTTAGTACTTTAAGTATGGCTTATAAACAACAGAAATTTGTTTCTTGCAGTTCTAGAGGCTGGTTCCAAGATCAAGTGCTGGGAGATTCAGTGTCTTGTGAGGGCCTGTTTGTCATAGATGACATGTTCCTCTGTGCCCTCCCATGGTGGAAGGGGCAGGGGGTCTCTCTGGAGTCGTTTTTTGTAATGGGCACTAATCCCAAACATGTGGCCTGTGTCCTCATGATCTAATTGCTTTCCAAAAGCCTTACCTCCTTAATTTCATCACCTTGGGGATTAGGATTTCAACCTATACTTTTCAGGGGGGACACAAACATTCAGACCATCACAAGTCCCCTGATGTTTTATTAGAGGAATCATTTGGTTTTTCATCGCATTCTACATGGCAGTGTTTAGAACTGAATTATATGGAGGAGTCTGATGTTAGAATCTGTTTATTCCTTTGTGTGACTTGAAGGGAAAAAGGAATTGATTGAGCCCAAGATGACAAGAGTGGATGCAGATAAGTTTGTAGAGAGGAAATTGAGAGAAATCAGTTTTGAGGTAAAAGCAAGATTATCTGCTGAGGGAGGTGAGTAGTGGTGGAATTAGGTTAGAGGCATTGAGGAGAGTGGTTTGGTGAAGACTTACAGTTTATGTTGAAGTGAATTTGAGATGGAGCTGACCAAGGGAAAGTAAAAGGATTGGAGGGCAGTTCTGAGAAGTCAGCTCAGGTTAGTGATAATGATTTTATAATATTGTCAGCCTGTATAGAATCTCTGATTTGTTTTTCCTGCTAACACTCAGGAATGGAGATGATGAATTACAGTATTGATCCTTGGTTCAGGAATACATTGAATGGGTATGGTAGAAGGATAGCAGTCAAAGAGAGAAGAGTTGATCACCTATTGGTTTCAGCCTACATAGGGAAAGAGAAGCCAGAAGAGTTGTTATTCTAGGAGAAAATAGAAGGACCAGAGATTTCTTTATGAAGTTGATTAGATGAGGTGGGAATAAGTTACTGAGAGCACTAGAAGAATAGGTAATTTTGGTCAGATTGAATAAGTAGATTTAAATGAGGATCAGTTTGAAGGGTGATGAAATCCATTAAATAGCCCTGGGATTGGATGGTAGAAATTGAATAAAAATTACTGGAGTAAATAAAATTTTGGGTCAGGTACAGTGTCTTATGCTTGTAATCTCAGTACTTTGGGAGGCTGAGGTGGGAGGATCACTTGGAAGAGTCTGGAAAGGATTGGTATTAATTGTTTTTGAATAGAATTTACTGTGAAACTACCTGGGCTGTTCTTTGTAGGAAGTTTTTAAATTGCTAATTTCATCTCTTTCCTTGCCATAAGTCTATTTAGATTTTATATTTTTCATGAATCAGCTTTTGCAATTTGTGTCTTAAATAGAATTTGTCCATTTAGCTAGGCTATCTGTTTACATATATCTGTTCATAATATTCCCATGTAATCTCTTTCATTTCAGTAAGGTTAGTTACAATGCCCTCTCTTTCATTCCTGATTTTAGTAACTTAAGTTTTCCCTTCTTTTGTTCTCCCTTTGGTGAATCTAGTTAAATTTTGTCAATTTTGCTGATTTTTTCAAATAAACTGGTTTCTTTATTTTTTTCTAATCTTTATTTTTCTTTTCTGATTTTTGTTTCATTTATTTTCATTCTAGTCATTATTTTTCCTTCCTTCCATTTGCTTTGGGTTTAGTTTGTGCTTTTATTCTGTTTTTTAAGGTGGACAGTTAGGTTATTGATTTAAGCTCTTTCTTCTTCTTATTACAAATATGTATACAAATTGATAAATTCCTAAGCACTGTGTTAGCTGCATGTCCTAAGTTTTGGTTTATTATATTTTTGTTTTAGTTCATCTAAACTTATTTNNNNNNNNNNNNNN
|
pathogenic
| 39,297 |
Evaluate this variant at chromosome 2, position 73448083, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
CTTCTGACAGTTTGACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTC
|
CTTCTGACAGTTTGACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCATTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCN
|
pathogenic
| 39,309 |
The chromosome 2, position 73448097 genetic variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTT
|
ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGAC
|
benign
| 39,312 |
Is the genetic variant on chromosome 2, position 73448097, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTT
|
ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTNNN
|
benign
| 39,313 |
Does the chromosome 2 mutation at position 73448133 within gene ALMS1 (ALMS1 centrosome and basal body associated protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Alstrom_syndrome']
|
AATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGT
|
AATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTNN
|
pathogenic
| 39,316 |
Is the genetic mutation found on chromosome 2 at position 73448258, within the gene ALMS1 (ALMS1 centrosome and basal body associated protein), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Hearing_impairment', 'Leukodystrophy', 'Stage_5_chronic_kidney_disease', 'Visual_impairment']
|
ACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTG
|
ACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGN
|
pathogenic
| 39,326 |
Variant at chromosome 2, position 73448315, gene ALMS1 (ALMS1 centrosome and basal body associated protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy']
|
TTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACAC
|
TTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAAC
|
pathogenic
| 39,329 |
Clinical classification of chromosome 2, position 73448466, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Alstrom_syndrome']
|
AAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTT
|
AAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTN
|
pathogenic
| 39,340 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73448660 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Alstrom_syndrome']
|
TTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAAC
|
TTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACNN
|
pathogenic
| 39,352 |
Determine if the mutation at chromosome 2, position 73448697 in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Alstrom_syndrome']
|
TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAA
|
TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTA
|
pathogenic
| 39,354 |
Evaluate this variant at chromosome 2, position 73448697, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Alstrom_syndrome']
|
TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAA
|
TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAN
|
pathogenic
| 39,355 |
A genetic variant at chromosome 2, position 73448747, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
CCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAA
|
CCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTAACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCA
|
pathogenic
| 39,359 |
Determine whether the variant at chromosome 2, position 73448839, in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Alstrom_syndrome']
|
CCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTG
|
CCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGNN
|
pathogenic
| 39,366 |
Regarding the variant found on chromosome 2 at position 73448966 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Alstrom_syndrome']
|
CCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTAC
|
CCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACNN
|
pathogenic
| 39,378 |
Regarding the variant at chromosome 2 and position 73449273, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
GCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTC
|
GCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTT
|
pathogenic
| 39,396 |
Is the genetic change at chromosome 2, position 73449435, within gene ALMS1 (ALMS1 centrosome and basal body associated protein) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Alstrom_syndrome']
|
TTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGA
|
TTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGANNNN
|
pathogenic
| 39,408 |
Assess the variant on chromosome 2, position 73449768, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Alstrom_syndrome']
|
ATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGA
|
ATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGANNNNNNNN
|
pathogenic
| 39,427 |
For chromosome 2, position 73449863, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Alstrom_syndrome']
|
TGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGA
|
TGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAN
|
pathogenic
| 39,436 |
Regarding the variant found on chromosome 2 at position 73450097 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Alstrom_syndrome']
|
TCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTT
|
TCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTN
|
pathogenic
| 39,449 |
Is the genetic variant on chromosome 2, position 73450213, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
TCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCA
|
TCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCANN
|
pathogenic
| 39,452 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome 2, position 73450242—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Alstrom_syndrome']
|
CTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTT
|
CTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTNNNN
|
pathogenic
| 39,455 |
Clinically, how would you classify the variant at chromosome 2, position 73450252, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Alstrom_syndrome']
|
ACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCT
|
ACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTNN
|
pathogenic
| 39,457 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome 2, position 73450679—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy']
|
GCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATC
|
GCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATAACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGAT
|
pathogenic
| 39,482 |
Evaluate if the mutation on chromosome 2 at position 73450774 in ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Alstrom_syndrome']
|
TCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGA
|
TCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAN
|
pathogenic
| 39,495 |
Variant in ALMS1 (ALMS1 centrosome and basal body associated protein), chromosome 2, position 73450815—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Alstrom_syndrome']
|
CTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAG
|
CTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGNNNN
|
pathogenic
| 39,498 |
Evaluate if the mutation on chromosome 2 at position 73450873 in ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Alstrom_syndrome']
|
AAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAA
|
AAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAA
|
pathogenic
| 39,504 |
Chromosome 2, position 73451340, gene ALMS1 (ALMS1 centrosome and basal body associated protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Alstrom_syndrome', 'Intellectual_disability']
|
TGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAG
|
TGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCA
|
pathogenic
| 39,529 |
Determine if the mutation at chromosome 2, position 73451436 in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Alstrom_syndrome']
|
CTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAG
|
CTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGNNNN
|
pathogenic
| 39,537 |
The mutation in gene ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73451528—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Alstrom_syndrome']
|
CCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAA
|
CCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAN
|
pathogenic
| 39,544 |
Assess the variant on chromosome 2, position 73451694, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy']
|
CTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTAT
|
CTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTA
|
pathogenic
| 39,554 |
Clinical classification of chromosome 2, position 73451700, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Alstrom_syndrome']
|
TACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTAT
|
TACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTA
|
pathogenic
| 39,556 |
Regarding the variant at chromosome 2 and position 73451724, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
ACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTC
|
ACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCNN
|
pathogenic
| 39,559 |
Regarding the variant at chromosome 2 and position 73451800, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Alstrom_syndrome']
|
AGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCT
|
AGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTN
|
pathogenic
| 39,565 |
Is the genetic variant on chromosome 2, position 73451806, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
AGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTT
|
AGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCCATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTN
|
pathogenic
| 39,566 |
Is the genetic variant on chromosome 2, position 73451987, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Alstrom_syndrome']
|
ACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATG
|
ACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGN
|
pathogenic
| 39,578 |
Benign or pathogenic: chromosome 2, position 73452426, gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant? Disease(s) if pathogenic?
|
pathogenic; ['Alstrom_syndrome']
|
CTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTG
|
CTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTT
|
pathogenic
| 39,599 |
Variant on chromosome 2, at position 73452449, affecting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Alstrom_syndrome']
|
AAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGT
|
AAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTN
|
pathogenic
| 39,602 |
Variant in ALMS1 (ALMS1 centrosome and basal body associated protein), chromosome 2, position 73452503—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Alstrom_syndrome']
|
GCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTG
|
GCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGNN
|
pathogenic
| 39,605 |
Chromosome 2, position 73452691, gene ALMS1 (ALMS1 centrosome and basal body associated protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
CACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCG
|
CACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAAATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGN
|
pathogenic
| 39,612 |
Considering the genetic mutation at chromosome 2, position 73453007, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Alstrom_syndrome']
|
TTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGC
|
TTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCNNNN
|
pathogenic
| 39,629 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 73453092, gene ALMS1 (ALMS1 centrosome and basal body associated protein): what disease(s) if pathogenic?
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
CTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCT
|
CTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTNNNN
|
pathogenic
| 39,635 |
Does the variant on chromosome 2 at location 73453112 affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Alstrom_syndrome']
|
ACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCC
|
ACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCN
|
pathogenic
| 39,636 |
Evaluate this variant at chromosome 2, position 73453295, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Alstrom_syndrome', 'Stickler_syndrome']
|
GGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGG
|
GGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGN
|
pathogenic
| 39,644 |
Variant chromosome 2, position 73453360, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease(s)?
|
pathogenic; ['Alstrom_syndrome']
|
GAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTT
|
GAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTN
|
pathogenic
| 39,647 |
Variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein), located at chromosome 2 position 73453423: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
TTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATC
|
TTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCN
|
pathogenic
| 39,651 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73453479—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Alstrom_syndrome']
|
GTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTC
|
GTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCNNNN
|
pathogenic
| 39,653 |
The chromosome 2, position 73453653 genetic variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Alstrom_syndrome']
|
CTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGG
|
CTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAG
|
pathogenic
| 39,661 |
Is the chromosome 2, position 73453752 variant in ALMS1 (ALMS1 centrosome and basal body associated protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Alstrom_syndrome']
|
TGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATT
|
TGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGATGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTN
|
pathogenic
| 39,665 |
A mutation at chromosome position 73453759 on chromosome 2 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Alstrom_syndrome']
|
CAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTC
|
CAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTT
|
pathogenic
| 39,666 |
Determine whether the variant at chromosome 2, position 73453825, in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Alstrom_syndrome']
|
GTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAAT
|
GTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAATNN
|
pathogenic
| 39,671 |
Evaluate this variant at chromosome 2, position 73453897, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy']
|
AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAATGTCACCCTTATTTTCTCTTGAAAGTGGTATCTTGAAATCCAGCTATTTTCAAATGTTTATTTTAAATACTTG
|
AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAATGTCACCCTTATTTTCTCTTGAAAGTGGTATCTTGAAATCCAGCTATTTTCAAATGTTTATTTTAAATACTTGNN
|
pathogenic
| 39,673 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73453897—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAATGTCACCCTTATTTTCTCTTGAAAGTGGTATCTTGAAATCCAGCTATTTTCAAATGTTTATTTTAAATACTTG
|
AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAATGTCACCCTTATTTTCTCTTGAAAGTGGTATCTTGAAATCCAGCTATTTTCAAATGTTTATTTTAAATACTTGNNNN
|
pathogenic
| 39,674 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73489783—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Alstrom_syndrome']
|
TCATCGAGTGGCAGAACAGTTTTCAGGAGACCCAAAGTGGGTAGCTCCTTTCTGCAGGCAGGTCATCCTGATGACTGTCCATCTGTCAGTGGAGAGGAGAACCTAGAGTGGGTAGCTCCTACCTGCATGCAGGTCATCCCATAATCTGCATCTTTCAGCAGAGAAGAGACCCGGAGTGGCTAGCTCCTATCTGCAGGCAGGTCATTCCATTGTCTCTCCAAGTCTGGCTGAGTCCAGGGTTTTTATGGGCTTCAAAGGGGAGGAGATGCATGCCAATTGGTCCATGGGCAGGCCCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTT
|
TCATCGAGTGGCAGAACAGTTTTCAGGAGACCCAAAGTGGGTAGCTCCTTTCTGCAGGCAGGTCATCCTGATGACTGTCCATCTGTCAGTGGAGAGGAGAACCTAGAGTGGGTAGCTCCTACCTGCATGCAGGTCATCCCATAATCTGCATCTTTCAGCAGAGAAGAGACCCGGAGTGGCTAGCTCCTATCTGCAGGCAGGTCATTCCATTGTCTCTCCAAGTCTGGCTGAGTCCAGGGTTTTTATGGGCTTCAAAGGGGAGGAGATGCATGCCAATTGGTCCATGGGCAGGCCCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTN
|
pathogenic
| 39,706 |
Is the variant located on chromosome 2 at position 73490076, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Alstrom_syndrome']
|
CCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTT
|
CCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGGCCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTN
|
pathogenic
| 39,718 |
Assess the variant on chromosome 2, position 73490089, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Alstrom_syndrome']
|
TATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCC
|
TATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCN
|
pathogenic
| 39,719 |
Considering the variant on chromosome 2, location 73490097, involving gene ALMS1 (ALMS1 centrosome and basal body associated protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Alstrom_syndrome']
|
CTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTA
|
CTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTANNNNNNNN
|
pathogenic
| 39,720 |
The genetic variant at chromosome 2, position 73490106, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Alstrom_syndrome']
|
GCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGC
|
GCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTG
|
pathogenic
| 39,722 |
Benign or pathogenic: chromosome 2, position 73490129, gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant? Disease(s) if pathogenic?
|
pathogenic; ['Alstrom_syndrome']
|
CATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATG
|
CATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGNNNNNNNNNNN
|
pathogenic
| 39,724 |
Regarding the variant at chromosome 2 and position 73490305, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy']
|
CTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTA
|
CTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTANNNN
|
pathogenic
| 39,733 |
Is the genetic variant on chromosome 2, position 73490332, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
AGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTA
|
AGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTAN
|
pathogenic
| 39,735 |
Determine whether the variant at chromosome 2, position 73490345, in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
GGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGAT
|
GGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGA
|
pathogenic
| 39,736 |
Does the genetic variant at chromosome 2, position 73490626, impacting gene ALMS1 (ALMS1 centrosome and basal body associated protein), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype']
|
GCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCA
|
GCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCANNNNN
|
pathogenic
| 39,754 |
Variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein), located at chromosome 2 position 73490674: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Alstrom_syndrome']
|
TTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCAAAAAAACAAGGTCAATCTCTGATTTCAATGTTAAAAATAGTAGAGTGC
|
TTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCAAAAAAACAAGGTCAATCTCTGATTTCAATGTTAAAAATAGTAGAGTG
|
pathogenic
| 39,756 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome 2, position 73490709—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Alstrom_syndrome']
|
CCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCAAAAAAACAAGGTCAATCTCTGATTTCAATGTTAAAAATAGTAGAGTGCCATAGAGATCAGTAATGATACCTTTAAAATTTTTT
|
CCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCAAAAAAACAAGGTCAATCTCTGATTTCAATGTTAAAAATAGTAGAGTGCCATAGAGATCAGTAATGATACCTTTAAAATTTTTTNNNN
|
pathogenic
| 39,761 |
Subsets and Splits
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