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
|
|---|---|---|---|---|---|
Considering the variant on chromosome 19, location 38448637, involving gene RYR1 (ryanodine receptor 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
CTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGG
|
CTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGN
|
benign
| 303,208 |
Gene RYR1 (ryanodine receptor 1) variant at chromosome 19, position 38448646—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['RYR1-related_disorder', 'RYR1-related_myopathy']
|
AGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCA
|
AGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCTGGTGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGATGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTGAGAGAAAGATAGAGACTGGGAGAGAAACTGAGACTGAGAGAAACAGCAAAAAAGACAAAGGGATATATCTACATGGAGAGAGAGAGAGAGCAGAAATCTGTAGACAGACAGGGAAAGGCAGAGATAAAGAGGCATGGAAACAGAGAAATAGAGAAAGATAGAGACAGAGAAACAGAGACACGGCCGGGCGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGTTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGGGAGTGAGCCAATATCGTGCCATTGCACTCCAGCCTGGCTGACAAGAGTGAAACTCCGTCTCAGAAAAACAAAAACAAAACAAAACAAAAACAAAAACAGAGAGAGTGAGAAAAAGATGGATAATGACCAACTGAGAATAACTTTCAACAAACAATTACTGAGTACCCGCGTTGTTCTGGTTGTGTGTGCAGAAAATAGATGAGCTGTAGCGACCTGTTCCCTGCCCTCCCAGTGCTCAGAAATTGTGAACAAACTGCCTTTAGTGAAGTACATAGTTTTACAATTAAGGAGTGGGAAAACTATTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCANNN
|
pathogenic
| 303,209 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 38451751, gene RYR1 (ryanodine receptor 1): what disease(s) if pathogenic?
|
benign
|
TTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCACCCTAAGCTTTTATTGTACAAGCGGGTCCTCTGCCTGAGCTGGCCATGTTGCCCATTCCTTTTCTGTACAACGTGGAAACAATAAATAAATAAATAACTAAATAAAGGGAAGATGGAGCCTCCATGTTGGACATGCGTAGCCCCAGGTATACCTTTTCTATCGGCACATTCCCCCATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATT
|
TTTTTGGCAGCAGGAACAGCATGTGCAAAGGTCCTGAGGTTAACATGAGCTTGGCTTGTTGCAGTAGCAGAAAGAAGCCACAGTGTGGAACAGGGTGAGCAGGCTGGAGTAGTGGTTGGTGAGGAAAGAGAGGGGATGGGAACAGCTCGTGTGAGGCCTTGTGGGCCATGGGAGAGGTCTAGTTTTGTTTGTTTGTTTGTTTTTTGTAGAGACGAGGTCTCATTATATTACACAGGCTGGTCTCAAACTCCTGGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGAGATTAAAGTGAAGTGTGAGCCACTGCTCCTGGCCAGGTTCTAGTTTTTATCCTGAGTGAGATGGGCTCACAGGAGATTTTGAGCAGGGCAGGGAAGTGACCTGACGCAGGATCACAGAATTCTTAGGCTGTCTCTGGGAACAGACTACGGTCAGGGGACAGAGCCAGAGCAGGGAGACCAGAGAAGAGACTGCCATGATGTTACAAATGGGAGATGACAGTGGACAGGACCAGGAGGGGACTGTGGAGTTGGGAAGAGTAGTAGATTCTGGTGGGGTCCTGAGGGTAGAGCCAACAGGATTTGCTGACAGATTGGCTGTGGGGTGAGAGAAGGGGAGGGGTTGAGGATGATGCCATGATTTTTTGCCCCAAGCAACTGGAAGGATGGAAGTGCTGAAACAGCCTCATTGTCTGGAGTATCACCCAAGGTTTGTGGTCTCACAGCCACAGAGAACAAGGACGCAGACACACAAAGAGTGAGGTTAAGAGGGGACATTTAATAGGCGAAAGAAGGAGCTCTCTACTGCAGAGAAGGGTCCCAGAAAAATGGGTTGAAATGCAGGGGGTTCCATGGTGAAATGCAGGGGGCTTTACAGATGAGCTGGTGGGGAGGTGGTATCTGATTTACCTAGGGTGCAAAAGACTGGTTGGACCAGTTGTGCCATTTGCATAGGGCACAAATTTCTGGCTGCCTCCACCCTAAGCTTTTATTGTACAAGCGGGTCCTCTGCCTGAGCTGGCCATGTTGCCCATTCCTTTTCTGTACAACGTGGAAACAATAAATAAATAAATAACTAAATAAAGGGAAGATGGAGCCTCCATGTTGGACATGCGTAGCCCCAGGTATACCTTTTCTATCGGCACATTCCCCCATGCAAGCTTGTAGCTCGATTTTCCAGGCTGCTCTTTGTTAGAAAAGAAATTATTTTGGGGGCTGCTTTCCGTTAGAAAGGAAACTCTGCCGAGGACTCTGTTGCCCTTACTCTCTGCCTAAATAATTTTTTTCTACCTCTTGTATCAGTGCCATCAACCAAGTTAGGGGACAGTCAGTGTTGGCTCAGAAGGACAGGGATCTTAGGCTTTACTGCCAGTGCCTAGAACAGAGCCACTTACTACAGCCTTGCTGAATGGACAAGTAGGAATCCTTGGGGAGGCACTCGTTTGCAAAAACAGGCCTGTAGTTGAATACATGAGCCAAGGGCGTAGAGACGGGGCCTGGGCCATGTCCAAAGTGGGGACACGTGAGCATCATCAGCAGGTGGATGGTGTTTACAGCCGCAGACTGGATGAGTTCTGGGGAGGTCGGCTTGGGGTGAAGCTGGCAGCCATGATGGTCTCACCTCGTGGAAAGGTGGTCTGGCATTCTATCTGGGACAGGTTCAATTTGGGGGTTAGAGCTTTCTGGTCGGGGGGAATGTTAAGTCAGCAGTAGGTACAGGTGGAAAGGGTCTGGCCTGGAGACAGAGACAGGAAGGAGATAGGGATAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGAGACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAGAGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCTGTCTCCCACTCCTAGGCCATGCTGCACCAGGAGGGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTGCTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAGCGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGGGCCCAGGAGCTTGAGACCAGCCTGGGCAGCATAGGGAGACCCCGCCTCTACCAAAAAAAAAAAAAAAAAAAAAAAAATTAGGCTGGGCACAGTGGCTCATGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGCGGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAATATAGTGAAACCCTGTCTCTATAAAAAAAATAACAAAATATTGGCCAGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTGCATGGGAAGCTGAGGAAGGAGGATTGCTTGAGCCGAGGGGGCAGAGGCTGCAGTGAGCCACTATACTCCAGCTTCACTGACAGAGCGAGACCCTTCTCAAAAAATAATAACAATAATATACACATGACCCCTAACCTCTAAACTCCTGACCTCTGTACACTTGACCCCTAATCTGACCTTGACAACCATGATCACATTCCTGATCATCACCCAACTTTCACACCCCTGACACCCAGAGCCTGGACCCTGGACCTCTCCATCCCTGAGTTCCGGGACCCCCCTGTACCTACACAGGAGCGAGTCCCAGTCCCAGCTCTGCCCTTGGCCATTGTGTGACCTCGGACAAATGCTTTTCCCTCTCTGCGTCTCGGTCTCCCTCTCTGTAAAACGGGTGGGTCTGGGGGAGTCTTGCGGGAGTGAGGTTGCGGCAGTGACGTTGCGGCAGTTAGCGCTCCCAGCCGTGGCTGACAGCTGCGAGGTCCCTGTAGGAGCCTGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTTATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCACGAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAGGTGAGGACGTGGCGAGGGCGGAGCGGGGCCTGTGGGCCCAGGGGGCGGGACCACTGAGGGGCGGGGCCACGGCGCTGGGCGGGGCAGGGCCTGAGGGACCTGGGGAAGTAGGGTCTGAGAAGGGGGCGGGGCAGGAGAAGGAGCCGGACAGGAACCCCAGCCAGTGAGAACACGATGGGGCGGGGCCTTGGGAGGGGCGGGCCTGCTGTGCTGGTGGGCAGGACCTTTGGGAAGGGGCAGGGCGTATGGCCGACCAGGGGGCGGGGCCTGGAGAGAAGGATGGAATAAAAGAGCTGAGGGGCGGGGCCTATGTGAAGCTCAGGTATAGGGTGAGGCCTGGGGAGGTGAGGCCAGGAGTGGGGCCAGAGGTCAGAGGTAGGGCTGCCGACTCAGCGGGCGGGGTCTGCTGGCGCGGGGTCTGTGGGGTGGGCGGACAGAATCAGTGTGGGGTATGGGAGGTGCCGAGGCAGAAATAGATCTTTGGGCATTAGGGAGGGGAGGCCAGCTGTGAACAAAACAGAAAAAAATCTCTGTCCTTATGGAGTTGACATGGCGGGGAGAGACAGGAGATCAATAAAATAAATAAGTAAATTGTATGGCATATTAGATGGTAATAACTGTTAAAGAGAAAAATTCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTN
|
benign
| 303,225 |
The mutation in gene RYR1 (ryanodine receptor 1) at chromosome 19, position 38455697—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder']
|
TCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAAACTCAGTCCTGGTGTTAATAAGGACTGAATTATCATAGACTGAATCTCATATTGGGGATAGAGTCAGAGAGGACAAGAATAGATATGGGGAGCCAAGGAGGAGAGGAGAGCAATGGGACTGATTGGGAATATGAAACCAAAGGGGCTGATTTAGATCTGGGAACACACCGTCACTAGTTGTTGAAGGAATATGAATTCGTGAATCCAAGAAAGACAAGGAAGGGAGGGCCTGGGTCTCCTATTGTGATGCCTCTTATTTTCCTCATCCTAGGGGATGCTCTCCATGGTCCTGAATTGCATAGACCGCCTAAATGTCTACACCACTGCTGCCCACTTTGCTGAGTTTGCAGGGGAGGAGGCAGCCGAGTCCTGGAAAGAGATTGTGAATCTTCTCTATGAACTCCTAGGTAGGGGTCCCAGTCCTGACTCCCCTGAGAACACCCCAGATCCCCAGTCCTATTGGATCTGACACCTCTTCCCCCCTCAGCTTCTCTAATCCGTGGCAATCGTAGCAACTGTGCCCTCTTCTCCACAAACTTGGACTGGCTGGTCAGCAAGCTGGATCGGCTGGAGGCCTCGTCTGGTAGGAGAACCCGGGGGAGTGGGACAGAGGCTTGTGGGAGGGGATGGGCATGGCCGCTTCACCTCTCATTCTGGGCACCCTGGCAGGCATCCTGGAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAATCACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCGGCCCCTCACCCCTGACCTCTCATCCCCTGAACTCTGAATGCTGGCCTCTCCCCAGGGCTCCAGAACTCTGCTCACTCCCTCACTTCCCTCCTCCATCTCATCTCTCACCTGTACGCCACTCCCACTGGCTTTCATCTCCACACAGGGGTCTCAAACAATGACTCTTAAGTTGATTCTGGGCCACAGATGTGCTTGGTTAGATCTCTGAAATGTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACACTGTCGCTCAGACTGGAGTGTAGTGGCGCTATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGACTACAGGCACACACCACCACGCCCAGCTAATTTTTGTATTTTTTTTTTAGTAGAGACAGGGTTTCACAATGTTGGCCAGGATGGTCTCGATCTCTTGGCTTCATGATCCGTCCACCTCAGCCTCCCAAATGCTGGAATTACAGGCGTGAACCACCAGCGCCTGGCATTTTTTTTTTTTTTTTTTTGATACAGAGTCTCGCTCTGTCACCCAGACTGGAGTGGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCCACCGGTGGCGCTGAAATGTTTTTAAAATTTTCAAATATTACAGCCTCTAGGTGGACTGTATATATATACACACACTCTGTAGTTTGCCATAGCCCTACAAGTTCCTGTTGCATTATTTCTAACCACTTCACACATTTATTCAGTCGGAGCAAAAGTAATTGCAGTTTTGCTATTAAAAGGAATGACAGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATAACAAAAACCAGAATTACTTTTGCTCCAGCCTAATACATTTTCCACTTGGCCCCTAAAGACACAAGTTTGCAACCCCTGCTGATTTAAAATTTCATCTTGATTCCTGTGTCTCTCACTGGTCGTTTCAGTCTGCCTTCTGACCTCTTACCTCACTACTCCAGTATCTCCTTCCTTACATTGCTGATACCTTATCCCAACTCATGTGACCCTCCCTCAGCCTCTTGCCAGATCTTCCTCTTTGACCCCTAACCTTTCTCTGATCCCTGACCTTCCACTTTCACCACCTCCTCTCAGTCAAAATTGCCACATCTTATCCCGATGCGCTGTCCTTTCCTCCTGGCTTCCCTCCCTCCCAGGGTTCTTCTGTAGATCCTGCCCTGGTGCCTACACACCCTTTAACCTCTGACCTTGACCTCTAGGTCCTGGACGTGCTATGCTCCCTGTGTGTGTGTAATGGTGTGGCTGTACGCTCCAACCAAGATCTTATTACTGAGAACTTGCTGCCTGGCCGTGAGCTTCTGCTGCAGACAAACCTCATCAACTATGTCACCAGGTCTGGCTCTCAACATCTGACCCCAGAACTCAGAACCTCTCAACCCTCTCCCTGACTTAGAGACTCCACACCCAGATGGATGTCCTTTCCTTAATCTCCCACCCCAGGGTTAAC
|
TCAGCAGGTAAGGGGTAGGGAGTGTTGGGGTTTTGCAGTTTAAGACAGAGCTGTCAGACAGGGTGACCTGGAGGAAGAGAGGAAGCCATGTGCAAAGGCCATGAGGTGGGCGGGTGTTTGGCATGTTCCAGAAACAGTCAGGTGGTGATTGGAGCAGGGAGGCTTGGGTGGGGGAGTGGGAGGAAATGAGGGCAGAGAGGTGACGAGGGCCAGGCCTTGGTGAGGACTTTGGCTTTGGGAGCCACAGGAGGTTTTGGTCCTCTACAGTCACAGCTAGTTAGTGGCAGAGCCGGTCAGTGTGATGCCACTTTGGTTGTGCTCTCCACTTTGAGGCACTGCTCCTCTCACTACTGATCTAGGCCCCAGGATGCAGATACAACAATTGTTTTGTTTTGTCTTGTTTTTTGAAACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAATGATTCTCCTGCCTCCTCAGCCTCCCAAGTAGCTGAAACTACAGGTGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTCGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCCACCTCCCAAAGAGCTGGGATTACAGGCGTGAGCCACTGCACCCAGACAGTTTTGTCCTTTTTGTTGATTTCACTGTTTATAATGTCTCCCAAGTGTAGTGCTGAAGTGCTGTCTAGCTTTCCTAAGTGCAAGAAAGCTATGATGTGCCTTACTGAGAAAATATGTGTTAGATAAGCTTAATTAAGGCATGAGTTATAGTACTGTTGGCTGTGAATTTAATGTTAATGACTCAACAATATATATTAAATAACTGTCTTTAAACAGAAACATAAAAAACAAGGTTATGTAATAAGTGGTTGATGAAAATACTGTCACAGACTCTCAGGGACTCCCTGTATTTCCCCTAGAAGCAGTGGTTCAGTATTTGATAATTCAGTCTTCATAATCACTTTATAGAACATAACTATGAATAATGAGAATTGATTGTATATGTTTTATGTACTTTTCTGTATGTATATTATGATTCACAATGAAATAAGAAAAAATATTAAAATGTAAAAAAAAAAAGAAAAGAAAAGATAAAGTGAGAAAAATCTTTCTGATGGTTGGTGTGGAGAATGAACTGGGCCTCTCCAGTTGGTGGGAGTGGGGTTCCAGTTGGATGGTTGGTGGGAGTGGGGTTCCTGGAAGTGAGTAGGATGGAGAGAAAAGTGCAGGAAGGGGAAGTATAAACTCAGTCCTGGTGTTAATAAGGACTGAATTATCATAGACTGAATCTCATATTGGGGATAGAGTCAGAGAGGACAAGAATAGATATGGGGAGCCAAGGAGGAGAGGAGAGCAATGGGACTGATTGGGAATATGAAACCAAAGGGGCTGATTTAGATCTGGGAACACACCGTCACTAGTTGTTGAAGGAATATGAATTCGTGAATCCAAGAAAGACAAGGAAGGGAGGGCCTGGGTCTCCTATTGTGATGCCTCTTATTTTCCTCATCCTAGGGGATGCTCTCCATGGTCCTGAATTGCATAGACCGCCTAAATGTCTACACCACTGCTGCCCACTTTGCTGAGTTTGCAGGGGAGGAGGCAGCCGAGTCCTGGAAAGAGATTGTGAATCTTCTCTATGAACTCCTAGGTAGGGGTCCCAGTCCTGACTCCCCTGAGAACACCCCAGATCCCCAGTCCTATTGGATCTGACACCTCTTCCCCCCTCAGCTTCTCTAATCCGTGGCAATCGTAGCAACTGTGCCCTCTTCTCCACAAACTTGGACTGGCTGGTCAGCAAGCTGGATCGGCTGGAGGCCTCGTCTGGTAGGAGAACCCGGGGGAGTGGGACAGAGGCTTGTGGGAGGGGATGGGCATGGCCGCTTCACCTCTCATTCTGGGCACCCTGGCAGGCATCCTGGAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAATCAATCACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCGGCCCCTCACCCCTGACCTCTCATCCCCTGAACTCTGAATGCTGGCCTCTCCCCAGGGCTCCAGAACTCTGCTCACTCCCTCACTTCCCTCCTCCATCTCATCTCTCACCTGTACGCCACTCCCACTGGCTTTCATCTCCACACAGGGGTCTCAAACAATGACTCTTAAGTTGATTCTGGGCCACAGATGTGCTTGGTTAGATCTCTGAAATGTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACACTGTCGCTCAGACTGGAGTGTAGTGGCGCTATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGACTACAGGCACACACCACCACGCCCAGCTAATTTTTGTATTTTTTTTTTAGTAGAGACAGGGTTTCACAATGTTGGCCAGGATGGTCTCGATCTCTTGGCTTCATGATCCGTCCACCTCAGCCTCCCAAATGCTGGAATTACAGGCGTGAACCACCAGCGCCTGGCATTTTTTTTTTTTTTTTTTTGATACAGAGTCTCGCTCTGTCACCCAGACTGGAGTGGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCCACCGGTGGCGCTGAAATGTTTTTAAAATTTTCAAATATTACAGCCTCTAGGTGGACTGTATATATATACACACACTCTGTAGTTTGCCATAGCCCTACAAGTTCCTGTTGCATTATTTCTAACCACTTCACACATTTATTCAGTCGGAGCAAAAGTAATTGCAGTTTTGCTATTAAAAGGAATGACAGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATAACAAAAACCAGAATTACTTTTGCTCCAGCCTAATACATTTTCCACTTGGCCCCTAAAGACACAAGTTTGCAACCCCTGCTGATTTAAAATTTCATCTTGATTCCTGTGTCTCTCACTGGTCGTTTCAGTCTGCCTTCTGACCTCTTACCTCACTACTCCAGTATCTCCTTCCTTACATTGCTGATACCTTATCCCAACTCATGTGACCCTCCCTCAGCCTCTTGCCAGATCTTCCTCTTTGACCCCTAACCTTTCTCTGATCCCTGACCTTCCACTTTCACCACCTCCTCTCAGTCAAAATTGCCACATCTTATCCCGATGCGCTGTCCTTTCCTCCTGGCTTCCCTCCCTCCCAGGGTTCTTCTGTAGATCCTGCCCTGGTGCCTACACACCCTTTAACCTCTGACCTTGACCTCTAGGTCCTGGACGTGCTATGCTCCCTGTGTGTGTGTAATGGTGTGGCTGTACGCTCCAACCAAGATCTTATTACTGAGAACTTGCTGCCTGGCCGTGAGCTTCTGCTGCAGACAAACCTCATCAACTATGTCACCAGGTCTGGCTCTCAACATCTGACCCCAGAACTCAGAACCTCTCAACCCTCTCCCTGACTTAGAGACTCCACACCCAGATGGATGTCCTTTCCTTAATCTCCCACCCCAGGGT
|
pathogenic
| 303,284 |
Does the chromosome 19 mutation at position 38457579 within gene RYR1 (ryanodine receptor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Myopathy', 'RYR1-related_disorder']
|
CTGGAGGCCTCGTCTGGTAGGAGAACCCGGGGGAGTGGGACAGAGGCTTGTGGGAGGGGATGGGCATGGCCGCTTCACCTCTCATTCTGGGCACCCTGGCAGGCATCCTGGAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAATCACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCGGCCCCTCACCCCTGACCTCTCATCCCCTGAACTCTGAATGCTGGCCTCTCCCCAGGGCTCCAGAACTCTGCTCACTCCCTCACTTCCCTCCTCCATCTCATCTCTCACCTGTACGCCACTCCCACTGGCTTTCATCTCCACACAGGGGTCTCAAACAATGACTCTTAAGTTGATTCTGGGCCACAGATGTGCTTGGTTAGATCTCTGAAATGTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACACTGTCGCTCAGACTGGAGTGTAGTGGCGCTATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGACTACAGGCACACACCACCACGCCCAGCTAATTTTTGTATTTTTTTTTTAGTAGAGACAGGGTTTCACAATGTTGGCCAGGATGGTCTCGATCTCTTGGCTTCATGATCCGTCCACCTCAGCCTCCCAAATGCTGGAATTACAGGCGTGAACCACCAGCGCCTGGCATTTTTTTTTTTTTTTTTTTGATACAGAGTCTCGCTCTGTCACCCAGACTGGAGTGGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCCACCGGTGGCGCTGAAATGTTTTTAAAATTTTCAAATATTACAGCCTCTAGGTGGACTGTATATATATACACACACTCTGTAGTTTGCCATAGCCCTACAAGTTCCTGTTGCATTATTTCTAACCACTTCACACATTTATTCAGTCGGAGCAAAAGTAATTGCAGTTTTGCTATTAAAAGGAATGACAGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATAACAAAAACCAGAATTACTTTTGCTCCAGCCTAATACATTTTCCACTTGGCCCCTAAAGACACAAGTTTGCAACCCCTGCTGATTTAAAATTTCATCTTGATTCCTGTGTCTCTCACTGGTCGTTTCAGTCTGCCTTCTGACCTCTTACCTCACTACTCCAGTATCTCCTTCCTTACATTGCTGATACCTTATCCCAACTCATGTGACCCTCCCTCAGCCTCTTGCCAGATCTTCCTCTTTGACCCCTAACCTTTCTCTGATCCCTGACCTTCCACTTTCACCACCTCCTCTCAGTCAAAATTGCCACATCTTATCCCGATGCGCTGTCCTTTCCTCCTGGCTTCCCTCCCTCCCAGGGTTCTTCTGTAGATCCTGCCCTGGTGCCTACACACCCTTTAACCTCTGACCTTGACCTCTAGGTCCTGGACGTGCTATGCTCCCTGTGTGTGTGTAATGGTGTGGCTGTACGCTCCAACCAAGATCTTATTACTGAGAACTTGCTGCCTGGCCGTGAGCTTCTGCTGCAGACAAACCTCATCAACTATGTCACCAGGTCTGGCTCTCAACATCTGACCCCAGAACTCAGAACCTCTCAACCCTCTCCCTGACTTAGAGACTCCACACCCAGATGGATGTCCTTTCCTTAATCTCCCACCCCAGGGTTAACAACCAGTCCTCACAGATGTCCACTGTGGCCCCACTCTCCCTTGGCATCCACTCCTCTTGTTCTGTCTTCCTGGCTCCATTTCTGCCTCTATCTGTTTCTCTTTCTTTCTCCCTCTCCCTCTCTCTCTGTTTTCTCTTTTTATCTTTGCCTGTTTCTGTCTTGATTCTTCCTCCATGTCTTTCTCCCTGTCTCTCTCCCATCTCTCTCTCTCTGTCTTTGGATGTCTGTCTCTCTCTGGCTTCCCACCACTTGGCTCTCCTCTCTGCCTCTCCGTCATCCCCCTCTCCTGTCCCATCTCTCCTGCAGCATCCGCCCCAACATCTTTGTGGGCCGAGCGGAAGGCACCACGCAGTACAGCAAATGGTACTTTGAGGTGATGGTGGACGAGGTGACTCCATTTCTGACAGCTCAGGCCACCCACTTGCGGGTGGGCTGGGCCCTCACCGAGGGCTACACCCCCTACCCTGGGGCCGGCGAGGGCTGGGGCGGCAACGGGGTCGGCGATGACCTCTATTCCTACGGCTTTGATGGACTGCATCTCTGGACAGGTACCTGACCCCTTCCAGGGGACCCTCACCCCTGACCATTGACCCCAGCATTTCTAAGTCTCTGACCATACACCTTGGGGTTCTCAGGATCCTGACTCCCTGAAAAGGTCAACTTTTGACCTTTTAGTCCTCATTTCCCAAGACCCTAACCCCAGAGCTTCTAGATTCCCGGCTCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCCTGACCTCAAGTGATCCATCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCGGCCCCCAGGAGGATTTAATCTCTGGCCCCACAGCTCAGAATCCTAACTTCAGGGGAACCCTGACCTCTGCCCTTCATTTCAGAGCTACGGGAGCATCCAAGGGAGCACTTTCCATTAGGGTTTCCAGGATGCAATCTCCACAGGAGCCTCCAATATCTGTCCCTTTTCTCTTGTTATCATTGGTTCTGTGGGACCTGTGACGTCTGACCCATCTCTGGTGACTGATGCAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAAGACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAAGTGAGAACTTGCCCCCACCCCACGGCCAGTCCTCAGACCTAGGACTGACCTGAGACAGCTTCCCCAGTCACTCCATGGTCCCCCAGGAGGCCAGGACACTGCAGCCTACCATCAAGACTGACTGGTGTCCAGAACCCTTACTTGAAGATCCCAGGGACCTCCACGTGACTCCAGACTCTTTCCAATGACCTCAGATTCTCCCTAACCCCACGTCCTTCCAGTAACCTCTGAGATAATGGTCTCAGACTCTCCTAGTGGTCTCTCAACAACCCAAGGTTCTTCCGGTGA
|
CTGGAGGCCTCGTCTGGTAGGAGAACCCGGGGGAGTGGGACAGAGGCTTGTGGGAGGGGATGGGCATGGCCGCTTCACCTCTCATTCTGGGCACCCTGGCAGGCATCCTGGAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAATCACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCGGCCCCTCACCCCTGACCTCTCATCCCCTGAACTCTGAATGCTGGCCTCTCCCCAGGGCTCCAGAACTCTGCTCACTCCCTCACTTCCCTCCTCCATCTCATCTCTCACCTGTACGCCACTCCCACTGGCTTTCATCTCCACACAGGGGTCTCAAACAATGACTCTTAAGTTGATTCTGGGCCACAGATGTGCTTGGTTAGATCTCTGAAATGTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACACTGTCGCTCAGACTGGAGTGTAGTGGCGCTATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGACTACAGGCACACACCACCACGCCCAGCTAATTTTTGTATTTTTTTTTTAGTAGAGACAGGGTTTCACAATGTTGGCCAGGATGGTCTCGATCTCTTGGCTTCATGATCCGTCCACCTCAGCCTCCCAAATGCTGGAATTACAGGCGTGAACCACCAGCGCCTGGCATTTTTTTTTTTTTTTTTTTGATACAGAGTCTCGCTCTGTCACCCAGACTGGAGTGGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCCACCGGTGGCGCTGAAATGTTTTTAAAATTTTCAAATATTACAGCCTCTAGGTGGACTGTATATATATACACACACTCTGTAGTTTGCCATAGCCCTACAAGTTCCTGTTGCATTATTTCTAACCACTTCACACATTTATTCAGTCGGAGCAAAAGTAATTGCAGTTTTGCTATTAAAAGGAATGACAGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAAGGAATAACAAAAACCAGAATTACTTTTGCTCCAGCCTAATACATTTTCCACTTGGCCCCTAAAGACACAAGTTTGCAACCCCTGCTGATTTAAAATTTCATCTTGATTCCTGTGTCTCTCACTGGTCGTTTCAGTCTGCCTTCTGACCTCTTACCTCACTACTCCAGTATCTCCTTCCTTACATTGCTGATACCTTATCCCAACTCATGTGACCCTCCCTCAGCCTCTTGCCAGATCTTCCTCTTTGACCCCTAACCTTTCTCTGATCCCTGACCTTCCACTTTCACCACCTCCTCTCAGTCAAAATTGCCACATCTTATCCCGATGCGCTGTCCTTTCCTCCTGGCTTCCCTCCCTCCCAGGGTTCTTCTGTAGATCCTGCCCTGGTGCCTACACACCCTTTAACCTCTGACCTTGACCTCTAGGTCCTGGACGTGCTATGCTCCCTGTGTGTGTGTAATGGTGTGGCTGTACGCTCCAACCAAGATCTTATTACTGAGAACTTGCTGCCGTGAGCTTCTGCTGCAGACAAACCTCATCAACTATGTCACCAGGTCTGGCTCTCAACATCTGACCCCAGAACTCAGAACCTCTCAACCCTCTCCCTGACTTAGAGACTCCACACCCAGATGGATGTCCTTTCCTTAATCTCCCACCCCAGGGTTAACAACCAGTCCTCACAGATGTCCACTGTGGCCCCACTCTCCCTTGGCATCCACTCCTCTTGTTCTGTCTTCCTGGCTCCATTTCTGCCTCTATCTGTTTCTCTTTCTTTCTCCCTCTCCCTCTCTCTCTGTTTTCTCTTTTTATCTTTGCCTGTTTCTGTCTTGATTCTTCCTCCATGTCTTTCTCCCTGTCTCTCTCCCATCTCTCTCTCTCTGTCTTTGGATGTCTGTCTCTCTCTGGCTTCCCACCACTTGGCTCTCCTCTCTGCCTCTCCGTCATCCCCCTCTCCTGTCCCATCTCTCCTGCAGCATCCGCCCCAACATCTTTGTGGGCCGAGCGGAAGGCACCACGCAGTACAGCAAATGGTACTTTGAGGTGATGGTGGACGAGGTGACTCCATTTCTGACAGCTCAGGCCACCCACTTGCGGGTGGGCTGGGCCCTCACCGAGGGCTACACCCCCTACCCTGGGGCCGGCGAGGGCTGGGGCGGCAACGGGGTCGGCGATGACCTCTATTCCTACGGCTTTGATGGACTGCATCTCTGGACAGGTACCTGACCCCTTCCAGGGGACCCTCACCCCTGACCATTGACCCCAGCATTTCTAAGTCTCTGACCATACACCTTGGGGTTCTCAGGATCCTGACTCCCTGAAAAGGTCAACTTTTGACCTTTTAGTCCTCATTTCCCAAGACCCTAACCCCAGAGCTTCTAGATTCCCGGCTCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCCTGACCTCAAGTGATCCATCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCGGCCCCCAGGAGGATTTAATCTCTGGCCCCACAGCTCAGAATCCTAACTTCAGGGGAACCCTGACCTCTGCCCTTCATTTCAGAGCTACGGGAGCATCCAAGGGAGCACTTTCCATTAGGGTTTCCAGGATGCAATCTCCACAGGAGCCTCCAATATCTGTCCCTTTTCTCTTGTTATCATTGGTTCTGTGGGACCTGTGACGTCTGACCCATCTCTGGTGACTGATGCAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAAGACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAAGTGAGAACTTGCCCCCACCCCACGGCCAGTCCTCAGACCTAGGACTGACCTGAGACAGCTTCCCCAGTCACTCCATGGTCCCCCAGGAGGCCAGGACACTGCAGCCTACCATCAAGACTGACTGGTGTCCAGAACCCTTACTTGAAGATCCCAGGGACCTCCACGTGACTCCAGACTCTTTCCAATGACCTCAGATTCTCCCTAACCCCACGTCCTTCCAGTAACCTCTGAGATAATGGTCTCAGACTCTCCTAGTGGTCTCTCAACAACCCAAGGTTCTTCCGGTGANNNNN
|
pathogenic
| 303,295 |
Chromosome 19, position 38460434, gene RYR1 (ryanodine receptor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder']
|
GACTCCCTGAAAAGGTCAACTTTTGACCTTTTAGTCCTCATTTCCCAAGACCCTAACCCCAGAGCTTCTAGATTCCCGGCTCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCCTGACCTCAAGTGATCCATCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCGGCCCCCAGGAGGATTTAATCTCTGGCCCCACAGCTCAGAATCCTAACTTCAGGGGAACCCTGACCTCTGCCCTTCATTTCAGAGCTACGGGAGCATCCAAGGGAGCACTTTCCATTAGGGTTTCCAGGATGCAATCTCCACAGGAGCCTCCAATATCTGTCCCTTTTCTCTTGTTATCATTGGTTCTGTGGGACCTGTGACGTCTGACCCATCTCTGGTGACTGATGCAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAAGACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAAGTGAGAACTTGCCCCCACCCCACGGCCAGTCCTCAGACCTAGGACTGACCTGAGACAGCTTCCCCAGTCACTCCATGGTCCCCCAGGAGGCCAGGACACTGCAGCCTACCATCAAGACTGACTGGTGTCCAGAACCCTTACTTGAAGATCCCAGGGACCTCCACGTGACTCCAGACTCTTTCCAATGACCTCAGATTCTCCCTAACCCCACGTCCTTCCAGTAACCTCTGAGATAATGGTCTCAGACTCTCCTAGTGGTCTCTCAACAACCCAAGGTTCTTCCGGTGACCTCCCAATGACCTCAGACTTTCCCAGTGACTCCAGAATCTGATGATCTCATGACTCCAGACCTTCCTTGACTCCCCAGTGGCCTCAGACTCTCCCAATGACTCCAGAATCTGATAATGATCTAATGACTCCAGACCCTCCTTAACCCCCTAATGACTTCAGACTCTTCCAATGACACCATACTCTCTCAATAATCTCTTAATAATGCCAGCATCTCCCGATGACCTTTCAATAGACCCAGACTTGCCCAGTGACCCTGCTCCCGAATAACCCCATTTATTCCAAAGACCCCCCAATGATCCAGTCCTTTCCCAATCACCCCAAGCTCTCCGAATGTCCATTCAGTGGTGTTTATGTTTATTTCATAATTGTAACAGATGCTCAGTGACTTCTCAAATGACCTTCTTATTGGTCTCCCCAACCTTCCAATGACCCCGAATGCTCTGTTGACCTGGGGTCTCCTCTGAAGGACTGTTCCATGACCTTGCAGTCATCTGAACTCTTCTAGATTAACCAGAGACCCTCCCGCTCTCAACTCCCTGGCTCTTAATTCCCTTATGATATTCCTTTGACTCTAGACTTTCTTTTATGACTTCTAAATGACCTCCAGGACACTATGACTGCCCGGTGACCTTTGGTCTCCCCAGAACTTTCCATTGATCCCAGGACTGCTTCCATGTCCCCCACTGACCACAGACTGTCCCCCATAACCTCCCCTCAATGATCCCCATTGTCCTTCCTTACCCAGGGTGCGGTTCCTCCTTGGTGGCCGCCATGGTGAATTCAAGTTCCTGCCCCCACCTGGCTATGCTCCATGCCATGAGGCTGTGCTCCCTCGAGAGCGACTCCATCTTGAACCCATCAAGGAGTATCGACGGGAGGGGCCCCGGGGGCCTCACCTGGTGGGCCCCAGTCGCTGCCTCTCACACACCGACTTCGTGCCCTGCCCTGTGGACACTGTCCAGGTACTGCCTGCCCTGCAAAGGTTTTCTGGCGAGGCAGGGTCTCTTAGGAGTCAGAGAGGGGGCAGGGTGCCATCGTTCATGCCTGTAATCCCAGCACTTTGGATGGCCAGGCGTGGTGGCTCACGCCTGTAAGCCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAAGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCTGGGTGTGGTGGCGGGCGCCTATAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGGTCACGCCATTGTACTCCAGCCTAAGCAACAAGAGTGAAACTCCATGTCAAAACAAAACAAAACAAAAAACAAAAATTAGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCGTGCCACTACACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAACAAACAAACAAACAAAAACAACCAACATTTTGGGAAGCCGAAGTGGGGGCCTCGCGCTTGAGCCCGAAAGTTCGAGATTAGTATGGGTAACATAGTGATACCCCGTCTTTATAGAAAAAAATTTTTAATATTTACAAATTTAGACAATTTTTTAAAAGGAGTGAGAGAGGTGGGGAGCTGCCCTAGAAGCTGGGAACCTCGTTGTTTAACAGATGGAGAAACTGAGCACAGAGAGGCAAAGGATTCTGTCAGAGCAGAATCGCAGTCTCAGGGAGTCCTCACCACTGCCCCACAAAGAAAGGGTGGCTCACACCTGCGATCCTAGAACTCTGAGAGGCCGAGGCAGGATTGCTTGAGTCCACGAGTTTGAGACCAGCCTAGGCAACATAGCAAGACCCCATCTCTACTAAAAATTAAAAGTTAGCTGAGGTGATGGTCCACGACTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGGTCACTTGAGCCCAGGGATTCGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGAAAAAAAAAAAAAAAAAAAGAAAGGGAGAGAGAGAGAGAAAGAAAGAAAAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTAAAGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAATGAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAGAAGAAAGAAAGAAAGGACTGTTTTTGCCTTCCCTCCAAGCATGTCCCTATAGGAGGGAATATAGGTTAGGTTTAAAAGCCTGACAGCAAAGGTTTGGTTTTCAGTCACGTGATCTTGGGCATGTGACCTCCCCTCCCTGAGCCTCAGTTTGTTCCTCCGTGAGGAAAAGGGGATAACACCCTGATATCTGATAGCATTGTTCATTGTTGTGAAGGTAAGATGAATGGATATAGGCAAGATGCTTAGTCCAGTCCTGATTAAACAGTAAGCACTCAAGACAGTCACTCATTATTAGTAGCAGTGATATCATCTGCGGGGGTGACTTCATCCCCCTGTCCCCAGACCAGTGCCCTGGGCCTCACCCTGGATGCCTCTGTCCCCATCCCCCAGCCTGTCAGCCTCGTGGGCTGTCCACTCGGCCT
|
GACTCCCTGAAAAGGTCAACTTTTGACCTTTTAGTCCTCATTTCCCAAGACCCTAACCCCAGAGCTTCTAGATTCCCGGCTCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCCTGACCTCAAGTGATCCATCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCGGCCCCCAGGAGGATTTAATCTCTGGCCCCACAGCTCAGAATCCTAACTTCAGGGGAACCCTGACCTCTGCCCTTCATTTCAGAGCTACGGGAGCATCCAAGGGAGCACTTTCCATTAGGGTTTCCAGGATGCAATCTCCACAGGAGCCTCCAATATCTGTCCCTTTTCTCTTGTTATCATTGGTTCTGTGGGACCTGTGACGTCTGACCCATCTCTGGTGACTGATGCAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAAGACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAAGTGAGAACTTGCCCCCACCCCACGGCCAGTCCTCAGACCTAGGACTGACCTGAGACAGCTTCCCCAGTCACTCCATGGTCCCCCAGGAGGCCAGGACACTGCAGCCTACCATCAAGACTGACTGGTGTCCAGAACCCTTACTTGAAGATCCCAGGGACCTCCACGTGACTCCAGACTCTTTCCAATGACCTCAGATTCTCCCTAACCCCACGTCCTTCCAGTAACCTCTGAGATAATGGTCTCAGACTCTCCTAGTGGTCTCTCAACAACCCAAGGTTCTTCCGGTGACCTCCCAATGACCTCAGACTTTCCCAGTGACTCCAGAATCTGATGATCTCATGACTCCAGACCTTCCTTGACTCCCCAGTGGCCTCAGACTCTCCCAATGACTCCAGAATCTGATAATGATCTAATGACTCCAGACCCTCCTTAACCCCCTAATGACTTCAGACTCTTCCAATGACACCATACTCTCTCAATAATCTCTTAATAATGCCAGCATCTCCCGATGACCTTTCAATAGACCCAGACTTGCCCAGTGACCCTGCTCCCGAATAACCCCATTTATTCCAAAGACCCCCCAATGATCCAGTCCTTTCCCAATCACCCCAAGCTCTCCGAATGTCCATTCAGTGGTGTTTATGTTTATTTCATAATTGTAACAGATGCTCAGTGACTTCTCAAATGACCTTCTTATTGGTCTCCCCAACCTTCCAATGACCCCGAATGCTCTGTTGACCTGGGGTCTCCTCTGAAGGACTGTTCCATGACCTTGCAGTCATCTGAACTCTTCTAGATTAACCAGAGACCCTCCCGCTCTCAACTCCCTGGCTCTTAATTCCCTTATGATATTCCTTTGACTCTAGACTTTCTTTTATGACTTCTAAATGACCTCCAGGACACTATGACTGCCCGGTGACCTTTGGTCTCCCCAGAACTTTCCATTGATCCCAGGACTGCTTCCATGTCCCCCACTGACCACAGACTGTCCCCCATAACCTCCCCTCAATGATCCCCATTGTCCTTCCTTACCCAGGGTGCGGTTCCTCCTTGGTGGCCGCCATGGTGAATTCAAGTTCCTGCCCCCACCTGGCTATGCTCCATGCCATGAGGCTGTGCTCCATGCCATGAGGCTGTGCTCCCTCGAGAGCGACTCCATCTTGAACCCATCAAGGAGTATCGACGGGAGGGGCCCCGGGGGCCTCACCTGGTGGGCCCCAGTCGCTGCCTCTCACACACCGACTTCGTGCCCTGCCCTGTGGACACTGTCCAGGTACTGCCTGCCCTGCAAAGGTTTTCTGGCGAGGCAGGGTCTCTTAGGAGTCAGAGAGGGGGCAGGGTGCCATCGTTCATGCCTGTAATCCCAGCACTTTGGATGGCCAGGCGTGGTGGCTCACGCCTGTAAGCCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAAGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCTGGGTGTGGTGGCGGGCGCCTATAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGGTCACGCCATTGTACTCCAGCCTAAGCAACAAGAGTGAAACTCCATGTCAAAACAAAACAAAACAAAAAACAAAAATTAGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCGTGCCACTACACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAACAAACAAACAAACAAAAACAACCAACATTTTGGGAAGCCGAAGTGGGGGCCTCGCGCTTGAGCCCGAAAGTTCGAGATTAGTATGGGTAACATAGTGATACCCCGTCTTTATAGAAAAAAATTTTTAATATTTACAAATTTAGACAATTTTTTAAAAGGAGTGAGAGAGGTGGGGAGCTGCCCTAGAAGCTGGGAACCTCGTTGTTTAACAGATGGAGAAACTGAGCACAGAGAGGCAAAGGATTCTGTCAGAGCAGAATCGCAGTCTCAGGGAGTCCTCACCACTGCCCCACAAAGAAAGGGTGGCTCACACCTGCGATCCTAGAACTCTGAGAGGCCGAGGCAGGATTGCTTGAGTCCACGAGTTTGAGACCAGCCTAGGCAACATAGCAAGACCCCATCTCTACTAAAAATTAAAAGTTAGCTGAGGTGATGGTCCACGACTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGGTCACTTGAGCCCAGGGATTCGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGAAAAAAAAAAAAAAAAAAAGAAAGGGAGAGAGAGAGAGAAAGAAAGAAAAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTAAAGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAATGAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAGAAGAAAGAAAGAAAGGACTGTTTTTGCCTTCCCTCCAAGCATGTCCCTATAGGAGGGAATATAGGTTAGGTTTAAAAGCCTGACAGCAAAGGTTTGGTTTTCAGTCACGTGATCTTGGGCATGTGACCTCCCCTCCCTGAGCCTCAGTTTGTTCCTCCGTGAGGAAAAGGGGATAACACCCTGATATCTGATAGCATTGTTCATTGTTGTGAAGGTAAGATGAATGGATATAGGCAAGATGCTTAGTCCAGTCCTGATTAAACAGTAAGCACTCAAGACAGTCACTCATTATTAGTAGCAGTGATATCATCTGCGGGGGTGACTTCATCCCCCTGTCCCCAGACCAGTGCCCTGGGCCTCACCCTGGATGCCTCTGTCCCCATCCCCCAGCCTGTCAGCCTC
|
pathogenic
| 303,338 |
A genetic variant on chromosome 19, position 38460513, affects the gene RYR1 (ryanodine receptor 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Arthrogryposis_multiplex_congenita', 'Centronuclear_myopathy', 'Fetal_akinesia_deformation_sequence_1']
|
CTCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCCTGACCTCAAGTGATCCATCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCGGCCCCCAGGAGGATTTAATCTCTGGCCCCACAGCTCAGAATCCTAACTTCAGGGGAACCCTGACCTCTGCCCTTCATTTCAGAGCTACGGGAGCATCCAAGGGAGCACTTTCCATTAGGGTTTCCAGGATGCAATCTCCACAGGAGCCTCCAATATCTGTCCCTTTTCTCTTGTTATCATTGGTTCTGTGGGACCTGTGACGTCTGACCCATCTCTGGTGACTGATGCAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAAGACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAAGTGAGAACTTGCCCCCACCCCACGGCCAGTCCTCAGACCTAGGACTGACCTGAGACAGCTTCCCCAGTCACTCCATGGTCCCCCAGGAGGCCAGGACACTGCAGCCTACCATCAAGACTGACTGGTGTCCAGAACCCTTACTTGAAGATCCCAGGGACCTCCACGTGACTCCAGACTCTTTCCAATGACCTCAGATTCTCCCTAACCCCACGTCCTTCCAGTAACCTCTGAGATAATGGTCTCAGACTCTCCTAGTGGTCTCTCAACAACCCAAGGTTCTTCCGGTGACCTCCCAATGACCTCAGACTTTCCCAGTGACTCCAGAATCTGATGATCTCATGACTCCAGACCTTCCTTGACTCCCCAGTGGCCTCAGACTCTCCCAATGACTCCAGAATCTGATAATGATCTAATGACTCCAGACCCTCCTTAACCCCCTAATGACTTCAGACTCTTCCAATGACACCATACTCTCTCAATAATCTCTTAATAATGCCAGCATCTCCCGATGACCTTTCAATAGACCCAGACTTGCCCAGTGACCCTGCTCCCGAATAACCCCATTTATTCCAAAGACCCCCCAATGATCCAGTCCTTTCCCAATCACCCCAAGCTCTCCGAATGTCCATTCAGTGGTGTTTATGTTTATTTCATAATTGTAACAGATGCTCAGTGACTTCTCAAATGACCTTCTTATTGGTCTCCCCAACCTTCCAATGACCCCGAATGCTCTGTTGACCTGGGGTCTCCTCTGAAGGACTGTTCCATGACCTTGCAGTCATCTGAACTCTTCTAGATTAACCAGAGACCCTCCCGCTCTCAACTCCCTGGCTCTTAATTCCCTTATGATATTCCTTTGACTCTAGACTTTCTTTTATGACTTCTAAATGACCTCCAGGACACTATGACTGCCCGGTGACCTTTGGTCTCCCCAGAACTTTCCATTGATCCCAGGACTGCTTCCATGTCCCCCACTGACCACAGACTGTCCCCCATAACCTCCCCTCAATGATCCCCATTGTCCTTCCTTACCCAGGGTGCGGTTCCTCCTTGGTGGCCGCCATGGTGAATTCAAGTTCCTGCCCCCACCTGGCTATGCTCCATGCCATGAGGCTGTGCTCCCTCGAGAGCGACTCCATCTTGAACCCATCAAGGAGTATCGACGGGAGGGGCCCCGGGGGCCTCACCTGGTGGGCCCCAGTCGCTGCCTCTCACACACCGACTTCGTGCCCTGCCCTGTGGACACTGTCCAGGTACTGCCTGCCCTGCAAAGGTTTTCTGGCGAGGCAGGGTCTCTTAGGAGTCAGAGAGGGGGCAGGGTGCCATCGTTCATGCCTGTAATCCCAGCACTTTGGATGGCCAGGCGTGGTGGCTCACGCCTGTAAGCCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAAGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCTGGGTGTGGTGGCGGGCGCCTATAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGGTCACGCCATTGTACTCCAGCCTAAGCAACAAGAGTGAAACTCCATGTCAAAACAAAACAAAACAAAAAACAAAAATTAGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCGTGCCACTACACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAACAAACAAACAAACAAAAACAACCAACATTTTGGGAAGCCGAAGTGGGGGCCTCGCGCTTGAGCCCGAAAGTTCGAGATTAGTATGGGTAACATAGTGATACCCCGTCTTTATAGAAAAAAATTTTTAATATTTACAAATTTAGACAATTTTTTAAAAGGAGTGAGAGAGGTGGGGAGCTGCCCTAGAAGCTGGGAACCTCGTTGTTTAACAGATGGAGAAACTGAGCACAGAGAGGCAAAGGATTCTGTCAGAGCAGAATCGCAGTCTCAGGGAGTCCTCACCACTGCCCCACAAAGAAAGGGTGGCTCACACCTGCGATCCTAGAACTCTGAGAGGCCGAGGCAGGATTGCTTGAGTCCACGAGTTTGAGACCAGCCTAGGCAACATAGCAAGACCCCATCTCTACTAAAAATTAAAAGTTAGCTGAGGTGATGGTCCACGACTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGGTCACTTGAGCCCAGGGATTCGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGAAAAAAAAAAAAAAAAAAAGAAAGGGAGAGAGAGAGAGAAAGAAAGAAAAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTAAAGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAATGAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAGAAGAAAGAAAGAAAGGACTGTTTTTGCCTTCCCTCCAAGCATGTCCCTATAGGAGGGAATATAGGTTAGGTTTAAAAGCCTGACAGCAAAGGTTTGGTTTTCAGTCACGTGATCTTGGGCATGTGACCTCCCCTCCCTGAGCCTCAGTTTGTTCCTCCGTGAGGAAAAGGGGATAACACCCTGATATCTGATAGCATTGTTCATTGTTGTGAAGGTAAGATGAATGGATATAGGCAAGATGCTTAGTCCAGTCCTGATTAAACAGTAAGCACTCAAGACAGTCACTCATTATTAGTAGCAGTGATATCATCTGCGGGGGTGACTTCATCCCCCTGTCCCCAGACCAGTGCCCTGGGCCTCACCCTGGATGCCTCTGTCCCCATCCCCCAGCCTGTCAGCCTCGTGGGCTGTCCACTCGGCCTCCCAGACATCCCCCCGACCCCGCTTTCCTCATCCCCATGTCCCGCCCAAGTCCAAACCATCATTGCCTCTTGCCTGCGG
|
CTCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCCTGACCTCAAGTGATCCATCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCGGCCCCCAGGAGGATTTAATCTCTGGCCCCACAGCTCAGAATCCTAACTTCAGGGGAACCCTGACCTCTGCCCTTCATTTCAGAGCTACGGGAGCATCCAAGGGAGCACTTTCCATTAGGGTTTCCAGGATGCAATCTCCACAGGAGCCTCCAATATCTGTCCCTTTTCTCTTGTTATCATTGGTTCTGTGGGACCTGTGACGTCTGACCCATCTCTGGTGACTGATGCAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAAGACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAAGTGAGAACTTGCCCCCACCCCACGGCCAGTCCTCAGACCTAGGACTGACCTGAGACAGCTTCCCCAGTCACTCCATGGTCCCCCAGGAGGCCAGGACACTGCAGCCTACCATCAAGACTGACTGGTGTCCAGAACCCTTACTTGAAGATCCCAGGGACCTCCACGTGACTCCAGACTCTTTCCAATGACCTCAGATTCTCCCTAACCCCACGTCCTTCCAGTAACCTCTGAGATAATGGTCTCAGACTCTCCTAGTGGTCTCTCAACAACCCAAGGTTCTTCCGGTGACCTCCCAATGACCTCAGACTTTCCCAGTGACTCCAGAATCTGATGATCTCATGACTCCAGACCTTCCTTGACTCCCCAGTGGCCTCAGACTCTCCCAATGACTCCAGAATCTGATAATGATCTAATGACTCCAGACCCTCCTTAACCCCCTAATGACTTCAGACTCTTCCAATGACACCATACTCTCTCAATAATCTCTTAATAATGCCAGCATCTCCCGATGACCTTTCAATAGACCCAGACTTGCCCAGTGACCCTGCTCCCGAATAACCCCATTTATTCCAAAGACCCCCCAATGATCCAGTCCTTTCCCAATCACCCCAAGCTCTCCGAATGTCCATTCAGTGGTGTTTATGTTTATTTCATAATTGTAACAGATGCTCAGTGACTTCTCAAATGACCTTCTTATTGGTCTCCCCAACCTTCCAATGACCCCGAATGCTCTGTTGACCTGGGGTCTCCTCTGAAGGACTGTTCCATGACCTTGCAGTCATCTGAACTCTTCTAGATTAACCAGAGACCCTCCCGCTCTCAACTCCCTGGCTCTTAATTCCCTTATGATATTCCTTTGACTCTAGACTTTCTTTTATGACTTCTAAATGACCTCCAGGACACTATGACTGCCCGGTGACCTTTGGTCTCCCCAGAACTTTCCATTGATCCCAGGACTGCTTCCATGTCCCCCACTGACCACAGACTGTCCCCCATAACCTCCCCTCAATGATCCCCATTGTCCTTCCTTACCCAGGGTGCGGTTCCTCCTTGGTGGCCGCCATGGTGAATTCAAGTTCCTGCCCCCACCTGGCTATGCTCCATGCCATGAGGCTGTGCTCCCTCGAGAGCGACTCCATCTTGAACCCATCAAGGAGTATCGACGGGAGGGGCCCCGCGGGGGCCTCACCTGGTGGGCCCCAGTCGCTGCCTCTCACACACCGACTTCGTGCCCTGCCCTGTGGACACTGTCCAGGTACTGCCTGCCCTGCAAAGGTTTTCTGGCGAGGCAGGGTCTCTTAGGAGTCAGAGAGGGGGCAGGGTGCCATCGTTCATGCCTGTAATCCCAGCACTTTGGATGGCCAGGCGTGGTGGCTCACGCCTGTAAGCCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAAGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCTGGGTGTGGTGGCGGGCGCCTATAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGGTCACGCCATTGTACTCCAGCCTAAGCAACAAGAGTGAAACTCCATGTCAAAACAAAACAAAACAAAAAACAAAAATTAGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCGTGCCACTACACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAACAAACAAACAAACAAAAACAACCAACATTTTGGGAAGCCGAAGTGGGGGCCTCGCGCTTGAGCCCGAAAGTTCGAGATTAGTATGGGTAACATAGTGATACCCCGTCTTTATAGAAAAAAATTTTTAATATTTACAAATTTAGACAATTTTTTAAAAGGAGTGAGAGAGGTGGGGAGCTGCCCTAGAAGCTGGGAACCTCGTTGTTTAACAGATGGAGAAACTGAGCACAGAGAGGCAAAGGATTCTGTCAGAGCAGAATCGCAGTCTCAGGGAGTCCTCACCACTGCCCCACAAAGAAAGGGTGGCTCACACCTGCGATCCTAGAACTCTGAGAGGCCGAGGCAGGATTGCTTGAGTCCACGAGTTTGAGACCAGCCTAGGCAACATAGCAAGACCCCATCTCTACTAAAAATTAAAAGTTAGCTGAGGTGATGGTCCACGACTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGGTCACTTGAGCCCAGGGATTCGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGAAAAAAAAAAAAAAAAAAAGAAAGGGAGAGAGAGAGAGAAAGAAAGAAAAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTAAAGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAATGAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAGAAGAAAGAAAGAAAGGACTGTTTTTGCCTTCCCTCCAAGCATGTCCCTATAGGAGGGAATATAGGTTAGGTTTAAAAGCCTGACAGCAAAGGTTTGGTTTTCAGTCACGTGATCTTGGGCATGTGACCTCCCCTCCCTGAGCCTCAGTTTGTTCCTCCGTGAGGAAAAGGGGATAACACCCTGATATCTGATAGCATTGTTCATTGTTGTGAAGGTAAGATGAATGGATATAGGCAAGATGCTTAGTCCAGTCCTGATTAAACAGTAAGCACTCAAGACAGTCACTCATTATTAGTAGCAGTGATATCATCTGCGGGGGTGACTTCATCCCCCTGTCCCCAGACCAGTGCCCTGGGCCTCACCCTGGATGCCTCTGTCCCCATCCCCCAGCCTGTCAGCCTCGTGGGCTGTCCACTCGGCCTCCCAGACATCCCCCCGACCCCGCTTTCCTCATCCCCATGTCCCGCCCAAGTCCAAACCATCATTGCCTCTTGCCTGC
|
pathogenic
| 303,341 |
A mutation at chromosome position 38460514 on chromosome 19 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Myopathy', 'RYR1-related_disorder']
|
TCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCCTGACCTCAAGTGATCCATCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCGGCCCCCAGGAGGATTTAATCTCTGGCCCCACAGCTCAGAATCCTAACTTCAGGGGAACCCTGACCTCTGCCCTTCATTTCAGAGCTACGGGAGCATCCAAGGGAGCACTTTCCATTAGGGTTTCCAGGATGCAATCTCCACAGGAGCCTCCAATATCTGTCCCTTTTCTCTTGTTATCATTGGTTCTGTGGGACCTGTGACGTCTGACCCATCTCTGGTGACTGATGCAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAAGACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAAGTGAGAACTTGCCCCCACCCCACGGCCAGTCCTCAGACCTAGGACTGACCTGAGACAGCTTCCCCAGTCACTCCATGGTCCCCCAGGAGGCCAGGACACTGCAGCCTACCATCAAGACTGACTGGTGTCCAGAACCCTTACTTGAAGATCCCAGGGACCTCCACGTGACTCCAGACTCTTTCCAATGACCTCAGATTCTCCCTAACCCCACGTCCTTCCAGTAACCTCTGAGATAATGGTCTCAGACTCTCCTAGTGGTCTCTCAACAACCCAAGGTTCTTCCGGTGACCTCCCAATGACCTCAGACTTTCCCAGTGACTCCAGAATCTGATGATCTCATGACTCCAGACCTTCCTTGACTCCCCAGTGGCCTCAGACTCTCCCAATGACTCCAGAATCTGATAATGATCTAATGACTCCAGACCCTCCTTAACCCCCTAATGACTTCAGACTCTTCCAATGACACCATACTCTCTCAATAATCTCTTAATAATGCCAGCATCTCCCGATGACCTTTCAATAGACCCAGACTTGCCCAGTGACCCTGCTCCCGAATAACCCCATTTATTCCAAAGACCCCCCAATGATCCAGTCCTTTCCCAATCACCCCAAGCTCTCCGAATGTCCATTCAGTGGTGTTTATGTTTATTTCATAATTGTAACAGATGCTCAGTGACTTCTCAAATGACCTTCTTATTGGTCTCCCCAACCTTCCAATGACCCCGAATGCTCTGTTGACCTGGGGTCTCCTCTGAAGGACTGTTCCATGACCTTGCAGTCATCTGAACTCTTCTAGATTAACCAGAGACCCTCCCGCTCTCAACTCCCTGGCTCTTAATTCCCTTATGATATTCCTTTGACTCTAGACTTTCTTTTATGACTTCTAAATGACCTCCAGGACACTATGACTGCCCGGTGACCTTTGGTCTCCCCAGAACTTTCCATTGATCCCAGGACTGCTTCCATGTCCCCCACTGACCACAGACTGTCCCCCATAACCTCCCCTCAATGATCCCCATTGTCCTTCCTTACCCAGGGTGCGGTTCCTCCTTGGTGGCCGCCATGGTGAATTCAAGTTCCTGCCCCCACCTGGCTATGCTCCATGCCATGAGGCTGTGCTCCCTCGAGAGCGACTCCATCTTGAACCCATCAAGGAGTATCGACGGGAGGGGCCCCGGGGGCCTCACCTGGTGGGCCCCAGTCGCTGCCTCTCACACACCGACTTCGTGCCCTGCCCTGTGGACACTGTCCAGGTACTGCCTGCCCTGCAAAGGTTTTCTGGCGAGGCAGGGTCTCTTAGGAGTCAGAGAGGGGGCAGGGTGCCATCGTTCATGCCTGTAATCCCAGCACTTTGGATGGCCAGGCGTGGTGGCTCACGCCTGTAAGCCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAAGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCTGGGTGTGGTGGCGGGCGCCTATAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGGTCACGCCATTGTACTCCAGCCTAAGCAACAAGAGTGAAACTCCATGTCAAAACAAAACAAAACAAAAAACAAAAATTAGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCGTGCCACTACACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAACAAACAAACAAACAAAAACAACCAACATTTTGGGAAGCCGAAGTGGGGGCCTCGCGCTTGAGCCCGAAAGTTCGAGATTAGTATGGGTAACATAGTGATACCCCGTCTTTATAGAAAAAAATTTTTAATATTTACAAATTTAGACAATTTTTTAAAAGGAGTGAGAGAGGTGGGGAGCTGCCCTAGAAGCTGGGAACCTCGTTGTTTAACAGATGGAGAAACTGAGCACAGAGAGGCAAAGGATTCTGTCAGAGCAGAATCGCAGTCTCAGGGAGTCCTCACCACTGCCCCACAAAGAAAGGGTGGCTCACACCTGCGATCCTAGAACTCTGAGAGGCCGAGGCAGGATTGCTTGAGTCCACGAGTTTGAGACCAGCCTAGGCAACATAGCAAGACCCCATCTCTACTAAAAATTAAAAGTTAGCTGAGGTGATGGTCCACGACTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGGTCACTTGAGCCCAGGGATTCGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGAAAAAAAAAAAAAAAAAAAGAAAGGGAGAGAGAGAGAGAAAGAAAGAAAAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTAAAGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAATGAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAGAAGAAAGAAAGAAAGGACTGTTTTTGCCTTCCCTCCAAGCATGTCCCTATAGGAGGGAATATAGGTTAGGTTTAAAAGCCTGACAGCAAAGGTTTGGTTTTCAGTCACGTGATCTTGGGCATGTGACCTCCCCTCCCTGAGCCTCAGTTTGTTCCTCCGTGAGGAAAAGGGGATAACACCCTGATATCTGATAGCATTGTTCATTGTTGTGAAGGTAAGATGAATGGATATAGGCAAGATGCTTAGTCCAGTCCTGATTAAACAGTAAGCACTCAAGACAGTCACTCATTATTAGTAGCAGTGATATCATCTGCGGGGGTGACTTCATCCCCCTGTCCCCAGACCAGTGCCCTGGGCCTCACCCTGGATGCCTCTGTCCCCATCCCCCAGCCTGTCAGCCTCGTGGGCTGTCCACTCGGCCTCCCAGACATCCCCCCGACCCCGCTTTCCTCATCCCCATGTCCCGCCCAAGTCCAAACCATCATTGCCTCTTGCCTGCGGA
|
TCTGACTTGTATCCTCGTTACCTACAGAACTCTGATCCCAGAGTAGGTGTGACCTCTGACCCTAGATATCCCAGAAGACCACGCAGATTACTGTGATCTCTGATCTTTGACTTCTAACCCCAGGAGAATTTATTTATTTATTTATTTTGTTTGTTTGTTTGTTTGTTTGTTTATTTTGAAATGGAGTCTCACTCTGTCTCCTAGGCTGGAGTGCAGTAGCATGATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCCTGACCTCAAGTGATCCATCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCGGCCCCCAGGAGGATTTAATCTCTGGCCCCACAGCTCAGAATCCTAACTTCAGGGGAACCCTGACCTCTGCCCTTCATTTCAGAGCTACGGGAGCATCCAAGGGAGCACTTTCCATTAGGGTTTCCAGGATGCAATCTCCACAGGAGCCTCCAATATCTGTCCCTTTTCTCTTGTTATCATTGGTTCTGTGGGACCTGTGACGTCTGACCCATCTCTGGTGACTGATGCAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAAGACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAAGTGAGAACTTGCCCCCACCCCACGGCCAGTCCTCAGACCTAGGACTGACCTGAGACAGCTTCCCCAGTCACTCCATGGTCCCCCAGGAGGCCAGGACACTGCAGCCTACCATCAAGACTGACTGGTGTCCAGAACCCTTACTTGAAGATCCCAGGGACCTCCACGTGACTCCAGACTCTTTCCAATGACCTCAGATTCTCCCTAACCCCACGTCCTTCCAGTAACCTCTGAGATAATGGTCTCAGACTCTCCTAGTGGTCTCTCAACAACCCAAGGTTCTTCCGGTGACCTCCCAATGACCTCAGACTTTCCCAGTGACTCCAGAATCTGATGATCTCATGACTCCAGACCTTCCTTGACTCCCCAGTGGCCTCAGACTCTCCCAATGACTCCAGAATCTGATAATGATCTAATGACTCCAGACCCTCCTTAACCCCCTAATGACTTCAGACTCTTCCAATGACACCATACTCTCTCAATAATCTCTTAATAATGCCAGCATCTCCCGATGACCTTTCAATAGACCCAGACTTGCCCAGTGACCCTGCTCCCGAATAACCCCATTTATTCCAAAGACCCCCCAATGATCCAGTCCTTTCCCAATCACCCCAAGCTCTCCGAATGTCCATTCAGTGGTGTTTATGTTTATTTCATAATTGTAACAGATGCTCAGTGACTTCTCAAATGACCTTCTTATTGGTCTCCCCAACCTTCCAATGACCCCGAATGCTCTGTTGACCTGGGGTCTCCTCTGAAGGACTGTTCCATGACCTTGCAGTCATCTGAACTCTTCTAGATTAACCAGAGACCCTCCCGCTCTCAACTCCCTGGCTCTTAATTCCCTTATGATATTCCTTTGACTCTAGACTTTCTTTTATGACTTCTAAATGACCTCCAGGACACTATGACTGCCCGGTGACCTTTGGTCTCCCCAGAACTTTCCATTGATCCCAGGACTGCTTCCATGTCCCCCACTGACCACAGACTGTCCCCCATAACCTCCCCTCAATGATCCCCATTGTCCTTCCTTACCCAGGGTGCGGTTCCTCCTTGGTGGCCGCCATGGTGAATTCAAGTTCCTGCCCCCACCTGGCTATGCTCCATGCCATGAGGCTGTGCTCCCTCGAGAGCGACTCCATCTTGAACCCATCAAGGAGTATCGACGGGAGGGGCCCCGGGGCCTCACCTGGTGGGCCCCAGTCGCTGCCTCTCACACACCGACTTCGTGCCCTGCCCTGTGGACACTGTCCAGGTACTGCCTGCCCTGCAAAGGTTTTCTGGCGAGGCAGGGTCTCTTAGGAGTCAGAGAGGGGGCAGGGTGCCATCGTTCATGCCTGTAATCCCAGCACTTTGGATGGCCAGGCGTGGTGGCTCACGCCTGTAAGCCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAAGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCTGGGTGTGGTGGCGGGCGCCTATAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGGTCACGCCATTGTACTCCAGCCTAAGCAACAAGAGTGAAACTCCATGTCAAAACAAAACAAAACAAAAAACAAAAATTAGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCGTGCCACTACACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAACAAACAAACAAACAAAAACAACCAACATTTTGGGAAGCCGAAGTGGGGGCCTCGCGCTTGAGCCCGAAAGTTCGAGATTAGTATGGGTAACATAGTGATACCCCGTCTTTATAGAAAAAAATTTTTAATATTTACAAATTTAGACAATTTTTTAAAAGGAGTGAGAGAGGTGGGGAGCTGCCCTAGAAGCTGGGAACCTCGTTGTTTAACAGATGGAGAAACTGAGCACAGAGAGGCAAAGGATTCTGTCAGAGCAGAATCGCAGTCTCAGGGAGTCCTCACCACTGCCCCACAAAGAAAGGGTGGCTCACACCTGCGATCCTAGAACTCTGAGAGGCCGAGGCAGGATTGCTTGAGTCCACGAGTTTGAGACCAGCCTAGGCAACATAGCAAGACCCCATCTCTACTAAAAATTAAAAGTTAGCTGAGGTGATGGTCCACGACTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGGTCACTTGAGCCCAGGGATTCGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGAAAAAAAAAAAAAAAAAAAGAAAGGGAGAGAGAGAGAGAAAGAAAGAAAAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTAAAGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAATGAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAGAAGAAAGAAAGAAAGGACTGTTTTTGCCTTCCCTCCAAGCATGTCCCTATAGGAGGGAATATAGGTTAGGTTTAAAAGCCTGACAGCAAAGGTTTGGTTTTCAGTCACGTGATCTTGGGCATGTGACCTCCCCTCCCTGAGCCTCAGTTTGTTCCTCCGTGAGGAAAAGGGGATAACACCCTGATATCTGATAGCATTGTTCATTGTTGTGAAGGTAAGATGAATGGATATAGGCAAGATGCTTAGTCCAGTCCTGATTAAACAGTAAGCACTCAAGACAGTCACTCATTATTAGTAGCAGTGATATCATCTGCGGGGGTGACTTCATCCCCCTGTCCCCAGACCAGTGCCCTGGGCCTCACCCTGGATGCCTCTGTCCCCATCCCCCAGCCTGTCAGCCTCGTGGGCTGTCCACTCGGCCTCCCAGACATCCCCCCGACCCCGCTTTCCTCATCCCCATGTCCCGCCCAAGTCCAAACCATCATTGCCTCTTGCCTGCGGAN
|
pathogenic
| 303,342 |
Is the genetic variant on chromosome 19, position 38463408, gene RYR1 (ryanodine receptor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
TGTTTAACAGATGGAGAAACTGAGCACAGAGAGGCAAAGGATTCTGTCAGAGCAGAATCGCAGTCTCAGGGAGTCCTCACCACTGCCCCACAAAGAAAGGGTGGCTCACACCTGCGATCCTAGAACTCTGAGAGGCCGAGGCAGGATTGCTTGAGTCCACGAGTTTGAGACCAGCCTAGGCAACATAGCAAGACCCCATCTCTACTAAAAATTAAAAGTTAGCTGAGGTGATGGTCCACGACTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGGTCACTTGAGCCCAGGGATTCGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGAAAAAAAAAAAAAAAAAAAGAAAGGGAGAGAGAGAGAGAAAGAAAGAAAAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTAAAGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAATGAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAGAAGAAAGAAAGAAAGGACTGTTTTTGCCTTCCCTCCAAGCATGTCCCTATAGGAGGGAATATAGGTTAGGTTTAAAAGCCTGACAGCAAAGGTTTGGTTTTCAGTCACGTGATCTTGGGCATGTGACCTCCCCTCCCTGAGCCTCAGTTTGTTCCTCCGTGAGGAAAAGGGGATAACACCCTGATATCTGATAGCATTGTTCATTGTTGTGAAGGTAAGATGAATGGATATAGGCAAGATGCTTAGTCCAGTCCTGATTAAACAGTAAGCACTCAAGACAGTCACTCATTATTAGTAGCAGTGATATCATCTGCGGGGGTGACTTCATCCCCCTGTCCCCAGACCAGTGCCCTGGGCCTCACCCTGGATGCCTCTGTCCCCATCCCCCAGCCTGTCAGCCTCGTGGGCTGTCCACTCGGCCTCCCAGACATCCCCCCGACCCCGCTTTCCTCATCCCCATGTCCCGCCCAAGTCCAAACCATCATTGCCTCTTGCCTGCGGAACGCCAACACCGCTACTGTCTACTAGGCTCTTACCCTCTGCCAGGCATCGATATTAACTATGTAACATTTAGTAATTTACATTAATGATCTCACTGAGTCCTTATTAGGTATCGCTATGATCCTCATACGGAGAAGGAAGGAGACTCCTCCATTCTTTTCATTCAGCAAACATTTCCTGAGCCTCTCTTCTGGGTCTGAGTCTGGTTCTGGGCTGGATAGGGCTGGGGACTTGGTGGAGACCAGGGCAGCCCCAGGCCCTGCCCTCATGGAGCTCCCAGTCCACGGGGGAGACAGACCCGTCCCAGATAATTCCTTAATACTCTCTCTTCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCAGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAACTGGGACTACAGGTGCGCACCACCACATCTGGCTAATTTTTTGTATTTTTAGAAGAGAAGGTGTTTCACCGTGTTGCCTAGGCTGGTCTTGAACTCCTGACCTCAGGCGATCTGCCCCCCCCCCCCCCACTTAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTACGGCTGGCCCTGGATAATTCCTTAATTCTGAGAATGCTAAGCCCTCACCCATCTGAGTGTCAACCCTGGAGTCAAGGCGAGGGATGGGGAGCAGGGCTGCTGGATGGTGGGAAAGGGGGTGCTGGAGGAGCCTCCCAGGGCTCACAGGTGTTCTTGGAAAGAGGGGTCATGATGGAGGAGGGTAGAGGGACCTTGGGGTCTCAAGAACGTCCCTCTGCCTCTAGATTGTCCTGCCGCCCCATCTGGAGCGCATTCGGGAGAAGCTGGCGGAGAACATCCACGAGCTCTGGGCGCTAACCCGCATCGAGCAGGGCTGGACCTACGGCCCGGTGAGGGGCTGCCTGCAGCCTGCGGGAGGCCGGCTAGACTTGCGGTGCCAGGAGGGAGAGCGGCTCACCGGCGGAGAGGAGGGAGGGACCACAGGGCACCAGGGGGTCCTTGGACTGAGGGTGGCAGAACTAGGGTTGGAGGTCAGGGGTCATAGTCTGGGCATGTGGGGAGTGGGAAGGAAAGGGGAGCACATGGAGTTGACCCTGGGTTTTCTCCAGGTTCGGGATGACAACAAGAGGCTGCACCCGTGTCTTGTGGACTTCCACAGCCTTCCAGAGCCTGAGAGGAACTACAACCTGCAGATGTCTGGGGAGACGCTCAAGTGAGGGCCCAGGGGAGCCGGGGGTTGGGGCTGGCTGCTGGTGCGGTGGGGGAGGGAGGCATGGAGAGACAGGGCAGGAGGTAGAGACTGAGAGAGAGAAGGATGGAGGGGACAGGGATTGTGAGACATAAACAAATGGGGAGTGGCCGGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGTGGATCACTTGAGGTCAGCAGTTCGAGACCAGTCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCGGGCGTGGTGGTGCACCTCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGCAGAGGTTGCAGCGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCGACAGAGCGAGACACCGTTTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAACGGGGAGCAAGAAAGGGACAGAGGCAGAAAGAGAGAGAAAGAAAAGGTGGGGATGGAAAGAGAGAGAGATGCAGAAAGAGACAGGGAGACAGGAGAAAGTGGCAGACAGGAAAAGACAGACATAGTTAGTTATACAGACAAGGCGCAGGGAAAGACAGAAGTCATGAAGCCTGAGGCCAGGATCAAGAGAGACAGGGCCAGAGCGCCCCAGGCACTGAAGCAGCAGAGGTAGAGGGAGCTGGAGACCCTGAGGCCGTGGGAGGAGACGGGGCAGGGAGCTCTGAGGGGCGTGACCTGTCGCCTCCACTCCCCCACCCCCAGGACTCTGCTGGCTCTGGGCTGCCACGTGGGCATGGCGGATGAGAAGGCGGAGGACAACCTGAAGAAGACAAAACTCCCCAAGACGTGAGTGTGGGCAGCCAGGTCCCGTCTGGGGATGGACTGGGGGCTGGGGATGCTGTGCTAAGGGCTGGGGAGGTCGAGGGGTCTTGTGGGGAGGCTGAGGTTAGGGAGGAAGGAGACTTGGGTTAGGGTGAAGGTCATAGGGTCAGGGCTCTGGGGTCAGAGGTGAATGTCCAGGATTGAGGAGTTAGGAGTTTCAGAGAGAGAGAGAGGGAGGGTATGAGTCCAGGATCCAGGCTCAGGGTCTGCCTAGAGTCAGGGAAAATGAGAGCAGAGGTCACATGTCCACGTAAGGGGTAAGGGGCCAATGGTAAGAGGTGAGAATCTGGAGGTCGTTGGAGTCGTCTAAGTAAGGGATCCTGAAATTATAGGTGAGCAGTTACACGTCCTGAGTTCAGAGGTCAAGGACTCCAGACCCAGGAGTTTGGGGTGGATGAGGACTGGGATCAGAGTAAGAAACCTCAGAGTGGGCTGGGTGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGAAGATCACTTGAGCCCAGTTCAAGACCAGCCTGGGCAACATGGTGAGACCCCTCTACAAAAAATTTAAAAATTAGCAGGACATGGTGGTGGGACATGCCTGTAGTTCCAGCAACTTGGGAGGTTGAGATGGGAGAATTGCTTGAACCCAGGAGTTTGAGGCTGCAGTGAGCCATGATTGCACCACCGCACTCCAGCCTGGGTGACAGAACG
|
TGTTTAACAGATGGAGAAACTGAGCACAGAGAGGCAAAGGATTCTGTCAGAGCAGAATCGCAGTCTCAGGGAGTCCTCACCACTGCCCCACAAAGAAAGGGTGGCTCACACCTGCGATCCTAGAACTCTGAGAGGCCGAGGCAGGATTGCTTGAGTCCACGAGTTTGAGACCAGCCTAGGCAACATAGCAAGACCCCATCTCTACTAAAAATTAAAAGTTAGCTGAGGTGATGGTCCACGACTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGGTCACTTGAGCCCAGGGATTCGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGAAAAAAAAAAAAAAAAAAAGAAAGGGAGAGAGAGAGAGAAAGAAAGAAAAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTAAAGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAATGAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAGAAGAAAGAAAGAAAGGACTGTTTTTGCCTTCCCTCCAAGCATGTCCCTATAGGAGGGAATATAGGTTAGGTTTAAAAGCCTGACAGCAAAGGTTTGGTTTTCAGTCACGTGATCTTGGGCATGTGACCTCCCCTCCCTGAGCCTCAGTTTGTTCCTCCGTGAGGAAAAGGGGATAACACCCTGATATCTGATAGCATTGTTCATTGTTGTGAAGGTAAGATGAATGGATATAGGCAAGATGCTTAGTCCAGTCCTGATTAAACAGTAAGCACTCAAGACAGTCACTCATTATTAGTAGCAGTGATATCATCTGCGGGGGTGACTTCATCCCCCTGTCCCCAGACCAGTGCCCTGGGCCTCACCCTGGATGCCTCTGTCCCCATCCCCCAGCCTGTCAGCCTCGTGGGCTGTCCACTCGGCCTCCCAGACATCCCCCCGACCCCGCTTTCCTCATCCCCATGTCCCGCCCAAGTCCAAACCATCATTGCCTCTTGCCTGCGGAACGCCAACACCGCTACTGTCTACTAGGCTCTTACCCTCTGCCAGGCATCGATATTAACTATGTAACATTTAGTAATTTACATTAATGATCTCACTGAGTCCTTATTAGGTATCGCTATGATCCTCATACGGAGAAGGAAGGAGACTCCTCCATTCTTTTCATTCAGCAAACATTTCCTGAGCCTCTCTTCTGGGTCTGAGTCTGGTTCTGGGCTGGATAGGGCTGGGGACTTGGTGGAGACCAGGGCAGCCCCAGGCCCTGCCCTCATGGAGCTCCCAGTCCACGGGGGAGACAGACCCGTCCCAGATAATTCCTTAATACTCTCTCTTCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCAGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAACTGGGACTACAGGTGCGCACCACCACATCTGGCTAATTTTTTGTATTTTTAGAAGAGAAGGTGTTTCACCGTGTTGCCTAGGCTGGTCTTGAACTCCTGACCTCAGGCGATCTGCCCCCCCCCCCCCCACTTAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTACGGCTGGCCCTGGATAATTCCTTAATTCTGAGAATGCTAAGCCCTCACCCATCTGAGTGTCAACCCTGGAGTCAAGGCGAGGGATGGGGAGCAGGGCTGCTGGATGGTGGGAAAGGGGGTGCTGGAGGAGCCTCCCAGGGCTCACAGGTGTTCTTGGAAAGAGGGGTCATGATGGAGGAGGGTAGAGGGACCTTGGGGTCTCAAGAACGTCCCCTCTGCCTCTAGATTGTCCTGCCGCCCCATCTGGAGCGCATTCGGGAGAAGCTGGCGGAGAACATCCACGAGCTCTGGGCGCTAACCCGCATCGAGCAGGGCTGGACCTACGGCCCGGTGAGGGGCTGCCTGCAGCCTGCGGGAGGCCGGCTAGACTTGCGGTGCCAGGAGGGAGAGCGGCTCACCGGCGGAGAGGAGGGAGGGACCACAGGGCACCAGGGGGTCCTTGGACTGAGGGTGGCAGAACTAGGGTTGGAGGTCAGGGGTCATAGTCTGGGCATGTGGGGAGTGGGAAGGAAAGGGGAGCACATGGAGTTGACCCTGGGTTTTCTCCAGGTTCGGGATGACAACAAGAGGCTGCACCCGTGTCTTGTGGACTTCCACAGCCTTCCAGAGCCTGAGAGGAACTACAACCTGCAGATGTCTGGGGAGACGCTCAAGTGAGGGCCCAGGGGAGCCGGGGGTTGGGGCTGGCTGCTGGTGCGGTGGGGGAGGGAGGCATGGAGAGACAGGGCAGGAGGTAGAGACTGAGAGAGAGAAGGATGGAGGGGACAGGGATTGTGAGACATAAACAAATGGGGAGTGGCCGGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGTGGATCACTTGAGGTCAGCAGTTCGAGACCAGTCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCGGGCGTGGTGGTGCACCTCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGCAGAGGTTGCAGCGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCGACAGAGCGAGACACCGTTTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAACGGGGAGCAAGAAAGGGACAGAGGCAGAAAGAGAGAGAAAGAAAAGGTGGGGATGGAAAGAGAGAGAGATGCAGAAAGAGACAGGGAGACAGGAGAAAGTGGCAGACAGGAAAAGACAGACATAGTTAGTTATACAGACAAGGCGCAGGGAAAGACAGAAGTCATGAAGCCTGAGGCCAGGATCAAGAGAGACAGGGCCAGAGCGCCCCAGGCACTGAAGCAGCAGAGGTAGAGGGAGCTGGAGACCCTGAGGCCGTGGGAGGAGACGGGGCAGGGAGCTCTGAGGGGCGTGACCTGTCGCCTCCACTCCCCCACCCCCAGGACTCTGCTGGCTCTGGGCTGCCACGTGGGCATGGCGGATGAGAAGGCGGAGGACAACCTGAAGAAGACAAAACTCCCCAAGACGTGAGTGTGGGCAGCCAGGTCCCGTCTGGGGATGGACTGGGGGCTGGGGATGCTGTGCTAAGGGCTGGGGAGGTCGAGGGGTCTTGTGGGGAGGCTGAGGTTAGGGAGGAAGGAGACTTGGGTTAGGGTGAAGGTCATAGGGTCAGGGCTCTGGGGTCAGAGGTGAATGTCCAGGATTGAGGAGTTAGGAGTTTCAGAGAGAGAGAGAGGGAGGGTATGAGTCCAGGATCCAGGCTCAGGGTCTGCCTAGAGTCAGGGAAAATGAGAGCAGAGGTCACATGTCCACGTAAGGGGTAAGGGGCCAATGGTAAGAGGTGAGAATCTGGAGGTCGTTGGAGTCGTCTAAGTAAGGGATCCTGAAATTATAGGTGAGCAGTTACACGTCCTGAGTTCAGAGGTCAAGGACTCCAGACCCAGGAGTTTGGGGTGGATGAGGACTGGGATCAGAGTAAGAAACCTCAGAGTGGGCTGGGTGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGAAGATCACTTGAGCCCAGTTCAAGACCAGCCTGGGCAACATGGTGAGACCCCTCTACAAAAAATTTAAAAATTAGCAGGACATGGTGGTGGGACATGCCTGTAGTTCCAGCAACTTGGGAGGTTGAGATGGGAGAATTGCTTGAACCCAGGAGTTTGAGGCTGCAGTGAGCCATGATTGCACCACCGCACTCCAGCCTGGGTGACAGAAC
|
benign
| 303,351 |
For chromosome 19, position 38473406, gene RYR1 (ryanodine receptor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['RYR1-related_disorder']
|
GTCTCTACACAGAATAAACAAAATTATCTGGGCATGGTGGTATGTGCCTGTGGTCCCAGCCACTTGGGAGGCTGAAGTGGGAGGATTGTTTGAGCCCAGGATTTCGGGGCTGCAGTGAGCCGTGGTTGCACCACAGCACTCCAGCCCAGGTGACAGAGCAAGACCTGTCTCTAAGAAAAAAAGAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAAAAGTTGCAGTCAGCCAAGATTGCACCATTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGATTCTGAGAACAAAGAATCTTGTATGCACAGTTTTAGGGCAAATTCATTGGCTGGCAAGGAGTACCTAGGTTCATCTTGGCAACTGGTCCTTGGAGAGGTCAACGTGAGGAGGGGCATGAAAGAGAACAACTTTCATTGTTTACCGAGTCTCTAGGAGACTTTTGAGAGTCCATTGTTTTTGGTTTTTGTTTTTTGAGACTGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCAAGATCTCAGCTCCCCACAACCTCTGCCTCCCGAGTTCAAGCGATTCTTTTGCCTCAGTCTCCTTAGTAGCTGGAATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTACAGATGAGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCAGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCTGTCGCTATTTGTGGAATTGTAACTGAACACAGGTTCAGTTGCTCATCAGTTACAGAGTCCAATTAACAAGAGCGAGGTCTGGTAGAAAGAAAATGACTTTATTCATCAAAACTAGTCATGGAGAAGTGACCGGATTCCCATCCGAAGCAACCACTTCAAATCTAGGGGGGAAAGCAAGGGTTTAAAAAGGGGAAACTTGGCTGGGGGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACTGAGGCAGGCGGATCACATGAACTCAGGAGATTGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGCGTGTTGGCTCATGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTTGTCTAAAAAAAAAAAAAAAAAAAAAAGAAGTCTGAGAACAAAGAATCTTGTACGCACAGTTTTTGGGGCAAATTTTCAGGAGACTGAGACACAAGAATCATTTGAACCCTGTAGGCAGAGGTTGCGGTGAGCCGAGATCCTGCTATTGCACTCCAGCCTGGGCCACAGAGCAAGACTGTGTCTCAAAAAAAAAAAAAAAAGCATTGAAGTTGAGCTGCCTGGTTACTGGTTACAGAATGACAGAGTAGATTGTTAGATGGATGTAGGGAGGTTTTGGAAGTTACCCCAAGTGATTCCAGTGTGTGTCCGGGGCTGCTAGTGTACACGACGCCCAGAGAAATGTTGCAGAGGGCTGCAAGCACCCCAGGGCCCAGCGGTGTACCCGGCCGGGAGCTTCATCCCCCTGCAGGAGTGGGGGGCCCTTGACTAATTCCCATGCAGGTGCACTATGGCCTAATGGTGGCTCCGTGTGTGACCAGGTGTAGGACCAACGGCCTGGCCTAGCCCGCCTGCCCAGCCCAGTACTCCATTCCCTGCCACCTCAGGTATCCCGAGTGGACGGCACTGTGGACACGCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCCCAGAACAGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTCCGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGGCACCCCGCAGGCGGGGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACCGAGAAGAACAAGAAGAGAGGGTGAGTCGAGGGGGGCCCAGAGTGGGGATTGGGGGCTGCCTTGGGACCCCCAAGTAGGCAACCACAGTAACCTGAGAAACCCCCATTGTACCCCAAAGTAGACCCATATATGCTAAGTGGAGTAAGAATACCGAGAGATTCTATCATGTCTCCAATGAACCCCATTATTTTCCTGGGATGCCCTAATGTCCCCAAGAATATATAATTGGGTACCCTAGTATCTATATGGAGAACTCTATTATCCTTGAGTACCTGGAGGGCCCCAAAGGGCTTCGCCCAATGGACCTTATCATCCGTGGACACTAAAAGGGACTTCAGTATCTTCCTAGGAGAGTTTACTGCACAGTAAGGTATCCCAGTGAATACCCAGTGGTCTTCTAAATGGGGATCCTTTCTGTGTCACAAATGTACCCCCCGAAATCTAACTTAAAGGGAGATTCTGAGAAGGTACTAAATCTGCTTTTTCCCTACAATGGCAGTGGTTTCCTTTTTTTCTTTCTATCTTTTTTTTTTTGAGGAGGAATCTCTGTCGCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGACATGAGCTACCACGCCCGGCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTTGGCTCTCTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTATCTGGGACTACAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGTACGATGGCAGAGGTTTTCAATGGGATTGAAAACCCATTGTGTCTCTTGGTGGATGTTTGGAAATGATGGAGTCTTTGTGGTCATTACAGTTTGGGAGGGGCTGCTGCTGCTGGGCGGGGGCCCCAGGGTTCCGCCTGCCTTGCAGTGTACAAAACAGTGCCGCACAATGAAGAATTGTCCTTTTCCAAGTGCATTTAGCACCTATACGAGAAATGCATGTGGGAAATGCTGACTTAGGGGGACCCCCATATAACCCAGTGGGGACCTCCATATTCCCAGAAGGCGCCTTTAATTTGGGTAACTCAGCATCCACAAGCGCAGAGCATAGCACTTCTAGAATGGATTAGTCTGGGGTAGGTGGGAATCCAGCCCTCTAGAGGCAAGACCTGGGGTATTAGAAGCAGGGTGTATCCAAGCTGGATGTGGGGGCATGAATATTGCGGTGGGAGGGCTGGGCTTGAAAGCTGGCTCTCATGGCGCCTCTCCTCCCACTACCAGCTTCTTATTCAAGGCCAAGAAGGTCGCCATGATGACCCAGCCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGCAGACAACCGCGATGACCCCGAGATCATCCTCAACACCACCACGGTG
|
GTCTCTACACAGAATAAACAAAATTATCTGGGCATGGTGGTATGTGCCTGTGGTCCCAGCCACTTGGGAGGCTGAAGTGGGAGGATTGTTTGAGCCCAGGATTTCGGGGCTGCAGTGAGCCGTGGTTGCACCACAGCACTCCAGCCCAGGTGACAGAGCAAGACCTGTCTCTAAGAAAAAAAGAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAAAAGTTGCAGTCAGCCAAGATTGCACCATTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGATTCTGAGAACAAAGAATCTTGTATGCACAGTTTTAGGGCAAATTCATTGGCTGGCAAGGAGTACCTAGGTTCATCTTGGCAACTGGTCCTTGGAGAGGTCAACGTGAGGAGGGGCATGAAAGAGAACAACTTTCATTGTTTACCGAGTCTCTAGGAGACTTTTGAGAGTCCATTGTTTTTGGTTTTTGTTTTTTGAGACTGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCAAGATCTCAGCTCCCCACAACCTCTGCCTCCCGAGTTCAAGCGATTCTTTTGCCTCAGTCTCCTTAGTAGCTGGAATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTACAGATGAGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCAGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCTGTCGCTATTTGTGGAATTGTAACTGAACACAGGTTCAGTTGCTCATCAGTTACAGAGTCCAATTAACAAGAGCGAGGTCTGGTAGAAAGAAAATGACTTTATTCATCAAAACTAGTCATGGAGAAGTGACCGGATTCCCATCCGAAGCAACCACTTCAAATCTAGGGGGGAAAGCAAGGGTTTAAAAAGGGGAAACTTGGCTGGGGGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACTGAGGCAGGCGGATCACATGAACTCAGGAGATTGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGCGTGTTGGCTCATGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTTGTCTAAAAAAAAAAAAAAAAAAAAAAGAAGTCTGAGAACAAAGAATCTTGTACGCACAGTTTTTGGGGCAAATTTTCAGGAGACTGAGACACAAGAATCATTTGAACCCTGTAGGCAGAGGTTGCGGTGAGCCGAGATCCTGCTATTGCACTCCAGCCTGGGCCACAGAGCAAGACTGTGTCTCAAAAAAAAAAAAAAAAGCATTGAAGTTGAGCTGCCTGGTTACTGGTTACAGAATGACAGAGTAGATTGTTAGATGGATGTAGGGAGGTTTTGGAAGTTACCCCAAGTGATTCCAGTGTGTGTCCGGGGCTGCTAGTGTACACGACGCCCAGAGAAATGTTGCAGAGGGCTGCAAGCACCCCAGGGCCCAGCGGTGTACCCGGCCGGGAGCTTCATCCCCCTGCAGGAGTGGGGGGCCCTTGACTAATTCCCATGCAGGTGCACTATGGCCTAATGGTGGCTCCGTGTGTGACCAGGTGTAGGACCAACGGCCTGGCCTAGCCCGCCTGCCCAGCCCAGTACTCCATTCCCTGCCACCTCAGGTATCCCGAGTGGACGGCACTGTGGACACGCCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCCCAGAACAGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTCCGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGGCACCCCGCAGGCGGGGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACCGAGAAGAACAAGAAGAGAGGGTGAGTCGAGGGGGGCCCAGAGTGGGGATTGGGGGCTGCCTTGGGACCCCCAAGTAGGCAACCACAGTAACCTGAGAAACCCCCATTGTACCCCAAAGTAGACCCATATATGCTAAGTGGAGTAAGAATACCGAGAGATTCTATCATGTCTCCAATGAACCCCATTATTTTCCTGGGATGCCCTAATGTCCCCAAGAATATATAATTGGGTACCCTAGTATCTATATGGAGAACTCTATTATCCTTGAGTACCTGGAGGGCCCCAAAGGGCTTCGCCCAATGGACCTTATCATCCGTGGACACTAAAAGGGACTTCAGTATCTTCCTAGGAGAGTTTACTGCACAGTAAGGTATCCCAGTGAATACCCAGTGGTCTTCTAAATGGGGATCCTTTCTGTGTCACAAATGTACCCCCCGAAATCTAACTTAAAGGGAGATTCTGAGAAGGTACTAAATCTGCTTTTTCCCTACAATGGCAGTGGTTTCCTTTTTTTCTTTCTATCTTTTTTTTTTTGAGGAGGAATCTCTGTCGCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGACATGAGCTACCACGCCCGGCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTTGGCTCTCTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTATCTGGGACTACAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGTACGATGGCAGAGGTTTTCAATGGGATTGAAAACCCATTGTGTCTCTTGGTGGATGTTTGGAAATGATGGAGTCTTTGTGGTCATTACAGTTTGGGAGGGGCTGCTGCTGCTGGGCGGGGGCCCCAGGGTTCCGCCTGCCTTGCAGTGTACAAAACAGTGCCGCACAATGAAGAATTGTCCTTTTCCAAGTGCATTTAGCACCTATACGAGAAATGCATGTGGGAAATGCTGACTTAGGGGGACCCCCATATAACCCAGTGGGGACCTCCATATTCCCAGAAGGCGCCTTTAATTTGGGTAACTCAGCATCCACAAGCGCAGAGCATAGCACTTCTAGAATGGATTAGTCTGGGGTAGGTGGGAATCCAGCCCTCTAGAGGCAAGACCTGGGGTATTAGAAGCAGGGTGTATCCAAGCTGGATGTGGGGGCATGAATATTGCGGTGGGAGGGCTGGGCTTGAAAGCTGGCTCTCATGGCGCCTCTCCTCCCACTACCAGCTTCTTATTCAAGGCCAAGAAGGTCGCCATGATGACCCAGCCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGCAGACAACCGCGATGACCCCGAGATCATCCTCAACACCACCACGGT
|
pathogenic
| 303,437 |
Clinically, how would you classify the variant at chromosome 19, position 38473573, gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder']
|
TCTCTAAGAAAAAAAGAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAAAAGTTGCAGTCAGCCAAGATTGCACCATTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGATTCTGAGAACAAAGAATCTTGTATGCACAGTTTTAGGGCAAATTCATTGGCTGGCAAGGAGTACCTAGGTTCATCTTGGCAACTGGTCCTTGGAGAGGTCAACGTGAGGAGGGGCATGAAAGAGAACAACTTTCATTGTTTACCGAGTCTCTAGGAGACTTTTGAGAGTCCATTGTTTTTGGTTTTTGTTTTTTGAGACTGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCAAGATCTCAGCTCCCCACAACCTCTGCCTCCCGAGTTCAAGCGATTCTTTTGCCTCAGTCTCCTTAGTAGCTGGAATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTACAGATGAGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCAGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCTGTCGCTATTTGTGGAATTGTAACTGAACACAGGTTCAGTTGCTCATCAGTTACAGAGTCCAATTAACAAGAGCGAGGTCTGGTAGAAAGAAAATGACTTTATTCATCAAAACTAGTCATGGAGAAGTGACCGGATTCCCATCCGAAGCAACCACTTCAAATCTAGGGGGGAAAGCAAGGGTTTAAAAAGGGGAAACTTGGCTGGGGGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACTGAGGCAGGCGGATCACATGAACTCAGGAGATTGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGCGTGTTGGCTCATGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTTGTCTAAAAAAAAAAAAAAAAAAAAAAGAAGTCTGAGAACAAAGAATCTTGTACGCACAGTTTTTGGGGCAAATTTTCAGGAGACTGAGACACAAGAATCATTTGAACCCTGTAGGCAGAGGTTGCGGTGAGCCGAGATCCTGCTATTGCACTCCAGCCTGGGCCACAGAGCAAGACTGTGTCTCAAAAAAAAAAAAAAAAGCATTGAAGTTGAGCTGCCTGGTTACTGGTTACAGAATGACAGAGTAGATTGTTAGATGGATGTAGGGAGGTTTTGGAAGTTACCCCAAGTGATTCCAGTGTGTGTCCGGGGCTGCTAGTGTACACGACGCCCAGAGAAATGTTGCAGAGGGCTGCAAGCACCCCAGGGCCCAGCGGTGTACCCGGCCGGGAGCTTCATCCCCCTGCAGGAGTGGGGGGCCCTTGACTAATTCCCATGCAGGTGCACTATGGCCTAATGGTGGCTCCGTGTGTGACCAGGTGTAGGACCAACGGCCTGGCCTAGCCCGCCTGCCCAGCCCAGTACTCCATTCCCTGCCACCTCAGGTATCCCGAGTGGACGGCACTGTGGACACGCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCCCAGAACAGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTCCGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGGCACCCCGCAGGCGGGGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACCGAGAAGAACAAGAAGAGAGGGTGAGTCGAGGGGGGCCCAGAGTGGGGATTGGGGGCTGCCTTGGGACCCCCAAGTAGGCAACCACAGTAACCTGAGAAACCCCCATTGTACCCCAAAGTAGACCCATATATGCTAAGTGGAGTAAGAATACCGAGAGATTCTATCATGTCTCCAATGAACCCCATTATTTTCCTGGGATGCCCTAATGTCCCCAAGAATATATAATTGGGTACCCTAGTATCTATATGGAGAACTCTATTATCCTTGAGTACCTGGAGGGCCCCAAAGGGCTTCGCCCAATGGACCTTATCATCCGTGGACACTAAAAGGGACTTCAGTATCTTCCTAGGAGAGTTTACTGCACAGTAAGGTATCCCAGTGAATACCCAGTGGTCTTCTAAATGGGGATCCTTTCTGTGTCACAAATGTACCCCCCGAAATCTAACTTAAAGGGAGATTCTGAGAAGGTACTAAATCTGCTTTTTCCCTACAATGGCAGTGGTTTCCTTTTTTTCTTTCTATCTTTTTTTTTTTGAGGAGGAATCTCTGTCGCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGACATGAGCTACCACGCCCGGCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTTGGCTCTCTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTATCTGGGACTACAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGTACGATGGCAGAGGTTTTCAATGGGATTGAAAACCCATTGTGTCTCTTGGTGGATGTTTGGAAATGATGGAGTCTTTGTGGTCATTACAGTTTGGGAGGGGCTGCTGCTGCTGGGCGGGGGCCCCAGGGTTCCGCCTGCCTTGCAGTGTACAAAACAGTGCCGCACAATGAAGAATTGTCCTTTTCCAAGTGCATTTAGCACCTATACGAGAAATGCATGTGGGAAATGCTGACTTAGGGGGACCCCCATATAACCCAGTGGGGACCTCCATATTCCCAGAAGGCGCCTTTAATTTGGGTAACTCAGCATCCACAAGCGCAGAGCATAGCACTTCTAGAATGGATTAGTCTGGGGTAGGTGGGAATCCAGCCCTCTAGAGGCAAGACCTGGGGTATTAGAAGCAGGGTGTATCCAAGCTGGATGTGGGGGCATGAATATTGCGGTGGGAGGGCTGGGCTTGAAAGCTGGCTCTCATGGCGCCTCTCCTCCCACTACCAGCTTCTTATTCAAGGCCAAGAAGGTCGCCATGATGACCCAGCCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGCAGACAACCGCGATGACCCCGAGATCATCCTCAACACCACCACGGTGTGGACCAGTAACCCTCAATTTTGGGGTCCCCCCGCATAGCATAGGCACTCCTGAATTTCCAAGTTTAGTGTGACAGTCCCCAGTAGCTGCCCACCTTACACTGGGGACTCCCCAATATACACTAGAAACTCATAAAATATGGCACACACAGATTTAATCCTTTGAAC
|
TCTCTAAGAAAAAAAGAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAAAAGTTGCAGTCAGCCAAGATTGCACCATTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGATTCTGAGAACAAAGAATCTTGTATGCACAGTTTTAGGGCAAATTCATTGGCTGGCAAGGAGTACCTAGGTTCATCTTGGCAACTGGTCCTTGGAGAGGTCAACGTGAGGAGGGGCATGAAAGAGAACAACTTTCATTGTTTACCGAGTCTCTAGGAGACTTTTGAGAGTCCATTGTTTTTGGTTTTTGTTTTTTGAGACTGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCAAGATCTCAGCTCCCCACAACCTCTGCCTCCCGAGTTCAAGCGATTCTTTTGCCTCAGTCTCCTTAGTAGCTGGAATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTACAGATGAGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCAGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCTGTCGCTATTTGTGGAATTGTAACTGAACACAGGTTCAGTTGCTCATCAGTTACAGAGTCCAATTAACAAGAGCGAGGTCTGGTAGAAAGAAAATGACTTTATTCATCAAAACTAGTCATGGAGAAGTGACCGGATTCCCATCCGAAGCAACCACTTCAAATCTAGGGGGGAAAGCAAGGGTTTAAAAAGGGGAAACTTGGCTGGGGGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACTGAGGCAGGCGGATCACATGAACTCAGGAGATTGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGCGTGTTGGCTCATGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTTGTCTAAAAAAAAAAAAAAAAAAAAAAGAAGTCTGAGAACAAAGAATCTTGTACGCACAGTTTTTGGGGCAAATTTTCAGGAGACTGAGACACAAGAATCATTTGAACCCTGTAGGCAGAGGTTGCGGTGAGCCGAGATCCTGCTATTGCACTCCAGCCTGGGCCACAGAGCAAGACTGTGTCTCAAAAAAAAAAAAAAAAGCATTGAAGTTGAGCTGCCTGGTTACTGGTTACAGAATGACAGAGTAGATTGTTAGATGGATGTAGGGAGGTTTTGGAAGTTACCCCAAGTGATTCCAGTGTGTGTCCGGGGCTGCTAGTGTACACGACGCCCAGAGAAATGTTGCAGAGGGCTGCAAGCACCCCAGGGCCCAGCGGTGTACCCGGCCGGGAGCTTCATCCCCCTGCAGGAGTGGGGGGCCCTTGACTAATTCCCATGCAGGTGCACTATGGCCTAATGGTGGCTCCGTGTGTGACCAGGTGTAGGACCAACGGCCTGGCCTAGCCCGCCTGCCCAGCCCAGTACTCCATTCCCTGCCACCTCAGGTATCCCGAGTGGACGGCACTGTGGACACGCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCCCAGAACAGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTCCGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCGGCCCGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGGCACCCCGCAGGCGGGGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACCGAGAAGAACAAGAAGAGAGGGTGAGTCGAGGGGGGCCCAGAGTGGGGATTGGGGGCTGCCTTGGGACCCCCAAGTAGGCAACCACAGTAACCTGAGAAACCCCCATTGTACCCCAAAGTAGACCCATATATGCTAAGTGGAGTAAGAATACCGAGAGATTCTATCATGTCTCCAATGAACCCCATTATTTTCCTGGGATGCCCTAATGTCCCCAAGAATATATAATTGGGTACCCTAGTATCTATATGGAGAACTCTATTATCCTTGAGTACCTGGAGGGCCCCAAAGGGCTTCGCCCAATGGACCTTATCATCCGTGGACACTAAAAGGGACTTCAGTATCTTCCTAGGAGAGTTTACTGCACAGTAAGGTATCCCAGTGAATACCCAGTGGTCTTCTAAATGGGGATCCTTTCTGTGTCACAAATGTACCCCCCGAAATCTAACTTAAAGGGAGATTCTGAGAAGGTACTAAATCTGCTTTTTCCCTACAATGGCAGTGGTTTCCTTTTTTTCTTTCTATCTTTTTTTTTTTGAGGAGGAATCTCTGTCGCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGACATGAGCTACCACGCCCGGCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTTGGCTCTCTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTATCTGGGACTACAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGTACGATGGCAGAGGTTTTCAATGGGATTGAAAACCCATTGTGTCTCTTGGTGGATGTTTGGAAATGATGGAGTCTTTGTGGTCATTACAGTTTGGGAGGGGCTGCTGCTGCTGGGCGGGGGCCCCAGGGTTCCGCCTGCCTTGCAGTGTACAAAACAGTGCCGCACAATGAAGAATTGTCCTTTTCCAAGTGCATTTAGCACCTATACGAGAAATGCATGTGGGAAATGCTGACTTAGGGGGACCCCCATATAACCCAGTGGGGACCTCCATATTCCCAGAAGGCGCCTTTAATTTGGGTAACTCAGCATCCACAAGCGCAGAGCATAGCACTTCTAGAATGGATTAGTCTGGGGTAGGTGGGAATCCAGCCCTCTAGAGGCAAGACCTGGGGTATTAGAAGCAGGGTGTATCCAAGCTGGATGTGGGGGCATGAATATTGCGGTGGGAGGGCTGGGCTTGAAAGCTGGCTCTCATGGCGCCTCTCCTCCCACTACCAGCTTCTTATTCAAGGCCAAGAAGGTCGCCATGATGACCCAGCCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGCAGACAACCGCGATGACCCCGAGATCATCCTCAACACCACCACGGTGTGGACCAGTAACCCTCAATTTTGGGGTCCCCCCGCATAGCATAGGCACTCCTGAATTTCCAAGTTTAGTGTGACAGTCCCCAGTAGCTGCCCACCTTACACTGGGGACTCCCCAATATACACTAGAAACTCATAAAATATGGCACACA
|
pathogenic
| 303,452 |
Is the variant located on chromosome 19 at position 38473588, gene RYR1 (ryanodine receptor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['RYR1-related_disorder']
|
GAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAAAAGTTGCAGTCAGCCAAGATTGCACCATTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGATTCTGAGAACAAAGAATCTTGTATGCACAGTTTTAGGGCAAATTCATTGGCTGGCAAGGAGTACCTAGGTTCATCTTGGCAACTGGTCCTTGGAGAGGTCAACGTGAGGAGGGGCATGAAAGAGAACAACTTTCATTGTTTACCGAGTCTCTAGGAGACTTTTGAGAGTCCATTGTTTTTGGTTTTTGTTTTTTGAGACTGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCAAGATCTCAGCTCCCCACAACCTCTGCCTCCCGAGTTCAAGCGATTCTTTTGCCTCAGTCTCCTTAGTAGCTGGAATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTACAGATGAGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCAGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCTGTCGCTATTTGTGGAATTGTAACTGAACACAGGTTCAGTTGCTCATCAGTTACAGAGTCCAATTAACAAGAGCGAGGTCTGGTAGAAAGAAAATGACTTTATTCATCAAAACTAGTCATGGAGAAGTGACCGGATTCCCATCCGAAGCAACCACTTCAAATCTAGGGGGGAAAGCAAGGGTTTAAAAAGGGGAAACTTGGCTGGGGGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACTGAGGCAGGCGGATCACATGAACTCAGGAGATTGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGCGTGTTGGCTCATGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTTGTCTAAAAAAAAAAAAAAAAAAAAAAGAAGTCTGAGAACAAAGAATCTTGTACGCACAGTTTTTGGGGCAAATTTTCAGGAGACTGAGACACAAGAATCATTTGAACCCTGTAGGCAGAGGTTGCGGTGAGCCGAGATCCTGCTATTGCACTCCAGCCTGGGCCACAGAGCAAGACTGTGTCTCAAAAAAAAAAAAAAAAGCATTGAAGTTGAGCTGCCTGGTTACTGGTTACAGAATGACAGAGTAGATTGTTAGATGGATGTAGGGAGGTTTTGGAAGTTACCCCAAGTGATTCCAGTGTGTGTCCGGGGCTGCTAGTGTACACGACGCCCAGAGAAATGTTGCAGAGGGCTGCAAGCACCCCAGGGCCCAGCGGTGTACCCGGCCGGGAGCTTCATCCCCCTGCAGGAGTGGGGGGCCCTTGACTAATTCCCATGCAGGTGCACTATGGCCTAATGGTGGCTCCGTGTGTGACCAGGTGTAGGACCAACGGCCTGGCCTAGCCCGCCTGCCCAGCCCAGTACTCCATTCCCTGCCACCTCAGGTATCCCGAGTGGACGGCACTGTGGACACGCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCCCAGAACAGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTCCGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGGCACCCCGCAGGCGGGGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACCGAGAAGAACAAGAAGAGAGGGTGAGTCGAGGGGGGCCCAGAGTGGGGATTGGGGGCTGCCTTGGGACCCCCAAGTAGGCAACCACAGTAACCTGAGAAACCCCCATTGTACCCCAAAGTAGACCCATATATGCTAAGTGGAGTAAGAATACCGAGAGATTCTATCATGTCTCCAATGAACCCCATTATTTTCCTGGGATGCCCTAATGTCCCCAAGAATATATAATTGGGTACCCTAGTATCTATATGGAGAACTCTATTATCCTTGAGTACCTGGAGGGCCCCAAAGGGCTTCGCCCAATGGACCTTATCATCCGTGGACACTAAAAGGGACTTCAGTATCTTCCTAGGAGAGTTTACTGCACAGTAAGGTATCCCAGTGAATACCCAGTGGTCTTCTAAATGGGGATCCTTTCTGTGTCACAAATGTACCCCCCGAAATCTAACTTAAAGGGAGATTCTGAGAAGGTACTAAATCTGCTTTTTCCCTACAATGGCAGTGGTTTCCTTTTTTTCTTTCTATCTTTTTTTTTTTGAGGAGGAATCTCTGTCGCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGACATGAGCTACCACGCCCGGCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTTGGCTCTCTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTATCTGGGACTACAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGTACGATGGCAGAGGTTTTCAATGGGATTGAAAACCCATTGTGTCTCTTGGTGGATGTTTGGAAATGATGGAGTCTTTGTGGTCATTACAGTTTGGGAGGGGCTGCTGCTGCTGGGCGGGGGCCCCAGGGTTCCGCCTGCCTTGCAGTGTACAAAACAGTGCCGCACAATGAAGAATTGTCCTTTTCCAAGTGCATTTAGCACCTATACGAGAAATGCATGTGGGAAATGCTGACTTAGGGGGACCCCCATATAACCCAGTGGGGACCTCCATATTCCCAGAAGGCGCCTTTAATTTGGGTAACTCAGCATCCACAAGCGCAGAGCATAGCACTTCTAGAATGGATTAGTCTGGGGTAGGTGGGAATCCAGCCCTCTAGAGGCAAGACCTGGGGTATTAGAAGCAGGGTGTATCCAAGCTGGATGTGGGGGCATGAATATTGCGGTGGGAGGGCTGGGCTTGAAAGCTGGCTCTCATGGCGCCTCTCCTCCCACTACCAGCTTCTTATTCAAGGCCAAGAAGGTCGCCATGATGACCCAGCCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGCAGACAACCGCGATGACCCCGAGATCATCCTCAACACCACCACGGTGTGGACCAGTAACCCTCAATTTTGGGGTCCCCCCGCATAGCATAGGCACTCCTGAATTTCCAAGTTTAGTGTGACAGTCCCCAGTAGCTGCCCACCTTACACTGGGGACTCCCCAATATACACTAGAAACTCATAAAATATGGCACACACAGATTTAATCCTTTGAACCCCTAAATCCATATA
|
GAGTGAATGCAGAAACCAGATTTATAAGACAGAGGGGAGAAAGAGGAGAGAAAAAAGACCCCTAAAGAGTCTGAGAACAGGCTGGGCTCGGTGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCCGATGTGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTTCTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAAAAGTTGCAGTCAGCCAAGATTGCACCATTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGATTCTGAGAACAAAGAATCTTGTATGCACAGTTTTAGGGCAAATTCATTGGCTGGCAAGGAGTACCTAGGTTCATCTTGGCAACTGGTCCTTGGAGAGGTCAACGTGAGGAGGGGCATGAAAGAGAACAACTTTCATTGTTTACCGAGTCTCTAGGAGACTTTTGAGAGTCCATTGTTTTTGGTTTTTGTTTTTTGAGACTGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCAAGATCTCAGCTCCCCACAACCTCTGCCTCCCGAGTTCAAGCGATTCTTTTGCCTCAGTCTCCTTAGTAGCTGGAATTACAGGCATGTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTACAGATGAGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCAGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCTGTCGCTATTTGTGGAATTGTAACTGAACACAGGTTCAGTTGCTCATCAGTTACAGAGTCCAATTAACAAGAGCGAGGTCTGGTAGAAAGAAAATGACTTTATTCATCAAAACTAGTCATGGAGAAGTGACCGGATTCCCATCCGAAGCAACCACTTCAAATCTAGGGGGGAAAGCAAGGGTTTAAAAAGGGGAAACTTGGCTGGGGGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGACTGAGGCAGGCGGATCACATGAACTCAGGAGATTGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGCGTGTTGGCTCATGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTTGTCTAAAAAAAAAAAAAAAAAAAAAAGAAGTCTGAGAACAAAGAATCTTGTACGCACAGTTTTTGGGGCAAATTTTCAGGAGACTGAGACACAAGAATCATTTGAACCCTGTAGGCAGAGGTTGCGGTGAGCCGAGATCCTGCTATTGCACTCCAGCCTGGGCCACAGAGCAAGACTGTGTCTCAAAAAAAAAAAAAAAAGCATTGAAGTTGAGCTGCCTGGTTACTGGTTACAGAATGACAGAGTAGATTGTTAGATGGATGTAGGGAGGTTTTGGAAGTTACCCCAAGTGATTCCAGTGTGTGTCCGGGGCTGCTAGTGTACACGACGCCCAGAGAAATGTTGCAGAGGGCTGCAAGCACCCCAGGGCCCAGCGGTGTACCCGGCCGGGAGCTTCATCCCCCTGCAGGAGTGGGGGGCCCTTGACTAATTCCCATGCAGGTGCACTATGGCCTAATGGTGGCTCCGTGTGTGACCAGGTGTAGGACCAACGGCCTGGCCTAGCCCGCCTGCCCAGCCCAGTACTCCATTCCCTGCCACCTCAGGTATCCCGAGTGGACGGCACTGTGGACACGCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCCCAGAACAGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTCCGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGGCACCCCGCAGGCGGGGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACCGAGAAGAACAAGAAGAGAGGGTGAGTCGAGGGGGGCCCAGAGTGGGGATTGGGGGCTGCCTTGGGACCCCCAAGTAGGCAACCACAGTAACCTGAGAAACCCCCATTGTACCCCAAAGTAGACCCATATATGCTAAGTGGAGTAAGAATACCGAGAGATTCTATCATGTCTCCAATGAACCCCATTATTTTCCTGGGATGCCCTAATGTCCCCAAGAATATATAATTGGGTACCCTAGTATCTATATGGAGAACTCTATTATCCTTGAGTACCTGGAGGGCCCCAAAGGGCTTCGCCCAATGGACCTTATCATCCGTGGACACTAAAAGGGACTTCAGTATCTTCCTAGGAGAGTTTACTGCACAGTAAGGTATCCCAGTGAATACCCAGTGGTCTTCTAAATGGGGATCCTTTCTGTGTCACAAATGTACCCCCCGAAATCTAACTTAAAGGGAGATTCTGAGAAGGTACTAAATCTGCTTTTTCCCTACAATGGCAGTGGTTTCCTTTTTTTCTTTCTATCTTTTTTTTTTTGAGGAGGAATCTCTGTCGCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGACATGAGCTACCACGCCCGGCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTTGGCTCTCTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTATCTGGGACTACAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGTACGATGGCAGAGGTTTTCAATGGGATTGAAAACCCATTGTGTCTCTTGGTGGATGTTTGGAAATGATGGAGTCTTTGTGGTCATTACAGTTTGGGAGGGGCTGCTGCTGCTGGGCGGGGGCCCCAGGGTTCCGCCTGCCTTGCAGTGTACAAAACAGTGCCGCACAATGAAGAATTGTCCTTTTCCAAGTGCATTTAGCACCTATACGAGAAATGCATGTGGGAAATGCTGACTTAGGGGGACCCCCATATAACCCAGTGGGGACCTCCATATTCCCAGAAGGCGCCTTTAATTTGGGTAACTCAGCATCCACAAGCGCAGAGCATAGCACTTCTAGAATGGATTAGTCTGGGGTAGGTGGGAATCCAGCCCTCTAGAGGCAAGACCTGGGGTATTAGAAGCAGGGTGTATCCAAGCTGGATGTGGGGGCATGAATATTGCGGTGGGAGGGCTGGGCTTGAAAGCTGGCTCTCATGGCGCCTCTCCTCCCACTACCAGCTTCTTATTCAAGGCCAAGAAGGTCGCCATGATGACCCAGCCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGCAGACAACCGCGATGACCCCGAGATCATCCTCAACACCACCACGGTGTGGACCAGTAACCCTCAATTTTGGGGTCCCCCCGCATAGCATAGGCACTCCTGAATTTCCAAGTTTAGTGTGACAGTCCCCAGTAGCTGCCCACCTTACACTGGGGACTCCCCAATATACACTAGAAACTCATAAAATATGGCACACACAGATTTAATCCTTTGAACCCCTAAATCCATATANNNNN
|
pathogenic
| 303,455 |
A mutation at chromosome position 38478417 on chromosome 19 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
TTGTGTTTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGGTCTACCCGCCTCGGTCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAATTTTTGTATTTTTGGTAGAAACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAATCCCCGACCTCAAATGATCCTACTGCCTCAGACTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGTTCGGCTGTAGATTCTTACAAGGAGTACTCACCCTAGGTGGCTTGGATCCCAGTACCAGCCCACAGCCTGGGGTTGGGGATCCCTGGCCTCGAGATTAGATCATGGGCCGACTGGGTGCCACTTGGGCAAAAGTCATTTCACCACTCTATGCCTTCTCTCCTATGGAGGTGCTATGGTTTTCCATCAGTAGAATGGGGGTAAAAATTATACCTACCTGATATGGAGGATGAAGTGAGTTAATCTGTGTAGACCTTAGAACAGGCCTGGCATGATGGCTCACACCCGTAGTCCCAGAACGTTGGGAGGCCAAGGTGAGAGGATCACTTCAATCCAGGAATTTGAGGCTGCAGGCTACGATGGTGCCTCTGCACTCCAGCCTGGATGACAGAGGGAGACTGCAACTCAAAAAAAATAAAAATAAAAAAATAAGGAAAGAAAAAAAAGAAGAAGAAGAAGGAAAGAAAAAAAAGACCTTAGCACAGTCAGTGCTATTTGTGAGCAATTATTTAATTATTTTTTGTATTTTTTTATTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGAGTTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTTCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTGCAATTATTTATTTGTCAGTCTACTGTAACCTGGGAGGAACCCAAATATGGCACTGTCACACAATATTCCCAAGGGACTCCTAAATCTAGAATTGCACAAATTGACACAGAAACAGACATAACCAGGGGGTGGGGGACTCAGATCCAACAACTTCCTGTTAAACTCCCAGAGGACCCAACAGTCCAGGGAAACCAATTTCGAGTCCCAGGGAGCCCGAGTCCCTGACTTCCAGACTGACCACTAGTTCCCCTCCTTGTGTCACCAGTACTATTACTCCGTGAGGGTCTTTGCTGGACAGGAGCCCAGCTGCGTGTGGGCGGGCTGGGTCACCCCTGACTACCATCAGCACGACATGAGCTTCGACCTCAGCAAGGTCCGGGTCGTGACGGTGACCATGGGGGATGAACAAGGCAACGTCCACAGCAGGTGCCGGGGCTGGGGGGAGGTGGGAGGTGCAGGGTGGGGAGGGCAGGAGGCAGTCAGAGCTCCCGACACCAGCTCTGTGGCTGCCTGGTTGTGGGACCTAGGAACTTTCTGGAGCGGGAGGATTCTCTGGGGCACTGGGCACCCAGCTCGGAAGCTTCCCTCCTCCTCTTTTTCCTCCTCTCTTCCTGCCCTGGTATTTTTCTTCTCCTCCTCCTCCTCTTTATGCATTTCTCCTATTCCATTTTCTCCTTTTCCTTCTCATCCTGTTTCATCTCACCCTTCTCCTTCTCTGTCATCTCATTCTCTCTCCTCCTGCTTCCCTTGCTTTCCCTCCTTTCAGACCCCCACCCCCATCCTGACTCCCCACTGCGCCAGCTGCTAGGAATCCCAGCTCCGAAGAGCTCAGTGTCCGGGGCGAGGGGTTTCAGCTCTCAGGTCTGCAGGCGGTGGGTGTTTGGGGATGGGACTCTGAGGTTGTGTGTTTCCGGGAGCTTGGGGAAGGGGGTGTCCAGGGTCCAGAGCTACTCACATGAGGAGTGCAGTGACCGCTTCTGTCTCCTGCAGCCTCAAGTGTAGCAACTGCTACATGGTGTGGGGCGGAGACTTTGTGAGTCCCGGGCAGCAGGGCCGGATCAGCCACACGGACCTTGTCATTGGGTGCCTGGTGGACTTGGCCACTGGCTTAATGACCTTTACAGCCAATGGCAAAGAGAGCAACACCTTTTTCCAGGTGAGTCCAGGCCACAGCAATTTAGCGAGAGCATCATGTCCCAGCATCCCAGGACAGCTCTTATAGATGTCCCCTGAGGCCAGACCTCAGAGATGGAACAAAAACAGCTCCTAGGCTGTCCTCAAGAGGTCGCTGGGAGACCACCTTGTTGAAACTTCCATGAAACTAAGGCCCAGACTGGAGGAGATACAGAATCTCACTCTGTTGCCCAGACTGGAGTGCAATGGGACGATCTTGGCTCACTGCAACCTTCGCCTCCTGGGTTAGAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGAGCACCACAACAGCCGGCTAAGTTTTATGTTTTTAGTAGAGACGAGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCAGAGTCCAGCCTTGACCTTGGAAAGAGGTTTCTGTTCCCTCTTGAGCTGGGTGACACCAGTCACCAACTTCTCTCCAACCAGGGAACACGCTAGGATGGGCCAGAATCCTAAGGTGGCCTTTTCCTTTTCAACATTTTATTCTGAAAAATTTCAATCATACAGCAAAATTGAAGGAGCTATGTAGATAACACCCTGTACCCACCACCTGGAATCTACTATCAATGTTGTAGATATTGGCTTTATCACATATTCACCTACCTGTCCATTAATCTAAGGTGGGTTTGTACAACTTTATTTTAATTTTTTGGCATCCATTGTTGGTTATGAAATTTTATTGCATTTTATTTTCTTTATTTTGAGACAGGGCCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTGACTGCAGCCTCAACTTCCCAGGCTCAAGCAATCCTTCTGTCTCAGCTTCCTAAGTAGCTGGGACTATAGGCATGCACCACCTTGACTAGCTGATTTTTTGTGTGTATTGTTTGTAGAGATGGGTTTTCCTCATATTGTCCAGGCTGGTCTCTCGCTTCTGGGCTCAAGCGATCTCCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCTTGAGTCACTGTGCCTGGCTTATTTTTTATTTTTATTTTTTGAGACAGGGTTTCGCTCTGTTACCCAGGCTGGAGTGCCATGGTGAGATCACAGCTCACTGCAGCCACAACCTTCCTGGACTCAAGCGATCCTCCCACTTCAGCCTCTTGAATAGTTGAGAACACAGGCACGTGCCACCATGCCCAGCTAATTTTTTTTGTATTTATTGTGCAGACGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCTCCTGGCTAAAGCTTTATGTTAAATGGAGAATTAAAAACGTATACAAGAATGGAATAGTATAATGAACTGCCATGCCCCTGTCACACAGCTTCAACTGTCACCCACTCACAGCCAATCTTGTTTCATCTTTTTTGTCTGTTTGTTTTTTGAGAGAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTATGCACCACCATGCCTGGCTAATTTTTTTTAGTTTTAGTGGAGACAGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGATGGGATGACAGGTATAAGCCACTGCGCCTGGCTTGTTTCATCTTTTTATATCTA
|
TTGTGTTTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGGTCTACCCGCCTCGGTCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAATTTTTGTATTTTTGGTAGAAACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAATCCCCGACCTCAAATGATCCTACTGCCTCAGACTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGTTCGGCTGTAGATTCTTACAAGGAGTACTCACCCTAGGTGGCTTGGATCCCAGTACCAGCCCACAGCCTGGGGTTGGGGATCCCTGGCCTCGAGATTAGATCATGGGCCGACTGGGTGCCACTTGGGCAAAAGTCATTTCACCACTCTATGCCTTCTCTCCTATGGAGGTGCTATGGTTTTCCATCAGTAGAATGGGGGTAAAAATTATACCTACCTGATATGGAGGATGAAGTGAGTTAATCTGTGTAGACCTTAGAACAGGCCTGGCATGATGGCTCACACCCGTAGTCCCAGAACGTTGGGAGGCCAAGGTGAGAGGATCACTTCAATCCAGGAATTTGAGGCTGCAGGCTACGATGGTGCCTCTGCACTCCAGCCTGGATGACAGAGGGAGACTGCAACTCAAAAAAAATAAAAATAAAAAAATAAGGAAAGAAAAAAAAGAAGAAGAAGAAGGAAAGAAAAAAAAGACCTTAGCACAGTCAGTGCTATTTGTGAGCAATTATTTAATTATTTTTTGTATTTTTTTATTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGAGTTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTTCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTGCAATTATTTATTTGTCAGTCTACTGTAACCTGGGAGGAACCCAAATATGGCACTGTCACACAATATTCCCAAGGGACTCCTAAATCTAGAATTGCACAAATTGACACAGAAACAGACATAACCAGGGGGTGGGGGACTCAGATCCAACAACTTCCTGTTAAACTCCCAGAGGACCCAACAGTCCAGGGAAACCAATTTCGAGTCCCAGGGAGCCCGAGTCCCTGACTTCCAGACTGACCACTAGTTCCCCTCCTTGTGTCACCAGTACTATTACTCCGTGAGGGTCTTTGCTGGACAGGAGCCCAGCTGCGTGTGGGCGGGCTGGGTCACCCCTGACTACCATCAGCACGACATGAGCTTCGACCTCAGCAAGGTCCGGGTCGTGACGGTGACCATGGGGGATGAACAAGGCAACGTCCACAGCAGGTGCCGGGGCTGGGGGGAGGTGGGAGGTGCAGGGTGGGGAGGGCAGGAGGCAGTCAGAGCTCCCGACACCAGCTCTGTGGCTGCCTGGTTGTGGGACCTAGGAACTTTCTGGAGCGGGAGGATTCTCTGGGGCACTGGGCACCCAGCTCGGAAGCTTCCCTCCTCCTCTTTTTCCTCCTCTCTTCCTGCCCTGGTATTTTTCTTCTCCTCCTCCTCCTCTTTATGCATTTCTCCTATTCCATTTTCTCCTTTTCCTTCTCATCCTGTTTCATCTCACCCTTCTCCTTCTCTGTCATCTCATTCTCTCTCCTCCTGCTTCCCTTGCTTTCCCTCCTTTCAGACCCCCACCCCCATCCTGACTCCCCACTGCGCCAGCTGCTAGGAATCCCAGCTCCGAAGAGCTCAGTGTCCGGGGCGAGGGGTTTCAGCTCTCAGGTCTGCAGGCGGTGGGTGTTTGGGGATGGGACTCTGAGGTTGTGTGTTTCCGGGAGCTTGGGGAAGGGGGTGTCCAGGGTCCAGAGCTACTCACATGAGGAGTGCAGTGACCCTTCTGTCTCCTGCAGCCTCAAGTGTAGCAACTGCTACATGGTGTGGGGCGGAGACTTTGTGAGTCCCGGGCAGCAGGGCCGGATCAGCCACACGGACCTTGTCATTGGGTGCCTGGTGGACTTGGCCACTGGCTTAATGACCTTTACAGCCAATGGCAAAGAGAGCAACACCTTTTTCCAGGTGAGTCCAGGCCACAGCAATTTAGCGAGAGCATCATGTCCCAGCATCCCAGGACAGCTCTTATAGATGTCCCCTGAGGCCAGACCTCAGAGATGGAACAAAAACAGCTCCTAGGCTGTCCTCAAGAGGTCGCTGGGAGACCACCTTGTTGAAACTTCCATGAAACTAAGGCCCAGACTGGAGGAGATACAGAATCTCACTCTGTTGCCCAGACTGGAGTGCAATGGGACGATCTTGGCTCACTGCAACCTTCGCCTCCTGGGTTAGAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGAGCACCACAACAGCCGGCTAAGTTTTATGTTTTTAGTAGAGACGAGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCAGAGTCCAGCCTTGACCTTGGAAAGAGGTTTCTGTTCCCTCTTGAGCTGGGTGACACCAGTCACCAACTTCTCTCCAACCAGGGAACACGCTAGGATGGGCCAGAATCCTAAGGTGGCCTTTTCCTTTTCAACATTTTATTCTGAAAAATTTCAATCATACAGCAAAATTGAAGGAGCTATGTAGATAACACCCTGTACCCACCACCTGGAATCTACTATCAATGTTGTAGATATTGGCTTTATCACATATTCACCTACCTGTCCATTAATCTAAGGTGGGTTTGTACAACTTTATTTTAATTTTTTGGCATCCATTGTTGGTTATGAAATTTTATTGCATTTTATTTTCTTTATTTTGAGACAGGGCCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTGACTGCAGCCTCAACTTCCCAGGCTCAAGCAATCCTTCTGTCTCAGCTTCCTAAGTAGCTGGGACTATAGGCATGCACCACCTTGACTAGCTGATTTTTTGTGTGTATTGTTTGTAGAGATGGGTTTTCCTCATATTGTCCAGGCTGGTCTCTCGCTTCTGGGCTCAAGCGATCTCCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCTTGAGTCACTGTGCCTGGCTTATTTTTTATTTTTATTTTTTGAGACAGGGTTTCGCTCTGTTACCCAGGCTGGAGTGCCATGGTGAGATCACAGCTCACTGCAGCCACAACCTTCCTGGACTCAAGCGATCCTCCCACTTCAGCCTCTTGAATAGTTGAGAACACAGGCACGTGCCACCATGCCCAGCTAATTTTTTTTGTATTTATTGTGCAGACGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCTCCTGGCTAAAGCTTTATGTTAAATGGAGAATTAAAAACGTATACAAGAATGGAATAGTATAATGAACTGCCATGCCCCTGTCACACAGCTTCAACTGTCACCCACTCACAGCCAATCTTGTTTCATCTTTTTTGTCTGTTTGTTTTTTGAGAGAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTATGCACCACCATGCCTGGCTAATTTTTTTTAGTTTTAGTGGAGACAGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGATGGGATGACAGGTATAAGCCACTGCGCCTGGCTTGTTTCATCTTTTTATATCTAN
|
benign
| 303,500 |
Does the genetic variant at chromosome 19, position 38478460, impacting gene RYR1 (ryanodine receptor 1), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['RYR1-related_disorder']
|
TGGTCTCAAACTCCTGACCTCGTGGTCTACCCGCCTCGGTCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAATTTTTGTATTTTTGGTAGAAACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAATCCCCGACCTCAAATGATCCTACTGCCTCAGACTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGTTCGGCTGTAGATTCTTACAAGGAGTACTCACCCTAGGTGGCTTGGATCCCAGTACCAGCCCACAGCCTGGGGTTGGGGATCCCTGGCCTCGAGATTAGATCATGGGCCGACTGGGTGCCACTTGGGCAAAAGTCATTTCACCACTCTATGCCTTCTCTCCTATGGAGGTGCTATGGTTTTCCATCAGTAGAATGGGGGTAAAAATTATACCTACCTGATATGGAGGATGAAGTGAGTTAATCTGTGTAGACCTTAGAACAGGCCTGGCATGATGGCTCACACCCGTAGTCCCAGAACGTTGGGAGGCCAAGGTGAGAGGATCACTTCAATCCAGGAATTTGAGGCTGCAGGCTACGATGGTGCCTCTGCACTCCAGCCTGGATGACAGAGGGAGACTGCAACTCAAAAAAAATAAAAATAAAAAAATAAGGAAAGAAAAAAAAGAAGAAGAAGAAGGAAAGAAAAAAAAGACCTTAGCACAGTCAGTGCTATTTGTGAGCAATTATTTAATTATTTTTTGTATTTTTTTATTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGAGTTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTTCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTGCAATTATTTATTTGTCAGTCTACTGTAACCTGGGAGGAACCCAAATATGGCACTGTCACACAATATTCCCAAGGGACTCCTAAATCTAGAATTGCACAAATTGACACAGAAACAGACATAACCAGGGGGTGGGGGACTCAGATCCAACAACTTCCTGTTAAACTCCCAGAGGACCCAACAGTCCAGGGAAACCAATTTCGAGTCCCAGGGAGCCCGAGTCCCTGACTTCCAGACTGACCACTAGTTCCCCTCCTTGTGTCACCAGTACTATTACTCCGTGAGGGTCTTTGCTGGACAGGAGCCCAGCTGCGTGTGGGCGGGCTGGGTCACCCCTGACTACCATCAGCACGACATGAGCTTCGACCTCAGCAAGGTCCGGGTCGTGACGGTGACCATGGGGGATGAACAAGGCAACGTCCACAGCAGGTGCCGGGGCTGGGGGGAGGTGGGAGGTGCAGGGTGGGGAGGGCAGGAGGCAGTCAGAGCTCCCGACACCAGCTCTGTGGCTGCCTGGTTGTGGGACCTAGGAACTTTCTGGAGCGGGAGGATTCTCTGGGGCACTGGGCACCCAGCTCGGAAGCTTCCCTCCTCCTCTTTTTCCTCCTCTCTTCCTGCCCTGGTATTTTTCTTCTCCTCCTCCTCCTCTTTATGCATTTCTCCTATTCCATTTTCTCCTTTTCCTTCTCATCCTGTTTCATCTCACCCTTCTCCTTCTCTGTCATCTCATTCTCTCTCCTCCTGCTTCCCTTGCTTTCCCTCCTTTCAGACCCCCACCCCCATCCTGACTCCCCACTGCGCCAGCTGCTAGGAATCCCAGCTCCGAAGAGCTCAGTGTCCGGGGCGAGGGGTTTCAGCTCTCAGGTCTGCAGGCGGTGGGTGTTTGGGGATGGGACTCTGAGGTTGTGTGTTTCCGGGAGCTTGGGGAAGGGGGTGTCCAGGGTCCAGAGCTACTCACATGAGGAGTGCAGTGACCGCTTCTGTCTCCTGCAGCCTCAAGTGTAGCAACTGCTACATGGTGTGGGGCGGAGACTTTGTGAGTCCCGGGCAGCAGGGCCGGATCAGCCACACGGACCTTGTCATTGGGTGCCTGGTGGACTTGGCCACTGGCTTAATGACCTTTACAGCCAATGGCAAAGAGAGCAACACCTTTTTCCAGGTGAGTCCAGGCCACAGCAATTTAGCGAGAGCATCATGTCCCAGCATCCCAGGACAGCTCTTATAGATGTCCCCTGAGGCCAGACCTCAGAGATGGAACAAAAACAGCTCCTAGGCTGTCCTCAAGAGGTCGCTGGGAGACCACCTTGTTGAAACTTCCATGAAACTAAGGCCCAGACTGGAGGAGATACAGAATCTCACTCTGTTGCCCAGACTGGAGTGCAATGGGACGATCTTGGCTCACTGCAACCTTCGCCTCCTGGGTTAGAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGAGCACCACAACAGCCGGCTAAGTTTTATGTTTTTAGTAGAGACGAGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCAGAGTCCAGCCTTGACCTTGGAAAGAGGTTTCTGTTCCCTCTTGAGCTGGGTGACACCAGTCACCAACTTCTCTCCAACCAGGGAACACGCTAGGATGGGCCAGAATCCTAAGGTGGCCTTTTCCTTTTCAACATTTTATTCTGAAAAATTTCAATCATACAGCAAAATTGAAGGAGCTATGTAGATAACACCCTGTACCCACCACCTGGAATCTACTATCAATGTTGTAGATATTGGCTTTATCACATATTCACCTACCTGTCCATTAATCTAAGGTGGGTTTGTACAACTTTATTTTAATTTTTTGGCATCCATTGTTGGTTATGAAATTTTATTGCATTTTATTTTCTTTATTTTGAGACAGGGCCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTGACTGCAGCCTCAACTTCCCAGGCTCAAGCAATCCTTCTGTCTCAGCTTCCTAAGTAGCTGGGACTATAGGCATGCACCACCTTGACTAGCTGATTTTTTGTGTGTATTGTTTGTAGAGATGGGTTTTCCTCATATTGTCCAGGCTGGTCTCTCGCTTCTGGGCTCAAGCGATCTCCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCTTGAGTCACTGTGCCTGGCTTATTTTTTATTTTTATTTTTTGAGACAGGGTTTCGCTCTGTTACCCAGGCTGGAGTGCCATGGTGAGATCACAGCTCACTGCAGCCACAACCTTCCTGGACTCAAGCGATCCTCCCACTTCAGCCTCTTGAATAGTTGAGAACACAGGCACGTGCCACCATGCCCAGCTAATTTTTTTTGTATTTATTGTGCAGACGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCTCCTGGCTAAAGCTTTATGTTAAATGGAGAATTAAAAACGTATACAAGAATGGAATAGTATAATGAACTGCCATGCCCCTGTCACACAGCTTCAACTGTCACCCACTCACAGCCAATCTTGTTTCATCTTTTTTGTCTGTTTGTTTTTTGAGAGAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTATGCACCACCATGCCTGGCTAATTTTTTTTAGTTTTAGTGGAGACAGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGATGGGATGACAGGTATAAGCCACTGCGCCTGGCTTGTTTCATCTTTTTATATCTACTTCCCTTCCACACCCACTGGATAATTTTGAAGGAAATTGCAG
|
TGGTCTCAAACTCCTGACCTCGTGGTCTACCCGCCTCGGTCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAATTTTTGTATTTTTGGTAGAAACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAATCCCCGACCTCAAATGATCCTACTGCCTCAGACTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGTTCGGCTGTAGATTCTTACAAGGAGTACTCACCCTAGGTGGCTTGGATCCCAGTACCAGCCCACAGCCTGGGGTTGGGGATCCCTGGCCTCGAGATTAGATCATGGGCCGACTGGGTGCCACTTGGGCAAAAGTCATTTCACCACTCTATGCCTTCTCTCCTATGGAGGTGCTATGGTTTTCCATCAGTAGAATGGGGGTAAAAATTATACCTACCTGATATGGAGGATGAAGTGAGTTAATCTGTGTAGACCTTAGAACAGGCCTGGCATGATGGCTCACACCCGTAGTCCCAGAACGTTGGGAGGCCAAGGTGAGAGGATCACTTCAATCCAGGAATTTGAGGCTGCAGGCTACGATGGTGCCTCTGCACTCCAGCCTGGATGACAGAGGGAGACTGCAACTCAAAAAAAATAAAAATAAAAAAATAAGGAAAGAAAAAAAAGAAGAAGAAGAAGGAAAGAAAAAAAAGACCTTAGCACAGTCAGTGCTATTTGTGAGCAATTATTTAATTATTTTTTGTATTTTTTTATTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGAGTTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTTCCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTGCAATTATTTATTTGTCAGTCTACTGTAACCTGGGAGGAACCCAAATATGGCACTGTCACACAATATTCCCAAGGGACTCCTAAATCTAGAATTGCACAAATTGACACAGAAACAGACATAACCAGGGGGTGGGGGACTCAGATCCAACAACTTCCTGTTAAACTCCCAGAGGACCCAACAGTCCAGGGAAACCAATTTCGAGTCCCAGGGAGCCCGAGTCCCTGACTTCCAGACTGACCACTAGTTCCCCTCCTTGTGTCACCAGTACTATTACTCCGTGAGGGTCTTTGCTGGACAGGAGCCCAGCTGCGTGTGGGCGGGCTGGGTCACCCCTGACTACCATCAGCACGACATGAGCTTCGACCTCAGCAAGGTCCGGGTCGTGACGGTGACCATGGGGGATGAACAAGGCAACGTCCACAGCAGGTGCCGGGGCTGGGGGGAGGTGGGAGGTGCAGGGTGGGGAGGGCAGGAGGCAGTCAGAGCTCCCGACACCAGCTCTGTGGCTGCCTGGTTGTGGGACCTAGGAACTTTCTGGAGCGGGAGGATTCTCTGGGGCACTGGGCACCCAGCTCGGAAGCTTCCCTCCTCCTCTTTTTCCTCCTCTCTTCCTGCCCTGGTATTTTTCTTCTCCTCCTCCTCCTCTTTATGCATTTCTCCTATTCCATTTTCTCCTTTTCCTTCTCATCCTGTTTCATCTCACCCTTCTCCTTCTCTGTCATCTCATTCTCTCTCCTCCTGCTTCCCTTGCTTTCCCTCCTTTCAGACCCCCACCCCCATCCTGACTCCCCACTGCGCCAGCTGCTAGGAATCCCAGCTCCGAAGAGCTCAGTGTCCGGGGCGAGGGGTTTCAGCTCTCAGGTCTGCAGGCGGTGGGTGTTTGGGGATGGGACTCTGAGGTTGTGTGTTTCCGGGAGCTTGGGGAAGGGGGTGTCCAGGGTCCAGAGCTACTCACATGAGGAGTGCAGTGACCGCTTCTGTCTCCTGCAGCCTCAAGTGTAGCAACTGCTACATGGTGTGAGTCCCGGGCAGCAGGGCCGGATCAGCCACACGGACCTTGTCATTGGGTGCCTGGTGGACTTGGCCACTGGCTTAATGACCTTTACAGCCAATGGCAAAGAGAGCAACACCTTTTTCCAGGTGAGTCCAGGCCACAGCAATTTAGCGAGAGCATCATGTCCCAGCATCCCAGGACAGCTCTTATAGATGTCCCCTGAGGCCAGACCTCAGAGATGGAACAAAAACAGCTCCTAGGCTGTCCTCAAGAGGTCGCTGGGAGACCACCTTGTTGAAACTTCCATGAAACTAAGGCCCAGACTGGAGGAGATACAGAATCTCACTCTGTTGCCCAGACTGGAGTGCAATGGGACGATCTTGGCTCACTGCAACCTTCGCCTCCTGGGTTAGAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGAGCACCACAACAGCCGGCTAAGTTTTATGTTTTTAGTAGAGACGAGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCAGAGTCCAGCCTTGACCTTGGAAAGAGGTTTCTGTTCCCTCTTGAGCTGGGTGACACCAGTCACCAACTTCTCTCCAACCAGGGAACACGCTAGGATGGGCCAGAATCCTAAGGTGGCCTTTTCCTTTTCAACATTTTATTCTGAAAAATTTCAATCATACAGCAAAATTGAAGGAGCTATGTAGATAACACCCTGTACCCACCACCTGGAATCTACTATCAATGTTGTAGATATTGGCTTTATCACATATTCACCTACCTGTCCATTAATCTAAGGTGGGTTTGTACAACTTTATTTTAATTTTTTGGCATCCATTGTTGGTTATGAAATTTTATTGCATTTTATTTTCTTTATTTTGAGACAGGGCCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTGACTGCAGCCTCAACTTCCCAGGCTCAAGCAATCCTTCTGTCTCAGCTTCCTAAGTAGCTGGGACTATAGGCATGCACCACCTTGACTAGCTGATTTTTTGTGTGTATTGTTTGTAGAGATGGGTTTTCCTCATATTGTCCAGGCTGGTCTCTCGCTTCTGGGCTCAAGCGATCTCCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCTTGAGTCACTGTGCCTGGCTTATTTTTTATTTTTATTTTTTGAGACAGGGTTTCGCTCTGTTACCCAGGCTGGAGTGCCATGGTGAGATCACAGCTCACTGCAGCCACAACCTTCCTGGACTCAAGCGATCCTCCCACTTCAGCCTCTTGAATAGTTGAGAACACAGGCACGTGCCACCATGCCCAGCTAATTTTTTTTGTATTTATTGTGCAGACGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCTCCTGGCTAAAGCTTTATGTTAAATGGAGAATTAAAAACGTATACAAGAATGGAATAGTATAATGAACTGCCATGCCCCTGTCACACAGCTTCAACTGTCACCCACTCACAGCCAATCTTGTTTCATCTTTTTTGTCTGTTTGTTTTTTGAGAGAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTATGCACCACCATGCCTGGCTAATTTTTTTTAGTTTTAGTGGAGACAGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGATGGGATGACAGGTATAAGCCACTGCGCCTGGCTTGTTTCATCTTTTTATATCTACTTCCCTTCCACACCCACTGGATAATTTTGAAGGAAATTGCAGNNNNNNNNNNNNNNNN
|
pathogenic
| 303,502 |
Determine whether the variant at chromosome 19, position 38483079, in gene RYR1 (ryanodine receptor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder']
|
TTATTTAATTATTTATTTTAATTTATTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGTGCGCAGTGGTGCCAACCGTACTCAACCTTATTTATTTATTTATTTTAATTTATTAAGACAGGGTCTCATTCTGTCACCCAGGCTGGTGCACAGTGGTGCAATCTTGGCTTACTGCAGCCTCAACCTCCTGGGATCAAACGATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACCACAGACACGCACTACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGACGGTGTTTTGCCATGTTGCCCAGGCCAGTCTTGAACTCCTGACCTCAAACTATTCGCCCACCTCCACCTCCCATGTAATCCCAGAATATAAAACGTGCTGGGATTACAGGTGTGCACCACCACGCTCGACCAGGGTCATATATTTTAGGTGGTTGCTCTGTACCTTGAGTTTCATTTCATATGTAGATTTCCCCCTCCATTCCTTCTTCTTTCCCAACCCCCCAGAAATGTATTTGTTGAAGGAACCAGGCTATTTGTCCTGTGGCACTTTGCTCCTCAAAGTGTGGTCCCTGGACCAACCAGCAGGAGAGCTGCAGGATCTTTAGCTGGGTCTAGTCATGGGCACCTGCAGTTCCAGCTACCCTGGAGGCTGAGGCAGGAGGATCACCTGAGTCTGGGAGGCAGAGGTTGTAGTGAGCTATGATAGCGCCACTGCACTCCAGCCTGGGTGGCAGAGCGAGACACTGCTTCTTTTTAAAAAAGTTAAAATGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCAGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGACGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACGTGGGAGGTGGAGTTTGCAGTGAGCCGAGATGATGCCACTGCACTCTCTAGCCTGGATGACAGAGTGAGACGTCATCTCAAAAAAATAAATAAACAAAATTAAATAAACCCAGAGTCTCAGACCCCTTCCCATGCCTGCCAAATCAGAATCTGTATTTTGACAGGATCCCAGGGGCTTCCTGTGTATATTAAATCTGGAGAGGGCTGGCCTGGTTTCCCATAGCCTGGATCTGGCTGGTGCATTCCTGTGGTGGCTTTTTAACATTTTCCTTTGTCCCCCATATTTCCTGTAAACTGGGAGTTGGGTCCCAGGGTGCAATTAGATCAGGTTTGGTGTGGGCGGGACTGCTTCAGAGACAATGTTGTTTGTGGAGGCAGAGGCTGGCTGGATGGGCTCCACTGGGAAGACGGGAGAGGGGCAAGACAGTCTGAGGACACTTCCTGGAATTTTTTGTTTTGAGATAGGGTCTTGTTCTGTCACCCAGGCTGAAGTGCGGTGGTGCAATCATGGCTCACTGCAGCCTCGACCTCCCAGGATCAAGCGATTCTCTCATCTTAGCCTCCTGAGTAGCTGCAACTACAGATATGGACCGCCATGCCTCGCTAATTTTTTATGTTTTGTAGAGATGGGGTCTCACTACGTTGCCCAGGCTGCTCTTGAACTCTTAGGCTCAGGTGACCCTCCCACTTCAGCCTCCCAAAGTTCTAGGATTACAGGTGTGAGCCATCACACTCTCTGGGTTTTGAATGAGTATGCTTGGGAGAGAAATGCGAAGGGCATTCCCAGTGCGGGGTGTGATGTGTGCAGAGACAGATGACAGGTTGCTCTGGGAAAGTTGGAGGAGGTTGGCCTGGCTGGATCAGAGGTGGGACAGTCTAAGGGTGACCTCTGAGCCATTTTGGAGCCTCTAACGCCCAGATGAGGACCTACAAATTGGCCCCAGAGTTTGAGGTCCAGAGTCAACCCTCCCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCAGGTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGGTACAAGTGCAGTGATGGGGGCACTAATGGGGCCAGGCTGAGGCAGGAGATGTGGGGAGGCCAGGCGGGCAGAGCCACTGAAGGGGAGGGGGCAATCCAAGAGGTCTCCCTGGAAGTGGTGTGGTGGGACAGAGGGGGCTGGCCATCTTGACCCATGTGTGTCTCTCTGCCCTCAGAACATCATGCCGTTGTCAGCCGCCATGTTCCAAAGCGAGCGCAAGAACCCGGCCCCGCAGTGCCCACCGCGGCTGGAGATGCAGATGCTGATGCCAGTGTCCTGGAGCCGCATGCCCAACCACTTCCTGCAGGTGGAGACGAGGCGTGCCGGCGAGCGGCTGGGCTGGGCCGTGCAGTGCCAGGAGCCGCTGACCATGATGGCGCTGCACATCCCCGAGGAGAACCGGTCAGGGCCAGCCCAGCTATGCAGGGGTGGGCAGGTGTTGCAAGCCCTCTGGGGTCTGGGTCCCACTCAGTGCCCCTCCTCAACACAACCCCGGGATTCCAGACTACACCCCAGGAATCTCCAGACCTACCTCAGGGGACTCGGGCTCAGCTCAGACATCCCCAGATTATGTCCCAGGGGGATTCAGACTCAACGCAGGAGGCTCTACACCATCCCAGTGGACCGCAGGCCCACCCTAAGGGAACCCAGACAATACCCCAAGGACCCAGACCCACTCCACAGGGCCCCAAACCCATCTCAGGGAGCCAGACCCACATCAACACCCCAGGGGGCCCCAAGTACACCCCAGGATCCCTGGACATGATTCAGGGAGGCTTGGATGCACCCTAGAGTCTCTTGGGCATATGCAGGGAGGCTTTAAGAAGAATCCCGTGGATATTTCAAACCCACCCCAGGGGACCCAGACACACCTAGGGCCACAGATGCGTTCACATGGATGGCAGGGTTACTCTTAAGAACTCTGAACGTGGCCAGGCACAGTGCCTCACACCTGTAATCCCAGCACGTTGGGAGGCTGAGGCAGGCAGGTCACCTGAGGTCAGGAGTCTCTACTAAAAATACAAAAATTAGCCAGTTGTGGTGGTGTGCACCCATCGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCATTGAGCTAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATGCCATCTCAAAAAATAGAATTCTGAACGTGGGAGGAATCCCAGACTCACCCAGGAGGCTTCTGACATGCCTCTTTCTTTCTTTCCTTCCTTCCTTCCTCCCTCCTTCCCTCTCTCCTTCCCTTCCTTCCTTCCTTCCCCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCTCTCCCTCCCTCACTTCCTTCCTTTATTCATTCATCCATTCAACAAATAGCTTTGGGTCCCTCCTATGTGCTAGGTAGTATTCCAGGCTGGAGACACCAAGCCCCTGTGAAGTGACATTCTAGTAATGCTTGTACATAACTCAGGATGCTCGGACATGCCCAAAGGGACCCAGGGTCATCCCCAGGGCCCCAGACACACCCGTTTATTAATTTATTCATTCAACAAATATTTATGGGTACAGTGGCTCATGTTTGTAATCTAAGCACTTCAGGAGGCTGAGGAGGAGGGAGGGTTGCTTGAGGCCAGGGGTTTGAAACCACCAGGAAGCACAGTGAGAACCCGTCTCCACATTTTTTTTTTCTTTTTAATTAGCTTGGCTTGGTGGCACACACATGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAGTTCAAGGCTGCAGAGCTAGGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCCATCACTAAACAACAACAACAACAAATGCTAAGCACTTTACTATGTGCTAGGTGTGGTTTTAGGTGCTGGGAATATAACAAACAAAAGCAGAAACAAAACAGGCAGAAATGTCCTGCCCTTGGAATTTACATTCTAATGGCACTCAAACACAACTAGTATAC
|
TTATTTAATTATTTATTTTAATTTATTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGTGCGCAGTGGTGCCAACCGTACTCAACCTTATTTATTTATTTATTTTAATTTATTAAGACAGGGTCTCATTCTGTCACCCAGGCTGGTGCACAGTGGTGCAATCTTGGCTTACTGCAGCCTCAACCTCCTGGGATCAAACGATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACCACAGACACGCACTACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGACGGTGTTTTGCCATGTTGCCCAGGCCAGTCTTGAACTCCTGACCTCAAACTATTCGCCCACCTCCACCTCCCATGTAATCCCAGAATATAAAACGTGCTGGGATTACAGGTGTGCACCACCACGCTCGACCAGGGTCATATATTTTAGGTGGTTGCTCTGTACCTTGAGTTTCATTTCATATGTAGATTTCCCCCTCCATTCCTTCTTCTTTCCCAACCCCCCAGAAATGTATTTGTTGAAGGAACCAGGCTATTTGTCCTGTGGCACTTTGCTCCTCAAAGTGTGGTCCCTGGACCAACCAGCAGGAGAGCTGCAGGATCTTTAGCTGGGTCTAGTCATGGGCACCTGCAGTTCCAGCTACCCTGGAGGCTGAGGCAGGAGGATCACCTGAGTCTGGGAGGCAGAGGTTGTAGTGAGCTATGATAGCGCCACTGCACTCCAGCCTGGGTGGCAGAGCGAGACACTGCTTCTTTTTAAAAAAGTTAAAATGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCAGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGACGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACGTGGGAGGTGGAGTTTGCAGTGAGCCGAGATGATGCCACTGCACTCTCTAGCCTGGATGACAGAGTGAGACGTCATCTCAAAAAAATAAATAAACAAAATTAAATAAACCCAGAGTCTCAGACCCCTTCCCATGCCTGCCAAATCAGAATCTGTATTTTGACAGGATCCCAGGGGCTTCCTGTGTATATTAAATCTGGAGAGGGCTGGCCTGGTTTCCCATAGCCTGGATCTGGCTGGTGCATTCCTGTGGTGGCTTTTTAACATTTTCCTTTGTCCCCCATATTTCCTGTAAACTGGGAGTTGGGTCCCAGGGTGCAATTAGATCAGGTTTGGTGTGGGCGGGACTGCTTCAGAGACAATGTTGTTTGTGGAGGCAGAGGCTGGCTGGATGGGCTCCACTGGGAAGACGGGAGAGGGGCAAGACAGTCTGAGGACACTTCCTGGAATTTTTTGTTTTGAGATAGGGTCTTGTTCTGTCACCCAGGCTGAAGTGCGGTGGTGCAATCATGGCTCACTGCAGCCTCGACCTCCCAGGATCAAGCGATTCTCTCATCTTAGCCTCCTGAGTAGCTGCAACTACAGATATGGACCGCCATGCCTCGCTAATTTTTTATGTTTTGTAGAGATGGGGTCTCACTACGTTGCCCAGGCTGCTCTTGAACTCTTAGGCTCAGGTGACCCTCCCACTTCAGCCTCCCAAAGTTCTAGGATTACAGGTGTGAGCCATCACACTCTCTGGGTTTTGAATGAGTATGCTTGGGAGAGAAATGCGAAGGGCATTCCCAGTGCGGGGTGTGATGTGTGCAGAGACAGATGACAGGTTGCTCTGGGAAAGTTGGAGGAGGTTGGCCTGGCTGGATCAGAGGTGGGACAGTCTAAGGGTGACCTCTGAGCCATTTTGGAGCCTCTAACGCCCAGATGAGGACCTACAAATTGGCCCCAGAGTTTGAGGTCCAGAGTCAACCCTCCCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCAGGTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGGTACAAGTGCAGTGATGGGGGCACTAATGGGGCCAGGCTGAGGCAGGAGATGTGGGGAGGCCAGGCGGGCAGAGCCACTGAAGGGGAGGGGGCAATCCAAGAGGTCTCCCTGGAAGTGGTGTGGTGGGACAGAGGGGGCTGGCCATCTTGACCCATGTGTGTCTCTCTGCCCTCAGAACATCATGCCGTTGTCAGCCGCCATGTTCCAAAGCGAGCGCAAGAACCCGGCCCCGCAGTGCCCACCGCGGCTGGAGATGCAGATGCTGATGCCAGTGTCCTGGAGCCGCATGCCCAACCACTTCCTGCAGGTGGAGACGAGGCGTGCCGGCGAGCGGCTGGGCTGGGCCGTGCAGTGCCAGGAGCCGCTGACCATGATGGCGCTGCACATCCCCGAGGAGAACCGGTCAGGGCCAGCCCAGCTATGCAGGGGTGGGCAGGTGTTGCAAGCCCTCTGGGGTCTGGGTCCCACTCAGTGCCCCTCCTCAACACAACCCCGGGATTCCAGACTACACCCCAGGAATCTCCAGACCTACCTCAGGGGACTCGGGCTCAGCTCAGACATCCCCAGATTATGTCCCAGGGGGATTCAGACTCAACGCAGGAGGCTCTACACCATCCCAGTGGACCGCAGGCCCACCCTAAGGGAACCCAGACAATACCCCAAGGACCCAGACCCACTCCACAGGGCCCCAAACCCATCTCAGGGAGCCAGACCCACATCAACACCCCAGGGGGCCCCAAGTACACCCCAGGATCCCTGGACATGATTCAGGGAGGCTTGGATGCACCCTAGAGTCTCTTGGGCATATGCAGGGAGGCTTTAAGAAGAATCCCGTGGATATTTCAAACCCACCCCAGGGGACCCAGACACACCTAGGGCCACAGATGCGTTCACATGGATGGCAGGGTTACTCTTAAGAACTCTGAACGTGGCCAGGCACAGTGCCTCACACCTGTAATCCCAGCACGTTGGGAGGCTGAGGCAGGCAGGTCACCTGAGGTCAGGAGTCTCTACTAAAAATACAAAAATTAGCCAGTTGTGGTGGTGTGCACCCATCGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCATTGAGCTAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATGCCATCTCAAAAAATAGAATTCTGAACGTGGGAGGAATCCCAGACTCACCCAGGAGGCTTCTGACATGCCTCTTTCTTTCTTTCCTTCCTTCCTTCCTCCCTCCTTCCCTCTCTCCTTCCCTTCCTTCCTTCCTTCCCCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCTCTCCCTCCCTCACTTCCTTCCTTTATTCATTCATCCATTCAACAAATAGCTTTGGGTCCCTCCTATGTGCTAGGTAGTATTCCAGGCTGGAGACACCAAGCCCCTGTGAAGTGACATTCTAGTAATGCTTGTACATAACTCAGGATGCTCGGACATGCCCAAAGGGACCCAGGGTCATCCCCAGGGCCCCAGACACACCCGTTTATTAATTTATTCATTCAACAAATATTTATGGGTACAGTGGCTCATGTTTGTAATCTAAGCACTTCAGGAGGCTGAGGAGGAGGGAGGGTTGCTTGAGGCCAGGGGTTTGAAACCACCAGGAAGCACAGTGAGAACCCGTCTCCACATTTTTTTTTTCTTTTTAATTAGCTTGGCTTGGTGGCACACACATGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAGTTCAAGGCTGCAGAGCTAGGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCCATCACTAAACAACAACAACAACAAATGCTAAGCACTTTACTATGTGCTAGGTGTGGTTTTAGGTGCTGGGAATATAACAAACAAAAGCAGAAACAAAACAGGCAGAAATGTCCTGCCCTTGGAATTTACATTCTAATGGCACTCAAACACAACTAGTATA
|
pathogenic
| 303,509 |
The mutation impacting RYR1 (ryanodine receptor 1) on chromosome 19 at position 38485732: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['RYR1-related_disorder']
|
TATGTCCCAGGGGGATTCAGACTCAACGCAGGAGGCTCTACACCATCCCAGTGGACCGCAGGCCCACCCTAAGGGAACCCAGACAATACCCCAAGGACCCAGACCCACTCCACAGGGCCCCAAACCCATCTCAGGGAGCCAGACCCACATCAACACCCCAGGGGGCCCCAAGTACACCCCAGGATCCCTGGACATGATTCAGGGAGGCTTGGATGCACCCTAGAGTCTCTTGGGCATATGCAGGGAGGCTTTAAGAAGAATCCCGTGGATATTTCAAACCCACCCCAGGGGACCCAGACACACCTAGGGCCACAGATGCGTTCACATGGATGGCAGGGTTACTCTTAAGAACTCTGAACGTGGCCAGGCACAGTGCCTCACACCTGTAATCCCAGCACGTTGGGAGGCTGAGGCAGGCAGGTCACCTGAGGTCAGGAGTCTCTACTAAAAATACAAAAATTAGCCAGTTGTGGTGGTGTGCACCCATCGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCATTGAGCTAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATGCCATCTCAAAAAATAGAATTCTGAACGTGGGAGGAATCCCAGACTCACCCAGGAGGCTTCTGACATGCCTCTTTCTTTCTTTCCTTCCTTCCTTCCTCCCTCCTTCCCTCTCTCCTTCCCTTCCTTCCTTCCTTCCCCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCTCTCCCTCCCTCACTTCCTTCCTTTATTCATTCATCCATTCAACAAATAGCTTTGGGTCCCTCCTATGTGCTAGGTAGTATTCCAGGCTGGAGACACCAAGCCCCTGTGAAGTGACATTCTAGTAATGCTTGTACATAACTCAGGATGCTCGGACATGCCCAAAGGGACCCAGGGTCATCCCCAGGGCCCCAGACACACCCGTTTATTAATTTATTCATTCAACAAATATTTATGGGTACAGTGGCTCATGTTTGTAATCTAAGCACTTCAGGAGGCTGAGGAGGAGGGAGGGTTGCTTGAGGCCAGGGGTTTGAAACCACCAGGAAGCACAGTGAGAACCCGTCTCCACATTTTTTTTTTCTTTTTAATTAGCTTGGCTTGGTGGCACACACATGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAGTTCAAGGCTGCAGAGCTAGGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCCATCACTAAACAACAACAACAACAAATGCTAAGCACTTTACTATGTGCTAGGTGTGGTTTTAGGTGCTGGGAATATAACAAACAAAAGCAGAAACAAAACAGGCAGAAATGTCCTGCCCTTGGAATTTACATTCTAATGGCACTCAAACACAACTAGTATACTCAGACCTGCCAGAGGGGGACCCAGTCTGGGGGCCCAAACACATCTTGGAAACATCAGATGTTCTACATGGACTCTCAGACTCTTACGAAGTCCCAGACCATCCCAGGGACCCCAGAGGTATCCCAGGGGCCCCCAGATCCCTTAGGGACTTCCAGAACCATTGAAAGACTCCTAGACCCAGCTCCACTGCCCTCACAGAACCCTAAGCTAGGAGGCCACTGGAACTCCCTGCTGCAGCCTTCGACACTCGTCTAAGCATCTCTGCCTTTCTGGGGTCTGTGCCTCTGTCTCCCATCTTCTCCCAGGATGGGTGAATTGATAGATGGAATGGTAGGGGTTTGAAGGAAAGACGAATGAATAAATGGGTGGATAGTGATGAAGGAAATGGAGGAAGAGATGGTGGCTTGACTGATGCAGGAGGCTCATTCATCTGTCCCTGTCTGTTTCCCACCTCTGCTGCAGGTGCATGGACATCCTGGAGCTGTCGGAGCGCCTGGACCTGCAGCGCTTCCACTCGCACACCCTGCGCCTCTACCGCGCTGTGTGCGCCCTGGGCAACAATCGCGTGGCGCACGCTCTGTGCAGCCACGTAGACCAAGCTCAGCTGCTGCACGCCCTGGAGGACGCGCACCTGCCAGGCCCACTGCGCGCAGGCTACTATGACCTCCTCATCAGCATCCACCTCGAAAGTGCCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCTCACGCCTGAGACCCGCGCCATCACGCTCTTCCCTCCTGGAAGGAGCACAGAAAATGGTCACCCCCGGCATGGCCTGCCGGGAGTTGGAGTCACCACTTCGCTGAGGCCCCCGCATCATTTCTCGCCCCCCTGTTTCGTGGCCGCTCTGCCAGCTGCTGGGGCAGCAGAGGCCCCGGCCCGCCTCAGCCCTGCCATCCCGCTGGAGGCCCTGCGGGACAAGGCACTGAGGATGCTGGGGGAGGCGGTGCGCGACGGTGGGCAGCACGCTCGCGACCCCGTCGGGGGCTCCGTGGAGTTCCAGTTTGTGCCTGTGCTCAAGCTCGTGTCCACCCTGCTGGTAATGGCTTCCTCCTGCTTTCCTCTGTCCCATTCTTCTCCCACATTCCCAAAACTCCAGAGATACATGCATCAATCCTCCTCTATTTATGCATCCAACCACCCATTCATTCCCTCCTCTATACATCCATCCACCTTTCTTTTTATTATTATTATTTTTTCGAGACGGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCGAGTAGCGGGGACTACAGGCATGTGCCACCACGCCCCGCTAATATTTGTATTTTCAGTAGAGACTGCTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCCTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCCTCCATCCACCTTTCTATGTATCCTCCCACCATCTCCCTATCTTTCATTCACCTTTCCCTCCATCTGCTCACCTGTCATCTCTTTATGTTTATTCATCTCTTCTTTCTTCCTATTCATCTATCCAACCAACCATCATTCATCCATCCATCAATCCATCAGTCCTCCACCAGCCTTTCCATCCACCCATTCATCCTATCCATTCATGTGTATAGATCATCTTTCCATCAACAAGATCTTTCCATCAACATCTTTCCATCTGCCTTTCTATCCTTTTGTTCTCCACCCACTCCATTCATTCATTCATGTACCCATCTATCCAAGTTTCAATCTATTTGCCCATCCATCTTTTCATTCATTCATACAGCAGTCCATCTACCATTCCATCTGTTCATCTATCCACCTACCCATTTATGTATTAATCTATCTTTCCTTCCGTAGGTCCAATAATCATCTCCTCCCACCTATGCGTCCATCCATACCTACATCCACAGATCCATCCGTTCCTCCAGTTCCCACCTACCCTTCATCCATCCATCCATCTCTCCATTCATATGTACGTACACCCATCCACCTACCCACAAATCCATTTAGCCATCCACACCCATCCATCTACCCGTTCCCTATCCTTCTCTCCATCCCTTGTATCATGTACCCTTTTATTCGTAGACCCATCTAACTATTCATTTATATATCCATCTTTTTGGTTTTGTTTGTGTGTTTGTTTGTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGAAGAGTGCAGTGGAGCAATCTCAAATCACTGCAACCTCCGCTTCCCATGTTCAAGAGATTCTTCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACTTTGTGATCTGCCCACCTCGTCCTCCCAAAGTGCTGGAACTATAGGCGTGAGCCACCGTGTCCAGGCAAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATAATGGCTCACTGTAGCCTCAACCTCCTGGGCTTCAGCAATCCTTCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTG
|
TATGTCCCAGGGGGATTCAGACTCAACGCAGGAGGCTCTACACCATCCCAGTGGACCGCAGGCCCACCCTAAGGGAACCCAGACAATACCCCAAGGACCCAGACCCACTCCACAGGGCCCCAAACCCATCTCAGGGAGCCAGACCCACATCAACACCCCAGGGGGCCCCAAGTACACCCCAGGATCCCTGGACATGATTCAGGGAGGCTTGGATGCACCCTAGAGTCTCTTGGGCATATGCAGGGAGGCTTTAAGAAGAATCCCGTGGATATTTCAAACCCACCCCAGGGGACCCAGACACACCTAGGGCCACAGATGCGTTCACATGGATGGCAGGGTTACTCTTAAGAACTCTGAACGTGGCCAGGCACAGTGCCTCACACCTGTAATCCCAGCACGTTGGGAGGCTGAGGCAGGCAGGTCACCTGAGGTCAGGAGTCTCTACTAAAAATACAAAAATTAGCCAGTTGTGGTGGTGTGCACCCATCGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCATTGAGCTAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATGCCATCTCAAAAAATAGAATTCTGAACGTGGGAGGAATCCCAGACTCACCCAGGAGGCTTCTGACATGCCTCTTTCTTTCTTTCCTTCCTTCCTTCCTCCCTCCTTCCCTCTCTCCTTCCCTTCCTTCCTTCCTTCCCCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCTCTCCCTCCCTCACTTCCTTCCTTTATTCATTCATCCATTCAACAAATAGCTTTGGGTCCCTCCTATGTGCTAGGTAGTATTCCAGGCTGGAGACACCAAGCCCCTGTGAAGTGACATTCTAGTAATGCTTGTACATAACTCAGGATGCTCGGACATGCCCAAAGGGACCCAGGGTCATCCCCAGGGCCCCAGACACACCCGTTTATTAATTTATTCATTCAACAAATATTTATGGGTACAGTGGCTCATGTTTGTAATCTAAGCACTTCAGGAGGCTGAGGAGGAGGGAGGGTTGCTTGAGGCCAGGGGTTTGAAACCACCAGGAAGCACAGTGAGAACCCGTCTCCACATTTTTTTTTTCTTTTTAATTAGCTTGGCTTGGTGGCACACACATGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAGTTCAAGGCTGCAGAGCTAGGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCCATCACTAAACAACAACAACAACAAATGCTAAGCACTTTACTATGTGCTAGGTGTGGTTTTAGGTGCTGGGAATATAACAAACAAAAGCAGAAACAAAACAGGCAGAAATGTCCTGCCCTTGGAATTTACATTCTAATGGCACTCAAACACAACTAGTATACTCAGACCTGCCAGAGGGGGACCCAGTCTGGGGGCCCAAACACATCTTGGAAACATCAGATGTTCTACATGGACTCTCAGACTCTTACGAAGTCCCAGACCATCCCAGGGACCCCAGAGGTATCCCAGGGGCCCCCAGATCCCTTAGGGACTTCCAGAACCATTGAAAGACTCCTAGACCCAGCTCCACTGCCCTCACAGAACCCTAAGCTAGGAGGCCACTGGAACTCCCTGCTGCAGCCTTCGACACTCGTCTAAGCATCTCTGCCTTTCTGGGGTCTGTGCCTCTGTCTCCCATCTTCTCCCAGGATGGGTGAATTGATAGATGGAATGGTAGGGGTTTGAAGGAAAGACGAATGAATAAATGGGTGGATAGTGATGAAGGAAATGGAGGAAGAGATGGTGGCTTGACTGATGCAGGAGGCTCATTCATCTGTCCCTGTCTGTTTCCCACCTCTGCTGCAGGTGCATGGACATCCTGGAGCTGTCGGAGCGCCTGGACCTGCAGCGCTTCCACTCGCACACCCTGCGCCTCTACCGCGCTGTGTGCGCCCTGGGCAACAATCGCGTGGCGCACGCTCTGTGCAGCCACGTAGACCAAGCTCAGGGCTGCACGCCCTGGAGGACGCGCACCTGCCAGGCCCACTGCGCGCAGGCTACTATGACCTCCTCATCAGCATCCACCTCGAAAGTGCCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCTCACGCCTGAGACCCGCGCCATCACGCTCTTCCCTCCTGGAAGGAGCACAGAAAATGGTCACCCCCGGCATGGCCTGCCGGGAGTTGGAGTCACCACTTCGCTGAGGCCCCCGCATCATTTCTCGCCCCCCTGTTTCGTGGCCGCTCTGCCAGCTGCTGGGGCAGCAGAGGCCCCGGCCCGCCTCAGCCCTGCCATCCCGCTGGAGGCCCTGCGGGACAAGGCACTGAGGATGCTGGGGGAGGCGGTGCGCGACGGTGGGCAGCACGCTCGCGACCCCGTCGGGGGCTCCGTGGAGTTCCAGTTTGTGCCTGTGCTCAAGCTCGTGTCCACCCTGCTGGTAATGGCTTCCTCCTGCTTTCCTCTGTCCCATTCTTCTCCCACATTCCCAAAACTCCAGAGATACATGCATCAATCCTCCTCTATTTATGCATCCAACCACCCATTCATTCCCTCCTCTATACATCCATCCACCTTTCTTTTTATTATTATTATTTTTTCGAGACGGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCGAGTAGCGGGGACTACAGGCATGTGCCACCACGCCCCGCTAATATTTGTATTTTCAGTAGAGACTGCTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCCTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCCTCCATCCACCTTTCTATGTATCCTCCCACCATCTCCCTATCTTTCATTCACCTTTCCCTCCATCTGCTCACCTGTCATCTCTTTATGTTTATTCATCTCTTCTTTCTTCCTATTCATCTATCCAACCAACCATCATTCATCCATCCATCAATCCATCAGTCCTCCACCAGCCTTTCCATCCACCCATTCATCCTATCCATTCATGTGTATAGATCATCTTTCCATCAACAAGATCTTTCCATCAACATCTTTCCATCTGCCTTTCTATCCTTTTGTTCTCCACCCACTCCATTCATTCATTCATGTACCCATCTATCCAAGTTTCAATCTATTTGCCCATCCATCTTTTCATTCATTCATACAGCAGTCCATCTACCATTCCATCTGTTCATCTATCCACCTACCCATTTATGTATTAATCTATCTTTCCTTCCGTAGGTCCAATAATCATCTCCTCCCACCTATGCGTCCATCCATACCTACATCCACAGATCCATCCGTTCCTCCAGTTCCCACCTACCCTTCATCCATCCATCCATCTCTCCATTCATATGTACGTACACCCATCCACCTACCCACAAATCCATTTAGCCATCCACACCCATCCATCTACCCGTTCCCTATCCTTCTCTCCATCCCTTGTATCATGTACCCTTTTATTCGTAGACCCATCTAACTATTCATTTATATATCCATCTTTTTGGTTTTGTTTGTGTGTTTGTTTGTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGAAGAGTGCAGTGGAGCAATCTCAAATCACTGCAACCTCCGCTTCCCATGTTCAAGAGATTCTTCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACTTTGTGATCTGCCCACCTCGTCCTCCCAAAGTGCTGGAACTATAGGCGTGAGCCACCGTGTCCAGGCAAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATAATGGCTCACTGTAGCCTCAACCTCCTGGGCTTCAGCAATCCTTCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGN
|
pathogenic
| 303,535 |
Clinical classification of chromosome 19, position 38486099, gene RYR1 (ryanodine receptor 1): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Centronuclear_myopathy', 'RYR1-related_disorder']
|
GCACAGTGCCTCACACCTGTAATCCCAGCACGTTGGGAGGCTGAGGCAGGCAGGTCACCTGAGGTCAGGAGTCTCTACTAAAAATACAAAAATTAGCCAGTTGTGGTGGTGTGCACCCATCGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCATTGAGCTAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATGCCATCTCAAAAAATAGAATTCTGAACGTGGGAGGAATCCCAGACTCACCCAGGAGGCTTCTGACATGCCTCTTTCTTTCTTTCCTTCCTTCCTTCCTCCCTCCTTCCCTCTCTCCTTCCCTTCCTTCCTTCCTTCCCCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCTCTCCCTCCCTCACTTCCTTCCTTTATTCATTCATCCATTCAACAAATAGCTTTGGGTCCCTCCTATGTGCTAGGTAGTATTCCAGGCTGGAGACACCAAGCCCCTGTGAAGTGACATTCTAGTAATGCTTGTACATAACTCAGGATGCTCGGACATGCCCAAAGGGACCCAGGGTCATCCCCAGGGCCCCAGACACACCCGTTTATTAATTTATTCATTCAACAAATATTTATGGGTACAGTGGCTCATGTTTGTAATCTAAGCACTTCAGGAGGCTGAGGAGGAGGGAGGGTTGCTTGAGGCCAGGGGTTTGAAACCACCAGGAAGCACAGTGAGAACCCGTCTCCACATTTTTTTTTTCTTTTTAATTAGCTTGGCTTGGTGGCACACACATGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAGTTCAAGGCTGCAGAGCTAGGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCCATCACTAAACAACAACAACAACAAATGCTAAGCACTTTACTATGTGCTAGGTGTGGTTTTAGGTGCTGGGAATATAACAAACAAAAGCAGAAACAAAACAGGCAGAAATGTCCTGCCCTTGGAATTTACATTCTAATGGCACTCAAACACAACTAGTATACTCAGACCTGCCAGAGGGGGACCCAGTCTGGGGGCCCAAACACATCTTGGAAACATCAGATGTTCTACATGGACTCTCAGACTCTTACGAAGTCCCAGACCATCCCAGGGACCCCAGAGGTATCCCAGGGGCCCCCAGATCCCTTAGGGACTTCCAGAACCATTGAAAGACTCCTAGACCCAGCTCCACTGCCCTCACAGAACCCTAAGCTAGGAGGCCACTGGAACTCCCTGCTGCAGCCTTCGACACTCGTCTAAGCATCTCTGCCTTTCTGGGGTCTGTGCCTCTGTCTCCCATCTTCTCCCAGGATGGGTGAATTGATAGATGGAATGGTAGGGGTTTGAAGGAAAGACGAATGAATAAATGGGTGGATAGTGATGAAGGAAATGGAGGAAGAGATGGTGGCTTGACTGATGCAGGAGGCTCATTCATCTGTCCCTGTCTGTTTCCCACCTCTGCTGCAGGTGCATGGACATCCTGGAGCTGTCGGAGCGCCTGGACCTGCAGCGCTTCCACTCGCACACCCTGCGCCTCTACCGCGCTGTGTGCGCCCTGGGCAACAATCGCGTGGCGCACGCTCTGTGCAGCCACGTAGACCAAGCTCAGCTGCTGCACGCCCTGGAGGACGCGCACCTGCCAGGCCCACTGCGCGCAGGCTACTATGACCTCCTCATCAGCATCCACCTCGAAAGTGCCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCTCACGCCTGAGACCCGCGCCATCACGCTCTTCCCTCCTGGAAGGAGCACAGAAAATGGTCACCCCCGGCATGGCCTGCCGGGAGTTGGAGTCACCACTTCGCTGAGGCCCCCGCATCATTTCTCGCCCCCCTGTTTCGTGGCCGCTCTGCCAGCTGCTGGGGCAGCAGAGGCCCCGGCCCGCCTCAGCCCTGCCATCCCGCTGGAGGCCCTGCGGGACAAGGCACTGAGGATGCTGGGGGAGGCGGTGCGCGACGGTGGGCAGCACGCTCGCGACCCCGTCGGGGGCTCCGTGGAGTTCCAGTTTGTGCCTGTGCTCAAGCTCGTGTCCACCCTGCTGGTAATGGCTTCCTCCTGCTTTCCTCTGTCCCATTCTTCTCCCACATTCCCAAAACTCCAGAGATACATGCATCAATCCTCCTCTATTTATGCATCCAACCACCCATTCATTCCCTCCTCTATACATCCATCCACCTTTCTTTTTATTATTATTATTTTTTCGAGACGGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCGAGTAGCGGGGACTACAGGCATGTGCCACCACGCCCCGCTAATATTTGTATTTTCAGTAGAGACTGCTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCCTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCCTCCATCCACCTTTCTATGTATCCTCCCACCATCTCCCTATCTTTCATTCACCTTTCCCTCCATCTGCTCACCTGTCATCTCTTTATGTTTATTCATCTCTTCTTTCTTCCTATTCATCTATCCAACCAACCATCATTCATCCATCCATCAATCCATCAGTCCTCCACCAGCCTTTCCATCCACCCATTCATCCTATCCATTCATGTGTATAGATCATCTTTCCATCAACAAGATCTTTCCATCAACATCTTTCCATCTGCCTTTCTATCCTTTTGTTCTCCACCCACTCCATTCATTCATTCATGTACCCATCTATCCAAGTTTCAATCTATTTGCCCATCCATCTTTTCATTCATTCATACAGCAGTCCATCTACCATTCCATCTGTTCATCTATCCACCTACCCATTTATGTATTAATCTATCTTTCCTTCCGTAGGTCCAATAATCATCTCCTCCCACCTATGCGTCCATCCATACCTACATCCACAGATCCATCCGTTCCTCCAGTTCCCACCTACCCTTCATCCATCCATCCATCTCTCCATTCATATGTACGTACACCCATCCACCTACCCACAAATCCATTTAGCCATCCACACCCATCCATCTACCCGTTCCCTATCCTTCTCTCCATCCCTTGTATCATGTACCCTTTTATTCGTAGACCCATCTAACTATTCATTTATATATCCATCTTTTTGGTTTTGTTTGTGTGTTTGTTTGTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGAAGAGTGCAGTGGAGCAATCTCAAATCACTGCAACCTCCGCTTCCCATGTTCAAGAGATTCTTCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACTTTGTGATCTGCCCACCTCGTCCTCCCAAAGTGCTGGAACTATAGGCGTGAGCCACCGTGTCCAGGCAAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATAATGGCTCACTGTAGCCTCAACCTCCTGGGCTTCAGCAATCCTTCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGCACTACCATGCCCAGGTAAGTTTTAAATTTTTTGTAGAGGTGGAGTCTCGCTATTTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGCAATTCTCCCACCTTGGCCTCCCAGTGTTAGGATTACAGGCATGAGACGCTCTGCTCAACCTAATTTTGTTTTTATTTATTATTTTTAATTTAATTTTATTTTGTAAGAGACAGGGTAATGCCCAGGCTAGAATGCAGTGGTATGATTGTAGCCCACTGCAGTCTTAAACTCCTGGGTTCAAGTGGTCATCTTGCCTCAGCCTCCCGAAGTACTGTGATTACAGGTGTGAGCCACCACACCTGGCCCCAACTTTTCATACACAAACCTATCCAGCC
|
GCACAGTGCCTCACACCTGTAATCCCAGCACGTTGGGAGGCTGAGGCAGGCAGGTCACCTGAGGTCAGGAGTCTCTACTAAAAATACAAAAATTAGCCAGTTGTGGTGGTGTGCACCCATCGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATTGCTTAAACCCAGGAGGCGGAGGTTGCATTGAGCTAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATGCCATCTCAAAAAATAGAATTCTGAACGTGGGAGGAATCCCAGACTCACCCAGGAGGCTTCTGACATGCCTCTTTCTTTCTTTCCTTCCTTCCTTCCTCCCTCCTTCCCTCTCTCCTTCCCTTCCTTCCTTCCTTCCCCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCTCTCCCTCCCTCACTTCCTTCCTTTATTCATTCATCCATTCAACAAATAGCTTTGGGTCCCTCCTATGTGCTAGGTAGTATTCCAGGCTGGAGACACCAAGCCCCTGTGAAGTGACATTCTAGTAATGCTTGTACATAACTCAGGATGCTCGGACATGCCCAAAGGGACCCAGGGTCATCCCCAGGGCCCCAGACACACCCGTTTATTAATTTATTCATTCAACAAATATTTATGGGTACAGTGGCTCATGTTTGTAATCTAAGCACTTCAGGAGGCTGAGGAGGAGGGAGGGTTGCTTGAGGCCAGGGGTTTGAAACCACCAGGAAGCACAGTGAGAACCCGTCTCCACATTTTTTTTTTCTTTTTAATTAGCTTGGCTTGGTGGCACACACATGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAGTTCAAGGCTGCAGAGCTAGGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCCATCACTAAACAACAACAACAACAAATGCTAAGCACTTTACTATGTGCTAGGTGTGGTTTTAGGTGCTGGGAATATAACAAACAAAAGCAGAAACAAAACAGGCAGAAATGTCCTGCCCTTGGAATTTACATTCTAATGGCACTCAAACACAACTAGTATACTCAGACCTGCCAGAGGGGGACCCAGTCTGGGGGCCCAAACACATCTTGGAAACATCAGATGTTCTACATGGACTCTCAGACTCTTACGAAGTCCCAGACCATCCCAGGGACCCCAGAGGTATCCCAGGGGCCCCCAGATCCCTTAGGGACTTCCAGAACCATTGAAAGACTCCTAGACCCAGCTCCACTGCCCTCACAGAACCCTAAGCTAGGAGGCCACTGGAACTCCCTGCTGCAGCCTTCGACACTCGTCTAAGCATCTCTGCCTTTCTGGGGTCTGTGCCTCTGTCTCCCATCTTCTCCCAGGATGGGTGAATTGATAGATGGAATGGTAGGGGTTTGAAGGAAAGACGAATGAATAAATGGGTGGATAGTGATGAAGGAAATGGAGGAAGAGATGGTGGCTTGACTGATGCAGGAGGCTCATTCATCTGTCCCTGTCTGTTTCCCACCTCTGCTGCAGGTGCATGGACATCCTGGAGCTGTCGGAGCGCCTGGACCTGCAGCGCTTCCACTCGCACACCCTGCGCCTCTACCGCGCTGTGTGCGCCCTGGGCAACAATCGCGTGGCGCACGCTCTGTGCAGCCACGTAGACCAAGCTCAGCTGCTGCACGCCCTGGAGGACGCGCACCTGCCAGGCCCACTGCGCGCAGGCTACTATGACCTCCTCATCAGCATCCACCTCGAAAGTGCCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCTCACGCCTGAGACCCGCGCCATCACGCTCTTCCCTCCTGGAAGGAGCACAGAAAATGGTCACCCCCGGCATGGCCTGCCGGGAGTTGGAGTCACCACTTCGCTGAGGCCCCCGCATCATTTCTCGCCCCCCTGTTTCGTGGCCGCTCTGCCAGCTGCTGGGGCAGCAGAGGCCCCGGCCCGCCTCAGCCCTGCCATCCCGCTGGAGGCCCTGCGGGACAAGGCACTGAGGATGCTGGGGAGGCGGTGCGCGACGGTGGGCAGCACGCTCGCGACCCCGTCGGGGGCTCCGTGGAGTTCCAGTTTGTGCCTGTGCTCAAGCTCGTGTCCACCCTGCTGGTAATGGCTTCCTCCTGCTTTCCTCTGTCCCATTCTTCTCCCACATTCCCAAAACTCCAGAGATACATGCATCAATCCTCCTCTATTTATGCATCCAACCACCCATTCATTCCCTCCTCTATACATCCATCCACCTTTCTTTTTATTATTATTATTTTTTCGAGACGGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCCGAGTAGCGGGGACTACAGGCATGTGCCACCACGCCCCGCTAATATTTGTATTTTCAGTAGAGACTGCTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCCTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCGGCCTCCATCCACCTTTCTATGTATCCTCCCACCATCTCCCTATCTTTCATTCACCTTTCCCTCCATCTGCTCACCTGTCATCTCTTTATGTTTATTCATCTCTTCTTTCTTCCTATTCATCTATCCAACCAACCATCATTCATCCATCCATCAATCCATCAGTCCTCCACCAGCCTTTCCATCCACCCATTCATCCTATCCATTCATGTGTATAGATCATCTTTCCATCAACAAGATCTTTCCATCAACATCTTTCCATCTGCCTTTCTATCCTTTTGTTCTCCACCCACTCCATTCATTCATTCATGTACCCATCTATCCAAGTTTCAATCTATTTGCCCATCCATCTTTTCATTCATTCATACAGCAGTCCATCTACCATTCCATCTGTTCATCTATCCACCTACCCATTTATGTATTAATCTATCTTTCCTTCCGTAGGTCCAATAATCATCTCCTCCCACCTATGCGTCCATCCATACCTACATCCACAGATCCATCCGTTCCTCCAGTTCCCACCTACCCTTCATCCATCCATCCATCTCTCCATTCATATGTACGTACACCCATCCACCTACCCACAAATCCATTTAGCCATCCACACCCATCCATCTACCCGTTCCCTATCCTTCTCTCCATCCCTTGTATCATGTACCCTTTTATTCGTAGACCCATCTAACTATTCATTTATATATCCATCTTTTTGGTTTTGTTTGTGTGTTTGTTTGTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGAAGAGTGCAGTGGAGCAATCTCAAATCACTGCAACCTCCGCTTCCCATGTTCAAGAGATTCTTCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACTTTGTGATCTGCCCACCTCGTCCTCCCAAAGTGCTGGAACTATAGGCGTGAGCCACCGTGTCCAGGCAAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATAATGGCTCACTGTAGCCTCAACCTCCTGGGCTTCAGCAATCCTTCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGCACTACCATGCCCAGGTAAGTTTTAAATTTTTTGTAGAGGTGGAGTCTCGCTATTTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGCAATTCTCCCACCTTGGCCTCCCAGTGTTAGGATTACAGGCATGAGACGCTCTGCTCAACCTAATTTTGTTTTTATTTATTATTTTTAATTTAATTTTATTTTGTAAGAGACAGGGTAATGCCCAGGCTAGAATGCAGTGGTATGATTGTAGCCCACTGCAGTCTTAAACTCCTGGGTTCAAGTGGTCATCTTGCCTCAGCCTCCCGAAGTACTGTGATTACAGGTGTGAGCCACCACACCTGGCCCCAACTTTTCATACACAAACCTATCCAGCCN
|
pathogenic
| 303,560 |
Determine whether the variant at chromosome 19, position 38489293, in gene RYR1 (ryanodine receptor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
TCCATCTACCCGTTCCCTATCCTTCTCTCCATCCCTTGTATCATGTACCCTTTTATTCGTAGACCCATCTAACTATTCATTTATATATCCATCTTTTTGGTTTTGTTTGTGTGTTTGTTTGTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGAAGAGTGCAGTGGAGCAATCTCAAATCACTGCAACCTCCGCTTCCCATGTTCAAGAGATTCTTCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACTTTGTGATCTGCCCACCTCGTCCTCCCAAAGTGCTGGAACTATAGGCGTGAGCCACCGTGTCCAGGCAAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATAATGGCTCACTGTAGCCTCAACCTCCTGGGCTTCAGCAATCCTTCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGCACTACCATGCCCAGGTAAGTTTTAAATTTTTTGTAGAGGTGGAGTCTCGCTATTTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGCAATTCTCCCACCTTGGCCTCCCAGTGTTAGGATTACAGGCATGAGACGCTCTGCTCAACCTAATTTTGTTTTTATTTATTATTTTTAATTTAATTTTATTTTGTAAGAGACAGGGTAATGCCCAGGCTAGAATGCAGTGGTATGATTGTAGCCCACTGCAGTCTTAAACTCCTGGGTTCAAGTGGTCATCTTGCCTCAGCCTCCCGAAGTACTGTGATTACAGGTGTGAGCCACCACACCTGGCCCCAACTTTTCATACACAAACCTATCCAGCCATGTGGCCAACCATCCCCCCACCCTCATGGCTATTCACTAATTTATCTATTTATCCACATATTCATTTACTTCCTCATGCATCTATCAACCCATCCATCACCTACTCACCTACCTATACATCATTTATCCTTCTCTCATCCATCCACCCATCATCTCTTCCTCCATCATTTCCTTCATCTCTCCATCATCATCCACTTATTCATCTTTCCTTCAAACCTCTACCATTCCGACTCGGGATTCATCCAGCCAGCCATCCAATCCTCCCTCCATTCATCCATCTCTCTCTCTCCCCTGCACTCTTCTTCCCTTTCGTCTACTCCCTCTTTACTTCCATATGTTAGCATCTTTTAAACTTTAATTTATTTTGTTTTTGAGACAGACTCTCCGTCTGTCATGCAGGCTGGAGTGCAGTGGCATAATATCAGCTCCCTGCAACCTCTGCCTCCCAGATTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGGCGTGCACCACCACACCCAGCTAATTTTTTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCGCCTCATGTGTTAGCATCTTCATTATGTTGACTGAGAGCTGGTGTATGCTGGGAGCTATGCAGGCGTAGGGTGTGTCCTGGGCCAGAGGACACAGCACATGCTTAGGCTTGGGAGAAAGGACACTCGCCTGTGATGGGAGAGGCACTCATATTTGGGTCTGTGGTCTGGGCTGTGTGGGTGGGACACAGGGTGTGGACCTGGGTGGATCTTAAGGAGGGTGGATGGCAAGGCGGGGGATGCCATTCCTGCTGTGGGAGGAATCGGATCAGCCAATGCAGGAATGATTGGCATGTGCATGAGGGGCAGGTCTGGAGAATGAGGCCAGGGCCTGATGATGGAGGCCTTGCAGGCCACAGTGAAGAACCGAGACTTTGTCCTGTAGGTGATGGGCATCTTTGGCGATGAGGATGTGAAACAGATCTTGAAGATGATTGAGCCTGAGGTCTTCACTGAGGAAGAAGAGGAGGAGGACGAGGAGGAAGAGGGTGAAGAGGAAGATGAGGAGGAGAAGGAGGAGGATGAGGAGGAAACAGCACAGGAAAAGGAAGATGAGGAAAAAGAGGAAGAGGAGGCAGCAGAAGGGGAGAAAGAAGAAGGCTTGGAGGAAGGGCTGCTCCAGATGAAGTTGCCAGAGTCTGTGAAGTTACAGGTGGGCTGCTGCTTCCTGCTTTTCGGCCTCTGTCCATCTGGGCTGGGAGACACAGGGTAGGTGGGATGTGAGTCTGGACTTCGTCCTCAGGCAGTGGGGAGCTGTGGAAATGCATATGGCAGTGAGCAATGCCAACTTGGAAAGATCTCTGTTTTCCATGGAGATGAGACCATGGAGAAGGCAGTCTTTTTTGTTTGTTTTTTGCGACAGAATTTTGCTCTGTCACCCAGGCTGGAATACAGTGGTGCGATCTCGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATCACAGGCATGTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCATGCTTGAGGAAGGCAGGCTTAAGGTTCCAGGCGGGAAATGATTTTGGCTGGACCTGGGCAGGGCCATGGAGAGGGGAGAGGAAGCAAGAGAAGTTTCAAGGAAGTCCTGATGGTCTCACCTCCATCTCTCCTCCCACACGGCTGTCCTTCCACAGATGTGCCACCTGCTGGAGTATTTCTGTGACCAAGAGCTGCAGCACCGTGTGGAGTCCCTGGCAGCCTTTGCGGAGCGCTATGTGGACAAGCTCCAGGCCAACCAGCGGAGCCGCTATGGCCTCCTCATAAAAGCCTTCAGCATGACCGCAGCAGAGACTGCAAGACGTACCCGCGAGTTCCGCTCCCCACCCCAGGAACAGGTCATCTGACCCCTGACGCTGGCCACTTTTACTGTCTAAACCCCAACCTCAACATCTCCTGACTCTGATCACTGAGGACCCTCAACCTCTAAACCCGTGCTTGACCCCTGACCCTAGTGATACATTTATCTCCTACTCTCTGAATCAACCTGACCTCTGAGTCACCTCAGACTGATGCTGACTCTTTTCAAACCTCTGGCCCTAGTCTCCCAAATAGTCTTCATTAACTCACACTTCGACTCATGACCTTAGACATGGACTAACAATTGCATCTTCTATCTCTGATCTCAGAGTTCCTGCTTTGGGATCTCAGACCCTCATTCTAATCTTTGACCTTCCCCTAGATCAATATGCTATTGCAATTCAAAGATGGTACAGATGAGGAAGACTGTCCTCTCCCTGAAGAGATTCGACAGGATTTGCTTGACTTTCATCAAGACCTGCTGGCACACTGTGGTAAGGAGTGGGGATCAGAGAGTCCTCCCCATGCTAACTTTCTCTCGAGACCTCTCCAGAAGTTTCCCTAAGATTTCCTGACAACCCTCTACAGTATCGGTGCTATGTAACTATTGGTTGAATGAATGAATGAGTGAGTGAATGAATGTGTTAGTGAACAGTTAGACAATGCGTGTTTATATGGGTATTTGGGTGGATGGCTATAAGCCAGATAAATGAATGGGTATGTGAATTGATGGATAGAAGAAGTGGGTAAAAAATGGCTGGCTGGATAGATGGAAGGATGAAGAGAAGGATGGATGGATGGTTGAGAACTGGGTGGAGAGATGGCTGGCTGGGTGGAAGGACAGATGGATGACCTCCATAGTTTCTGATGAGAAGTCTGCTGATAGTCTTACTGAGATTCCCTTGCACATGATGAATTATTTTTCCTTGGCTGACTTTTAAGATTTTCTCTTTGTCTTTGCCTTTCAACAATTTAGTATGACGTGTCTAGGTGTAGAGCTCTTTGAATTTATCCTGTTGAAAGTTTGTTGAGTTTCTTGGATATATACTTACTTTTTATCAAAGTTGGAATATTTTTGACAATTATTTATTCAAATACTTTT
|
TCCATCTACCCGTTCCCTATCCTTCTCTCCATCCCTTGTATCATGTACCCTTTTATTCGTAGACCCATCTAACTATTCATTTATATATCCATCTTTTTGGTTTTGTTTGTGTGTTTGTTTGTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGAAGAGTGCAGTGGAGCAATCTCAAATCACTGCAACCTCCGCTTCCCATGTTCAAGAGATTCTTCTGCCTCAGCCTCCCAAGTAGATGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACTTTGTGATCTGCCCACCTCGTCCTCCCAAAGTGCTGGAACTATAGGCGTGAGCCACCGTGTCCAGGCAAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATAATGGCTCACTGTAGCCTCAACCTCCTGGGCTTCAGCAATCCTTCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGCACTACCATGCCCAGGTAAGTTTTAAATTTTTTGTAGAGGTGGAGTCTCGCTATTTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGCAATTCTCCCACCTTGGCCTCCCAGTGTTAGGATTACAGGCATGAGACGCTCTGCTCAACCTAATTTTGTTTTTATTTATTATTTTTAATTTAATTTTATTTTGTAAGAGACAGGGTAATGCCCAGGCTAGAATGCAGTGGTATGATTGTAGCCCACTGCAGTCTTAAACTCCTGGGTTCAAGTGGTCATCTTGCCTCAGCCTCCCGAAGTACTGTGATTACAGGTGTGAGCCACCACACCTGGCCCCAACTTTTCATACACAAACCTATCCAGCCATGTGGCCAACCATCCCCCCACCCTCATGGCTATTCACTAATTTATCTATTTATCCACATATTCATTTACTTCCTCATGCATCTATCAACCCATCCATCACCTACTCACCTACCTATACATCATTTATCCTTCTCTCATCCATCCACCCATCATCTCTTCCTCCATCATTTCCTTCATCTCTCCATCATCATCCACTTATTCATCTTTCCTTCAAACCTCTACCATTCCGACTCGGGATTCATCCAGCCAGCCATCCAATCCTCCCTCCATTCATCCATCTCTCTCTCTCCCCTGCACTCTTCTTCCCTTTCGTCTACTCCCTCTTTACTTCCATATGTTAGCATCTTTTAAACTTTAATTTATTTTGTTTTTGAGACAGACTCTCCGTCTGTCATGCAGGCTGGAGTGCAGTGGCATAATATCAGCTCCCTGCAACCTCTGCCTCCCAGATTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGGCGTGCACCACCACACCCAGCTAATTTTTTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCGCCTCATGTGTTAGCATCTTCATTATGTTGACTGAGAGCTGGTGTATGCTGGGAGCTATGCAGGCGTAGGGTGTGTCCTGGGCCAGAGGACACAGCACATGCTTAGGCTTGGGAGAAAGGACACTCGCCTGTGATGGGAGAGGCACTCATATTTGGGTCTGTGGTCTGGGCTGTGTGGGTGGGACACAGGGTGTGGACCTGGGTGGATCTTAAGGAGGGTGGATGGCAAGGCGGGGGATGCCATTCCTGCTGTGGGAGGAATCGGATCAGCCAATGCAGGAATGATTGGCATGTGCATGAGGGGCAGGTCTGGAGAATGAGGCCAGGGCCTGATGATGGAGGCCTTGCAGGCCACAGTGAAGAACCGAGACTTTGTCCTGTAGGTGATGGGCATCTTTGGCGATGAGGATGTGAAACAGATCTTGAAGATGATTGAGCCTGAGGTCTTCACTGAGGAAGAAGAGGAGGAGGACGAGGAGGAAGAGGGTGAAGAGGAAGATGAGGAGAAGGAGGAGGATGAGGAGGAAACAGCACAGGAAAAGGAAGATGAGGAAAAAGAGGAAGAGGAGGCAGCAGAAGGGGAGAAAGAAGAAGGCTTGGAGGAAGGGCTGCTCCAGATGAAGTTGCCAGAGTCTGTGAAGTTACAGGTGGGCTGCTGCTTCCTGCTTTTCGGCCTCTGTCCATCTGGGCTGGGAGACACAGGGTAGGTGGGATGTGAGTCTGGACTTCGTCCTCAGGCAGTGGGGAGCTGTGGAAATGCATATGGCAGTGAGCAATGCCAACTTGGAAAGATCTCTGTTTTCCATGGAGATGAGACCATGGAGAAGGCAGTCTTTTTTGTTTGTTTTTTGCGACAGAATTTTGCTCTGTCACCCAGGCTGGAATACAGTGGTGCGATCTCGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATCACAGGCATGTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCATGCTTGAGGAAGGCAGGCTTAAGGTTCCAGGCGGGAAATGATTTTGGCTGGACCTGGGCAGGGCCATGGAGAGGGGAGAGGAAGCAAGAGAAGTTTCAAGGAAGTCCTGATGGTCTCACCTCCATCTCTCCTCCCACACGGCTGTCCTTCCACAGATGTGCCACCTGCTGGAGTATTTCTGTGACCAAGAGCTGCAGCACCGTGTGGAGTCCCTGGCAGCCTTTGCGGAGCGCTATGTGGACAAGCTCCAGGCCAACCAGCGGAGCCGCTATGGCCTCCTCATAAAAGCCTTCAGCATGACCGCAGCAGAGACTGCAAGACGTACCCGCGAGTTCCGCTCCCCACCCCAGGAACAGGTCATCTGACCCCTGACGCTGGCCACTTTTACTGTCTAAACCCCAACCTCAACATCTCCTGACTCTGATCACTGAGGACCCTCAACCTCTAAACCCGTGCTTGACCCCTGACCCTAGTGATACATTTATCTCCTACTCTCTGAATCAACCTGACCTCTGAGTCACCTCAGACTGATGCTGACTCTTTTCAAACCTCTGGCCCTAGTCTCCCAAATAGTCTTCATTAACTCACACTTCGACTCATGACCTTAGACATGGACTAACAATTGCATCTTCTATCTCTGATCTCAGAGTTCCTGCTTTGGGATCTCAGACCCTCATTCTAATCTTTGACCTTCCCCTAGATCAATATGCTATTGCAATTCAAAGATGGTACAGATGAGGAAGACTGTCCTCTCCCTGAAGAGATTCGACAGGATTTGCTTGACTTTCATCAAGACCTGCTGGCACACTGTGGTAAGGAGTGGGGATCAGAGAGTCCTCCCCATGCTAACTTTCTCTCGAGACCTCTCCAGAAGTTTCCCTAAGATTTCCTGACAACCCTCTACAGTATCGGTGCTATGTAACTATTGGTTGAATGAATGAATGAGTGAGTGAATGAATGTGTTAGTGAACAGTTAGACAATGCGTGTTTATATGGGTATTTGGGTGGATGGCTATAAGCCAGATAAATGAATGGGTATGTGAATTGATGGATAGAAGAAGTGGGTAAAAAATGGCTGGCTGGATAGATGGAAGGATGAAGAGAAGGATGGATGGATGGTTGAGAACTGGGTGGAGAGATGGCTGGCTGGGTGGAAGGACAGATGGATGACCTCCATAGTTTCTGATGAGAAGTCTGCTGATAGTCTTACTGAGATTCCCTTGCACATGATGAATTATTTTTCCTTGGCTGACTTTTAAGATTTTCTCTTTGTCTTTGCCTTTCAACAATTTAGTATGACGTGTCTAGGTGTAGAGCTCTTTGAATTTATCCTGTTGAAAGTTTGTTGAGTTTCTTGGATATATACTTACTTTTTATCAAAGTTGGAATATTTTTGACAATTATTTATTCAAATACTTTTNNN
|
benign
| 303,574 |
For chromosome 19, position 38496852, gene RYR1 (ryanodine receptor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Centronuclear_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder']
|
AGCAGCTCCGCTTCTGTGTGACTCTCAGCAGGACATTCCCCACCCCCCCCTTTTTTTTTTTTTTTGTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCATACCAGGCTAATTTTTTATATTTAGTAGAGACAGGGTTTCACCATGTTGATCAGACTAGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACGTGAGCCACCACACCCAGCTGAGGTTTACCCTTTTTGAGCTTCAGTTTCCTCATCTGTAAAACCGGGGAGAGCCAAGCCTACTCTGAAGGGTTGTGCTGTGGCTTCAGTGAGCTCATGCGAATAATAATAATTATGGTAGCAGTATTGAGCACTCATTGTCAAATAAATCTCATTCACACAGTAAACATTTATTAAGCACCTACTTCGTGCCAGGCATTTCTAGGTGTTTTTGAGACAGGGCCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCCCAATCACAGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCGATCCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGACACACACCACCATACCCAGCTAATTTGTAAATTTTTTTGTAGAGGTAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGGACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGGGCTGGAATTACAAGGCAAAAGCCACCATGCTGGGACAACATTTGACAAAGGGCAACATGGCAAAGATCTCTGCCCTAGAGGAGCCTGCCTTGGGTGCACGCCTCAGTCTCCTTATGAGGGAAACAGGGACCCTTCCTCCCACAGTGGCTGTAGGAATTTTTTTTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCAAGCCTGGAGTGCGCAATGTCTGCTCACTGCAACCTCCGCATACCGGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGCGTAGCTGGGATTACGGGTATGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGATCTCGATCTCCTGACCTCAAGTGATCCTCTAGCTTCGGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACCGCACCCGGCCAGCTGTAGGAATTGAGTGAGTTCAGATCTGTAAAGGCGGTGGTGCTAGGCACAGAGTGAGAGGGTCAAGAATGCCAACGCTGTCACAGTGGTGGCTATGGCCCTCTCCGGACCTGGGCCCCTGGTGACCCCGCACACTCTGCCCGTGCACAGGAACATCATGAACAACAAAGTCTTCTACCAACACCCGAACCTGATGAGGGCGCTGGGCATGCACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCCAAGGTGAGGGCCCAGGCAGGTGCTGGGGAGCTCAGGGGAGGCAGCCACAGAGGGCAGGCCCTGACCACCCTGCCTGTCCCAGGAGATCCGCTTCCCCAAGATGGTGACAAGCTGCTGCCGCTTCCTCTGCTATTTCTGCCGAATCAGCCGGCAGAACCAGCGCTCCATGTTTGACCACCTGAGCTACCTGCTGGAGAACAGTGGCATCGGCCTGGGTGAGAACCCCCGAGCCCAGGGGCTGTCCCCCAGAACCCACTCCTGGCACCCCGTCCAGGCCTGCCCCACTTTCCACCAGCTCACTCATTCAACAAACACTCCCTCTCAACTGTGGTTCTGGCCCTGTAATGAGTAATGCTGGGGACACAATAGTGACCCCAATAGTGACAGCCCAGAGTGGTCAGAGCTTGGATGAGGGAAGTACAGACCAGAGGAGGCACCTGATCCAGGCTGGAAAAAGGGTGGTCAGGGAGGGCTTCCCAGAGGAGGCGAGACAAGCAGGAGTGAGATGTTCTCCCCACCTCTCGCCCCTGCAGGCATGCAGGGCTCCACGCCCCTGGACGTGGCTGCTGCCTCCGTCATTGACAACAATGAGCTGGCCTTGGCATTGCAGGAGCAGGACCTGGAAAAGGTGTGGAGGGCAGGGCTGGGCCCCAGGCCTAAGGGAGGAAATCGGGCCGCTACCCGGCTGCTTGGGACACCTGCTGATTCCAAACTCATTCTGGGGGGCAATTCTGGATGGTCCAGTGCCCAACCAGAAGGAGACTAATTTGCAGGGAGAGAACGGCACCCAGTTGTTCATTCATGGGATGCTTCCTGGCTGTGGGCCGGTCCGCACTCCACGCTTCCCGTCTGGGGGCAGGTCCACAGTCTACGCTTCCGGGATGGGGGCGGATCCGCACTCTAACTTCCAGGCTGGGGGCGGATCCGCAGTCTACACTTCCGGGCTGGGGGCGGATCCGCACGCTACGCTTCCGGGTTGGGGGCCGATCCACAGTCTAGGCTTCCAGCCAGGTGGCCTTGGCACATTTCTTCGCTCTCCGAGCTTCCACTTCTGTGTACAGTGGTGAAATGCGTGGGCTCCAGACTTCAGCAACTTTGCTTCTGCTCCCCTCGCTCCCTGGCTGTGTGGCCTTGGATAAGTGACTTAGACTCTCCAGACCCCTGTTGTCTCATCTGTACAATGAATGTAGTCATAGAAACGACTTCATGGAGTCATTCTGAGGATTAAATGAATTAATCCAGTAAAGTGTTTGTAAAGGGGCAGTCAGTAACGTTAGCTGCTGTTATATTATCATTCAACAAATATGTAGTGTTAGCTTACCATATGCAAAGCAGTAGCAATATGACAGTCAAAAATCCCTGTCTGGCCAGGCAAAGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTAAGCTCAGGAGTTTAAGACCAGCCTGGACAATATAGGGACACCTTGTCTCTACAAAAAATACAAAAAGTAGGTGGGTGTAGTGGCACGTAACTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTTGATAGAGCCTGCGAGGCTGAGGCTGCAGTGAGCTATGGTCACACCACTGCACTTCACCTCAGGGACAGAGCGAGACCCCTTAAAAAAAAAAGTGGCCAGAGAAAGCCTCATTGAGAAAGTGACATTTGTGTAAAGCTCTGAAGGAAGGTGACAGGTCAGGTGGTCATCATGGGGAAGAGCATTCTAGGCAGCGGGAACAGCCAGTGCAAAGGCCCTGAGGCAGGAGCAAACCTCATAAGCTGGAGGAACAGCAGAAAGACAGCTGTGGCTGGAGCAGAGGTAGTGAGGGTGAGGGCAGGAGGTGACAGGTGGGTCATGTGGCATCTCATCGGTCACAACAAGGGCTCTGGCTTTTACCCTGAGTGAGAGGAGGCCAGGATTCTGAGCAGAGGAGGGACGTGACCTGACTCAGGTGTTCACAGGGTCCCTCTGGCTGTGTGTGGGGAACAGATTGAGGGGAAGGCAGAAGGACAGAAGGACAGGGAGGAGGCTCGTGTTGTGGTCCAGGTGGGAGACAAGGGTGGACAGAACCGCTACAGGAAAGGGGTCTGGATCCAGGCCCAAAGAGAAGGTTCTTGGATCTCATGTAAGAAAGAATTCAGGGCAACTCCATAGAGTAAAGTGAAAGCAAGTTTATTAGGAAAGTAAAGGAATAAAAGAATGGCTAATCCATAGACAGAGCAGCCCCAAGGGCTGCTGGTTGCCCATTTTTATGTTATTTCTTGATGATATGCTGTTTAGCATAACAAGGGGTGGATTATTCATGCCTCCCCTTTCTAAACCATGTAGGGTAACTTTCTGATATTGCCATGACATTTGTAAACTGTCGTGGCGCTGGTGGGAGTGCAGCAGTGAGGATGACCAGAGGTCACTCTCGTTGCCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGG
|
AGCAGCTCCGCTTCTGTGTGACTCTCAGCAGGACATTCCCCACCCCCCCCTTTTTTTTTTTTTTTGTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCATACCAGGCTAATTTTTTATATTTAGTAGAGACAGGGTTTCACCATGTTGATCAGACTAGTCTCGAACTCCTAACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACGTGAGCCACCACACCCAGCTGAGGTTTACCCTTTTTGAGCTTCAGTTTCCTCATCTGTAAAACCGGGGAGAGCCAAGCCTACTCTGAAGGGTTGTGCTGTGGCTTCAGTGAGCTCATGCGAATAATAATAATTATGGTAGCAGTATTGAGCACTCATTGTCAAATAAATCTCATTCACACAGTAAACATTTATTAAGCACCTACTTCGTGCCAGGCATTTCTAGGTGTTTTTGAGACAGGGCCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCCCAATCACAGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCGATCCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGACACACACCACCATACCCAGCTAATTTGTAAATTTTTTTGTAGAGGTAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGGACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGGGCTGGAATTACAAGGCAAAAGCCACCATGCTGGGACAACATTTGACAAAGGGCAACATGGCAAAGATCTCTGCCCTAGAGGAGCCTGCCTTGGGTGCACGCCTCAGTCTCCTTATGAGGGAAACAGGGACCCTTCCTCCCACAGTGGCTGTAGGAATTTTTTTTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCAAGCCTGGAGTGCGCAATGTCTGCTCACTGCAACCTCCGCATACCGGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGCGTAGCTGGGATTACGGGTATGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGATCTCGATCTCCTGACCTCAAGTGATCCTCTAGCTTCGGCCTCCCAAAGTGCTGGGATTACACGCATGAGCCACCGCACCCGGCCAGCTGTAGGAATTGAGTGAGTTCAGATCTGTAAAGGCGGTGGTGCTAGGCACAGAGTGAGAGGGTCAAGAATGCCAACGCTGTCACAGTGGTGGCTATGGCCCTCTCCGGACCTGGGCCCCTGGTGACCCCGCACACTCTGCCCGTGCACAGGAACATCATGAACAACAAAGTCTTCTACCAACACCCGAACCTGATGAGGGCGCTGGGCATGCACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCCAAGGTGAGGGCCCAGGCAGGTGCTGGGGAGCTCAGGGGAGGCAGCCACAGAGGGCAGGCCCTGACCACCCTGCCTGTCCCAGGAGATCCGCTTCCCCAAGATGGTGACAAGCTGCTGCCGCTTCCTCTGCTATTTCTGCCGAATCAGCCGGCAGAACCAGCGCTCCATGTTTGACCACCTGAGCTACCTGCTGGAGAACAGTGGCATCGGCCTGGGTGAGAACCCCCGAGCCCAGGGGCTGTCCCCCAGAACCCACTCCTGGCACCCCGTCCAGGCCTGCCCCACTTTCCACCAGCTCACTCATTCAACAAACACTCCCTCTCAACTGTGGTTCTGGCCCTGTAATGAGTAATGCTGGGGACACAATAGTGACCCCAATAGTGACAGCCCAGAGTGGTCAGAGCTTGGATGAGGGAAGTACAGACCAGAGGAGGCACCTGATCCAGGCTGGAAAAAGGGTGGTCAGGGAGGGCTTCCCAGAGGAGGCGAGACAAGCAGGAGTGAGATGTTCTCCCCACCTCTCGCCCATGCAGGGCTCCACGCCCCTGGACGTGGCTGCTGCCTCCGTCATTGACAACAATGAGCTGGCCTTGGCATTGCAGGAGCAGGACCTGGAAAAGGTGTGGAGGGCAGGGCTGGGCCCCAGGCCTAAGGGAGGAAATCGGGCCGCTACCCGGCTGCTTGGGACACCTGCTGATTCCAAACTCATTCTGGGGGGCAATTCTGGATGGTCCAGTGCCCAACCAGAAGGAGACTAATTTGCAGGGAGAGAACGGCACCCAGTTGTTCATTCATGGGATGCTTCCTGGCTGTGGGCCGGTCCGCACTCCACGCTTCCCGTCTGGGGGCAGGTCCACAGTCTACGCTTCCGGGATGGGGGCGGATCCGCACTCTAACTTCCAGGCTGGGGGCGGATCCGCAGTCTACACTTCCGGGCTGGGGGCGGATCCGCACGCTACGCTTCCGGGTTGGGGGCCGATCCACAGTCTAGGCTTCCAGCCAGGTGGCCTTGGCACATTTCTTCGCTCTCCGAGCTTCCACTTCTGTGTACAGTGGTGAAATGCGTGGGCTCCAGACTTCAGCAACTTTGCTTCTGCTCCCCTCGCTCCCTGGCTGTGTGGCCTTGGATAAGTGACTTAGACTCTCCAGACCCCTGTTGTCTCATCTGTACAATGAATGTAGTCATAGAAACGACTTCATGGAGTCATTCTGAGGATTAAATGAATTAATCCAGTAAAGTGTTTGTAAAGGGGCAGTCAGTAACGTTAGCTGCTGTTATATTATCATTCAACAAATATGTAGTGTTAGCTTACCATATGCAAAGCAGTAGCAATATGACAGTCAAAAATCCCTGTCTGGCCAGGCAAAGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTAAGCTCAGGAGTTTAAGACCAGCCTGGACAATATAGGGACACCTTGTCTCTACAAAAAATACAAAAAGTAGGTGGGTGTAGTGGCACGTAACTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTTGATAGAGCCTGCGAGGCTGAGGCTGCAGTGAGCTATGGTCACACCACTGCACTTCACCTCAGGGACAGAGCGAGACCCCTTAAAAAAAAAAGTGGCCAGAGAAAGCCTCATTGAGAAAGTGACATTTGTGTAAAGCTCTGAAGGAAGGTGACAGGTCAGGTGGTCATCATGGGGAAGAGCATTCTAGGCAGCGGGAACAGCCAGTGCAAAGGCCCTGAGGCAGGAGCAAACCTCATAAGCTGGAGGAACAGCAGAAAGACAGCTGTGGCTGGAGCAGAGGTAGTGAGGGTGAGGGCAGGAGGTGACAGGTGGGTCATGTGGCATCTCATCGGTCACAACAAGGGCTCTGGCTTTTACCCTGAGTGAGAGGAGGCCAGGATTCTGAGCAGAGGAGGGACGTGACCTGACTCAGGTGTTCACAGGGTCCCTCTGGCTGTGTGTGGGGAACAGATTGAGGGGAAGGCAGAAGGACAGAAGGACAGGGAGGAGGCTCGTGTTGTGGTCCAGGTGGGAGACAAGGGTGGACAGAACCGCTACAGGAAAGGGGTCTGGATCCAGGCCCAAAGAGAAGGTTCTTGGATCTCATGTAAGAAAGAATTCAGGGCAACTCCATAGAGTAAAGTGAAAGCAAGTTTATTAGGAAAGTAAAGGAATAAAAGAATGGCTAATCCATAGACAGAGCAGCCCCAAGGGCTGCTGGTTGCCCATTTTTATGTTATTTCTTGATGATATGCTGTTTAGCATAACAAGGGGTGGATTATTCATGCCTCCCCTTTCTAAACCATGTAGGGTAACTTTCTGATATTGCCATGACATTTGTAAACTGTCGTGGCGCTGGTGGGAGTGCAGCAGTGAGGATGACCAGAGGTCACTCTCGTTGCCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGNNNNNNNN
|
pathogenic
| 303,662 |
Gene RYR1 (ryanodine receptor 1) variant at chromosome position 38499145 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['RYR1-related_disorder']
|
CAGGGAGAGAACGGCACCCAGTTGTTCATTCATGGGATGCTTCCTGGCTGTGGGCCGGTCCGCACTCCACGCTTCCCGTCTGGGGGCAGGTCCACAGTCTACGCTTCCGGGATGGGGGCGGATCCGCACTCTAACTTCCAGGCTGGGGGCGGATCCGCAGTCTACACTTCCGGGCTGGGGGCGGATCCGCACGCTACGCTTCCGGGTTGGGGGCCGATCCACAGTCTAGGCTTCCAGCCAGGTGGCCTTGGCACATTTCTTCGCTCTCCGAGCTTCCACTTCTGTGTACAGTGGTGAAATGCGTGGGCTCCAGACTTCAGCAACTTTGCTTCTGCTCCCCTCGCTCCCTGGCTGTGTGGCCTTGGATAAGTGACTTAGACTCTCCAGACCCCTGTTGTCTCATCTGTACAATGAATGTAGTCATAGAAACGACTTCATGGAGTCATTCTGAGGATTAAATGAATTAATCCAGTAAAGTGTTTGTAAAGGGGCAGTCAGTAACGTTAGCTGCTGTTATATTATCATTCAACAAATATGTAGTGTTAGCTTACCATATGCAAAGCAGTAGCAATATGACAGTCAAAAATCCCTGTCTGGCCAGGCAAAGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTAAGCTCAGGAGTTTAAGACCAGCCTGGACAATATAGGGACACCTTGTCTCTACAAAAAATACAAAAAGTAGGTGGGTGTAGTGGCACGTAACTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTTGATAGAGCCTGCGAGGCTGAGGCTGCAGTGAGCTATGGTCACACCACTGCACTTCACCTCAGGGACAGAGCGAGACCCCTTAAAAAAAAAAGTGGCCAGAGAAAGCCTCATTGAGAAAGTGACATTTGTGTAAAGCTCTGAAGGAAGGTGACAGGTCAGGTGGTCATCATGGGGAAGAGCATTCTAGGCAGCGGGAACAGCCAGTGCAAAGGCCCTGAGGCAGGAGCAAACCTCATAAGCTGGAGGAACAGCAGAAAGACAGCTGTGGCTGGAGCAGAGGTAGTGAGGGTGAGGGCAGGAGGTGACAGGTGGGTCATGTGGCATCTCATCGGTCACAACAAGGGCTCTGGCTTTTACCCTGAGTGAGAGGAGGCCAGGATTCTGAGCAGAGGAGGGACGTGACCTGACTCAGGTGTTCACAGGGTCCCTCTGGCTGTGTGTGGGGAACAGATTGAGGGGAAGGCAGAAGGACAGAAGGACAGGGAGGAGGCTCGTGTTGTGGTCCAGGTGGGAGACAAGGGTGGACAGAACCGCTACAGGAAAGGGGTCTGGATCCAGGCCCAAAGAGAAGGTTCTTGGATCTCATGTAAGAAAGAATTCAGGGCAACTCCATAGAGTAAAGTGAAAGCAAGTTTATTAGGAAAGTAAAGGAATAAAAGAATGGCTAATCCATAGACAGAGCAGCCCCAAGGGCTGCTGGTTGCCCATTTTTATGTTATTTCTTGATGATATGCTGTTTAGCATAACAAGGGGTGGATTATTCATGCCTCCCCTTTCTAAACCATGTAGGGTAACTTTCTGATATTGCCATGACATTTGTAAACTGTCGTGGCGCTGGTGGGAGTGCAGCAGTGAGGATGACCAGAGGTCACTCTCGTTGCCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCTGACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCCCCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCCAGGTTGTGTCCTACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCATGCTTGTGGCCAAAGGGTACCCAGACATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTCGTCAACGGTGAGGAGGGGGTGGCAGTGGCAGAGCGGGAAGTATGGAGTCACTGGTCACACACCTCCCTCGAGATGACTGCTCGCACCCTGAGCCACAGATGGGGTCCAGGCAGGAATCCCTTCCAGCAGGCCTGGGGCTGGCAGGGGCCTGTGTTACCCCTGGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGTCCTGGGGCTGGCAGGGGCCTGGTGTTACCTCTGGAGGTGTTGGGTCCTGGAGCTGGATGGGACCTGTGTTACCCCTGGAGGTGTTGGGTCCTGGGGCTGCATGGGGAGGTCTCTGATGGTGGCTCATGAGACCCCCTTTCCCCATGCGGGTGGCCAGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGCAGCTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGACCCTGAGCCAGGGCAGGATGGGAAGGGAGGGCAGGCACAGCCGCTTTGAACGCCTCATGCAGGCACTCGGTGACACGGAGTGAGCTCCCATATGTGGGTGGTCCTGGACTAGCAATGTTGGGGACACAACAGTGACCAAGACAGCCCCAGGGCCTGGTCTCACAGAGCTCCCAGTCCAATGGGGGAGACGGACAGTGACACCCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGAAGAGGGGTCGGGGCTGGGATTGCAGGGCACACGGAGAGGACTCAGGATGGGGATGGGGAACACAGGGAGAGGGGTCAGGATGGGGATGGGGTCACAGGGATAGGGGTCGGGGCCAGGATGAGGGGTCGCAGGGAGAGGGGTCAGGATGAGGTTGGGGGGAACAAGGAGAGAGGTCGGGACTGGGGTGGGGGGGCACAGGCAGAGGAACGAGGGCTGGAAACTCTAGACAGCCTCCTGAGAAAGAGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCACCAGCGCCTGATGAGTGCCCCTCTCCCTCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGAACTTGGCGAAGGAGTGATGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCAGCCTGGCCACCCTCCCCACTTCCACAGAGGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTTCTTGGGATTGTGGACATATCATAATCCCCAATACCATCATCAAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAGTAGGAATCTCCAAGACCT
|
CAGGGAGAGAACGGCACCCAGTTGTTCATTCATGGGATGCTTCCTGGCTGTGGGCCGGTCCGCACTCCACGCTTCCCGTCTGGGGGCAGGTCCACAGTCTACGCTTCCGGGATGGGGGCGGATCCGCACTCTAACTTCCAGGCTGGGGGCGGATCCGCAGTCTACACTTCCGGGCTGGGGGCGGATCCGCACGCTACGCTTCCGGGTTGGGGGCCGATCCACAGTCTAGGCTTCCAGCCAGGTGGCCTTGGCACATTTCTTCGCTCTCCGAGCTTCCACTTCTGTGTACAGTGGTGAAATGCGTGGGCTCCAGACTTCAGCAACTTTGCTTCTGCTCCCCTCGCTCCCTGGCTGTGTGGCCTTGGATAAGTGACTTAGACTCTCCAGACCCCTGTTGTCTCATCTGTACAATGAATGTAGTCATAGAAACGACTTCATGGAGTCATTCTGAGGATTAAATGAATTAATCCAGTAAAGTGTTTGTAAAGGGGCAGTCAGTAACGTTAGCTGCTGTTATATTATCATTCAACAAATATGTAGTGTTAGCTTACCATATGCAAAGCAGTAGCAATATGACAGTCAAAAATCCCTGTCTGGCCAGGCAAAGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTAAGCTCAGGAGTTTAAGACCAGCCTGGACAATATAGGGACACCTTGTCTCTACAAAAAATACAAAAAGTAGGTGGGTGTAGTGGCACGTAACTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTTGATAGAGCCTGCGAGGCTGAGGCTGCAGTGAGCTATGGTCACACCACTGCACTTCACCTCAGGGACAGAGCGAGACCCCTTAAAAAAAAAAGTGGCCAGAGAAAGCCTCATTGAGAAAGTGACATTTGTGTAAAGCTCTGAAGGAAGGTGACAGGTCAGGTGGTCATCATGGGGAAGAGCATTCTAGGCAGCGGGAACAGCCAGTGCAAAGGCCCTGAGGCAGGAGCAAACCTCATAAGCTGGAGGAACAGCAGAAAGACAGCTGTGGCTGGAGCAGAGGTAGTGAGGGTGAGGGCAGGAGGTGACAGGTGGGTCATGTGGCATCTCATCGGTCACAACAAGGGCTCTGGCTTTTACCCTGAGTGAGAGGAGGCCAGGATTCTGAGCAGAGGAGGGACGTGACCTGACTCAGGTGTTCACAGGGTCCCTCTGGCTGTGTGTGGGGAACAGATTGAGGGGAAGGCAGAAGGACAGAAGGACAGGGAGGAGGCTCGTGTTGTGGTCCAGGTGGGAGACAAGGGTGGACAGAACCGCTACAGGAAAGGGGTCTGGATCCAGGCCCAAAGAGAAGGTTCTTGGATCTCATGTAAGAAAGAATTCAGGGCAACTCCATAGAGTAAAGTGAAAGCAAGTTTATTAGGAAAGTAAAGGAATAAAAGAATGGCTAATCCATAGACAGAGCAGCCCCAAGGGCTGCTGGTTGCCCATTTTTATGTTATTTCTTGATGATATGCTGTTTAGCATAACAAGGGGTGGATTATTCATGCCTCCCCTTTCTAAACCATGTAGGGTAACTTTCTGATATTGCCATGACATTTGTAAACTGTCGTGGCGCTGGTGGGAGTGCAGCAGTGAGGATGACCAGAGGTCACTCTCGTTGCCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCTGACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCCCCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCCAGGTTGTGTCCTACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCCATGCTTGTGGCCAAAGGGTACCCAGACATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTCGTCAACGGTGAGGAGGGGGTGGCAGTGGCAGAGCGGGAAGTATGGAGTCACTGGTCACACACCTCCCTCGAGATGACTGCTCGCACCCTGAGCCACAGATGGGGTCCAGGCAGGAATCCCTTCCAGCAGGCCTGGGGCTGGCAGGGGCCTGTGTTACCCCTGGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGTCCTGGGGCTGGCAGGGGCCTGGTGTTACCTCTGGAGGTGTTGGGTCCTGGAGCTGGATGGGACCTGTGTTACCCCTGGAGGTGTTGGGTCCTGGGGCTGCATGGGGAGGTCTCTGATGGTGGCTCATGAGACCCCCTTTCCCCATGCGGGTGGCCAGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGCAGCTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGACCCTGAGCCAGGGCAGGATGGGAAGGGAGGGCAGGCACAGCCGCTTTGAACGCCTCATGCAGGCACTCGGTGACACGGAGTGAGCTCCCATATGTGGGTGGTCCTGGACTAGCAATGTTGGGGACACAACAGTGACCAAGACAGCCCCAGGGCCTGGTCTCACAGAGCTCCCAGTCCAATGGGGGAGACGGACAGTGACACCCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGAAGAGGGGTCGGGGCTGGGATTGCAGGGCACACGGAGAGGACTCAGGATGGGGATGGGGAACACAGGGAGAGGGGTCAGGATGGGGATGGGGTCACAGGGATAGGGGTCGGGGCCAGGATGAGGGGTCGCAGGGAGAGGGGTCAGGATGAGGTTGGGGGGAACAAGGAGAGAGGTCGGGACTGGGGTGGGGGGGCACAGGCAGAGGAACGAGGGCTGGAAACTCTAGACAGCCTCCTGAGAAAGAGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCACCAGCGCCTGATGAGTGCCCCTCTCCCTCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGAACTTGGCGAAGGAGTGATGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCAGCCTGGCCACCCTCCCCACTTCCACAGAGGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTTCTTGGGATTGTGGACATATCATAATCCCCAATACCATCATCAAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAGTAGGAATCTCCAAGACC
|
pathogenic
| 303,670 |
Mutation at chromosome 19, position 38499644, within RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder', 'desflurane_response_-_Toxicity', 'enflurane_response_-_Toxicity', 'halothane_response_-_Toxicity', 'isoflurane_response_-_Toxicity', 'methoxyflurane_response_-_Toxicity', 'sevoflurane_response_-_Toxicity', 'succinylcholine_response_-_Toxicity']
|
AACGTTAGCTGCTGTTATATTATCATTCAACAAATATGTAGTGTTAGCTTACCATATGCAAAGCAGTAGCAATATGACAGTCAAAAATCCCTGTCTGGCCAGGCAAAGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTAAGCTCAGGAGTTTAAGACCAGCCTGGACAATATAGGGACACCTTGTCTCTACAAAAAATACAAAAAGTAGGTGGGTGTAGTGGCACGTAACTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTTGATAGAGCCTGCGAGGCTGAGGCTGCAGTGAGCTATGGTCACACCACTGCACTTCACCTCAGGGACAGAGCGAGACCCCTTAAAAAAAAAAGTGGCCAGAGAAAGCCTCATTGAGAAAGTGACATTTGTGTAAAGCTCTGAAGGAAGGTGACAGGTCAGGTGGTCATCATGGGGAAGAGCATTCTAGGCAGCGGGAACAGCCAGTGCAAAGGCCCTGAGGCAGGAGCAAACCTCATAAGCTGGAGGAACAGCAGAAAGACAGCTGTGGCTGGAGCAGAGGTAGTGAGGGTGAGGGCAGGAGGTGACAGGTGGGTCATGTGGCATCTCATCGGTCACAACAAGGGCTCTGGCTTTTACCCTGAGTGAGAGGAGGCCAGGATTCTGAGCAGAGGAGGGACGTGACCTGACTCAGGTGTTCACAGGGTCCCTCTGGCTGTGTGTGGGGAACAGATTGAGGGGAAGGCAGAAGGACAGAAGGACAGGGAGGAGGCTCGTGTTGTGGTCCAGGTGGGAGACAAGGGTGGACAGAACCGCTACAGGAAAGGGGTCTGGATCCAGGCCCAAAGAGAAGGTTCTTGGATCTCATGTAAGAAAGAATTCAGGGCAACTCCATAGAGTAAAGTGAAAGCAAGTTTATTAGGAAAGTAAAGGAATAAAAGAATGGCTAATCCATAGACAGAGCAGCCCCAAGGGCTGCTGGTTGCCCATTTTTATGTTATTTCTTGATGATATGCTGTTTAGCATAACAAGGGGTGGATTATTCATGCCTCCCCTTTCTAAACCATGTAGGGTAACTTTCTGATATTGCCATGACATTTGTAAACTGTCGTGGCGCTGGTGGGAGTGCAGCAGTGAGGATGACCAGAGGTCACTCTCGTTGCCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCTGACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCCCCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCCAGGTTGTGTCCTACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCATGCTTGTGGCCAAAGGGTACCCAGACATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTCGTCAACGGTGAGGAGGGGGTGGCAGTGGCAGAGCGGGAAGTATGGAGTCACTGGTCACACACCTCCCTCGAGATGACTGCTCGCACCCTGAGCCACAGATGGGGTCCAGGCAGGAATCCCTTCCAGCAGGCCTGGGGCTGGCAGGGGCCTGTGTTACCCCTGGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGTCCTGGGGCTGGCAGGGGCCTGGTGTTACCTCTGGAGGTGTTGGGTCCTGGAGCTGGATGGGACCTGTGTTACCCCTGGAGGTGTTGGGTCCTGGGGCTGCATGGGGAGGTCTCTGATGGTGGCTCATGAGACCCCCTTTCCCCATGCGGGTGGCCAGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGCAGCTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGACCCTGAGCCAGGGCAGGATGGGAAGGGAGGGCAGGCACAGCCGCTTTGAACGCCTCATGCAGGCACTCGGTGACACGGAGTGAGCTCCCATATGTGGGTGGTCCTGGACTAGCAATGTTGGGGACACAACAGTGACCAAGACAGCCCCAGGGCCTGGTCTCACAGAGCTCCCAGTCCAATGGGGGAGACGGACAGTGACACCCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGAAGAGGGGTCGGGGCTGGGATTGCAGGGCACACGGAGAGGACTCAGGATGGGGATGGGGAACACAGGGAGAGGGGTCAGGATGGGGATGGGGTCACAGGGATAGGGGTCGGGGCCAGGATGAGGGGTCGCAGGGAGAGGGGTCAGGATGAGGTTGGGGGGAACAAGGAGAGAGGTCGGGACTGGGGTGGGGGGGCACAGGCAGAGGAACGAGGGCTGGAAACTCTAGACAGCCTCCTGAGAAAGAGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCACCAGCGCCTGATGAGTGCCCCTCTCCCTCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGAACTTGGCGAAGGAGTGATGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCAGCCTGGCCACCCTCCCCACTTCCACAGAGGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTTCTTGGGATTGTGGACATATCATAATCCCCAATACCATCATCAAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAGTAGGAATCTCCAAGACCTCCAGTTATAAGAAATCATCATTTGAGGTCAGGCGTGGTGACTCGCGCCTGTAATCCCAGCACTTTGGGGAGCCGAGGCGAGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCGCATCTCTACTAAAAGTACAAAAATTAGCCAGACGTGGTGGCGCACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCGCTGCACTCCCGCCTGGCAATGGAGCGAGACTCCATCTCAAAAAAAATATTTTGTTCGCAGTATTGGTTTGGTACTGTGGGCACACAGAACTCTGTACAGGAACAGCAATAACAGAAGGGTGACAGGGCAAGGAAGATGAGCACTGAGAAGTGACCACCGATTTGGCAAAGTCAAGGTCACTGGAAATGGGGATGAGCAGTTTCAGCAGGGGACAGAAGCCTTCCGAGAGGGGG
|
AACGTTAGCTGCTGTTATATTATCATTCAACAAATATGTAGTGTTAGCTTACCATATGCAAAGCAGTAGCAATATGACAGTCAAAAATCCCTGTCTGGCCAGGCAAAGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTAAGCTCAGGAGTTTAAGACCAGCCTGGACAATATAGGGACACCTTGTCTCTACAAAAAATACAAAAAGTAGGTGGGTGTAGTGGCACGTAACTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTTGATAGAGCCTGCGAGGCTGAGGCTGCAGTGAGCTATGGTCACACCACTGCACTTCACCTCAGGGACAGAGCGAGACCCCTTAAAAAAAAAAGTGGCCAGAGAAAGCCTCATTGAGAAAGTGACATTTGTGTAAAGCTCTGAAGGAAGGTGACAGGTCAGGTGGTCATCATGGGGAAGAGCATTCTAGGCAGCGGGAACAGCCAGTGCAAAGGCCCTGAGGCAGGAGCAAACCTCATAAGCTGGAGGAACAGCAGAAAGACAGCTGTGGCTGGAGCAGAGGTAGTGAGGGTGAGGGCAGGAGGTGACAGGTGGGTCATGTGGCATCTCATCGGTCACAACAAGGGCTCTGGCTTTTACCCTGAGTGAGAGGAGGCCAGGATTCTGAGCAGAGGAGGGACGTGACCTGACTCAGGTGTTCACAGGGTCCCTCTGGCTGTGTGTGGGGAACAGATTGAGGGGAAGGCAGAAGGACAGAAGGACAGGGAGGAGGCTCGTGTTGTGGTCCAGGTGGGAGACAAGGGTGGACAGAACCGCTACAGGAAAGGGGTCTGGATCCAGGCCCAAAGAGAAGGTTCTTGGATCTCATGTAAGAAAGAATTCAGGGCAACTCCATAGAGTAAAGTGAAAGCAAGTTTATTAGGAAAGTAAAGGAATAAAAGAATGGCTAATCCATAGACAGAGCAGCCCCAAGGGCTGCTGGTTGCCCATTTTTATGTTATTTCTTGATGATATGCTGTTTAGCATAACAAGGGGTGGATTATTCATGCCTCCCCTTTCTAAACCATGTAGGGTAACTTTCTGATATTGCCATGACATTTGTAAACTGTCGTGGCGCTGGTGGGAGTGCAGCAGTGAGGATGACCAGAGGTCACTCTCGTTGCCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCTGACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCCCCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCCAGGTTGTGTCCTACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCATGCTTGTGGCCAAAGGGTACCCAGACATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTCGTCAACGGTGAGGAGGGGGTGGCAGTGGCAGAGCGGGAAGTATGGAGTCACTGGTCACACACCTCCCTCGAGATGACTGCTCGCACCCTGAGCCACAGATGGGGTCCAGGCAGGAATCCCTTCCAGCAGGCCTGGGGCTGGCAGGGGCCTGTGTTACCCCTGGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGTCCTGGGGCTGGCAGGGGCCTGGTGTTACCTCTGGAGGTGTTGGGTCCTGGAGCTGGATGGGACCTGTGTTACCCCTGGAGGTGTTGGGTCCTGGGGCTGCATGGGGAGGTCTCTGATGGTGGCTCATGAGACCCCCTTTCCCCATGCGGGTGGCCAGGCGAGAGCGTGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGCAGCTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGACCCTGAGCCAGGGCAGGATGGGAAGGGAGGGCAGGCACAGCCGCTTTGAACGCCTCATGCAGGCACTCGGTGACACGGAGTGAGCTCCCATATGTGGGTGGTCCTGGACTAGCAATGTTGGGGACACAACAGTGACCAAGACAGCCCCAGGGCCTGGTCTCACAGAGCTCCCAGTCCAATGGGGGAGACGGACAGTGACACCCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGAAGAGGGGTCGGGGCTGGGATTGCAGGGCACACGGAGAGGACTCAGGATGGGGATGGGGAACACAGGGAGAGGGGTCAGGATGGGGATGGGGTCACAGGGATAGGGGTCGGGGCCAGGATGAGGGGTCGCAGGGAGAGGGGTCAGGATGAGGTTGGGGGGAACAAGGAGAGAGGTCGGGACTGGGGTGGGGGGGCACAGGCAGAGGAACGAGGGCTGGAAACTCTAGACAGCCTCCTGAGAAAGAGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCACCAGCGCCTGATGAGTGCCCCTCTCCCTCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGAACTTGGCGAAGGAGTGATGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCAGCCTGGCCACCCTCCCCACTTCCACAGAGGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTTCTTGGGATTGTGGACATATCATAATCCCCAATACCATCATCAAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAGTAGGAATCTCCAAGACCTCCAGTTATAAGAAATCATCATTTGAGGTCAGGCGTGGTGACTCGCGCCTGTAATCCCAGCACTTTGGGGAGCCGAGGCGAGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCGCATCTCTACTAAAAGTACAAAAATTAGCCAGACGTGGTGGCGCACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCGCTGCACTCCCGCCTGGCAATGGAGCGAGACTCCATCTCAAAAAAAATATTTTGTTCGCAGTATTGGTTTGGTACTGTGGGCACACAGAACTCTGTACAGGAACAGCAATAACAGAAGGGTGACAGGGCAAGGAAGATGAGCACTGAGAAGTGACCACCGATTTGGCAAAGTCAAGGTCACTGGAAATGGGGATGAGCAGTTTCAGCAGGGGACAGAAGCCTTCCGAGAGGGGGNNN
|
pathogenic
| 303,683 |
Is the chromosome 19, position 38500834 variant in RYR1 (ryanodine receptor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic
|
GGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCTGACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCCCCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCCAGGTTGTGTCCTACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCATGCTTGTGGCCAAAGGGTACCCAGACATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTCGTCAACGGTGAGGAGGGGGTGGCAGTGGCAGAGCGGGAAGTATGGAGTCACTGGTCACACACCTCCCTCGAGATGACTGCTCGCACCCTGAGCCACAGATGGGGTCCAGGCAGGAATCCCTTCCAGCAGGCCTGGGGCTGGCAGGGGCCTGTGTTACCCCTGGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGTCCTGGGGCTGGCAGGGGCCTGGTGTTACCTCTGGAGGTGTTGGGTCCTGGAGCTGGATGGGACCTGTGTTACCCCTGGAGGTGTTGGGTCCTGGGGCTGCATGGGGAGGTCTCTGATGGTGGCTCATGAGACCCCCTTTCCCCATGCGGGTGGCCAGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGCAGCTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGACCCTGAGCCAGGGCAGGATGGGAAGGGAGGGCAGGCACAGCCGCTTTGAACGCCTCATGCAGGCACTCGGTGACACGGAGTGAGCTCCCATATGTGGGTGGTCCTGGACTAGCAATGTTGGGGACACAACAGTGACCAAGACAGCCCCAGGGCCTGGTCTCACAGAGCTCCCAGTCCAATGGGGGAGACGGACAGTGACACCCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGAAGAGGGGTCGGGGCTGGGATTGCAGGGCACACGGAGAGGACTCAGGATGGGGATGGGGAACACAGGGAGAGGGGTCAGGATGGGGATGGGGTCACAGGGATAGGGGTCGGGGCCAGGATGAGGGGTCGCAGGGAGAGGGGTCAGGATGAGGTTGGGGGGAACAAGGAGAGAGGTCGGGACTGGGGTGGGGGGGCACAGGCAGAGGAACGAGGGCTGGAAACTCTAGACAGCCTCCTGAGAAAGAGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCACCAGCGCCTGATGAGTGCCCCTCTCCCTCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGAACTTGGCGAAGGAGTGATGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCAGCCTGGCCACCCTCCCCACTTCCACAGAGGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTTCTTGGGATTGTGGACATATCATAATCCCCAATACCATCATCAAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAGTAGGAATCTCCAAGACCTCCAGTTATAAGAAATCATCATTTGAGGTCAGGCGTGGTGACTCGCGCCTGTAATCCCAGCACTTTGGGGAGCCGAGGCGAGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCGCATCTCTACTAAAAGTACAAAAATTAGCCAGACGTGGTGGCGCACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCGCTGCACTCCCGCCTGGCAATGGAGCGAGACTCCATCTCAAAAAAAATATTTTGTTCGCAGTATTGGTTTGGTACTGTGGGCACACAGAACTCTGTACAGGAACAGCAATAACAGAAGGGTGACAGGGCAAGGAAGATGAGCACTGAGAAGTGACCACCGATTTGGCAAAGTCAAGGTCACTGGAAATGGGGATGAGCAGTTTCAGCAGGGGACAGAAGCCTTCCGAGAGGGGGTTTAAGAGAGCCTGGGGCTGTGCATGGTGGCTCACCCCTGTAATAACTTTGGGAGGCCGAGGCGGGTGGGTTGCTTGAAGCCAGGATTTTGAGACCAGCCTGGGCAACATGGAGAGATCCTGTCTCTACAAAAAAAATTTAAATATTAGCTGGGCATGGTGCTGCACACCTGTAGTCCCCTCTACTAGAGAGGCTGAGGTGGGAGAATCACTTGAGGGACAGACATTGAGGCTGCAGTGAACCATGATTACATCTCTGCATTCCAGCCTGGGCGACAGAGCGAGACCTTATCTCAGAAAAAAAAAAGAAAAATAAATTAGCCAGGCATGGAGGTGCGTCCCTGTAGTCCTAGCTACTAGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAATTCGAGGCTGCAGGGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGACCCCTGTCTCTAACAGATGAAAAAGAATGTATTACAGGAAGAAAGATGAGGGTTAGAGAGGAGATAAGCGTGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCGCTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGACTCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGT
|
GGGTTTTGGCCGGCTTCTTTACTGCAGCCTATTTTATCAGCAAGGACTTTATGACCTGTATCTTGTGCCAACCTTCTATCTTGTTCTGTGACTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCTGACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCCCCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCCAGGTTGTGTCCTACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCATGCTTGTGGCCAAAGGGTACCCAGACATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTCGTCAACGGTGAGGAGGGGGTGGCAGTGGCAGAGCGGGAAGTATGGAGTCACTGGTCACACACCTCCCTCGAGATGACTGCTCGCACCCTGAGCCACAGATGGGGTCCAGGCAGGAATCCCTTCCAGCAGGCCTGGGGCTGGCAGGGGCCTGTGTTACCCCTGGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGTCCTGGGGCTGGCAGGGGCCTGGTGTTACCTCTGGAGGTGTTGGGTCCTGGAGCTGGATGGGACCTGTGTTACCCCTGGAGGTGTTGGGTCCTGGGGCTGCATGGGGAGGTCTCTGATGGTGGCTCATGAGACCCCCTTTCCCCATGCGGGTGGCCAGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGCAGCTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGACCCTGAGCCAGGGCAGGATGGGAAGGGAGGGCAGGCACAGCCGCTTTGAACGCCTCATGCAGGCACTCGGTGACACGGAGTGAGCTCCCATATGTGGGTGGTCCTGGACTAGCAATGTTGGGGACACAACAGTGACCAAGACAGCCCCAGGGCCTGGTCTCACAGAGCTCCCAGTCCAATGGGGGAGACGGACAGTGACACCCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGAAGAGGGGTCGGGGCTGGGATTGCAGGGCACACGGAGAGGACTCAGGATGGGGATGGGGAACACAGGGAGAGGGGTCAGGATGGGGATGGGGTCACAGGGATAGGGGTCGGGGCCAGGATGAGGGGTCGCAGGGAGAGGGGTCAGGATGAGGTTGGGGGGAACAAGGAGAGAGGTCGGGACTGGGGTGGGGGGGCACAGGCAGAGGAACGAGGGCTGGAAACTCTAGACAGCCTCCTGAGAAAGAGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCACCAGCGCCTGATGAGTGCCCCTCTCCCTCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGAACTTGGCGAAGGAGTGATGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGGTGCAGCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCAGCCTGGCCACCCTCCCCACTTCCACAGAGGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTTCTTGGGATTGTGGACATATCATAATCCCCAATACCATCATCAAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAGTAGGAATCTCCAAGACCTCCAGTTATAAGAAATCATCATTTGAGGTCAGGCGTGGTGACTCGCGCCTGTAATCCCAGCACTTTGGGGAGCCGAGGCGAGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCGCATCTCTACTAAAAGTACAAAAATTAGCCAGACGTGGTGGCGCACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCGCTGCACTCCCGCCTGGCAATGGAGCGAGACTCCATCTCAAAAAAAATATTTTGTTCGCAGTATTGGTTTGGTACTGTGGGCACACAGAACTCTGTACAGGAACAGCAATAACAGAAGGGTGACAGGGCAAGGAAGATGAGCACTGAGAAGTGACCACCGATTTGGCAAAGTCAAGGTCACTGGAAATGGGGATGAGCAGTTTCAGCAGGGGACAGAAGCCTTCCGAGAGGGGGTTTAAGAGAGCCTGGGGCTGTGCATGGTGGCTCACCCCTGTAATAACTTTGGGAGGCCGAGGCGGGTGGGTTGCTTGAAGCCAGGATTTTGAGACCAGCCTGGGCAACATGGAGAGATCCTGTCTCTACAAAAAAAATTTAAATATTAGCTGGGCATGGTGCTGCACACCTGTAGTCCCCTCTACTAGAGAGGCTGAGGTGGGAGAATCACTTGAGGGACAGACATTGAGGCTGCAGTGAACCATGATTACATCTCTGCATTCCAGCCTGGGCGACAGAGCGAGACCTTATCTCAGAAAAAAAAAAGAAAAATAAATTAGCCAGGCATGGAGGTGCGTCCCTGTAGTCCTAGCTACTAGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAATTCGAGGCTGCAGGGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGACCCCTGTCTCTAACAGATGAAAAAGAATGTATTACAGGAAGAAAGATGAGGGTTAGAGAGGAGATAAGCGTGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCGCTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGACTCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTNNNNNNNNNNNNN
|
pathogenic
| 303,738 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 38504245, gene RYR1 (ryanodine receptor 1): what disease(s) if pathogenic?
|
pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder']
|
TAGAGAGGAGATAAGCGTGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCGCTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGACTCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTGCACTAGTTAGGGCAGCGTCCCCGTAGAAATCTCTTAGCATCCTTATTTGCATACTAGGATTCCCAGAACATTCACTTTGCTTCATTGATGCCTCTAGCGTTCCCTAATTAGCATTTAATTTGCTTAACAGTGAGCCAGCCCCCGCTTCAATTAGCATATATTTGCATGGAGCACACCACTTTCCCTAATTAGCATGTTTATTTGCATGCCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAACTACAAAAATAAGCCAGGCATAGTGGAGCACGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTCAAGAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAATTTGCATTTTGGATAGTGGAGGCCCTCTTCCCAATTACCATATATTTGCATGGGGTGCAGCCTTTGTTTCTACTTGGTATGTTAATTTACATAAGCACAGATTGCTGCATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTT
|
TAGAGAGGAGATAAGCGTGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCGCTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGACTCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTGCACTAGTTAGGGCAGCGTCCCCGTAGAAATCTCTTAGCATCCTTATTTGCATACTAGGATTCCCAGAACATTCACTTTGCTTCATTGATGCCTCTAGCGTTCCCTAATTAGCATTTAATTTGCTTAACAGTGAGCCAGCCCCCGCTTCAATTAGCATATATTTGCATGGAGCACACCACTTTCCCTAATTAGCATGTTTATTTGCATGCCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAACTACAAAAATAAGCCAGGCATAGTGGAGCACGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTCAAGAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAATTTGCATTTTGGATAGTGGAGGCCCTCTTCCCAATTACCATATATTTGCATGGGGTGCAGCCTTTGTTTCTACTTGGTATGTTAATTTACATAAGCACAGATTGCTGCATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCT
|
pathogenic
| 303,830 |
Evaluate the clinical significance of the mutation at chromosome 19, position 38504262 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['RYR1-related_disorder']
|
TGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCGCTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGACTCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTGCACTAGTTAGGGCAGCGTCCCCGTAGAAATCTCTTAGCATCCTTATTTGCATACTAGGATTCCCAGAACATTCACTTTGCTTCATTGATGCCTCTAGCGTTCCCTAATTAGCATTTAATTTGCTTAACAGTGAGCCAGCCCCCGCTTCAATTAGCATATATTTGCATGGAGCACACCACTTTCCCTAATTAGCATGTTTATTTGCATGCCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAACTACAAAAATAAGCCAGGCATAGTGGAGCACGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTCAAGAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAATTTGCATTTTGGATAGTGGAGGCCCTCTTCCCAATTACCATATATTTGCATGGGGTGCAGCCTTTGTTTCTACTTGGTATGTTAATTTACATAAGCACAGATTGCTGCATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATG
|
TGCAGACCATTGATATTTACAGAAGAGCCAAATCTGTAATGGGGTTCATTAATCTCATCGACCAGTTGTGTGTGTTTGAAATTTTGCATAATCCAAAGTAGTAAGTGGTGGGGTGGGGGCTGTGGGCATAGGGGTGTGGGCATAGGGTGGGAGGAGGGTGGTAGAGATTGGGAGGAGCAGGTTTTGGGGGAGTCATCAGAAGCTTGGATCCTTTGGCCACAGTCGCTCAAGACAGGTGCCAGAGCAGCCCCAGGGGTGTGCAGCGGGCCTGATGTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCGCTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGACTCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTGCACTAGTTAGGGCAGCGTCCCCGTAGAAATCTCTTAGCATCCTTATTTGCATACTAGGATTCCCAGAACATTCACTTTGCTTCATTGATGCCTCTAGCGTTCCCTAATTAGCATTTAATTTGCTTAACAGTGAGCCAGCCCCCGCTTCAATTAGCATATATTTGCATGGAGCACACCACTTTCCCTAATTAGCATGTTTATTTGCATGCCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAACTACAAAAATAAGCCAGGCATAGTGGAGCACGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTCAAGAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAATTTGCATTTTGGATAGTGGAGGCCCTCTTCCCAATTACCATATATTTGCATGGGGTGCAGCCTTTGTTTCTACTTGGTATGTTAATTTACATAAGCACAGATTGCTGCATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCAACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGN
|
pathogenic
| 303,833 |
Mutation found at chromosome 19 position 38504715, gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
benign
|
GTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTGCACTAGTTAGGGCAGCGTCCCCGTAGAAATCTCTTAGCATCCTTATTTGCATACTAGGATTCCCAGAACATTCACTTTGCTTCATTGATGCCTCTAGCGTTCCCTAATTAGCATTTAATTTGCTTAACAGTGAGCCAGCCCCCGCTTCAATTAGCATATATTTGCATGGAGCACACCACTTTCCCTAATTAGCATGTTTATTTGCATGCCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAACTACAAAAATAAGCCAGGCATAGTGGAGCACGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTCAAGAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAATTTGCATTTTGGATAGTGGAGGCCCTCTTCCCAATTACCATATATTTGCATGGGGTGCAGCCTTTGTTTCTACTTGGTATGTTAATTTACATAAGCACAGATTGCTGCATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGG
|
GTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTGCACTAGTTAGGGCAGCGTCCCCGTAGAAATCTCTTAGCATCCTTATTTGCATACTAGGATTCCCAGAACATTCACTTTGCTTCATTGATGCCTCTAGCGTTCCCTAATTAGCATTTAATTTGCTTAACAGTGAGCCAGCCCCCGCTTCAATTAGCATATATTTGCATGGAGCACACCACTTTCCCTAATTAGCATGTTTATTTGCATGCCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAACTACAAAAATAAGCCAGGCATAGTGGAGCACGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTCAAGAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAATTTGCATTTTGGATAGTGGAGGCCCTCTTCCCAATTACCATATATTTGCATGGGGTGCAGCCTTTGTTTCTACTTGGTATGTTAATTTACATAAGCACAGATTGCTGCATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGNNN
|
benign
| 303,845 |
Evaluate the clinical significance of the mutation at chromosome 19, position 38504810 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Central_core_myopathy', 'RYR1-related_disorder']
|
CAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTGCACTAGTTAGGGCAGCGTCCCCGTAGAAATCTCTTAGCATCCTTATTTGCATACTAGGATTCCCAGAACATTCACTTTGCTTCATTGATGCCTCTAGCGTTCCCTAATTAGCATTTAATTTGCTTAACAGTGAGCCAGCCCCCGCTTCAATTAGCATATATTTGCATGGAGCACACCACTTTCCCTAATTAGCATGTTTATTTGCATGCCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAACTACAAAAATAAGCCAGGCATAGTGGAGCACGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTCAAGAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAATTTGCATTTTGGATAGTGGAGGCCCTCTTCCCAATTACCATATATTTGCATGGGGTGCAGCCTTTGTTTCTACTTGGTATGTTAATTTACATAAGCACAGATTGCTGCATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCC
|
CAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAGAGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTGCACTAGTTAGGGCAGCGTCCCCGTAGAAATCTCTTAGCATCCTTATTTGCATACTAGGATTCCCAGAACATTCACTTTGCTTCATTGATGCCTCTAGCGTTCCCTAATTAGCATTTAATTTGCTTAACAGTGAGCCAGCCCCCGCTTCAATTAGCATATATTTGCATGGAGCACACCACTTTCCCTAATTAGCATGTTTATTTGCATGCCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAACTACAAAAATAAGCCAGGCATAGTGGAGCACGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTCAAGAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAATTTGCATTTTGGATAGTGGAGGCCCTCTTCCCAATTACCATATATTTGCATGGGGTGCAGCCTTTGTTTCTACTTGGTATGTTAATTTACATAAGCACAGATTGCTGCATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCC
|
pathogenic
| 303,853 |
Considering the variant on chromosome 19, location 38505338, involving gene RYR1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Central_core_myopathy', 'Centronuclear_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder']
|
CCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAACTACAAAAATAAGCCAGGCATAGTGGAGCACGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTCAAGAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAATTTGCATTTTGGATAGTGGAGGCCCTCTTCCCAATTACCATATATTTGCATGGGGTGCAGCCTTTGTTTCTACTTGGTATGTTAATTTACATAAGCACAGATTGCTGCATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGG
|
CCTGGACCACCAGACTTCCACTATTCAAATGAGTGCATTTATTTGAATAAACATTATCACAGCTATTCTGAATATTTGCACACTGTCTCTCTTATTTTTTCATTTGCATGCTAATTTGCATAAAGAGATACCCCCAACTCAGATATTTTGACTATTTTGCATAATACATCGAAATCAGCTCCTATTTCAAATTTGCATTTTAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAACTACAAAAATAAGCCAGGCATAGTGGAGCACGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGTCAAGAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAATTTGCATTTTGGATAGTGGAGGCCCTCTTCCCAATTACCATATATTTGCATGGGGTGCAGCCTTTGTTTCTACTTGGTATGTTAATTTACATAAGCACAGATTGCTGCATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGNN
|
pathogenic
| 303,874 |
Determine whether the variant at chromosome 19, position 38505945, in gene RYR1 is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder']
|
ATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGGTGGGGAGGTACAGAGGGGCGGGGACTGGTGAGTGGAGGCGGGACCAAAGAGGAGAGAAGGGCTGAGAAGGGCAGGGCCCGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCCTGGGGAACAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAAGCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCACATCTCCATGCAGAGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGGTACGGAGAAATACCCCCCGCTTATGCCCGCCCCACCTGCAGACACCAGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATCCGTCCTCCCCTTATCTGATGTTTATTGAGCTTCTACTATGTGCCAGACACTGTTCTAGATGCTGGGGTAC
|
ATCCATATGCCCATTTACTCACTACATACCCATGGATTAATATTAGCACGCTTATTTGTGTAAAGCAATACCAGACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTCAATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCAAAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAGAACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGCTCTGTTACAGAGCAGGTAAGAGACTTGAGTTGGAATCCAGACTGGACCATTGCCTAGCCACATGGTCAGGGTTTTCTCCTTTGGGGTCCTTCCTCCACCCCTCTCTCATCCCATTCCACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGGTGGGGAGGTACAGAGGGGCGGGGACTGGTGAGTGGAGGCGGGACCAAAGAGGAGAGAAGGGCTGAGAAGGGCAGGGCCCGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCCTGGGGAACAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAAGCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCACATCTCCATGCAGAGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGGTACGGAGAAATACCCCCCGCTTATGCCCGCCCCACCTGCAGACACCAGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATCCGTCCTCCCCTTATCTGATGTTTATTGAGCTTCTACTATGTGCCAGACACTGTTCTAGATGCTGGGGTACN
|
pathogenic
| 303,889 |
Is the variant located on chromosome 19 at position 38507824, gene RYR1 (ryanodine receptor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder']
|
ACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGGTGGGGAGGTACAGAGGGGCGGGGACTGGTGAGTGGAGGCGGGACCAAAGAGGAGAGAAGGGCTGAGAAGGGCAGGGCCCGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCCTGGGGAACAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAAGCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCACATCTCCATGCAGAGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGGTACGGAGAAATACCCCCCGCTTATGCCCGCCCCACCTGCAGACACCAGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATCCGTCCTCCCCTTATCTGATGTTTATTGAGCTTCTACTATGTGCCAGACACTGTTCTAGATGCTGGGGTACAGCAGTGAAGATGACAAATGACCCCTGCTCTCCTGCAACTACTCCTATGTTGGATTCAGGCAATTAGCATCATAAATAACTAAATCGTTTAGTGTTAGAAGGTGATCAGTGTTATGGGAAGAAGAAAACAATAGAGCCAGGTAGAGGGGATTGGGAGTGTGGAGCCAGTTGTAATTTTATTTTATTTCATTTTATTTTATTTTTATTTTTTATTTTATTTATTTATTTATTTTTGAGACAGAGTTTCGATCTTGCTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAACCTCTGCTTTCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACGGGCGCCGCCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTCGACCTCGTGATCTGCCGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACCGCACCCGGCTTGCCAGTTGTAATTTTAAATAGGGTGTTCCAGAAAGACTTTGATGAGAATGTGATATCTGAGGCAAGCCATGAAGGAGGTCAGAGAGGAGCTGTGTGGACCTCTGGGGGCATCTGTTCCTTGCAGGCAAAGGAACAGCGAGTGCAAAGGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGCCCCCCAGTGCCTCTTACAGGCCACTAAGAATTACAGCTAGGCCCTACAATCCCCTCCAGTTTCCCTTAGAGACCCCCCCCAGCATTCCCCTTGAGAGCTACCCTCAGGAACCCCCAAATTCCCTCCAGGTGAGTGGCAGAGCAGGATTCGCTGTCACGTCTCACCTCAAAGCCTGCCTGCTGAGCTTCAGTGCTGCACATCCCCCTGACAATTCCCTTCCCTCTCTAGACCTCAGTTTCCTCACCTGTGATATGGGCATATGTTCACCATAACTAGCCATGGTTCTGTTACTTACTGGGTGACCTGGGGTTAGTTACTTCACCTGAGTTTCCTCATCTGAAAAATGGGGGTTGGGAACCAACTGCACAGACCTCCAAGTTGTAAGGAGACTGTGTGAGGATGACATGTCTCACAGTGCCAAGGACATAGCAAGTGTTTAATAATTGGAGCCAGTATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGTTGGACTGCAGTGGCGCGATCTCAGCTCACTGCAGGCTCCGCCTCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATTTG
|
ACCAACTCCCCACCCTCCTGTCCACCCCAGGACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGGTGGGGAGGTACAGAGGGGCGGGGACTGGTGAGTGGAGGCGGGACCAAAGAGGAGAGAAGGGCTGAGAAGGGCAGGGCCCGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCCTGGGGAACAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAAGCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCACATCTCCATGCAGAGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACAAGCGGGGAGAAATACCCCCCGCTTATGCCCGCCCCACCTGCAGACACCAGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATCCGTCCTCCCCTTATCTGATGTTTATTGAGCTTCTACTATGTGCCAGACACTGTTCTAGATGCTGGGGTACAGCAGTGAAGATGACAAATGACCCCTGCTCTCCTGCAACTACTCCTATGTTGGATTCAGGCAATTAGCATCATAAATAACTAAATCGTTTAGTGTTAGAAGGTGATCAGTGTTATGGGAAGAAGAAAACAATAGAGCCAGGTAGAGGGGATTGGGAGTGTGGAGCCAGTTGTAATTTTATTTTATTTCATTTTATTTTATTTTTATTTTTTATTTTATTTATTTATTTATTTTTGAGACAGAGTTTCGATCTTGCTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAACCTCTGCTTTCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACGGGCGCCGCCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTCGACCTCGTGATCTGCCGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACCGCACCCGGCTTGCCAGTTGTAATTTTAAATAGGGTGTTCCAGAAAGACTTTGATGAGAATGTGATATCTGAGGCAAGCCATGAAGGAGGTCAGAGAGGAGCTGTGTGGACCTCTGGGGGCATCTGTTCCTTGCAGGCAAAGGAACAGCGAGTGCAAAGGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGCCCCCCAGTGCCTCTTACAGGCCACTAAGAATTACAGCTAGGCCCTACAATCCCCTCCAGTTTCCCTTAGAGACCCCCCCCAGCATTCCCCTTGAGAGCTACCCTCAGGAACCCCCAAATTCCCTCCAGGTGAGTGGCAGAGCAGGATTCGCTGTCACGTCTCACCTCAAAGCCTGCCTGCTGAGCTTCAGTGCTGCACATCCCCCTGACAATTCCCTTCCCTCTCTAGACCTCAGTTTCCTCACCTGTGATATGGGCATATGTTCACCATAACTAGCCATGGTTCTGTTACTTACTGGGTGACCTGGGGTTAGTTACTTCACCTGAGTTTCCTCATCTGAAAAATGGGGGTTGGGAACCAACTGCACAGACCTCCAAGTTGTAAGGAGACTGTGTGAGGATGACATGTCTCACAGTGCCAAGGACATAGCAAGTGTTTAATAATTGGAGCCAGTATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGTTGGACTGCAGTGGCGCGATCTCAGCTCACTGCAGGCTCCGCCTCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATTTGNN
|
pathogenic
| 303,933 |
The mutation impacting RYR1 (ryanodine receptor 1) on chromosome 19 at position 38507857: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
AAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGGTGGGGAGGTACAGAGGGGCGGGGACTGGTGAGTGGAGGCGGGACCAAAGAGGAGAGAAGGGCTGAGAAGGGCAGGGCCCGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCCTGGGGAACAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAAGCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCACATCTCCATGCAGAGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGGTACGGAGAAATACCCCCCGCTTATGCCCGCCCCACCTGCAGACACCAGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATCCGTCCTCCCCTTATCTGATGTTTATTGAGCTTCTACTATGTGCCAGACACTGTTCTAGATGCTGGGGTACAGCAGTGAAGATGACAAATGACCCCTGCTCTCCTGCAACTACTCCTATGTTGGATTCAGGCAATTAGCATCATAAATAACTAAATCGTTTAGTGTTAGAAGGTGATCAGTGTTATGGGAAGAAGAAAACAATAGAGCCAGGTAGAGGGGATTGGGAGTGTGGAGCCAGTTGTAATTTTATTTTATTTCATTTTATTTTATTTTTATTTTTTATTTTATTTATTTATTTATTTTTGAGACAGAGTTTCGATCTTGCTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAACCTCTGCTTTCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACGGGCGCCGCCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTCGACCTCGTGATCTGCCGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACCGCACCCGGCTTGCCAGTTGTAATTTTAAATAGGGTGTTCCAGAAAGACTTTGATGAGAATGTGATATCTGAGGCAAGCCATGAAGGAGGTCAGAGAGGAGCTGTGTGGACCTCTGGGGGCATCTGTTCCTTGCAGGCAAAGGAACAGCGAGTGCAAAGGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGCCCCCCAGTGCCTCTTACAGGCCACTAAGAATTACAGCTAGGCCCTACAATCCCCTCCAGTTTCCCTTAGAGACCCCCCCCAGCATTCCCCTTGAGAGCTACCCTCAGGAACCCCCAAATTCCCTCCAGGTGAGTGGCAGAGCAGGATTCGCTGTCACGTCTCACCTCAAAGCCTGCCTGCTGAGCTTCAGTGCTGCACATCCCCCTGACAATTCCCTTCCCTCTCTAGACCTCAGTTTCCTCACCTGTGATATGGGCATATGTTCACCATAACTAGCCATGGTTCTGTTACTTACTGGGTGACCTGGGGTTAGTTACTTCACCTGAGTTTCCTCATCTGAAAAATGGGGGTTGGGAACCAACTGCACAGACCTCCAAGTTGTAAGGAGACTGTGTGAGGATGACATGTCTCACAGTGCCAAGGACATAGCAAGTGTTTAATAATTGGAGCCAGTATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGTTGGACTGCAGTGGCGCGATCTCAGCTCACTGCAGGCTCCGCCTCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATTTGGTTCATTCATTCATTTATTGCAGATTAACTCAG
|
AAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAATGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGGAAGATATCACAAAGTGCCCAGGTGAAGGCGGGGCCTGGGTGGAGGGCAGGGGCACGATGGGGGGAGGGTCTAGAACAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAGGGGCCCAGGGAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAGAGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACAAGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGTGGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCCGACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGGGACATAGGGTGTCTTTGGGGGGGCTGGCATCCTCTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAGAAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCTACCCCCGTGGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGGGAATAATAACAGCGTTTACCACCATGGGGTAATGAGATGAGCACCAGCAAGCAATGTTTCCGTTATTCGTATCTTCTTTATCACCATAATTACGCATGCCGGGCACTGCAGGAACCACTTCAGTGAGAGTGGCCCGGGTCTTCCCCAGAGCCCTGATTTCTGGTCTTTGCCTCCCCAGGCGGTGGGACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGAGAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGCAGCAGGCAGAACACACCCGGCAAAGGCTGGAAGGGGCGGGGCCAGAGAGGGGTGGAGCCGAGAGGAACGGGGCCTGAGGAGCAAAGATGGAACCAGAGGGGAGGAGCTAAGGGAGTGGGGCCTGGACACAGAGGCGGGGCCAGATGGGGAGGAGTTCGAAATGGGCGGGGCTTAAGCACAGGCGGGACCAGAGAGGAGAGGAGGAAGAGAAGGGCGGGGCCCAGGGAGCAGAGGCGGGGCCAGAGAGTGGAGGAGACTGAGAGGGGCGGGGACCGGTGATTGGAGGCGGGACCAAAGAGGAGAGAAGGCTGAAAAGGGTGGGGCCCGGGGAACAGAGGTAGGGCCAAAGAGGAAGAGGCTGAGAGGGGCGGGGGCTGGGGAGCACAGGCGGGGCCAGAGAGGGGTGGGGAGGTACAGAGGGGCGGGGACTGGTGAGTGGAGGCGGGACCAAAGAGGAGAGAAGGGCTGAGAAGGGCAGGGCCCGGGGAACAGAGGTGGGGCCAAAGGGGAGGAGGCTGAGAGGGGCCGGCCCTGGGGAACAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAAGCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCACATCTCCATGCAGAGGCCTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGGTACGGAGAAATACCCCCCGCTTATGCCCGCCCCCACCTGCAGACACCAGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATCCGTCCTCCCCTTATCTGATGTTTATTGAGCTTCTACTATGTGCCAGACACTGTTCTAGATGCTGGGGTACAGCAGTGAAGATGACAAATGACCCCTGCTCTCCTGCAACTACTCCTATGTTGGATTCAGGCAATTAGCATCATAAATAACTAAATCGTTTAGTGTTAGAAGGTGATCAGTGTTATGGGAAGAAGAAAACAATAGAGCCAGGTAGAGGGGATTGGGAGTGTGGAGCCAGTTGTAATTTTATTTTATTTCATTTTATTTTATTTTTATTTTTTATTTTATTTATTTATTTATTTTTGAGACAGAGTTTCGATCTTGCTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAACCTCTGCTTTCTGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACGGGCGCCGCCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTCGACCTCGTGATCTGCCGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACCGCACCCGGCTTGCCAGTTGTAATTTTAAATAGGGTGTTCCAGAAAGACTTTGATGAGAATGTGATATCTGAGGCAAGCCATGAAGGAGGTCAGAGAGGAGCTGTGTGGACCTCTGGGGGCATCTGTTCCTTGCAGGCAAAGGAACAGCGAGTGCAAAGGCCCTGAGAGGTCCCTGGTGTGAGTGTCAGGATGCCCTGTAGCTGAAGCAGAGTCATCGAGGGGGACGGTGAGATAAACGAGGTCACAGAGGTGACTGGGGCAGATCATGCAGGGCTTTGCAAGCTGTGATGAGGACTTTGACCTTACCTGGAATGAGATGGAGTTGGGGGTTGGGGGCTGAGCCGAGGAGGGACGTGATCCATAATTCTGGTGTTCACAGGGTCCCTCTGGCTTGACTGGGGTGGGGACAGGAGCCGAAAAGGGTGAGAACTGGGCAGATTTCTGGATCTATTTTGAAGGCTGAGGCTGCTGGGGTGCCCCCCAGTGCCTCTTACAGGCCACTAAGAATTACAGCTAGGCCCTACAATCCCCTCCAGTTTCCCTTAGAGACCCCCCCCAGCATTCCCCTTGAGAGCTACCCTCAGGAACCCCCAAATTCCCTCCAGGTGAGTGGCAGAGCAGGATTCGCTGTCACGTCTCACCTCAAAGCCTGCCTGCTGAGCTTCAGTGCTGCACATCCCCCTGACAATTCCCTTCCCTCTCTAGACCTCAGTTTCCTCACCTGTGATATGGGCATATGTTCACCATAACTAGCCATGGTTCTGTTACTTACTGGGTGACCTGGGGTTAGTTACTTCACCTGAGTTTCCTCATCTGAAAAATGGGGGTTGGGAACCAACTGCACAGACCTCCAAGTTGTAAGGAGACTGTGTGAGGATGACATGTCTCACAGTGCCAAGGACATAGCAAGTGTTTAATAATTGGAGCCAGTATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGTTGGACTGCAGTGGCGCGATCTCAGCTCACTGCAGGCTCCGCCTCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATTTGGTTCATTCATTCATTTATTGCAGATTAACTCA
|
benign
| 303,934 |
Located at chromosome 19 position 38511551, the variant affecting gene RYR1 (ryanodine receptor 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
ACTGCAGTGGCGCGATCTCAGCTCACTGCAGGCTCCGCCTCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATTTGGTTCATTCATTCATTTATTGCAGATTAACTCAGTGCCATGTATTCAAGTTTAGAATGAAAAGCACTTATGGTGGGTGAGGAAGGGCATGTTCCATGACCTTAACCCATTCCAGTTTGTTTTCCCCATTGTCAGCTTCAGAAAGGGTTTGATCAAGGAGTTGTCAGCTTCAAGAAGGATTTGATCAAGAAGTTGGGGGAAAGCACATTGGGAGGTTGAGGCGGGTGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGACAACATGGTGAAACCTTGGCTGTACTAAAAATACAAAAATTAGCTTGGTGTGTGGGAGCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACTCAGGAGGCAGAGAGTGCAGTGAGCCGAGATCGTGCCATTGCACTCCTGTCTGGGTGACAAGAAAAAAAAAAGGAGTTGGGGGAATCAGATGAAAGATAGGAGAAAGGTTTATCTCAAAGCCAACACAAATGACTTCATACCAATACTTTATCCCCCATCATTTCCCAACTCTGCTCCCAGCATCCTTCCCATCAGAACACCCTGGGTTCCCCAGCCTTGAACCCACTGTGAACCCTATTTGCCCTCCCTACAGAGGCTGTGGTCAGCAGTGGGCGAGTGGAAAAGTCCCCACATGAACAGGAGATTAAATTCTTTGCCAAGGTGAGAGGTGGGCTTAGAAGCTGGAGGGCGCTGGGGACTCATAGGCTCTCCCCACCCCTCATTGGACCCTTTATCTCCCCCAACCCGTCTCCAGATCCTGCTCCCTTTGATCAACCAGTACTTCACCAACCACTGCCTCTATTTCTTGTCCACTCCGGCTAAAGTGCTGGGCAGCGGTGGCCACGCCTCTAACAAGGAGAAGGAAATGATCACCAGGTGGGCCGCCTGTGACCCTGGACCCAGCCCCCTGACCTCACAGGATTGTAATCCTTTGCCCATGGAGGCTCTGTCCTGGGTGCTGGGTGTTGGGTACTGACCGTCTCCTGCAAAGGCGATTGAAGGGTGACCAGCCATCCTAGTGTACCCGGGACTGAAGGGTTTCCCAGGATGTGGGACTCTCAGGCAACTTGGGACAAATCGATCACCCTGTCCAGGAAGGCCAACTCAAGGCCGGGCGTGGTGGCTCATGCCTGTAATTCCAACACTTTGGGAAGCTGAGGTGGGAAGATCACTTGAAGCCAGGAGTTTGAGGCCAGCCTGGGCAACATACTGAGACCCCATTTCTACAAAAAATACAAAAATTAGCCGGGCTTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGGATCACTTGAACCCAGGAGTTGGAGGCTGCAGGGAGCTGGGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAATAAACAAACAAAGAATAATAAGAAAGGCTGACTCACCCCTCACCTCCCCAGCATCCCAGTTACTGCCTGTGACATTCCAGCTTGCCCATCTCTCTGCCCCTTCCCATCCCTCCTGTCTCCATCATTTGGACCCCCTCCTGGTTCCTCTCTCCTTGTCTTCTCTGTCCCTGTCTCCTCTAATTGGGTCACGCTGTCCTCGTCTCCTTGGCCTCCTCACTCGCTGTTTCTCCTGCCTTCTGTCCCTTTCTCTTTCTTCAGCCTCTTCTGCAAACTTGCTGCTCTCGTCCGCCACCGAGTCTCTCTCTTTGGTAAGTGGCTCCACACCTTCGGTCTTCCTCCCTAATCTTTCTCTTCCCCACCCTGAAGAAATAGCTCCCAGGTTCTGCCTTAATTTGAACAACCTTTGTTGTTTTCTTCCCCTGGACCTGGAGACATGGACCAGGTATCCGGGGGGTAGGGCAGTGACTGAGATGCCCTGGGCCTGCCCTCAATGGAGCTCCCAGGCCAGTGGGAGAGACAGACCTATCTCCAGACAAGGACAGCCCAGTGGGGTCAGGGCTGGGCAGGAGGAAGGCCAGGAGAGTGGTTGGGCTGGGGAGGAGGGACATTTGGAGGCGCTGTAGGAGTCTGGGGGGGTGGGGGTGCAGTAGCATTCCAACTTAGCCCGCAGGTAGCCTCAGGAAGAGAGCGGTTGGGGTGGATGTAGAGGGAGGCACTGTCCTCTGTCCTCTTAGCCATGGCATCCCCCCGGCCCATCTTCCTCTCCCAGGGACAGACGCCCCAGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAGGTAGGGCCATAGGCAGTGGCGCCCACTCCCACCATCATCGGGCCCCCACCCCAACCCCTGGTCTCCTAGACTCTCCGATTCCAGAGCTGATGTTCCCCCGCTGCCCTTCTAGGACAGTGATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCGGAGGACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACCCAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGTGGCACTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCGTAAGGGCGCCTGACCCAAGGGCAGGTTGCGGGGAGTCAGTGTGGCCAACACCACCCATCCGGGTGCCTGTGAGAGTCCCTGGGTGTTTGAATGTGTGGATTTCTTGCTGTAAGCAAAGCATGCAGTCAGTACCTTGGCAGGTGGCAAATGAGTTAATGAGGACGCGAGCTCAGCAGCTCTAACAAAAGACCCTAAGTGGACTGGCGCAGTGACTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCAGGAGGACCGCTTGAGCTCAGGAGTTCAAGACCAGCTTGGGCAACATAGCGAGACCCTGTCTCTACTAAAAAAAAAAAGAAAAATTTAAAGATTAGCCAGGCATGGAGGCACATGCCTGTAATCCCAGCTACTGGGGAGGCTGACAAGGGAGGATCACTTGAGTCCAAGAGTTGGAGGCTGCAATGAGCTATGATCATACCACTGCACTCCAGCCTGGACAACAGAGCAAAATTCTGTCTCTAAAATAAATAAATAATAAAATAGGGTCCTTGATGTTAAAAAAGAGAGTCTATTGATAAAGGTTAGGAAAAGTAGCACTTGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGCTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCTTGTCTCTACTAAAATACAAAAATTAGCCGGGCATGGTGGTGGTCGCCTATAATCCTAGCTACCTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGCACCAAGATCGTGCCATTGCACGCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAGAAAAGAAAAGTAGCAGTTGGTGGCCAGCCACAGTGACTCATATCTGTAATTCCAGCACTTTGGGAGGCCAAGGTAGGAAGATCTCTTGAGCCCAGGATTTCAAGACCAACCTGGGCAACATAGCAAAACCCCATCTTAAAAAAAAGAAGAAAAGAAAAGTAGCACCTGGATAGGGTTCTTCTCCCATCCAACTTTGTATTTTGAAATTTTCAAAACATACAGGAAGGTAGAAAGAAGAAAATTGTTGGCGGGGCAT
|
ACTGCAGTGGCGCGATCTCAGCTCACTGCAGGCTCCGCCTCCAGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATTTGGTTCATTCATTCATTTATTGCAGATTAACTCAGTGCCATGTATTCAAGTTTAGAATGAAAAGCACTTATGGTGGGTGAGGAAGGGCATGTTCCATGACCTTAACCCATTCCAGTTTGTTTTCCCCATTGTCAGCTTCAGAAAGGGTTTGATCAAGGAGTTGTCAGCTTCAAGAAGGATTTGATCAAGAAGTTGGGGGAAAGCACATTGGGAGGTTGAGGCGGGTGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGACAACATGGTGAAACCTTGGCTGTACTAAAAATACAAAAATTAGCTTGGTGTGTGGGAGCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACTCAGGAGGCAGAGAGTGCAGTGAGCCGAGATCGTGCCATTGCACTCCTGTCTGGGTGACAAGAAAAAAAAAAGGAGTTGGGGGAATCAGATGAAAGATAGGAGAAAGGTTTATCTCAAAGCCAACACAAATGACTTCATACCAATACTTTATCCCCCATCATTTCCCAACTCTGCTCCCAGCATCCTTCCCATCAGAACACCCTGGGTTCCCCAGCCTTGAACCCACTGTGAACCCTATTTGCCCTCCCTACAGAGGCTGTGGTCAGCAGTGGGCGAGTGGAAAAGTCCCCACATGAACAGGAGATTAAATTCTTTGCCAAGGTGAGAGGTGGGCTTAGAAGCTGGAGGGCGCTGGGGACTCATAGGCTCTCCCCACCCCTCATTGGACCCTTTATCTCCCCCAACCCGTCTCCAGATCCTGCTCCCTTTGATCAACCAGTACTTCACCAACCACTGCCTCTATTTCTTGTCCACTCCGGCTAAAGTGCTGGGCAGCGGTGGCCACGCCTCTAACAAGGAGAAGGAAATGATCACCAGGTGGGCCGCCTGTGACCCTGGACCCAGCCCCCTGACCTCACAGGATTGTAATCCTTTGCCCATGGAGGCTCTGTCCTGGGTGCTGGGTGTTGGGTACTGACCGTCTCCTGCAAAGGCGATTGAAGGGTGACCAGCCATCCTAGTGTACCCGGGACTGAAGGGTTTCCCAGGATGTGGGACTCTCAGGCAACTTGGGACAAATCGATCACCCTGTCCAGGAAGGCCAACTCAAGGCCGGGCGTGGTGGCTCATGCCTGTAATTCCAACACTTTGGGAAGCTGAGGTGGGAAGATCACTTGAAGCCAGGAGTTTGAGGCCAGCCTGGGCAACATACTGAGACCCCATTTCTACAAAAAATACAAAAATTAGCCGGGCTTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGGATCACTTGAACCCAGGAGTTGGAGGCTGCAGGGAGCTGGGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAATAAACAAACAAAGAATAATAAGAAAGGCTGACTCACCCCTCACCTCCCCAGCATCCCAGTTACTGCCTGTGACATTCCAGCTTGCCCATCTCTCTGCCCCTTCCCATCCCTCCTGTCTCCATCATTTGGACCCCCTCCTGGTTCCTCTCTCCTTGTCTTCTCTGTCCCTGTCTCCTCTAATTGGGTCACGCTGTCCTCGTCTCCTTGGCCTCCTCACTCGCTGTTTCTCCTGCCTTCTGTCCCTTTCTCTTCTTCAGCCTCTTCTGCAAACTTGCTGCTCTCGTCCGCCACCGAGTCTCTCTCTTTGGTAAGTGGCTCCACACCTTCGGTCTTCCTCCCTAATCTTTCTCTTCCCCACCCTGAAGAAATAGCTCCCAGGTTCTGCCTTAATTTGAACAACCTTTGTTGTTTTCTTCCCCTGGACCTGGAGACATGGACCAGGTATCCGGGGGGTAGGGCAGTGACTGAGATGCCCTGGGCCTGCCCTCAATGGAGCTCCCAGGCCAGTGGGAGAGACAGACCTATCTCCAGACAAGGACAGCCCAGTGGGGTCAGGGCTGGGCAGGAGGAAGGCCAGGAGAGTGGTTGGGCTGGGGAGGAGGGACATTTGGAGGCGCTGTAGGAGTCTGGGGGGGTGGGGGTGCAGTAGCATTCCAACTTAGCCCGCAGGTAGCCTCAGGAAGAGAGCGGTTGGGGTGGATGTAGAGGGAGGCACTGTCCTCTGTCCTCTTAGCCATGGCATCCCCCCGGCCCATCTTCCTCTCCCAGGGACAGACGCCCCAGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAGGTAGGGCCATAGGCAGTGGCGCCCACTCCCACCATCATCGGGCCCCCACCCCAACCCCTGGTCTCCTAGACTCTCCGATTCCAGAGCTGATGTTCCCCCGCTGCCCTTCTAGGACAGTGATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCGGAGGACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACCCAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGTGGCACTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCGTAAGGGCGCCTGACCCAAGGGCAGGTTGCGGGGAGTCAGTGTGGCCAACACCACCCATCCGGGTGCCTGTGAGAGTCCCTGGGTGTTTGAATGTGTGGATTTCTTGCTGTAAGCAAAGCATGCAGTCAGTACCTTGGCAGGTGGCAAATGAGTTAATGAGGACGCGAGCTCAGCAGCTCTAACAAAAGACCCTAAGTGGACTGGCGCAGTGACTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCAGGAGGACCGCTTGAGCTCAGGAGTTCAAGACCAGCTTGGGCAACATAGCGAGACCCTGTCTCTACTAAAAAAAAAAAGAAAAATTTAAAGATTAGCCAGGCATGGAGGCACATGCCTGTAATCCCAGCTACTGGGGAGGCTGACAAGGGAGGATCACTTGAGTCCAAGAGTTGGAGGCTGCAATGAGCTATGATCATACCACTGCACTCCAGCCTGGACAACAGAGCAAAATTCTGTCTCTAAAATAAATAAATAATAAAATAGGGTCCTTGATGTTAAAAAAGAGAGTCTATTGATAAAGGTTAGGAAAAGTAGCACTTGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGCTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCTTGTCTCTACTAAAATACAAAAATTAGCCGGGCATGGTGGTGGTCGCCTATAATCCTAGCTACCTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGCACCAAGATCGTGCCATTGCACGCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAGAAAAGAAAAGTAGCAGTTGGTGGCCAGCCACAGTGACTCATATCTGTAATTCCAGCACTTTGGGAGGCCAAGGTAGGAAGATCTCTTGAGCCCAGGATTTCAAGACCAACCTGGGCAACATAGCAAAACCCCATCTTAAAAAAAAGAAGAAAAGAAAAGTAGCACCTGGATAGGGTTCTTCTCCCATCCAACTTTGTATTTTGAAATTTTCAAAACATACAGGAAGGTAGAAAGAAGAAAATTGTTGGCGGGGCATN
|
benign
| 303,949 |
Benign or pathogenic: chromosome 19, position 38511598, gene RYR1 (ryanodine receptor 1) variant? Disease(s) if pathogenic?
|
pathogenic; ['Malignant_hyperthermia,_susceptibility_to,_1', 'Myopathy,_RYR1-associated', 'RYR1-related_disorder']
|
CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATTTGGTTCATTCATTCATTTATTGCAGATTAACTCAGTGCCATGTATTCAAGTTTAGAATGAAAAGCACTTATGGTGGGTGAGGAAGGGCATGTTCCATGACCTTAACCCATTCCAGTTTGTTTTCCCCATTGTCAGCTTCAGAAAGGGTTTGATCAAGGAGTTGTCAGCTTCAAGAAGGATTTGATCAAGAAGTTGGGGGAAAGCACATTGGGAGGTTGAGGCGGGTGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGACAACATGGTGAAACCTTGGCTGTACTAAAAATACAAAAATTAGCTTGGTGTGTGGGAGCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACTCAGGAGGCAGAGAGTGCAGTGAGCCGAGATCGTGCCATTGCACTCCTGTCTGGGTGACAAGAAAAAAAAAAGGAGTTGGGGGAATCAGATGAAAGATAGGAGAAAGGTTTATCTCAAAGCCAACACAAATGACTTCATACCAATACTTTATCCCCCATCATTTCCCAACTCTGCTCCCAGCATCCTTCCCATCAGAACACCCTGGGTTCCCCAGCCTTGAACCCACTGTGAACCCTATTTGCCCTCCCTACAGAGGCTGTGGTCAGCAGTGGGCGAGTGGAAAAGTCCCCACATGAACAGGAGATTAAATTCTTTGCCAAGGTGAGAGGTGGGCTTAGAAGCTGGAGGGCGCTGGGGACTCATAGGCTCTCCCCACCCCTCATTGGACCCTTTATCTCCCCCAACCCGTCTCCAGATCCTGCTCCCTTTGATCAACCAGTACTTCACCAACCACTGCCTCTATTTCTTGTCCACTCCGGCTAAAGTGCTGGGCAGCGGTGGCCACGCCTCTAACAAGGAGAAGGAAATGATCACCAGGTGGGCCGCCTGTGACCCTGGACCCAGCCCCCTGACCTCACAGGATTGTAATCCTTTGCCCATGGAGGCTCTGTCCTGGGTGCTGGGTGTTGGGTACTGACCGTCTCCTGCAAAGGCGATTGAAGGGTGACCAGCCATCCTAGTGTACCCGGGACTGAAGGGTTTCCCAGGATGTGGGACTCTCAGGCAACTTGGGACAAATCGATCACCCTGTCCAGGAAGGCCAACTCAAGGCCGGGCGTGGTGGCTCATGCCTGTAATTCCAACACTTTGGGAAGCTGAGGTGGGAAGATCACTTGAAGCCAGGAGTTTGAGGCCAGCCTGGGCAACATACTGAGACCCCATTTCTACAAAAAATACAAAAATTAGCCGGGCTTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGGATCACTTGAACCCAGGAGTTGGAGGCTGCAGGGAGCTGGGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAATAAACAAACAAAGAATAATAAGAAAGGCTGACTCACCCCTCACCTCCCCAGCATCCCAGTTACTGCCTGTGACATTCCAGCTTGCCCATCTCTCTGCCCCTTCCCATCCCTCCTGTCTCCATCATTTGGACCCCCTCCTGGTTCCTCTCTCCTTGTCTTCTCTGTCCCTGTCTCCTCTAATTGGGTCACGCTGTCCTCGTCTCCTTGGCCTCCTCACTCGCTGTTTCTCCTGCCTTCTGTCCCTTTCTCTTTCTTCAGCCTCTTCTGCAAACTTGCTGCTCTCGTCCGCCACCGAGTCTCTCTCTTTGGTAAGTGGCTCCACACCTTCGGTCTTCCTCCCTAATCTTTCTCTTCCCCACCCTGAAGAAATAGCTCCCAGGTTCTGCCTTAATTTGAACAACCTTTGTTGTTTTCTTCCCCTGGACCTGGAGACATGGACCAGGTATCCGGGGGGTAGGGCAGTGACTGAGATGCCCTGGGCCTGCCCTCAATGGAGCTCCCAGGCCAGTGGGAGAGACAGACCTATCTCCAGACAAGGACAGCCCAGTGGGGTCAGGGCTGGGCAGGAGGAAGGCCAGGAGAGTGGTTGGGCTGGGGAGGAGGGACATTTGGAGGCGCTGTAGGAGTCTGGGGGGGTGGGGGTGCAGTAGCATTCCAACTTAGCCCGCAGGTAGCCTCAGGAAGAGAGCGGTTGGGGTGGATGTAGAGGGAGGCACTGTCCTCTGTCCTCTTAGCCATGGCATCCCCCCGGCCCATCTTCCTCTCCCAGGGACAGACGCCCCAGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAGGTAGGGCCATAGGCAGTGGCGCCCACTCCCACCATCATCGGGCCCCCACCCCAACCCCTGGTCTCCTAGACTCTCCGATTCCAGAGCTGATGTTCCCCCGCTGCCCTTCTAGGACAGTGATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCGGAGGACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACCCAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGTGGCACTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCGTAAGGGCGCCTGACCCAAGGGCAGGTTGCGGGGAGTCAGTGTGGCCAACACCACCCATCCGGGTGCCTGTGAGAGTCCCTGGGTGTTTGAATGTGTGGATTTCTTGCTGTAAGCAAAGCATGCAGTCAGTACCTTGGCAGGTGGCAAATGAGTTAATGAGGACGCGAGCTCAGCAGCTCTAACAAAAGACCCTAAGTGGACTGGCGCAGTGACTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCAGGAGGACCGCTTGAGCTCAGGAGTTCAAGACCAGCTTGGGCAACATAGCGAGACCCTGTCTCTACTAAAAAAAAAAAGAAAAATTTAAAGATTAGCCAGGCATGGAGGCACATGCCTGTAATCCCAGCTACTGGGGAGGCTGACAAGGGAGGATCACTTGAGTCCAAGAGTTGGAGGCTGCAATGAGCTATGATCATACCACTGCACTCCAGCCTGGACAACAGAGCAAAATTCTGTCTCTAAAATAAATAAATAATAAAATAGGGTCCTTGATGTTAAAAAAGAGAGTCTATTGATAAAGGTTAGGAAAAGTAGCACTTGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGCTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCTTGTCTCTACTAAAATACAAAAATTAGCCGGGCATGGTGGTGGTCGCCTATAATCCTAGCTACCTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGCACCAAGATCGTGCCATTGCACGCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAGAAAAGAAAAGTAGCAGTTGGTGGCCAGCCACAGTGACTCATATCTGTAATTCCAGCACTTTGGGAGGCCAAGGTAGGAAGATCTCTTGAGCCCAGGATTTCAAGACCAACCTGGGCAACATAGCAAAACCCCATCTTAAAAAAAAGAAGAAAAGAAAAGTAGCACCTGGATAGGGTTCTTCTCCCATCCAACTTTGTATTTTGAAATTTTCAAAACATACAGGAAGGTAGAAAGAAGAAAATTGTTGGCGGGGCATGGTGGCTCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCACAA
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CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGTTAATTTTTTGTGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTATTATTATTTTAATAGTATCAGTTATGACTGTCACCATTATTATTGTTTGAAATTTATTTCCATTTTGAAATTAACTCTAATTTGTTTACATTGACTTCTTGTTTCATTTGGTTCATTCATTCATTTATTGCAGATTAACTCAGTGCCATGTATTCAAGTTTAGAATGAAAAGCACTTATGGTGGGTGAGGAAGGGCATGTTCCATGACCTTAACCCATTCCAGTTTGTTTTCCCCATTGTCAGCTTCAGAAAGGGTTTGATCAAGGAGTTGTCAGCTTCAAGAAGGATTTGATCAAGAAGTTGGGGGAAAGCACATTGGGAGGTTGAGGCGGGTGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGACAACATGGTGAAACCTTGGCTGTACTAAAAATACAAAAATTAGCTTGGTGTGTGGGAGCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCGCTTGAACTCAGGAGGCAGAGAGTGCAGTGAGCCGAGATCGTGCCATTGCACTCCTGTCTGGGTGACAAGAAAAAAAAAAGGAGTTGGGGGAATCAGATGAAAGATAGGAGAAAGGTTTATCTCAAAGCCAACACAAATGACTTCATACCAATACTTTATCCCCCATCATTTCCCAACTCTGCTCCCAGCATCCTTCCCATCAGAACACCCTGGGTTCCCCAGCCTTGAACCCACTGTGAACCCTATTTGCCCTCCCTACAGAGGCTGTGGTCAGCAGTGGGCGAGTGGAAAAGTCCCCACATGAACAGGAGATTAAATTCTTTGCCAAGGTGAGAGGTGGGCTTAGAAGCTGGAGGGCGCTGGGGACTCATAGGCTCTCCCCACCCCTCATTGGACCCTTTATCTCCCCCAACCCGTCTCCAGATCCTGCTCCCTTTGATCAACCAGTACTTCACCAACCACTGCCTCTATTTCTTGTCCACTCCGGCTAAAGTGCTGGGCAGCGGTGGCCACGCCTCTAACAAGGAGAAGGAAATGATCACCAGGTGGGCCGCCTGTGACCCTGGACCCAGCCCCCTGACCTCACAGGATTGTAATCCTTTGCCCATGGAGGCTCTGTCCTGGGTGCTGGGTGTTGGGTACTGACCGTCTCCTGCAAAGGCGATTGAAGGGTGACCAGCCATCCTAGTGTACCCGGGACTGAAGGGTTTCCCAGGATGTGGGACTCTCAGGCAACTTGGGACAAATCGATCACCCTGTCCAGGAAGGCCAACTCAAGGCCGGGCGTGGTGGCTCATGCCTGTAATTCCAACACTTTGGGAAGCTGAGGTGGGAAGATCACTTGAAGCCAGGAGTTTGAGGCCAGCCTGGGCAACATACTGAGACCCCATTTCTACAAAAAATACAAAAATTAGCCGGGCTTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGGATCACTTGAACCCAGGAGTTGGAGGCTGCAGGGAGCTGGGATCGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTAAAAAAAATAAACAAACAAAGAATAATAAGAAAGGCTGACTCACCCCTCACCTCCCCAGCATCCCAGTTACTGCCTGTGACATTCCAGCTTGCCCATCTCTCTGCCCCTTCCCATCCCTCCTGTCTCCATCATTTGGACCCCCTCCTGGTTCCTCTCTCCTTGTCTTCTCTGTCCCTGTCTCCTCTAATTGGGTCACGCTGTCCTCGTCTCCTTGGCCTCCTCACTCGCTGTTTCTCCTGCCTTCTGTCCCTTTCTCTTTCTTCAGCCTCTTCTGCAAACTTGCTGCTCTCGTCCGCCACCGAGTCTCTCTTTGGTAAGTGGCTCCACACCTTCGGTCTTCCTCCCTAATCTTTCTCTTCCCCACCCTGAAGAAATAGCTCCCAGGTTCTGCCTTAATTTGAACAACCTTTGTTGTTTTCTTCCCCTGGACCTGGAGACATGGACCAGGTATCCGGGGGGTAGGGCAGTGACTGAGATGCCCTGGGCCTGCCCTCAATGGAGCTCCCAGGCCAGTGGGAGAGACAGACCTATCTCCAGACAAGGACAGCCCAGTGGGGTCAGGGCTGGGCAGGAGGAAGGCCAGGAGAGTGGTTGGGCTGGGGAGGAGGGACATTTGGAGGCGCTGTAGGAGTCTGGGGGGGTGGGGGTGCAGTAGCATTCCAACTTAGCCCGCAGGTAGCCTCAGGAAGAGAGCGGTTGGGGTGGATGTAGAGGGAGGCACTGTCCTCTGTCCTCTTAGCCATGGCATCCCCCCGGCCCATCTTCCTCTCCCAGGGACAGACGCCCCAGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAGGTAGGGCCATAGGCAGTGGCGCCCACTCCCACCATCATCGGGCCCCCACCCCAACCCCTGGTCTCCTAGACTCTCCGATTCCAGAGCTGATGTTCCCCCGCTGCCCTTCTAGGACAGTGATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCGGAGGACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACCCAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGTGGCACTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCGTAAGGGCGCCTGACCCAAGGGCAGGTTGCGGGGAGTCAGTGTGGCCAACACCACCCATCCGGGTGCCTGTGAGAGTCCCTGGGTGTTTGAATGTGTGGATTTCTTGCTGTAAGCAAAGCATGCAGTCAGTACCTTGGCAGGTGGCAAATGAGTTAATGAGGACGCGAGCTCAGCAGCTCTAACAAAAGACCCTAAGTGGACTGGCGCAGTGACTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCAGGAGGACCGCTTGAGCTCAGGAGTTCAAGACCAGCTTGGGCAACATAGCGAGACCCTGTCTCTACTAAAAAAAAAAAGAAAAATTTAAAGATTAGCCAGGCATGGAGGCACATGCCTGTAATCCCAGCTACTGGGGAGGCTGACAAGGGAGGATCACTTGAGTCCAAGAGTTGGAGGCTGCAATGAGCTATGATCATACCACTGCACTCCAGCCTGGACAACAGAGCAAAATTCTGTCTCTAAAATAAATAAATAATAAAATAGGGTCCTTGATGTTAAAAAAGAGAGTCTATTGATAAAGGTTAGGAAAAGTAGCACTTGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGCTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCTTGTCTCTACTAAAATACAAAAATTAGCCGGGCATGGTGGTGGTCGCCTATAATCCTAGCTACCTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGCACCAAGATCGTGCCATTGCACGCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAGAAAAGAAAAGTAGCAGTTGGTGGCCAGCCACAGTGACTCATATCTGTAATTCCAGCACTTTGGGAGGCCAAGGTAGGAAGATCTCTTGAGCCCAGGATTTCAAGACCAACCTGGGCAACATAGCAAAACCCCATCTTAAAAAAAAGAAGAAAAGAAAAGTAGCACCTGGATAGGGTTCTTCTCCCATCCAACTTTGTATTTTGAAATTTTCAAAACATACAGGAAGGTAGAAAGAAGAAAATTGTTGGCGGGGCATGGTGGCTCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCACAANN
|
pathogenic
| 303,951 |
Evaluate the clinical significance of the mutation at chromosome 19, position 38517571 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder']
|
GCGCGGTGGCTCACACCTGTGAGCACTTTGGGAGGCTGAGGCGGGAAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACTCCATCTCTACAAAAAAAAATTTTTTTTAATTAGCCTGGTGTGGTGTGGTGTAGTGGCGCTGGTGCCTGTAAATCCACCTACTCCTAAGGCTGAGATGGGGGGATCGCTTGAGCTCCAGCCTGAGCAGCATAGGGAGACTGCATCTCTACAAAAACGACTTTTTTTAAAACTAGCTAGGCATGGTATGGTGTGTGCCTGTAATCCCAGCGACTCAGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAATGTGAGGTTGCTGTGAGCCAAGATCAGGCCACTGCACTGCAGCCTGAGTAACAGAGCGAGACCCTGTCTTAAAAAACAAAACAAGTGGCACACATGGATGAATGGCAGCTCTGTCCCAAAGGGTTCTGGGAGGAGCCGTTTCTATGGAGATGGGGCTGGGACCCAGGACCCCAAAGAGGGGGACACGTGGCAGCTAAACACAGCCCCGTCTTCCAGGCTTCGGCCAGCCCTCGGGGAGTGCCTGGCCCGTCTGGCAGCAGCCATGCCGGTGGCGTTCCTGGAGCCGCAGCTGAACGAGTACAACGCCTGCTCCGTGTACACCACCAAGTCTCCGCGGGAGCGGGCCAGTAAGCTGTGTGGGGCGGGAGCAGTGCTGGGAGTCCAAATCTCCCCAGCACAGGGCCTTGGGGAGACCCTAATTTGGGGGTAGTGTGGCTGGGCTGGGCTGTGAGCGGCTGAGGATTCCCCAGGTTGGGAGTGCCACACATTCAGGAACCCCAGAGTTTATGGTTCGGGGGCATTTCAAGGCCGTTACATGGGGAGAATTTAGAGATTAATTTGATTTTTGAAAACAGAATCTATTGATAAAAGTTAAGAAAAGTAGCACTTGGTGGCCAGGCGCAGTGGGTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGTCCAGGAGTTCAAGACCAACCTGGGCAACATAGCAAAACCCCATCCATGGAATTTGGAGCTATGGAATTTATTTTAGTGATGGTGACATTTGAGGGCATCATCAAGCTTGGAGACATAGGGTGAGGGGTATTTGAGCATAAGAGGATTGAGGGAAGGCAGGGTTCATTCATTCATTCAGCAAATATGTATCGAGCAGTTACTATGTATGAGGCGCTGTCCTAGTCACCTGAGGTTCAGCAGTGAACAGATAAAACAGACAAAAATCCCCTGAGTCCTGGGTCCAGAGGCTAGAATGAGGTGTGGACCTGGGGGAAATATACGCTCCAAGGCAGGAAACTTGTCTTCTTGGTCAGCTGTTCTCCCAGAATGGCACCTGGCCCAGAGTCAGCAAGTGAGCAAGTGACAGGTTGTCGGTTTCAAGGGACTGAACCGGGTGTGGGATTCAGAGAGACAAGGCGGGGAGACAGGGTGGGGTTGGAAAAGGTCTCTTTTGGAGTATGCTGTACAGCAGGGGTGAGGGGAATGGGCTTGGGATGTGGGAGATTTTAGGAGGGAAGGTTTCTAGGGGTGAGATTTTAGGGAGCAGACAGGCTCGGGGGTGTGAAGTGTTTGCGGGGCCACTGAGTTTCAATGTGAGGGTTGGGAGAGGTAGTTGGGTTGGAGGGTGAGATGGGAAGAATAGGGTTTGGGAGACTGTTTAAGGGGGGTGGCAATTCAATGGTGTCTGATGTATTGCGGGGGAGGCCAGGGCACTGAGGTCTGGGGGTGATGGCTTGACATTCCCTGCCCCCGTCCCTGTACCCCAGTCCTGGGGCTCCCCAACAGTGTGGAGGAGATGTGTCCCGACATCCCGGTGCTGGAGCGGCTCATGGCAGACATTGGGGGGCTGGCCGAGTCAGGTGCCCGCTACACAGAGATGCCGCATGTCATCGAGATCACGCTGCCCATGCTATGCAGCTACCTGCCCCGATGGTGGGAGCGCGGGCCCGAGGCACCCCCTTCCGCCCTGCCCGCCGGCGCCCCCCCACCCTGCACAGCTGTCACCTCTGACCACCTCAACTCCCTGCTGGGGAATATCCTGAGAATCATCGTCAACAACCTGGGCATTGACGAGGCCTCCTGGATGAAGCGGCTGGCTGGTGGGTCGGGGGGCACTGGGCCTCTGAGGGGTGGGTCAGCAGCCTGGGCTCCCTTGGCAGATGGTCTGAAAGGGAGACCCATGGTCCCCTCGGAGTTGGGAGGAGTCAGAGTGTAGGTTTTTTCAGCATCAAAAGACCAGGGGTCAGCTGGGCACCGTGGCTCACAGCTGTAACACCAACACTTTGGGAGGATCAGTTGAGGCCAGCCATTTGCGACCAGCCTAGGTAACATAGCACGACCCCATCTCTTTAAAAAACAAAACAAAACTTTTTTTTAATTAGCCAGGTGTGGTGGCACATGCTTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTGTGATTGCACCACTGTACTCCAGCCTGGGTGACAGAGTGAGATACTCTCTCAAAACAAACAAACAAAACAAAAGGAAAGAAAGAAGGAAGGATGGAGTGAGAGAGGGAGGGAATAAAAGGGAAGGAAAGAAGGAAGGAAGGCAGGAAGGAAGGAAGGAAGAAATGGATCCTCAAAGCGTTAGGTTTCCTGATTCAGAAGTTTCATGTCAGGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGTGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGGCAACATGGTGAAACCTCGTCTCTATTATTTAAAAAAAAAAAAAAAAAAAAAAGAAATATTTGTGTAAGGAAACAGGTTGTAGATCAGGGTCAACCTAGAAATCAGGAGCTGGGATCAGAGGCCAGGGTAAGGGGCCAGAGGCTGGGGTAAGAAGCCCATTCACAACCTTGGGGTCATAGCCAGAAATCACATAGTGAGGTAAGACTCTGGGTATGGGCCAGGTCAGAGGTTAAAGATTGGGGTCAGGGGTCATGCTAGTTAAGGGTGAGGTAACAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTATGGGAGGCCGAGGCGGGTGGATCTCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGACGCCTGTAATCCCAGCTACTCGGGGCTGAGGCAGGAAAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGTCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAGTTAGGTAACAGGTGAGGCGTCTGTTGTTGGGGGTCAGAGGTCAGGGATTTGTGCCAGGCTGGGGTCACAGGATAGGGACTGGGTCTTAGGTTCAGGTTAGGGGCTATGGCTGGGATCAGTGTTCAGGGACTATATCCAAGGTTAGGGTCAGGCTGGGGTCAAATGGCAGCTGCTAGGTTGGAGATGCTGTTTGGGAGTCGGGCTGGGAACGGAGTTTGGGGCCTGTGTCAGAGGCCGGAGGTGGCATCAGAGCCCATCGCACCCCTGCAGTGTTCGCACAGCCCATTGTGAGCCGTGCACGGCCGGAGCTCCTGCAGTCCCACTTCATCCCAACTATCGGGCGGCTGCGCAAGAGGGCAGGGAAGGTGGTGTCCGAGGAGGAGCAGCTGCGCCTGGAGGCCAAGGCGGAGGCCCAGGAGGGCGAGCTGCTGGTGCGGGACGAGTTCTCTGTGCTCTGCCGGGACCTCTACGCCCTGTATCCGCTGCTCATCCGCTACGTGGACAACAACAGGTCAGCGGGGCCCCGCTGTCCCCATGCCCTCCGCCCCGACCTCCCACGTCCTCCAGCCCCATCTGATCTCCGCCTCCTGACTGGCTAGAAACTTCTTCCAATGCTCTGGCCCCACCAACCTTCTGACTCTTCCTCCTGGTTTCTTCTGGCTTTGAGCACATTGG
|
GCGCGGTGGCTCACACCTGTGAGCACTTTGGGAGGCTGAGGCGGGAAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACTCCATCTCTACAAAAAAAAATTTTTTTTAATTAGCCTGGTGTGGTGTGGTGTAGTGGCGCTGGTGCCTGTAAATCCACCTACTCCTAAGGCTGAGATGGGGGGATCGCTTGAGCTCCAGCCTGAGCAGCATAGGGAGACTGCATCTCTACAAAAACGACTTTTTTTAAAACTAGCTAGGCATGGTATGGTGTGTGCCTGTAATCCCAGCGACTCAGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAATGTGAGGTTGCTGTGAGCCAAGATCAGGCCACTGCACTGCAGCCTGAGTAACAGAGCGAGACCCTGTCTTAAAAAACAAAACAAGTGGCACACATGGATGAATGGCAGCTCTGTCCCAAAGGGTTCTGGGAGGAGCCGTTTCTATGGAGATGGGGCTGGGACCCAGGACCCCAAAGAGGGGGACACGTGGCAGCTAAACACAGCCCCGTCTTCCAGGCTTCGGCCAGCCCTCGGGGAGTGCCTGGCCCGTCTGGCAGCAGCCATGCCGGTGGCGTTCCTGGAGCCGCAGCTGAACGAGTACAACGCCTGCTCCGTGTACACCACCAAGTCTCCGCGGGAGCGGGCCAGTAAGCTGTGTGGGGCGGGAGCAGTGCTGGGAGTCCAAATCTCCCCAGCACAGGGCCTTGGGGAGACCCTAATTTGGGGGTAGTGTGGCTGGGCTGGGCTGTGAGCGGCTGAGGATTCCCCAGGTTGGGAGTGCCACACATTCAGGAACCCCAGAGTTTATGGTTCGGGGGCATTTCAAGGCCGTTACATGGGGAGAATTTAGAGATTAATTTGATTTTTGAAAACAGAATCTATTGATAAAAGTTAAGAAAAGTAGCACTTGGTGGCCAGGCGCAGTGGGTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGTCCAGGAGTTCAAGACCAACCTGGGCAACATAGCAAAACCCCATCCATGGAATTTGGAGCTATGGAATTTATTTTAGTGATGGTGACATTTGAGGGCATCATCAAGCTTGGAGACATAGGGTGAGGGGTATTTGAGCATAAGAGGATTGAGGGAAGGCAGGGTTCATTCATTCATTCAGCAAATATGTATCGAGCAGTTACTATGTATGAGGCGCTGTCCTAGTCACCTGAGGTTCAGCAGTGAACAGATAAAACAGACAAAAATCCCCTGAGTCCTGGGTCCAGAGGCTAGAATGAGGTGTGGACCTGGGGGAAATATACGCTCCAAGGCAGGAAACTTGTCTTCTTGGTCAGCTGTTCTCCCAGAATGGCACCTGGCCCAGAGTCAGCAAGTGAGCAAGTGACAGGTTGTCGGTTTCAAGGGACTGAACCGGGTGTGGGATTCAGAGAGACAAGGCGGGGAGACAGGGTGGGGTTGGAAAAGGTCTCTTTTGGAGTATGCTGTACAGCAGGGGTGAGGGGAATGGGCTTGGGATGTGGGAGATTTTAGGAGGGAAGGTTTCTAGGGGTGAGATTTTAGGGAGCAGACAGGCTCGGGGGTGTGAAGTGTTTGCGGGGCCACTGAGTTTCAATGTGAGGGTTGGGAGAGGTAGTTGGGTTGGAGGGTGAGATGGGAAGAATAGGGTTTGGGAGACTGTTTAAGGGGGGTGGCAATTCAATGGTGTCTGATGTATTGCGGGGGAGGCCAGGGCACTGAGGTCTGGGGGTGATGGCTTGACATTCCCTGCCCCCGTCCCTGTACCCCAGTCCTGGGGCTCCCCAACAGTGTGGAGGAGATGTGTCCCGACATCCCGGTGCTGGAGCGGCTCATGGCAGACATTGGGGGGCTGGCCGAGTCAGGTGCCCGCTACACAGAGATGCCGCATGTCATCGAGATCACGCTGCCCATGCTATGCAGCTACCTGCCCCGATGGTGGGAGCGCGGGCCCGAGGCACCCCCTTCCGCCCTGCCCGCCGGCGCCCCCCCCACCCTGCACAGCTGTCACCTCTGACCACCTCAACTCCCTGCTGGGGAATATCCTGAGAATCATCGTCAACAACCTGGGCATTGACGAGGCCTCCTGGATGAAGCGGCTGGCTGGTGGGTCGGGGGGCACTGGGCCTCTGAGGGGTGGGTCAGCAGCCTGGGCTCCCTTGGCAGATGGTCTGAAAGGGAGACCCATGGTCCCCTCGGAGTTGGGAGGAGTCAGAGTGTAGGTTTTTTCAGCATCAAAAGACCAGGGGTCAGCTGGGCACCGTGGCTCACAGCTGTAACACCAACACTTTGGGAGGATCAGTTGAGGCCAGCCATTTGCGACCAGCCTAGGTAACATAGCACGACCCCATCTCTTTAAAAAACAAAACAAAACTTTTTTTTAATTAGCCAGGTGTGGTGGCACATGCTTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTGTGATTGCACCACTGTACTCCAGCCTGGGTGACAGAGTGAGATACTCTCTCAAAACAAACAAACAAAACAAAAGGAAAGAAAGAAGGAAGGATGGAGTGAGAGAGGGAGGGAATAAAAGGGAAGGAAAGAAGGAAGGAAGGCAGGAAGGAAGGAAGGAAGAAATGGATCCTCAAAGCGTTAGGTTTCCTGATTCAGAAGTTTCATGTCAGGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGTGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGGCAACATGGTGAAACCTCGTCTCTATTATTTAAAAAAAAAAAAAAAAAAAAAAGAAATATTTGTGTAAGGAAACAGGTTGTAGATCAGGGTCAACCTAGAAATCAGGAGCTGGGATCAGAGGCCAGGGTAAGGGGCCAGAGGCTGGGGTAAGAAGCCCATTCACAACCTTGGGGTCATAGCCAGAAATCACATAGTGAGGTAAGACTCTGGGTATGGGCCAGGTCAGAGGTTAAAGATTGGGGTCAGGGGTCATGCTAGTTAAGGGTGAGGTAACAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTATGGGAGGCCGAGGCGGGTGGATCTCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGACGCCTGTAATCCCAGCTACTCGGGGCTGAGGCAGGAAAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGTCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAGTTAGGTAACAGGTGAGGCGTCTGTTGTTGGGGGTCAGAGGTCAGGGATTTGTGCCAGGCTGGGGTCACAGGATAGGGACTGGGTCTTAGGTTCAGGTTAGGGGCTATGGCTGGGATCAGTGTTCAGGGACTATATCCAAGGTTAGGGTCAGGCTGGGGTCAAATGGCAGCTGCTAGGTTGGAGATGCTGTTTGGGAGTCGGGCTGGGAACGGAGTTTGGGGCCTGTGTCAGAGGCCGGAGGTGGCATCAGAGCCCATCGCACCCCTGCAGTGTTCGCACAGCCCATTGTGAGCCGTGCACGGCCGGAGCTCCTGCAGTCCCACTTCATCCCAACTATCGGGCGGCTGCGCAAGAGGGCAGGGAAGGTGGTGTCCGAGGAGGAGCAGCTGCGCCTGGAGGCCAAGGCGGAGGCCCAGGAGGGCGAGCTGCTGGTGCGGGACGAGTTCTCTGTGCTCTGCCGGGACCTCTACGCCCTGTATCCGCTGCTCATCCGCTACGTGGACAACAACAGGTCAGCGGGGCCCCGCTGTCCCCATGCCCTCCGCCCCGACCTCCCACGTCCTCCAGCCCCATCTGATCTCCGCCTCCTGACTGGCTAGAAACTTCTTCCAATGCTCTGGCCCCACCAACCTTCTGACTCTTCCTCCTGGTTTCTTCTGGCTTTGAGCACATTG
|
pathogenic
| 304,008 |
Is chromosome 19, position 38517653, gene RYR1 (ryanodine receptor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['RYR1-related_disorder']
|
GCAACATAGTGAGACTCCATCTCTACAAAAAAAAATTTTTTTTAATTAGCCTGGTGTGGTGTGGTGTAGTGGCGCTGGTGCCTGTAAATCCACCTACTCCTAAGGCTGAGATGGGGGGATCGCTTGAGCTCCAGCCTGAGCAGCATAGGGAGACTGCATCTCTACAAAAACGACTTTTTTTAAAACTAGCTAGGCATGGTATGGTGTGTGCCTGTAATCCCAGCGACTCAGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAATGTGAGGTTGCTGTGAGCCAAGATCAGGCCACTGCACTGCAGCCTGAGTAACAGAGCGAGACCCTGTCTTAAAAAACAAAACAAGTGGCACACATGGATGAATGGCAGCTCTGTCCCAAAGGGTTCTGGGAGGAGCCGTTTCTATGGAGATGGGGCTGGGACCCAGGACCCCAAAGAGGGGGACACGTGGCAGCTAAACACAGCCCCGTCTTCCAGGCTTCGGCCAGCCCTCGGGGAGTGCCTGGCCCGTCTGGCAGCAGCCATGCCGGTGGCGTTCCTGGAGCCGCAGCTGAACGAGTACAACGCCTGCTCCGTGTACACCACCAAGTCTCCGCGGGAGCGGGCCAGTAAGCTGTGTGGGGCGGGAGCAGTGCTGGGAGTCCAAATCTCCCCAGCACAGGGCCTTGGGGAGACCCTAATTTGGGGGTAGTGTGGCTGGGCTGGGCTGTGAGCGGCTGAGGATTCCCCAGGTTGGGAGTGCCACACATTCAGGAACCCCAGAGTTTATGGTTCGGGGGCATTTCAAGGCCGTTACATGGGGAGAATTTAGAGATTAATTTGATTTTTGAAAACAGAATCTATTGATAAAAGTTAAGAAAAGTAGCACTTGGTGGCCAGGCGCAGTGGGTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGTCCAGGAGTTCAAGACCAACCTGGGCAACATAGCAAAACCCCATCCATGGAATTTGGAGCTATGGAATTTATTTTAGTGATGGTGACATTTGAGGGCATCATCAAGCTTGGAGACATAGGGTGAGGGGTATTTGAGCATAAGAGGATTGAGGGAAGGCAGGGTTCATTCATTCATTCAGCAAATATGTATCGAGCAGTTACTATGTATGAGGCGCTGTCCTAGTCACCTGAGGTTCAGCAGTGAACAGATAAAACAGACAAAAATCCCCTGAGTCCTGGGTCCAGAGGCTAGAATGAGGTGTGGACCTGGGGGAAATATACGCTCCAAGGCAGGAAACTTGTCTTCTTGGTCAGCTGTTCTCCCAGAATGGCACCTGGCCCAGAGTCAGCAAGTGAGCAAGTGACAGGTTGTCGGTTTCAAGGGACTGAACCGGGTGTGGGATTCAGAGAGACAAGGCGGGGAGACAGGGTGGGGTTGGAAAAGGTCTCTTTTGGAGTATGCTGTACAGCAGGGGTGAGGGGAATGGGCTTGGGATGTGGGAGATTTTAGGAGGGAAGGTTTCTAGGGGTGAGATTTTAGGGAGCAGACAGGCTCGGGGGTGTGAAGTGTTTGCGGGGCCACTGAGTTTCAATGTGAGGGTTGGGAGAGGTAGTTGGGTTGGAGGGTGAGATGGGAAGAATAGGGTTTGGGAGACTGTTTAAGGGGGGTGGCAATTCAATGGTGTCTGATGTATTGCGGGGGAGGCCAGGGCACTGAGGTCTGGGGGTGATGGCTTGACATTCCCTGCCCCCGTCCCTGTACCCCAGTCCTGGGGCTCCCCAACAGTGTGGAGGAGATGTGTCCCGACATCCCGGTGCTGGAGCGGCTCATGGCAGACATTGGGGGGCTGGCCGAGTCAGGTGCCCGCTACACAGAGATGCCGCATGTCATCGAGATCACGCTGCCCATGCTATGCAGCTACCTGCCCCGATGGTGGGAGCGCGGGCCCGAGGCACCCCCTTCCGCCCTGCCCGCCGGCGCCCCCCCACCCTGCACAGCTGTCACCTCTGACCACCTCAACTCCCTGCTGGGGAATATCCTGAGAATCATCGTCAACAACCTGGGCATTGACGAGGCCTCCTGGATGAAGCGGCTGGCTGGTGGGTCGGGGGGCACTGGGCCTCTGAGGGGTGGGTCAGCAGCCTGGGCTCCCTTGGCAGATGGTCTGAAAGGGAGACCCATGGTCCCCTCGGAGTTGGGAGGAGTCAGAGTGTAGGTTTTTTCAGCATCAAAAGACCAGGGGTCAGCTGGGCACCGTGGCTCACAGCTGTAACACCAACACTTTGGGAGGATCAGTTGAGGCCAGCCATTTGCGACCAGCCTAGGTAACATAGCACGACCCCATCTCTTTAAAAAACAAAACAAAACTTTTTTTTAATTAGCCAGGTGTGGTGGCACATGCTTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTGTGATTGCACCACTGTACTCCAGCCTGGGTGACAGAGTGAGATACTCTCTCAAAACAAACAAACAAAACAAAAGGAAAGAAAGAAGGAAGGATGGAGTGAGAGAGGGAGGGAATAAAAGGGAAGGAAAGAAGGAAGGAAGGCAGGAAGGAAGGAAGGAAGAAATGGATCCTCAAAGCGTTAGGTTTCCTGATTCAGAAGTTTCATGTCAGGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGTGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGGCAACATGGTGAAACCTCGTCTCTATTATTTAAAAAAAAAAAAAAAAAAAAAAGAAATATTTGTGTAAGGAAACAGGTTGTAGATCAGGGTCAACCTAGAAATCAGGAGCTGGGATCAGAGGCCAGGGTAAGGGGCCAGAGGCTGGGGTAAGAAGCCCATTCACAACCTTGGGGTCATAGCCAGAAATCACATAGTGAGGTAAGACTCTGGGTATGGGCCAGGTCAGAGGTTAAAGATTGGGGTCAGGGGTCATGCTAGTTAAGGGTGAGGTAACAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTATGGGAGGCCGAGGCGGGTGGATCTCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGACGCCTGTAATCCCAGCTACTCGGGGCTGAGGCAGGAAAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGTCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAGTTAGGTAACAGGTGAGGCGTCTGTTGTTGGGGGTCAGAGGTCAGGGATTTGTGCCAGGCTGGGGTCACAGGATAGGGACTGGGTCTTAGGTTCAGGTTAGGGGCTATGGCTGGGATCAGTGTTCAGGGACTATATCCAAGGTTAGGGTCAGGCTGGGGTCAAATGGCAGCTGCTAGGTTGGAGATGCTGTTTGGGAGTCGGGCTGGGAACGGAGTTTGGGGCCTGTGTCAGAGGCCGGAGGTGGCATCAGAGCCCATCGCACCCCTGCAGTGTTCGCACAGCCCATTGTGAGCCGTGCACGGCCGGAGCTCCTGCAGTCCCACTTCATCCCAACTATCGGGCGGCTGCGCAAGAGGGCAGGGAAGGTGGTGTCCGAGGAGGAGCAGCTGCGCCTGGAGGCCAAGGCGGAGGCCCAGGAGGGCGAGCTGCTGGTGCGGGACGAGTTCTCTGTGCTCTGCCGGGACCTCTACGCCCTGTATCCGCTGCTCATCCGCTACGTGGACAACAACAGGTCAGCGGGGCCCCGCTGTCCCCATGCCCTCCGCCCCGACCTCCCACGTCCTCCAGCCCCATCTGATCTCCGCCTCCTGACTGGCTAGAAACTTCTTCCAATGCTCTGGCCCCACCAACCTTCTGACTCTTCCTCCTGGTTTCTTCTGGCTTTGAGCACATTGGTCCAACGACAGCCAGCCCACTTGTTTGTTTCTTTTTGTTTTTGGTTTTTGGGTTTTTTTTTGTTTGTTTTTGTTTTTGGAGA
|
GCAACATAGTGAGACTCCATCTCTACAAAAAAAAATTTTTTTTAATTAGCCTGGTGTGGTGTGGTGTAGTGGCGCTGGTGCCTGTAAATCCACCTACTCCTAAGGCTGAGATGGGGGGATCGCTTGAGCTCCAGCCTGAGCAGCATAGGGAGACTGCATCTCTACAAAAACGACTTTTTTTAAAACTAGCTAGGCATGGTATGGTGTGTGCCTGTAATCCCAGCGACTCAGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAATGTGAGGTTGCTGTGAGCCAAGATCAGGCCACTGCACTGCAGCCTGAGTAACAGAGCGAGACCCTGTCTTAAAAAACAAAACAAGTGGCACACATGGATGAATGGCAGCTCTGTCCCAAAGGGTTCTGGGAGGAGCCGTTTCTATGGAGATGGGGCTGGGACCCAGGACCCCAAAGAGGGGGACACGTGGCAGCTAAACACAGCCCCGTCTTCCAGGCTTCGGCCAGCCCTCGGGGAGTGCCTGGCCCGTCTGGCAGCAGCCATGCCGGTGGCGTTCCTGGAGCCGCAGCTGAACGAGTACAACGCCTGCTCCGTGTACACCACCAAGTCTCCGCGGGAGCGGGCCAGTAAGCTGTGTGGGGCGGGAGCAGTGCTGGGAGTCCAAATCTCCCCAGCACAGGGCCTTGGGGAGACCCTAATTTGGGGGTAGTGTGGCTGGGCTGGGCTGTGAGCGGCTGAGGATTCCCCAGGTTGGGAGTGCCACACATTCAGGAACCCCAGAGTTTATGGTTCGGGGGCATTTCAAGGCCGTTACATGGGGAGAATTTAGAGATTAATTTGATTTTTGAAAACAGAATCTATTGATAAAAGTTAAGAAAAGTAGCACTTGGTGGCCAGGCGCAGTGGGTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGTCCAGGAGTTCAAGACCAACCTGGGCAACATAGCAAAACCCCATCCATGGAATTTGGAGCTATGGAATTTATTTTAGTGATGGTGACATTTGAGGGCATCATCAAGCTTGGAGACATAGGGTGAGGGGTATTTGAGCATAAGAGGATTGAGGGAAGGCAGGGTTCATTCATTCATTCAGCAAATATGTATCGAGCAGTTACTATGTATGAGGCGCTGTCCTAGTCACCTGAGGTTCAGCAGTGAACAGATAAAACAGACAAAAATCCCCTGAGTCCTGGGTCCAGAGGCTAGAATGAGGTGTGGACCTGGGGGAAATATACGCTCCAAGGCAGGAAACTTGTCTTCTTGGTCAGCTGTTCTCCCAGAATGGCACCTGGCCCAGAGTCAGCAAGTGAGCAAGTGACAGGTTGTCGGTTTCAAGGGACTGAACCGGGTGTGGGATTCAGAGAGACAAGGCGGGGAGACAGGGTGGGGTTGGAAAAGGTCTCTTTTGGAGTATGCTGTACAGCAGGGGTGAGGGGAATGGGCTTGGGATGTGGGAGATTTTAGGAGGGAAGGTTTCTAGGGGTGAGATTTTAGGGAGCAGACAGGCTCGGGGGTGTGAAGTGTTTGCGGGGCCACTGAGTTTCAATGTGAGGGTTGGGAGAGGTAGTTGGGTTGGAGGGTGAGATGGGAAGAATAGGGTTTGGGAGACTGTTTAAGGGGGGTGGCAATTCAATGGTGTCTGATGTATTGCGGGGGAGGCCAGGGCACTGAGGTCTGGGGGTGATGGCTTGACATTCCCTGCCCCCGTCCCTGTACCCCAGTCCTGGGGCTCCCCAACAGTGTGGAGGAGATGTGTCCCGACATCCCGGTGCTGGAGCGGCTCATGGCAGACATTGGGGGGCTGGCCGAGTCAGGTGCCCGCTACACAGAGATGCCGCATGTCATCGAGATCACGCTGCCCATGCTATGCAGCTACCTGCCCCGATGGTGGGAGCGCGGGCCCGAGGCACCCCCTTCCGCCCTGCCCGCCGGCGCCCCCCCACCCTGCACAGCTGTCACCTCTGACCACCTCAACTCCCTGCTGGGGAATATCCTGAGAATCATCGTCAACAACCTGGCATTGACGAGGCCTCCTGGATGAAGCGGCTGGCTGGTGGGTCGGGGGGCACTGGGCCTCTGAGGGGTGGGTCAGCAGCCTGGGCTCCCTTGGCAGATGGTCTGAAAGGGAGACCCATGGTCCCCTCGGAGTTGGGAGGAGTCAGAGTGTAGGTTTTTTCAGCATCAAAAGACCAGGGGTCAGCTGGGCACCGTGGCTCACAGCTGTAACACCAACACTTTGGGAGGATCAGTTGAGGCCAGCCATTTGCGACCAGCCTAGGTAACATAGCACGACCCCATCTCTTTAAAAAACAAAACAAAACTTTTTTTTAATTAGCCAGGTGTGGTGGCACATGCTTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTGTGATTGCACCACTGTACTCCAGCCTGGGTGACAGAGTGAGATACTCTCTCAAAACAAACAAACAAAACAAAAGGAAAGAAAGAAGGAAGGATGGAGTGAGAGAGGGAGGGAATAAAAGGGAAGGAAAGAAGGAAGGAAGGCAGGAAGGAAGGAAGGAAGAAATGGATCCTCAAAGCGTTAGGTTTCCTGATTCAGAAGTTTCATGTCAGGGCCAGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGTGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGGCAACATGGTGAAACCTCGTCTCTATTATTTAAAAAAAAAAAAAAAAAAAAAAGAAATATTTGTGTAAGGAAACAGGTTGTAGATCAGGGTCAACCTAGAAATCAGGAGCTGGGATCAGAGGCCAGGGTAAGGGGCCAGAGGCTGGGGTAAGAAGCCCATTCACAACCTTGGGGTCATAGCCAGAAATCACATAGTGAGGTAAGACTCTGGGTATGGGCCAGGTCAGAGGTTAAAGATTGGGGTCAGGGGTCATGCTAGTTAAGGGTGAGGTAACAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTATGGGAGGCCGAGGCGGGTGGATCTCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGACGCCTGTAATCCCAGCTACTCGGGGCTGAGGCAGGAAAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGTCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAGTTAGGTAACAGGTGAGGCGTCTGTTGTTGGGGGTCAGAGGTCAGGGATTTGTGCCAGGCTGGGGTCACAGGATAGGGACTGGGTCTTAGGTTCAGGTTAGGGGCTATGGCTGGGATCAGTGTTCAGGGACTATATCCAAGGTTAGGGTCAGGCTGGGGTCAAATGGCAGCTGCTAGGTTGGAGATGCTGTTTGGGAGTCGGGCTGGGAACGGAGTTTGGGGCCTGTGTCAGAGGCCGGAGGTGGCATCAGAGCCCATCGCACCCCTGCAGTGTTCGCACAGCCCATTGTGAGCCGTGCACGGCCGGAGCTCCTGCAGTCCCACTTCATCCCAACTATCGGGCGGCTGCGCAAGAGGGCAGGGAAGGTGGTGTCCGAGGAGGAGCAGCTGCGCCTGGAGGCCAAGGCGGAGGCCCAGGAGGGCGAGCTGCTGGTGCGGGACGAGTTCTCTGTGCTCTGCCGGGACCTCTACGCCCTGTATCCGCTGCTCATCCGCTACGTGGACAACAACAGGTCAGCGGGGCCCCGCTGTCCCCATGCCCTCCGCCCCGACCTCCCACGTCCTCCAGCCCCATCTGATCTCCGCCTCCTGACTGGCTAGAAACTTCTTCCAATGCTCTGGCCCCACCAACCTTCTGACTCTTCCTCCTGGTTTCTTCTGGCTTTGAGCACATTGGTCCAACGACAGCCAGCCCACTTGTTTGTTTCTTTTTGTTTTTGGTTTTTGGGTTTTTTTTTGTTTGTTTTTGTTTTTGGAGAN
|
pathogenic
| 304,013 |
Clinical significance of chromosome 19, position 38523128, gene RYR1 (ryanodine receptor 1): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
GCCTAGGCAACATGGCTAGACCCTGTCTCTACAAAAAAAGAAAAGAAATACAAAAATTAGTCAGGCATGGTGACACACACCTGTAGTCCTTGCCTCAGGCTGGGACTGGGAGGCTGAGGTGGGAGGATCGTTTGAGCCCAGGAGGTCAAAGCTGCAGTGAGCTATGATCACACCGCTGCACTCCAACCTGGGCAACAGAGATAGACCCTGTCTCAATAAGGTTTGTTTTTTTTTAATACAAGTAAATGAATAAAATAAAATATGTGAACCTACTTAGATTCTGACCCTGTCTCAAAAAAAAAAGAAATTTTATGCTGGGTGCAGTGGCTCGTGACTGTAATCCCAGCACTTTGGGTGGCCAAAGAGAGTGGATCACTCAAACTCAGTCTCAAACTCAGAAGTTTGAGACCAGCCTGGGCAACATGCAAAAACCCTGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATACCTGTAGTCCCAGCTAAGTACTCCTGAGTGGGAGGCTGAGGCAGGAGAATCACTTGGAACCTGGGAGGCAGAAGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAGAAAAAAAGAAAATTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTGTATTTTTTAGTAGAGATGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTGAAAGAAAAAATTTTAAAAAGTTTTTAGCCTAGAAGTTAGAATATGGATGATTTTTCAGGAGGAGGAAGGGGGAGTGGCTGGGAGGGGCCATGATAGTACTTCCAGGGACCAGAAATGTCCTATTTCTTGACTTCGGTGCTGGCTACACAAGTGTGTTCATTTGTGATAATTCACCAGGTTGATATTTCTTAATATGTAGGTTATATAATACATATGTATGTATCATGTGTGTCTATGTATTGCATGCATGTATTATATTTATGTATTTCGATGAAAAGGTTAGACAAAGTTTTTTAAAAAAGGAATAGTCAGGCCAGGGAAGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTCAGGGAAAGAGGATCTCTTGAGCCCAGGAGTTCAAGACCAGCCTGGACAACCTAGGGAGACCCTCTTCCTACAAAAAATAAAATAAAACATTAGCCAGGCCTGGGCATGGTGACGTGCACCTGTAGTCCCAGCTACTCAGGGAGGCTGAAGTGGGAGGATCACTTAAGCCTGGGAGGTTGAGGTTGCAGTGAGTGGAGATCGCATCACTGTACTCCAGCCTGACAGATTGAGACCCTGTCTCAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAATGGATCGTTAAAAAATTTTAAATGTTCAGCTGGGCACAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGTAAGGTCAAGAGTTCAAGACCAGCGTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGTGTGGTGTCGGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGAGAAAAAAAATTTTTTTAATGTTCATCTGCATGGCCAGATGACCCTAGAAACCCCATCCCTCTGACTGGATGTCTCCTGGTCCCCATCTCCTCCTCCAAGATCTCTCTCTGGGCAGCCCCCTTCCCTGGGATCCCCACCCCCTCCCTCACCTCCCCTCCGCTGACCCCAGGGCGCAGTGGCTGACGGAGCCGAATCCCAGCGCGGAGGAGCTGTTCAGGATGGTGGGCGAGATCTTCATCTACTGGTCCAAGTCCCACGTGAGTGCCCACCCCAACCGCCCTCCCCACAACCAGAGGAGCCGCAGCCCACAGGCGCCTGCCTTCACCTGTCCGGTCTGCAACACTGCTTCCCCCACCAGAACTTCAAGCGCGAGGAGCAGAACTTTGTGGTCCAGAATGAGATCAACAACATGTCCTTCCTGACTGCTGACAACAAAAGCAAAATGGCTAAGGTCGGGGCTTGGTTCTGGGAGGAGCACTTGGCAGAGAGGGCGGGAGCACCCTCTAGGACTTCCTACCTGGCCTGTCCTCACCCAGCCAGCCCGTCCTGGGCGCAATCCCTGCAGTCCTCAGAGCAGCCCCTCTTACCTCCTCTCCCTCTCCCTTCCTCCCCAGCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATCTCCCTCCTCCTCTCCATCTCCCTCTTCTCTCATCTCTGTCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATTTCCCTCCTCTCCATTTTCCTCTTCTCCAAGCCTCTCTCTCCTCCCATTTCCCTCCTCCTCCTCCTCCCCATTTTCCCCCTCTTCCATTTCTTTCTTCCTCTCCCCATTACCCCATTTCCTGCTTTCCTCCCTATCCTTCTCAGCACTGCCCTTCTCAGGTCTCAGAGAACGACCCCCCACCCCGAGCCAAGGCCTGGAAATGCCCAGCTAGAGAATACATGGCGGGTGGGGCAGAGGAGGTGGGGTGCTGGCAACTTGGAGTTGGGCCTGGGCTTCTCTGCGGGGCTGGGGTAACCCTTCTTGTCTCTGTCTGCGGTCCGGTGAAGCAGGCGGGAGATATACAGGTCAGCCCCACATCTGGGACCTTCCGCATGTCTCTTGGCTAATGCCCTCTTCCCCCAGCCTCTGCACGCCCCCGCCTCGAGAAAACCCCTGCTTCTGTTCCCCACCCCCGTCCTCCCCTCCCAGCCCCCACCCATCCTCCTTCCCTTCCCTTCCCTCCCCACCACCCCCATCCGTTCCCATCCCAACCCTCAGCTTTTGGCAATTTGACTTCTTTTCTTTTTCTTCTTTCCTTTTTTTTTTCTGGACTTTTGTTCCCAAAAAAAAAAAAAAAAAGAAAAAAAGAGCAACTCTCAGCTTTTACCAAAGCATCGTGGGCTGAGGTCAAGGGTAATGGGGGTGGGAGAGGCACACGGAGCATGGTTGGGGAGGGGGCAGCACCCTCGCCGTGGATGGTTTAAAGCTTGGGCTCTGGACTGTATGGACTGGGGTTAGAATCCTGTCTTGATAGTTAGCCGTGTGACCTTGGTTGGGGTCATCCTTTTGAGCCTCTGAGGGCATCCAGCCAGCAGCCCCCACCCCAGGGCTCTGCGAGGACTCAGGGAGAAGCTGCATGTGTGGCCTGCAGCAGTGCCTGGCACAGGGGTCATGCTCAAAGTTGCCAGCCGGCGTGGATGTGGCTCTGCCCAAAAGCTTGTCATCAGGGCTTCTCGCTGGCGTGACTGGGGTGGCCCTGGCCCCGGGTCTGCACCCAAGGCTCCAGAACACGGCTGTGGGACTCTGTGCCCTGTGTCTCTGCTTCCAGATCTTTCTGGATGTCTCTTGCATCTTTGGTCTTCCTGTCTCCTTGTCTTTTTCAGTCTCTCAGTGTCTTTTTCTTGCAACTTCTCTTGTCGCTTGAACTCTTTGTGGACCTGCATCTTTGTTTCATTCTTGAGAACTTGGTTTTGGGATGTGAAGTGTGGGGTTGTGCATGCTGTGGAGGGGGTATTGTACTGGGGTTCCTAGGGGATTCTGGAAGAGGACTGCTAGAAGTTGAGACAGGCCCAGAACGGGGGAAAATCTGGATGGGCCTGGGTTAGAAATTGGAGCCAGGCAAGCATGGTGGTATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGCCAAGAGTTCAAGTCCAGCCTGGGCAACATGGCAAGACACCATCTCTAAAAATAAATTTGTTTAAAAAACAAGAAACTGGGAATTTGGGTTGTGGACTTGGGTCTGGAGGGTCTCCGGTCATGGCTGTGGGCCTGAAGTGTAGAG
|
GCCTAGGCAACATGGCTAGACCCTGTCTCTACAAAAAAAGAAAAGAAATACAAAAATTAGTCAGGCATGGTGACACACACCTGTAGTCCTTGCCTCAGGCTGGGACTGGGAGGCTGAGGTGGGAGGATCGTTTGAGCCCAGGAGGTCAAAGCTGCAGTGAGCTATGATCACACCGCTGCACTCCAACCTGGGCAACAGAGATAGACCCTGTCTCAATAAGGTTTGTTTTTTTTTAATACAAGTAAATGAATAAAATAAAATATGTGAACCTACTTAGATTCTGACCCTGTCTCAAAAAAAAAAGAAATTTTATGCTGGGTGCAGTGGCTCGTGACTGTAATCCCAGCACTTTGGGTGGCCAAAGAGAGTGGATCACTCAAACTCAGTCTCAAACTCAGAAGTTTGAGACCAGCCTGGGCAACATGCAAAAACCCTGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATACCTGTAGTCCCAGCTAAGTACTCCTGAGTGGGAGGCTGAGGCAGGAGAATCACTTGGAACCTGGGAGGCAGAAGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAGAAAAAAAGAAAATTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCCCAGGCTGGGGTGCAGTGGTGCGATCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTGTATTTTTTAGTAGAGATGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTGAAAGAAAAAATTTTAAAAAGTTTTTAGCCTAGAAGTTAGAATATGGATGATTTTTCAGGAGGAGGAAGGGGGAGTGGCTGGGAGGGGCCATGATAGTACTTCCAGGGACCAGAAATGTCCTATTTCTTGACTTCGGTGCTGGCTACACAAGTGTGTTCATTTGTGATAATTCACCAGGTTGATATTTCTTAATATGTAGGTTATATAATACATATGTATGTATCATGTGTGTCTATGTATTGCATGCATGTATTATATTTATGTATTTCGATGAAAAGGTTAGACAAAGTTTTTTAAAAAAGGAATAGTCAGGCCAGGGAAGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTCAGGGAAAGAGGATCTCTTGAGCCCAGGAGTTCAAGACCAGCCTGGACAACCTAGGGAGACCCTCTTCCTACAAAAAATAAAATAAAACATTAGCCAGGCCTGGGCATGGTGACGTGCACCTGTAGTCCCAGCTACTCAGGGAGGCTGAAGTGGGAGGATCACTTAAGCCTGGGAGGTTGAGGTTGCAGTGAGTGGAGATCGCATCACTGTACTCCAGCCTGACAGATTGAGACCCTGTCTCAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAATGGATCGTTAAAAAATTTTAAATGTTCAGCTGGGCACAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGTAAGGTCAAGAGTTCAAGACCAGCGTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGTGTGGTGTCGGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGAGAAAAAAAATTTTTTTAATGTTCATCTGCATGGCCAGATGACCCTAGAAACCCCATCCCTCTGACTGGATGTCTCCTGGTCCCCATCTCCTCCTCCAAGATCTCTCTCTGGGCAGCCCCCTTCCCTGGGATCCCCACCCCCTCCCTCACCTCCCCTCCGCTGACCCCAGGGCGCAGTGGCTGACGGAGCCGAATCCCAGCGCGGAGGAGCTGTTCAGGATGGTGGGCGAGATCTTCATCTACTGGTCCAAGTCCCACGTGAGTGCCCACCCCCTCCCCACAACCAGAGGAGCCGCAGCCCACAGGCGCCTGCCTTCACCTGTCCGGTCTGCAACACTGCTTCCCCCACCAGAACTTCAAGCGCGAGGAGCAGAACTTTGTGGTCCAGAATGAGATCAACAACATGTCCTTCCTGACTGCTGACAACAAAAGCAAAATGGCTAAGGTCGGGGCTTGGTTCTGGGAGGAGCACTTGGCAGAGAGGGCGGGAGCACCCTCTAGGACTTCCTACCTGGCCTGTCCTCACCCAGCCAGCCCGTCCTGGGCGCAATCCCTGCAGTCCTCAGAGCAGCCCCTCTTACCTCCTCTCCCTCTCCCTTCCTCCCCAGCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATCTCCCTCCTCCTCTCCATCTCCCTCTTCTCTCATCTCTGTCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATTTCCCTCCTCTCCATTTTCCTCTTCTCCAAGCCTCTCTCTCCTCCCATTTCCCTCCTCCTCCTCCTCCCCATTTTCCCCCTCTTCCATTTCTTTCTTCCTCTCCCCATTACCCCATTTCCTGCTTTCCTCCCTATCCTTCTCAGCACTGCCCTTCTCAGGTCTCAGAGAACGACCCCCCACCCCGAGCCAAGGCCTGGAAATGCCCAGCTAGAGAATACATGGCGGGTGGGGCAGAGGAGGTGGGGTGCTGGCAACTTGGAGTTGGGCCTGGGCTTCTCTGCGGGGCTGGGGTAACCCTTCTTGTCTCTGTCTGCGGTCCGGTGAAGCAGGCGGGAGATATACAGGTCAGCCCCACATCTGGGACCTTCCGCATGTCTCTTGGCTAATGCCCTCTTCCCCCAGCCTCTGCACGCCCCCGCCTCGAGAAAACCCCTGCTTCTGTTCCCCACCCCCGTCCTCCCCTCCCAGCCCCCACCCATCCTCCTTCCCTTCCCTTCCCTCCCCACCACCCCCATCCGTTCCCATCCCAACCCTCAGCTTTTGGCAATTTGACTTCTTTTCTTTTTCTTCTTTCCTTTTTTTTTTCTGGACTTTTGTTCCCAAAAAAAAAAAAAAAAAGAAAAAAAGAGCAACTCTCAGCTTTTACCAAAGCATCGTGGGCTGAGGTCAAGGGTAATGGGGGTGGGAGAGGCACACGGAGCATGGTTGGGGAGGGGGCAGCACCCTCGCCGTGGATGGTTTAAAGCTTGGGCTCTGGACTGTATGGACTGGGGTTAGAATCCTGTCTTGATAGTTAGCCGTGTGACCTTGGTTGGGGTCATCCTTTTGAGCCTCTGAGGGCATCCAGCCAGCAGCCCCCACCCCAGGGCTCTGCGAGGACTCAGGGAGAAGCTGCATGTGTGGCCTGCAGCAGTGCCTGGCACAGGGGTCATGCTCAAAGTTGCCAGCCGGCGTGGATGTGGCTCTGCCCAAAAGCTTGTCATCAGGGCTTCTCGCTGGCGTGACTGGGGTGGCCCTGGCCCCGGGTCTGCACCCAAGGCTCCAGAACACGGCTGTGGGACTCTGTGCCCTGTGTCTCTGCTTCCAGATCTTTCTGGATGTCTCTTGCATCTTTGGTCTTCCTGTCTCCTTGTCTTTTTCAGTCTCTCAGTGTCTTTTTCTTGCAACTTCTCTTGTCGCTTGAACTCTTTGTGGACCTGCATCTTTGTTTCATTCTTGAGAACTTGGTTTTGGGATGTGAAGTGTGGGGTTGTGCATGCTGTGGAGGGGGTATTGTACTGGGGTTCCTAGGGGATTCTGGAAGAGGACTGCTAGAAGTTGAGACAGGCCCAGAACGGGGGAAAATCTGGATGGGCCTGGGTTAGAAATTGGAGCCAGGCAAGCATGGTGGTATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGCCAAGAGTTCAAGTCCAGCCTGGGCAACATGGCAAGACACCATCTCTAAAAATAAATTTGTTTAAAAAACAAGAAACTGGGAATTTGGGTTGTGGACTTGGGTCTGGAGGGTCTCCGGTCATGGCTGTGGGCCTGAAGTGTAGAGNNNNNNN
|
benign
| 304,052 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 38523923, gene RYR1 (ryanodine receptor 1). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Central_core_myopathy', 'RYR1-related_disorder']
|
TTTTTTGTATTTTTTAGTAGAGATGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTGAAAGAAAAAATTTTAAAAAGTTTTTAGCCTAGAAGTTAGAATATGGATGATTTTTCAGGAGGAGGAAGGGGGAGTGGCTGGGAGGGGCCATGATAGTACTTCCAGGGACCAGAAATGTCCTATTTCTTGACTTCGGTGCTGGCTACACAAGTGTGTTCATTTGTGATAATTCACCAGGTTGATATTTCTTAATATGTAGGTTATATAATACATATGTATGTATCATGTGTGTCTATGTATTGCATGCATGTATTATATTTATGTATTTCGATGAAAAGGTTAGACAAAGTTTTTTAAAAAAGGAATAGTCAGGCCAGGGAAGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTCAGGGAAAGAGGATCTCTTGAGCCCAGGAGTTCAAGACCAGCCTGGACAACCTAGGGAGACCCTCTTCCTACAAAAAATAAAATAAAACATTAGCCAGGCCTGGGCATGGTGACGTGCACCTGTAGTCCCAGCTACTCAGGGAGGCTGAAGTGGGAGGATCACTTAAGCCTGGGAGGTTGAGGTTGCAGTGAGTGGAGATCGCATCACTGTACTCCAGCCTGACAGATTGAGACCCTGTCTCAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAATGGATCGTTAAAAAATTTTAAATGTTCAGCTGGGCACAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGTAAGGTCAAGAGTTCAAGACCAGCGTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGTGTGGTGTCGGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGAGAAAAAAAATTTTTTTAATGTTCATCTGCATGGCCAGATGACCCTAGAAACCCCATCCCTCTGACTGGATGTCTCCTGGTCCCCATCTCCTCCTCCAAGATCTCTCTCTGGGCAGCCCCCTTCCCTGGGATCCCCACCCCCTCCCTCACCTCCCCTCCGCTGACCCCAGGGCGCAGTGGCTGACGGAGCCGAATCCCAGCGCGGAGGAGCTGTTCAGGATGGTGGGCGAGATCTTCATCTACTGGTCCAAGTCCCACGTGAGTGCCCACCCCAACCGCCCTCCCCACAACCAGAGGAGCCGCAGCCCACAGGCGCCTGCCTTCACCTGTCCGGTCTGCAACACTGCTTCCCCCACCAGAACTTCAAGCGCGAGGAGCAGAACTTTGTGGTCCAGAATGAGATCAACAACATGTCCTTCCTGACTGCTGACAACAAAAGCAAAATGGCTAAGGTCGGGGCTTGGTTCTGGGAGGAGCACTTGGCAGAGAGGGCGGGAGCACCCTCTAGGACTTCCTACCTGGCCTGTCCTCACCCAGCCAGCCCGTCCTGGGCGCAATCCCTGCAGTCCTCAGAGCAGCCCCTCTTACCTCCTCTCCCTCTCCCTTCCTCCCCAGCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATCTCCCTCCTCCTCTCCATCTCCCTCTTCTCTCATCTCTGTCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATTTCCCTCCTCTCCATTTTCCTCTTCTCCAAGCCTCTCTCTCCTCCCATTTCCCTCCTCCTCCTCCTCCCCATTTTCCCCCTCTTCCATTTCTTTCTTCCTCTCCCCATTACCCCATTTCCTGCTTTCCTCCCTATCCTTCTCAGCACTGCCCTTCTCAGGTCTCAGAGAACGACCCCCCACCCCGAGCCAAGGCCTGGAAATGCCCAGCTAGAGAATACATGGCGGGTGGGGCAGAGGAGGTGGGGTGCTGGCAACTTGGAGTTGGGCCTGGGCTTCTCTGCGGGGCTGGGGTAACCCTTCTTGTCTCTGTCTGCGGTCCGGTGAAGCAGGCGGGAGATATACAGGTCAGCCCCACATCTGGGACCTTCCGCATGTCTCTTGGCTAATGCCCTCTTCCCCCAGCCTCTGCACGCCCCCGCCTCGAGAAAACCCCTGCTTCTGTTCCCCACCCCCGTCCTCCCCTCCCAGCCCCCACCCATCCTCCTTCCCTTCCCTTCCCTCCCCACCACCCCCATCCGTTCCCATCCCAACCCTCAGCTTTTGGCAATTTGACTTCTTTTCTTTTTCTTCTTTCCTTTTTTTTTTCTGGACTTTTGTTCCCAAAAAAAAAAAAAAAAAGAAAAAAAGAGCAACTCTCAGCTTTTACCAAAGCATCGTGGGCTGAGGTCAAGGGTAATGGGGGTGGGAGAGGCACACGGAGCATGGTTGGGGAGGGGGCAGCACCCTCGCCGTGGATGGTTTAAAGCTTGGGCTCTGGACTGTATGGACTGGGGTTAGAATCCTGTCTTGATAGTTAGCCGTGTGACCTTGGTTGGGGTCATCCTTTTGAGCCTCTGAGGGCATCCAGCCAGCAGCCCCCACCCCAGGGCTCTGCGAGGACTCAGGGAGAAGCTGCATGTGTGGCCTGCAGCAGTGCCTGGCACAGGGGTCATGCTCAAAGTTGCCAGCCGGCGTGGATGTGGCTCTGCCCAAAAGCTTGTCATCAGGGCTTCTCGCTGGCGTGACTGGGGTGGCCCTGGCCCCGGGTCTGCACCCAAGGCTCCAGAACACGGCTGTGGGACTCTGTGCCCTGTGTCTCTGCTTCCAGATCTTTCTGGATGTCTCTTGCATCTTTGGTCTTCCTGTCTCCTTGTCTTTTTCAGTCTCTCAGTGTCTTTTTCTTGCAACTTCTCTTGTCGCTTGAACTCTTTGTGGACCTGCATCTTTGTTTCATTCTTGAGAACTTGGTTTTGGGATGTGAAGTGTGGGGTTGTGCATGCTGTGGAGGGGGTATTGTACTGGGGTTCCTAGGGGATTCTGGAAGAGGACTGCTAGAAGTTGAGACAGGCCCAGAACGGGGGAAAATCTGGATGGGCCTGGGTTAGAAATTGGAGCCAGGCAAGCATGGTGGTATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGCCAAGAGTTCAAGTCCAGCCTGGGCAACATGGCAAGACACCATCTCTAAAAATAAATTTGTTTAAAAAACAAGAAACTGGGAATTTGGGTTGTGGACTTGGGTCTGGAGGGTCTCCGGTCATGGCTGTGGGCCTGAAGTGTAGAGTCAGCAAGTCTGGGGTGGAAATTGAGGTGTCGTCGGCAGTTGGGGAGGGAGTGCCTGGTGTCCAGACTGGGGCCTGGGGTGTGGATGATGGCCGCGGGTTGGGGCTGAGGCATGGGATTGGGGCTTGGGCTGGTGCTGAGCCCTGTGTCCCCACAGTCCGGTGGCTCGGACCAGGAACGCACCAAGAAGAAGCGCCGGGGGGACCGGTACTCTGTGCAGACGTCACTGATCGTGGCCACACTGAAGAAGATGCTGCCCATCGGCCTGAATATGTGTGCGCCCACCGACCAAGACCTCATCACGCTGGCCAAGACCCGTTACGCCCTGGTGCCTGCCCAGCCCCGTCCTCGGAACCTTCCAGGATGCCGCCCAGCACCCACTGAACCCCTGGGACCTTAGGGAACAACCACAATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTG
|
TTTTTTGTATTTTTTAGTAGAGATGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCTGAAAGAAAAAATTTTAAAAAGTTTTTAGCCTAGAAGTTAGAATATGGATGATTTTTCAGGAGGAGGAAGGGGGAGTGGCTGGGAGGGGCCATGATAGTACTTCCAGGGACCAGAAATGTCCTATTTCTTGACTTCGGTGCTGGCTACACAAGTGTGTTCATTTGTGATAATTCACCAGGTTGATATTTCTTAATATGTAGGTTATATAATACATATGTATGTATCATGTGTGTCTATGTATTGCATGCATGTATTATATTTATGTATTTCGATGAAAAGGTTAGACAAAGTTTTTTAAAAAAGGAATAGTCAGGCCAGGGAAGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGTCAGGGAAAGAGGATCTCTTGAGCCCAGGAGTTCAAGACCAGCCTGGACAACCTAGGGAGACCCTCTTCCTACAAAAAATAAAATAAAACATTAGCCAGGCCTGGGCATGGTGACGTGCACCTGTAGTCCCAGCTACTCAGGGAGGCTGAAGTGGGAGGATCACTTAAGCCTGGGAGGTTGAGGTTGCAGTGAGTGGAGATCGCATCACTGTACTCCAGCCTGACAGATTGAGACCCTGTCTCAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAATGGATCGTTAAAAAATTTTAAATGTTCAGCTGGGCACAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGTAAGGTCAAGAGTTCAAGACCAGCGTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGTGTGGTGTCGGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGAGAAAAAAAATTTTTTTAATGTTCATCTGCATGGCCAGATGACCCTAGAAACCCCATCCCTCTGACTGGATGTCTCCTGGTCCCCATCTCCTCCTCCAAGATCTCTCTCTGGGCAGCCCCCTTCCCTGGGATCCCCACCCCCTCCCTCACCTCCCCTCCGCTGACCCCAGGGCGCAGTGGCTGACGGAGCCGAATCCCAGCGCGGAGGAGCTGTTCAGGATGGTGGGCGAGATCTTCATCTACTGGTCCAAGTCCCACGTGAGTGCCCACCCCAACCGCCCTCCCCACAACCAGAGGAGCCGCAGCCCACAGGCGCCTGCCTTCACCTGTCCGGTCTGCAACACTGCTTCCCCCACCAGAACTTCAAGCGCGAGGAGCAGAACTTTGTGGTCCAGAATGAGATCAACAACATGTCCTTCCTGACTGCTGACAACAAAAGCAAAATGGCTAAGGTCGGGGCTTGGTTCTGGGAGGAGCACTTGGCAGAGAGGGCGGGAGCACCCTCTAGGACTTCCTACCTGGCCTGTCCTCACCCAGCCAGCCCGTCCTGGGCGCAATCCCTGCAGTCCTCAGAGCAGCCCCTCTTACCTCCTCTCCCTCTCCCTTCCTCCCCAGCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATCTCCCTCCTCCTCTCCATCTCCCTCTTCTCTCATCTCTGTCTCCTTCCTCCTCCTGTATCTTCTCCCTCCTCCCATTTCCCTCCTCTCCATTTTCCTCTTCTCCAAGCCTCTCTCTCCTCCCATTTCCCTCCTCCTCCTCCTCCCCATTTTCCCCCTCTTCCATTTCTTTCTTCCTCTCCCCATTACCCCATTTCCTGCTTTCCTCCCTATCCTTCTCAGCACTGCCCTTCTCAGGTCTCAGAGAACGACCCCCCACCCCGAGCCAAGGCCTGGAAATGCCCAGCTAGAGAATACATGGCGGGTGGGGCAGAGGAGGTGGGGTGCTGGCAACTTGGAGTTGGGCCTGGGCTTCTCTGCGGGGCTGGGGTAACCCTTCTTGTCTCTGTCTGCGGTCCGGTGAAGCAGGCGGGAGATAATACAGGTCAGCCCCACATCTGGGACCTTCCGCATGTCTCTTGGCTAATGCCCTCTTCCCCCAGCCTCTGCACGCCCCCGCCTCGAGAAAACCCCTGCTTCTGTTCCCCACCCCCGTCCTCCCCTCCCAGCCCCCACCCATCCTCCTTCCCTTCCCTTCCCTCCCCACCACCCCCATCCGTTCCCATCCCAACCCTCAGCTTTTGGCAATTTGACTTCTTTTCTTTTTCTTCTTTCCTTTTTTTTTTCTGGACTTTTGTTCCCAAAAAAAAAAAAAAAAAGAAAAAAAGAGCAACTCTCAGCTTTTACCAAAGCATCGTGGGCTGAGGTCAAGGGTAATGGGGGTGGGAGAGGCACACGGAGCATGGTTGGGGAGGGGGCAGCACCCTCGCCGTGGATGGTTTAAAGCTTGGGCTCTGGACTGTATGGACTGGGGTTAGAATCCTGTCTTGATAGTTAGCCGTGTGACCTTGGTTGGGGTCATCCTTTTGAGCCTCTGAGGGCATCCAGCCAGCAGCCCCCACCCCAGGGCTCTGCGAGGACTCAGGGAGAAGCTGCATGTGTGGCCTGCAGCAGTGCCTGGCACAGGGGTCATGCTCAAAGTTGCCAGCCGGCGTGGATGTGGCTCTGCCCAAAAGCTTGTCATCAGGGCTTCTCGCTGGCGTGACTGGGGTGGCCCTGGCCCCGGGTCTGCACCCAAGGCTCCAGAACACGGCTGTGGGACTCTGTGCCCTGTGTCTCTGCTTCCAGATCTTTCTGGATGTCTCTTGCATCTTTGGTCTTCCTGTCTCCTTGTCTTTTTCAGTCTCTCAGTGTCTTTTTCTTGCAACTTCTCTTGTCGCTTGAACTCTTTGTGGACCTGCATCTTTGTTTCATTCTTGAGAACTTGGTTTTGGGATGTGAAGTGTGGGGTTGTGCATGCTGTGGAGGGGGTATTGTACTGGGGTTCCTAGGGGATTCTGGAAGAGGACTGCTAGAAGTTGAGACAGGCCCAGAACGGGGGAAAATCTGGATGGGCCTGGGTTAGAAATTGGAGCCAGGCAAGCATGGTGGTATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGCCAAGAGTTCAAGTCCAGCCTGGGCAACATGGCAAGACACCATCTCTAAAAATAAATTTGTTTAAAAAACAAGAAACTGGGAATTTGGGTTGTGGACTTGGGTCTGGAGGGTCTCCGGTCATGGCTGTGGGCCTGAAGTGTAGAGTCAGCAAGTCTGGGGTGGAAATTGAGGTGTCGTCGGCAGTTGGGGAGGGAGTGCCTGGTGTCCAGACTGGGGCCTGGGGTGTGGATGATGGCCGCGGGTTGGGGCTGAGGCATGGGATTGGGGCTTGGGCTGGTGCTGAGCCCTGTGTCCCCACAGTCCGGTGGCTCGGACCAGGAACGCACCAAGAAGAAGCGCCGGGGGGACCGGTACTCTGTGCAGACGTCACTGATCGTGGCCACACTGAAGAAGATGCTGCCCATCGGCCTGAATATGTGTGCGCCCACCGACCAAGACCTCATCACGCTGGCCAAGACCCGTTACGCCCTGGTGCCTGCCCAGCCCCGTCCTCGGAACCTTCCAGGATGCCGCCCAGCACCCACTGAACCCCTGGGACCTTAGGGAACAACCACAATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCT
|
pathogenic
| 304,064 |
A mutation at chromosome position 38527629 on chromosome 19 in gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
ACCACAATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTA
|
ACCACAATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTANNN
|
benign
| 304,084 |
Is the chromosome 19, position 38527634 variant in RYR1 (ryanodine receptor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
AATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTATGACA
|
AATGCCACTGAGCCCCCCAGGTCCCTGGGAGCCTTCCCTTCAGACCCCACTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTATGACANNN
|
benign
| 304,086 |
The chromosome 19, position 38527683 genetic variant in gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['RYR1-related_disorder']
|
CTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTATGACAAATTTCCAACAGACAGAAGTAGTGGGGAGGTTTTCTGTAATTCCCTCAA
|
CTGAGTTCTTTTCCGGGATGCTGAGGACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTATGACAAATTTCCAACAGACAGAAGTAGTGGGGAGGTTTTCTGTAATTCCCTCAANN
|
pathogenic
| 304,092 |
The mutation in gene RYR1 (ryanodine receptor 1) at chromosome 19, position 38527708—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['RYR1-related_disorder']
|
GACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTATGACAAATTTCCAACAGACAGAAGTAGTGGGGAGGTTTTCTGTAATTCCCTCAAAAGCTTCATGTAGGCTAATGACAGG
|
GACTCACTGTGCCCCTGGGATGCCCTGAGGACCCCGTTCAAGATATTGCCAGGGCACCACAGACCTAAGAGCCCTCACTGAAACCTAGAAAAGCTCTAGGACCCCTGGGACCCGCATGAGGACTGCAGGACCCCACTGCCCCCCCACCGGACCATGCCAAACCTGCTGAGACCCTGAGAGTCCCCCCAACAAGATGAGCCCCTGAGATCCTCTGAACCCTCCACCAAGGCCCCTTCAAGCCCCTTGGGACCTACTGAGACCCTCATGACCCCTCCTTCCCTCCCTGCCAAGACTGAACCTCTGGGTTCCTGCTGAGCCCTTGGCTCACCATCCCTTTCCTTCAGGACCCTGCTGACACCTGGGCCCTGTTGAAGCCCAACTAAGCCCCCAAGACTCTCAGGGGCTCAGGGAGCCCTGCGACCCTGCATAACTCCCCAGGATCCATGAACCCCAAGCCCGGGACTGTACCCAAACCTCTGAGGTCTCAACTGTCCTGGAGACCAAAATACCCGGGCTGTAGAACCTCTTAAGCTTGCTGGGATATCAAGGAGGCCTCCCGGGACCCCACTTACCCCTTGTGTGGGACAACAAGGACAATCTCCCTCCTCTCCGATCCTTTCCAGCTTCAGGGACTCTAAGGAACCCTCCCAGGATTCTGCCCCAAGACCCCTATAGCCCTCCCCCCAGGACCACACCAACACCCTGACAACCTACTAACCCCCTGGACCCCTAAAGACCACCGACTTCTCCCCTGCTACCACCAGGACACCCCTTCCCTCAGAACCTCAGGCACCTCCCAGGACTGCTGAGTCCTGCCAGGACGCCAGAGAGCCCTCCAGGGCTCCATGGACCCCTCACCTTGGTCCTTGAGGGCTCCCCGTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTATGACAAATTTCCAACAGACAGAAGTAGTGGGGAGGTTTTCTGTAATTCCCTCAAAAGCTTCATGTAGGCTAATGACAGGNNNNN
|
pathogenic
| 304,095 |
Evaluate this variant at chromosome 19, position 38528587, gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
GTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCTCTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTATGACAAATTTCCAACAGACAGAAGTAGTGGGGAGGTTTTCTGTAATTCCCTCAAAAGCTTCATGTAGGCTAATGACAGGCTTAGTAATAAATAATTGTGATGCAGATGGCGCAGCTGCTGCCGCTGCTGCTGACAGTAGCAGGCAGCCATTCATCAAATGCTTATTATGTGTCAGGCACCAAGCTAAGCGGGGATATCTATATCCTCTCACTTAACCGCCACACTGTGAGACGGATTATTGCATCTCCTTTGTGTGGATAAGGGAATGAAGGCACAGGGATTTATTTTTCATTTTGTTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAAGTGGGATTACAGGCGCCCACCACTACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTGGCCATGCTTGTCTCAAACTCCTGACCTCAAGTGATCTTCCCGCCTTGGCCTCTCAAAGTGCTGGGACTACAGGCGTGAGCCACTGCACCTGGCCTACTTTTTTATTTTTTGAGAAGATCTTGCTCTTCTTGCCCAGGCTGGAATGCAGTGTCATATCATAGCTCATTGCAGCTCAGACCCCCCACTCCACATCACCCCAGGCTCAAGAGATCCTCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGCACGTGCCTCCATGCCTGGCTATTTTTTTTTTTTTTTTCTGGTAGAGATGGGGGTCTCACTATGTTGCCCAGGCCGGTCTCAAACTCCTGAACTCAAGCAATCCTCCCCACTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCGCCTGTCAGGGATTTGTTTTTCTTACATAACGTGAAGTCAAGAGCTAAAGACTTCAGGACTGGGCAGTGGCAC
|
GTCCTAGAACCCCAGTGAACCCCCACCCTGCTGATGCCCCCTTTGGCCCCTGTGTAACCAGTGACTCCGTTGACCTACGTGATCCCCCATGACCTCTGCTGACCCCTTCTGATCTTCAAAGACTCCCTGCCCCACTCTGACCCCCCAGTCATCCCTCTTTGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCTTTGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTACTGTATCTTCAAGGTGACTCTGTGACCCTCCGGCCCCTCTAGGACCCCTTCTGACCCCGTCAACCTCTGCATCCTTTTGTTTCTCTCAGACCCCCACCCCCACCCCAGAAAAACCTCTTCAGTTCCTGGGGTGCTGGGCCTGGAAGGAAAGGGTTGTGGGTCAGGAAGGAGGATGGGACCTCCAGAGTGACCCAGCCTGGCTCTGTCTCCCCAGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAGGGAAAGGTATGCCTCCTTCCTCTGCAAGCAAAAGAAGCAAGTCAGAAAGTAACCACAATATTAGTGAAGGTTTGAGCATTTACCAAAGACCAGGCATTGAAGAAAGACCTCAAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATGTGGCGAAACCATGTTTCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTGCCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGTCCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAGCCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTGGAGCCTCGAGTTTAAGGCGAGGCTTAGAATGGATCGGGGGAGGGGTCTGCTGCTTAATCTTGCATCTGGGGGCGGGACAGGGAAGGGGCAGATCTTTAGGTCTAGGGGTGGGGCCTAGAGGAGATGCGTTGAGTTTGTGGGCAGGGCCTTGGGTGGGTCGTAGAATTGGTCGTGGCCTGGCTCGTGGTCCTGGCTCTGTGGGACCTGGCCTAGGATGGAAACTTAGGTCTGGAGGCGGAGTCAGGACCCTGACTCTGTTGGTGGAGACAAGGTTTTCCTTCTGCCGTGTGAGTCTTAACCTGAATATGGACTTCGACACAGCTGGGCAGTTTCATCCAGGGCTGGGAGTGAGAGGGGCAGGGTCTGGGGATGTGACTGTCCTGCTATCCCCTCCCCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGGCACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCCCTGTACAACCTGCCCACGTAAGGCCCCCAGGGACAAGGGAAGCGTGAAGGGCTGCGGAGAAAGGGTGGCTGGAGAGTCTGGAGAATGGAGGGCCAACGTGATGGGGCCTTGAGGGTGGTTGGGGGCTGCAGGCGCATGGGAGGTCGGGAAGCACGGAGGAGGGCGCGTCCCAGTGACGTCACACCATTCCCCTGCAGGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCATGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAGTGAGCTGGGACCCGCCTGGGGGAGTGGGGGGCGAGCTGGATAGGGCTGGGGCGGAGGCCACCCTTGGCACACCTCCAGGGGTCGGCCCTCCACATCAAGGGGTATAGAAATGCCAGCTCCTGGCTTGAGTAGAACCAAAGTAGGGCGCAGGATGTGGGAAAAGAGAAAAAAAAATCCAGACCAACAGGGACATGGGGGCAGTGACAGGAGGGGACTCTAGAAACCCTCTCCCCAAGTCTCCCCTCTCCCACCAGAAAGCTGGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAGTTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGGTGAAGACTCTTGCCAGGGCCCCAGAAATGCCCCCAAGGTCCTGGGGCCACCCCCAGCCCAGCAGCTTCCCTGTGCCTCAGGAGAGGCCCTCCAGGTCCTGGGGGAGCCCAAGACAGACGGATCTTTAAATATCACTTTGCTGGTCAGGCACGGTGGCTCACGCCTGTAGTCCCAGCAATCTGGGAGGCTGAGGCAGGCAATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGCAAAACCCCGTTTCTACAAAAATACAATAAATAGCCAGGCTTGGTGGTGGGCACTTGTAATCCCATCTACTCAGGAGGCTGAGGCGGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAGAAAAGAAAAGGAACGTAAATGTCACTTTGCTAGGACAGGCACAGCCAACATACACCGTTGCATGGCTGAACACTTCACAAGGGCATGTCTGAGGGGTTCGTATCACAGACAATGTAGATTAACTAGGCTTTTCTAGAAGAAAGTGTCTTGCTCAAATAAAATCAGTATATTATGAAAAAAATCCATATGTATGACAAATTTCCAACAGACAGAAGTAGTGGGGAGGTTTTCTGTAATTCCCTCAAAAGCTTCATGTAGGCTAATGACAGGCTTAGTAATAAATAATTGTGATGCAGATGGCGCAGCTGCTGCCGCTGCTGCTGACAGTAGCAGGCAGCCATTCATCAAATGCTTATTATGTGTCAGGCACCAAGCTAAGCGGGGATATCTATATCCTCTCACTTAACCGCCACACTGTGAGACGGATTATTGCATCTCCTTTGTGTGGATAAGGGAATGAAGGCACAGGGATTTATTTTTCATTTTGTTTATTTATTTATTTATTTATTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAAGTGGGATTACAGGCGCCCACCACTACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTGGCCATGCTTGTCTCAAACTCCTGACCTCAAGTGATCTTCCCGCCTTGGCCTCTCAAAGTGCTGGGACTACAGGCGTGAGCCACTGCACCTGGCCTACTTTTTTATTTTTTGAGAAGATCTTGCTCTTCTTGCCCAGGCTGGAATGCAGTGTCATATCATAGCTCATTGCAGCTCAGACCCCCCACTCCACATCACCCCAGGCTCAAGAGATCCTCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGCACGTGCCTCCATGCCTGGCTATTTTTTTTTTTTTTTTCTGGTAGAGATGGGGGTCTCACTATGTTGCCCAGGCCGGTCTCAAACTCCTGAACTCAAGCAATCCTCCCCACTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCGCCTGTCAGGGATTTGTTTTTCTTACATAACGTGAAGTCAAGAGCTAAAGACTTCAGGACTGGGCAGTGGCAC
|
benign
| 304,111 |
Is the chromosome 19, position 38532658 variant in RYR1 (ryanodine receptor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
AGACTTCAGGACTGGGCAGTGGCACAGGGACACTGACAGGGGCCCAGGGTCTTTCTAGCTTTCTGCTCTGCCCTTCTTAGCTTTTGTCTGTAGTCCTGGGTGGATGCTGCACTTCTAGGCATCACAGCCACATGCCAGGCAGAAAGAAGGACAAAGGGTCCCCACTCTTCACCCTCAGCAAGATCTTTGGTCTCTCTCTCTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCGCTGCAATCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTATTTTTCTTTTTTCTTTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCTTCTTTGGTCTCTTTATCTCTCTGGTGAGCTTCCACACAGATCTCATTGGCCAGAAATTCTGACATAAGGCCATCTCGGGCTGCAAGGTGATGAAGAATTTGAGCATCCCATTTTGCATCCTGTGGGAGAGCGATGGCTCTGGAGTTTGGCCATCCAAGTTGAGTCCCAGCGCAAGCTGTGTGATCCCAGCCGAGAAGGGTCTTTGTATCTTAGTTCCCCCACCGATAAAATAGGGCTATTAACATACCCACCCAATTGGATGACTGTGAGGGTCAGTTTGTTAATATATACAAGGCACCTAGAACAGGCACTGACATGGTGTTAGTGTAAACACTCAGCAGGTGTTGGCCATTGTAGAGGAGACCCAAGCAGAAAGGGATTGGCCATACTTGTTATTGAGCTGACAGGTGGCAAGATGGCTCTGGGAGCTCCAGCCTTCCATCACTCCATTTTAGCATCCCCAGTGGAAAGGGAGTGCCTCCACCATTAGCTCCAGCAAACCTCACTGAATGGGCCAGGCGCGGTGGCTCACACCTGTAATTCCAGTACTTTGGGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAAATGGAAAAATTAGCCAGGTGTGTTGGTATGTGCCTGTAGTCCCAACTACTCAGGAGGCTGATGTGGGAGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTAAGCCTTGATGGCACCACTGCACTCCAGCTTGGCCAACAGAGCAAGACCCTGTCTCAAGAACAAAATAAACAAACAAAACAACTCCCAGAATGGATTTTACTGGACAGCATGGACAACATGACCATTTCTTACCTGTCATCATGGCCACACAGATAAAAGTCCTCATCGGCCATGCATTTGTCACAAGCCACCCTGGCAATGGCCACTCCAGCCACCTGAGTCACACAGCCTGAACATGGGGAGGGTTGGCCCTCCAAAGAAAACCAGAAGCTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACGGTGGCGCAATGTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAAGCACCATCACACCCGGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGTTGGTTTCAGACTCCTGATCTCAAGTGATCTGCCTGCCTCAGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACCGCACCCTGCCCAGAAGCTCTTATAAGATGGGGGTCCTCTCCACCGGGTCCTGACCACTCCCCTGCTTACTTCCCCAGCAAACTGGATGAGGATTACCTGTACATGGCCTATGCTGATATCATGGCAAAGGTGAGGCCCTACCCCCCTCTTCTGGGGCAGATTTCCCTCTCCCCACCTGCAGTGCTTGTCCACAAAAAGGGCTGGGGCGGGATGGAGGGGTCTGCTTTGTTCATCCCTTAACTGATGCCCCCTCCCCAGAGCTGCCACCTGGAGGAGGGAGGGGAGAACGGTGAAGCTGAAGAGGAGGTTGAGGTCTCCTTTGAGGTAGGTGGGCTCAGGAGGTCCTGGAGGGAAGGGATGGGGGACCCTGACTGCAGTCATCTCCCATTCATTCAGCATGTGTTCACAGAGCAAAGCTCTGGGGACACAGCAGTGACCAAGTCAGTCCACTGGGGAGACAGATACACCCGCCAAACTAACACCACGGAGTGTACACCATGGTCATGGGGGAAGCTCAGGCAGAGGGGTCAGGGCTGGAATTGGGGAGGCTCAGGCAGAGGGGTCAGGGCTGGGATTGAGGAGGCTCAGGCAGAGGGGTCAGGGTTGGGATGATGGGGATACAGGCAGAGGGGTCAGGGCCAAGATGGGGGAACCTCAGGGGGATAAAGCAGCCCAAACAAGGTGCCTGACCCAGCCTGCAGGAAAATGTATCAGGGAGGGCTTCTCGGAGGAGGGGACTTCTGAGCAGAAGGATAAAAGGAGCCTGCCAGTTGAAGAAAAAGAGAAAAATGTTCTACGTAGGGAGAATAGTATATGCCAAGGCCAGGCAGCAAGAAAGAGCTAGTAAACATGCAATTCACCGATCCATTCATTCATTGAGACAGTTAGCAAGCATTTACTTCATAGTTTTCTTCACTGTTTCTGTGCCAGAGTCCCTTCTGGCATCTGGTGAAGACTTTCTCAGGATCATGTTTTTAAATGTATAAAATGAATTCATAGCAGAGGAAACAAGTATTGAATAGCTATCAAAATATTTTAAAAATGAATTTGTGATCCAGTAATACTTGTACATTGTTAATCTATCAAATAAGATCTAAGGCTGGGCGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGCGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGATCTAGCAGTAGATCCAACAGCTACTATAATTGAGAAGTAGTGATGAACATAACTGATATTTAAAGACATCTTTGAGCCATTGTGAGTGAGTCTCTCTTCCTGGACCAAAAGAGCAGAATTTGAATAGGAAATGGTTCTAATTCTGCAACAATAATGTGATATGGAATATACAGCAATAATAATGTGATATGGAACCATCTGTAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCTCATGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATAGTCTTGACCTCTTGACCTCGTGATCTCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCTTGCCCAGCCACATCTGTGATTTTTATTGGTGACAAAGCCACAGGTTCTGCTAATATCGCTGTGATTTATGGCTTCATCCATATAGGAAGGAAATGCTTCATTTCTGTTAGAGGGCGGAAAACATAAAAATGTAACTTTTCATCATCCAAGTTCACAGATGGCCTGGAGGCCCATGGGCCCAGGTTAAGACTGCTGCATGCCCAGCTCTGATTTATGTAGATCTTGCCTAATGCCTAGCCCCGTGCTAGGTACAGGAGATACATCGAGGGTGTGAGCCCCAGGGGATGGAGGGAGCTCATGGTTGAAGGAGTGAGTTGTGGATGTGGCTGGAACAGGGAGGGCAGAAGTGAGAATGTGAGGGGGAAAGGCTGGGCTGGAAAGCCTGGACTTGCCTTCATGTGTCT
|
AGACTTCAGGACTGGGCAGTGGCACAGGGACACTGACAGGGGCCCAGGGTCTTTCTAGCTTTCTGCTCTGCCCTTCTTAGCTTTTGTCTGTAGTCCTGGGTGGATGCTGCACTTCTAGGCATCACAGCCACATGCCAGGCAGAAAGAAGGACAAAGGGTCCCCACTCTTCACCCTCAGCAAGATCTTTGGTCTCTCTCTCTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCGCTGCAATCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTATTTTTCTTTTTTCTTTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCTTCTTTGGTCTCTTTATCTCTCTGGTGAGCTTCCACACAGATCTCATTGGCCAGAAATTCTGACATAAGGCCATCTCGGGCTGCAAGGTGATGAAGAATTTGAGCATCCCATTTTGCATCCTGTGGGAGAGCGATGGCTCTGGAGTTTGGCCATCCAAGTTGAGTCCCAGCGCAAGCTGTGTGATCCCAGCCGAGAAGGGTCTTTGTATCTTAGTTCCCCCACCGATAAAATAGGGCTATTAACATACCCACCCAATTGGATGACTGTGAGGGTCAGTTTGTTAATATATACAAGGCACCTAGAACAGGCACTGACATGGTGTTAGTGTAAACACTCAGCAGGTGTTGGCCATTGTAGAGGAGACCCAAGCAGAAAGGGATTGGCCATACTTGTTATTGAGCTGACAGGTGGCAAGATGGCTCTGGGAGCTCCAGCCTTCCATCACTCCATTTTAGCATCCCCAGTGGAAAGGGAGTGCCTCCACCATTAGCTCCAGCAAACCTCACTGAATGGGCCAGGCGCGGTGGCTCACACCTGTAATTCCAGTACTTTGGGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAAATGGAAAAATTAGCCAGGTGTGTTGGTATGTGCCTGTAGTCCCAACTACTCAGGAGGCTGATGTGGGAGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTAAGCCTTGATGGCACCACTGCACTCCAGCTTGGCCAACAGAGCAAGACCCTGTCTCAAGAACAAAATAAACAAACAAAACAACTCCCAGAATGGATTTTACTGGACAGCATGGACAACATGACCATTTCTTACCTGTCATCATGGCCACACAGATAAAAGTCCTCATCGGCCATGCATTTGTCACAAGCCACCCTGGCAATGGCCACTCCAGCCACCTGAGTCACACAGCCTGAACATGGGGAGGGTTGGCCCTCCAAAGAAAACCAGAAGCTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACGGTGGCGCAATGTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAAGCACCATCACACCCGGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGTTGGTTTCAGACTCCTGATCTCAAGTGATCTGCCTGCCTCAGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACCGCACCCTGCCCAGAAGCTCTTATAAGATGGGGGTCCTCTCCACCGGGTCCTGACCACTCCCCTGCTTACTTCCCCAGCAAACTGGATGAGGATTACCTGTACATGGCCTATGCTGATATCATGGCAAAGGTGAGGCCCTACCCCCCTCTTCTGGGGCAGATTTCCCTCTCCCCACCTGCAGTGCTTGTCCACAAAAAGGGCTGGGGCGGGATGGAGGGGTCTGCTTTGTTCATCCCTTAACTGATGCCCCCCTCCCCAGAGCTGCCACCTGGAGGAGGGAGGGGAGAACGGTGAAGCTGAAGAGGAGGTTGAGGTCTCCTTTGAGGTAGGTGGGCTCAGGAGGTCCTGGAGGGAAGGGATGGGGGACCCTGACTGCAGTCATCTCCCATTCATTCAGCATGTGTTCACAGAGCAAAGCTCTGGGGACACAGCAGTGACCAAGTCAGTCCACTGGGGAGACAGATACACCCGCCAAACTAACACCACGGAGTGTACACCATGGTCATGGGGGAAGCTCAGGCAGAGGGGTCAGGGCTGGAATTGGGGAGGCTCAGGCAGAGGGGTCAGGGCTGGGATTGAGGAGGCTCAGGCAGAGGGGTCAGGGTTGGGATGATGGGGATACAGGCAGAGGGGTCAGGGCCAAGATGGGGGAACCTCAGGGGGATAAAGCAGCCCAAACAAGGTGCCTGACCCAGCCTGCAGGAAAATGTATCAGGGAGGGCTTCTCGGAGGAGGGGACTTCTGAGCAGAAGGATAAAAGGAGCCTGCCAGTTGAAGAAAAAGAGAAAAATGTTCTACGTAGGGAGAATAGTATATGCCAAGGCCAGGCAGCAAGAAAGAGCTAGTAAACATGCAATTCACCGATCCATTCATTCATTGAGACAGTTAGCAAGCATTTACTTCATAGTTTTCTTCACTGTTTCTGTGCCAGAGTCCCTTCTGGCATCTGGTGAAGACTTTCTCAGGATCATGTTTTTAAATGTATAAAATGAATTCATAGCAGAGGAAACAAGTATTGAATAGCTATCAAAATATTTTAAAAATGAATTTGTGATCCAGTAATACTTGTACATTGTTAATCTATCAAATAAGATCTAAGGCTGGGCGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGCGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGATCTAGCAGTAGATCCAACAGCTACTATAATTGAGAAGTAGTGATGAACATAACTGATATTTAAAGACATCTTTGAGCCATTGTGAGTGAGTCTCTCTTCCTGGACCAAAAGAGCAGAATTTGAATAGGAAATGGTTCTAATTCTGCAACAATAATGTGATATGGAATATACAGCAATAATAATGTGATATGGAACCATCTGTAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCTCATGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATAGTCTTGACCTCTTGACCTCGTGATCTCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCTTGCCCAGCCACATCTGTGATTTTTATTGGTGACAAAGCCACAGGTTCTGCTAATATCGCTGTGATTTATGGCTTCATCCATATAGGAAGGAAATGCTTCATTTCTGTTAGAGGGCGGAAAACATAAAAATGTAACTTTTCATCATCCAAGTTCACAGATGGCCTGGAGGCCCATGGGCCCAGGTTAAGACTGCTGCATGCCCAGCTCTGATTTATGTAGATCTTGCCTAATGCCTAGCCCCGTGCTAGGTACAGGAGATACATCGAGGGTGTGAGCCCCAGGGGATGGAGGGAGCTCATGGTTGAAGGAGTGAGTTGTGGATGTGGCTGGAACAGGGAGGGCAGAAGTGAGAATGTGAGGGGGAAAGGCTGGGCTGGAAAGCCTGGACTTGCCTTCATGTGTC
|
benign
| 304,128 |
Benign or pathogenic: chromosome 19, position 38534774, gene RYR1 (ryanodine receptor 1) variant? Disease(s) if pathogenic?
|
pathogenic
|
TCTCCTTTGAGGTAGGTGGGCTCAGGAGGTCCTGGAGGGAAGGGATGGGGGACCCTGACTGCAGTCATCTCCCATTCATTCAGCATGTGTTCACAGAGCAAAGCTCTGGGGACACAGCAGTGACCAAGTCAGTCCACTGGGGAGACAGATACACCCGCCAAACTAACACCACGGAGTGTACACCATGGTCATGGGGGAAGCTCAGGCAGAGGGGTCAGGGCTGGAATTGGGGAGGCTCAGGCAGAGGGGTCAGGGCTGGGATTGAGGAGGCTCAGGCAGAGGGGTCAGGGTTGGGATGATGGGGATACAGGCAGAGGGGTCAGGGCCAAGATGGGGGAACCTCAGGGGGATAAAGCAGCCCAAACAAGGTGCCTGACCCAGCCTGCAGGAAAATGTATCAGGGAGGGCTTCTCGGAGGAGGGGACTTCTGAGCAGAAGGATAAAAGGAGCCTGCCAGTTGAAGAAAAAGAGAAAAATGTTCTACGTAGGGAGAATAGTATATGCCAAGGCCAGGCAGCAAGAAAGAGCTAGTAAACATGCAATTCACCGATCCATTCATTCATTGAGACAGTTAGCAAGCATTTACTTCATAGTTTTCTTCACTGTTTCTGTGCCAGAGTCCCTTCTGGCATCTGGTGAAGACTTTCTCAGGATCATGTTTTTAAATGTATAAAATGAATTCATAGCAGAGGAAACAAGTATTGAATAGCTATCAAAATATTTTAAAAATGAATTTGTGATCCAGTAATACTTGTACATTGTTAATCTATCAAATAAGATCTAAGGCTGGGCGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGCGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGATCTAGCAGTAGATCCAACAGCTACTATAATTGAGAAGTAGTGATGAACATAACTGATATTTAAAGACATCTTTGAGCCATTGTGAGTGAGTCTCTCTTCCTGGACCAAAAGAGCAGAATTTGAATAGGAAATGGTTCTAATTCTGCAACAATAATGTGATATGGAATATACAGCAATAATAATGTGATATGGAACCATCTGTAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCTCATGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATAGTCTTGACCTCTTGACCTCGTGATCTCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCTTGCCCAGCCACATCTGTGATTTTTATTGGTGACAAAGCCACAGGTTCTGCTAATATCGCTGTGATTTATGGCTTCATCCATATAGGAAGGAAATGCTTCATTTCTGTTAGAGGGCGGAAAACATAAAAATGTAACTTTTCATCATCCAAGTTCACAGATGGCCTGGAGGCCCATGGGCCCAGGTTAAGACTGCTGCATGCCCAGCTCTGATTTATGTAGATCTTGCCTAATGCCTAGCCCCGTGCTAGGTACAGGAGATACATCGAGGGTGTGAGCCCCAGGGGATGGAGGGAGCTCATGGTTGAAGGAGTGAGTTGTGGATGTGGCTGGAACAGGGAGGGCAGAAGTGAGAATGTGAGGGGGAAAGGCTGGGCTGGAAAGCCTGGACTTGCCTTCATGTGTCTGCCTCCCTTCCCAGGAGAAACAGATGGAGAAGCAGAGGCTCTTGTACCAGCAAGCACGGCTGCACACCCGGGGGGCGGCCGAGATGGTGCTGCAGATGATCAGTGCCTGCAAAGGTGCCCCTCACATGTGCACTGGACTCTTCCGAGTGCACTCATCCTAACCTCACTCCTCCTGGCTCGCCCATTCCCTGTGGACCCATTTGCCGCCCCTCAATGCCTGTGGTTTGCACGCACACCCCAGCCCTTGCAGCTTCCCCTTGTATACCTGCCTTGCAATTTCTCACTCATCCTTCAATCACGATCACCCCTGCATGCACACCTTGGCACACTCTTAAATCCCCTTCTCTCACATCCCTTGGGATGGCTGTTTTCTGGTGGGTGGAACACACTGCCTTCCAACTGGGTGGACCATCTTTTTTCTCCCACTCCCTCCAGGAGAGACAGGTGCCATGGTGTCCTCCACCCTGAAGCTGGGCATCTCCATCCTCAATGGAGGCAATGCTGAGGTCCAGCAGGTAACAGAGGCAAAGGGACTTCAGAAGAAGGCAAGGAGGGATGAGAGGTTCCTGTGTGACTCCCAGTTTCTCCTCCCCTGCCTCGCCCTCTGCAGAAAATGCTGGATTATCTTAAGGACAAGAAGGAAGTTGGCTTCTTCCAGAGTATCCAGGCACTGATGCAAACATGCAGGTAGGTTCGAGTGGACCTCTTCTTGTTAAGCTGTGTTTGGTGCCACTGCCACCCCACTCCTGGTACCATTTCCAGTTCTGATTCTGCTCTTTCAGTCCAGGGAAAGAGACTCACTCAGAATCGCTCAAATAACAGGGAATTTATTATAAGAATTAATGTAGAACAATAAGGGAGGCAAAATGTCATAGACTTGAAGAATGAGTTGCATTATGAATTCCAGACAGTGGAACCAAAAACTTGAGAATTTAAGGGGAACTTGGCAGTGGGAGATTTAGGAGCTCTCTGATGATCCCAATTAATCTGCCTCTACTGTTGTCTGCCTTTATTCACCTCTTGCTGCCGGCTGATTTTTCCTACCCTCTGCAGCTTTTGCTAAATGGGTGGTTTCTGGTTCCTCATTATTTCAGCTTGCGCATGGTTCATCCTGGCCCAACCATATGTCCTAGCTTCTGCCAACTCTTCATTTCTGCTTCCTCTTGATTTCAGCGCATAGATGGTTTACTGTGGCTCTCCAGGCTACCATGGTGGGGAGCTGCCAGGCCCTGGGAGAGAGGAGGGCAGAGGCTTCATCACATACCCCCTATCTTTCCTTTCTTTTCCTCAGCGTCCTGGATCTCAATGCCTTTGAGAGACAGAACAAGGCCGAGGGGCTGGGCATGGTGAATGAGGATGGCACTGGTGAGGCCCTCCCTTGGGCTTCCCACCCCCTGAGACATCTTCCTTTGGGATTCCTCCCACCCCACCCCCACCCGCCATTGCCCAGAGCTCCCTTCCTCCAAGACACTGGTTCCCAAGGGCTCCCTCGGGTCCCTCCCTCTGCTGTGGTCCCCCAGTCCCACCCCCTCCATCCCCCTGGGGTCTCCCTCCCCATGTCCACCACCCACCTCCGCCCCCCCCCGCCACCAGAAGTCATTCTGTCTTGTGTTCTCACCCATCACTACATGGACCCCACCCTCCACGTGCCCCAAATGTCACGCCCTGGTTGCTGTTCTCTTATTAATGTCCCTAATCCGGGTTAATCGCGTCTCCTCTTTGCCGTGTTGTGACGTGTCTAACCTTTCTACCCGGATCCTCGCTCCTGCCTTTCTACCTCTATGTCTTCATCTCTCTCTCTCCCTCTCCATCCTCTTCTTTCATTCCCTCTGCTTTTACCCTCATTTCCTACCCTCTTCCCTGCTAATCCATTTCCTTCTGTCTCCTTATCACTCTGCCTTTCTCTCTGTGGGTTGTTCCTCTCTCTCTGTGTGTCTTTCTGTGTCTCTGTCCCTGACTGTCATTGTGTGTGTTTGCGGTCTGTCTCCCTCTCTTTTTCTCTCTTTTCTCCTGCTTCCTCCTCCCATCCTGTTGGCTGCCCCAGTCATCAATCGCCAGAACGGTAATTCCCCCAGCCCACCCCCGTGCTGTGCTGCTGTCACCCACCCCTCCTAAC
|
TCTCCTTTGAGGTAGGTGGGCTCAGGAGGTCCTGGAGGGAAGGGATGGGGGACCCTGACTGCAGTCATCTCCCATTCATTCAGCATGTGTTCACAGAGCAAAGCTCTGGGGACACAGCAGTGACCAAGTCAGTCCACTGGGGAGACAGATACACCCGCCAAACTAACACCACGGAGTGTACACCATGGTCATGGGGGAAGCTCAGGCAGAGGGGTCAGGGCTGGAATTGGGGAGGCTCAGGCAGAGGGGTCAGGGCTGGGATTGAGGAGGCTCAGGCAGAGGGGTCAGGGTTGGGATGATGGGGATACAGGCAGAGGGGTCAGGGCCAAGATGGGGGAACCTCAGGGGGATAAAGCAGCCCAAACAAGGTGCCTGACCCAGCCTGCAGGAAAATGTATCAGGGAGGGCTTCTCGGAGGAGGGGACTTCTGAGCAGAAGGATAAAAGGAGCCTGCCAGTTGAAGAAAAAGAGAAAAATGTTCTACGTAGGGAGAATAGTATATGCCAAGGCCAGGCAGCAAGAAAGAGCTAGTAAACATGCAATTCACCGATCCATTCATTCATTGAGACAGTTAGCAAGCATTTACTTCATAGTTTTCTTCACTGTTTCTGTGCCAGAGTCCCTTCTGGCATCTGGTGAAGACTTTCTCAGGATCATGTTTTTAAATGTATAAAATGAATTCATAGCAGAGGAAACAAGTATTGAATAGCTATCAAAATATTTTAAAAATGAATTTGTGATCCAGTAATACTTGTACATTGTTAATCTATCAAATAAGATCTAAGGCTGGGCGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGCGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGATCTAGCAGTAGATCCAACAGCTACTATAATTGAGAAGTAGTGATGAACATAACTGATATTTAAAGACATCTTTGAGCCATTGTGAGTGAGTCTCTCTTCCTGGACCAAAAGAGCAGAATTTGAATAGGAAATGGTTCTAATTCTGCAACAATAATGTGATATGGAATATACAGCAATAATAATGTGATATGGAACCATCTGTAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCTCATGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATAGTCTTGACCTCTTGACCTCGTGATCTCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCTTGCCCAGCCACATCTGTGATTTTTATTGGTGACAAAGCCACAGGTTCTGCTAATATCGCTGTGATTTATGGCTTCATCCATATAGGAAGGAAATGCTTCATTTCTGTTAGAGGGCGGAAAACATAAAAATGTAACTTTTCATCATCCAAGTTCACAGATGGCCTGGAGGCCCATGGGCCCAGGTTAAGACTGCTGCATGCCCAGCTCTGATTTATGTAGATCTTGCCTAATGCCTAGCCCCGTGCTAGGTACAGGAGATACATCGAGGGTGTGAGCCCCAGGGGATGGAGGGAGCTCATGGTTGAAGGAGTGAGTTGTGGATGTGGCTGGAACAGGGAGGGCAGAAGTGAGAATGTGAGGGGGAAAGGCTGGGCTGGAAAGCCTGGACTTGCCTTCATGTGTCTGCCTCCCTTCCCAGGAGAAACAGATGGAGAAGCAGAGGCTCTTGTACCAGCAAGCACGGCTGCACACCCGGGGGGGCGGCCGAGATGGTGCTGCAGATGATCAGTGCCTGCAAAGGTGCCCCTCACATGTGCACTGGACTCTTCCGAGTGCACTCATCCTAACCTCACTCCTCCTGGCTCGCCCATTCCCTGTGGACCCATTTGCCGCCCCTCAATGCCTGTGGTTTGCACGCACACCCCAGCCCTTGCAGCTTCCCCTTGTATACCTGCCTTGCAATTTCTCACTCATCCTTCAATCACGATCACCCCTGCATGCACACCTTGGCACACTCTTAAATCCCCTTCTCTCACATCCCTTGGGATGGCTGTTTTCTGGTGGGTGGAACACACTGCCTTCCAACTGGGTGGACCATCTTTTTTCTCCCACTCCCTCCAGGAGAGACAGGTGCCATGGTGTCCTCCACCCTGAAGCTGGGCATCTCCATCCTCAATGGAGGCAATGCTGAGGTCCAGCAGGTAACAGAGGCAAAGGGACTTCAGAAGAAGGCAAGGAGGGATGAGAGGTTCCTGTGTGACTCCCAGTTTCTCCTCCCCTGCCTCGCCCTCTGCAGAAAATGCTGGATTATCTTAAGGACAAGAAGGAAGTTGGCTTCTTCCAGAGTATCCAGGCACTGATGCAAACATGCAGGTAGGTTCGAGTGGACCTCTTCTTGTTAAGCTGTGTTTGGTGCCACTGCCACCCCACTCCTGGTACCATTTCCAGTTCTGATTCTGCTCTTTCAGTCCAGGGAAAGAGACTCACTCAGAATCGCTCAAATAACAGGGAATTTATTATAAGAATTAATGTAGAACAATAAGGGAGGCAAAATGTCATAGACTTGAAGAATGAGTTGCATTATGAATTCCAGACAGTGGAACCAAAAACTTGAGAATTTAAGGGGAACTTGGCAGTGGGAGATTTAGGAGCTCTCTGATGATCCCAATTAATCTGCCTCTACTGTTGTCTGCCTTTATTCACCTCTTGCTGCCGGCTGATTTTTCCTACCCTCTGCAGCTTTTGCTAAATGGGTGGTTTCTGGTTCCTCATTATTTCAGCTTGCGCATGGTTCATCCTGGCCCAACCATATGTCCTAGCTTCTGCCAACTCTTCATTTCTGCTTCCTCTTGATTTCAGCGCATAGATGGTTTACTGTGGCTCTCCAGGCTACCATGGTGGGGAGCTGCCAGGCCCTGGGAGAGAGGAGGGCAGAGGCTTCATCACATACCCCCTATCTTTCCTTTCTTTTCCTCAGCGTCCTGGATCTCAATGCCTTTGAGAGACAGAACAAGGCCGAGGGGCTGGGCATGGTGAATGAGGATGGCACTGGTGAGGCCCTCCCTTGGGCTTCCCACCCCCTGAGACATCTTCCTTTGGGATTCCTCCCACCCCACCCCCACCCGCCATTGCCCAGAGCTCCCTTCCTCCAAGACACTGGTTCCCAAGGGCTCCCTCGGGTCCCTCCCTCTGCTGTGGTCCCCCAGTCCCACCCCCTCCATCCCCCTGGGGTCTCCCTCCCCATGTCCACCACCCACCTCCGCCCCCCCCCGCCACCAGAAGTCATTCTGTCTTGTGTTCTCACCCATCACTACATGGACCCCACCCTCCACGTGCCCCAAATGTCACGCCCTGGTTGCTGTTCTCTTATTAATGTCCCTAATCCGGGTTAATCGCGTCTCCTCTTTGCCGTGTTGTGACGTGTCTAACCTTTCTACCCGGATCCTCGCTCCTGCCTTTCTACCTCTATGTCTTCATCTCTCTCTCTCCCTCTCCATCCTCTTCTTTCATTCCCTCTGCTTTTACCCTCATTTCCTACCCTCTTCCCTGCTAATCCATTTCCTTCTGTCTCCTTATCACTCTGCCTTTCTCTCTGTGGGTTGTTCCTCTCTCTCTGTGTGTCTTTCTGTGTCTCTGTCCCTGACTGTCATTGTGTGTGTTTGCGGTCTGTCTCCCTCTCTTTTTCTCTCTTTTCTCCTGCTTCCTCCTCCCATCCTGTTGGCTGCCCCAGTCATCAATCGCCAGAACGGTAATTCCCCCAGCCCACCCCCGTGCTGTGCTGCTGTCACCCACCCCTCCTAA
|
pathogenic
| 304,135 |
Determine if the mutation at chromosome 19, position 38534774 in gene RYR1 (ryanodine receptor 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['RYR1-related_disorder']
|
TCTCCTTTGAGGTAGGTGGGCTCAGGAGGTCCTGGAGGGAAGGGATGGGGGACCCTGACTGCAGTCATCTCCCATTCATTCAGCATGTGTTCACAGAGCAAAGCTCTGGGGACACAGCAGTGACCAAGTCAGTCCACTGGGGAGACAGATACACCCGCCAAACTAACACCACGGAGTGTACACCATGGTCATGGGGGAAGCTCAGGCAGAGGGGTCAGGGCTGGAATTGGGGAGGCTCAGGCAGAGGGGTCAGGGCTGGGATTGAGGAGGCTCAGGCAGAGGGGTCAGGGTTGGGATGATGGGGATACAGGCAGAGGGGTCAGGGCCAAGATGGGGGAACCTCAGGGGGATAAAGCAGCCCAAACAAGGTGCCTGACCCAGCCTGCAGGAAAATGTATCAGGGAGGGCTTCTCGGAGGAGGGGACTTCTGAGCAGAAGGATAAAAGGAGCCTGCCAGTTGAAGAAAAAGAGAAAAATGTTCTACGTAGGGAGAATAGTATATGCCAAGGCCAGGCAGCAAGAAAGAGCTAGTAAACATGCAATTCACCGATCCATTCATTCATTGAGACAGTTAGCAAGCATTTACTTCATAGTTTTCTTCACTGTTTCTGTGCCAGAGTCCCTTCTGGCATCTGGTGAAGACTTTCTCAGGATCATGTTTTTAAATGTATAAAATGAATTCATAGCAGAGGAAACAAGTATTGAATAGCTATCAAAATATTTTAAAAATGAATTTGTGATCCAGTAATACTTGTACATTGTTAATCTATCAAATAAGATCTAAGGCTGGGCGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGCGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGATCTAGCAGTAGATCCAACAGCTACTATAATTGAGAAGTAGTGATGAACATAACTGATATTTAAAGACATCTTTGAGCCATTGTGAGTGAGTCTCTCTTCCTGGACCAAAAGAGCAGAATTTGAATAGGAAATGGTTCTAATTCTGCAACAATAATGTGATATGGAATATACAGCAATAATAATGTGATATGGAACCATCTGTAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCTCATGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATAGTCTTGACCTCTTGACCTCGTGATCTCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCTTGCCCAGCCACATCTGTGATTTTTATTGGTGACAAAGCCACAGGTTCTGCTAATATCGCTGTGATTTATGGCTTCATCCATATAGGAAGGAAATGCTTCATTTCTGTTAGAGGGCGGAAAACATAAAAATGTAACTTTTCATCATCCAAGTTCACAGATGGCCTGGAGGCCCATGGGCCCAGGTTAAGACTGCTGCATGCCCAGCTCTGATTTATGTAGATCTTGCCTAATGCCTAGCCCCGTGCTAGGTACAGGAGATACATCGAGGGTGTGAGCCCCAGGGGATGGAGGGAGCTCATGGTTGAAGGAGTGAGTTGTGGATGTGGCTGGAACAGGGAGGGCAGAAGTGAGAATGTGAGGGGGAAAGGCTGGGCTGGAAAGCCTGGACTTGCCTTCATGTGTCTGCCTCCCTTCCCAGGAGAAACAGATGGAGAAGCAGAGGCTCTTGTACCAGCAAGCACGGCTGCACACCCGGGGGGCGGCCGAGATGGTGCTGCAGATGATCAGTGCCTGCAAAGGTGCCCCTCACATGTGCACTGGACTCTTCCGAGTGCACTCATCCTAACCTCACTCCTCCTGGCTCGCCCATTCCCTGTGGACCCATTTGCCGCCCCTCAATGCCTGTGGTTTGCACGCACACCCCAGCCCTTGCAGCTTCCCCTTGTATACCTGCCTTGCAATTTCTCACTCATCCTTCAATCACGATCACCCCTGCATGCACACCTTGGCACACTCTTAAATCCCCTTCTCTCACATCCCTTGGGATGGCTGTTTTCTGGTGGGTGGAACACACTGCCTTCCAACTGGGTGGACCATCTTTTTTCTCCCACTCCCTCCAGGAGAGACAGGTGCCATGGTGTCCTCCACCCTGAAGCTGGGCATCTCCATCCTCAATGGAGGCAATGCTGAGGTCCAGCAGGTAACAGAGGCAAAGGGACTTCAGAAGAAGGCAAGGAGGGATGAGAGGTTCCTGTGTGACTCCCAGTTTCTCCTCCCCTGCCTCGCCCTCTGCAGAAAATGCTGGATTATCTTAAGGACAAGAAGGAAGTTGGCTTCTTCCAGAGTATCCAGGCACTGATGCAAACATGCAGGTAGGTTCGAGTGGACCTCTTCTTGTTAAGCTGTGTTTGGTGCCACTGCCACCCCACTCCTGGTACCATTTCCAGTTCTGATTCTGCTCTTTCAGTCCAGGGAAAGAGACTCACTCAGAATCGCTCAAATAACAGGGAATTTATTATAAGAATTAATGTAGAACAATAAGGGAGGCAAAATGTCATAGACTTGAAGAATGAGTTGCATTATGAATTCCAGACAGTGGAACCAAAAACTTGAGAATTTAAGGGGAACTTGGCAGTGGGAGATTTAGGAGCTCTCTGATGATCCCAATTAATCTGCCTCTACTGTTGTCTGCCTTTATTCACCTCTTGCTGCCGGCTGATTTTTCCTACCCTCTGCAGCTTTTGCTAAATGGGTGGTTTCTGGTTCCTCATTATTTCAGCTTGCGCATGGTTCATCCTGGCCCAACCATATGTCCTAGCTTCTGCCAACTCTTCATTTCTGCTTCCTCTTGATTTCAGCGCATAGATGGTTTACTGTGGCTCTCCAGGCTACCATGGTGGGGAGCTGCCAGGCCCTGGGAGAGAGGAGGGCAGAGGCTTCATCACATACCCCCTATCTTTCCTTTCTTTTCCTCAGCGTCCTGGATCTCAATGCCTTTGAGAGACAGAACAAGGCCGAGGGGCTGGGCATGGTGAATGAGGATGGCACTGGTGAGGCCCTCCCTTGGGCTTCCCACCCCCTGAGACATCTTCCTTTGGGATTCCTCCCACCCCACCCCCACCCGCCATTGCCCAGAGCTCCCTTCCTCCAAGACACTGGTTCCCAAGGGCTCCCTCGGGTCCCTCCCTCTGCTGTGGTCCCCCAGTCCCACCCCCTCCATCCCCCTGGGGTCTCCCTCCCCATGTCCACCACCCACCTCCGCCCCCCCCCGCCACCAGAAGTCATTCTGTCTTGTGTTCTCACCCATCACTACATGGACCCCACCCTCCACGTGCCCCAAATGTCACGCCCTGGTTGCTGTTCTCTTATTAATGTCCCTAATCCGGGTTAATCGCGTCTCCTCTTTGCCGTGTTGTGACGTGTCTAACCTTTCTACCCGGATCCTCGCTCCTGCCTTTCTACCTCTATGTCTTCATCTCTCTCTCTCCCTCTCCATCCTCTTCTTTCATTCCCTCTGCTTTTACCCTCATTTCCTACCCTCTTCCCTGCTAATCCATTTCCTTCTGTCTCCTTATCACTCTGCCTTTCTCTCTGTGGGTTGTTCCTCTCTCTCTGTGTGTCTTTCTGTGTCTCTGTCCCTGACTGTCATTGTGTGTGTTTGCGGTCTGTCTCCCTCTCTTTTTCTCTCTTTTCTCCTGCTTCCTCCTCCCATCCTGTTGGCTGCCCCAGTCATCAATCGCCAGAACGGTAATTCCCCCAGCCCACCCCCGTGCTGTGCTGCTGTCACCCACCCCTCCTAAC
|
TCTCCTTTGAGGTAGGTGGGCTCAGGAGGTCCTGGAGGGAAGGGATGGGGGACCCTGACTGCAGTCATCTCCCATTCATTCAGCATGTGTTCACAGAGCAAAGCTCTGGGGACACAGCAGTGACCAAGTCAGTCCACTGGGGAGACAGATACACCCGCCAAACTAACACCACGGAGTGTACACCATGGTCATGGGGGAAGCTCAGGCAGAGGGGTCAGGGCTGGAATTGGGGAGGCTCAGGCAGAGGGGTCAGGGCTGGGATTGAGGAGGCTCAGGCAGAGGGGTCAGGGTTGGGATGATGGGGATACAGGCAGAGGGGTCAGGGCCAAGATGGGGGAACCTCAGGGGGATAAAGCAGCCCAAACAAGGTGCCTGACCCAGCCTGCAGGAAAATGTATCAGGGAGGGCTTCTCGGAGGAGGGGACTTCTGAGCAGAAGGATAAAAGGAGCCTGCCAGTTGAAGAAAAAGAGAAAAATGTTCTACGTAGGGAGAATAGTATATGCCAAGGCCAGGCAGCAAGAAAGAGCTAGTAAACATGCAATTCACCGATCCATTCATTCATTGAGACAGTTAGCAAGCATTTACTTCATAGTTTTCTTCACTGTTTCTGTGCCAGAGTCCCTTCTGGCATCTGGTGAAGACTTTCTCAGGATCATGTTTTTAAATGTATAAAATGAATTCATAGCAGAGGAAACAAGTATTGAATAGCTATCAAAATATTTTAAAAATGAATTTGTGATCCAGTAATACTTGTACATTGTTAATCTATCAAATAAGATCTAAGGCTGGGCGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGCGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGATCTAGCAGTAGATCCAACAGCTACTATAATTGAGAAGTAGTGATGAACATAACTGATATTTAAAGACATCTTTGAGCCATTGTGAGTGAGTCTCTCTTCCTGGACCAAAAGAGCAGAATTTGAATAGGAAATGGTTCTAATTCTGCAACAATAATGTGATATGGAATATACAGCAATAATAATGTGATATGGAACCATCTGTAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCTCATGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATAGTCTTGACCTCTTGACCTCGTGATCTCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCTTGCCCAGCCACATCTGTGATTTTTATTGGTGACAAAGCCACAGGTTCTGCTAATATCGCTGTGATTTATGGCTTCATCCATATAGGAAGGAAATGCTTCATTTCTGTTAGAGGGCGGAAAACATAAAAATGTAACTTTTCATCATCCAAGTTCACAGATGGCCTGGAGGCCCATGGGCCCAGGTTAAGACTGCTGCATGCCCAGCTCTGATTTATGTAGATCTTGCCTAATGCCTAGCCCCGTGCTAGGTACAGGAGATACATCGAGGGTGTGAGCCCCAGGGGATGGAGGGAGCTCATGGTTGAAGGAGTGAGTTGTGGATGTGGCTGGAACAGGGAGGGCAGAAGTGAGAATGTGAGGGGGAAAGGCTGGGCTGGAAAGCCTGGACTTGCCTTCATGTGTCTGCCTCCCTTCCCAGGAGAAACAGATGGAGAAGCAGAGGCTCTTGTACCAGCAAGCACGGCTGCACACCCGGGGGCGGCCGAGATGGTGCTGCAGATGATCAGTGCCTGCAAAGGTGCCCCTCACATGTGCACTGGACTCTTCCGAGTGCACTCATCCTAACCTCACTCCTCCTGGCTCGCCCATTCCCTGTGGACCCATTTGCCGCCCCTCAATGCCTGTGGTTTGCACGCACACCCCAGCCCTTGCAGCTTCCCCTTGTATACCTGCCTTGCAATTTCTCACTCATCCTTCAATCACGATCACCCCTGCATGCACACCTTGGCACACTCTTAAATCCCCTTCTCTCACATCCCTTGGGATGGCTGTTTTCTGGTGGGTGGAACACACTGCCTTCCAACTGGGTGGACCATCTTTTTTCTCCCACTCCCTCCAGGAGAGACAGGTGCCATGGTGTCCTCCACCCTGAAGCTGGGCATCTCCATCCTCAATGGAGGCAATGCTGAGGTCCAGCAGGTAACAGAGGCAAAGGGACTTCAGAAGAAGGCAAGGAGGGATGAGAGGTTCCTGTGTGACTCCCAGTTTCTCCTCCCCTGCCTCGCCCTCTGCAGAAAATGCTGGATTATCTTAAGGACAAGAAGGAAGTTGGCTTCTTCCAGAGTATCCAGGCACTGATGCAAACATGCAGGTAGGTTCGAGTGGACCTCTTCTTGTTAAGCTGTGTTTGGTGCCACTGCCACCCCACTCCTGGTACCATTTCCAGTTCTGATTCTGCTCTTTCAGTCCAGGGAAAGAGACTCACTCAGAATCGCTCAAATAACAGGGAATTTATTATAAGAATTAATGTAGAACAATAAGGGAGGCAAAATGTCATAGACTTGAAGAATGAGTTGCATTATGAATTCCAGACAGTGGAACCAAAAACTTGAGAATTTAAGGGGAACTTGGCAGTGGGAGATTTAGGAGCTCTCTGATGATCCCAATTAATCTGCCTCTACTGTTGTCTGCCTTTATTCACCTCTTGCTGCCGGCTGATTTTTCCTACCCTCTGCAGCTTTTGCTAAATGGGTGGTTTCTGGTTCCTCATTATTTCAGCTTGCGCATGGTTCATCCTGGCCCAACCATATGTCCTAGCTTCTGCCAACTCTTCATTTCTGCTTCCTCTTGATTTCAGCGCATAGATGGTTTACTGTGGCTCTCCAGGCTACCATGGTGGGGAGCTGCCAGGCCCTGGGAGAGAGGAGGGCAGAGGCTTCATCACATACCCCCTATCTTTCCTTTCTTTTCCTCAGCGTCCTGGATCTCAATGCCTTTGAGAGACAGAACAAGGCCGAGGGGCTGGGCATGGTGAATGAGGATGGCACTGGTGAGGCCCTCCCTTGGGCTTCCCACCCCCTGAGACATCTTCCTTTGGGATTCCTCCCACCCCACCCCCACCCGCCATTGCCCAGAGCTCCCTTCCTCCAAGACACTGGTTCCCAAGGGCTCCCTCGGGTCCCTCCCTCTGCTGTGGTCCCCCAGTCCCACCCCCTCCATCCCCCTGGGGTCTCCCTCCCCATGTCCACCACCCACCTCCGCCCCCCCCCGCCACCAGAAGTCATTCTGTCTTGTGTTCTCACCCATCACTACATGGACCCCACCCTCCACGTGCCCCAAATGTCACGCCCTGGTTGCTGTTCTCTTATTAATGTCCCTAATCCGGGTTAATCGCGTCTCCTCTTTGCCGTGTTGTGACGTGTCTAACCTTTCTACCCGGATCCTCGCTCCTGCCTTTCTACCTCTATGTCTTCATCTCTCTCTCTCCCTCTCCATCCTCTTCTTTCATTCCCTCTGCTTTTACCCTCATTTCCTACCCTCTTCCCTGCTAATCCATTTCCTTCTGTCTCCTTATCACTCTGCCTTTCTCTCTGTGGGTTGTTCCTCTCTCTCTGTGTGTCTTTCTGTGTCTCTGTCCCTGACTGTCATTGTGTGTGTTTGCGGTCTGTCTCCCTCTCTTTTTCTCTCTTTTCTCCTGCTTCCTCCTCCCATCCTGTTGGCTGCCCCAGTCATCAATCGCCAGAACGGTAATTCCCCCAGCCCACCCCCGTGCTGTGCTGCTGTCACCCACCCCTCCTAACN
|
pathogenic
| 304,136 |
Is the variant located on chromosome 19 at position 38535136, gene RYR1 (ryanodine receptor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic
|
AACAAGGTGCCTGACCCAGCCTGCAGGAAAATGTATCAGGGAGGGCTTCTCGGAGGAGGGGACTTCTGAGCAGAAGGATAAAAGGAGCCTGCCAGTTGAAGAAAAAGAGAAAAATGTTCTACGTAGGGAGAATAGTATATGCCAAGGCCAGGCAGCAAGAAAGAGCTAGTAAACATGCAATTCACCGATCCATTCATTCATTGAGACAGTTAGCAAGCATTTACTTCATAGTTTTCTTCACTGTTTCTGTGCCAGAGTCCCTTCTGGCATCTGGTGAAGACTTTCTCAGGATCATGTTTTTAAATGTATAAAATGAATTCATAGCAGAGGAAACAAGTATTGAATAGCTATCAAAATATTTTAAAAATGAATTTGTGATCCAGTAATACTTGTACATTGTTAATCTATCAAATAAGATCTAAGGCTGGGCGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGCGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGATCTAGCAGTAGATCCAACAGCTACTATAATTGAGAAGTAGTGATGAACATAACTGATATTTAAAGACATCTTTGAGCCATTGTGAGTGAGTCTCTCTTCCTGGACCAAAAGAGCAGAATTTGAATAGGAAATGGTTCTAATTCTGCAACAATAATGTGATATGGAATATACAGCAATAATAATGTGATATGGAACCATCTGTAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCTCATGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATAGTCTTGACCTCTTGACCTCGTGATCTCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCTTGCCCAGCCACATCTGTGATTTTTATTGGTGACAAAGCCACAGGTTCTGCTAATATCGCTGTGATTTATGGCTTCATCCATATAGGAAGGAAATGCTTCATTTCTGTTAGAGGGCGGAAAACATAAAAATGTAACTTTTCATCATCCAAGTTCACAGATGGCCTGGAGGCCCATGGGCCCAGGTTAAGACTGCTGCATGCCCAGCTCTGATTTATGTAGATCTTGCCTAATGCCTAGCCCCGTGCTAGGTACAGGAGATACATCGAGGGTGTGAGCCCCAGGGGATGGAGGGAGCTCATGGTTGAAGGAGTGAGTTGTGGATGTGGCTGGAACAGGGAGGGCAGAAGTGAGAATGTGAGGGGGAAAGGCTGGGCTGGAAAGCCTGGACTTGCCTTCATGTGTCTGCCTCCCTTCCCAGGAGAAACAGATGGAGAAGCAGAGGCTCTTGTACCAGCAAGCACGGCTGCACACCCGGGGGGCGGCCGAGATGGTGCTGCAGATGATCAGTGCCTGCAAAGGTGCCCCTCACATGTGCACTGGACTCTTCCGAGTGCACTCATCCTAACCTCACTCCTCCTGGCTCGCCCATTCCCTGTGGACCCATTTGCCGCCCCTCAATGCCTGTGGTTTGCACGCACACCCCAGCCCTTGCAGCTTCCCCTTGTATACCTGCCTTGCAATTTCTCACTCATCCTTCAATCACGATCACCCCTGCATGCACACCTTGGCACACTCTTAAATCCCCTTCTCTCACATCCCTTGGGATGGCTGTTTTCTGGTGGGTGGAACACACTGCCTTCCAACTGGGTGGACCATCTTTTTTCTCCCACTCCCTCCAGGAGAGACAGGTGCCATGGTGTCCTCCACCCTGAAGCTGGGCATCTCCATCCTCAATGGAGGCAATGCTGAGGTCCAGCAGGTAACAGAGGCAAAGGGACTTCAGAAGAAGGCAAGGAGGGATGAGAGGTTCCTGTGTGACTCCCAGTTTCTCCTCCCCTGCCTCGCCCTCTGCAGAAAATGCTGGATTATCTTAAGGACAAGAAGGAAGTTGGCTTCTTCCAGAGTATCCAGGCACTGATGCAAACATGCAGGTAGGTTCGAGTGGACCTCTTCTTGTTAAGCTGTGTTTGGTGCCACTGCCACCCCACTCCTGGTACCATTTCCAGTTCTGATTCTGCTCTTTCAGTCCAGGGAAAGAGACTCACTCAGAATCGCTCAAATAACAGGGAATTTATTATAAGAATTAATGTAGAACAATAAGGGAGGCAAAATGTCATAGACTTGAAGAATGAGTTGCATTATGAATTCCAGACAGTGGAACCAAAAACTTGAGAATTTAAGGGGAACTTGGCAGTGGGAGATTTAGGAGCTCTCTGATGATCCCAATTAATCTGCCTCTACTGTTGTCTGCCTTTATTCACCTCTTGCTGCCGGCTGATTTTTCCTACCCTCTGCAGCTTTTGCTAAATGGGTGGTTTCTGGTTCCTCATTATTTCAGCTTGCGCATGGTTCATCCTGGCCCAACCATATGTCCTAGCTTCTGCCAACTCTTCATTTCTGCTTCCTCTTGATTTCAGCGCATAGATGGTTTACTGTGGCTCTCCAGGCTACCATGGTGGGGAGCTGCCAGGCCCTGGGAGAGAGGAGGGCAGAGGCTTCATCACATACCCCCTATCTTTCCTTTCTTTTCCTCAGCGTCCTGGATCTCAATGCCTTTGAGAGACAGAACAAGGCCGAGGGGCTGGGCATGGTGAATGAGGATGGCACTGGTGAGGCCCTCCCTTGGGCTTCCCACCCCCTGAGACATCTTCCTTTGGGATTCCTCCCACCCCACCCCCACCCGCCATTGCCCAGAGCTCCCTTCCTCCAAGACACTGGTTCCCAAGGGCTCCCTCGGGTCCCTCCCTCTGCTGTGGTCCCCCAGTCCCACCCCCTCCATCCCCCTGGGGTCTCCCTCCCCATGTCCACCACCCACCTCCGCCCCCCCCCGCCACCAGAAGTCATTCTGTCTTGTGTTCTCACCCATCACTACATGGACCCCACCCTCCACGTGCCCCAAATGTCACGCCCTGGTTGCTGTTCTCTTATTAATGTCCCTAATCCGGGTTAATCGCGTCTCCTCTTTGCCGTGTTGTGACGTGTCTAACCTTTCTACCCGGATCCTCGCTCCTGCCTTTCTACCTCTATGTCTTCATCTCTCTCTCTCCCTCTCCATCCTCTTCTTTCATTCCCTCTGCTTTTACCCTCATTTCCTACCCTCTTCCCTGCTAATCCATTTCCTTCTGTCTCCTTATCACTCTGCCTTTCTCTCTGTGGGTTGTTCCTCTCTCTCTGTGTGTCTTTCTGTGTCTCTGTCCCTGACTGTCATTGTGTGTGTTTGCGGTCTGTCTCCCTCTCTTTTTCTCTCTTTTCTCCTGCTTCCTCCTCCCATCCTGTTGGCTGCCCCAGTCATCAATCGCCAGAACGGTAATTCCCCCAGCCCACCCCCGTGCTGTGCTGCTGTCACCCACCCCTCCTAACCCCGTCCACCCCTCCACCTAGGGGCTGAGGATCTGGGACGTGGAGGGGAGGGAGGGACCCTTCAGCAGGTGCACCCTGCCAGTGCAAAACCTGGAGATCAGGAGTCTGGGGAGCATGATTCAGGTCCCAGATCAGCCACTGAGAATACATGGGCCTGTGAACAAGTCTCTTACCTTCCCTAAGCTTCACTTTCCCCATGTGTGAAGCAGAAGCTAGAGAACATGGTAAAGATCTCTTTCCAGCTGGATATTGTCGGACTTCCAGACCCAGATTCGCAGTCCCGGTGTGGAGTGATCCCCACTCCCACCTACTCTGCTCTCTGCACCCCGACCTCAGATTGGTCAGTCAGCGTTTCCCATCCA
|
AACAAGGTGCCTGACCCAGCCTGCAGGAAAATGTATCAGGGAGGGCTTCTCGGAGGAGGGGACTTCTGAGCAGAAGGATAAAAGGAGCCTGCCAGTTGAAGAAAAAGAGAAAAATGTTCTACGTAGGGAGAATAGTATATGCCAAGGCCAGGCAGCAAGAAAGAGCTAGTAAACATGCAATTCACCGATCCATTCATTCATTGAGACAGTTAGCAAGCATTTACTTCATAGTTTTCTTCACTGTTTCTGTGCCAGAGTCCCTTCTGGCATCTGGTGAAGACTTTCTCAGGATCATGTTTTTAAATGTATAAAATGAATTCATAGCAGAGGAAACAAGTATTGAATAGCTATCAAAATATTTTAAAAATGAATTTGTGATCCAGTAATACTTGTACATTGTTAATCTATCAAATAAGATCTAAGGCTGGGCGCAGTGGCTCACACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATGAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGCGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGATCTAGCAGTAGATCCAACAGCTACTATAATTGAGAAGTAGTGATGAACATAACTGATATTTAAAGACATCTTTGAGCCATTGTGAGTGAGTCTCTCTTCCTGGACCAAAAGAGCAGAATTTGAATAGGAAATGGTTCTAATTCTGCAACAATAATGTGATATGGAATATACAGCAATAATAATGTGATATGGAACCATCTGTAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCTCATGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATAGTCTTGACCTCTTGACCTCGTGATCTCCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCTTGCCCAGCCACATCTGTGATTTTTATTGGTGACAAAGCCACAGGTTCTGCTAATATCGCTGTGATTTATGGCTTCATCCATATAGGAAGGAAATGCTTCATTTCTGTTAGAGGGCGGAAAACATAAAAATGTAACTTTTCATCATCCAAGTTCACAGATGGCCTGGAGGCCCATGGGCCCAGGTTAAGACTGCTGCATGCCCAGCTCTGATTTATGTAGATCTTGCCTAATGCCTAGCCCCGTGCTAGGTACAGGAGATACATCGAGGGTGTGAGCCCCAGGGGATGGAGGGAGCTCATGGTTGAAGGAGTGAGTTGTGGATGTGGCTGGAACAGGGAGGGCAGAAGTGAGAATGTGAGGGGGAAAGGCTGGGCTGGAAAGCCTGGACTTGCCTTCATGTGTCTGCCTCCCTTCCCAGGAGAAACAGATGGAGAAGCAGAGGCTCTTGTACCAGCAAGCACGGCTGCACACCCGGGGGGCGGCCGAGATGGTGCTGCAGATGATCAGTGCCTGCAAAGGTGCCCCTCACATGTGCACTGGACTCTTCCGAGTGCACTCATCCTAACCTCACTCCTCCTGGCTCGCCCATTCCCTGTGGACCCATTTGCCGCCCCTCAATGCCTGTGGTTTGCACGCACACCCCAGCCCTTGCAGCTTCCCCTTGTATACCTGCCTTGCAATTTCTCACTCATCCTTCAATCACGATCACCCCTGCATGCACACCTTGGCACACTCTTAAATCCCCTTCTCTCACATCCCTTGGGATGGCTGTTTTCTGGTGGGTGGAACACACTGCCTTCCAACTGGGTGGACCATCTTTTTTCTCCCACTCCCTCCATGGTGTCCTCCACCCTGAAGCTGGGCATCTCCATCCTCAATGGAGGCAATGCTGAGGTCCAGCAGGTAACAGAGGCAAAGGGACTTCAGAAGAAGGCAAGGAGGGATGAGAGGTTCCTGTGTGACTCCCAGTTTCTCCTCCCCTGCCTCGCCCTCTGCAGAAAATGCTGGATTATCTTAAGGACAAGAAGGAAGTTGGCTTCTTCCAGAGTATCCAGGCACTGATGCAAACATGCAGGTAGGTTCGAGTGGACCTCTTCTTGTTAAGCTGTGTTTGGTGCCACTGCCACCCCACTCCTGGTACCATTTCCAGTTCTGATTCTGCTCTTTCAGTCCAGGGAAAGAGACTCACTCAGAATCGCTCAAATAACAGGGAATTTATTATAAGAATTAATGTAGAACAATAAGGGAGGCAAAATGTCATAGACTTGAAGAATGAGTTGCATTATGAATTCCAGACAGTGGAACCAAAAACTTGAGAATTTAAGGGGAACTTGGCAGTGGGAGATTTAGGAGCTCTCTGATGATCCCAATTAATCTGCCTCTACTGTTGTCTGCCTTTATTCACCTCTTGCTGCCGGCTGATTTTTCCTACCCTCTGCAGCTTTTGCTAAATGGGTGGTTTCTGGTTCCTCATTATTTCAGCTTGCGCATGGTTCATCCTGGCCCAACCATATGTCCTAGCTTCTGCCAACTCTTCATTTCTGCTTCCTCTTGATTTCAGCGCATAGATGGTTTACTGTGGCTCTCCAGGCTACCATGGTGGGGAGCTGCCAGGCCCTGGGAGAGAGGAGGGCAGAGGCTTCATCACATACCCCCTATCTTTCCTTTCTTTTCCTCAGCGTCCTGGATCTCAATGCCTTTGAGAGACAGAACAAGGCCGAGGGGCTGGGCATGGTGAATGAGGATGGCACTGGTGAGGCCCTCCCTTGGGCTTCCCACCCCCTGAGACATCTTCCTTTGGGATTCCTCCCACCCCACCCCCACCCGCCATTGCCCAGAGCTCCCTTCCTCCAAGACACTGGTTCCCAAGGGCTCCCTCGGGTCCCTCCCTCTGCTGTGGTCCCCCAGTCCCACCCCCTCCATCCCCCTGGGGTCTCCCTCCCCATGTCCACCACCCACCTCCGCCCCCCCCCGCCACCAGAAGTCATTCTGTCTTGTGTTCTCACCCATCACTACATGGACCCCACCCTCCACGTGCCCCAAATGTCACGCCCTGGTTGCTGTTCTCTTATTAATGTCCCTAATCCGGGTTAATCGCGTCTCCTCTTTGCCGTGTTGTGACGTGTCTAACCTTTCTACCCGGATCCTCGCTCCTGCCTTTCTACCTCTATGTCTTCATCTCTCTCTCTCCCTCTCCATCCTCTTCTTTCATTCCCTCTGCTTTTACCCTCATTTCCTACCCTCTTCCCTGCTAATCCATTTCCTTCTGTCTCCTTATCACTCTGCCTTTCTCTCTGTGGGTTGTTCCTCTCTCTCTGTGTGTCTTTCTGTGTCTCTGTCCCTGACTGTCATTGTGTGTGTTTGCGGTCTGTCTCCCTCTCTTTTTCTCTCTTTTCTCCTGCTTCCTCCTCCCATCCTGTTGGCTGCCCCAGTCATCAATCGCCAGAACGGTAATTCCCCCAGCCCACCCCCGTGCTGTGCTGCTGTCACCCACCCCTCCTAACCCCGTCCACCCCTCCACCTAGGGGCTGAGGATCTGGGACGTGGAGGGGAGGGAGGGACCCTTCAGCAGGTGCACCCTGCCAGTGCAAAACCTGGAGATCAGGAGTCTGGGGAGCATGATTCAGGTCCCAGATCAGCCACTGAGAATACATGGGCCTGTGAACAAGTCTCTTACCTTCCCTAAGCTTCACTTTCCCCATGTGTGAAGCAGAAGCTAGAGAACATGGTAAAGATCTCTTTCCAGCTGGATATTGTCGGACTTCCAGACCCAGATTCGCAGTCCCGGTGTGGAGTGATCCCCACTCCCACCTACTCTGCTCTCTGCACCCCGACCTCAGATTGGTCAGTCAGCGTTTCCCATCCANNNNNNNNNNNNNNNN
|
pathogenic
| 304,140 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 38548246, gene RYR1 (ryanodine receptor 1). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['RYR1-related_disorder']
|
TGTCTGCCAGCCTTCCCACTACCCATCACCTATCGAGCCCGTCCCCCAAGTGCCAACCCCACCCCCACAATCTTGTCTCTCTGCCCCTTCCCCTGCTTCCGAGGAACATGTCTGGACTCGGGTCCCCTCGGAGGTAAGAGGGGAGAAAACGGGTTTAGGCCCTGCTGGGTAGGTGAGGAGGGGGAGAAGCAACAGAGGTGGGGGAGGTGTATGCTGAGACCAGCCCTCACCGAGCTGGGATCTCTAGGACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAGGACATGGTGGTGATGTTGCTGTCGCTACTAGAAGGTAAACACCCAGGAGTGAGGGTGAGGGAACAGTAAAGAGGTTCAGAGAAGCCTGAGAATGGCCCCCTGAGACCCGGGAGACCCTAATCCTCAACCCCATCTGACATCGTGTCAGGATCCATGGGTTGATGAAGAAGCCATAATAGGCCAGATGCGGTGGCTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCTAGTGTGGTGGTGTGTGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACCAGAGCCCGGGAGGTCCAGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAACAAACCCCAAAAACAAACCAAATGTCCAAATGTGGCAAAAGATAAACAATTGATGAATGTGGATATATTAGGATCCCTTTTTTTTTTTTTTCTTTTCTGAGACGGAGTCTCGCTCTGCCGCTCAGGCTGGAGGTGCGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCTTGGCCTCCCCGGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGATGGTCTGGATCTCCTGACTTCGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACTGCGCCCAGCCTACATTAAAATTTAAAAATTACAAAAATAAACTGGAGCCAAGCTTCAGCTGCTGCCTTTAGAGGGAGTGTGGGATCGCAGTTTGCCAATCTCTACCTCTCCTTGCTGCTTACCACTGGCTAGCCTCAGTCTTCTGTGGACCCTCCTGACTGTGTGTACTGGTGGAAGTTTTAGTTGTGTAAGCCCTGAGGTCATGCAGCTCTGAGTTCAAATCCATTCTCCCCACTTTACTGGCTATGTAACTTTGAGTGCATGACTTTCTCTATGTCTCAGTTTCTCTTCCTAAAAGTAGAGTCACACACTTCCCTTTTTGTGTGATTGTGCCAGGGTAGCATTTGGCACCTACCTTTAGCGTACATCATCATTATCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCATCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGAAATACAAGCACATGCCACCACGCCCAGCTGATTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGTCCGACCTGACATCATTAGCTTTACTGGGGGAGGTGGGCAAAGGCAGGATCAGCCAGGTTGGCACAGGAGGCTGACGCAGGTCAGGAAGGGACCTGTGGAGGGGAGGCTGTGGCTGGCCAGGGACACTCCAGCAGCGTGGTGGCTCCTGGGCTGGAAAGAGAGGCAAGCCTGGTGGGGCCCCAGAAGGGAGTGTTCACCGGCCACACTGACCTGGGGCTGCCTGCAGGGAACGTGGTGAACGGCATGATCGCCCGGCAGATGGTGGACATGCTCGTGGAATCCTCATCCAATGTGGAGATGATCCTCAAGTTCTTCGACATGTTCCTGAAACTCAAGGACATTGTGGGCTCTGAAGCCTTCCAGGACTACGTAACGGATCCCCGTGGCCTCATCTCCAAGAAGGACTTCCAGAAGGTGGGTGTGGGACATCGTGTGGGCCCAGGACTTGGGTGGGGTTGCCAAGGGCCAGCCATACCCTTCTGGCTGGCTGCCTCAGGCAAGAGACATCTCTGCAAGCCTCACTTTCCTTGTTTGTAAAATGAGGATAAAACAGTCCTTGGGTTATATGTATTCTGTTTTATTTCATTTTAGAGACAAGGTCTTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGTTGGGACGACGGGTGTGTGACATCATGCCTGGCTAATTTTTAAGTTTATTTTTTGTAGAGATGTGGTCTCACTACATTACCCAGGCTCCTCTTGAACTCTTGGGCTCCAACAATTCTCCTACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCTCGCTCAGCCCCCTTGGGTTATTTTGAGGATGAAATGCATTAACACAGATGAGAACCGTTATTACTGTTATCTTTATTGATAGTCATAACATTATCATTATTGTGAATAGGCATCAGTTATTCCATCAATAAACATTGGCTGGCTTTCTTCTCTGTGTAGGGCCTGTAGTGACACTATTGACGCATCAATGACCAAGATAGACACAGCCCGTGCTTTCATGGGTTTATAGTCTAATGGGGGAGGCAGTCACTAACTAGACCATTCCAAGTCTAAATAATGAGCCTGCTAGGAGGGAAGTGCTGGAACATCCTTATTCAGAAACCCACTCCTCCTCCTCTAACCACCTCTCCCATCCTAACTCTCCATCTTTTCTTCTGAGCCTCAGTTTCCTACTCTGTAAAATGGGGATAGGATAATCACATTAACCACTAACTATTGGCAGTGTGCGGTGGTTCATGCCTATAATCCCAGCAATTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAAGAGTTCGAGATCAGCCTGGGCAACCTAGTGAAACCCTGTATCTATAAAAATAAAAATAAAACAACTATTAACTATTGTGAGGATGGGCAGTGCGGGCAGTACCTGGAATATGGTGAGTCCTCAAGAGATGTTAGCTGCTATTACTACTCCCTGATCTTTAATGTTACCATTTTGTTAACTTTTTATTTTGAAATAACTTCAGGTTTATAGAGACGTTGCAAGAACAGCACATAGAATTTCTGAATACCTTTCACCCACATTGCCCAAATGTTTTCTATTTACTATTTACTCCATCATGATTTCCCTTTCCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCAGTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCATGCCCAGCTAAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAACCACCTCGCCTAGCCAATTTCCCTTTACTTTGAAACACTTCAGCGTGTATCTCCTGAGAACAAATTCATTCTCCTACCTAAGCACAGGACAATTATGCTAATCAGGAAATTAACATTGGCACAATGCTGCTATCTAATCCTAGACCTTATTCAGTTTCCCTTGTTGAATAAATTTCTTTCGTCAATGTCTTTTCTTTGCCAACCCAGAACCAGGGATTGTATTTAGGTGTTCTGTCTGTTTTCCTCCTTCAGT
|
TGTCTGCCAGCCTTCCCACTACCCATCACCTATCGAGCCCGTCCCCCAAGTGCCAACCCCACCCCCACAATCTTGTCTCTCTGCCCCTTCCCCTGCTTCCGAGGAACATGTCTGGACTCGGGTCCCCTCGGAGGTAAGAGGGGAGAAAACGGGTTTAGGCCCTGCTGGGTAGGTGAGGAGGGGGAGAAGCAACAGAGGTGGGGGAGGTGTATGCTGAGACCAGCCCTCACCGAGCTGGGATCTCTAGGACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAGGACATGGTGGTGATGTTGCTGTCGCTACTAGAAGGTAAACACCCAGGAGTGAGGGTGAGGGAACAGTAAAGAGGTTCAGAGAAGCCTGAGAATGGCCCCCTGAGACCCGGGAGACCCTAATCCTCAACCCCATCTGACATCGTGTCAGGATCCATGGGTTGATGAAGAAGCCATAATAGGCCAGATGCGGTGGCTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCTAGTGTGGTGGTGTGTGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACCAGAGCCCGGGAGGTCCAGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAACAAACCCCAAAAACAAACCAAATGTCCAAATGTGGCAAAAGATAAACAATTGATGAATGTGGATATATTAGGATCCCTTTTTTTTTTTTTTCTTTTCTGAGACGGAGTCTCGCTCTGCCGCTCAGGCTGGAGGTGCGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCTTGGCCTCCCCGGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGATGGTCTGGATCTCCTGACTTCGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACTGCGCCCAGCCTACATTAAAATTTAAAAATTACAAAAATAAACTGGAGCCAAGCTTCAGCTGCTGCCTTTAGAGGGAGTGTGGGATCGCAGTTTGCCAATCTCTACCTCTCCTTGCTGCTTACCACTGGCTAGCCTCAGTCTTCTGTGGACCCTCCTGACTGTGTGTACTGGTGGAAGTTTTAGTTGTGTAAGCCCTGAGGTCATGCAGCTCTGAGTTCAAATCCATTCTCCCCACTTTACTGGCTATGTAACTTTGAGTGCATGACTTTCTCTATGTCTCAGTTTCTCTTCCTAAAAGTAGAGTCACACACTTCCCTTTTTGTGTGATTGTGCCAGGGTAGCATTTGGCACCTACCTTTAGCGTACATCATCATTATCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCATCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGAAATACAAGCACATGCCACCACGCCCAGCTGATTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGTCCGACCTGACATCATTAGCTTTACTGGGGGAGGTGGGCAAAGGCAGGATCAGCCAGGTTGGCACAGGAGGCTGACGCAGGTCAGGAAGGGACCTGTGGAGGGGAGGCTGTGGCTGGCCAGGGACACTCCAGCAGCGTGGTGGCTCCTGGGCTGGAAAGAGAGGCAAGCCTGGTGGGGCCCCAGAAGGGAGTGTTCACCGGCCACACTGACCTGGGGCTGCCTGCAGGGAACGTGGTGAACGCATGATCGCCCGGCAGATGGTGGACATGCTCGTGGAATCCTCATCCAATGTGGAGATGATCCTCAAGTTCTTCGACATGTTCCTGAAACTCAAGGACATTGTGGGCTCTGAAGCCTTCCAGGACTACGTAACGGATCCCCGTGGCCTCATCTCCAAGAAGGACTTCCAGAAGGTGGGTGTGGGACATCGTGTGGGCCCAGGACTTGGGTGGGGTTGCCAAGGGCCAGCCATACCCTTCTGGCTGGCTGCCTCAGGCAAGAGACATCTCTGCAAGCCTCACTTTCCTTGTTTGTAAAATGAGGATAAAACAGTCCTTGGGTTATATGTATTCTGTTTTATTTCATTTTAGAGACAAGGTCTTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGTTGGGACGACGGGTGTGTGACATCATGCCTGGCTAATTTTTAAGTTTATTTTTTGTAGAGATGTGGTCTCACTACATTACCCAGGCTCCTCTTGAACTCTTGGGCTCCAACAATTCTCCTACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCTCGCTCAGCCCCCTTGGGTTATTTTGAGGATGAAATGCATTAACACAGATGAGAACCGTTATTACTGTTATCTTTATTGATAGTCATAACATTATCATTATTGTGAATAGGCATCAGTTATTCCATCAATAAACATTGGCTGGCTTTCTTCTCTGTGTAGGGCCTGTAGTGACACTATTGACGCATCAATGACCAAGATAGACACAGCCCGTGCTTTCATGGGTTTATAGTCTAATGGGGGAGGCAGTCACTAACTAGACCATTCCAAGTCTAAATAATGAGCCTGCTAGGAGGGAAGTGCTGGAACATCCTTATTCAGAAACCCACTCCTCCTCCTCTAACCACCTCTCCCATCCTAACTCTCCATCTTTTCTTCTGAGCCTCAGTTTCCTACTCTGTAAAATGGGGATAGGATAATCACATTAACCACTAACTATTGGCAGTGTGCGGTGGTTCATGCCTATAATCCCAGCAATTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAAGAGTTCGAGATCAGCCTGGGCAACCTAGTGAAACCCTGTATCTATAAAAATAAAAATAAAACAACTATTAACTATTGTGAGGATGGGCAGTGCGGGCAGTACCTGGAATATGGTGAGTCCTCAAGAGATGTTAGCTGCTATTACTACTCCCTGATCTTTAATGTTACCATTTTGTTAACTTTTTATTTTGAAATAACTTCAGGTTTATAGAGACGTTGCAAGAACAGCACATAGAATTTCTGAATACCTTTCACCCACATTGCCCAAATGTTTTCTATTTACTATTTACTCCATCATGATTTCCCTTTCCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCAGTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCATGCCCAGCTAAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAACCACCTCGCCTAGCCAATTTCCCTTTACTTTGAAACACTTCAGCGTGTATCTCCTGAGAACAAATTCATTCTCCTACCTAAGCACAGGACAATTATGCTAATCAGGAAATTAACATTGGCACAATGCTGCTATCTAATCCTAGACCTTATTCAGTTTCCCTTGTTGAATAAATTTCTTTCGTCAATGTCTTTTCTTTGCCAACCCAGAACCAGGGATTGTATTTAGGTGTTCTGTCTGTTTTCCTCCTTCAGTN
|
pathogenic
| 304,204 |
Regarding the variant found on chromosome 19 at position 38548250 in gene RYR1 (ryanodine receptor 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['RYR1-related_disorder']
|
TGCCAGCCTTCCCACTACCCATCACCTATCGAGCCCGTCCCCCAAGTGCCAACCCCACCCCCACAATCTTGTCTCTCTGCCCCTTCCCCTGCTTCCGAGGAACATGTCTGGACTCGGGTCCCCTCGGAGGTAAGAGGGGAGAAAACGGGTTTAGGCCCTGCTGGGTAGGTGAGGAGGGGGAGAAGCAACAGAGGTGGGGGAGGTGTATGCTGAGACCAGCCCTCACCGAGCTGGGATCTCTAGGACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAGGACATGGTGGTGATGTTGCTGTCGCTACTAGAAGGTAAACACCCAGGAGTGAGGGTGAGGGAACAGTAAAGAGGTTCAGAGAAGCCTGAGAATGGCCCCCTGAGACCCGGGAGACCCTAATCCTCAACCCCATCTGACATCGTGTCAGGATCCATGGGTTGATGAAGAAGCCATAATAGGCCAGATGCGGTGGCTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCTAGTGTGGTGGTGTGTGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACCAGAGCCCGGGAGGTCCAGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAACAAACCCCAAAAACAAACCAAATGTCCAAATGTGGCAAAAGATAAACAATTGATGAATGTGGATATATTAGGATCCCTTTTTTTTTTTTTTCTTTTCTGAGACGGAGTCTCGCTCTGCCGCTCAGGCTGGAGGTGCGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCTTGGCCTCCCCGGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGATGGTCTGGATCTCCTGACTTCGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACTGCGCCCAGCCTACATTAAAATTTAAAAATTACAAAAATAAACTGGAGCCAAGCTTCAGCTGCTGCCTTTAGAGGGAGTGTGGGATCGCAGTTTGCCAATCTCTACCTCTCCTTGCTGCTTACCACTGGCTAGCCTCAGTCTTCTGTGGACCCTCCTGACTGTGTGTACTGGTGGAAGTTTTAGTTGTGTAAGCCCTGAGGTCATGCAGCTCTGAGTTCAAATCCATTCTCCCCACTTTACTGGCTATGTAACTTTGAGTGCATGACTTTCTCTATGTCTCAGTTTCTCTTCCTAAAAGTAGAGTCACACACTTCCCTTTTTGTGTGATTGTGCCAGGGTAGCATTTGGCACCTACCTTTAGCGTACATCATCATTATCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCATCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGAAATACAAGCACATGCCACCACGCCCAGCTGATTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGTCCGACCTGACATCATTAGCTTTACTGGGGGAGGTGGGCAAAGGCAGGATCAGCCAGGTTGGCACAGGAGGCTGACGCAGGTCAGGAAGGGACCTGTGGAGGGGAGGCTGTGGCTGGCCAGGGACACTCCAGCAGCGTGGTGGCTCCTGGGCTGGAAAGAGAGGCAAGCCTGGTGGGGCCCCAGAAGGGAGTGTTCACCGGCCACACTGACCTGGGGCTGCCTGCAGGGAACGTGGTGAACGGCATGATCGCCCGGCAGATGGTGGACATGCTCGTGGAATCCTCATCCAATGTGGAGATGATCCTCAAGTTCTTCGACATGTTCCTGAAACTCAAGGACATTGTGGGCTCTGAAGCCTTCCAGGACTACGTAACGGATCCCCGTGGCCTCATCTCCAAGAAGGACTTCCAGAAGGTGGGTGTGGGACATCGTGTGGGCCCAGGACTTGGGTGGGGTTGCCAAGGGCCAGCCATACCCTTCTGGCTGGCTGCCTCAGGCAAGAGACATCTCTGCAAGCCTCACTTTCCTTGTTTGTAAAATGAGGATAAAACAGTCCTTGGGTTATATGTATTCTGTTTTATTTCATTTTAGAGACAAGGTCTTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGTTGGGACGACGGGTGTGTGACATCATGCCTGGCTAATTTTTAAGTTTATTTTTTGTAGAGATGTGGTCTCACTACATTACCCAGGCTCCTCTTGAACTCTTGGGCTCCAACAATTCTCCTACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCTCGCTCAGCCCCCTTGGGTTATTTTGAGGATGAAATGCATTAACACAGATGAGAACCGTTATTACTGTTATCTTTATTGATAGTCATAACATTATCATTATTGTGAATAGGCATCAGTTATTCCATCAATAAACATTGGCTGGCTTTCTTCTCTGTGTAGGGCCTGTAGTGACACTATTGACGCATCAATGACCAAGATAGACACAGCCCGTGCTTTCATGGGTTTATAGTCTAATGGGGGAGGCAGTCACTAACTAGACCATTCCAAGTCTAAATAATGAGCCTGCTAGGAGGGAAGTGCTGGAACATCCTTATTCAGAAACCCACTCCTCCTCCTCTAACCACCTCTCCCATCCTAACTCTCCATCTTTTCTTCTGAGCCTCAGTTTCCTACTCTGTAAAATGGGGATAGGATAATCACATTAACCACTAACTATTGGCAGTGTGCGGTGGTTCATGCCTATAATCCCAGCAATTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAAGAGTTCGAGATCAGCCTGGGCAACCTAGTGAAACCCTGTATCTATAAAAATAAAAATAAAACAACTATTAACTATTGTGAGGATGGGCAGTGCGGGCAGTACCTGGAATATGGTGAGTCCTCAAGAGATGTTAGCTGCTATTACTACTCCCTGATCTTTAATGTTACCATTTTGTTAACTTTTTATTTTGAAATAACTTCAGGTTTATAGAGACGTTGCAAGAACAGCACATAGAATTTCTGAATACCTTTCACCCACATTGCCCAAATGTTTTCTATTTACTATTTACTCCATCATGATTTCCCTTTCCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCAGTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCATGCCCAGCTAAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAACCACCTCGCCTAGCCAATTTCCCTTTACTTTGAAACACTTCAGCGTGTATCTCCTGAGAACAAATTCATTCTCCTACCTAAGCACAGGACAATTATGCTAATCAGGAAATTAACATTGGCACAATGCTGCTATCTAATCCTAGACCTTATTCAGTTTCCCTTGTTGAATAAATTTCTTTCGTCAATGTCTTTTCTTTGCCAACCCAGAACCAGGGATTGTATTTAGGTGTTCTGTCTGTTTTCCTCCTTCAGTCTGG
|
TGCCAGCCTTCCCACTACCCATCACCTATCGAGCCCGTCCCCCAAGTGCCAACCCCACCCCCACAATCTTGTCTCTCTGCCCCTTCCCCTGCTTCCGAGGAACATGTCTGGACTCGGGTCCCCTCGGAGGTAAGAGGGGAGAAAACGGGTTTAGGCCCTGCTGGGTAGGTGAGGAGGGGGAGAAGCAACAGAGGTGGGGGAGGTGTATGCTGAGACCAGCCCTCACCGAGCTGGGATCTCTAGGACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAGGACATGGTGGTGATGTTGCTGTCGCTACTAGAAGGTAAACACCCAGGAGTGAGGGTGAGGGAACAGTAAAGAGGTTCAGAGAAGCCTGAGAATGGCCCCCTGAGACCCGGGAGACCCTAATCCTCAACCCCATCTGACATCGTGTCAGGATCCATGGGTTGATGAAGAAGCCATAATAGGCCAGATGCGGTGGCTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCTAGTGTGGTGGTGTGTGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACCAGAGCCCGGGAGGTCCAGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAACAAACCCCAAAAACAAACCAAATGTCCAAATGTGGCAAAAGATAAACAATTGATGAATGTGGATATATTAGGATCCCTTTTTTTTTTTTTTCTTTTCTGAGACGGAGTCTCGCTCTGCCGCTCAGGCTGGAGGTGCGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCTTGGCCTCCCCGGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGATGGTCTGGATCTCCTGACTTCGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACTGCGCCCAGCCTACATTAAAATTTAAAAATTACAAAAATAAACTGGAGCCAAGCTTCAGCTGCTGCCTTTAGAGGGAGTGTGGGATCGCAGTTTGCCAATCTCTACCTCTCCTTGCTGCTTACCACTGGCTAGCCTCAGTCTTCTGTGGACCCTCCTGACTGTGTGTACTGGTGGAAGTTTTAGTTGTGTAAGCCCTGAGGTCATGCAGCTCTGAGTTCAAATCCATTCTCCCCACTTTACTGGCTATGTAACTTTGAGTGCATGACTTTCTCTATGTCTCAGTTTCTCTTCCTAAAAGTAGAGTCACACACTTCCCTTTTTGTGTGATTGTGCCAGGGTAGCATTTGGCACCTACCTTTAGCGTACATCATCATTATCTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCATCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGAAATACAAGCACATGCCACCACGCCCAGCTGATTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGTCCGACCTGACATCATTAGCTTTACTGGGGGAGGTGGGCAAAGGCAGGATCAGCCAGGTTGGCACAGGAGGCTGACGCAGGTCAGGAAGGGACCTGTGGAGGGGAGGCTGTGGCTGGCCAGGGACACTCCAGCAGCGTGGTGGCTCCTGGGCTGGAAAGAGAGGCAAGCCTGGTGGGGCCCCAGAAGGGAGTGTTCACCGGCCACACTGACCTGGGGCTGCCTGCAGGGAACGTGGTGAACGGCATTGATCGCCCGGCAGATGGTGGACATGCTCGTGGAATCCTCATCCAATGTGGAGATGATCCTCAAGTTCTTCGACATGTTCCTGAAACTCAAGGACATTGTGGGCTCTGAAGCCTTCCAGGACTACGTAACGGATCCCCGTGGCCTCATCTCCAAGAAGGACTTCCAGAAGGTGGGTGTGGGACATCGTGTGGGCCCAGGACTTGGGTGGGGTTGCCAAGGGCCAGCCATACCCTTCTGGCTGGCTGCCTCAGGCAAGAGACATCTCTGCAAGCCTCACTTTCCTTGTTTGTAAAATGAGGATAAAACAGTCCTTGGGTTATATGTATTCTGTTTTATTTCATTTTAGAGACAAGGTCTTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGTTGGGACGACGGGTGTGTGACATCATGCCTGGCTAATTTTTAAGTTTATTTTTTGTAGAGATGTGGTCTCACTACATTACCCAGGCTCCTCTTGAACTCTTGGGCTCCAACAATTCTCCTACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCTCGCTCAGCCCCCTTGGGTTATTTTGAGGATGAAATGCATTAACACAGATGAGAACCGTTATTACTGTTATCTTTATTGATAGTCATAACATTATCATTATTGTGAATAGGCATCAGTTATTCCATCAATAAACATTGGCTGGCTTTCTTCTCTGTGTAGGGCCTGTAGTGACACTATTGACGCATCAATGACCAAGATAGACACAGCCCGTGCTTTCATGGGTTTATAGTCTAATGGGGGAGGCAGTCACTAACTAGACCATTCCAAGTCTAAATAATGAGCCTGCTAGGAGGGAAGTGCTGGAACATCCTTATTCAGAAACCCACTCCTCCTCCTCTAACCACCTCTCCCATCCTAACTCTCCATCTTTTCTTCTGAGCCTCAGTTTCCTACTCTGTAAAATGGGGATAGGATAATCACATTAACCACTAACTATTGGCAGTGTGCGGTGGTTCATGCCTATAATCCCAGCAATTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAAGAGTTCGAGATCAGCCTGGGCAACCTAGTGAAACCCTGTATCTATAAAAATAAAAATAAAACAACTATTAACTATTGTGAGGATGGGCAGTGCGGGCAGTACCTGGAATATGGTGAGTCCTCAAGAGATGTTAGCTGCTATTACTACTCCCTGATCTTTAATGTTACCATTTTGTTAACTTTTTATTTTGAAATAACTTCAGGTTTATAGAGACGTTGCAAGAACAGCACATAGAATTTCTGAATACCTTTCACCCACATTGCCCAAATGTTTTCTATTTACTATTTACTCCATCATGATTTCCCTTTCCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCAGTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCATGCCCAGCTAAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAACCACCTCGCCTAGCCAATTTCCCTTTACTTTGAAACACTTCAGCGTGTATCTCCTGAGAACAAATTCATTCTCCTACCTAAGCACAGGACAATTATGCTAATCAGGAAATTAACATTGGCACAATGCTGCTATCTAATCCTAGACCTTATTCAGTTTCCCTTGTTGAATAAATTTCTTTCGTCAATGTCTTTTCTTTGCCAACCCAGAACCAGGGATTGTATTTAGGTGTTCTGTCTGTTTTCCTCCTTCAGTCTG
|
pathogenic
| 304,205 |
The mutation impacting RYR1 (ryanodine receptor 1) on chromosome 19 at position 38565311: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1']
|
CTACGGTGTTGTTGTTGTTTGAGACAGAGTTTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCCATTCTGGAGCCAGCTCTCTGGGGGTTCGAATCCTATATGTGCCACCTTGTCTGTGTCACCTGGGCATGTAACTTTCTGGGCCTCCCTGTCCTCATCTATAAAATGGGAAGAAAACCCGCTAGCCCTAGGCTTGTTTGTGAGGATTAAATGAGTTTTATGGAAACTGCTTGTATGGGGCCTGGCCTTATTGAAGCATTTACAGGAGTACCCACAGTGAGTGCTCTCTATAAAGCTCTCTCTATAGGTTTGCTATTGATAATCAAAACAACAACTTGGCCAGGCGCTGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGAGGATTGCTCGAGGCCAGGAGTTCGACACCAGCCTGACCAACACAGACAGACCCTGTCTCTGCAAAAAAATTTTTTTTAGAAATTAGCAGGCCAGTCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCCAGATCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATTCAAAAACTCAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCATGGGGATCATGTGAACCCTGGGGACGAAGGTTACAGTGAGACAGCGTCACTTCATTCCAGCCTAGGAGACAGAGCTAGATCTTGTCTTTTTTTTTTTTTTTCTTGAGACAGACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCATGGCAACCTCCGCCTCCCGGGTTCAAGTTATTCTCCTACCTCAGCCTCCCGAGTAACGGATTACAGGGGTGCGCCACCACACCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAAGTGATCTGCCAGCCTCAGTTTCCCAAAGTGCTATGATTACAGGCGGAGCCACCGCGCCCAGCCTGACCCTGTCTCAAAAACAAAATACCAACAATGCATTTAGAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTGACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTTTTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAA
|
CTACGGTGTTGTTGTTGTTTGAGACAGAGTTTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCCATTCTGGAGCCAGCTCTCTGGGGGTTCGAATCCTATATGTGCCACCTTGTCTGTGTCACCTGGGCATGTAACTTTCTGGGCCTCCCTGTCCTCATCTATAAAATGGGAAGAAAACCCGCTAGCCCTAGGCTTGTTTGTGAGGATTAAATGAGTTTTATGGAAACTGCTTGTATGGGGCCTGGCCTTATTGAAGCATTTACAGGAGTACCCACAGTGAGTGCTCTCTATAAAGCTCTCTCTATAGGTTTGCTATTGATAATCAAAACAACAACTTGGCCAGGCGCTGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGAGGATTGCTCGAGGCCAGGAGTTCGACACCAGCCTGACCAACACAGACAGACCCTGTCTCTGCAAAAAAATTTTTTTTAGAAATTAGCAGGCCAGTCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCCAGATCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATTCAAAAACTCAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCATGGGGATCATGTGAACCCTGGGGACGAAGGTTACAGTGAGACAGCGTCACTTCATTCCAGCCTAGGAGACAGAGCTAGATCTTGTCTTTTTTTTTTTTTTTCTTGAGACAGACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCATGGCAACCTCCGCCTCCCGGGTTCAAGTTATTCTCCTACCTCAGCCTCCCGAGTAACGGATTACAGGGGTGCGCCACCACACCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAAGTGATCTGCCAGCCTCAGTTTCCCAAAGTGCTATGATTACAGGCGGAGCCACCGCGCCCAGCCTGACCCTGTCTCAAAAACAAAATACCAACAATGCATTTAGAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTGACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTTTTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAN
|
pathogenic
| 304,257 |
Considering the genetic mutation at chromosome 19, position 38565341, impacting RYR1 (ryanodine receptor 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Central_core_myopathy', 'Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber', 'RYR1-related_disorder', 'RYR1-related_myopathy']
|
TTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCCATTCTGGAGCCAGCTCTCTGGGGGTTCGAATCCTATATGTGCCACCTTGTCTGTGTCACCTGGGCATGTAACTTTCTGGGCCTCCCTGTCCTCATCTATAAAATGGGAAGAAAACCCGCTAGCCCTAGGCTTGTTTGTGAGGATTAAATGAGTTTTATGGAAACTGCTTGTATGGGGCCTGGCCTTATTGAAGCATTTACAGGAGTACCCACAGTGAGTGCTCTCTATAAAGCTCTCTCTATAGGTTTGCTATTGATAATCAAAACAACAACTTGGCCAGGCGCTGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGAGGATTGCTCGAGGCCAGGAGTTCGACACCAGCCTGACCAACACAGACAGACCCTGTCTCTGCAAAAAAATTTTTTTTAGAAATTAGCAGGCCAGTCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCCAGATCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATTCAAAAACTCAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCATGGGGATCATGTGAACCCTGGGGACGAAGGTTACAGTGAGACAGCGTCACTTCATTCCAGCCTAGGAGACAGAGCTAGATCTTGTCTTTTTTTTTTTTTTTCTTGAGACAGACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCATGGCAACCTCCGCCTCCCGGGTTCAAGTTATTCTCCTACCTCAGCCTCCCGAGTAACGGATTACAGGGGTGCGCCACCACACCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAAGTGATCTGCCAGCCTCAGTTTCCCAAAGTGCTATGATTACAGGCGGAGCCACCGCGCCCAGCCTGACCCTGTCTCAAAAACAAAATACCAACAATGCATTTAGAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTGACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTTTTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAACTCCCATCTAACTGCCAGGCCTT
|
TTCGCTCTTGTTGACCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCCATTCTGGAGCCAGCTCTCTGGGGGTTCGAATCCTATATGTGCCACCTTGTCTGTGTCACCTGGGCATGTAACTTTCTGGGCCTCCCTGTCCTCATCTATAAAATGGGAAGAAAACCCGCTAGCCCTAGGCTTGTTTGTGAGGATTAAATGAGTTTTATGGAAACTGCTTGTATGGGGCCTGGCCTTATTGAAGCATTTACAGGAGTACCCACAGTGAGTGCTCTCTATAAAGCTCTCTCTATAGGTTTGCTATTGATAATCAAAACAACAACTTGGCCAGGCGCTGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGAGGATTGCTCGAGGCCAGGAGTTCGACACCAGCCTGACCAACACAGACAGACCCTGTCTCTGCAAAAAAATTTTTTTTAGAAATTAGCAGGCCAGTCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCCAGATCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATTCAAAAACTCAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCATGGGGATCATGTGAACCCTGGGGACGAAGGTTACAGTGAGACAGCGTCACTTCATTCCAGCCTAGGAGACAGAGCTAGATCTTGTCTTTTTTTTTTTTTTTCTTGAGACAGACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCATGGCAACCTCCGCCTCCCGGGTTCAAGTTATTCTCCTACCTCAGCCTCCCGAGTAACGGATTACAGGGGTGCGCCACCACACCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAAGTGATCTGCCAGCCTCAGTTTCCCAAAGTGCTATGATTACAGGCGGAGCCACCGCGCCCAGCCTGACCCTGTCTCAAAAACAAAATACCAACAATGCATTTAGAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTTTTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAACTCCCATCTAACTGCCAGGCCTTNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 304,260 |
Evaluate this variant at chromosome 19, position 38565368, gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder']
|
CAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCCATTCTGGAGCCAGCTCTCTGGGGGTTCGAATCCTATATGTGCCACCTTGTCTGTGTCACCTGGGCATGTAACTTTCTGGGCCTCCCTGTCCTCATCTATAAAATGGGAAGAAAACCCGCTAGCCCTAGGCTTGTTTGTGAGGATTAAATGAGTTTTATGGAAACTGCTTGTATGGGGCCTGGCCTTATTGAAGCATTTACAGGAGTACCCACAGTGAGTGCTCTCTATAAAGCTCTCTCTATAGGTTTGCTATTGATAATCAAAACAACAACTTGGCCAGGCGCTGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGAGGATTGCTCGAGGCCAGGAGTTCGACACCAGCCTGACCAACACAGACAGACCCTGTCTCTGCAAAAAAATTTTTTTTAGAAATTAGCAGGCCAGTCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCCAGATCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATTCAAAAACTCAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCATGGGGATCATGTGAACCCTGGGGACGAAGGTTACAGTGAGACAGCGTCACTTCATTCCAGCCTAGGAGACAGAGCTAGATCTTGTCTTTTTTTTTTTTTTTCTTGAGACAGACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCATGGCAACCTCCGCCTCCCGGGTTCAAGTTATTCTCCTACCTCAGCCTCCCGAGTAACGGATTACAGGGGTGCGCCACCACACCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAAGTGATCTGCCAGCCTCAGTTTCCCAAAGTGCTATGATTACAGGCGGAGCCACCGCGCCCAGCCTGACCCTGTCTCAAAAACAAAATACCAACAATGCATTTAGAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTGACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTTTTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAACTCCCATCTAACTGCCAGGCCTTCGCATGTGCTTTCCCGCTGCCTGGAAC
|
CAATGGCACGATCTCAGCTCACTCAACCTCCACCTCCTGGGTTCAAGCGGTTTTCCTGTCTCAGCCTCCTGAGTAGCTGAGATTACAGCCATGTGCAACCATGCCCACCTAATTTTTATATTTTCAGTAGAGGCGGGGTTTTGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCCATTCTGGAGCCAGCTCTCTGGGGGTTCGAATCCTATATGTGCCACCTTGTCTGTGTCACCTGGGCATGTAACTTTCTGGGCCTCCCTGTCCTCATCTATAAAATGGGAAGAAAACCCGCTAGCCCTAGGCTTGTTTGTGAGGATTAAATGAGTTTTATGGAAACTGCTTGTATGGGGCCTGGCCTTATTGAAGCATTTACAGGAGTACCCACAGTGAGTGCTCTCTATAAAGCTCTCTCTATAGGTTTGCTATTGATAATCAAAACAACAACTTGGCCAGGCGCTGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGAGGATTGCTCGAGGCCAGGAGTTCGACACCAGCCTGACCAACACAGACAGACCCTGTCTCTGCAAAAAAATTTTTTTTAGAAATTAGCAGGCCAGTCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCCAGATCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATTCAAAAACTCAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCATGGGGATCATGTGAACCCTGGGGACGAAGGTTACAGTGAGACAGCGTCACTTCATTCCAGCCTAGGAGACAGAGCTAGATCTTGTCTTTTTTTTTTTTTTTCTTGAGACAGACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCATGGCAACCTCCGCCTCCCGGGTTCAAGTTATTCTCCTACCTCAGCCTCCCGAGTAACGGATTACAGGGGTGCGCCACCACACCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAAGTGATCTGCCAGCCTCAGTTTCCCAAAGTGCTATGATTACAGGCGGAGCCACCGCGCCCAGCCTGACCCTGTCTCAAAAACAAAATACCAACAATGCATTTAGAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTGACGCGCGCTGGGGCCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTTTTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAACTCCCATCTAACTGCCAGGCCTTCGCATGTGCTTTCCCGCTGCCTGGAACNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 304,261 |
Mutation found at chromosome 19 position 38565551, gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia']
|
GATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCCATTCTGGAGCCAGCTCTCTGGGGGTTCGAATCCTATATGTGCCACCTTGTCTGTGTCACCTGGGCATGTAACTTTCTGGGCCTCCCTGTCCTCATCTATAAAATGGGAAGAAAACCCGCTAGCCCTAGGCTTGTTTGTGAGGATTAAATGAGTTTTATGGAAACTGCTTGTATGGGGCCTGGCCTTATTGAAGCATTTACAGGAGTACCCACAGTGAGTGCTCTCTATAAAGCTCTCTCTATAGGTTTGCTATTGATAATCAAAACAACAACTTGGCCAGGCGCTGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGAGGATTGCTCGAGGCCAGGAGTTCGACACCAGCCTGACCAACACAGACAGACCCTGTCTCTGCAAAAAAATTTTTTTTAGAAATTAGCAGGCCAGTCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCCAGATCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATTCAAAAACTCAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCATGGGGATCATGTGAACCCTGGGGACGAAGGTTACAGTGAGACAGCGTCACTTCATTCCAGCCTAGGAGACAGAGCTAGATCTTGTCTTTTTTTTTTTTTTTCTTGAGACAGACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCATGGCAACCTCCGCCTCCCGGGTTCAAGTTATTCTCCTACCTCAGCCTCCCGAGTAACGGATTACAGGGGTGCGCCACCACACCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAAGTGATCTGCCAGCCTCAGTTTCCCAAAGTGCTATGATTACAGGCGGAGCCACCGCGCCCAGCCTGACCCTGTCTCAAAAACAAAATACCAACAATGCATTTAGAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTGACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTTTTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAACTCCCATCTAACTGCCAGGCCTTCGCATGTGCTTTCCCGCTGCCTGGAACACAGGCCCCCATGCCTACTCTGAGTCTTTCTCATCCTTTCCAATTCTCCAGGACACCTGACCCCCTCCTAAGTTGAGGAGGTGTCTCCTCCAGATTCCCACAACCCCCTGAGCTTCCTCCATCCCAGCCCCGACCACTCTGGGCTGTCACTGCCTGGTGTCACTGTCACTGCCTGTCTCCCAC
|
GATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGCGCCACCGTGGCCTGCCCACTATACAGCATTTATCAGGCACCGGGCGCTGTTCTAATCATGCAGCATCTATTAACTCATTTAACCCTCACACCAACCCTATAATGTAGGTCCTATTATGCCCATTTTACAGAGGGGAAAACGGAGGTCCAGAGAGTTAATTCAAAATCACCCAGCTACTCAGTGGCAGAATCAGGATTTGAACCCAGGCAGGCTGGCTGCAGAGCCTTTGCCTTTAAGCACTATGCTCCTCCTCTCAAGGAAGCTAAACACATCCATTCTGGAGCCAGCTCTCTGGGGGTTCGAATCCTATATGTGCCACCTTGTCTGTGTCACCTGGGCATGTAACTTTCTGGGCCTCCCTGTCCTCATCTATAAAATGGGAAGAAAACCCGCTAGCCCTAGGCTTGTTTGTGAGGATTAAATGAGTTTTATGGAAACTGCTTGTATGGGGCCTGGCCTTATTGAAGCATTTACAGGAGTACCCACAGTGAGTGCTCTCTATAAAGCTCTCTCTATAGGTTTGCTATTGATAATCAAAACAACAACTTGGCCAGGCGCTGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGAGGATTGCTCGAGGCCAGGAGTTCGACACCAGCCTGACCAACACAGACAGACCCTGTCTCTGCAAAAAAATTTTTTTTAGAAATTAGCAGGCCAGTCATGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCCAGATCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTGAAAATTCAAAAACTCAGCCCAGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCATGGGGATCATGTGAACCCTGGGGACGAAGGTTACAGTGAGACAGCGTCACTTCATTCCAGCCTAGGAGACAGAGCTAGATCTTGTCTTTTTTTTTTTTTTTCTTGAGACAGACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCATGGCAACCTCCGCCTCCCGGGTTCAAGTTATTCTCCTACCTCAGCCTCCCGAGTAACGGATTACAGGGGTGCGCCACCACACCGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAAGTGATCTGCCAGCCTCAGTTTCCCAAAGTGCTATGATTACAGGCGGAGCCACCGCGCCCAGCCTGACCCTGTCTCAAAAACAAAATACCAACAATGCATTTAGAACAGCGCCTGCCGCGGTGACCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTGCGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTGACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTTTTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAACTCCCATCTAACTGCCAGGCCTTCGCATGTGCTTTCCCGCTGCCTGGAACACAGGCCCCCATGCCTACTCTGAGTCTTTCTCATCCTTTCCAATTCTCCAGGACACCTGACCCCCTCCTAAGTTGAGGAGGTGTCTCCTCCAGATTCCCACAACCCCCTGAGCTTCCTCCATCCCAGCCCCGACCACTCTGGGCTGTCACTGCCTGGTGTCACTGTCACTGCCTGTCTCCCACN
|
pathogenic
| 304,265 |
The mutation in gene RYR1 (ryanodine receptor 1) at chromosome 19, position 38567865—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['RYR1-related_disorder']
|
TGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAACTCCCATCTAACTGCCAGGCCTTCGCATGTGCTTTCCCGCTGCCTGGAACACAGGCCCCCATGCCTACTCTGAGTCTTTCTCATCCTTTCCAATTCTCCAGGACACCTGACCCCCTCCTAAGTTGAGGAGGTGTCTCCTCCAGATTCCCACAACCCCCTGAGCTTCCTCCATCCCAGCCCCGACCACTCTGGGCTGTCACTGCCTGGTGTCACTGTCACTGCCTGTCTCCCACATTGGACTGGAGCCCCATAAGGGCAAGTCCTGATTATCTCATCATCCCATGTACCCAGTACCATCCAAACCTGGGCCAGGCACAGGGCGGGCCCTTGGTGAATGGTTTTGAATGAATGAACTCATGCATTGCCTGCCCAGGCACCTCCTGACCTCTCTCTGTCCTGCCCTGCAGTGCCGAGAATGGGGAGAAGGAAGAAGTTCCCGAGCCCACACCAGAGCCCCCCAAGAAGCAAGCACCTCCCTCACCCCCTCCAAAGAAGGAGGAAGCTGGAGGCGAATTCTGGGGAGAACTGGAGGTGCAGAGGGTGAAGTTCCTGGTAAGGATCCAGCCAGGTCACCTGAACCTTCTTCTCCCCGGGAGCCCCACCTCTGGTGCCCACCTCTCCTGCTCACCTTGTTCTTGAGTTCATCTGTTCAAGCTCGTCTCTAAGAAGAACCCTAGCTGGGGAAAGGGCAGAGGTATCCCCAGACCTGCGGACAGGGTAGCATTTTCAGATGGCCCTCACTTGGTTCCTTGTCCCTTCCCTGCTCACTATCCTTATTCCAACCTCCATACCTCTGTTCATCGGGGCCACCCACCCACACTTCCACCTCCATCCTCTGTCCAGAGCTACATTCAGTGAGGCCACCACTCTGGCCTTCCCACCGTGGCCTGTTCTTGGCTGTCAGCCCTTACAGTCTCAGTCCCTCCACCACTCCCAGTGCTGCTGTGGAGGTCTGAGCTCTCCCAATTCCTGGGGAAGCGTTCATCTCATCCAGGCCAGGAAGAAGGGTGGGTGTTGGGAGGCAGGTCCCAGGGTTCCCTCCATCCTGTCTCCCCTCCAGGCCTGGCCCGATAGGAGGGGGTGAGGGAGGCTGGGCACGGTGGGTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCAGACTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAATTAGCCAGCCATAGTGGTGCATGCCTGCAATTCCAGCTACTCAGGATGCTGAGGCATGAGAATCGCTTGAACCCAAGAGGCAGAAGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGCCTCAAACAAAGTGGTGGTGGGGGGCGGGGGGGCGGTGAGGGAATCATGTGGAACGAAGGTGGTTCCGTCAGAATTTGTGGGAAGAATGAGGGATGGAGGGAAAGGTGGAGAGAAAGAGGGAGAGATGGAAGATGTTCCTGGCCGTGCGAGGGGGCTCATGCCTGTAAGTCCAGTACTTTGGAAGTCCAAGGTAGGAGGATCACTGGAGCCCAGGAGTTTGGGGCAAGCCAGGGCAACATAGGGAGATCCCTGTCTCTACAAAAGAATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGACTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCGCCGCCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAGAATGGCCTAGATCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCGAATATTTTTAATCTTTTTTTTTTTTTAATTACTGCTCCTTGCAGAGCAGGGCTACCCTCTAGGCAGTGCACCCAGAGTAGCCAAAAATGTTTTTTTAATTAGCTGGGTGAGGTGACACATGCCTGTGGTCCCAGCTGTTCAGGAGGCTGAGGCGGGAGGATCACTTAAGCACAGGAGGTTGAGGCAGCAGTGAGCTATGGTTGTGTCACTTCACTCCAACCTGGGTGAGAGTAAGACCTTGACTCAAAAAAAAAAAAAATTCCCTTTCATCTTCTGTAAAGCAGGCAGGGCGACAGGTGGGGTGACCTCACTCAGGAAGCAGCATGGCCAAGTGGCTTGGAGCTTGGACTCTGGAGGCTGACTGCCCGGGTTCAAATCCCATCTCTGCCACTCGTTGGTTATGTTACCTTGAGCAAGACACCACTTCCCTGAGCCTCAGTTTCCTCATCTGTAAAGTGCGCATAACAGTAGTGCCCACTTCACAGGGGTGTACTGAGAATTAAACAAGCTCATGCAAATAAAGTTCTTAGCCCAGATGTTGGTATAAGCAAGCACTCAACAAATAGGAGGTTGAGGCCAGCCGAGGTGGCTCACACCTATAATCC
|
TGGAGGGAGGAAGAGAGCCCGGCTGGGTGGAGACACACACAGAGGAGAGAACTGGCTAGGGGGATGGGCACACGCACCCACGGAGGACGCACCCATGGAGGACGCACACGGGGACAGCGGGCGCCGGGCAAGAGAGACGCTCAGAGACAGAGGGATACTCAGACCCACAGAGAAAGAGACTCAGAGATGGAGACCTGGAGAAAGGGCCGGGGAGAGAGAGTGCAGGGCCGGACAGAGTGCAGGGCCGGACAGAGTGCAGGGCCCGGAGAGGTAGAGAAAATGATACCTGCAGAGCCAGAGAGAGTAAGAAACCCAGAGACCAAATTAGAGGGCAGGAAAGACCAAAACTAAGCCAGGCGCGGTGGCTTACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCCGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCACCGTGGTGGAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAGACCAAGACTAAAAAAAGTCCCGAGACAGGGTCAGGGCCACTAGGAAAAGACCCTCGGAGATACTCGTTGTGGGAATGAAGTACACCGTGGAGGAAGGGACCCCAAACATCCTCAGGCCCTTGGTGCTGGGAATGCCTTGGGAATGTGGAGGTCAAGGTGGTGGGAAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCCTGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAACTCCCATCTAACTGCCAGGCCTTCGCATGTGCTTTCCCGCTGCCTGGAACACAGGCCCCCATGCCTACTCTGAGTCTTTCTCATCCTTTCCAATTCTCCAGGACACCTGACCCCCTCCTAAGTTGAGGAGGTGTCTCCTCCAGATTCCCACAACCCCCTGAGCTTCCTCCATCCCAGCCCCGACCACTCTGGGCTGTCACTGCCTGGTGTCACTGTCACTGCCTGTCTCCCACATTGGACTGGAGCCCCATAAGGGCAAGTCCTGATTATCTCATCATCCCATGTACCCAGTACCATCCAAACCTGGGCCAGGCACAGGGCGGGCCCTTGGTGAATGGTTTTGAATGAATGAACTCATGCATTGCCTGCCCAGGCACCTCCTGACCTCTCTCTGTCCTGCCCTGCAGTGCCGAGAATGGGGAGAAGGAAGAAGTTCCCGAGCCCACACCAGAGCCCCCCAAGAAGCAAGCACCTCCCTCACCCCCTCCAAAGAAGGAGGAAGCTGGAGGCGAATTCTGGGGAGAGCTGGAGGCGAATTCTGGGGAGAACTGGAGGTGCAGAGGGTGAAGTTCCTGGTAAGGATCCAGCCAGGTCACCTGAACCTTCTTCTCCCCGGGAGCCCCACCTCTGGTGCCCACCTCTCCTGCTCACCTTGTTCTTGAGTTCATCTGTTCAAGCTCGTCTCTAAGAAGAACCCTAGCTGGGGAAAGGGCAGAGGTATCCCCAGACCTGCGGACAGGGTAGCATTTTCAGATGGCCCTCACTTGGTTCCTTGTCCCTTCCCTGCTCACTATCCTTATTCCAACCTCCATACCTCTGTTCATCGGGGCCACCCACCCACACTTCCACCTCCATCCTCTGTCCAGAGCTACATTCAGTGAGGCCACCACTCTGGCCTTCCCACCGTGGCCTGTTCTTGGCTGTCAGCCCTTACAGTCTCAGTCCCTCCACCACTCCCAGTGCTGCTGTGGAGGTCTGAGCTCTCCCAATTCCTGGGGAAGCGTTCATCTCATCCAGGCCAGGAAGAAGGGTGGGTGTTGGGAGGCAGGTCCCAGGGTTCCCTCCATCCTGTCTCCCCTCCAGGCCTGGCCCGATAGGAGGGGGTGAGGGAGGCTGGGCACGGTGGGTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGCAGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCAGACTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAATTAGCCAGCCATAGTGGTGCATGCCTGCAATTCCAGCTACTCAGGATGCTGAGGCATGAGAATCGCTTGAACCCAAGAGGCAGAAGTTTCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGCCTCAAACAAAGTGGTGGTGGGGGGCGGGGGGGCGGTGAGGGAATCATGTGGAACGAAGGTGGTTCCGTCAGAATTTGTGGGAAGAATGAGGGATGGAGGGAAAGGTGGAGAGAAAGAGGGAGAGATGGAAGATGTTCCTGGCCGTGCGAGGGGGCTCATGCCTGTAAGTCCAGTACTTTGGAAGTCCAAGGTAGGAGGATCACTGGAGCCCAGGAGTTTGGGGCAAGCCAGGGCAACATAGGGAGATCCCTGTCTCTACAAAAGAATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGACTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCGCCGCCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAGAATGGCCTAGATCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCGAATATTTTTAATCTTTTTTTTTTTTTAATTACTGCTCCTTGCAGAGCAGGGCTACCCTCTAGGCAGTGCACCCAGAGTAGCCAAAAATGTTTTTTTAATTAGCTGGGTGAGGTGACACATGCCTGTGGTCCCAGCTGTTCAGGAGGCTGAGGCGGGAGGATCACTTAAGCACAGGAGGTTGAGGCAGCAGTGAGCTATGGTTGTGTCACTTCACTCCAACCTGGGTGAGAGTAAGACCTTGACTCAAAAAAAAAAAAAATTCCCTTTCATCTTCTGTAAAGCAGGCAGGGCGACAGGTGGGGTGACCTCACTCAGGAAGCAGCATGGCCAAGTGGCTTGGAGCTTGGACTCTGGAGGCTGACTGCCCGGGTTCAAATCCCATCTCTGCCACTCGTTGGTTATGTTACCTTGAGCAAGACACCACTTCCCTGAGCCTCAGTTTCCTCATCTGTAAAGTGCGCATAACAGTAGTGCCCACTTCACAGGGGTGTACTGAGAATTAAACAAGCTCATGCAAATAAAGTTCTTAGCCCAGATGTTGGTATAAGCAAGCACTCAACAAATAGGAGGTTGAGGCCAGCC
|
pathogenic
| 304,297 |
Regarding the variant at chromosome 19 and position 38575899, affecting gene RYR1 (ryanodine receptor 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
GGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAGGAAAAAAAAAAAAGAAAGAAAAGAAATCATTAGGGGCCCTAGGGGCCGCACTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCCCTTGTGCCCAGGAGTTCAAGACCAGCCTGGACAACATAGAGAGACCTATATCTTTAGAAAAAAAAAACTAAAAAGTTAGCCAGACATGCTAGCCTGGCTAGCGCATGCCTGTAGTCTTAGCTGTTTGGGAGGCTGAGGCTGGAGGATGGCGTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCTATGATTATGCCACTGTCCTTCAGCCTGAGTGACAGAGCAAGACCCTATGTCTGGGGGCCAAAAAAAAAACAAGTAGGAATTGGAAGTGCAATGAATCAAAGCACTTCAAATAATTGCAAATCCGTGAATTCATAATCAATCATCGCTCCACCCTCTCAAAAAACAAAACTCGTGGCTGGGCACAGTGGCTCACATCTGTAATCAATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGCAGTGGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCGAGGAGGCGGAGCTTGCAGTGAGCCCAGATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACTCGTTGGCCATATTTGAGGATGTTAGGGCATCAATTTGTCACTTGGAAAACTGGTGAATAAAGGGCCAGAATCATGAAATTAAATGAAATCAACCAGTATGAGGAAGCAGGCAGTTGCACTGGAGTTGGTGCTGAGTTAGGCTGCTGTTTTGGACTCCTCCCCACCCATCACCACGCCAGAGCCTCTTTATCAGAGTGCCATTCTGAGGTCTTTTTTGCACATCTGGCTCTGAATGCAAATTCTCTGCCTCATTTGGGGTCTAGCAAAGATGGCAGTGGGGTCCCCACTGTTCAAGGTTCCTACAAGAAAAGCAGTGGAGCCAGGCGCAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGGGGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGGGGCATCACCTGAGGTCAGAAGTTCAAGAACAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGTTTGCAGTGAGCAGATATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAGGAAAAAGAAAAACAGTGGAGTTTCAGCCAACCCTGTCGTGGCTGACAGCTCTGATCCCTCTGGCCCTAACATCTTATACTCACGCTTTCTCTCTCTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGGATGTAACACTTGAGCTCAGGAATTTCACAGCAGCCTGGGCAACATGGCAAAATGCCGTCTCTACCAAAAATACAAAAAATTAGCACGGTACCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGCACCACTGCACTACAGCCTGGGTGAAAGAGTGAGACCTCATCTCAAAAAAAATAATAATAACAAAAAATAAGAAAGCATAGCATAGTGCCTGGCACAGAGTGAATACTCAAGAAATACTGGTTGAGGCCAGGAGCAGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAAAACTGCATCTCTACTAAAAACACAAAAATTAGCTGGGCACCTGTAATCCCAGCTACTTGAGAGACTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAGAGAGAAATACTAGTTGAAAGAGAGGAAGTTAGCAATATGTCTTAAGCACACACACTCTGGAACCAGATTGCCTGCTTTTCTTTTGTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTACCCAGTCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTGGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCGATTGCCTGCCTTTCTATTTCTGGCTTATTGACCTTTCTGTACCTCATACTCAAAGTGGGGTAATAATACGGCCAACCCTACAGGGTTGTTGTATTATGTACTACATGAGCAGTATCTGGCATATAGGAGAACACTAGATATGTTGGCTGTTACTATAATTCGTTCACTCATATTTACGGAGCACCTATTATGTGCCAGGAACAGTTTTAGAAACCTGGGATCCCGTGTTAAACAAAACAGTGATTCTGACCTTCAAGTTGGAAAGATAGATGATGAACCCAAGTACAGTATGTCAGTGGTGATAAATGCTGTAGAAAAAAACAAAGTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACACAGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTGCAGTGAGCAGAGATGGCGCCACTGCCCTCCAGCCTGGGTGACAGAGGGAGACTGTCTCAAAAAAAAAAATGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCAGGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTACGG
|
GGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAGGAAAAAAAAAAAAGAAAGAAAAGAAATCATTAGGGGCCCTAGGGGCCGCACTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCCCTTGTGCCCAGGAGTTCAAGACCAGCCTGGACAACATAGAGAGACCTATATCTTTAGAAAAAAAAAACTAAAAAGTTAGCCAGACATGCTAGCCTGGCTAGCGCATGCCTGTAGTCTTAGCTGTTTGGGAGGCTGAGGCTGGAGGATGGCGTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCTATGATTATGCCACTGTCCTTCAGCCTGAGTGACAGAGCAAGACCCTATGTCTGGGGGCCAAAAAAAAAACAAGTAGGAATTGGAAGTGCAATGAATCAAAGCACTTCAAATAATTGCAAATCCGTGAATTCATAATCAATCATCGCTCCACCCTCTCAAAAAACAAAACTCGTGGCTGGGCACAGTGGCTCACATCTGTAATCAATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGCAGTGGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCGAGGAGGCGGAGCTTGCAGTGAGCCCAGATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACTCGTTGGCCATATTTGAGGATGTTAGGGCATCAATTTGTCACTTGGAAAACTGGTGAATAAAGGGCCAGAATCATGAAATTAAATGAAATCAACCAGTATGAGGAAGCAGGCAGTTGCACTGGAGTTGGTGCTGAGTTAGGCTGCTGTTTTGGACTCCTCCCCACCCATCACCACGCCAGAGCCTCTTTATCAGAGTGCCATTCTGAGGTCTTTTTTGCACATCTGGCTCTGAATGCAAATTCTCTGCCTCATTTGGGGTCTAGCAAAGATGGCAGTGGGGTCCCCACTGTTCAAGGTTCCTACAAGAAAAGCAGTGGAGCCAGGCGCAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGGGGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGGGGCATCACCTGAGGTCAGAAGTTCAAGAACAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGTTTGCAGTGAGCAGATATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAGGAAAAAGAAAAACAGTGGAGTTTCAGCCAACCCTGTCGTGGCTGACAGCTCTGATCCCTCTGGCCCTAACATCTTATACTCACGCTTTCTCTCTCTCTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGGATGTAACACTTGAGCTCAGGAATTTCACAGCAGCCTGGGCAACATGGCAAAATGCCGTCTCTACCAAAAATACAAAAAATTAGCACGGTACCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGCACCACTGCACTACAGCCTGGGTGAAAGAGTGAGACCTCATCTCAAAAAAAATAATAATAACAAAAAATAAGAAAGCATAGCATAGTGCCTGGCACAGAGTGAATACTCAAGAAATACTGGTTGAGGCCAGGAGCAGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAAAACTGCATCTCTACTAAAAACACAAAAATTAGCTGGGCACCTGTAATCCCAGCTACTTGAGAGACTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAGAGAGAAATACTAGTTGAAAGAGAGGAAGTTAGCAATATGTCTTAAGCACACACACTCTGGAACCAGATTGCCTGCTTTTCTTTTGTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTACCCAGTCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTGGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCGATTGCCTGCCTTTCTATTTCTGGCTTATTGACCTTTCTGTACCTCATACTCAAAGTGGGGTAATAATACGGCCAACCCTACAGGGTTGTTGTATTATGTACTACATGAGCAGTATCTGGCATATAGGAGAACACTAGATATGTTGGCTGTTACTATAATTCGTTCACTCATATTTACGGAGCACCTATTATGTGCCAGGAACAGTTTTAGAAACCTGGGATCCCGTGTTAAACAAAACAGTGATTCTGACCTTCAAGTTGGAAAGATAGATGATGAACCCAAGTACAGTATGTCAGTGGTGATAAATGCTGTAGAAAAAAACAAAGTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACACAGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTGCAGTGAGCAGAGATGGCGCCACTGCCCTCCAGCCTGGGTGACAGAGGGAGACTGTCTCAAAAAAAAAAATGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCAGGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTAC
|
benign
| 304,340 |
The mutation in gene RYR1 (ryanodine receptor 1) at chromosome 19, position 38575899—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAGGAAAAAAAAAAAAGAAAGAAAAGAAATCATTAGGGGCCCTAGGGGCCGCACTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCCCTTGTGCCCAGGAGTTCAAGACCAGCCTGGACAACATAGAGAGACCTATATCTTTAGAAAAAAAAAACTAAAAAGTTAGCCAGACATGCTAGCCTGGCTAGCGCATGCCTGTAGTCTTAGCTGTTTGGGAGGCTGAGGCTGGAGGATGGCGTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCTATGATTATGCCACTGTCCTTCAGCCTGAGTGACAGAGCAAGACCCTATGTCTGGGGGCCAAAAAAAAAACAAGTAGGAATTGGAAGTGCAATGAATCAAAGCACTTCAAATAATTGCAAATCCGTGAATTCATAATCAATCATCGCTCCACCCTCTCAAAAAACAAAACTCGTGGCTGGGCACAGTGGCTCACATCTGTAATCAATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGCAGTGGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCGAGGAGGCGGAGCTTGCAGTGAGCCCAGATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACTCGTTGGCCATATTTGAGGATGTTAGGGCATCAATTTGTCACTTGGAAAACTGGTGAATAAAGGGCCAGAATCATGAAATTAAATGAAATCAACCAGTATGAGGAAGCAGGCAGTTGCACTGGAGTTGGTGCTGAGTTAGGCTGCTGTTTTGGACTCCTCCCCACCCATCACCACGCCAGAGCCTCTTTATCAGAGTGCCATTCTGAGGTCTTTTTTGCACATCTGGCTCTGAATGCAAATTCTCTGCCTCATTTGGGGTCTAGCAAAGATGGCAGTGGGGTCCCCACTGTTCAAGGTTCCTACAAGAAAAGCAGTGGAGCCAGGCGCAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGGGGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGGGGCATCACCTGAGGTCAGAAGTTCAAGAACAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGTTTGCAGTGAGCAGATATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAGGAAAAAGAAAAACAGTGGAGTTTCAGCCAACCCTGTCGTGGCTGACAGCTCTGATCCCTCTGGCCCTAACATCTTATACTCACGCTTTCTCTCTCTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGGATGTAACACTTGAGCTCAGGAATTTCACAGCAGCCTGGGCAACATGGCAAAATGCCGTCTCTACCAAAAATACAAAAAATTAGCACGGTACCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGCACCACTGCACTACAGCCTGGGTGAAAGAGTGAGACCTCATCTCAAAAAAAATAATAATAACAAAAAATAAGAAAGCATAGCATAGTGCCTGGCACAGAGTGAATACTCAAGAAATACTGGTTGAGGCCAGGAGCAGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAAAACTGCATCTCTACTAAAAACACAAAAATTAGCTGGGCACCTGTAATCCCAGCTACTTGAGAGACTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAGAGAGAAATACTAGTTGAAAGAGAGGAAGTTAGCAATATGTCTTAAGCACACACACTCTGGAACCAGATTGCCTGCTTTTCTTTTGTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTACCCAGTCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTGGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCGATTGCCTGCCTTTCTATTTCTGGCTTATTGACCTTTCTGTACCTCATACTCAAAGTGGGGTAATAATACGGCCAACCCTACAGGGTTGTTGTATTATGTACTACATGAGCAGTATCTGGCATATAGGAGAACACTAGATATGTTGGCTGTTACTATAATTCGTTCACTCATATTTACGGAGCACCTATTATGTGCCAGGAACAGTTTTAGAAACCTGGGATCCCGTGTTAAACAAAACAGTGATTCTGACCTTCAAGTTGGAAAGATAGATGATGAACCCAAGTACAGTATGTCAGTGGTGATAAATGCTGTAGAAAAAAACAAAGTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACACAGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTGCAGTGAGCAGAGATGGCGCCACTGCCCTCCAGCCTGGGTGACAGAGGGAGACTGTCTCAAAAAAAAAAATGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCAGGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTACGG
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GGTTCCTGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAGGAAAAAAAAAAAAGAAAGAAAAGAAATCATTAGGGGCCCTAGGGGCCGCACTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCCCTTGTGCCCAGGAGTTCAAGACCAGCCTGGACAACATAGAGAGACCTATATCTTTAGAAAAAAAAAACTAAAAAGTTAGCCAGACATGCTAGCCTGGCTAGCGCATGCCTGTAGTCTTAGCTGTTTGGGAGGCTGAGGCTGGAGGATGGCGTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCTATGATTATGCCACTGTCCTTCAGCCTGAGTGACAGAGCAAGACCCTATGTCTGGGGGCCAAAAAAAAAACAAGTAGGAATTGGAAGTGCAATGAATCAAAGCACTTCAAATAATTGCAAATCCGTGAATTCATAATCAATCATCGCTCCACCCTCTCAAAAAACAAAACTCGTGGCTGGGCACAGTGGCTCACATCTGTAATCAATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGCAGTGGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCGAGGAGGCGGAGCTTGCAGTGAGCCCAGATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACTCGTTGGCCATATTTGAGGATGTTAGGGCATCAATTTGTCACTTGGAAAACTGGTGAATAAAGGGCCAGAATCATGAAATTAAATGAAATCAACCAGTATGAGGAAGCAGGCAGTTGCACTGGAGTTGGTGCTGAGTTAGGCTGCTGTTTTGGACTCCTCCCCACCCATCACCACGCCAGAGCCTCTTTATCAGAGTGCCATTCTGAGGTCTTTTTTGCACATCTGGCTCTGAATGCAAATTCTCTGCCTCATTTGGGGTCTAGCAAAGATGGCAGTGGGGTCCCCACTGTTCAAGGTTCCTACAAGAAAAGCAGTGGAGCCAGGCGCAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGGGGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGGGGCATCACCTGAGGTCAGAAGTTCAAGAACAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGTTTGCAGTGAGCAGATATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAGGAAAAAGAAAAACAGTGGAGTTTCAGCCAACCCTGTCGTGGCTGACAGCTCTGATCCCTCTGGCCCTAACATCTTATACTCACGCTTTCTCTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGGATGTAACACTTGAGCTCAGGAATTTCACAGCAGCCTGGGCAACATGGCAAAATGCCGTCTCTACCAAAAATACAAAAAATTAGCACGGTACCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGCACCACTGCACTACAGCCTGGGTGAAAGAGTGAGACCTCATCTCAAAAAAAATAATAATAACAAAAAATAAGAAAGCATAGCATAGTGCCTGGCACAGAGTGAATACTCAAGAAATACTGGTTGAGGCCAGGAGCAGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAAAACTGCATCTCTACTAAAAACACAAAAATTAGCTGGGCACCTGTAATCCCAGCTACTTGAGAGACTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAGAGAGAAATACTAGTTGAAAGAGAGGAAGTTAGCAATATGTCTTAAGCACACACACTCTGGAACCAGATTGCCTGCTTTTCTTTTGTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTACCCAGTCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTGGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCGATTGCCTGCCTTTCTATTTCTGGCTTATTGACCTTTCTGTACCTCATACTCAAAGTGGGGTAATAATACGGCCAACCCTACAGGGTTGTTGTATTATGTACTACATGAGCAGTATCTGGCATATAGGAGAACACTAGATATGTTGGCTGTTACTATAATTCGTTCACTCATATTTACGGAGCACCTATTATGTGCCAGGAACAGTTTTAGAAACCTGGGATCCCGTGTTAAACAAAACAGTGATTCTGACCTTCAAGTTGGAAAGATAGATGATGAACCCAAGTACAGTATGTCAGTGGTGATAAATGCTGTAGAAAAAAACAAAGTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACACAGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTGCAGTGAGCAGAGATGGCGCCACTGCCCTCCAGCCTGGGTGACAGAGGGAGACTGTCTCAAAAAAAAAAATGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCAGGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTACGGNNNN
|
benign
| 304,341 |
Considering the variant on chromosome 19, location 38575905, involving gene RYR1 (ryanodine receptor 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
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benign
|
TGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAGGAAAAAAAAAAAAGAAAGAAAAGAAATCATTAGGGGCCCTAGGGGCCGCACTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCCCTTGTGCCCAGGAGTTCAAGACCAGCCTGGACAACATAGAGAGACCTATATCTTTAGAAAAAAAAAACTAAAAAGTTAGCCAGACATGCTAGCCTGGCTAGCGCATGCCTGTAGTCTTAGCTGTTTGGGAGGCTGAGGCTGGAGGATGGCGTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCTATGATTATGCCACTGTCCTTCAGCCTGAGTGACAGAGCAAGACCCTATGTCTGGGGGCCAAAAAAAAAACAAGTAGGAATTGGAAGTGCAATGAATCAAAGCACTTCAAATAATTGCAAATCCGTGAATTCATAATCAATCATCGCTCCACCCTCTCAAAAAACAAAACTCGTGGCTGGGCACAGTGGCTCACATCTGTAATCAATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGCAGTGGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCGAGGAGGCGGAGCTTGCAGTGAGCCCAGATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACTCGTTGGCCATATTTGAGGATGTTAGGGCATCAATTTGTCACTTGGAAAACTGGTGAATAAAGGGCCAGAATCATGAAATTAAATGAAATCAACCAGTATGAGGAAGCAGGCAGTTGCACTGGAGTTGGTGCTGAGTTAGGCTGCTGTTTTGGACTCCTCCCCACCCATCACCACGCCAGAGCCTCTTTATCAGAGTGCCATTCTGAGGTCTTTTTTGCACATCTGGCTCTGAATGCAAATTCTCTGCCTCATTTGGGGTCTAGCAAAGATGGCAGTGGGGTCCCCACTGTTCAAGGTTCCTACAAGAAAAGCAGTGGAGCCAGGCGCAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGGGGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGGGGCATCACCTGAGGTCAGAAGTTCAAGAACAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGTTTGCAGTGAGCAGATATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAGGAAAAAGAAAAACAGTGGAGTTTCAGCCAACCCTGTCGTGGCTGACAGCTCTGATCCCTCTGGCCCTAACATCTTATACTCACGCTTTCTCTCTCTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGGATGTAACACTTGAGCTCAGGAATTTCACAGCAGCCTGGGCAACATGGCAAAATGCCGTCTCTACCAAAAATACAAAAAATTAGCACGGTACCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGCACCACTGCACTACAGCCTGGGTGAAAGAGTGAGACCTCATCTCAAAAAAAATAATAATAACAAAAAATAAGAAAGCATAGCATAGTGCCTGGCACAGAGTGAATACTCAAGAAATACTGGTTGAGGCCAGGAGCAGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAAAACTGCATCTCTACTAAAAACACAAAAATTAGCTGGGCACCTGTAATCCCAGCTACTTGAGAGACTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAGAGAGAAATACTAGTTGAAAGAGAGGAAGTTAGCAATATGTCTTAAGCACACACACTCTGGAACCAGATTGCCTGCTTTTCTTTTGTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTACCCAGTCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTGGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCGATTGCCTGCCTTTCTATTTCTGGCTTATTGACCTTTCTGTACCTCATACTCAAAGTGGGGTAATAATACGGCCAACCCTACAGGGTTGTTGTATTATGTACTACATGAGCAGTATCTGGCATATAGGAGAACACTAGATATGTTGGCTGTTACTATAATTCGTTCACTCATATTTACGGAGCACCTATTATGTGCCAGGAACAGTTTTAGAAACCTGGGATCCCGTGTTAAACAAAACAGTGATTCTGACCTTCAAGTTGGAAAGATAGATGATGAACCCAAGTACAGTATGTCAGTGGTGATAAATGCTGTAGAAAAAAACAAAGTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACACAGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTGCAGTGAGCAGAGATGGCGCCACTGCCCTCCAGCCTGGGTGACAGAGGGAGACTGTCTCAAAAAAAAAAATGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCAGGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTACGGGCGGGA
|
TGTTCAGTGACTCTGGGGTGTGAGCCCAGGAACCCGTGTTTTAAACCCTGTCTCCAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAGGAAAAAAAAAAAAGAAAGAAAAGAAATCATTAGGGGCCCTAGGGGCCGCACTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCCCTTGTGCCCAGGAGTTCAAGACCAGCCTGGACAACATAGAGAGACCTATATCTTTAGAAAAAAAAAACTAAAAAGTTAGCCAGACATGCTAGCCTGGCTAGCGCATGCCTGTAGTCTTAGCTGTTTGGGAGGCTGAGGCTGGAGGATGGCGTGAGCCCAGGAGTTCTAGGCTGCAGTGAGCTATGATTATGCCACTGTCCTTCAGCCTGAGTGACAGAGCAAGACCCTATGTCTGGGGGCCAAAAAAAAAACAAGTAGGAATTGGAAGTGCAATGAATCAAAGCACTTCAAATAATTGCAAATCCGTGAATTCATAATCAATCATCGCTCCACCCTCTCAAAAAACAAAACTCGTGGCTGGGCACAGTGGCTCACATCTGTAATCAATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGCAGTGGGTGCCTGTAGTCACAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCGAGGAGGCGGAGCTTGCAGTGAGCCCAGATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACTCGTTGGCCATATTTGAGGATGTTAGGGCATCAATTTGTCACTTGGAAAACTGGTGAATAAAGGGCCAGAATCATGAAATTAAATGAAATCAACCAGTATGAGGAAGCAGGCAGTTGCACTGGAGTTGGTGCTGAGTTAGGCTGCTGTTTTGGACTCCTCCCCACCCATCACCACGCCAGAGCCTCTTTATCAGAGTGCCATTCTGAGGTCTTTTTTGCACATCTGGCTCTGAATGCAAATTCTCTGCCTCATTTGGGGTCTAGCAAAGATGGCAGTGGGGTCCCCACTGTTCAAGGTTCCTACAAGAAAAGCAGTGGAGCCAGGCGCAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGGGGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGGGGCATCACCTGAGGTCAGAAGTTCAAGAACAGCCTGGCCAACATGGCAAAACCTCGTCTCTACTAAAAATACGAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGTTTGCAGTGAGCAGATATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAGGAAAAAGAAAAACAGTGGAGTTTCAGCCAACCCTGTCGTGGCTGACAGCTCTGATCCCTCTGGCCCTAACATCTTATACTCACGCTTTCTCTCCTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGGATGTAACACTTGAGCTCAGGAATTTCACAGCAGCCTGGGCAACATGGCAAAATGCCGTCTCTACCAAAAATACAAAAAATTAGCACGGTACCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGCACCACTGCACTACAGCCTGGGTGAAAGAGTGAGACCTCATCTCAAAAAAAATAATAATAACAAAAAATAAGAAAGCATAGCATAGTGCCTGGCACAGAGTGAATACTCAAGAAATACTGGTTGAGGCCAGGAGCAGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAAAACTGCATCTCTACTAAAAACACAAAAATTAGCTGGGCACCTGTAATCCCAGCTACTTGAGAGACTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAGAGAGAAATACTAGTTGAAAGAGAGGAAGTTAGCAATATGTCTTAAGCACACACACTCTGGAACCAGATTGCCTGCTTTTCTTTTGTTTTTTTCTTTGAGACGGAGTCTCGCTCTGTTACCCAGTCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTGGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGCGCCCAGCCGATTGCCTGCCTTTCTATTTCTGGCTTATTGACCTTTCTGTACCTCATACTCAAAGTGGGGTAATAATACGGCCAACCCTACAGGGTTGTTGTATTATGTACTACATGAGCAGTATCTGGCATATAGGAGAACACTAGATATGTTGGCTGTTACTATAATTCGTTCACTCATATTTACGGAGCACCTATTATGTGCCAGGAACAGTTTTAGAAACCTGGGATCCCGTGTTAAACAAAACAGTGATTCTGACCTTCAAGTTGGAAAGATAGATGATGAACCCAAGTACAGTATGTCAGTGGTGATAAATGCTGTAGAAAAAAACAAAGTGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACACAGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTGCAGTGAGCAGAGATGGCGCCACTGCCCTCCAGCCTGGGTGACAGAGGGAGACTGTCTCAAAAAAAAAAATGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCAGGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTACGGGCGGGAN
|
benign
| 304,342 |
Is chromosome 19, position 38580106, gene RYR1 (ryanodine receptor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Central_core_myopathy']
|
GGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACT
|
GGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCAC
|
pathogenic
| 304,366 |
Clinical significance of chromosome 19, position 38580126, gene RYR1 (ryanodine receptor 1): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
GGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCA
|
GGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGAATCCATCTCAACAACAACAACAACAAAAACACAAAAAATTAGCCAGGCAGACAGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCGGAGGCAGAGGTTTGCTTGAGCTCAAACGTTTAAGACCAGCTTGGGCAACTTTTGTAGAGACGGTGAAACCCTGTCTCTACAAACAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTCCCAGCCACTCAACAAGCTGCGGTGGGAGGATGGCTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCTGCATGTGCACCACTGCACTCCAGCGTGGATAACAGAGCGAGACCCTGTCTCTAACAAAAAACAGAGAGTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTAGAGACCAGCCTGGCCATCATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGACCCACGCCTGTGGTCCCAGCTACTTTGGAGGCTAAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAACACTGCACTCCAGCCTGGGCAACAGACTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTACCCACACCTGTGGTCTCAGCTACTTGGCAGGCTTAGCCTCCTTCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATAGCATTCCAGCCTGGGTGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGACAGAGGAAGAGATGATGGAGTCTCGCTATGTTGCCCAGACTGGTCTTCAACTCCTGACCTCAAGTGATGCTCCTGCCTCAGCCCCCCAAAGCACTGGGGATACAGGCATGAGCCACCACACCCGGCCCAGAACATCCTTTGGCTCCCTCAGTGTGCCCTTAGATTGCCAGATTATTTCCTTCTGGAGGGGGCTCTCATCTCCCCGCAGGATGCCTTCTCACCCGGAATGCCCTGATCCTCCATGTACTCCCCAAACAGAGCTGGCACCCGACCCCCAGGGCACAGCTGACTCTCGAGTGGCCCCTACCCTCCAGAGTGCTCCTCGTGTGTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGGGCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCCAGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTAATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGGAGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGACAGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCAGGCTAGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCATGCCACCACACCCAGATACTTTTTGTATTCTTAATTTTCTTTCTTTCTTTTTTTTTTGAGACAGAGTCTGGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACAACAGGCGCCCGCCACCACGCCTGGCAAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCAATTTTTGTATTCTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTGCCTGTGCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAN
|
benign
| 304,368 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 38583493, gene RYR1 (ryanodine receptor 1). What disease(s) is it linked to if pathogenic?
|
benign
|
GCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCATCATTATCCACAATTAAAAGTTTCACCCAGGCCGGGCGCAGTGACTCACGCCTGTAATCCCAACACTGTGGGAGGCTGAGGCAAGAGGATTGCTTGAGCTTAGGAGTTTGAGGTTGCAGTGTGCTATGACTGCGCCACTGCACTCCAGCCTGGGTAACACATTGAGACTCTGTGTCAAGTTTAAAAAAAAGTTTCACCCAAGGTATACCCAGCGTTCAATGCACATTTATATTTTCTCTTCTATTCTAATAATGGTGATCATAACCCAAATTGATGCGAACTTACTAGAGACACAGGCCACAATCCACAATTAAAAGAATCATTTCTGGGGTTTATCTCCAAAGATGTCCTGCAGTCTGGCTCCGTGGGTTCCTCCCTGCTCTCAGGACAAAGTCCAGCTCCTCAACCTGACATCTGAGGCTCTTCCAGACACGGCCTCGCTGCCCACAGCCTCGTTCTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATC
|
GCCGTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCACCTGGCCATGTCAGATACTTTGAACAGTGCCAGGCATATGAGTGCTCCACACCTCTTCGCCATTGTTTCAATATTATTTGAGCTGAGGTTTTTTGTTGTTGTTGTTCCTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGACATGACCTCAGCTTACTGCAACCTCTGTCTCTCAGGTTCAAGTGATTCTCCTGCGTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACTACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGAGGTGGGGGGGTCTCACAATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCAACTGCACCCGGCCTTATTTGAGCTTTTCAAACTATTATTATTGGAAAGGTACTCAGGGAGCGTGCCCCTGCCACTTATGAGCCGTGTGATTTTGGGGCAGGCTACTCAACCTCCTCCCTATGCCCTGGGGGCCTCACCTGTAAAATGAGTGTGTAATAGTAGTTGCTTTTAGGACTAATAGGTGCTCCCTGGCTATCGAAGACTTAAAAGACTTAGACCATTGCCTTGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGGGGGCAGATTACCTGAGGTTGGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATATCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCCATGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCAACGAGAGTGAAACTCCGTCTCAAAAAAAAGGAAAAAAAAAAAGACTTAGACTAGTGCCTGGCACATCCTCAGGATTATATAGATGTTAGCTTCTATCATCATTATCCACAATTAAAAGTTTCACCCAGGCCGGGCGCAGTGACTCACGCCTGTAATCCCAACACTGTGGGAGGCTGAGGCAAGAGGATTGCTTGAGCTTAGGAGTTTGAGGTTGCAGTGTGCTATGACTGCGCCACTGCACTCCAGCCTGGGTAACACATTGAGACTCTGTGTCAAGTTTAAAAAAAAGTTTCACCCAAGGTATACCCAGCGTTCAATGCACATTTATATTTTCTCTTCTATTCTAATAATGGTGATCATAACCCAAATTGATGCGAACTTACTAGAGACACAGGCCACAATCCACAATTAAAAGAATCATTTCTGGGGTTTATCTCCAAAGATGTCCTGCAGTCTGGCTCCGTGGGTTCCTCCCTGCTCTCAGGACAAAGTCCAGCTCCTCAACCTGACATCTGAGGCTCTTCCAGACACGGCCTCGCTGCCCACAGCCTCGTTCTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCNN
|
benign
| 304,382 |
Variant in RYR1 (ryanodine receptor 1), chromosome 19, position 38585055—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Central_core_myopathy', 'Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'Congenital_myopathy_with_fiber_type_disproportion', 'King_Denborough_syndrome', 'Malignant_hyperthermia,_susceptibility_to,_1', 'RYR1-related_disorder']
|
CAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACACAGCGAGACCCTTTCTCTA
|
CAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAAAAATTAGCTGGGTGGGGTGACACGCACCTGTATTCCCGACTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACTCGGTGGTGGAGGTCGCAGTGAGCCAATATTGCACCACAGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACATATGTAAAGTTGTTCCCAAATGCCAGGTAGACCATGCTCCCTCCCCACCCCCACTCAGACCCTTCTTGTGGCTCCCCAGCCCACTGTAGATAAAGTCGAATCACCCTGCCGTGGCTTACAAAGCCTGGGAAGGGCTGGCCCTGCCTGGGTCTAACCGCAAACCCTCTTGCTTTTTGCTTTCTAGCCGCCTGGTCCTCTTTCAGTTCCCCTAGGACTGTGTGTTTTCTCCCAATTCAAGCCCTTTGCACCTGATGTTCTCTCTGTCCCCTACCCCAGGCCTGACATACACACACACCCCATTCACTTGATACCTCACCTTTCCACTTAAATGCCACATCCTACAGGAAGCCCCTTGACCGCGGGCTGGGCCAGGGCCCACAGAGCCACATGCCCAGGCCCTGCCTCATCTCTCCCTGCTCTCCTGCACAGGAGCTCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACACAGCGAGACCCTTTCTCTANNN
|
pathogenic
| 304,398 |
Is chromosome 19, position 38586156, gene RYR1 (ryanodine receptor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['RYR1-related_disorder']
|
CCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACACAGCGAGACCCTTTCTCTATTAAAAAATTAGCCAGGGGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATATATATGTCTCAAGGGTTTGAAGATGTGACCAATGAACTCTTTCTATCCCCAATCCTAGGAGTCTTATGTCTGGAAGATGTACCAAGAGAGATGTTGGGATTTCTTCCCAGCTGGTGATTGTTTCCGTAAGCAGTATGAGGACCAGCTTAGCTGACACACCCCCAGCTGGCCCTCCACCCCCACCTCAAGTGCCTTATTCTCACAGCAAGCCCCTTAGTCCCCAAGCCCCTCCCCCTAAGGCAGCTGGGGGAGAGGTGACCTAGTACTGGAAAATAAATCTGTGCTACGCCCCCCAGCATCACTGTGTTGGCCTGCTGAAATTTTGGAGGAGTGGACATCCAGGAATTGTTTCCCCCAAGAAAAACAAGATGACAGCAGAGGCTAAAGTCATGTTTATTGGGAGATGAGGACATGCCATGACCACTAGTGTGTCTATGGGGGAGGGGGTGCAAGGACTAGTTCCTGACACCCCCCTAGGGACTCATTCCTGGATGTAGAGGTTGCTGGGAGCAGTAGGATCATCCACTGGGCGTGTCTCCACCACTACAGGCCTGTGGAAGGAAGAGATAAGTCAGTTCATTTATTCATTCATATGTTCATTGATTCATTAATTCACAAAGTAGTTAATAGAGACTGTGCCAGCCCCATGCTGAACTATAGCAGTGAATGGGCAGACACGGTCCCTGCCCTTAGGAAGCTTGCATTCTAGAGAAGGAGATCAACATGAATCAGTGAATTACATGAGTGCAAAAAAGCATGGCATGTCTGGCAGGGAAACCTAACCCAGGAGGTCAGCCCAGACTCCCCAGAGAATGGATGGTGCAGCCTGAAGGGGGGTTAGGAGGGAACTTGGTGAAAGGGCAAGGAAGAGTGTTCTGGCTGGGGAGAACAGCCTGTGCAAAGGATTTGAGGTGGGAGAAAGGCTGGGACTTGGCTG
|
CCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCACCCTTCTGCCTGTGCCCCCCTATCCTGGCCCTGATCCCTACACCTGTGCCCCCCCCCACCCATCCCGGCCCTCATCCCTCCGTCTGTGCCCCCCATCCATCCCGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCCCTGCCCGTGCTGTTCCTGTCACAGCCCTGACCATTTCTGGCTGTTGGTCCCTGTCTGATGCCGTATCTGTGAGCCCTTTGAGGGCAGGGCCCAGGGCTGTCTCAGTCGTTACCATGTCTTCAGCCCTGCCTATCCCGGGGCCTTGGCTGGTACTCAGTGAATGTCGAATGAATGAGTGACCAGTGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACCTTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCAGTGCTGGGAGTGGGCGCTCAGGGCCCGGAGGCAGGCTAGCTCCATGGCTAAGAATGCAGGCCCAGGATCCAGTCGGCCTGCATTCATACCCCATCTCTACCTCTCGCTACTGTGAGACCTTGGGCAAGTCACCTCTCGGGGCCTCCGTTTCTCCATCTGCAAAACGAGGGTGTCAATGGTACTAACCTCATAGGTTGTGATCAGGATTAAGTCAGTTCATAGGCGCTCGGTGTCTGGCTCATATGAGTGCTCAATAAAGGCCTGAGATATATATATATATATATGTTTATTTATATATATATGTGTTTATATATATTTATATATGTGTTTATATATATTTATATATATGTGTGTGTGTCTATATATATATATGTATAATTTTTTTTTTGAGAGGGAGTCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGCACATGCTACCACACCCAGCTAATTTTTTTTATTTTTTTATTGTTAGTAGTGAGGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTCACCTCAGATGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATAAAGGCCTAATACTATCTTCTTAGGAAGCGAGATTAGGGGTGAGATTAGGGAAATGGGGGATGGAGGGCAAGCCCTGGAGGTAGGTAGCTGGAGAGGGGGGAGTCTGAACCAGGTCAGAGGTCGGGCACTGACTTGTGTCCTGCCACCCCAGGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGGTAGGTCATGTCTGGGGGTGACCCAGAGGGATTACGGGATTCAGGGGGTCAAGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACGCTGGAGGAGCACAACCTGGCCAATTACATGTGAGCAGACACACTGGCCAGTCAGGAGGGTGGGGGGCATGGCTGCCAATAGCCAGCAGTGGGGTACTTAGCTTTGGCCAGTTAGGAAAGGGGGTGTAGTGTCCATGTGGGCAGATTCCCTGCCAGCCAATCAGAAGGTAAGGGTGGGGCCCCGCAAGATGGTTCACACCTGTAAGCCCAGCACTTTGGGAGGCCAAGTGGGGAGGATTACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATAGCAAGACTTCCTCTCTACTATAAATGAAAAATAAAATAAGGTAAGGGTGGTTCTGACTTGTCTCCTGTGGTCCTCTCACCCTCAGGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACACGGGTCAGGTAAGGGGGTGTTAATGGGAGGACAGTGGGCAGGACGTGGAGCCCTTTAACATAAGGCCAGTCAGTAGGTGGCAGTAAAAAGCTCCTATCAATATCAAGGGTTAGGGCTGGGGGCTGGGCACGGCGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAATTCAGTCTCTACTAAAAATGCAAAGATTAGCAGGGCGTGGTTGTGCATGCCTGTAATCCCAGCTACTTGGAAAGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTAGGTGACAGAGCGATACTCCATCTCAAAAAAAATGGGTTTGGGCTGGGCGTCCTGGCTCACGCCTGCAATCCTAGCACTTCGGGAGGCCACAGCGGGAGAATTGCTTGAGACCAGAAGTTCAAGACAGCCTAGGAACACAGCGAGACCCTTTCTCTATTAAAAAATTAGCCAGGGGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATATATATGTCTCAAGGGTTTGAAGATGTGACCAATGAACTCTTTCTATCCCCAATCCTAGGAGTCTTATGTCTGGAAGATGTACCAAGAGAGATGTTGGGATTTCTTCCCAGCTGGTGATTGTTTCCGTAAGCAGTATGAGGACCAGCTTAGCTGACACACCCCCAGCTGGCCCTCCACCCCCACCTCAAGTGCCTTATTCTCACAGCAAGCCCCTTAGTCCCCAAGCCCCTCCCCCTAAGGCAGCTGGGGGAGAGGTGACCTAGTACTGGAAAATAAATCTGTGCTACGCCCCCCAGCATCACTGTGTTGGCCTGCTGAAATTTTGGAGGAGTGGACATCCAGGAATTGTTTCCCCCAAGAAAAACAAGATGACAGCAGAGGCTAAAGTCATGTTTATTGGGAGATGAGGACATGCCATGACCACTAGTGTGTCTATGGGGGAGGGGGTGCAAGGACTAGTTCCTGACACCCCCCTAGGGACTCATTCCTGGATGTAGAGGTTGCTGGGAGCAGTAGGATCATCCACTGGGCGTGTCTCCACCACTACAGGCCTGTGGAAGGAAGAGATAAGTCAGTTCATTTATTCATTCATATGTTCATTGATTCATTAATTCACAAAGTAGTTAATAGAGACTGTGCCAGCCCCATGCTGAACTATAGCAGTGAATGGGCAGACACGGTCCCTGCCCTTAGGAAGCTTGCATTCTAGAGAAGGAGATCAACATGAATCAGTGAATTACATGAGTGCAAAAAAGCATGGCATGTCTGGCAGGGAAACCTAACCCAGGAGGTCAGCCCAGACTCCCCAGAGAATGGATGGTGCAGCCTGAAGGGGGGTTAGGAGGGAACTTGGTGAAAGGGCAAGGAAGAGTGTTCTGGCTGGGGAGAACAGCCTGTGCAAAGGATTTGAGGTGGGAGAAAGGCTGGGACTTGGCTGNN
|
pathogenic
| 304,415 |
A genetic variant at chromosome 19, position 38915624, affecting gene SARS2 (seryl-tRNA synthetase 2, mitochondrial)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
GGAGTTCAAGACCAGCCTGGTCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAAATTAGCCGGACATGGTGGCACCTCCCTGTAATCCCAGCTATGCGGGAGGCTGAGGCAAAAGAATCTCTCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTATCTCAGATGTAGGTACTGAGTGCTGGGGGGGTTTTACTGTGGTCACGGAAGACTTCTTGGAAGAGGTGACATTTGAGCTAAGGCCTGAGTGACAAGATGGAGGCCAGCACACACCATCTAGGGGAGAGACAGCCAGAGAGGGAGACTCACCAATGTAAGTGCACGAGTCAGGAAGGAGTTTGGAGAGTTTCAATGTCAAGGCGGGTCGGGTGGACCAAACAAGACAGAAAGATGGGCTGAAGAGGAAGGTGGAGCAGCTCAGGTGGGGTCTTAGGGGCCTCGATGACCACTTTACCCTTTTACTCTGAGACGAAGCCACAGGAGACCTCTGAGCAGGGGTGGGACACCCAGCTGAGGTGCTCACAGGTCCCTCTGGCTGTGTGGCGAGGATGGAGAACAGGGAGCCAGTGAAGAGGCTTCCAGGGTTAACCAAAGGGGAGGGATCGGGGAGCAGGGCCCAGGTGGGGTCAGGGAGGAGAGAACAGTAGGCAGAGTCTGGAAATCTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTAGTGTGATCCCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGAATTCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCGCCACCACACCCAGCTCTTTTTTTTTTTAGATGGAGTCTCGCACTGTAGCCCATGCTGGAGTGCAGTGGCGCGATCTCCACTCACCACAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGACCTCAGGTGATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCTGGCCAGATTCTGGAAATATTCTGAAGGCGGTGTTGCCAGGGTTGCTAATGAAGTGGAGTGGATATGAGATAAAAGTCGAGGCTAACCCGAAGGGCTGTGGCCTGGGCAGCCGGGAGAATGTGCTGGGATGGGCATGCCTGAGGAGGAGCAGGTGCAGGCCAAGTGATCAGAGGACCAGGTAGCTTCCCTGAGTTTGGGATGCCCACTGGGCCCCTACCTGGAGCTGCAGAAGGGACAGCTGCATGGGGAGCTGGGGACTGAGGGGTGAGGCTGGGGCTGGGGTCAGCTCGAAGGAACCCTCAGAGGGTGACTCTGTTCTGGCTTGTCCCAGAGGAAGGGGAGAGAATTCAGCATCCTCTCAGCAACCCTGGTGGCCCCAGGCCAGCCTCCATGTGCACTGGGGGGTGGCTAGGCACTTCCAGCCATGGTCTTTGCAGCCACAGACCCTTTGAGGATAGTGCCTCCAAGCGGCTGCTCAGCAGCTCCTAGAGAGCCAGGCATCTCCCTTGTTCACAGATCCACAGAGGCCTTTGTCCTGACCATTTATTGGGGACTTTTTGCTCAGCACTGTAGGAGGAAAGAAGGAAGGAGGGATGGAAGCCTCTTCCTCTGCTTCTCCTGTCCCTAGAACCGTAAAGCCCAGACGTCCTGCTTCCCACTGGGACCCTCAATGATAACAGGGTCAGTGACTGACTCTGAGGCAGCAAGGACAGAGGAGAGGTGGACCCCGTGGTCCAGGGGCCCGGGCGTGGAGCTGACAGGAAGAACACAGATGTCAGGACGGGCTCAGCAACACAGGTCCCAGGTGTCCGGGGTCTCCTGAACTCCAGGAAGCAGTGACACCCCCGAGGGCTGCTGTGGGTGGGTTCTTAGCTTACAGCAGGCTGGCCAGGCAGCCCAGGCTTCCGGGGCTGGTTGGGGCCGATGTACTGGAGAGGCACGTGGGTAGGGGCTGTGATCCGATCAGTGCCGAGGTAGGACTGGAGGGCAGGGGGCACGAGCACTGAGCCGTCCTGGGGACAGAGCAGACCTCAGGACACTGCAGATGCCCCAGCCCTCCCCGGCGCTGAGCTGCCTCTCTGGGTGGGCCCCTCAGCCCCTCACCTTCTGCTGGTTACTCTCCAGGAGCGCGATGAGAAGGCGGGGGACAGCACAGGCGGTGGCGTTCACCTGTGAGACAGCCATGCTCGGAACTGGCGCCCACCCCAAGCTGAGCCCGGGGAGGAGCCAAGGTGGGTGGGTCTAGGGCGGCAGAGGCTGCGGGCGAGGGCACGCGGGCAGGAGGCTGTGCGGGCCTCACCGTGTGGGCAAACTGCAGCTCCCCAGCCTCGGTCTGGAACATGATGTGGAGGCGGCGGCTCTGGAAGTCTGTGCAGTTGGAAGCACTGGTGACCTGGGGTGGAGGAGCGGCAGGCTGAGCGGATCAGGGATGGGGGGCAGGCCTGTCCTCCTGCCCACCCCGTCCCCAGCGGCACAGGGCTCACCTCTCCAAAGCGGCCTCGGCCTGGCATCCAGGCCTCAATGTCAAACTTGCGGTAGGCGGGGAGGCCCAGTTCTTGGGTGGGCATATCCAGGACCCTGCGGTCAAGGACGAAGGTGTGGGGAAGGTCAGCGGGTGAGAGGAGGAGCAAGAGGAACAAATGGAAACGATGGAAGAGAAGGCAGCCAAAAAGCAGGAAAAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGACCTCATCTACTCCAAAAAAACAAACAAAAAAAAGGAGACGATAGTGCCAAAGGAGAGAGTTGTGAGGCCAGGGGTGGTTATGGAGAAGGTGGTACATGGAGGGGGAAGCACAAAAGAGGTTGATGGGAGGGGAAAAAGGCACGTGGCAGGGTCCACCGGCTCTTCACAGTGGCCATTCACACATTTGCACCTTCTAGGCACCCTCGGTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTTCAGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGATGGGATTACAGGTGTGTGCCACCATGCCCGGCTGATTTTTATATTTTTAGTATAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCCCGGCCTCCCAAAGTGCTGGGATTGTAGGTGTGAGCCACCGTGCCTGGCCTTTATTTTTTTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCCAGGCTAGAGTGCAGTGGCATGATCACAGCTCATTGTAGCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACCACAGGTGTGTGCCACCATACCCGGCTAATTTTAAAAAACGTAAAGACGAGCTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCACACCCGGCTTACGCTCCCAGTTTTTTACAATGGGTCACCCAGAAAAGAAGTCCACATTTCTCAGCCTCTCTTGAAAGCTGCGTGTGACTGACAGGGTGAGAGGAAGTGGGGTTCCCAACCTCTGGCTCCCCCTTTTCCCACCCCCACTCTCCACTGGGAGGTGAAAAAGTATCTTGGGTTGCACAGATGAGGCAGTGGCCCAGAGAGAGGGGGAGCAGCAGGAGGAAAGGGGCCCGGGTCTCCACTCTGGCACACCGTGCACTGTTCGTGCTTCTGTTACAGTCCTGTGAGGGACGACCGGCACACGGCAGACAGATTGGGATCCTGTATATGCTCCTGTAATCCTTGTACAGGAAAATGGGGGCAACGAGGGGGCTGGAGAGGTGGTTCCAGAGCGAAGAGCAGCTGGCCAGCCCCTTGT
|
GGAGTTCAAGACCAGCCTGGTCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAAATTAGCCGGACATGGTGGCACCTCCCTGTAATCCCAGCTATGCGGGAGGCTGAGGCAAAAGAATCTCTCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTATCTCAGATGTAGGTACTGAGTGCTGGGGGGGTTTTACTGTGGTCACGGAAGACTTCTTGGAAGAGGTGACATTTGAGCTAAGGCCTGAGTGACAAGATGGAGGCCAGCACACACCATCTAGGGGAGAGACAGCCAGAGAGGGAGACTCACCAATGTAAGTGCACGAGTCAGGAAGGAGTTTGGAGAGTTTCAATGTCAAGGCGGGTCGGGTGGACCAAACAAGACAGAAAGATGGGCTGAAGAGGAAGGTGGAGCAGCTCAGGTGGGGTCTTAGGGGCCTCGATGACCACTTTACCCTTTTACTCTGAGACGAAGCCACAGGAGACCTCTGAGCAGGGGTGGGACACCCAGCTGAGGTGCTCACAGGTCCCTCTGGCTGTGTGGCGAGGATGGAGAACAGGGAGCCAGTGAAGAGGCTTCCAGGGTTAACCAAAGGGGAGGGATCGGGGAGCAGGGCCCAGGTGGGGTCAGGGAGGAGAGAACAGTAGGCAGAGTCTGGAAATCTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTAGTGTGATCCCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGAATTCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCGCCACCACACCCAGCTCTTTTTTTTTTTAGATGGAGTCTCGCACTGTAGCCCATGCTGGAGTGCAGTGGCGCGATCTCCACTCACCACAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGACCTCAGGTGATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCTGGCCAGATTCTGGAAATATTCTGAAGGCGGTGTTGCCAGGGTTGCTAATGAAGTGGAGTGGATATGAGATAAAAGTCGAGGCTAACCCGAAGGGCTGTGGCCTGGGCAGCCGGGAGAATGTGCTGGGATGGGCATGCCTGAGGAGGAGCAGGTGCAGGCCAAGTGATCAGAGGACCAGGTAGCTTCCCTGAGTTTGGGATGCCCACTGGGCCCCTACCTGGAGCTGCAGAAGGGACAGCTGCATGGGGAGCTGGGGACTGAGGGGTGAGGCTGGGGCTGGGGTCAGCTCGAAGGAACCCTCAGAGGGTGACTCTGTTCTGGCTTGTCCCAGAGGAAGGGGAGAGAATTCAGCATCCTCTCAGCAACCCTGGTGGCCCCAGGCCAGCCTCCATGTGCACTGGGGGGTGGCTAGGCACTTCCAGCCATGGTCTTTGCAGCCACAGACCCTTTGAGGATAGTGCCTCCAAGCGGCTGCTCAGCAGCTCCTAGAGAGCCAGGCATCTCCCTTGTTCACAGATCCACAGAGGCCTTTGTCCTGACCATTTATTGGGGACTTTTTGCTCAGCACTGTAGGAGGAAAGAAGGAAGGAGGGATGGAAGCCTCTTCCTCTGCTTCTCCTGTCCCTAGAACCGTAAAGCCCAGACGTCCTGCTTCCCACTGGGACCCTCAATGATAACAGGGTCAGTGACTGACTCTGAGGCAGCAAGGACAGAGGAGAGGTGGACCCCGTGGTCCAGGGGCCCGGGCGTGGAGCTGACAGGAAGAACACAGATGTCAGGACGGGCTCAGCAACACAGGTCCCAGGTGTCCGGGGTCTCCTGAACTCCAGGAAGCAGTGACACCCCCGAGGGCTGCTGTGGGTGGGTTCTTAGCTTACAGCAGGCTGGCCAGGCAGCCCAGGCAGCCCAGGCTTCCGGGGCTGGTTGGGGCCGATGTACTGGAGAGGCACGTGGGTAGGGGCTGTGATCCGATCAGTGCCGAGGTAGGACTGGAGGGCAGGGGGCACGAGCACTGAGCCGTCCTGGGGACAGAGCAGACCTCAGGACACTGCAGATGCCCCAGCCCTCCCCGGCGCTGAGCTGCCTCTCTGGGTGGGCCCCTCAGCCCCTCACCTTCTGCTGGTTACTCTCCAGGAGCGCGATGAGAAGGCGGGGGACAGCACAGGCGGTGGCGTTCACCTGTGAGACAGCCATGCTCGGAACTGGCGCCCACCCCAAGCTGAGCCCGGGGAGGAGCCAAGGTGGGTGGGTCTAGGGCGGCAGAGGCTGCGGGCGAGGGCACGCGGGCAGGAGGCTGTGCGGGCCTCACCGTGTGGGCAAACTGCAGCTCCCCAGCCTCGGTCTGGAACATGATGTGGAGGCGGCGGCTCTGGAAGTCTGTGCAGTTGGAAGCACTGGTGACCTGGGGTGGAGGAGCGGCAGGCTGAGCGGATCAGGGATGGGGGGCAGGCCTGTCCTCCTGCCCACCCCGTCCCCAGCGGCACAGGGCTCACCTCTCCAAAGCGGCCTCGGCCTGGCATCCAGGCCTCAATGTCAAACTTGCGGTAGGCGGGGAGGCCCAGTTCTTGGGTGGGCATATCCAGGACCCTGCGGTCAAGGACGAAGGTGTGGGGAAGGTCAGCGGGTGAGAGGAGGAGCAAGAGGAACAAATGGAAACGATGGAAGAGAAGGCAGCCAAAAAGCAGGAAAAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGACCTCATCTACTCCAAAAAAACAAACAAAAAAAAGGAGACGATAGTGCCAAAGGAGAGAGTTGTGAGGCCAGGGGTGGTTATGGAGAAGGTGGTACATGGAGGGGGAAGCACAAAAGAGGTTGATGGGAGGGGAAAAAGGCACGTGGCAGGGTCCACCGGCTCTTCACAGTGGCCATTCACACATTTGCACCTTCTAGGCACCCTCGGTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTTCAGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGATGGGATTACAGGTGTGTGCCACCATGCCCGGCTGATTTTTATATTTTTAGTATAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCCCGGCCTCCCAAAGTGCTGGGATTGTAGGTGTGAGCCACCGTGCCTGGCCTTTATTTTTTTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCCAGGCTAGAGTGCAGTGGCATGATCACAGCTCATTGTAGCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACCACAGGTGTGTGCCACCATACCCGGCTAATTTTAAAAAACGTAAAGACGAGCTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCACACCCGGCTTACGCTCCCAGTTTTTTACAATGGGTCACCCAGAAAAGAAGTCCACATTTCTCAGCCTCTCTTGAAAGCTGCGTGTGACTGACAGGGTGAGAGGAAGTGGGGTTCCCAACCTCTGGCTCCCCCTTTTCCCACCCCCACTCTCCACTGGGAGGTGAAAAAGTATCTTGGGTTGCACAGATGAGGCAGTGGCCCAGAGAGAGGGGGAGCAGCAGGAGGAAAGGGGCCCGGGTCTCCACTCTGGCACACCGTGCACTGTTCGTGCTTCTGTTACAGTCCTGTGAGGGACGACCGGCACACGGCAGACAGATTGGGATCCTGTATATGCTCCTGTAATCCTTGTACAGGAAAATGGGGGCAACGAGGGGGCTGGAGAGGTGGTTCCAGAGCGAAGAGCAGCTGGCCA
|
benign
| 304,543 |
A genetic variant at chromosome 19, position 38918406, affecting gene SARS2 (seryl-tRNA synthetase 2, mitochondrial)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
GGAGGAGCAAGAGGAACAAATGGAAACGATGGAAGAGAAGGCAGCCAAAAAGCAGGAAAAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGACCTCATCTACTCCAAAAAAACAAACAAAAAAAAGGAGACGATAGTGCCAAAGGAGAGAGTTGTGAGGCCAGGGGTGGTTATGGAGAAGGTGGTACATGGAGGGGGAAGCACAAAAGAGGTTGATGGGAGGGGAAAAAGGCACGTGGCAGGGTCCACCGGCTCTTCACAGTGGCCATTCACACATTTGCACCTTCTAGGCACCCTCGGTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTTCAGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGATGGGATTACAGGTGTGTGCCACCATGCCCGGCTGATTTTTATATTTTTAGTATAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCCCGGCCTCCCAAAGTGCTGGGATTGTAGGTGTGAGCCACCGTGCCTGGCCTTTATTTTTTTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCCAGGCTAGAGTGCAGTGGCATGATCACAGCTCATTGTAGCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACCACAGGTGTGTGCCACCATACCCGGCTAATTTTAAAAAACGTAAAGACGAGCTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCACACCCGGCTTACGCTCCCAGTTTTTTACAATGGGTCACCCAGAAAAGAAGTCCACATTTCTCAGCCTCTCTTGAAAGCTGCGTGTGACTGACAGGGTGAGAGGAAGTGGGGTTCCCAACCTCTGGCTCCCCCTTTTCCCACCCCCACTCTCCACTGGGAGGTGAAAAAGTATCTTGGGTTGCACAGATGAGGCAGTGGCCCAGAGAGAGGGGGAGCAGCAGGAGGAAAGGGGCCCGGGTCTCCACTCTGGCACACCGTGCACTGTTCGTGCTTCTGTTACAGTCCTGTGAGGGACGACCGGCACACGGCAGACAGATTGGGATCCTGTATATGCTCCTGTAATCCTTGTACAGGAAAATGGGGGCAACGAGGGGGCTGGAGAGGTGGTTCCAGAGCGAAGAGCAGCTGGCCAGCCCCTTGTCCCTCCCCTACCCCACCCCTGCCATCCCTGGATCCCTGGCCCCTCTCCACACCGGAAGTGCAAGCCCAGCTCTGTCAAGATCTCCATCTGAAGGGACAGGAACTCCTCCAGCAGCTGTGAGCTCTGCTCCAGCCCAGGGCCTGTCACCCCAAACATCTCCACCTGGGACAGAGGGCACAGGAGTCAGGAGGCTCTGAGCTCTTGGGGTGGCCCCCCACCCCAGCCCCGTTTAGTCCCAGCGACACCAGCCTTGGTGAAGTGGTGTACTCGATACAGCCCCCGGGGTTCCTGTCCCGTGTTTGTCTCTGCCCGGTAGCAGGTGCTGGAGCAAACCATCCTGGCAGAGAGCAGGGAAAGTCGGGTCAAGGAGGGAAGACTGATTGTCACAGGTGGGGTCAAGGTCTAAGGAAACCAGGTGTCACCTGACTGGCAGGTCCCTGAAGGCCACGGTGTGGTCCATGAAGTAGCCTGGGAGGAGAGACCACAGGGTGAGCCAGGGCTGCCAGTGCCCAGAGGAAGCCTTTGGAAGATTAAGAGGCACTCCCTCTGGTGGATGCAACCCCAGGTCAAGGCCCGGGGCTGGATTATCACTGTACTGCTGTACAGTAAACAACCTACACAGCCGTACATGTTGGCCCTGGGGCTGCTGAGCTGCTCGGGGCAGGTGATCCCCCCCAGTGCTCCCTGGACGCTCCCAGTTGTCCTTCCACATCACTCCTGCTCCTCCCCACCACCCACACAGGTCCTCACCTGCAAGCCCCACCTCCGCTGTTCCAGCCAGGTTGAGATCTTTGAAGCGGGCAGGGTCGATGTTGTAAATTTGGGATGGGTTGGCATTTGGTGTCATCCCACAGCCTTCCTGGGGGAGGAGGCCAGGCCACAGGGATCAGGGGACAGGTAACCCTGGCCTCTCGTTTTACAGTCCCAACCCCAGCTCCTCCCCTGAAAACATCTGGAGCTGCCCTGGCCTCCCTGGTATGGCCTGGCCCCCTCAACCCAGCCCCAGGGCGGTCTCCTCAGGTTTCCCTGCCTCGGGCACCCACGGCAGGGCCTGACACCCAGGTGGGCGAGGGAAGCGGAGAGGCCTCACTCACAAACACTGCTCCGCGGAGAAGGTCTGGCACCGTCATGGGGGTGAAGCCCTGTTCAGGGGAGAGGATGAGTGAGCAGAGCTGGGACCCCTACCAGACCCCAAGCTCAGCCCTGAAGAAGGGGTGCTGCAGAGCCCCTTCCTCCTCAGACGAAACTGAGGCAGGGGCTGGCGCAGTGGCTCACCCATGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCCACTAAAAAGGCAAAAATTAGCCGGCATGGAGATCGTGCTACTGCACTCCAGTCTGGGTGACAGAGCGAACTCTGTCAAAAAGAAAAAAAAAAAAATTAGCCAGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTACTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAACAAAAAAGTACAGATTTGGCCACACCCTCCCCTGCTTAAAAGCCTCCCATGGCTCCCTAGTACCCTCTGAAAATGTCTGAGTTCCTCACCGTGACCAATGCTCCATGCAACCAGTCCCTGCCATGTTTCAATGGATGCTATGATTCCCAAATGCTCCCTTTATACCGCAAGCAGGCAGTGAGGTGCAATGATTACAAGCACAGGCTCTAGGCCCAGCTCCAGACTGGCTGTGAGACCTTGGGCTATAGGTACCTCCCCTCTCTGGGCCTCAAGCCCTCTCTGTAAAGTGGGGATGATGACAGCACCCACTTCATAAAGTTGTCGTAAGGACTAAATGTGTCAATGATACACATGAAGCTCTGAGAGCAGTGACTAGGGCAGAGCAGAGATCACTCCCATCCCCGTTGGGCCCTCTGAGCTCAGCTTCGATGCCACCCCCTCCAGGCAGCCCTCCTATCTTGGCCCATACCCGGCGGAGAAGCTTGTTGAATGTGAAGTTGACCAGGCCGTGCTGCAGGAGGGCTCCAGCCCCGCGCAGGTAATAGGACCGGTGGCCAGACACGTGGGACAGGCGCCTGGGAGACAGACAGACAGGCGGGTGCACATGGGCCAGGCTGGCAGGGAATGTGGGGATGAAAACACCCGGGGGAAGAGGCCCGGCTGCTGGGTGGGGCTGGGGCATCAAAGATTCATGGCATTTCCACATCTCACGCTGAGGCCAATGAGGCAGGAGCCAGCTGTCGGGGTGCAGGCAGCTGGGAGAGGGGCGTGGGGAGCCAGGGGAGGGGCTCACTTCTGACGGATGATGTCGAGTTTCTCGCCAATTTCCAGGTGGCCCCGAGGTTGGAAGGAGAAAACTGGATGTGGGTGAAAAGCACCGGTGTAAGGCAGCGGGGAGAGAGGGATGGGGCCCAGATAGAAGCTTCCAGAGACAGCAGAGAGGAGGGACGGTGAGAGAAAATAAAGGAGGGGCAGGAGGAGAGAAGGGAGAAGAAGACACGGAAAGGGAGGGAAAGGGAAGAAAAGACAGACAGGAAGGGAGGGAGATAAAAACAGAGACAGGGAGAGGAAATGAGAGGAGGCAGAGAGGGAAATAAGAGGGCGCGGGGTGGGGAAGGCAGAGTTAGAAACAGAGGAGAGAGGCCAGAGGAGAAGGAAACA
|
GGAGGAGCAAGAGGAACAAATGGAAACGATGGAAGAGAAGGCAGCCAAAAAGCAGGAAAAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGACCTCATCTACTCCAAAAAAACAAACAAAAAAAAGGAGACGATAGTGCCAAAGGAGAGAGTTGTGAGGCCAGGGGTGGTTATGGAGAAGGTGGTACATGGAGGGGGAAGCACAAAAGAGGTTGATGGGAGGGGAAAAAGGCACGTGGCAGGGTCCACCGGCTCTTCACAGTGGCCATTCACACATTTGCACCTTCTAGGCACCCTCGGTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTTCAGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGATGGGATTACAGGTGTGTGCCACCATGCCCGGCTGATTTTTATATTTTTAGTATAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCCCGGCCTCCCAAAGTGCTGGGATTGTAGGTGTGAGCCACCGTGCCTGGCCTTTATTTTTTTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCCAGGCTAGAGTGCAGTGGCATGATCACAGCTCATTGTAGCCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACCACAGGTGTGTGCCACCATACCCGGCTAATTTTAAAAAACGTAAAGACGAGCTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCACACCCGGCTTACGCTCCCAGTTTTTTACAATGGGTCACCCAGAAAAGAAGTCCACATTTCTCAGCCTCTCTTGAAAGCTGCGTGTGACTGACAGGGTGAGAGGAAGTGGGGTTCCCAACCTCTGGCTCCCCCTTTTCCCACCCCCACTCTCCACTGGGAGGTGAAAAAGTATCTTGGGTTGCACAGATGAGGCAGTGGCCCAGAGAGAGGGGGAGCAGCAGGAGGAAAGGGGCCCGGGTCTCCACTCTGGCACACCGTGCACTGTTCGTGCTTCTGTTACAGTCCTGTGAGGGACGACCGGCACACGGCAGACAGATTGGGATCCTGTATATGCTCCTGTAATCCTTGTACAGGAAAATGGGGGCAACGAGGGGGCTGGAGAGGTGGTTCCAGAGCGAAGAGCAGCTGGCCAGCCCCTTGTCCCTCCCCTACCCCACCCCTGCCATCCCTGGATCCCTGGCCCCTCTCCACACCGGAAGTGCAAGCCCAGCTCTGTCAAGATCTCCATCTGAAGGGACAGGAACTCCTCCAGCAGCTGTGAGCTCTGCTCCAGCCCAGGGCCTGTCACCCCAAACATCTCCACCTGGGACAGAGGGCACAGGAGTCAGGAGGCTCTGAGCTCTTGGGGTGGCCCCCCACCCCAGCCCCGTTTAGTCCCAGCGACACCAGCCTTGGTGAAGTGGTGTACTCGATACAGCCCCCGGGGTTCCTGTCCCGTGTTTGTCTCTGCCCGGTAGCAGGTGCTGGAGCAAACCATCCTGGCAGAGAGCAGGGAAAGTCGGGTCAAGGAGGGAAGACTGATTGTCACAGGTGGGGTCAAGGTCTAAGGAAACCAGGTGTCACCTGACTGGCAGGTCCCTGAAGGCCACGGTGTGGTCCATGAAGTAGCCTGGGAGGAGAGACCACAGGGTGAGCCAGGGCTGCCAGTGCCCAGAGGAAGCCTTTGGAAGATTAAGAGGCACTCCCTCTGGTGGATGCAACCCCAGGTCAAGGCCCGGGGCTGGATTATCACTGTACTGCTGTACAGTAAACAACCTACACAGCCGTACATGTTGGCCCTGGGGCTGCTGAGCTGCTCGGGGCAGGTGATCCCCCCCAGTGCTCCCTGGACGCTCCCAGTTGTCCTTCCACATCACTCCTGCTCCTCCCCACCACCCACAGGTCCTCACCTGCAAGCCCCACCTCCGCTGTTCCAGCCAGGTTGAGATCTTTGAAGCGGGCAGGGTCGATGTTGTAAATTTGGGATGGGTTGGCATTTGGTGTCATCCCACAGCCTTCCTGGGGGAGGAGGCCAGGCCACAGGGATCAGGGGACAGGTAACCCTGGCCTCTCGTTTTACAGTCCCAACCCCAGCTCCTCCCCTGAAAACATCTGGAGCTGCCCTGGCCTCCCTGGTATGGCCTGGCCCCCTCAACCCAGCCCCAGGGCGGTCTCCTCAGGTTTCCCTGCCTCGGGCACCCACGGCAGGGCCTGACACCCAGGTGGGCGAGGGAAGCGGAGAGGCCTCACTCACAAACACTGCTCCGCGGAGAAGGTCTGGCACCGTCATGGGGGTGAAGCCCTGTTCAGGGGAGAGGATGAGTGAGCAGAGCTGGGACCCCTACCAGACCCCAAGCTCAGCCCTGAAGAAGGGGTGCTGCAGAGCCCCTTCCTCCTCAGACGAAACTGAGGCAGGGGCTGGCGCAGTGGCTCACCCATGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCCACTAAAAAGGCAAAAATTAGCCGGCATGGAGATCGTGCTACTGCACTCCAGTCTGGGTGACAGAGCGAACTCTGTCAAAAAGAAAAAAAAAAAAATTAGCCAGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTACTTAAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAACAAAAAAGTACAGATTTGGCCACACCCTCCCCTGCTTAAAAGCCTCCCATGGCTCCCTAGTACCCTCTGAAAATGTCTGAGTTCCTCACCGTGACCAATGCTCCATGCAACCAGTCCCTGCCATGTTTCAATGGATGCTATGATTCCCAAATGCTCCCTTTATACCGCAAGCAGGCAGTGAGGTGCAATGATTACAAGCACAGGCTCTAGGCCCAGCTCCAGACTGGCTGTGAGACCTTGGGCTATAGGTACCTCCCCTCTCTGGGCCTCAAGCCCTCTCTGTAAAGTGGGGATGATGACAGCACCCACTTCATAAAGTTGTCGTAAGGACTAAATGTGTCAATGATACACATGAAGCTCTGAGAGCAGTGACTAGGGCAGAGCAGAGATCACTCCCATCCCCGTTGGGCCCTCTGAGCTCAGCTTCGATGCCACCCCCTCCAGGCAGCCCTCCTATCTTGGCCCATACCCGGCGGAGAAGCTTGTTGAATGTGAAGTTGACCAGGCCGTGCTGCAGGAGGGCTCCAGCCCCGCGCAGGTAATAGGACCGGTGGCCAGACACGTGGGACAGGCGCCTGGGAGACAGACAGACAGGCGGGTGCACATGGGCCAGGCTGGCAGGGAATGTGGGGATGAAAACACCCGGGGGAAGAGGCCCGGCTGCTGGGTGGGGCTGGGGCATCAAAGATTCATGGCATTTCCACATCTCACGCTGAGGCCAATGAGGCAGGAGCCAGCTGTCGGGGTGCAGGCAGCTGGGAGAGGGGCGTGGGGAGCCAGGGGAGGGGCTCACTTCTGACGGATGATGTCGAGTTTCTCGCCAATTTCCAGGTGGCCCCGAGGTTGGAAGGAGAAAACTGGATGTGGGTGAAAAGCACCGGTGTAAGGCAGCGGGGAGAGAGGGATGGGGCCCAGATAGAAGCTTCCAGAGACAGCAGAGAGGAGGGACGGTGAGAGAAAATAAAGGAGGGGCAGGAGGAGAGAAGGGAGAAGAAGACACGGAAAGGGAGGGAAAGGGAAGAAAAGACAGACAGGAAGGGAGGGAGATAAAAACAGAGACAGGGAGAGGAAATGAGAGGAGGCAGAGAGGGAAATAAGAGGGCGCGGGGTGGGGAAGGCAGAGTTAGAAACAGAGGAGAGAGGCCAGAGGAGAAGGAAACANN
|
benign
| 304,553 |
A genetic variant at chromosome 19, position 38922088, affecting gene SARS2 (seryl-tRNA synthetase 2, mitochondrial)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
GCAGGCAGCTGGGAGAGGGGCGTGGGGAGCCAGGGGAGGGGCTCACTTCTGACGGATGATGTCGAGTTTCTCGCCAATTTCCAGGTGGCCCCGAGGTTGGAAGGAGAAAACTGGATGTGGGTGAAAAGCACCGGTGTAAGGCAGCGGGGAGAGAGGGATGGGGCCCAGATAGAAGCTTCCAGAGACAGCAGAGAGGAGGGACGGTGAGAGAAAATAAAGGAGGGGCAGGAGGAGAGAAGGGAGAAGAAGACACGGAAAGGGAGGGAAAGGGAAGAAAAGACAGACAGGAAGGGAGGGAGATAAAAACAGAGACAGGGAGAGGAAATGAGAGGAGGCAGAGAGGGAAATAAGAGGGCGCGGGGTGGGGAAGGCAGAGTTAGAAACAGAGGAGAGAGGCCAGAGGAGAAGGAAACACCACGAGGAAGGGAGGAGGAGAATCAGAGAGGAGGCACAGAGTTGGGGAGAAAAAGCCCCGGAGACAGGGACCAAAGCAGGGGGGTCAGAGAGAGAGACAGAGACACACACACACTCACACACATACATACACACACAGAGATACACACAGAGGTACGAAGACACACACACATATACAGACACACAGAGACAGACACATACACAGACACGCAGAGACAGACACACAGATACACGGATACAGACACACAAAGACAGACACGCACACACAGATACACACAAAGACACAGATACACAGACACAGATACAGACATACACACAGAGATACACGGAGATATGCAGATACACACACAGACACACAGAGACAGACACATACACACAGACACAGAGAAAGACACACAGATACATACACACAGATACATAGACACACACAGACACACACACACACAAACACAGATATACACACACAGAGATAGACACACACATAGACACACACACACAGACACAGACACAGATACAGACACACACAAACACAGACACACACACACAGATACAGACACACACAGATACACAGATACAGACACACACAGATACACAGATACAGACACACACATACAGATACAGACACACAGATACAGACACACATGACACACAGTCACACAACACATACATACACGACACACACTCACACACATACGATACAATCACACAACACAGGGTGAGACTGCCCAATGGTGAAGGGGGAGAGAATGAAAACCCAAGGACCGCCTCTCAGAGACAGCTCGAGCTCGGCCAAGGCAGGAAGCTGGAGCCACCTCCTGTACCGCCAGGAGTTCTCCAGGCTCCAGACATGTTCCCAGACCCCAGGGGCCCCCACCCCGAGACCCCAGAACCCCCACACCGCAGGGCTTGTCAGCTCCCAGGCCTGGGGTGTGGCCCACCTGGCTTGTCTCCGACCATGTGGAGCACTCGAGCCTGGCTCTCATCCCCGACGGGCTGCAGGGAGACAGCAGGAGTCACGGAAAGGTGGCACTAGGTGGGCCCCTGGCCTCCCTGCCACCCAGCACGGTGCTCACCACGTCTGGGTGGGTCTGGTTGGGCAGCTTCAGCGCCTGCAGGTAGAACTGCTCCTCAAGCTGGGCCTCCCTGGGGTACAGGTGAACAAGCTCCTTCCGGATCTCCCGGCCACGTGCCCGCAGACCCTGGTACTTGGGGTCCTGGGGGCAGCACAGGTGGGCTCAGCCCGGGAGAGGGTCAGGACTCCCTCATCCAGTGTGACCTTGATCCTGACCGGCAGAGCCCCTGTGGTGGACATTCATGCCTCTTCTCCAGGCCCAGGATCCTGAACGTCTTCGCAGAACTTCCCTTACCACCACATGGCAGGTTTGTGGGGAAAAGAATCAGGCCTGGCCAACTAGAACGTTCTATTGCCTTGGCCACAATGACTGGCTCAGAGACAGGCACCTGATGTCAGCTGAACTCATGAGAATCAGCCCCAGGACTTTAACTGGAACTATCAGGAAAGCGTGCTTGACTTTGCCTCCTACTTACACAAGGAGAGAAAGCTGGCCTGGGAATGGGAGGAACGTAGGACCAAATATGGAGCCAGCACCTGGATCCAGCCGCACCTGAAGCCAGTTTTAGTTTCATGCATCAATAGAGCCTATTTTTTTTTTCCCCTTAAACCTGTTTGAGTTGTTTTCTGTTACAATAGTAGAATCGTGACTGGCAGGGTATCCTCCCTGCCCACCCCCAACCCTGGATAGGACATCAACTCTTCACAGTACCTGCTGCACTTCACCACTGTCCTGGTTTGCCTGGTAGAAAAGAGACAGGGTGGGTGATTAGGTTGACAAAGTCGAGGGTGGGGAAGAGAAAAAATGGTGAAAGGTCAAACAAGGCCAGAGGATCTTAGTCTCCTGCTCTGTCAGTGCCTAGCTGGGTCCCTCTGCAACTCTGTGTTTCTGTTTCTCTATTGCTAACGCTACAAGGAGGCAAGATAATTAACAGTAATCACAGCCGCAGATCCGTATAGGAAGTGATGCCTCCATGCCAGGCTCTATGTACAGGGCTCTCCCATGCCATGATTTCTTCAAAATCCACTTTAGGAGGTAGGCATTCGTGTAAACCCTGTGATATGGTTTGGCTGTGTCTCCACCCAAATAATATCTCAAATTGTAATTCCACCTGTTGAGGAAGGGACCTGGTGGGAGGTGATCGGGTCCTGGGGGCGGTTTCCCCCATGCTGTTATCCTGATAGTGAGTTCTCACGAGATCTGATGGTTTAAAAGCATTTGGCAGTTACCCCCTGTGGCTGTCTCCAGCCACCATGTGGAAGGGAAAGTGCCTTGCTTCCCCTTCCGCCATGATTTTAAGTTTCCTGAGGCCTCCCAGCCATATGGAACTGTGAGTCAATTAAACCTCTTTTCTTTATAAATTACCCAGTCTCAGGTATTCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGATCGGCTAATTTTTTTTGTATTTTTCGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGATCTCAGGTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGGTTTTCTTTATAGCAGTGTGAAAATGGGGCCAGGCGTGGTGGTTCACAAATGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGCCAGCAGTTGGAGAGCAGCCTGGCCAACATGGAGAAACCTCATCTCTAAAACCTTGTACTAAAAATACAAAAATCAGGCCGGGCTTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTCTCTACTAAAAATACAGAAAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTACAGTGAGCCGAGATAGTGCCACTGCAGTCTGGCCTAGGTGGAAGAGCGAGACTCAGTCTCAAAAAAAAATTAGCTGGGTGCAGTGGCACGTGCCTGTAATCCCAGCGACTCAGGAGGCTGAGGCACGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTACTCTGGTCTGGGTGACACAGTGAGACTCTGTCTCAAAA
|
GCAGGCAGCTGGGAGAGGGGCGTGGGGAGCCAGGGGAGGGGCTCACTTCTGACGGATGATGTCGAGTTTCTCGCCAATTTCCAGGTGGCCCCGAGGTTGGAAGGAGAAAACTGGATGTGGGTGAAAAGCACCGGTGTAAGGCAGCGGGGAGAGAGGGATGGGGCCCAGATAGAAGCTTCCAGAGACAGCAGAGAGGAGGGACGGTGAGAGAAAATAAAGGAGGGGCAGGAGGAGAGAAGGGAGAAGAAGACACGGAAAGGGAGGGAAAGGGAAGAAAAGACAGACAGGAAGGGAGGGAGATAAAAACAGAGACAGGGAGAGGAAATGAGAGGAGGCAGAGAGGGAAATAAGAGGGCGCGGGGTGGGGAAGGCAGAGTTAGAAACAGAGGAGAGAGGCCAGAGGAGAAGGAAACACCACGAGGAAGGGAGGAGGAGAATCAGAGAGGAGGCACAGAGTTGGGGAGAAAAAGCCCCGGAGACAGGGACCAAAGCAGGGGGGTCAGAGAGAGAGACAGAGACACACACACACTCACACACATACATACACACACAGAGATACACACAGAGGTACGAAGACACACACACATATACAGACACACAGAGACAGACACATACACAGACACGCAGAGACAGACACACAGATACACGGATACAGACACACAAAGACAGACACGCACACACAGATACACACAAAGACACAGATACACAGACACAGATACAGACATACACACAGAGATACACGGAGATATGCAGATACACACACAGACACACAGAGACAGACACATACACACAGACACAGAGAAAGACACACAGATACATACACACAGATACATAGACACACACAGACACACACACACACAAACACAGATATACACACACAGAGATAGACACACACATAGACACACACACACAGACACAGACACAGATACAGACACACACAAACACAGACACACACACACAGATACAGACACACACAGATACACAGATACAGACACACACAGATACACAGATACAGACACACACATACAGATACAGACACACAGATACAGACACACATGACACACAGTCACACAACACATACATACACGACACACACTCACACACATACGATACAATCACACAACACAGGGTGAGACTGCCCAATGGTGAAGGGGGAGAGAATGAAAACCCAAGGACCGCCTCTCAGAGACAGCTCGAGCTCGGCCAAGGCAGGAAGCTGGAGCCACCTCCTGTACCGCCAGGAGTTCTCCAGGCTCCAGACATGTTCCCAGACCCCAGGGGCCCCCACCCCGAGACCCCAGAACCCCCACACCGCAGGGCTTGTCAGCTCCCAGGCCTGGGGTGTGGCCCACCTGGCTTGTCTCCGACCATGTGGAGCACTCGAGCCTGGCTCTCATCCCCGACGGGCTGCAGGGAGACAGCAGGAGTCACGGAAAGGTGGCACTAGGTGGGCCCCTGGCCTCCCTGCCACCCAGCACGGTGCTCACCACGTCTGGGTGGGTCTGGTTGGGCAGCTTCAGCGCCTGCAGGTAGAACTGCTCCTCAAGCTGGGCCTCCCTGGGGTACAGGTGAACAAGCTCCTTCCGGATCTCCCGGCCACGTGCCCGCAGACCCTGGTACTTGGGGTCCTGGGGGCAGCACAGGTGGGCTCAGCCCGGGAGAGGGTCAGGACTCCCTCATCCAGTGTGACCTTGATCCTGACCGGCAGAGCCCCTGTGGTGGACATTCATGCCTCTTCTCCAGGCCCAGGATCCTGAACGTCTTCGCAGAACTTCCCTTACCACCACATGGCAGGTTTGTGGGGAAAAGAATCAGGCCTGGCCAACTAGAACGTTCTATTGCCTTGGCCACAATGACTGGCTCAGAGACAGGCACCTGATGTCAGCTGAACTCATGAGAATCAGCCCCAGGACTTTAACTGGAACTATCAGGAAAGCGTGCTTGACTTTGCCTCCTACTTACACAAGGAGAGAAAGCTGGCCTGGGAATGGGAGGAACGTAGGACCAAATATGGAGCCAGCACCTGGATCCAGCCGCACCTGAAGCCAGTTTAGTTTCATGCATCAATAGAGCCTATTTTTTTTTTCCCCTTAAACCTGTTTGAGTTGTTTTCTGTTACAATAGTAGAATCGTGACTGGCAGGGTATCCTCCCTGCCCACCCCCAACCCTGGATAGGACATCAACTCTTCACAGTACCTGCTGCACTTCACCACTGTCCTGGTTTGCCTGGTAGAAAAGAGACAGGGTGGGTGATTAGGTTGACAAAGTCGAGGGTGGGGAAGAGAAAAAATGGTGAAAGGTCAAACAAGGCCAGAGGATCTTAGTCTCCTGCTCTGTCAGTGCCTAGCTGGGTCCCTCTGCAACTCTGTGTTTCTGTTTCTCTATTGCTAACGCTACAAGGAGGCAAGATAATTAACAGTAATCACAGCCGCAGATCCGTATAGGAAGTGATGCCTCCATGCCAGGCTCTATGTACAGGGCTCTCCCATGCCATGATTTCTTCAAAATCCACTTTAGGAGGTAGGCATTCGTGTAAACCCTGTGATATGGTTTGGCTGTGTCTCCACCCAAATAATATCTCAAATTGTAATTCCACCTGTTGAGGAAGGGACCTGGTGGGAGGTGATCGGGTCCTGGGGGCGGTTTCCCCCATGCTGTTATCCTGATAGTGAGTTCTCACGAGATCTGATGGTTTAAAAGCATTTGGCAGTTACCCCCTGTGGCTGTCTCCAGCCACCATGTGGAAGGGAAAGTGCCTTGCTTCCCCTTCCGCCATGATTTTAAGTTTCCTGAGGCCTCCCAGCCATATGGAACTGTGAGTCAATTAAACCTCTTTTCTTTATAAATTACCCAGTCTCAGGTATTCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGATCGGCTAATTTTTTTTGTATTTTTCGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGATCTCAGGTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGGTTTTCTTTATAGCAGTGTGAAAATGGGGCCAGGCGTGGTGGTTCACAAATGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGCCAGCAGTTGGAGAGCAGCCTGGCCAACATGGAGAAACCTCATCTCTAAAACCTTGTACTAAAAATACAAAAATCAGGCCGGGCTTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTCTCTACTAAAAATACAGAAAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTACAGTGAGCCGAGATAGTGCCACTGCAGTCTGGCCTAGGTGGAAGAGCGAGACTCAGTCTCAAAAAAAAATTAGCTGGGTGCAGTGGCACGTGCCTGTAATCCCAGCGACTCAGGAGGCTGAGGCACGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTACTCTGGTCTGGGTGACACAGTGAGACTCTGTCTCAAAAN
|
benign
| 304,573 |
Is chromosome 19, position 38922116, gene SARS2 (seryl-tRNA synthetase 2, mitochondrial) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
GCCAGGGGAGGGGCTCACTTCTGACGGATGATGTCGAGTTTCTCGCCAATTTCCAGGTGGCCCCGAGGTTGGAAGGAGAAAACTGGATGTGGGTGAAAAGCACCGGTGTAAGGCAGCGGGGAGAGAGGGATGGGGCCCAGATAGAAGCTTCCAGAGACAGCAGAGAGGAGGGACGGTGAGAGAAAATAAAGGAGGGGCAGGAGGAGAGAAGGGAGAAGAAGACACGGAAAGGGAGGGAAAGGGAAGAAAAGACAGACAGGAAGGGAGGGAGATAAAAACAGAGACAGGGAGAGGAAATGAGAGGAGGCAGAGAGGGAAATAAGAGGGCGCGGGGTGGGGAAGGCAGAGTTAGAAACAGAGGAGAGAGGCCAGAGGAGAAGGAAACACCACGAGGAAGGGAGGAGGAGAATCAGAGAGGAGGCACAGAGTTGGGGAGAAAAAGCCCCGGAGACAGGGACCAAAGCAGGGGGGTCAGAGAGAGAGACAGAGACACACACACACTCACACACATACATACACACACAGAGATACACACAGAGGTACGAAGACACACACACATATACAGACACACAGAGACAGACACATACACAGACACGCAGAGACAGACACACAGATACACGGATACAGACACACAAAGACAGACACGCACACACAGATACACACAAAGACACAGATACACAGACACAGATACAGACATACACACAGAGATACACGGAGATATGCAGATACACACACAGACACACAGAGACAGACACATACACACAGACACAGAGAAAGACACACAGATACATACACACAGATACATAGACACACACAGACACACACACACACAAACACAGATATACACACACAGAGATAGACACACACATAGACACACACACACAGACACAGACACAGATACAGACACACACAAACACAGACACACACACACAGATACAGACACACACAGATACACAGATACAGACACACACAGATACACAGATACAGACACACACATACAGATACAGACACACAGATACAGACACACATGACACACAGTCACACAACACATACATACACGACACACACTCACACACATACGATACAATCACACAACACAGGGTGAGACTGCCCAATGGTGAAGGGGGAGAGAATGAAAACCCAAGGACCGCCTCTCAGAGACAGCTCGAGCTCGGCCAAGGCAGGAAGCTGGAGCCACCTCCTGTACCGCCAGGAGTTCTCCAGGCTCCAGACATGTTCCCAGACCCCAGGGGCCCCCACCCCGAGACCCCAGAACCCCCACACCGCAGGGCTTGTCAGCTCCCAGGCCTGGGGTGTGGCCCACCTGGCTTGTCTCCGACCATGTGGAGCACTCGAGCCTGGCTCTCATCCCCGACGGGCTGCAGGGAGACAGCAGGAGTCACGGAAAGGTGGCACTAGGTGGGCCCCTGGCCTCCCTGCCACCCAGCACGGTGCTCACCACGTCTGGGTGGGTCTGGTTGGGCAGCTTCAGCGCCTGCAGGTAGAACTGCTCCTCAAGCTGGGCCTCCCTGGGGTACAGGTGAACAAGCTCCTTCCGGATCTCCCGGCCACGTGCCCGCAGACCCTGGTACTTGGGGTCCTGGGGGCAGCACAGGTGGGCTCAGCCCGGGAGAGGGTCAGGACTCCCTCATCCAGTGTGACCTTGATCCTGACCGGCAGAGCCCCTGTGGTGGACATTCATGCCTCTTCTCCAGGCCCAGGATCCTGAACGTCTTCGCAGAACTTCCCTTACCACCACATGGCAGGTTTGTGGGGAAAAGAATCAGGCCTGGCCAACTAGAACGTTCTATTGCCTTGGCCACAATGACTGGCTCAGAGACAGGCACCTGATGTCAGCTGAACTCATGAGAATCAGCCCCAGGACTTTAACTGGAACTATCAGGAAAGCGTGCTTGACTTTGCCTCCTACTTACACAAGGAGAGAAAGCTGGCCTGGGAATGGGAGGAACGTAGGACCAAATATGGAGCCAGCACCTGGATCCAGCCGCACCTGAAGCCAGTTTTAGTTTCATGCATCAATAGAGCCTATTTTTTTTTTCCCCTTAAACCTGTTTGAGTTGTTTTCTGTTACAATAGTAGAATCGTGACTGGCAGGGTATCCTCCCTGCCCACCCCCAACCCTGGATAGGACATCAACTCTTCACAGTACCTGCTGCACTTCACCACTGTCCTGGTTTGCCTGGTAGAAAAGAGACAGGGTGGGTGATTAGGTTGACAAAGTCGAGGGTGGGGAAGAGAAAAAATGGTGAAAGGTCAAACAAGGCCAGAGGATCTTAGTCTCCTGCTCTGTCAGTGCCTAGCTGGGTCCCTCTGCAACTCTGTGTTTCTGTTTCTCTATTGCTAACGCTACAAGGAGGCAAGATAATTAACAGTAATCACAGCCGCAGATCCGTATAGGAAGTGATGCCTCCATGCCAGGCTCTATGTACAGGGCTCTCCCATGCCATGATTTCTTCAAAATCCACTTTAGGAGGTAGGCATTCGTGTAAACCCTGTGATATGGTTTGGCTGTGTCTCCACCCAAATAATATCTCAAATTGTAATTCCACCTGTTGAGGAAGGGACCTGGTGGGAGGTGATCGGGTCCTGGGGGCGGTTTCCCCCATGCTGTTATCCTGATAGTGAGTTCTCACGAGATCTGATGGTTTAAAAGCATTTGGCAGTTACCCCCTGTGGCTGTCTCCAGCCACCATGTGGAAGGGAAAGTGCCTTGCTTCCCCTTCCGCCATGATTTTAAGTTTCCTGAGGCCTCCCAGCCATATGGAACTGTGAGTCAATTAAACCTCTTTTCTTTATAAATTACCCAGTCTCAGGTATTCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGATCGGCTAATTTTTTTTGTATTTTTCGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGATCTCAGGTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGGTTTTCTTTATAGCAGTGTGAAAATGGGGCCAGGCGTGGTGGTTCACAAATGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGCCAGCAGTTGGAGAGCAGCCTGGCCAACATGGAGAAACCTCATCTCTAAAACCTTGTACTAAAAATACAAAAATCAGGCCGGGCTTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTCTCTACTAAAAATACAGAAAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTACAGTGAGCCGAGATAGTGCCACTGCAGTCTGGCCTAGGTGGAAGAGCGAGACTCAGTCTCAAAAAAAAATTAGCTGGGTGCAGTGGCACGTGCCTGTAATCCCAGCGACTCAGGAGGCTGAGGCACGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTACTCTGGTCTGGGTGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAGAAAATGGACTAATATA
|
GCCAGGGGAGGGGCTCACTTCTGACGGATGATGTCGAGTTTCTCGCCAATTTCCAGGTGGCCCCGAGGTTGGAAGGAGAAAACTGGATGTGGGTGAAAAGCACCGGTGTAAGGCAGCGGGGAGAGAGGGATGGGGCCCAGATAGAAGCTTCCAGAGACAGCAGAGAGGAGGGACGGTGAGAGAAAATAAAGGAGGGGCAGGAGGAGAGAAGGGAGAAGAAGACACGGAAAGGGAGGGAAAGGGAAGAAAAGACAGACAGGAAGGGAGGGAGATAAAAACAGAGACAGGGAGAGGAAATGAGAGGAGGCAGAGAGGGAAATAAGAGGGCGCGGGGTGGGGAAGGCAGAGTTAGAAACAGAGGAGAGAGGCCAGAGGAGAAGGAAACACCACGAGGAAGGGAGGAGGAGAATCAGAGAGGAGGCACAGAGTTGGGGAGAAAAAGCCCCGGAGACAGGGACCAAAGCAGGGGGGTCAGAGAGAGAGACAGAGACACACACACACTCACACACATACATACACACACAGAGATACACACAGAGGTACGAAGACACACACACATATACAGACACACAGAGACAGACACATACACAGACACGCAGAGACAGACACACAGATACACGGATACAGACACACAAAGACAGACACGCACACACAGATACACACAAAGACACAGATACACAGACACAGATACAGACATACACACAGAGATACACGGAGATATGCAGATACACACACAGACACACAGAGACAGACACATACACACAGACACAGAGAAAGACACACAGATACATACACACAGATACATAGACACACACAGACACACACACACACAAACACAGATATACACACACAGAGATAGACACACACATAGACACACACACACAGACACAGACACAGATACAGACACACACAAACACAGACACACACACACAGATACAGACACACACAGATACACAGATACAGACACACACAGATACACAGATACAGACACACACATACAGATACAGACACACAGATACAGACACACATGACACACAGTCACACAACACATACATACACGACACACACTCACACACATACGATACAATCACACAACACAGGGTGAGACTGCCCAATGGTGAAGGGGGAGAGAATGAAAACCCAAGGACCGCCTCTCAGAGACAGCTCGAGCTCGGCCAAGGCAGGAAGCTGGAGCCACCTCCTGTACCGCCAGGAGTTCTCCAGGCTCCAGACATGTTCCCAGACCCCAGGGGCCCCCACCCCGAGACCCCAGAACCCCCACACCGCAGGGCTTGTCAGCTCCCAGGCCTGGGGTGTGGCCCACCTGGCTTGTCTCCGACCATGTGGAGCACTCGAGCCTGGCTCTCATCCCCGACGGGCTGCAGGGAGACAGCAGGAGTCACGGAAAGGTGGCACTAGGTGGGCCCCTGGCCTCCCTGCCACCCAGCACGGTGCTCACCACGTCTGGGTGGGTCTGGTTGGGCAGCTTCAGCGCCTGCAGGTAGAACTGCTCCTCAAGCTGGGCCTCCCTGGGGTACAGGTGAACAAGCTCCTTCCGGATCTCCCGGCCACGTGCCCGCAGACCCTGGTACTTGGGGTCCTGGGGGCAGCACAGGTGGGCTCAGCCCGGGAGAGGGTCAGGACTCCCTCATCCAGTGTGACCTTGATCCTGACCGGCAGAGCCCCTGTGGTGGACATTCATGCCTCTTCTCCAGGCCCAGGATCCTGAACGTCTTCGCAGAACTTCCCTTACCACCACATGGCAGGTTTGTGGGGAAAAGAATCAGGCCTGGCCAACTAGAACGTTCTATTGCCTTGGCCACAATGACTGGCTCAGAGACAGGCACCTGATGTCAGCTGAACTCATGAGAATCAGCCCCAGGACTTTAACTGGAACTATCAGGAAAGCGTGCTTGACTTTGCCTCCTACTTACACAAGGAGAGAAAGCTGGCCTGGGAATGGGAGGAACGTAGGACCAAATATGGAGCCAGCACCTGGATCCAGCCGCACCTGAAGCCAGTTTTAGTTTCATGCATCAATAGAGCCTATTTTTTTTTTTCCCCTTAAACCTGTTTGAGTTGTTTTCTGTTACAATAGTAGAATCGTGACTGGCAGGGTATCCTCCCTGCCCACCCCCAACCCTGGATAGGACATCAACTCTTCACAGTACCTGCTGCACTTCACCACTGTCCTGGTTTGCCTGGTAGAAAAGAGACAGGGTGGGTGATTAGGTTGACAAAGTCGAGGGTGGGGAAGAGAAAAAATGGTGAAAGGTCAAACAAGGCCAGAGGATCTTAGTCTCCTGCTCTGTCAGTGCCTAGCTGGGTCCCTCTGCAACTCTGTGTTTCTGTTTCTCTATTGCTAACGCTACAAGGAGGCAAGATAATTAACAGTAATCACAGCCGCAGATCCGTATAGGAAGTGATGCCTCCATGCCAGGCTCTATGTACAGGGCTCTCCCATGCCATGATTTCTTCAAAATCCACTTTAGGAGGTAGGCATTCGTGTAAACCCTGTGATATGGTTTGGCTGTGTCTCCACCCAAATAATATCTCAAATTGTAATTCCACCTGTTGAGGAAGGGACCTGGTGGGAGGTGATCGGGTCCTGGGGGCGGTTTCCCCCATGCTGTTATCCTGATAGTGAGTTCTCACGAGATCTGATGGTTTAAAAGCATTTGGCAGTTACCCCCTGTGGCTGTCTCCAGCCACCATGTGGAAGGGAAAGTGCCTTGCTTCCCCTTCCGCCATGATTTTAAGTTTCCTGAGGCCTCCCAGCCATATGGAACTGTGAGTCAATTAAACCTCTTTTCTTTATAAATTACCCAGTCTCAGGTATTCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGATCGGCTAATTTTTTTTGTATTTTTCGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGATCTCAGGTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAGGTTTTCTTTATAGCAGTGTGAAAATGGGGCCAGGCGTGGTGGTTCACAAATGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGCCAGCAGTTGGAGAGCAGCCTGGCCAACATGGAGAAACCTCATCTCTAAAACCTTGTACTAAAAATACAAAAATCAGGCCGGGCTTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTCTCTACTAAAAATACAGAAAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTACAGTGAGCCGAGATAGTGCCACTGCAGTCTGGCCTAGGTGGAAGAGCGAGACTCAGTCTCAAAAAAAAATTAGCTGGGTGCAGTGGCACGTGCCTGTAATCCCAGCGACTCAGGAGGCTGAGGCACGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTACTCTGGTCTGGGTGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAGAAGAAAATGGACTAATAT
|
benign
| 304,574 |
Gene DLL3 (delta like canonical Notch ligand 3) variant at chromosome 19, position 39500628—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Spondylocostal_dysostosis_1,_autosomal_recessive']
|
CACACAACTCCAGGCGTATGCTGAGCCGCACAGTCCCACGTGGACTCACAATGACAAAGTCATGTGCACCCTCCGGTAGCTCTGGTTCATACCACACACACAAAATCTTAAAATCATGTACAACCTCACACACAGGCTTAGCCCCCTAACCCCACCCCACCCTAGCCACACAAAAAGTCGCGGGATCACCCACGCATGACCTCGCTCGTGCCCACGACCACAGACGGAATCTCGCTGTTGCTCCTGCACGCTCCCCCTCCCCTGTGACCGCCCCCCCCGCCCCGCCCTTGGTCCCTTGGGGCCGGGTAGCTGCCTGAAGGGGCGGGGCCATTCTCTCAGATATAAGGCTTGGAAGCCAGCAGCTGCGACTCCCGAGACCCCCCCACCAGAAGGCCATGGTCTCCCCACGGATGTCCGGGCTCCTCTCCCAGACTGTGATCCTAGCGCTCATTTTCCTCCCCCAGGTCAGAGCCAGGTGGGAGGTGGCGTGGAAAGGGATGAATGCGGAGGGGAGGGGTGAGTGCGACCTGAAGGTCCTGGGGAAGGAGCGTGGGGCGGACGGGAAGCCTGGGTCCTCCCGGCCGCCTCACCCTGCGCCCGTCTCCGTCCCAGACACGGCCCGCTGGCGTCTTCGAGCTGCAGATCCACTCTTTCGGGCCGGGTCCAGGCCCTGGGGCCCCGCGGTCCCCCTGCAGCGCCCGGCTCCCCTGCCGCCTCTTCTTCAGAGTCTGCCTGAAGCCTGGGCTCTCAGAGGAGGCCGCCGAGTCCCCGTGCGCCCTGGGCGCGGCGCTGAGTGCGCGCGGACCGGTCTACACCGAGCAGCCCGGAGCGCCCGCGCCTGATCTCCCACTGCCCGACGGCCTCTTGCAGGTGCCCTTCCGGGACGCCTGGCCTGTAAGTGCTGCCCCCGGGGGACTCCCGGTGCTGGAGGCCTAACCCTGCCAGCGAAACCTCCACCTCCTCTCCCCTCCAGCTTCCAAGACCCTAATCCTGCCTCCCAGGGGGTGGACGAAATTCCCAGACCAGTAACTCTACCGTCTGGAACCCCACATTCACAGACCTCTAAACTCTACACACTGGGGATTCTAAATGTTCTGATTCCCCAACCCTGGATGCTGGGACCCCAAATTCCCAGAATTTCAAACCCAAGCTCTGAAATCCTAAACTCAAGGAACCCTACCTCTGCTCCTTGGGGATCCCTAAAAACTGTGGTCCTCATCTTTATCCCCAAACCTCTCACACCTTGTCTTGGGGACCACTAATATCTTCTCTCTCTTTTTTTTTTTTTTTCTGTCCTCAGTTCTTTCAGTTGGGTCCTGTATTAATTACTCTTTCACCTCCAAAATCCTGTCTCCCACCCCCACAACCCAAAGGCACAAAGATGAACAGACCTGTATTGCAATGCTTGACCCTTGTCCTTTTGGACAAGTGACTGCCTGGTTTCCAGCCTCAGTTTCCTAAGCTTAAAAATGGGATCATCCTGGTACCTCACAAGGGTCCCTTTTGAGCGATTCAACCACATCTCTTGAATAAAGTGCTTACCACGTAGTAAGTGCTCAATAAAGCAAGCCACGTCCAGTCGCTCACACTGTAATTCCAGCACTTTGGGAGGTCTAGGCAGGAGGATCTCCTGAGCCCGGCAGTTTGAGACCAGTCTCAGTAACATAGTGAGACCTCGTTTCTAAAAAAAAAAAAAAAACATAGCAGGGCATGGTGACATGCGCGTGTAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTCGGAGGTTGTTGCAGTGAGCCAAGATTGCGCCAGTGCACTCCAGCCTGGTTGACAAAGTGAGATTCTCCCCCCCCCCCCAAAAAAAAGCCACAGATGTCATTCCCTCCCTGGGCTGGTCTGGTCCCTCTGGGAATTGTCCCTTGCTTGCTCAGTCCCCAGCAATGGCCATCACCCTCCATTCCTGAACTCTGGCCTTCATTGAGTACTTACCCTAACCACTGTCTTTCATCTTTCATCTCCCCCTTCCTTCACCCAACCAGGGCACCTTCTCTTTCATCATCGAAACCTGGAGAGAGGAGTTAGGAGACCAGATTGGAGGTGAGTGTCTTCAGTCTTGGGACTGGTGGGGAGCTGGGGCCCACGTGAGACACGGGGTTGGTGGTGTTATCTATAGGTCTTATGATGTCATCACAGCTCCTGGGATGTGGTGCTGAGTGTTGACAGCTCCAGGGCTCTTGGCATCTCAGGCACAGAAATGTCCCTGGTACTGGATGTAGCAGTGGTTCTGGTACCAGACGAAGTAGGGGAAGCTCTCTTACTATCAAGGCTCCAGAGCAGAGTGTAGCATTTCACAGCCCTACCTTATCATCTGATGTTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACCACGCTCGGCCCCTATGTGAAGCTCTGTCACCTTGTCCATGTGGACATCCCAGGGAGCCCCGTGGGATGTTGGAGCTTCACCAAGGCGAATATTGAGCAGAGGTTCCTGGGAGGGATACAGGGCATTCCTATCCTCAACTTGGGAGACTCTGTTGCTATGTAAGGCCCACAGCGGGGGTTTTGTCACCATTTTTTTTCTTGTTTTTATTTTTTATGGACATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCACAGGCTTTGGCTTCCCAAAACGTTGGGATTATAGGAGTGAGCCACTTCTTCACCGTTCTGATGTAGAAAGCTGTGTCACAATCTTGGGGGGTGACACCTTTGCCTTCAAGAAAGTGTCACTCTCCCAGTATCCCAAGGTCTCAGGTAATGTGGTAACTTATGGTCTAGTAACTGGGGTCTCTGTGACTATTTTGATATAGGAAGATCCAGAGGCACAATTTAGGGGTGTTATGACCTCACTTCAGACATGTTATTGTTCTTTGGCCATATGGAGGTACCAAATGTCACAGGGTGTTAGAGGTCTCATCATTACTTCAATTTACAAAGATCTGGGTCAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCACACCACTACGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCGCAAAAAACAAACAAAAAAAAAACAAATATCTGGGTCAAAATACAGGAGTATTACGGTTTCTATGAGATAACTGTTTATTTTTTATTTTTATTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCCGATCTCGGCTCACTGCAACCTCCACTTCTGGGTGCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTTTAAAGAATTTTTTATTTTTAGTAGAGACGGTTTCACCATGTTGATCAGGCTGGTCTTGACCTCAGGTGGTCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCCACCATGCTTGGCTGAGAGAAATGTTACCTAGAGTACTAGAAAGGACCACGACATTGCAGGTCCCAGGGTGCATTGGGGAGTTCGCAGCCTTGCTAAAGTAGAGGGTGACTGCCATTCTACTCGC
|
CACACAACTCCAGGCGTATGCTGAGCCGCACAGTCCCACGTGGACTCACAATGACAAAGTCATGTGCACCCTCCGGTAGCTCTGGTTCATACCACACACACAAAATCTTAAAATCATGTACAACCTCACACACAGGCTTAGCCCCCTAACCCCACCCCACCCTAGCCACACAAAAAGTCGCGGGATCACCCACGCATGACCTCGCTCGTGCCCACGACCACAGACGGAATCTCGCTGTTGCTCCTGCACGCTCCCCCTCCCCTGTGACCGCCCCCCCCGCCCCGCCCTTGGTCCCTTGGGGCCGGGTAGCTGCCTGAAGGGGCGGGGCCATTCTCTCAGATATAAGGCTTGGAAGCCAGCAGCTGCGACTCCCGAGACCCCCCCACCAGAAGGCCATGGTCTCCCCACGGATGTCCGGGCTCCTCTCCCAGACTGTGATCCTAGCGCTCATTTTCCTCCCCCAGGTCAGAGCCAGGTGGGAGGTGGCGTGGAAAGGGATGAATGCGGAGGGGAGGGGTGAGTGCGACCTGAAGGTCCTGGGGAAGGAGCGTGGGGCGGACGGGAAGCCTGGGTCCTCCCGGCCGCCTCACCCTGCGCCCGTCTCCGTCCCAGACACGGCCCGCTGGCGTCTTCGAGCTGCAGATCCACTCTTTCGGGCCGGGTCCAGGCCCTGGGGCCCCGCGGTCCCCCTGCAGCGCCCGGCTCCCCTGCCGCCTCTTCTTCAGAGTCTGCCTGAAGCCTGGGCTCTCAGAGGAGGCCGCCGAGTCCCCGTGCGCCCTGGGCGCGGCGCTGAGTGCGCGCGGACCGGTCTACACCGAGCAGCCCGGAGCGCCCGCGCCTGATCTCCCACTGCCCGACGGCCTCTTGCAGGTGCCCTTCCGGGACGCCTGGCCTGTAAGTGCTGCCCCCGGGGGACTCCCGGTGCTGGAGGCCTAACCCTGCCAGCGAAACCTCCACCTCCTCTCCCCTCCAGCTTCCAAGACCCTAATCCTGCCTCCCAGGGGGTGGACGAAATTCCCAGACCAGTAACTCTACCGTCTGGAACCCCACATTCACAGACCTCTAAACTCTACACACTGGGGATTCTAAATGTTCTGATTCCCCAACCCTGGATGCTGGGACCCCAAATTCCCAGAATTTCAAACCCAAGCTCTGAAATCCTAAACTCAAGGAACCCTACCTCTGCTCCTTGGGGATCCCTAAAAACTGTGGTCCTCATCTTTATCCCCAAACCTCTCACACCTTGTCTTGGGGACCACTAATATCTTCTCTCTCTTTTTTTTTTTTTTTCTGTCCTCAGTTCTTTCAGTTGGGTCCTGTATTAATTACTCTTTCACCTCCAAAATCCTGTCTCCCACCCCCACAACCCAAAGGCACAAAGATGAACAGACCTGTATTGCAATGCTTGACCCTTGTCCTTTTGGACAAGTGACTGCCTGGTTTCCAGCCTCAGTTTCCTAAGCTTAAAAATGGGATCATCCTGGTACCTCACAAGGGTCCCTTTTGAGCGATTCAACCACATCTCTTGAATAAAGTGCTTACCACGTAGTAAGTGCTCAATAAAGCAAGCCACGTCCAGTCGCTCACACTGTAATTCCAGCACTTTGGGAGGTCTAGGCAGGAGGATCTCCTGAGCCCGGCAGTTTGAGACCAGTCTCAGTAACATAGTGAGACCTCGTTTCTAAAAAAAAAAAAAAAACATAGCAGGGCATGGTGACATGCGCGTGTAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTCGGAGGTTGTTGCAGTGAGCCAAGATTGCGCCAGTGCACTCCAGCCTGGTTGACAAAGTGAGATTCTCCCCCCCCCCCCAAAAAAAAGCCACAGATGTCATTCCCTCCCTGGGCTGGTCTGGTCCCTCTGGGAATTGTCCCTTGCTTGCTCAGTCCCCAGCAATGGCCATCACCCTCCATTCCTGAACTCTGGCCTTCATTGAGTACTTACCCTAACCACTGTCTTTCATCTTTCATCTCCCCCTTCCTTCACCCAACCAGGGCACCTTCTCTTTTGGAGAGAGGAGTTAGGAGACCAGATTGGAGGTGAGTGTCTTCAGTCTTGGGACTGGTGGGGAGCTGGGGCCCACGTGAGACACGGGGTTGGTGGTGTTATCTATAGGTCTTATGATGTCATCACAGCTCCTGGGATGTGGTGCTGAGTGTTGACAGCTCCAGGGCTCTTGGCATCTCAGGCACAGAAATGTCCCTGGTACTGGATGTAGCAGTGGTTCTGGTACCAGACGAAGTAGGGGAAGCTCTCTTACTATCAAGGCTCCAGAGCAGAGTGTAGCATTTCACAGCCCTACCTTATCATCTGATGTTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACCACGCTCGGCCCCTATGTGAAGCTCTGTCACCTTGTCCATGTGGACATCCCAGGGAGCCCCGTGGGATGTTGGAGCTTCACCAAGGCGAATATTGAGCAGAGGTTCCTGGGAGGGATACAGGGCATTCCTATCCTCAACTTGGGAGACTCTGTTGCTATGTAAGGCCCACAGCGGGGGTTTTGTCACCATTTTTTTTCTTGTTTTTATTTTTTATGGACATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCACAGGCTTTGGCTTCCCAAAACGTTGGGATTATAGGAGTGAGCCACTTCTTCACCGTTCTGATGTAGAAAGCTGTGTCACAATCTTGGGGGGTGACACCTTTGCCTTCAAGAAAGTGTCACTCTCCCAGTATCCCAAGGTCTCAGGTAATGTGGTAACTTATGGTCTAGTAACTGGGGTCTCTGTGACTATTTTGATATAGGAAGATCCAGAGGCACAATTTAGGGGTGTTATGACCTCACTTCAGACATGTTATTGTTCTTTGGCCATATGGAGGTACCAAATGTCACAGGGTGTTAGAGGTCTCATCATTACTTCAATTTACAAAGATCTGGGTCAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCACACCACTACGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCGCAAAAAACAAACAAAAAAAAAACAAATATCTGGGTCAAAATACAGGAGTATTACGGTTTCTATGAGATAACTGTTTATTTTTTATTTTTATTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCCGATCTCGGCTCACTGCAACCTCCACTTCTGGGTGCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTTTAAAGAATTTTTTATTTTTAGTAGAGACGGTTTCACCATGTTGATCAGGCTGGTCTTGACCTCAGGTGGTCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCCACCATGCTTGGCTGAGAGAAATGTTACCTAGAGTACTAGAAAGGACCACGACATTGCAGGTCCCAGGGTGCATTGGGGAGTTCGCAGCCTTGCTAAAGTAGAGGGTGACTGCCATTCTACTCGCNNNNNNNNNNNNN
|
pathogenic
| 304,689 |
Is the genetic change at chromosome 19, position 39500656, within gene DLL3 (delta like canonical Notch ligand 3) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Spondylocostal_dysostosis_1,_autosomal_recessive']
|
CACAGTCCCACGTGGACTCACAATGACAAAGTCATGTGCACCCTCCGGTAGCTCTGGTTCATACCACACACACAAAATCTTAAAATCATGTACAACCTCACACACAGGCTTAGCCCCCTAACCCCACCCCACCCTAGCCACACAAAAAGTCGCGGGATCACCCACGCATGACCTCGCTCGTGCCCACGACCACAGACGGAATCTCGCTGTTGCTCCTGCACGCTCCCCCTCCCCTGTGACCGCCCCCCCCGCCCCGCCCTTGGTCCCTTGGGGCCGGGTAGCTGCCTGAAGGGGCGGGGCCATTCTCTCAGATATAAGGCTTGGAAGCCAGCAGCTGCGACTCCCGAGACCCCCCCACCAGAAGGCCATGGTCTCCCCACGGATGTCCGGGCTCCTCTCCCAGACTGTGATCCTAGCGCTCATTTTCCTCCCCCAGGTCAGAGCCAGGTGGGAGGTGGCGTGGAAAGGGATGAATGCGGAGGGGAGGGGTGAGTGCGACCTGAAGGTCCTGGGGAAGGAGCGTGGGGCGGACGGGAAGCCTGGGTCCTCCCGGCCGCCTCACCCTGCGCCCGTCTCCGTCCCAGACACGGCCCGCTGGCGTCTTCGAGCTGCAGATCCACTCTTTCGGGCCGGGTCCAGGCCCTGGGGCCCCGCGGTCCCCCTGCAGCGCCCGGCTCCCCTGCCGCCTCTTCTTCAGAGTCTGCCTGAAGCCTGGGCTCTCAGAGGAGGCCGCCGAGTCCCCGTGCGCCCTGGGCGCGGCGCTGAGTGCGCGCGGACCGGTCTACACCGAGCAGCCCGGAGCGCCCGCGCCTGATCTCCCACTGCCCGACGGCCTCTTGCAGGTGCCCTTCCGGGACGCCTGGCCTGTAAGTGCTGCCCCCGGGGGACTCCCGGTGCTGGAGGCCTAACCCTGCCAGCGAAACCTCCACCTCCTCTCCCCTCCAGCTTCCAAGACCCTAATCCTGCCTCCCAGGGGGTGGACGAAATTCCCAGACCAGTAACTCTACCGTCTGGAACCCCACATTCACAGACCTCTAAACTCTACACACTGGGGATTCTAAATGTTCTGATTCCCCAACCCTGGATGCTGGGACCCCAAATTCCCAGAATTTCAAACCCAAGCTCTGAAATCCTAAACTCAAGGAACCCTACCTCTGCTCCTTGGGGATCCCTAAAAACTGTGGTCCTCATCTTTATCCCCAAACCTCTCACACCTTGTCTTGGGGACCACTAATATCTTCTCTCTCTTTTTTTTTTTTTTTCTGTCCTCAGTTCTTTCAGTTGGGTCCTGTATTAATTACTCTTTCACCTCCAAAATCCTGTCTCCCACCCCCACAACCCAAAGGCACAAAGATGAACAGACCTGTATTGCAATGCTTGACCCTTGTCCTTTTGGACAAGTGACTGCCTGGTTTCCAGCCTCAGTTTCCTAAGCTTAAAAATGGGATCATCCTGGTACCTCACAAGGGTCCCTTTTGAGCGATTCAACCACATCTCTTGAATAAAGTGCTTACCACGTAGTAAGTGCTCAATAAAGCAAGCCACGTCCAGTCGCTCACACTGTAATTCCAGCACTTTGGGAGGTCTAGGCAGGAGGATCTCCTGAGCCCGGCAGTTTGAGACCAGTCTCAGTAACATAGTGAGACCTCGTTTCTAAAAAAAAAAAAAAAACATAGCAGGGCATGGTGACATGCGCGTGTAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTCGGAGGTTGTTGCAGTGAGCCAAGATTGCGCCAGTGCACTCCAGCCTGGTTGACAAAGTGAGATTCTCCCCCCCCCCCCAAAAAAAAGCCACAGATGTCATTCCCTCCCTGGGCTGGTCTGGTCCCTCTGGGAATTGTCCCTTGCTTGCTCAGTCCCCAGCAATGGCCATCACCCTCCATTCCTGAACTCTGGCCTTCATTGAGTACTTACCCTAACCACTGTCTTTCATCTTTCATCTCCCCCTTCCTTCACCCAACCAGGGCACCTTCTCTTTCATCATCGAAACCTGGAGAGAGGAGTTAGGAGACCAGATTGGAGGTGAGTGTCTTCAGTCTTGGGACTGGTGGGGAGCTGGGGCCCACGTGAGACACGGGGTTGGTGGTGTTATCTATAGGTCTTATGATGTCATCACAGCTCCTGGGATGTGGTGCTGAGTGTTGACAGCTCCAGGGCTCTTGGCATCTCAGGCACAGAAATGTCCCTGGTACTGGATGTAGCAGTGGTTCTGGTACCAGACGAAGTAGGGGAAGCTCTCTTACTATCAAGGCTCCAGAGCAGAGTGTAGCATTTCACAGCCCTACCTTATCATCTGATGTTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACCACGCTCGGCCCCTATGTGAAGCTCTGTCACCTTGTCCATGTGGACATCCCAGGGAGCCCCGTGGGATGTTGGAGCTTCACCAAGGCGAATATTGAGCAGAGGTTCCTGGGAGGGATACAGGGCATTCCTATCCTCAACTTGGGAGACTCTGTTGCTATGTAAGGCCCACAGCGGGGGTTTTGTCACCATTTTTTTTCTTGTTTTTATTTTTTATGGACATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCACAGGCTTTGGCTTCCCAAAACGTTGGGATTATAGGAGTGAGCCACTTCTTCACCGTTCTGATGTAGAAAGCTGTGTCACAATCTTGGGGGGTGACACCTTTGCCTTCAAGAAAGTGTCACTCTCCCAGTATCCCAAGGTCTCAGGTAATGTGGTAACTTATGGTCTAGTAACTGGGGTCTCTGTGACTATTTTGATATAGGAAGATCCAGAGGCACAATTTAGGGGTGTTATGACCTCACTTCAGACATGTTATTGTTCTTTGGCCATATGGAGGTACCAAATGTCACAGGGTGTTAGAGGTCTCATCATTACTTCAATTTACAAAGATCTGGGTCAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCACACCACTACGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCGCAAAAAACAAACAAAAAAAAAACAAATATCTGGGTCAAAATACAGGAGTATTACGGTTTCTATGAGATAACTGTTTATTTTTTATTTTTATTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCCGATCTCGGCTCACTGCAACCTCCACTTCTGGGTGCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTTTAAAGAATTTTTTATTTTTAGTAGAGACGGTTTCACCATGTTGATCAGGCTGGTCTTGACCTCAGGTGGTCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCCACCATGCTTGGCTGAGAGAAATGTTACCTAGAGTACTAGAAAGGACCACGACATTGCAGGTCCCAGGGTGCATTGGGGAGTTCGCAGCCTTGCTAAAGTAGAGGGTGACTGCCATTCTACTCGCGAGGTCCAAGGACCCCAGGGCTCCATGA
|
CACAGTCCCACGTGGACTCACAATGACAAAGTCATGTGCACCCTCCGGTAGCTCTGGTTCATACCACACACACAAAATCTTAAAATCATGTACAACCTCACACACAGGCTTAGCCCCCTAACCCCACCCCACCCTAGCCACACAAAAAGTCGCGGGATCACCCACGCATGACCTCGCTCGTGCCCACGACCACAGACGGAATCTCGCTGTTGCTCCTGCACGCTCCCCCTCCCCTGTGACCGCCCCCCCCGCCCCGCCCTTGGTCCCTTGGGGCCGGGTAGCTGCCTGAAGGGGCGGGGCCATTCTCTCAGATATAAGGCTTGGAAGCCAGCAGCTGCGACTCCCGAGACCCCCCCACCAGAAGGCCATGGTCTCCCCACGGATGTCCGGGCTCCTCTCCCAGACTGTGATCCTAGCGCTCATTTTCCTCCCCCAGGTCAGAGCCAGGTGGGAGGTGGCGTGGAAAGGGATGAATGCGGAGGGGAGGGGTGAGTGCGACCTGAAGGTCCTGGGGAAGGAGCGTGGGGCGGACGGGAAGCCTGGGTCCTCCCGGCCGCCTCACCCTGCGCCCGTCTCCGTCCCAGACACGGCCCGCTGGCGTCTTCGAGCTGCAGATCCACTCTTTCGGGCCGGGTCCAGGCCCTGGGGCCCCGCGGTCCCCCTGCAGCGCCCGGCTCCCCTGCCGCCTCTTCTTCAGAGTCTGCCTGAAGCCTGGGCTCTCAGAGGAGGCCGCCGAGTCCCCGTGCGCCCTGGGCGCGGCGCTGAGTGCGCGCGGACCGGTCTACACCGAGCAGCCCGGAGCGCCCGCGCCTGATCTCCCACTGCCCGACGGCCTCTTGCAGGTGCCCTTCCGGGACGCCTGGCCTGTAAGTGCTGCCCCCGGGGGACTCCCGGTGCTGGAGGCCTAACCCTGCCAGCGAAACCTCCACCTCCTCTCCCCTCCAGCTTCCAAGACCCTAATCCTGCCTCCCAGGGGGTGGACGAAATTCCCAGACCAGTAACTCTACCGTCTGGAACCCCACATTCACAGACCTCTAAACTCTACACACTGGGGATTCTAAATGTTCTGATTCCCCAACCCTGGATGCTGGGACCCCAAATTCCCAGAATTTCAAACCCAAGCTCTGAAATCCTAAACTCAAGGAACCCTACCTCTGCTCCTTGGGGATCCCTAAAAACTGTGGTCCTCATCTTTATCCCCAAACCTCTCACACCTTGTCTTGGGGACCACTAATATCTTCTCTCTCTTTTTTTTTTTTTTTCTGTCCTCAGTTCTTTCAGTTGGGTCCTGTATTAATTACTCTTTCACCTCCAAAATCCTGTCTCCCACCCCCACAACCCAAAGGCACAAAGATGAACAGACCTGTATTGCAATGCTTGACCCTTGTCCTTTTGGACAAGTGACTGCCTGGTTTCCAGCCTCAGTTTCCTAAGCTTAAAAATGGGATCATCCTGGTACCTCACAAGGGTCCCTTTTGAGCGATTCAACCACATCTCTTGAATAAAGTGCTTACCACGTAGTAAGTGCTCAATAAAGCAAGCCACGTCCAGTCGCTCACACTGTAATTCCAGCACTTTGGGAGGTCTAGGCAGGAGGATCTCCTGAGCCCGGCAGTTTGAGACCAGTCTCAGTAACATAGTGAGACCTCGTTTCTAAAAAAAAAAAAAAAACATAGCAGGGCATGGTGACATGCGCGTGTAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTCGGAGGTTGTTGCAGTGAGCCAAGATTGCGCCAGTGCACTCCAGCCTGGTTGACAAAGTGAGATTCTCCCCCCCCCCCCAAAAAAAAGCCACAGATGTCATTCCCTCCCTGGGCTGGTCTGGTCCCTCTGGGAATTGTCCCTTGCTTGCTCAGTCCCCAGCAATGGCCATCACCCTCCATTCCTGAACTCTGGCCTTCATTGAGTACTTACCCTAACCACTGTCTTTCATCTTTCATCTCCCCCTTCCTTCACCCAACCAGGGCACCTTCTCTTTCATCATCGAAACCTGGAGAGAGGAGTTAGAGACCAGATTGGAGGTGAGTGTCTTCAGTCTTGGGACTGGTGGGGAGCTGGGGCCCACGTGAGACACGGGGTTGGTGGTGTTATCTATAGGTCTTATGATGTCATCACAGCTCCTGGGATGTGGTGCTGAGTGTTGACAGCTCCAGGGCTCTTGGCATCTCAGGCACAGAAATGTCCCTGGTACTGGATGTAGCAGTGGTTCTGGTACCAGACGAAGTAGGGGAAGCTCTCTTACTATCAAGGCTCCAGAGCAGAGTGTAGCATTTCACAGCCCTACCTTATCATCTGATGTTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACCACGCTCGGCCCCTATGTGAAGCTCTGTCACCTTGTCCATGTGGACATCCCAGGGAGCCCCGTGGGATGTTGGAGCTTCACCAAGGCGAATATTGAGCAGAGGTTCCTGGGAGGGATACAGGGCATTCCTATCCTCAACTTGGGAGACTCTGTTGCTATGTAAGGCCCACAGCGGGGGTTTTGTCACCATTTTTTTTCTTGTTTTTATTTTTTATGGACATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCACAGGCTTTGGCTTCCCAAAACGTTGGGATTATAGGAGTGAGCCACTTCTTCACCGTTCTGATGTAGAAAGCTGTGTCACAATCTTGGGGGGTGACACCTTTGCCTTCAAGAAAGTGTCACTCTCCCAGTATCCCAAGGTCTCAGGTAATGTGGTAACTTATGGTCTAGTAACTGGGGTCTCTGTGACTATTTTGATATAGGAAGATCCAGAGGCACAATTTAGGGGTGTTATGACCTCACTTCAGACATGTTATTGTTCTTTGGCCATATGGAGGTACCAAATGTCACAGGGTGTTAGAGGTCTCATCATTACTTCAATTTACAAAGATCTGGGTCAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCACACCACTACGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCGCAAAAAACAAACAAAAAAAAAACAAATATCTGGGTCAAAATACAGGAGTATTACGGTTTCTATGAGATAACTGTTTATTTTTTATTTTTATTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCCGATCTCGGCTCACTGCAACCTCCACTTCTGGGTGCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTTTAAAGAATTTTTTATTTTTAGTAGAGACGGTTTCACCATGTTGATCAGGCTGGTCTTGACCTCAGGTGGTCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCCACCATGCTTGGCTGAGAGAAATGTTACCTAGAGTACTAGAAAGGACCACGACATTGCAGGTCCCAGGGTGCATTGGGGAGTTCGCAGCCTTGCTAAAGTAGAGGGTGACTGCCATTCTACTCGCGAGGTCCAAGGACCCCAGGGCTCCATGAN
|
pathogenic
| 304,692 |
Variant chromosome 19, position 39502930, gene DLL3: benign or pathogenic? Disease(s)?
|
pathogenic; ['DLL3-related_disorder']
|
AAGCTCTCTTACTATCAAGGCTCCAGAGCAGAGTGTAGCATTTCACAGCCCTACCTTATCATCTGATGTTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACCACGCTCGGCCCCTATGTGAAGCTCTGTCACCTTGTCCATGTGGACATCCCAGGGAGCCCCGTGGGATGTTGGAGCTTCACCAAGGCGAATATTGAGCAGAGGTTCCTGGGAGGGATACAGGGCATTCCTATCCTCAACTTGGGAGACTCTGTTGCTATGTAAGGCCCACAGCGGGGGTTTTGTCACCATTTTTTTTCTTGTTTTTATTTTTTATGGACATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCACAGGCTTTGGCTTCCCAAAACGTTGGGATTATAGGAGTGAGCCACTTCTTCACCGTTCTGATGTAGAAAGCTGTGTCACAATCTTGGGGGGTGACACCTTTGCCTTCAAGAAAGTGTCACTCTCCCAGTATCCCAAGGTCTCAGGTAATGTGGTAACTTATGGTCTAGTAACTGGGGTCTCTGTGACTATTTTGATATAGGAAGATCCAGAGGCACAATTTAGGGGTGTTATGACCTCACTTCAGACATGTTATTGTTCTTTGGCCATATGGAGGTACCAAATGTCACAGGGTGTTAGAGGTCTCATCATTACTTCAATTTACAAAGATCTGGGTCAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCACACCACTACGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCGCAAAAAACAAACAAAAAAAAAACAAATATCTGGGTCAAAATACAGGAGTATTACGGTTTCTATGAGATAACTGTTTATTTTTTATTTTTATTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCCGATCTCGGCTCACTGCAACCTCCACTTCTGGGTGCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTTTAAAGAATTTTTTATTTTTAGTAGAGACGGTTTCACCATGTTGATCAGGCTGGTCTTGACCTCAGGTGGTCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCCACCATGCTTGGCTGAGAGAAATGTTACCTAGAGTACTAGAAAGGACCACGACATTGCAGGTCCCAGGGTGCATTGGGGAGTTCGCAGCCTTGCTAAAGTAGAGGGTGACTGCCATTCTACTCGCGAGGTCCAAGGACCCCAGGGCTCCATGAGGGTGTTTTGGCCTCGCTGGGAGGGGCGGGGAGAATGCGGCCGGGGCGCTCCGTATGCATCCATGTTCGGCCGGGCCCACCCCAGCACCCCTCCTTTGCCTGTCCTCGCAGGGCCCGCCTGGAGCCTGCTGGCGCGCGTGGCTGGCAGGCGGCGCTTGGCAGCCGGAGGCCCGTGGGCCCGGGACATTCAGCGCGCAGGCGCCTGGGAGCTGCGCTTCTCGTACCGCGCGCGCTGCGAGCCGCCTGCCGTCGGGACCGCGTGCACGCGCCTCTGCCGTCCGCGCAGCGCCCCCTCGCGGTGCGGTCCGGGACTGCGCCCCTGCGCACCGCTCGAGGACGAATGTGAGGCGCCGCGTGAGTCCTGCGTTCGACCCCACCCCGTCCCAGCCGGGGACCCCGGCCCCTCCTGAGCGTCACTCGCGGCCCCCAGTCCCCTCTCACAACCCACTCACCCTCTTCAGGGTACTCTAGAGTCCCCCACCATGTACCCCAGGCACCCCTCTTCAGGGAGCTGGGGAACGCGCTGACTGCTGCGGATGTATCCCAAACCCCGCCCACCATCCAGCTGCCACCTTCGGAGAAACTGAGGACCCTGGACCTCTCTCCAGCCCTGCCTTGCTACTCGAGCCCCCTTCCCTCTCCCAGCCCTCTTGTTGCCCCAAATCGGAAGCCCACGTCCATTTTCTATGCTGGCACCCTCCAGTTCCTTCCCTAACCCACATTCACACCCTGTCCTGATGCTAGGACTCCAAAGCTCTTCTAATTCTGCGGCCCTCCCGACTCCCACTCGGAAGCTTTGGAATCTCCTCCCAGTCCACTCTGGCCAAGGGGCCCTCCATCCTCCCTCCCTAGGGTTGCAGGCCAGAACCCATGGCTTCTTAAAGCTTGGAATTCTTCAGACTTCTCCCCAAATTTCAGAGCCCCACCAAGGCCCCTAGGACTCCCAGGCTAATCCAGATCTTCTCAGAGCCACCCTAATTCAATACACTCCCATCTTCCCTGAAAGGCCAGGGGTCCCCCCACCAATCCCAAATCCCCTCACTGTCTCCTATCCTCACGATCTCACCTGGGTGCCCCTGTCCCATCCTCTTTCCAAGAGCACAGACTCCAGCCCGATGGCCTGGGTTCACATCATCACTCCTCCACTTCCTAGGTGGGCTGGTCACCTCGTCTCTGTGGGCCTCAGTTTCCCTATCTGTAAACTGGGGGGGCGGTCACAGTACCATCTAGTCCCGATGATTATCTGTCACAAAGATGAAGCAAGGTGGCTCAGGGAACGTGCTCAGAAACCTCCCTGCTTTCCATCTTGTCCCTGGCCCTCCCCGACGTTGGTGTTCCCTTTCTCTCTGCCTCTCTGTCCCCCATAGTGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGGCTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACCCCTCTGCACGGTCCCTGTCTCCACCAGCAGCTGCCTCAGCCCCAGGGGCCCGTCCTCTGCTACCACCGGATGCCTTGTCCCTGGGCCTGGGCCCTGTGACGGGAACCCGTGTGCCAATGGAGGCAGCTGTAGTGTCAGTGTCACCCTTCCCACCTTGTCCTGCTTAGTACTTTACCCTGGGAGCCACAGCCCTCTCCCTGGGGCTCCATGAGACACCAGCCTGGGGAGGAGATCTGGGAATAACTATCAGGGAGGTCTTCCTGGAGGCATCCAGCCGGCATCTGGGGCCTTGAAGTAGGATTAGGTGATGGGGATGGGACTGGGGAGAGCAGGCTCAGTGGGTGGCCCCGAAAGATGCAGGAGTGGAAATGATGAGGAGCCGTGTGGGGCCACAGCTGCCCCTACTGCGGGACTGAGAACGATTCAGGGCCCAAGGTAGTGGGTGGTGGGGCCAAATAGGTTGGAGATTTGGGATCTGCGGGCACAGGGGGTGGAGACATCAGAGAAGGCTTCCTGGAGGTGGCCCGGGGCTGGGGCTTCTGGGACGTGATTAGAGAGGGTGGCCAGGTGAGTGGCCTGCAGGGAGCAAGGGTGCAGAGGTGGCAGTGAGTGAGCCTGGCATGGAGTGCTGGGATAGAGTAGGGTCCAGTGTGGGCCACCTGGATACTGCCACACTCAGGGTTCAAATACTTAGGGAGAGGCCCTGGGAAGGAGAGATCCAGAGAAGCCTTCCTGGAGGAGGTGGGCTGAGATCTAGGACCTCCCAGTAGGACTCGTCAGTGTAGACAGAAGCGAGCAGGGCAGACCAGGCAGGCAGCATTT
|
AAGCTCTCTTACTATCAAGGCTCCAGAGCAGAGTGTAGCATTTCACAGCCCTACCTTATCATCTGATGTTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACCACGCTCGGCCCCTATGTGAAGCTCTGTCACCTTGTCCATGTGGACATCCCAGGGAGCCCCGTGGGATGTTGGAGCTTCACCAAGGCGAATATTGAGCAGAGGTTCCTGGGAGGGATACAGGGCATTCCTATCCTCAACTTGGGAGACTCTGTTGCTATGTAAGGCCCACAGCGGGGGTTTTGTCACCATTTTTTTTCTTGTTTTTATTTTTTATGGACATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCACAGGCTTTGGCTTCCCAAAACGTTGGGATTATAGGAGTGAGCCACTTCTTCACCGTTCTGATGTAGAAAGCTGTGTCACAATCTTGGGGGGTGACACCTTTGCCTTCAAGAAAGTGTCACTCTCCCAGTATCCCAAGGTCTCAGGTAATGTGGTAACTTATGGTCTAGTAACTGGGGTCTCTGTGACTATTTTGATATAGGAAGATCCAGAGGCACAATTTAGGGGTGTTATGACCTCACTTCAGACATGTTATTGTTCTTTGGCCATATGGAGGTACCAAATGTCACAGGGTGTTAGAGGTCTCATCATTACTTCAATTTACAAAGATCTGGGTCAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCACACCACTACGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCGCAAAAAACAAACAAAAAAAAAACAAATATCTGGGTCAAAATACAGGAGTATTACGGTTTCTATGAGATAACTGTTTATTTTTTATTTTTATTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCCGATCTCGGCTCACTGCAACCTCCACTTCTGGGTGCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTTTAAAGAATTTTTTATTTTTAGTAGAGACGGTTTCACCATGTTGATCAGGCTGGTCTTGACCTCAGGTGGTCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCCACCATGCTTGGCTGAGAGAAATGTTACCTAGAGTACTAGAAAGGACCACGACATTGCAGGTCCCAGGGTGCATTGGGGAGTTCGCAGCCTTGCTAAAGTAGAGGGTGACTGCCATTCTACTCGCGAGGTCCAAGGACCCCAGGGCTCCATGAGGGTGTTTTGGCCTCGCTGGGAGGGGCGGGGAGAATGCGGCCGGGGCGCTCCGTATGCATCCATGTTCGGCCGGGCCCACCCCAGCACCCCTCCTTTGCCTGTCCTCGCAGGGCCCGCCTGGAGCCTGCTGGCGCGCGTGGCTGGCAGGCGGCGCTTGGCAGCCGGAGGCCCGTGGGCCCGGGACATTCAGCGCGCAGGCGCCTGGGAGCTGCGCTTCTCGTACCGCGCGAGCCGCCTGCCGTCGGGACCGCGTGCACGCGCCTCTGCCGTCCGCGCAGCGCCCCCTCGCGGTGCGGTCCGGGACTGCGCCCCTGCGCACCGCTCGAGGACGAATGTGAGGCGCCGCGTGAGTCCTGCGTTCGACCCCACCCCGTCCCAGCCGGGGACCCCGGCCCCTCCTGAGCGTCACTCGCGGCCCCCAGTCCCCTCTCACAACCCACTCACCCTCTTCAGGGTACTCTAGAGTCCCCCACCATGTACCCCAGGCACCCCTCTTCAGGGAGCTGGGGAACGCGCTGACTGCTGCGGATGTATCCCAAACCCCGCCCACCATCCAGCTGCCACCTTCGGAGAAACTGAGGACCCTGGACCTCTCTCCAGCCCTGCCTTGCTACTCGAGCCCCCTTCCCTCTCCCAGCCCTCTTGTTGCCCCAAATCGGAAGCCCACGTCCATTTTCTATGCTGGCACCCTCCAGTTCCTTCCCTAACCCACATTCACACCCTGTCCTGATGCTAGGACTCCAAAGCTCTTCTAATTCTGCGGCCCTCCCGACTCCCACTCGGAAGCTTTGGAATCTCCTCCCAGTCCACTCTGGCCAAGGGGCCCTCCATCCTCCCTCCCTAGGGTTGCAGGCCAGAACCCATGGCTTCTTAAAGCTTGGAATTCTTCAGACTTCTCCCCAAATTTCAGAGCCCCACCAAGGCCCCTAGGACTCCCAGGCTAATCCAGATCTTCTCAGAGCCACCCTAATTCAATACACTCCCATCTTCCCTGAAAGGCCAGGGGTCCCCCCACCAATCCCAAATCCCCTCACTGTCTCCTATCCTCACGATCTCACCTGGGTGCCCCTGTCCCATCCTCTTTCCAAGAGCACAGACTCCAGCCCGATGGCCTGGGTTCACATCATCACTCCTCCACTTCCTAGGTGGGCTGGTCACCTCGTCTCTGTGGGCCTCAGTTTCCCTATCTGTAAACTGGGGGGGCGGTCACAGTACCATCTAGTCCCGATGATTATCTGTCACAAAGATGAAGCAAGGTGGCTCAGGGAACGTGCTCAGAAACCTCCCTGCTTTCCATCTTGTCCCTGGCCCTCCCCGACGTTGGTGTTCCCTTTCTCTCTGCCTCTCTGTCCCCCATAGTGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGGCTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACCCCTCTGCACGGTCCCTGTCTCCACCAGCAGCTGCCTCAGCCCCAGGGGCCCGTCCTCTGCTACCACCGGATGCCTTGTCCCTGGGCCTGGGCCCTGTGACGGGAACCCGTGTGCCAATGGAGGCAGCTGTAGTGTCAGTGTCACCCTTCCCACCTTGTCCTGCTTAGTACTTTACCCTGGGAGCCACAGCCCTCTCCCTGGGGCTCCATGAGACACCAGCCTGGGGAGGAGATCTGGGAATAACTATCAGGGAGGTCTTCCTGGAGGCATCCAGCCGGCATCTGGGGCCTTGAAGTAGGATTAGGTGATGGGGATGGGACTGGGGAGAGCAGGCTCAGTGGGTGGCCCCGAAAGATGCAGGAGTGGAAATGATGAGGAGCCGTGTGGGGCCACAGCTGCCCCTACTGCGGGACTGAGAACGATTCAGGGCCCAAGGTAGTGGGTGGTGGGGCCAAATAGGTTGGAGATTTGGGATCTGCGGGCACAGGGGGTGGAGACATCAGAGAAGGCTTCCTGGAGGTGGCCCGGGGCTGGGGCTTCTGGGACGTGATTAGAGAGGGTGGCCAGGTGAGTGGCCTGCAGGGAGCAAGGGTGCAGAGGTGGCAGTGAGTGAGCCTGGCATGGAGTGCTGGGATAGAGTAGGGTCCAGTGTGGGCCACCTGGATACTGCCACACTCAGGGTTCAAATACTTAGGGAGAGGCCCTGGGAAGGAGAGATCCAGAGAAGCCTTCCTGGAGGAGGTGGGCTGAGATCTAGGACCTCCCAGTAGGACTCGTCAGTGTAGACAGAAGCGAGCAGGGCAGACCAGGCAGGCAGCATTTNNNNNNN
|
pathogenic
| 304,699 |
Does the chromosome 19 mutation at position 39502998 within gene DLL3 classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B', 'Spondylocostal_dysostosis_1,_autosomal_recessive']
|
TTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACCACGCTCGGCCCCTATGTGAAGCTCTGTCACCTTGTCCATGTGGACATCCCAGGGAGCCCCGTGGGATGTTGGAGCTTCACCAAGGCGAATATTGAGCAGAGGTTCCTGGGAGGGATACAGGGCATTCCTATCCTCAACTTGGGAGACTCTGTTGCTATGTAAGGCCCACAGCGGGGGTTTTGTCACCATTTTTTTTCTTGTTTTTATTTTTTATGGACATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCACAGGCTTTGGCTTCCCAAAACGTTGGGATTATAGGAGTGAGCCACTTCTTCACCGTTCTGATGTAGAAAGCTGTGTCACAATCTTGGGGGGTGACACCTTTGCCTTCAAGAAAGTGTCACTCTCCCAGTATCCCAAGGTCTCAGGTAATGTGGTAACTTATGGTCTAGTAACTGGGGTCTCTGTGACTATTTTGATATAGGAAGATCCAGAGGCACAATTTAGGGGTGTTATGACCTCACTTCAGACATGTTATTGTTCTTTGGCCATATGGAGGTACCAAATGTCACAGGGTGTTAGAGGTCTCATCATTACTTCAATTTACAAAGATCTGGGTCAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCACACCACTACGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCGCAAAAAACAAACAAAAAAAAAACAAATATCTGGGTCAAAATACAGGAGTATTACGGTTTCTATGAGATAACTGTTTATTTTTTATTTTTATTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCCGATCTCGGCTCACTGCAACCTCCACTTCTGGGTGCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTTTAAAGAATTTTTTATTTTTAGTAGAGACGGTTTCACCATGTTGATCAGGCTGGTCTTGACCTCAGGTGGTCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCCACCATGCTTGGCTGAGAGAAATGTTACCTAGAGTACTAGAAAGGACCACGACATTGCAGGTCCCAGGGTGCATTGGGGAGTTCGCAGCCTTGCTAAAGTAGAGGGTGACTGCCATTCTACTCGCGAGGTCCAAGGACCCCAGGGCTCCATGAGGGTGTTTTGGCCTCGCTGGGAGGGGCGGGGAGAATGCGGCCGGGGCGCTCCGTATGCATCCATGTTCGGCCGGGCCCACCCCAGCACCCCTCCTTTGCCTGTCCTCGCAGGGCCCGCCTGGAGCCTGCTGGCGCGCGTGGCTGGCAGGCGGCGCTTGGCAGCCGGAGGCCCGTGGGCCCGGGACATTCAGCGCGCAGGCGCCTGGGAGCTGCGCTTCTCGTACCGCGCGCGCTGCGAGCCGCCTGCCGTCGGGACCGCGTGCACGCGCCTCTGCCGTCCGCGCAGCGCCCCCTCGCGGTGCGGTCCGGGACTGCGCCCCTGCGCACCGCTCGAGGACGAATGTGAGGCGCCGCGTGAGTCCTGCGTTCGACCCCACCCCGTCCCAGCCGGGGACCCCGGCCCCTCCTGAGCGTCACTCGCGGCCCCCAGTCCCCTCTCACAACCCACTCACCCTCTTCAGGGTACTCTAGAGTCCCCCACCATGTACCCCAGGCACCCCTCTTCAGGGAGCTGGGGAACGCGCTGACTGCTGCGGATGTATCCCAAACCCCGCCCACCATCCAGCTGCCACCTTCGGAGAAACTGAGGACCCTGGACCTCTCTCCAGCCCTGCCTTGCTACTCGAGCCCCCTTCCCTCTCCCAGCCCTCTTGTTGCCCCAAATCGGAAGCCCACGTCCATTTTCTATGCTGGCACCCTCCAGTTCCTTCCCTAACCCACATTCACACCCTGTCCTGATGCTAGGACTCCAAAGCTCTTCTAATTCTGCGGCCCTCCCGACTCCCACTCGGAAGCTTTGGAATCTCCTCCCAGTCCACTCTGGCCAAGGGGCCCTCCATCCTCCCTCCCTAGGGTTGCAGGCCAGAACCCATGGCTTCTTAAAGCTTGGAATTCTTCAGACTTCTCCCCAAATTTCAGAGCCCCACCAAGGCCCCTAGGACTCCCAGGCTAATCCAGATCTTCTCAGAGCCACCCTAATTCAATACACTCCCATCTTCCCTGAAAGGCCAGGGGTCCCCCCACCAATCCCAAATCCCCTCACTGTCTCCTATCCTCACGATCTCACCTGGGTGCCCCTGTCCCATCCTCTTTCCAAGAGCACAGACTCCAGCCCGATGGCCTGGGTTCACATCATCACTCCTCCACTTCCTAGGTGGGCTGGTCACCTCGTCTCTGTGGGCCTCAGTTTCCCTATCTGTAAACTGGGGGGGCGGTCACAGTACCATCTAGTCCCGATGATTATCTGTCACAAAGATGAAGCAAGGTGGCTCAGGGAACGTGCTCAGAAACCTCCCTGCTTTCCATCTTGTCCCTGGCCCTCCCCGACGTTGGTGTTCCCTTTCTCTCTGCCTCTCTGTCCCCCATAGTGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGGCTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACCCCTCTGCACGGTCCCTGTCTCCACCAGCAGCTGCCTCAGCCCCAGGGGCCCGTCCTCTGCTACCACCGGATGCCTTGTCCCTGGGCCTGGGCCCTGTGACGGGAACCCGTGTGCCAATGGAGGCAGCTGTAGTGTCAGTGTCACCCTTCCCACCTTGTCCTGCTTAGTACTTTACCCTGGGAGCCACAGCCCTCTCCCTGGGGCTCCATGAGACACCAGCCTGGGGAGGAGATCTGGGAATAACTATCAGGGAGGTCTTCCTGGAGGCATCCAGCCGGCATCTGGGGCCTTGAAGTAGGATTAGGTGATGGGGATGGGACTGGGGAGAGCAGGCTCAGTGGGTGGCCCCGAAAGATGCAGGAGTGGAAATGATGAGGAGCCGTGTGGGGCCACAGCTGCCCCTACTGCGGGACTGAGAACGATTCAGGGCCCAAGGTAGTGGGTGGTGGGGCCAAATAGGTTGGAGATTTGGGATCTGCGGGCACAGGGGGTGGAGACATCAGAGAAGGCTTCCTGGAGGTGGCCCGGGGCTGGGGCTTCTGGGACGTGATTAGAGAGGGTGGCCAGGTGAGTGGCCTGCAGGGAGCAAGGGTGCAGAGGTGGCAGTGAGTGAGCCTGGCATGGAGTGCTGGGATAGAGTAGGGTCCAGTGTGGGCCACCTGGATACTGCCACACTCAGGGTTCAAATACTTAGGGAGAGGCCCTGGGAAGGAGAGATCCAGAGAAGCCTTCCTGGAGGAGGTGGGCTGAGATCTAGGACCTCCCAGTAGGACTCGTCAGTGTAGACAGAAGCGAGCAGGGCAGACCAGGCAGGCAGCATTTGGTAGGCAAAGATGTAGGGGTGGGAATGGGGTCACTCTGGGTCCCCAGAGCCTCCTCCCTCTGGGGTC
|
TTGAGAGCTCAGGGTGCGATATGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACCACGCTCGGCCCCTATGTGAAGCTCTGTCACCTTGTCCATGTGGACATCCCAGGGAGCCCCGTGGGATGTTGGAGCTTCACCAAGGCGAATATTGAGCAGAGGTTCCTGGGAGGGATACAGGGCATTCCTATCCTCAACTTGGGAGACTCTGTTGCTATGTAAGGCCCACAGCGGGGGTTTTGTCACCATTTTTTTTCTTGTTTTTATTTTTTATGGACATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCACAGGCTTTGGCTTCCCAAAACGTTGGGATTATAGGAGTGAGCCACTTCTTCACCGTTCTGATGTAGAAAGCTGTGTCACAATCTTGGGGGGTGACACCTTTGCCTTCAAGAAAGTGTCACTCTCCCAGTATCCCAAGGTCTCAGGTAATGTGGTAACTTATGGTCTAGTAACTGGGGTCTCTGTGACTATTTTGATATAGGAAGATCCAGAGGCACAATTTAGGGGTGTTATGACCTCACTTCAGACATGTTATTGTTCTTTGGCCATATGGAGGTACCAAATGTCACAGGGTGTTAGAGGTCTCATCATTACTTCAATTTACAAAGATCTGGGTCAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCACACCACTACGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCGCAAAAAACAAACAAAAAAAAAACAAATATCTGGGTCAAAATACAGGAGTATTACGGTTTCTATGAGATAACTGTTTATTTTTTATTTTTATTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCCGATCTCGGCTCACTGCAACCTCCACTTCTGGGTGCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTTTAAAGAATTTTTTATTTTTAGTAGAGACGGTTTCACCATGTTGATCAGGCTGGTCTTGACCTCAGGTGGTCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCCACCATGCTTGGCTGAGAGAAATGTTACCTAGAGTACTAGAAAGGACCACGACATTGCAGGTCCCAGGGTGCATTGGGGAGTTCGCAGCCTTGCTAAAGTAGAGGGTGACTGCCATTCTACTCGCGAGGTCCAAGGACCCCAGGGCTCCATGAGGGTGTTTTGGCCTCGCTGGGAGGGGCGGGGAGAATGCGGCCGGGGCGCTCCGTATGCATCCATGTTCGGCCGGGCCCACCCCAGCACCCCTCCTTTGCCTGTCCTCGCAGGGCCCGCCTGGAGCCTGCTGGCGCGCGTGGCTGGCAGGCGGCGCTTGGCAGCCGGAGGCCCGTGGGCCCGGGACATTCAGCGCGCAGGCGCCTGGGAGCTGCGCTTCTCGTACCGCGCGCGCTGCGAGCCGCCTGCCGTCGGGACCGCGTGCACGCGCCTCTGCCGTCCGCGCAGCGCCCCCTCGCGGTGCGGTGCGGTCCGGGACTGCGCCCCTGCGCACCGCTCGAGGACGAATGTGAGGCGCCGCGTGAGTCCTGCGTTCGACCCCACCCCGTCCCAGCCGGGGACCCCGGCCCCTCCTGAGCGTCACTCGCGGCCCCCAGTCCCCTCTCACAACCCACTCACCCTCTTCAGGGTACTCTAGAGTCCCCCACCATGTACCCCAGGCACCCCTCTTCAGGGAGCTGGGGAACGCGCTGACTGCTGCGGATGTATCCCAAACCCCGCCCACCATCCAGCTGCCACCTTCGGAGAAACTGAGGACCCTGGACCTCTCTCCAGCCCTGCCTTGCTACTCGAGCCCCCTTCCCTCTCCCAGCCCTCTTGTTGCCCCAAATCGGAAGCCCACGTCCATTTTCTATGCTGGCACCCTCCAGTTCCTTCCCTAACCCACATTCACACCCTGTCCTGATGCTAGGACTCCAAAGCTCTTCTAATTCTGCGGCCCTCCCGACTCCCACTCGGAAGCTTTGGAATCTCCTCCCAGTCCACTCTGGCCAAGGGGCCCTCCATCCTCCCTCCCTAGGGTTGCAGGCCAGAACCCATGGCTTCTTAAAGCTTGGAATTCTTCAGACTTCTCCCCAAATTTCAGAGCCCCACCAAGGCCCCTAGGACTCCCAGGCTAATCCAGATCTTCTCAGAGCCACCCTAATTCAATACACTCCCATCTTCCCTGAAAGGCCAGGGGTCCCCCCACCAATCCCAAATCCCCTCACTGTCTCCTATCCTCACGATCTCACCTGGGTGCCCCTGTCCCATCCTCTTTCCAAGAGCACAGACTCCAGCCCGATGGCCTGGGTTCACATCATCACTCCTCCACTTCCTAGGTGGGCTGGTCACCTCGTCTCTGTGGGCCTCAGTTTCCCTATCTGTAAACTGGGGGGGCGGTCACAGTACCATCTAGTCCCGATGATTATCTGTCACAAAGATGAAGCAAGGTGGCTCAGGGAACGTGCTCAGAAACCTCCCTGCTTTCCATCTTGTCCCTGGCCCTCCCCGACGTTGGTGTTCCCTTTCTCTCTGCCTCTCTGTCCCCCATAGTGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGGCTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACCCCTCTGCACGGTCCCTGTCTCCACCAGCAGCTGCCTCAGCCCCAGGGGCCCGTCCTCTGCTACCACCGGATGCCTTGTCCCTGGGCCTGGGCCCTGTGACGGGAACCCGTGTGCCAATGGAGGCAGCTGTAGTGTCAGTGTCACCCTTCCCACCTTGTCCTGCTTAGTACTTTACCCTGGGAGCCACAGCCCTCTCCCTGGGGCTCCATGAGACACCAGCCTGGGGAGGAGATCTGGGAATAACTATCAGGGAGGTCTTCCTGGAGGCATCCAGCCGGCATCTGGGGCCTTGAAGTAGGATTAGGTGATGGGGATGGGACTGGGGAGAGCAGGCTCAGTGGGTGGCCCCGAAAGATGCAGGAGTGGAAATGATGAGGAGCCGTGTGGGGCCACAGCTGCCCCTACTGCGGGACTGAGAACGATTCAGGGCCCAAGGTAGTGGGTGGTGGGGCCAAATAGGTTGGAGATTTGGGATCTGCGGGCACAGGGGGTGGAGACATCAGAGAAGGCTTCCTGGAGGTGGCCCGGGGCTGGGGCTTCTGGGACGTGATTAGAGAGGGTGGCCAGGTGAGTGGCCTGCAGGGAGCAAGGGTGCAGAGGTGGCAGTGAGTGAGCCTGGCATGGAGTGCTGGGATAGAGTAGGGTCCAGTGTGGGCCACCTGGATACTGCCACACTCAGGGTTCAAATACTTAGGGAGAGGCCCTGGGAAGGAGAGATCCAGAGAAGCCTTCCTGGAGGAGGTGGGCTGAGATCTAGGACCTCCCAGTAGGACTCGTCAGTGTAGACAGAAGCGAGCAGGGCAGACCAGGCAGGCAGCATTTGGTAGGCAAAGATGTAGGGGTGGGAATGGGGTCACTCTGGGTCCCCAGAGCCTCCTCCCTCTG
|
pathogenic
| 304,703 |
A genetic variant on chromosome 19, position 39503019, affects the gene DLL3. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Spondylocostal_dysostosis_1,_autosomal_recessive']
|
TGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACCACGCTCGGCCCCTATGTGAAGCTCTGTCACCTTGTCCATGTGGACATCCCAGGGAGCCCCGTGGGATGTTGGAGCTTCACCAAGGCGAATATTGAGCAGAGGTTCCTGGGAGGGATACAGGGCATTCCTATCCTCAACTTGGGAGACTCTGTTGCTATGTAAGGCCCACAGCGGGGGTTTTGTCACCATTTTTTTTCTTGTTTTTATTTTTTATGGACATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCACAGGCTTTGGCTTCCCAAAACGTTGGGATTATAGGAGTGAGCCACTTCTTCACCGTTCTGATGTAGAAAGCTGTGTCACAATCTTGGGGGGTGACACCTTTGCCTTCAAGAAAGTGTCACTCTCCCAGTATCCCAAGGTCTCAGGTAATGTGGTAACTTATGGTCTAGTAACTGGGGTCTCTGTGACTATTTTGATATAGGAAGATCCAGAGGCACAATTTAGGGGTGTTATGACCTCACTTCAGACATGTTATTGTTCTTTGGCCATATGGAGGTACCAAATGTCACAGGGTGTTAGAGGTCTCATCATTACTTCAATTTACAAAGATCTGGGTCAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCACACCACTACGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCGCAAAAAACAAACAAAAAAAAAACAAATATCTGGGTCAAAATACAGGAGTATTACGGTTTCTATGAGATAACTGTTTATTTTTTATTTTTATTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCCGATCTCGGCTCACTGCAACCTCCACTTCTGGGTGCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTTTAAAGAATTTTTTATTTTTAGTAGAGACGGTTTCACCATGTTGATCAGGCTGGTCTTGACCTCAGGTGGTCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCCACCATGCTTGGCTGAGAGAAATGTTACCTAGAGTACTAGAAAGGACCACGACATTGCAGGTCCCAGGGTGCATTGGGGAGTTCGCAGCCTTGCTAAAGTAGAGGGTGACTGCCATTCTACTCGCGAGGTCCAAGGACCCCAGGGCTCCATGAGGGTGTTTTGGCCTCGCTGGGAGGGGCGGGGAGAATGCGGCCGGGGCGCTCCGTATGCATCCATGTTCGGCCGGGCCCACCCCAGCACCCCTCCTTTGCCTGTCCTCGCAGGGCCCGCCTGGAGCCTGCTGGCGCGCGTGGCTGGCAGGCGGCGCTTGGCAGCCGGAGGCCCGTGGGCCCGGGACATTCAGCGCGCAGGCGCCTGGGAGCTGCGCTTCTCGTACCGCGCGCGCTGCGAGCCGCCTGCCGTCGGGACCGCGTGCACGCGCCTCTGCCGTCCGCGCAGCGCCCCCTCGCGGTGCGGTCCGGGACTGCGCCCCTGCGCACCGCTCGAGGACGAATGTGAGGCGCCGCGTGAGTCCTGCGTTCGACCCCACCCCGTCCCAGCCGGGGACCCCGGCCCCTCCTGAGCGTCACTCGCGGCCCCCAGTCCCCTCTCACAACCCACTCACCCTCTTCAGGGTACTCTAGAGTCCCCCACCATGTACCCCAGGCACCCCTCTTCAGGGAGCTGGGGAACGCGCTGACTGCTGCGGATGTATCCCAAACCCCGCCCACCATCCAGCTGCCACCTTCGGAGAAACTGAGGACCCTGGACCTCTCTCCAGCCCTGCCTTGCTACTCGAGCCCCCTTCCCTCTCCCAGCCCTCTTGTTGCCCCAAATCGGAAGCCCACGTCCATTTTCTATGCTGGCACCCTCCAGTTCCTTCCCTAACCCACATTCACACCCTGTCCTGATGCTAGGACTCCAAAGCTCTTCTAATTCTGCGGCCCTCCCGACTCCCACTCGGAAGCTTTGGAATCTCCTCCCAGTCCACTCTGGCCAAGGGGCCCTCCATCCTCCCTCCCTAGGGTTGCAGGCCAGAACCCATGGCTTCTTAAAGCTTGGAATTCTTCAGACTTCTCCCCAAATTTCAGAGCCCCACCAAGGCCCCTAGGACTCCCAGGCTAATCCAGATCTTCTCAGAGCCACCCTAATTCAATACACTCCCATCTTCCCTGAAAGGCCAGGGGTCCCCCCACCAATCCCAAATCCCCTCACTGTCTCCTATCCTCACGATCTCACCTGGGTGCCCCTGTCCCATCCTCTTTCCAAGAGCACAGACTCCAGCCCGATGGCCTGGGTTCACATCATCACTCCTCCACTTCCTAGGTGGGCTGGTCACCTCGTCTCTGTGGGCCTCAGTTTCCCTATCTGTAAACTGGGGGGGCGGTCACAGTACCATCTAGTCCCGATGATTATCTGTCACAAAGATGAAGCAAGGTGGCTCAGGGAACGTGCTCAGAAACCTCCCTGCTTTCCATCTTGTCCCTGGCCCTCCCCGACGTTGGTGTTCCCTTTCTCTCTGCCTCTCTGTCCCCCATAGTGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGGCTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACCCCTCTGCACGGTCCCTGTCTCCACCAGCAGCTGCCTCAGCCCCAGGGGCCCGTCCTCTGCTACCACCGGATGCCTTGTCCCTGGGCCTGGGCCCTGTGACGGGAACCCGTGTGCCAATGGAGGCAGCTGTAGTGTCAGTGTCACCCTTCCCACCTTGTCCTGCTTAGTACTTTACCCTGGGAGCCACAGCCCTCTCCCTGGGGCTCCATGAGACACCAGCCTGGGGAGGAGATCTGGGAATAACTATCAGGGAGGTCTTCCTGGAGGCATCCAGCCGGCATCTGGGGCCTTGAAGTAGGATTAGGTGATGGGGATGGGACTGGGGAGAGCAGGCTCAGTGGGTGGCCCCGAAAGATGCAGGAGTGGAAATGATGAGGAGCCGTGTGGGGCCACAGCTGCCCCTACTGCGGGACTGAGAACGATTCAGGGCCCAAGGTAGTGGGTGGTGGGGCCAAATAGGTTGGAGATTTGGGATCTGCGGGCACAGGGGGTGGAGACATCAGAGAAGGCTTCCTGGAGGTGGCCCGGGGCTGGGGCTTCTGGGACGTGATTAGAGAGGGTGGCCAGGTGAGTGGCCTGCAGGGAGCAAGGGTGCAGAGGTGGCAGTGAGTGAGCCTGGCATGGAGTGCTGGGATAGAGTAGGGTCCAGTGTGGGCCACCTGGATACTGCCACACTCAGGGTTCAAATACTTAGGGAGAGGCCCTGGGAAGGAGAGATCCAGAGAAGCCTTCCTGGAGGAGGTGGGCTGAGATCTAGGACCTCCCAGTAGGACTCGTCAGTGTAGACAGAAGCGAGCAGGGCAGACCAGGCAGGCAGCATTTGGTAGGCAAAGATGTAGGGGTGGGAATGGGGTCACTCTGGGTCCCCAGAGCCTCCTCCCTCTGGGGTCACATGGGCAGACAGAAGAATG
|
TGAATTACTTCTGGTTCTTTTATGTGAAGTTTTTTTTTTTTCTTTCCAAGACAGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTACTTTTTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTTGAACTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAGAGTGTTGAGATTACAGGCATGAGCCACCACGCTCGGCCCCTATGTGAAGCTCTGTCACCTTGTCCATGTGGACATCCCAGGGAGCCCCGTGGGATGTTGGAGCTTCACCAAGGCGAATATTGAGCAGAGGTTCCTGGGAGGGATACAGGGCATTCCTATCCTCAACTTGGGAGACTCTGTTGCTATGTAAGGCCCACAGCGGGGGTTTTGTCACCATTTTTTTTCTTGTTTTTATTTTTTATGGACATGGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCACAGGCTTTGGCTTCCCAAAACGTTGGGATTATAGGAGTGAGCCACTTCTTCACCGTTCTGATGTAGAAAGCTGTGTCACAATCTTGGGGGGTGACACCTTTGCCTTCAAGAAAGTGTCACTCTCCCAGTATCCCAAGGTCTCAGGTAATGTGGTAACTTATGGTCTAGTAACTGGGGTCTCTGTGACTATTTTGATATAGGAAGATCCAGAGGCACAATTTAGGGGTGTTATGACCTCACTTCAGACATGTTATTGTTCTTTGGCCATATGGAGGTACCAAATGTCACAGGGTGTTAGAGGTCTCATCATTACTTCAATTTACAAAGATCTGGGTCAAGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCACACCACTACGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCGCAAAAAACAAACAAAAAAAAAACAAATATCTGGGTCAAAATACAGGAGTATTACGGTTTCTATGAGATAACTGTTTATTTTTTATTTTTATTTTTTTGAGAGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCCGATCTCGGCTCACTGCAACCTCCACTTCTGGGTGCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGTGCGTGCCACCACGCCTGGCTAATTTTTTTAAAGAATTTTTTATTTTTAGTAGAGACGGTTTCACCATGTTGATCAGGCTGGTCTTGACCTCAGGTGGTCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCCACCATGCTTGGCTGAGAGAAATGTTACCTAGAGTACTAGAAAGGACCACGACATTGCAGGTCCCAGGGTGCATTGGGGAGTTCGCAGCCTTGCTAAAGTAGAGGGTGACTGCCATTCTACTCGCGAGGTCCAAGGACCCCAGGGCTCCATGAGGGTGTTTTGGCCTCGCTGGGAGGGGCGGGGAGAATGCGGCCGGGGCGCTCCGTATGCATCCATGTTCGGCCGGGCCCACCCCAGCACCCCTCCTTTGCCTGTCCTCGCAGGGCCCGCCTGGAGCCTGCTGGCGCGCGTGGCTGGCAGGCGGCGCTTGGCAGCCGGAGGCCCGTGGGCCCGGGACATTCAGCGCGCAGGCGCCTGGGAGCTGCGCTTCTCGTACCGCGCGCGCTGCGAGCCGCCTGCCGTCGGGACCGCGTGCACGCGCCTCTGCCGTCCGCGCAGCGCCCCCTCGCGGTGCGGTCCGGGACTGCGCCCTGCGCACCGCTCGAGGACGAATGTGAGGCGCCGCGTGAGTCCTGCGTTCGACCCCACCCCGTCCCAGCCGGGGACCCCGGCCCCTCCTGAGCGTCACTCGCGGCCCCCAGTCCCCTCTCACAACCCACTCACCCTCTTCAGGGTACTCTAGAGTCCCCCACCATGTACCCCAGGCACCCCTCTTCAGGGAGCTGGGGAACGCGCTGACTGCTGCGGATGTATCCCAAACCCCGCCCACCATCCAGCTGCCACCTTCGGAGAAACTGAGGACCCTGGACCTCTCTCCAGCCCTGCCTTGCTACTCGAGCCCCCTTCCCTCTCCCAGCCCTCTTGTTGCCCCAAATCGGAAGCCCACGTCCATTTTCTATGCTGGCACCCTCCAGTTCCTTCCCTAACCCACATTCACACCCTGTCCTGATGCTAGGACTCCAAAGCTCTTCTAATTCTGCGGCCCTCCCGACTCCCACTCGGAAGCTTTGGAATCTCCTCCCAGTCCACTCTGGCCAAGGGGCCCTCCATCCTCCCTCCCTAGGGTTGCAGGCCAGAACCCATGGCTTCTTAAAGCTTGGAATTCTTCAGACTTCTCCCCAAATTTCAGAGCCCCACCAAGGCCCCTAGGACTCCCAGGCTAATCCAGATCTTCTCAGAGCCACCCTAATTCAATACACTCCCATCTTCCCTGAAAGGCCAGGGGTCCCCCCACCAATCCCAAATCCCCTCACTGTCTCCTATCCTCACGATCTCACCTGGGTGCCCCTGTCCCATCCTCTTTCCAAGAGCACAGACTCCAGCCCGATGGCCTGGGTTCACATCATCACTCCTCCACTTCCTAGGTGGGCTGGTCACCTCGTCTCTGTGGGCCTCAGTTTCCCTATCTGTAAACTGGGGGGGCGGTCACAGTACCATCTAGTCCCGATGATTATCTGTCACAAAGATGAAGCAAGGTGGCTCAGGGAACGTGCTCAGAAACCTCCCTGCTTTCCATCTTGTCCCTGGCCCTCCCCGACGTTGGTGTTCCCTTTCTCTCTGCCTCTCTGTCCCCCATAGTGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGGCTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACCCCTCTGCACGGTCCCTGTCTCCACCAGCAGCTGCCTCAGCCCCAGGGGCCCGTCCTCTGCTACCACCGGATGCCTTGTCCCTGGGCCTGGGCCCTGTGACGGGAACCCGTGTGCCAATGGAGGCAGCTGTAGTGTCAGTGTCACCCTTCCCACCTTGTCCTGCTTAGTACTTTACCCTGGGAGCCACAGCCCTCTCCCTGGGGCTCCATGAGACACCAGCCTGGGGAGGAGATCTGGGAATAACTATCAGGGAGGTCTTCCTGGAGGCATCCAGCCGGCATCTGGGGCCTTGAAGTAGGATTAGGTGATGGGGATGGGACTGGGGAGAGCAGGCTCAGTGGGTGGCCCCGAAAGATGCAGGAGTGGAAATGATGAGGAGCCGTGTGGGGCCACAGCTGCCCCTACTGCGGGACTGAGAACGATTCAGGGCCCAAGGTAGTGGGTGGTGGGGCCAAATAGGTTGGAGATTTGGGATCTGCGGGCACAGGGGGTGGAGACATCAGAGAAGGCTTCCTGGAGGTGGCCCGGGGCTGGGGCTTCTGGGACGTGATTAGAGAGGGTGGCCAGGTGAGTGGCCTGCAGGGAGCAAGGGTGCAGAGGTGGCAGTGAGTGAGCCTGGCATGGAGTGCTGGGATAGAGTAGGGTCCAGTGTGGGCCACCTGGATACTGCCACACTCAGGGTTCAAATACTTAGGGAGAGGCCCTGGGAAGGAGAGATCCAGAGAAGCCTTCCTGGAGGAGGTGGGCTGAGATCTAGGACCTCCCAGTAGGACTCGTCAGTGTAGACAGAAGCGAGCAGGGCAGACCAGGCAGGCAGCATTTGGTAGGCAAAGATGTAGGGGTGGGAATGGGGTCACTCTGGGTCCCCAGAGCCTCCTCCCTCTGGGGTCACATGGGCAGACAGAAGAATGN
|
pathogenic
| 304,704 |
Variant chromosome 19, position 39505302, gene DLL3 (delta like canonical Notch ligand 3): benign or pathogenic? Disease(s)?
|
pathogenic; ['Spondylocostal_dysostosis_1,_autosomal_recessive']
|
CCGCCCACCATCCAGCTGCCACCTTCGGAGAAACTGAGGACCCTGGACCTCTCTCCAGCCCTGCCTTGCTACTCGAGCCCCCTTCCCTCTCCCAGCCCTCTTGTTGCCCCAAATCGGAAGCCCACGTCCATTTTCTATGCTGGCACCCTCCAGTTCCTTCCCTAACCCACATTCACACCCTGTCCTGATGCTAGGACTCCAAAGCTCTTCTAATTCTGCGGCCCTCCCGACTCCCACTCGGAAGCTTTGGAATCTCCTCCCAGTCCACTCTGGCCAAGGGGCCCTCCATCCTCCCTCCCTAGGGTTGCAGGCCAGAACCCATGGCTTCTTAAAGCTTGGAATTCTTCAGACTTCTCCCCAAATTTCAGAGCCCCACCAAGGCCCCTAGGACTCCCAGGCTAATCCAGATCTTCTCAGAGCCACCCTAATTCAATACACTCCCATCTTCCCTGAAAGGCCAGGGGTCCCCCCACCAATCCCAAATCCCCTCACTGTCTCCTATCCTCACGATCTCACCTGGGTGCCCCTGTCCCATCCTCTTTCCAAGAGCACAGACTCCAGCCCGATGGCCTGGGTTCACATCATCACTCCTCCACTTCCTAGGTGGGCTGGTCACCTCGTCTCTGTGGGCCTCAGTTTCCCTATCTGTAAACTGGGGGGGCGGTCACAGTACCATCTAGTCCCGATGATTATCTGTCACAAAGATGAAGCAAGGTGGCTCAGGGAACGTGCTCAGAAACCTCCCTGCTTTCCATCTTGTCCCTGGCCCTCCCCGACGTTGGTGTTCCCTTTCTCTCTGCCTCTCTGTCCCCCATAGTGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGGCTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACCCCTCTGCACGGTCCCTGTCTCCACCAGCAGCTGCCTCAGCCCCAGGGGCCCGTCCTCTGCTACCACCGGATGCCTTGTCCCTGGGCCTGGGCCCTGTGACGGGAACCCGTGTGCCAATGGAGGCAGCTGTAGTGTCAGTGTCACCCTTCCCACCTTGTCCTGCTTAGTACTTTACCCTGGGAGCCACAGCCCTCTCCCTGGGGCTCCATGAGACACCAGCCTGGGGAGGAGATCTGGGAATAACTATCAGGGAGGTCTTCCTGGAGGCATCCAGCCGGCATCTGGGGCCTTGAAGTAGGATTAGGTGATGGGGATGGGACTGGGGAGAGCAGGCTCAGTGGGTGGCCCCGAAAGATGCAGGAGTGGAAATGATGAGGAGCCGTGTGGGGCCACAGCTGCCCCTACTGCGGGACTGAGAACGATTCAGGGCCCAAGGTAGTGGGTGGTGGGGCCAAATAGGTTGGAGATTTGGGATCTGCGGGCACAGGGGGTGGAGACATCAGAGAAGGCTTCCTGGAGGTGGCCCGGGGCTGGGGCTTCTGGGACGTGATTAGAGAGGGTGGCCAGGTGAGTGGCCTGCAGGGAGCAAGGGTGCAGAGGTGGCAGTGAGTGAGCCTGGCATGGAGTGCTGGGATAGAGTAGGGTCCAGTGTGGGCCACCTGGATACTGCCACACTCAGGGTTCAAATACTTAGGGAGAGGCCCTGGGAAGGAGAGATCCAGAGAAGCCTTCCTGGAGGAGGTGGGCTGAGATCTAGGACCTCCCAGTAGGACTCGTCAGTGTAGACAGAAGCGAGCAGGGCAGACCAGGCAGGCAGCATTTGGTAGGCAAAGATGTAGGGGTGGGAATGGGGTCACTCTGGGTCCCCAGAGCCTCCTCCCTCTGGGGTCACATGGGCAGACAGAAGAATGTGGAGTGGATCGAGGGGATGTCGGGAGGACCTCCCAGGGTGGCCCCTGCATAGTGGGACTTGAGACTGGACAAGGAGCAGCCCCCAGTGGTTAGGACTGAGGAGGGGGATGGGATTTTTCTCCAAGGAAACACCCTTCTCAAGTACTCTTGTCCCTGCCCAGGAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACATGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAGACCCTGACTCTGCCTACATCTGCCACTGCCCACCCGGTTTCCAAGGCTCCAACTGTGAGAAGAGGGTGGACCGGTGCAGCCTGCAGCCATGCCGCAATGGTGAGGCCTGGAGGCCTGAACGGCGAGGGATGGGGTGGGGGTCCTGGATGGCTCAGACAGTCCAGGGTTGGAATCCTGGCTTTGACTCTTCTAACCCTAGGGCCTGGGGACCTGACCTTCCACCTGCAAGCCTGTAAAATGGGCAAGGAGACATTCCCTATCTCATAACTATTAATATTTACTGAGAATTTACTGTGTGCCAGGCCCTATTCTAGGCACTGAGGATACAGCAGGGAATGAAACAGACAAAGTCCCTGGCCCTGCCTGATAGAGCTGAGGTGCCTGGTGTGCTGAGGATAAGCAGGGAAGCCAGTGTGGTTATACTGAGATGAGGTCAGGGAGGTGACTGAGGCACATCTTGTGGGACCCCCTGGGTCACAAGAAGGGGAACTTTCACTTTTCCCCTGAGTGAGATGGAGCCACAGGAAGGTTCTGAGGAGAGAAGAGACCTGATATCGGTGCTAAAAGATTAAATGCGGCCCGGCACGGCGACTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGCTCAGGAGTTGGAGACCAGCCCGGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCAGGTGCTTGTAATCCCAGCTACTCGGGAGGCTAAGGCGGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCGCTCCCGCCTGGGCGACAGAGTGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTAAGTAAGATCATGAATGTAGGCTGAAGCAGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTTTCGAAAAAAAAAAAAAAAAAGATCATGAATGTAAAGGGCTGGCTGTGTATCTTCTTGCGAGTGAATACAATAATTCTCTCCCAAACACTGAGTGTTCATTCTGGGGTGTGTGGTACTAGGGACTCAGCACCGACCAGGACATCTCTGGGCCGCACCCTCCTGGGGGAACCAGCCCAGAGGGGAAGACAGACACCCTCAGACAGAGCCCAGGGTGGGTGGTCAGGGCTGTGATGTAGGAGCACAGGGCAGTGATCAGGGCTGGGATGGAGGAAGGAGCATCGGAGTAGAAACCTGAGGGGTGGGCTAGGGAAGAGAAAAGGTGGGAAAAAATGTGAGAAAAGGAGGAAGGGAAGAGAGGAGGGGTATTCTAGGCAGAGGAAGGCCAGAGGGTTCAAACACGTAGTTCTGGGAGCTGTCTACTATTGAAGTATGATCGAAGCCGAAGGAAAAAGAGACAAGGGCACCGAGAGCCAAAGAGGTGGAGCTGAATTAATTATTCCAAAACTTCATTAGGAAGAAAAGCGAGCTGGCTTTCCTGGCACACTCCAAGACGCTGGCCCTTAAGTTAGAGAGAAAAAGGGGACCCCGTGCAGCGATGACAGAGCTGGGAAACAGCGCGGGCAGGTGGGTCCCCGGCTCCCGGACTGCGCCCTCTGATGCTCCCTTCCCCACAGGCGGACTCTGCCTGGACCTGGGCCACGCCCTGCGCTGCCGCTGCCGCGCCGGCTTCGCGGGTCCTCGCTGCGAGCACGACCTGGACGACTGCGCGGGCCGCGCCTGCGCTAACGGCGGCACGTGTGTGGAGGGCGGCGGCGCGCACCGCTGCTCCTGCGCGCTGGGCTTCGGCGGCCGCGACTGCCGCGAGCGCGCGGACCCGTGCGCCGCGCGCCCCTGTGCTCACGGCGGCCGCTGCTACGCCCACTTCTCCGGCCTCGTCTGCGCTTGCGCTCCCGGCTACATGGGAGCGCGGTGTGAGTTCCCAGTG
|
CCGCCCACCATCCAGCTGCCACCTTCGGAGAAACTGAGGACCCTGGACCTCTCTCCAGCCCTGCCTTGCTACTCGAGCCCCCTTCCCTCTCCCAGCCCTCTTGTTGCCCCAAATCGGAAGCCCACGTCCATTTTCTATGCTGGCACCCTCCAGTTCCTTCCCTAACCCACATTCACACCCTGTCCTGATGCTAGGACTCCAAAGCTCTTCTAATTCTGCGGCCCTCCCGACTCCCACTCGGAAGCTTTGGAATCTCCTCCCAGTCCACTCTGGCCAAGGGGCCCTCCATCCTCCCTCCCTAGGGTTGCAGGCCAGAACCCATGGCTTCTTAAAGCTTGGAATTCTTCAGACTTCTCCCCAAATTTCAGAGCCCCACCAAGGCCCCTAGGACTCCCAGGCTAATCCAGATCTTCTCAGAGCCACCCTAATTCAATACACTCCCATCTTCCCTGAAAGGCCAGGGGTCCCCCCACCAATCCCAAATCCCCTCACTGTCTCCTATCCTCACGATCTCACCTGGGTGCCCCTGTCCCATCCTCTTTCCAAGAGCACAGACTCCAGCCCGATGGCCTGGGTTCACATCATCACTCCTCCACTTCCTAGGTGGGCTGGTCACCTCGTCTCTGTGGGCCTCAGTTTCCCTATCTGTAAACTGGGGGGGCGGTCACAGTACCATCTAGTCCCGATGATTATCTGTCACAAAGATGAAGCAAGGTGGCTCAGGGAACGTGCTCAGAAACCTCCCTGCTTTCCATCTTGTCCCTGGCCCTCCCCGACGTTGGTGTTCCCTTTCTCTCTGCCTCTCTGTCCCCCATAGTGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGGCTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACCCCTCTGCACGGTCCCTGTCTCCACCAGCAGCTGCCTCAGCCCCAGGGGCCCGTCCTCTGCTACCACCGGATGCCTTGTCCCTGGGCCTGGGCCCTGTGACGGGAACCCGTGTGCCAATGGAGGCAGCTGTAGTGTCAGTGTCACCCTTCCCACCTTGTCCTGCTTAGTACTTTACCCTGGGAGCCACAGCCCTCTCCCTGGGGCTCCATGAGACACCAGCCTGGGGAGGAGATCTGGGAATAACTATCAGGGAGGTCTTCCTGGAGGCATCCAGCCGGCATCTGGGGCCTTGAAGTAGGATTAGGTGATGGGGATGGGACTGGGGAGAGCAGGCTCAGTGGGTGGCCCCGAAAGATGCAGGAGTGGAAATGATGAGGAGCCGTGTGGGGCCACAGCTGCCCCTACTGCGGGACTGAGAACGATTCAGGGCCCAAGGTAGTGGGTGGTGGGGCCAAATAGGTTGGAGATTTGGGATCTGCGGGCACAGGGGGTGGAGACATCAGAGAAGGCTTCCTGGAGGTGGCCCGGGGCTGGGGCTTCTGGGACGTGATTAGAGAGGGTGGCCAGGTGAGTGGCCTGCAGGGAGCAAGGGTGCAGAGGTGGCAGTGAGTGAGCCTGGCATGGAGTGCTGGGATAGAGTAGGGTCCAGTGTGGGCCACCTGGATACTGCCACACTCAGGGTTCAAATACTTAGGGAGAGGCCCTGGGAAGGAGAGATCCAGAGAAGCCTTCCTGGAGGAGGTGGGCTGAGATCTAGGACCTCCCAGTAGGACTCGTCAGTGTAGACAGAAGCGAGCAGGGCAGACCAGGCAGGCAGCATTTGGTAGGCAAAGATGTAGGGGTGGGAATGGGGTCACTCTGGGTCCCCAGAGCCTCCTCCCTCTGGGGTCACATGGGCAGACAGAAGAATGTGGAGTGGATCGAGGGGATGTCGGGAGGACCTCCCAGGGTGGCCCCTGCATAGTGGGACTTGAGACTGGACAAGGAGCAGCCCCCAGTGGTTAGGACTGAGGAGGGGGATGGGATTTTTCTCCAAGGAAACACCCTTCTCAAGTACTCTTGTCCCTGCCCAGGAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAGACCCTGACTCTGCCTACATCTGCCACTGCCCACCCGGTTTCCAAGGCTCCAACTGTGAGAAGAGGGTGGACCGGTGCAGCCTGCAGCCATGCCGCAATGGTGAGGCCTGGAGGCCTGAACGGCGAGGGATGGGGTGGGGGTCCTGGATGGCTCAGACAGTCCAGGGTTGGAATCCTGGCTTTGACTCTTCTAACCCTAGGGCCTGGGGACCTGACCTTCCACCTGCAAGCCTGTAAAATGGGCAAGGAGACATTCCCTATCTCATAACTATTAATATTTACTGAGAATTTACTGTGTGCCAGGCCCTATTCTAGGCACTGAGGATACAGCAGGGAATGAAACAGACAAAGTCCCTGGCCCTGCCTGATAGAGCTGAGGTGCCTGGTGTGCTGAGGATAAGCAGGGAAGCCAGTGTGGTTATACTGAGATGAGGTCAGGGAGGTGACTGAGGCACATCTTGTGGGACCCCCTGGGTCACAAGAAGGGGAACTTTCACTTTTCCCCTGAGTGAGATGGAGCCACAGGAAGGTTCTGAGGAGAGAAGAGACCTGATATCGGTGCTAAAAGATTAAATGCGGCCCGGCACGGCGACTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGCTCAGGAGTTGGAGACCAGCCCGGGCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCAGGTGCTTGTAATCCCAGCTACTCGGGAGGCTAAGGCGGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCGCTCCCGCCTGGGCGACAGAGTGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTAAGTAAGATCATGAATGTAGGCTGAAGCAGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTTTCGAAAAAAAAAAAAAAAAAGATCATGAATGTAAAGGGCTGGCTGTGTATCTTCTTGCGAGTGAATACAATAATTCTCTCCCAAACACTGAGTGTTCATTCTGGGGTGTGTGGTACTAGGGACTCAGCACCGACCAGGACATCTCTGGGCCGCACCCTCCTGGGGGAACCAGCCCAGAGGGGAAGACAGACACCCTCAGACAGAGCCCAGGGTGGGTGGTCAGGGCTGTGATGTAGGAGCACAGGGCAGTGATCAGGGCTGGGATGGAGGAAGGAGCATCGGAGTAGAAACCTGAGGGGTGGGCTAGGGAAGAGAAAAGGTGGGAAAAAATGTGAGAAAAGGAGGAAGGGAAGAGAGGAGGGGTATTCTAGGCAGAGGAAGGCCAGAGGGTTCAAACACGTAGTTCTGGGAGCTGTCTACTATTGAAGTATGATCGAAGCCGAAGGAAAAAGAGACAAGGGCACCGAGAGCCAAAGAGGTGGAGCTGAATTAATTATTCCAAAACTTCATTAGGAAGAAAAGCGAGCTGGCTTTCCTGGCACACTCCAAGACGCTGGCCCTTAAGTTAGAGAGAAAAAGGGGACCCCGTGCAGCGATGACAGAGCTGGGAAACAGCGCGGGCAGGTGGGTCCCCGGCTCCCGGACTGCGCCCTCTGATGCTCCCTTCCCCACAGGCGGACTCTGCCTGGACCTGGGCCACGCCCTGCGCTGCCGCTGCCGCGCCGGCTTCGCGGGTCCTCGCTGCGAGCACGACCTGGACGACTGCGCGGGCCGCGCCTGCGCTAACGGCGGCACGTGTGTGGAGGGCGGCGGCGCGCACCGCTGCTCCTGCGCGCTGGGCTTCGGCGGCCGCGACTGCCGCGAGCGCGCGGACCCGTGCGCCGCGCGCCCCTGTGCTCACGGCGGCCGCTGCTACGCCCACTTCTCCGGCCTCGTCTGCGCTTGCGCTCCCGGCTACATGGGAGCGCGGTGTGAGTTCCCAGTGNN
|
pathogenic
| 304,715 |
The mutation impacting PLD3 on chromosome 19 at position 40394272: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
AGGAGACCTCTGGAGAAGGGGTGCAGAAGCTGCTGGGTCCCCAAGGGGATGCAGGAGAGAGTTTGGGAGTTGTCAGCACAGAGAGGAGGCGTGGAAGCCATGGGGGAGGGTGATGCACCCTAGGGAGGGTGTGGGGGTGGACAAGGGCCCGGGAGGAACCTCCGGTGCCCAAGGAGCACGGGGAGAGAGAGGTGTGGGGAAGAGGAGCAAGTGTCAGGAAGATCGAAGGGGCCTTGAAGAGTCAGGACAAGAGAGACAAAGGAAACCCTCAGGCGTGGCCACGGGGAGGTCACTGCTGACACAGACAAGGTAGGAGGAAAACCCCAAATGCTGGGGTCTTGGAAATGGGGGTGCACTGTGAGTGTAGATAACTCCTGCCATGTTTGGTGGGGGCAAAGAAAAAGTGTGTGGTGAGACAGTGACCTGAGGAGGGCTGGCTGGAAGGGACAAGGTACTCAAGTGAGTGGGGGATTCTGCCAGGCCCCTCATCCACTGAGACAGGATAGGGAGATGTGAGGAGAGTGGGGGGCTGTCGGGGCGAGACTTGGGACTGGATATTGAGTCTCCTTAGTCCAGTGTGGGACATCACAGAGAGACATGGAGGAGGCTGGAGGCCCTGCTGGGAGCCTCAGGACTTAGATCCTGAATTGGGATGGCAGGGATGGATGGCCCATGGCCCCTGGGAGCTGAGACCAGCACTGACAGGTGCTGAGGACCCTGGGACCTAGTTCCAAGAGGCGGCTGTGTTTCTGGGGTAGAGGCTTTGAGGGGACCAGGAGCAGCCTTCCTGGGTGGGGCCAGAGTGGACAGGGCAGTCAAACCAGCCAGACAGGAAAGAGAAGGCCAGGATGTGCAGAAGTGCCCTCACCGGCAGAGGGCAGGTGGGGAGCAACCAGCCTGGTAGGAGTGGGTCCCCCAGGACAGGCAGGCTTCCTGGCAGAGGGGTCCCGAAGCTGTGCTCTGCCAGGGAACATCCCAGAGTCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAA
|
AGGAGACCTCTGGAGAAGGGGTGCAGAAGCTGCTGGGTCCCCAAGGGGATGCAGGAGAGAGTTTGGGAGTTGTCAGCACAGAGAGGAGGCGTGGAAGCCATGGGGGAGGGTGATGCACCCTAGGGAGGGTGTGGGGGTGGACAAGGGCCCGGGAGGAACCTCCGGTGCCCAAGGAGCACGGGGAGAGAGAGGTGTGGGGAAGAGGAGCAAGTGTCAGGAAGATCGAAGGGGCCTTGAAGAGTCAGGACAAGAGAGACAAAGGAAACCCTCAGGCGTGGCCACGGGGAGGTCACTGCTGACACAGACAAGGTAGGAGGAAAACCCCAAATGCTGGGGTCTTGGAAATGGGGGTGCACTGTGAGTGTAGATAACTCCTGCCATGTTTGGTGGGGGCAAAGAAAAAGTGTGTGGTGAGACAGTGACCTGAGGAGGGCTGGCTGGAAGGGACAAGGTACTCAAGTGAGTGGGGGATTCTGCCAGGCCCCTCATCCACTGAGACAGGATAGGGAGATGTGAGGAGAGTGGGGGGCTGTCGGGGCGAGACTTGGGACTGGATATTGAGTCTCCTTAGTCCAGTGTGGGACATCACAGAGAGACATGGAGGAGGCTGGAGGCCCTGCTGGGAGCCTCAGGACTTAGATCCTGAATTGGGATGGCAGGGATGGATGGCCCATGGCCCCTGGGAGCTGAGACCAGCACTGACAGGTGCTGAGGACCCTGGGACCTAGTTCCAAGAGGCGGCTGTGTTTCTGGGGTAGAGGCTTTGAGGGGACCAGGAGCAGCCTTCCTGGGTGGGGCCAGAGTGGACAGGGCAGTCAAACCAGCCAGACAGGAAAGAGAAGGCCAGGATGTGCAGAAGTGCCCTCACCGGCAGAGGGCAGGTGGGGAGCAACCAGCCTGGTAGGAGTGGGTCCCCCAGGACAGGCAGGCTTCCTGGCAGAGGGGTCCCGAAGCTGTGCTCTGCCAGGGAACATCCCAGAGTCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAANNN
|
benign
| 304,785 |
Chromosome 19, position 40394272, gene PRX (periaxin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
AGGAGACCTCTGGAGAAGGGGTGCAGAAGCTGCTGGGTCCCCAAGGGGATGCAGGAGAGAGTTTGGGAGTTGTCAGCACAGAGAGGAGGCGTGGAAGCCATGGGGGAGGGTGATGCACCCTAGGGAGGGTGTGGGGGTGGACAAGGGCCCGGGAGGAACCTCCGGTGCCCAAGGAGCACGGGGAGAGAGAGGTGTGGGGAAGAGGAGCAAGTGTCAGGAAGATCGAAGGGGCCTTGAAGAGTCAGGACAAGAGAGACAAAGGAAACCCTCAGGCGTGGCCACGGGGAGGTCACTGCTGACACAGACAAGGTAGGAGGAAAACCCCAAATGCTGGGGTCTTGGAAATGGGGGTGCACTGTGAGTGTAGATAACTCCTGCCATGTTTGGTGGGGGCAAAGAAAAAGTGTGTGGTGAGACAGTGACCTGAGGAGGGCTGGCTGGAAGGGACAAGGTACTCAAGTGAGTGGGGGATTCTGCCAGGCCCCTCATCCACTGAGACAGGATAGGGAGATGTGAGGAGAGTGGGGGGCTGTCGGGGCGAGACTTGGGACTGGATATTGAGTCTCCTTAGTCCAGTGTGGGACATCACAGAGAGACATGGAGGAGGCTGGAGGCCCTGCTGGGAGCCTCAGGACTTAGATCCTGAATTGGGATGGCAGGGATGGATGGCCCATGGCCCCTGGGAGCTGAGACCAGCACTGACAGGTGCTGAGGACCCTGGGACCTAGTTCCAAGAGGCGGCTGTGTTTCTGGGGTAGAGGCTTTGAGGGGACCAGGAGCAGCCTTCCTGGGTGGGGCCAGAGTGGACAGGGCAGTCAAACCAGCCAGACAGGAAAGAGAAGGCCAGGATGTGCAGAAGTGCCCTCACCGGCAGAGGGCAGGTGGGGAGCAACCAGCCTGGTAGGAGTGGGTCCCCCAGGACAGGCAGGCTTCCTGGCAGAGGGGTCCCGAAGCTGTGCTCTGCCAGGGAACATCCCAGAGTCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAA
|
AGGAGACCTCTGGAGAAGGGGTGCAGAAGCTGCTGGGTCCCCAAGGGGATGCAGGAGAGAGTTTGGGAGTTGTCAGCACAGAGAGGAGGCGTGGAAGCCATGGGGGAGGGTGATGCACCCTAGGGAGGGTGTGGGGGTGGACAAGGGCCCGGGAGGAACCTCCGGTGCCCAAGGAGCACGGGGAGAGAGAGGTGTGGGGAAGAGGAGCAAGTGTCAGGAAGATCGAAGGGGCCTTGAAGAGTCAGGACAAGAGAGACAAAGGAAACCCTCAGGCGTGGCCACGGGGAGGTCACTGCTGACACAGACAAGGTAGGAGGAAAACCCCAAATGCTGGGGTCTTGGAAATGGGGGTGCACTGTGAGTGTAGATAACTCCTGCCATGTTTGGTGGGGGCAAAGAAAAAGTGTGTGGTGAGACAGTGACCTGAGGAGGGCTGGCTGGAAGGGACAAGGTACTCAAGTGAGTGGGGGATTCTGCCAGGCCCCTCATCCACTGAGACAGGATAGGGAGATGTGAGGAGAGTGGGGGGCTGTCGGGGCGAGACTTGGGACTGGATATTGAGTCTCCTTAGTCCAGTGTGGGACATCACAGAGAGACATGGAGGAGGCTGGAGGCCCTGCTGGGAGCCTCAGGACTTAGATCCTGAATTGGGATGGCAGGGATGGATGGCCCATGGCCCCTGGGAGCTGAGACCAGCACTGACAGGTGCTGAGGACCCTGGGACCTAGTTCCAAGAGGCGGCTGTGTTTCTGGGGTAGAGGCTTTGAGGGGACCAGGAGCAGCCTTCCTGGGTGGGGCCAGAGTGGACAGGGCAGTCAAACCAGCCAGACAGGAAAGAGAAGGCCAGGATGTGCAGAAGTGCCCTCACCGGCAGAGGGCAGGTGGGGAGCAACCAGCCTGGTAGGAGTGGGTCCCCCAGGACAGGCAGGCTTCCTGGCAGAGGGGTCCCGAAGCTGTGCTCTGCCAGGGAACATCCCAGAGTCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAANNNNNN
|
benign
| 304,786 |
Evaluate this variant at chromosome 19, position 40395153, gene PLD3: benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4', 'Spinocerebellar_ataxia_46']
|
GTGGGGAGCAACCAGCCTGGTAGGAGTGGGTCCCCCAGGACAGGCAGGCTTCCTGGCAGAGGGGTCCCGAAGCTGTGCTCTGCCAGGGAACATCCCAGAGTCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTG
|
GTGGGGAGCAACCAGCCTGGTAGGAGTGGGTCCCCCAGGACAGGCAGGCTTCCTGGCAGAGGGGTCCCGAAGCTGTGCTCTGCCAGGGAACATCCCAGAGTCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGN
|
pathogenic
| 304,809 |
The genetic variant at chromosome 19, position 40395253, affecting gene PRX (periaxin): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4F']
|
TCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAG
|
TCCTCTTTAACAACCCCTGGGAATTCTCAAGGGCTAGGGACGTCTCCCTTCCCACCACGGCCTGTCCCAAGGCCATCCTGAGTCTTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCATGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGN
|
pathogenic
| 304,810 |
Gene PRX (periaxin) variant at chromosome 19, position 40395337—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_4']
|
TTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCA
|
TTTGTTTTTGTTTTTGTTGAAACAGTCTGGCTCTGTTGCCTAGGCTGGAGTGCAGGGGCACCATCAAGGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCCACCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGGGCCACCATGCCTGGATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGACCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGC
|
pathogenic
| 304,811 |
A genetic alteration at chromosome 19, position 40395498, in gene PRX (periaxin)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Inborn_genetic_diseases']
|
ATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCACCACTACCGACACAGCCCCTTCCCGGGTCTCTAGGCAGGGAAGTGTGGGCAGAGTGGGCAGTGAGGGCAAGGCAGGCAGCTCCACCTGGGGGACCTGGATTCCCACGGCTGGGGCCTCCACAGCAGGCGGAGCCGGGGCTCCGAGCCCAAGGGTTGGCAGG
|
ATATTTTTTGTATTTTTTGTAGGGATGAGGTTTCCCTATGTTTCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCACCACTACCGACACAGCCCCTTCCCGGGTCTCTAGGCAGGGAAGTGTGGGCAGAGTGGGCAGTGAGGGCAAGGCAGGCAGCTCCACCTGGGGGACCTGGATTCCCACGGCTGGGGCCTCCACAGCAGGCGGAGCCGGGGCTCCGAGCCCAAGGGTTGGCAG
|
pathogenic
| 304,817 |
A genetic alteration at chromosome 19, position 40395564, in gene PRX (periaxin)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Autosomal_recessive_Dejerine-Sottas_syndrome', 'Charcot-Marie-Tooth_disease_type_4']
|
GGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCACCACTACCGACACAGCCCCTTCCCGGGTCTCTAGGCAGGGAAGTGTGGGCAGAGTGGGCAGTGAGGGCAAGGCAGGCAGCTCCACCTGGGGGACCTGGATTCCCACGGCTGGGGCCTCCACAGCAGGCGGAGCCGGGGCTCCGAGCCCAAGGGTTGGCAGGTGGAGGGCAAAGCCACCAGCTGCCTCTGCTGAGGGGGCAGCCTTGGGGGCTGAGACCTGGGGGACA
|
GGCTCAAGCAGTCCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCACCACTACCGACACAGCCCCTTCCCGGGTCTCTAGGCAGGGAAGTGTGGGCAGAGTGGGCAGTGAGGGCAAGGCAGGCAGCTCCACCTGGGGGACCTGGATTCCCACGGCTGGGGCCTCCACAGCAGGCGGAGCCGGGGCTCCGAGCCCAAGGGTTGGCAGGTGGAGGGCAAAGCCACCAGCTGCCTCTGCTGAGGGGGCAGCCTTGGGGGCTGAGACCTGGGGGACAN
|
pathogenic
| 304,818 |
Evaluate if the mutation on chromosome 19 at position 40395576 in PRX (periaxin) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_4']
|
CCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCACCACTACCGACACAGCCCCTTCCCGGGTCTCTAGGCAGGGAAGTGTGGGCAGAGTGGGCAGTGAGGGCAAGGCAGGCAGCTCCACCTGGGGGACCTGGATTCCCACGGCTGGGGCCTCCACAGCAGGCGGAGCCGGGGCTCCGAGCCCAAGGGTTGGCAGGTGGAGGGCAAAGCCACCAGCTGCCTCTGCTGAGGGGGCAGCCTTGGGGGCTGAGACCTGGGGGACACCCACCTCCGCC
|
CCTCCTGCTTTGGCCTCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCGCCCAACCCGCCCTGACTCTTCTCAGACCAGGTATGACCGGTTTCTCCCCTCACACCAGAGGTTCCCCTCAGGCCAGGCTCAGGCGACCCCTAGAACCTCCTCTTTGGAGACTGCCTTCTCTGCATCTCCCCTATACCCACTCCTGCCCCTCCCTGCCCCCTATGCACACAGAGGAGACAAATACATGGCTACTTCCAGATTATTTTATTCACATGGCTTGGTGGGGTACAGGCACTCCTGCCAGAGAGACAGGAGCAGGCCTCCCTGCCAGCCCTGGTCAGTCACCCACCTCCCGGCCCTCTTAGGGTTAGTGCTAGTTATCACACACACAACAGCGAGGGGGTAGAGAAAGGAAGGCAAGAAGGGATCCCCATCTGACTAGGGGCTTCAGACAGCCGCAGCCTGAGCCCCCTCCATCCTGGCCGGGCCTGGAGCCCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTAGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCACCACTACCGACACAGCCCCTTCCCGGGTCTCTAGGCAGGGAAGTGTGGGCAGAGTGGGCAGTGAGGGCAAGGCAGGCAGCTCCACCTGGGGGACCTGGATTCCCACGGCTGGGGCCTCCACAGCAGGCGGAGCCGGGGCTCCGAGCCCAAGGGTTGGCAGGTGGAGGGCAAAGCCACCAGCTGCCTCTGCTGAGGGGGCAGCCTTGGGGGCTGAGACCTGGGGGACACCCACCTCCGC
|
pathogenic
| 304,820 |
Determine if the mutation at chromosome 19, position 40396062 in gene PRX (periaxin) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Autosomal_recessive_Dejerine-Sottas_syndrome', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4F']
|
CCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCACCACTACCGACACAGCCCCTTCCCGGGTCTCTAGGCAGGGAAGTGTGGGCAGAGTGGGCAGTGAGGGCAAGGCAGGCAGCTCCACCTGGGGGACCTGGATTCCCACGGCTGGGGCCTCCACAGCAGGCGGAGCCGGGGCTCCGAGCCCAAGGGTTGGCAGGTGGAGGGCAAAGCCACCAGCTGCCTCTGCTGAGGGGGCAGCCTTGGGGGCTGAGACCTGGGGGACACCCACCTCCGCCCCTGGCAGCCGCGGCCCAACCAGCTCCACCTGAGGGGCTGTGAAACGAGCTCCTGCAGCCACCTCAGCCTCCACCTTGGCTTTCCTGGGGGGAGGAGCGGCGGCGGCCAGCCGGGCTGCCTGAGCCTCTTCGGCCACTTCTCGTACACGCAGCCGAGGCAGCTGGAGGCGCCGGCGGGCAGGGGCAGCCGGGACAGGACCCTTGACAGCCTCGGCTTTGAGGCCCCGACGCAGGCGGGAGAACTTGGGAAAGGAGAACTCGACGTCAACAGGGGCCAGGTCAGCGGGGACCCCCAGAGCCCCAGGCACCATCTTCTTCTTCTTCACAGGGGACAGACTCTGGATGTTCTGGGGAGAGAGGAGAGAGGCAGGAGGCGGTGGGACAGTGGGAGGCTGGGAGTGGACAGGAAGAGCCCCACCTGGTATTGGACCAGGCGGGGGATGTGCTGGGTCAAGTATCTTGTTCCCCAAACATCATCCCCACTTC
|
CCCTGTCTCTGAAAACCCCACGCTGGGCAGCCGCACCCGCAATCCACCCTCTTCCTGGTCCCCACTCCCACTCCGGGCCTTGGGGCTTAGGGACACCCTGGGGAAGCGGAACTTGGGTGACTTCTCTCTGACGGGGGACTTGGGGGCTGCATCGCCCTCCTGCCCCCGAGAGGCTTTAGAAGGGGCCGCCAGGCCTACACGTGGCAAGCGGACCCGGACCCGGCCCCGGCGACCCGAGGCCCCTTCCCCACTGCCCTCTTCCTCCTCCTCCTCCTCCTCCTCGGGGCTGGGGGACCCTTCCCCAGTGACCATCTCACTTTGGCTGAAGCCCACTCGGGGCAGCCTGAGTTTGGGGCTCTTGGCCTTCTCACCCTCCTCGGCCCCCTCCTTGGCCCGCACCAGGCCAAACCGGGGCAGCCGTACCTTGAGCTTGTGTCCGGCCTCTCCCTCCCCCTCTGCCACCTGGTACTCGGCATGGTTGCCCCCGGATGGCGAGAGCTCCACGTCGGGCAGTGAGAGGCAGAAGGTACGCTCGGCCCCTGGGGGCTGCTCCTCAGCACCCTCGCCCCCCACCCTAGCTCTGGCCCCCAGTGTGGGCAACTTCAGCCTCAGCCCACCCTCGCCTGTGGCCGCCTCGCCCGCCTGTGCCTCTCGGCTTAGCCCCACGTCCAGCTCAAGCTGGGGCACTGTCACGGTGGGCATCTTAAAGACACCCTCACCCACCAGCAGCTCACCACCTGCAACCTGGGCTCCAGGCAGAGACAGGGTCACCTGGGGCACCTGAACCCTGTAGCCTGCTGTGCCCTCTGCTGAAGGGACTGTACTCTGAGCCTGCTGCCCTGGGGTACCTGCCTCCCCAAAGCCGGTCAGCTCCACCTGTGGCAGGGAGATGCCCAGCGGAGGCATCCTCAGCCCCGCGTCATGGCCCTCAGTGACCACCTGCCCGGCTGTGGACACCTTCAGGCCTGACAGCTGCATTCCACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCTTAAGCTGCACAGCGGTGGACTCAGCCTTTTCCCCCGGGCTGGCACGATCACCTTGAACTTCTGCTTCCTTCCCTCGAGCCAGCCCAAAGGAAGGCATCTTCAGCTTGGGCATCTTCACCCTCCCATCCCAGCCCCAGCCCTTGCCCTCCAACTCAGCCACCCCTGGCACTAGTTCTGCTGCCTCAGTGTCCCGGCCTCTGACCCCAAACTTGGGGAGAGCAAACCTGGGCCCCTTGAACTTGAGGTCGGCCCCTGCCACCTCTACCTTGCCTGAGGGCAGGTGGGCATCCAGGCTGAGCTGTGGGATGGACAGATCGAGGGCAGGCAGCAGGCCTGCCTCCCCAGCCCCTTTGGCCTCAGCCTCAGCCCCCACCCGAGCCTTGGGGAGTGAGATGGCAAATTTGGATACCTTCAGCTTGGTAGCTCGCCCAGCCCCCTCAGCCTCTGCCTTAGCCACCTTTGGCCCCGAGAGTCCAAACTTAGGTAAGGAGAACTTGGAAGAGGGCTTGACTTTTGTCTCTATCATCTCCAGCCGCCCTTCCTCAATTTCCACGGCGGGCAGCTGTGGGGTGACAATTTCAACAGAGGGCACTCGGAAGCCCACTTCCCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCACCACTACCGACACAGCCCCTTCCCGGGTCTCTAGGCAGGGAAGTGTGGGCAGAGTGGGCAGTGAGGGCAAGGCAGGCAGCTCCACCTGGGGGACCTGGATTCCCACGGCTGGGGCCTCCACAGCAGGCGGAGCCGGGGCTCCGAGCCCAAGGGTTGGCAGGTGGAGGGCAAAGCCACCAGCTGCCTCTGCTGAGGGGGCAGCCTTGGGGGCTGAGACCTGGGGGACACCCACCTCCGCCCCTGGCAGCCGCGGCCCAACCAGCTCCACCTGAGGGGCTGTGAAACGAGCTCCTGCAGCCACCTCAGCCTCCACCTTGGCTTTCCTGGGGGGAGGAGCGGCGGCGGCCAGCCGGGCTGCCTGAGCCTCTTCGGCCACTTCTCGTACACGCAGCCGAGGCAGCTGGAGGCGCCGGCGGGCAGGGGCAGCCGGGACAGGACCCTTGACAGCCTCGGCTTTGAGGCCCCGACGCAGGCGGGAGAACTTGGGAAAGGAGAACTCGACGTCAACAGGGGCCAGGTCAGCGGGGACCCCCAGAGCCCCAGGCACCATCTTCTTCTTCTTCACAGGGGACAGACTCTGGATGTTCTGGGGAGAGAGGAGAGAGGCAGGAGGCGGTGGGACAGTGGGAGGCTGGGAGTGGACAGGAAGAGCCCCACCTGGTATTGGACCAGGCGGGGGATGTGCTGGGTCAAGTATCTTGTTCCCCAAACATCATCCCCACTTCN
|
pathogenic
| 304,837 |
Is the genetic variant on chromosome 19, position 40397724, gene PRX (periaxin), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4F']
|
CCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCACCACTACCGACACAGCCCCTTCCCGGGTCTCTAGGCAGGGAAGTGTGGGCAGAGTGGGCAGTGAGGGCAAGGCAGGCAGCTCCACCTGGGGGACCTGGATTCCCACGGCTGGGGCCTCCACAGCAGGCGGAGCCGGGGCTCCGAGCCCAAGGGTTGGCAGGTGGAGGGCAAAGCCACCAGCTGCCTCTGCTGAGGGGGCAGCCTTGGGGGCTGAGACCTGGGGGACACCCACCTCCGCCCCTGGCAGCCGCGGCCCAACCAGCTCCACCTGAGGGGCTGTGAAACGAGCTCCTGCAGCCACCTCAGCCTCCACCTTGGCTTTCCTGGGGGGAGGAGCGGCGGCGGCCAGCCGGGCTGCCTGAGCCTCTTCGGCCACTTCTCGTACACGCAGCCGAGGCAGCTGGAGGCGCCGGCGGGCAGGGGCAGCCGGGACAGGACCCTTGACAGCCTCGGCTTTGAGGCCCCGACGCAGGCGGGAGAACTTGGGAAAGGAGAACTCGACGTCAACAGGGGCCAGGTCAGCGGGGACCCCCAGAGCCCCAGGCACCATCTTCTTCTTCTTCACAGGGGACAGACTCTGGATGTTCTGGGGAGAGAGGAGAGAGGCAGGAGGCGGTGGGACAGTGGGAGGCTGGGAGTGGACAGGAAGAGCCCCACCTGGTATTGGACCAGGCGGGGGATGTGCTGGGTCAAGTATCTTGTTCCCCAAACATCATCCCCACTTCTTGCCTGTCATTTCACCATGAGTGCCCAGGAAAGCAGGCAGCCATCTAGGATCTCCAAATGAGTCAACAGGAGTGTAGGGACGGGGACCCAAGACTTCTAGATCCTGATCCGGGATTTTCCCCAACATCCTCATTCTAGAGATGGGGAAACTGAGGCCCAGGGAGAGAAACAACTTTGTCCAGGGCCACTCAGCAGTAATTGGGCCAGCACTCAGGCTGGAATCTGGCTTTCCTGGTTCGAAGTAGCCTGGTTCAGGACCCCTAGCAAGCCTGGATCCGATGGTGGGGACGCCTCTCCGAGGTGGGTGAGGGCCCTGGGCTGGGGTGGGTCTGTCCCCCTTCCCGGGGAAGAGTTTGGGGCAGAGAGGAAGGGGCAGAGGGTGGAATTAGCTTGGGTTAGTGACAAGACAGAGGGCAAGGCTGGCCCACGATGGCGGGGAATGGGGCTCACGGCGCAGAGACCGGATCGCTGGGGCAGTCCAGGGCCGGGGCCGGGCTAAGCACGCGTACCAGCTTGGCCACCTTGGCCCGCGGGCCCTTGATCTCGTAGCCAGACACGGTCCCGGGCCGCAGAGCCAGGTCCCCGGTGGGCACAGTGCGCTTCAGGCAGAAGGAGACTTTGTAAGGCTCGGCGCATTGCAGCAGGCGTAGTGCGTCCTCGTACTTGAAGTTCTCGAAGAACACTCGGGCACTCAGCAGCTGGTCCCCTGCGGGCGAGGTGGAGGTGCGCAGCACGTGGGCATCTCCCGGCTCCGCCCGGGCCTAGTTCTGCCCACTTGCACGGAGCCCTCGCGGTGAGGACCCGCCCCAAATTTTAGTTTCTCCAATCCCCAGCGCAGGATTAAGTCGCAGTTACGCTAGTCCCCGCCCCATGACCTTATCCCCGCCCCCTGCAATGAACAAAGCCGCGCCCACTCAGGCCACGCCCGCACCTTGTCGCTCCCCTACCCATCCTTACGTTTCAGATACTGACTTTGCTTCTTTTACCGAGAGAACAGAATCAGAAGGGAACTTCCAGAATCTCCCACACTGTGTGTTCACCCCCTTTCTCCTGCGGCGACTTACTCCATTCGCCTTCCTGTTCCTGGGGATGAACTAACCCCACTCCTAGCTCAGGGCAATCTCTCCACCGCCTTCTCAGGGACATCCTCCAGCAATTCTCTCCTCTTCCCACGTCATCAGTTGTCCTTCTCGTCTACATTATTCCCATCAGCATACAAACATATTATTATTTCTCGCATAAGAAAGGTTGTCATGGCCTCACTCCCCCGGAGCTCCTGCCCCATTTATCTGTTCACCTTAATAGGCAAAAGGTATTGAGTTCTCCAGTGGCATTGTTACCAGTTCTCCAGTCACACCTCTGACCCTGCTTTCCAACACGCACATCTGAACTGCTCCTCTCAAGGTTCCAGGCAGTGACCTCTGTATAGTAAGTCCAAGGGTCAAGTCCCAGGCCTCATCTGCTTAAACCACTCAGCATCTGATCTAACCTCACTCTCTGTCATATCCTTGCTTCCCTTGGCTTCCAAGGTGCTACACCCTCTGGAGCGTCTCTGGGAGTTCCTTGTCAGTCTCCATAGATGTTTGCTTTCCCTCTCCCTGATTTCTTTCTTTCTTTTCTAAACAGTCTCACTATGTTGCCCAGTCCAATCTCAAATTCCT
|
CCTGACCCCTGCTGCCACCTCAGGGCCCTCCACCCGCTCTCCCTTGCCCATTTTAGCGGCTGGGACCTGCCCCTGCAGGCCAAGTGCTCCTGGCAGGTCTAGCTCCACTGAAGGCAGAGTGAGAGAGGGGACACCCACATGAGCCTCACCATCCACCTCTGGCTGCAGACAGGGAAGTGTTACCAGCTTCCCTGAGACCTCAGCACCCGCCTCGCCTGGCTTGCCACGTGATGGGGACTCTGCCCTCCCTAGCTTGGGCATGGTCATCTTGGGCATCTTGAAGCCAAATTCCATCCCTTCTGCCTGTTCTGCCTTGGTGGCCTTTAGCTGCACCTCCGGAGCCCTGGGCAGCTTCACCTCTGGTGCCTTCGGAAGATGCACGTCGGGAACCTTCGGCACTTGCATTTCCGGCAGCCGAATCTCTGACACTTTCGGCAGCTGCACCTCGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCTGGGAGGTGCACATCGGGCACGGCCATTTCAGGCACCTTGGGGAGTTTCATCTCTGAGACTTTTGGCAGCTGCACCTCGGGGAGTCGAACCTCTGGCACAGCCATCTCAGGCATTTTAGGGAGTTTCATCTCTGGGACTTTCGGGAGCTGCACTTCCGGGAGGTGCACATCGGGCACAGCCATCTCGGGCACCTTCGGGAGTTTCACCTCAGGGAGTTTCATCTCAGGGAGCTTCATCTCTGGGACTTTTGGAAGCTGCACTTCTGGGAGGTGCACATCGGGCACGGCCATCTCGGGCACCTTCGGGAGTTGCACTTCAGGGAGTTTCATCTCAGGAAGTTTCATCTCAGGCACCTTTGGAAGCTTCATCTCAGGGACTTTCATCTCTGGCACTTTCGGCAGCTGCACCTCTGGAAGCCGCACCTCTGGCACAGCCACCTCTGACACCTCTGGGAGTTTCATCTCTGACACTTTCGGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCCGACACTTTCAGCAGCTGTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACTTTGGGCAGCTCTACCTCTGGAAGCCGCACCTCCGGCACAGCCATCTCTGGCACCTTTGGGAGTTTCATCTCTGACACCTTGGGGAGCTCCACCTCTGGGAGTCGAACCTCTGGAAGGGCTGCCTCGGGCACTTTTGGAAGCTTGACCTCAGGAGCCTTGGGGAGCTTCACTTCAGGTCCCTTGGGCACCTTGACCTCGGGCCCTGACACTCCGATGCCAAGGGAGGGCATCTTGATGGTGGGCAGCTTCAGCTTGCTCTCTACAACTTCAGGAGCAGCGGGCCGGGGCTCCAAGAGGGAAAGCCCAAAGGTGGGCATTCGAAGTCTGGGACCTTTCACCCTGGCCTCAGGGCTGACCTTGGCTACCTTGGCCTCAGCAACTTCCTTTGCTCGAGCCCCAAATCGGGGAAAACTAAGGCGGGGCATCTTCAGGGCCACCTCAGGTGCCTCTCCCCGGGCCTCCACCTCTGCACCCGGCAAGGCCAGGTCCACCCCCACAGTCGGTGCTGCCACATCCAGGGTGGGCACCACTACCGACACAGCCCCTTCCCGGGTCTCTAGGCAGGGAAGTGTGGGCAGAGTGGGCAGTGAGGGCAAGGCAGGCAGCTCCACCTGGGGGACCTGGATTCCCACGGCTGGGGCCTCCACAGCAGGCGGAGCCGGGGCTCCGAGCCCAAGGGTTGGCAGGTGGAGGGCAAAGCCACCAGCTGCCTCTGCTGAGGGGGCAGCCTTGGGGGCTGAGACCTGGGGGACACCCACCTCCGCCCCTGGCAGCCGCGGCCCAACCAGCTCCACCTGAGGGGCTGTGAAACGAGCTCCTGCAGCCACCTCAGCCTCCACCTTGGCTTTCCTGGGGGGAGGAGCGGCGCGGCCAGCCGGGCTGCCTGAGCCTCTTCGGCCACTTCTCGTACACGCAGCCGAGGCAGCTGGAGGCGCCGGCGGGCAGGGGCAGCCGGGACAGGACCCTTGACAGCCTCGGCTTTGAGGCCCCGACGCAGGCGGGAGAACTTGGGAAAGGAGAACTCGACGTCAACAGGGGCCAGGTCAGCGGGGACCCCCAGAGCCCCAGGCACCATCTTCTTCTTCTTCACAGGGGACAGACTCTGGATGTTCTGGGGAGAGAGGAGAGAGGCAGGAGGCGGTGGGACAGTGGGAGGCTGGGAGTGGACAGGAAGAGCCCCACCTGGTATTGGACCAGGCGGGGGATGTGCTGGGTCAAGTATCTTGTTCCCCAAACATCATCCCCACTTCTTGCCTGTCATTTCACCATGAGTGCCCAGGAAAGCAGGCAGCCATCTAGGATCTCCAAATGAGTCAACAGGAGTGTAGGGACGGGGACCCAAGACTTCTAGATCCTGATCCGGGATTTTCCCCAACATCCTCATTCTAGAGATGGGGAAACTGAGGCCCAGGGAGAGAAACAACTTTGTCCAGGGCCACTCAGCAGTAATTGGGCCAGCACTCAGGCTGGAATCTGGCTTTCCTGGTTCGAAGTAGCCTGGTTCAGGACCCCTAGCAAGCCTGGATCCGATGGTGGGGACGCCTCTCCGAGGTGGGTGAGGGCCCTGGGCTGGGGTGGGTCTGTCCCCCTTCCCGGGGAAGAGTTTGGGGCAGAGAGGAAGGGGCAGAGGGTGGAATTAGCTTGGGTTAGTGACAAGACAGAGGGCAAGGCTGGCCCACGATGGCGGGGAATGGGGCTCACGGCGCAGAGACCGGATCGCTGGGGCAGTCCAGGGCCGGGGCCGGGCTAAGCACGCGTACCAGCTTGGCCACCTTGGCCCGCGGGCCCTTGATCTCGTAGCCAGACACGGTCCCGGGCCGCAGAGCCAGGTCCCCGGTGGGCACAGTGCGCTTCAGGCAGAAGGAGACTTTGTAAGGCTCGGCGCATTGCAGCAGGCGTAGTGCGTCCTCGTACTTGAAGTTCTCGAAGAACACTCGGGCACTCAGCAGCTGGTCCCCTGCGGGCGAGGTGGAGGTGCGCAGCACGTGGGCATCTCCCGGCTCCGCCCGGGCCTAGTTCTGCCCACTTGCACGGAGCCCTCGCGGTGAGGACCCGCCCCAAATTTTAGTTTCTCCAATCCCCAGCGCAGGATTAAGTCGCAGTTACGCTAGTCCCCGCCCCATGACCTTATCCCCGCCCCCTGCAATGAACAAAGCCGCGCCCACTCAGGCCACGCCCGCACCTTGTCGCTCCCCTACCCATCCTTACGTTTCAGATACTGACTTTGCTTCTTTTACCGAGAGAACAGAATCAGAAGGGAACTTCCAGAATCTCCCACACTGTGTGTTCACCCCCTTTCTCCTGCGGCGACTTACTCCATTCGCCTTCCTGTTCCTGGGGATGAACTAACCCCACTCCTAGCTCAGGGCAATCTCTCCACCGCCTTCTCAGGGACATCCTCCAGCAATTCTCTCCTCTTCCCACGTCATCAGTTGTCCTTCTCGTCTACATTATTCCCATCAGCATACAAACATATTATTATTTCTCGCATAAGAAAGGTTGTCATGGCCTCACTCCCCCGGAGCTCCTGCCCCATTTATCTGTTCACCTTAATAGGCAAAAGGTATTGAGTTCTCCAGTGGCATTGTTACCAGTTCTCCAGTCACACCTCTGACCCTGCTTTCCAACACGCACATCTGAACTGCTCCTCTCAAGGTTCCAGGCAGTGACCTCTGTATAGTAAGTCCAAGGGTCAAGTCCCAGGCCTCATCTGCTTAAACCACTCAGCATCTGATCTAACCTCACTCTCTGTCATATCCTTGCTTCCCTTGGCTTCCAAGGTGCTACACCCTCTGGAGCGTCTCTGGGAGTTCCTTGTCAGTCTCCATAGATGTTTGCTTTCCCTCTCCCTGATTTCTTTCTTTCTTTTCTAAACAGTCTCACTATGTTGCCCAGTCCAATCTCAAATTCCTN
|
pathogenic
| 304,895 |
The mutation in gene PRX (periaxin) at chromosome 19, position 40403712—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4']
|
CATGGTCCCACCTTGGGGCATTTTTGCTGTCTGTTCCCTCTTCCAGATGGCCTCATAGCTTGTTCCCTTACCTCCTTTAGCCTTTTCACCCTTTCCAGCCCACCCCTTTTTTTTTTTTTTTTTAGGCGGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGAAGTGGCGCGAACTCGGCTTACTGCAACCTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCCTACCACCACACCCGGCTAATTTTTGAATTTTTAGTAGAGACAGAGTTTCGCCATATTGGCCAGGCTGGCCTCGAACTCCTGACCTCAGGTGATCAGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATGCACCCAGCCAAGCCCACCCCCATTTAAAAATGCAGCTGTAGGCCGGCCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCAGAAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGTAGTCCCAGTTACTAGGGAGGCTGAGGCAGGAGAATGGCGTGAACACGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAAATAAATAAATAAATAAAATAAAATAAAATAATAAAAATGCAGCTGTAGCACATTGTCCTCCTGGCAACTGTAGCACTTACTGCTTTCTAATTTACTAGGTATTTTACTTAATTTGCTTAAATATGTCTCTCCCGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTTGTGGGCGCCTGTAGTCCCTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAATCTCTCCCCACTGGAATGTAAGCTCCATAAGTGCAGGGACTGTTGTTCAGTTTTGTTCACGGCTGAAGCCCAAGCAGCTAAGATAATGTCTGACATAGGGTGGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCGGATGGATCACCTGAGGTCGGGAGTTCGATACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGAGGGGACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCGGAGGTGGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGAGAAACTCCGTATCAAAATACATAAATAAATAAAGTCTGAAATAGAAGGCACTAATAAATAGTTGTTGCATGAATAAATCACGTCAGCTTCATCCATATCCTAAAACATCCTTTACTCTTCCCAACCCCTCTAAGTGGCTCACTCCACCCTTTTCTCCTGCCCCAACAACAAAAACATTTACTAGCACTCACATAGTTAAGCACTATGTGCCACTTAGCTATGTGCTAAGTGTTTTCACATACTGACTCGTTAAATCCTCAATACATAATAACCCCATACTAGAATAAGTCCCATTTCAGAGATGAGAAAACTGAGGCACAGAAAGATCACAAGCTAGTAAACGGGGGATGTGAAATTCGCACCCAGACAGTGAACCTCCGGAATTTGCTGTGAACAGTCAGCAAAGCCCCGCCCCAAGCCCTTAACCCCTCCTGGTCGCCGGTCACGCCCCCATCCCCCGGTCAGTTTCAGCCTCTCTTTGGACCCAAGGCAGATTCCTAACCCCGCCCCCGCAGTTCGACCCCGCCCCACACCCCGGGCCCGCCCACCTTCCTGCAGGCTGAGGCTCCTGGCGGCGGGTGAGTCCTCGCGCAGCTCCCGAACGAAGATTCCCTCTTTGCCGCCGCCCGCTACGTTGATGCCGCTGACCCCGGTCTGCGCCTCCGTCTCCACGATAATTTCCACCAACTCCGCCCGCCTCAGCTCCTGCAGAGGGCGGCGAGGTGTCGCGTTGGGGCTCTAGGGCCGGACCTCGCCCAGAGCCCGCCATTGCGCTCAACAGTGGCTCATATACATATATATGTTTATATATATTTAGAGACGGGGGTGGGGGACGGTCTCGCCACACTGCCCAGGCTGGTCTCGAACTCCTCCTGGGCCCAAGGGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAGCGGCTGTTCAGCGGGCCTTCAGGGCACACGCCCCTCGGCGCTGCCCTCGCAGGACGTCGGGGCACACCCACTCCGGCGTCTCCCCTTTAAGCAAGCCTGAGGGCAGCTGGCTTTCTAGGACCCGCGGAACGGTTAAACAGCTCCGCGGGCCGGCTGGCCTCTCCGAGGCCCTGGAGCGGCAGCCGAAAGGGGTTAGGGGAGGAGACGGGGTTGTAAGGGGAGGGACTGCGTCGGAGTGGGCTGGAGATAACTTGAGTTGTGATTGAGAGGCGGGACCAGGATCGTGGGGGCGTGGTCAGGTCGGGAGGGCGGGGCTGGGGGGGGTTGGTGCGGGTAGGAGGGGTAAGACAACACAGGCCTGAGAGGAAGAGCCAAATGGGGTATAGAAGGGTGCAAAAGATAGGAGAGGAATGTGGCCAGAGTTTATGGGAGGTTATTTGGAGCTGGGGCGGAGACCCTTATTATTTTTTTGTTGGGGGAGACAGGGTCTCTCACTCTGTCCCCAGGCTTGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACCTCCTTAAACTCAAGCAGACCTTCCGCTCCGGTCTCCCAAGTAGTTGGGAACATAGGCACGCGCCACCACGCCCAGCTAATTTTTAATTTTTTTTTTAAGAGACAGGGGTATCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCTCCTGTCTCAGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACTGCATCTGGCCCGGAGACCCATATTCTACAAACTGAATTTAACTATGGGGGAGGGGCTTTAATTACAGCAGAACAAGAGAATAGTTGAGGATGGGATTCTGAGGAAGGGGCTGGCTGGACCTTCAAGCCCTCTGGGATTGGGGGGACAGGGAGTGGGATTTGCCTCCCTGCAGGCTTGAATGTGTGTGAGAATGTGCTCTATTGTAAATTCAATGACCCGAAGACCTGTGAAACGCCCACAGGAGAGGGAATCCAGTGAAGGGGGTCTGCGTGGGTAATGAATGGGACTGGGAGACATGGCATTCCCGGTATTTACTGTAAATGATGCAGATTGGACCTGGCCCAGAAGCCACTATGGGATTCACAATAGGGCTTCCCAGAAGAGGCAGTGACAAACCTGGATCCTGTCTAGGAATCCAATCTGCTGTGTGTCTTAGGAAGAATCTTGCCCTCTCTGGACCCACTTCCCTGCTGCAAAATAGGGTAACATAGGCATACTGGAAGGAGGTTGCAGTAGGGATCTGAGAGGACACTGTCATGGCCAACGCACTGGGGCCAGCACGGACTGGAATTGAGCCCAGGACTTGGAGGGAGAGCAGGTCTAGGCCAGATGCCCCACAGCAGTGGCCCCAAGGGACTAGGGGGCTGAGCAGGGCAGTCTGGGTAAGGAGAGTTGTGGCTGGGACTGTAGGGAACAGCATGACCACCAGTACCGCCCTTTGGCTCAGCAGGCCCTGGGCTCAGCATTTTATGTGCAGAATCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCACCCAGGCTGGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTCAAGCGATTCTCCTGCCTCAGCC
|
CATGGTCCCACCTTGGGGCATTTTTGCTGTCTGTTCCCTCTTCCAGATGGCCTCATAGCTTGTTCCCTTACCTCCTTTAGCCTTTTCACCCTTTCCAGCCCACCCCTTTTTTTTTTTTTTTTTAGGCGGAGTTTTGCTCTTTCGCCCAGGCTGGAGTGAAGTGGCGCGAACTCGGCTTACTGCAACCTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCCTACCACCACACCCGGCTAATTTTTGAATTTTTAGTAGAGACAGAGTTTCGCCATATTGGCCAGGCTGGCCTCGAACTCCTGACCTCAGGTGATCAGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATGCACCCAGCCAAGCCCACCCCCATTTAAAAATGCAGCTGTAGGCCGGCCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCAGAAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGTAGTCCCAGTTACTAGGGAGGCTGAGGCAGGAGAATGGCGTGAACACGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAAATAAATAAATAAATAAAATAAAATAAAATAATAAAAATGCAGCTGTAGCACATTGTCCTCCTGGCAACTGTAGCACTTACTGCTTTCTAATTTACTAGGTATTTTACTTAATTTGCTTAAATATGTCTCTCCCGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTTGTGGGCGCCTGTAGTCCCTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAATCTCTCCCCACTGGAATGTAAGCTCCATAAGTGCAGGGACTGTTGTTCAGTTTTGTTCACGGCTGAAGCCCAAGCAGCTAAGATAATGTCTGACATAGGGTGGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCGGATGGATCACCTGAGGTCGGGAGTTCGATACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGAGGGGACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCGGAGGTGGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGAGAAACTCCGTATCAAAATACATAAATAAATAAAGTCTGAAATAGAAGGCACTAATAAATAGTTGTTGCATGAATAAATCACGTCAGCTTCATCCATATCCTAAAACATCCTTTACTCTTCCCAACCCCTCTAAGTGGCTCACTCCACCCTTTTCTCCTGCCCCAACAACAAAAACATTTACTAGCACTCACATAGTTAAGCACTATGTGCCACTTAGCTATGTGCTAAGTGTTTTCACATACTGACTCGTTAAATCCTCAATACATAATAACCCCATACTAGAATAAGTCCCATTTCAGAGATGAGAAAACTGAGGCACAGAAAGATCACAAGCTAGTAAACGGGGGATGTGAAATTCGCACCCAGACAGTGAACCTCCGGAATTTGCTGTGAACAGTCAGCAAAGCCCCGCCCCAAGCCCTTAACCCCTCCTGGTCGCCGGTCACGCCCCCATCCCCCGGTCAGTTTCAGCCTCTCTTTGGACCCAAGGCAGATTCCTAACCCCGCCCCCGCAGTTCGACCCCGCCCCACACCCCGGGCCCGCCCACCTTCCTGCAGGCTGAGGCTCCAGGCTGAGGCTCCTGGCGGCGGGTGAGTCCTCGCGCAGCTCCCGAACGAAGATTCCCTCTTTGCCGCCGCCCGCTACGTTGATGCCGCTGACCCCGGTCTGCGCCTCCGTCTCCACGATAATTTCCACCAACTCCGCCCGCCTCAGCTCCTGCAGAGGGCGGCGAGGTGTCGCGTTGGGGCTCTAGGGCCGGACCTCGCCCAGAGCCCGCCATTGCGCTCAACAGTGGCTCATATACATATATATGTTTATATATATTTAGAGACGGGGGTGGGGGACGGTCTCGCCACACTGCCCAGGCTGGTCTCGAACTCCTCCTGGGCCCAAGGGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAGCGGCTGTTCAGCGGGCCTTCAGGGCACACGCCCCTCGGCGCTGCCCTCGCAGGACGTCGGGGCACACCCACTCCGGCGTCTCCCCTTTAAGCAAGCCTGAGGGCAGCTGGCTTTCTAGGACCCGCGGAACGGTTAAACAGCTCCGCGGGCCGGCTGGCCTCTCCGAGGCCCTGGAGCGGCAGCCGAAAGGGGTTAGGGGAGGAGACGGGGTTGTAAGGGGAGGGACTGCGTCGGAGTGGGCTGGAGATAACTTGAGTTGTGATTGAGAGGCGGGACCAGGATCGTGGGGGCGTGGTCAGGTCGGGAGGGCGGGGCTGGGGGGGGTTGGTGCGGGTAGGAGGGGTAAGACAACACAGGCCTGAGAGGAAGAGCCAAATGGGGTATAGAAGGGTGCAAAAGATAGGAGAGGAATGTGGCCAGAGTTTATGGGAGGTTATTTGGAGCTGGGGCGGAGACCCTTATTATTTTTTTGTTGGGGGAGACAGGGTCTCTCACTCTGTCCCCAGGCTTGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACCTCCTTAAACTCAAGCAGACCTTCCGCTCCGGTCTCCCAAGTAGTTGGGAACATAGGCACGCGCCACCACGCCCAGCTAATTTTTAATTTTTTTTTTAAGAGACAGGGGTATCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCTCCTGTCTCAGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACTGCATCTGGCCCGGAGACCCATATTCTACAAACTGAATTTAACTATGGGGGAGGGGCTTTAATTACAGCAGAACAAGAGAATAGTTGAGGATGGGATTCTGAGGAAGGGGCTGGCTGGACCTTCAAGCCCTCTGGGATTGGGGGGACAGGGAGTGGGATTTGCCTCCCTGCAGGCTTGAATGTGTGTGAGAATGTGCTCTATTGTAAATTCAATGACCCGAAGACCTGTGAAACGCCCACAGGAGAGGGAATCCAGTGAAGGGGGTCTGCGTGGGTAATGAATGGGACTGGGAGACATGGCATTCCCGGTATTTACTGTAAATGATGCAGATTGGACCTGGCCCAGAAGCCACTATGGGATTCACAATAGGGCTTCCCAGAAGAGGCAGTGACAAACCTGGATCCTGTCTAGGAATCCAATCTGCTGTGTGTCTTAGGAAGAATCTTGCCCTCTCTGGACCCACTTCCCTGCTGCAAAATAGGGTAACATAGGCATACTGGAAGGAGGTTGCAGTAGGGATCTGAGAGGACACTGTCATGGCCAACGCACTGGGGCCAGCACGGACTGGAATTGAGCCCAGGACTTGGAGGGAGAGCAGGTCTAGGCCAGATGCCCCACAGCAGTGGCCCCAAGGGACTAGGGGGCTGAGCAGGGCAGTCTGGGTAAGGAGAGTTGTGGCTGGGACTGTAGGGAACAGCATGACCACCAGTACCGCCCTTTGGCTCAGCAGGCCCTGGGCTCAGCATTTTATGTGCAGAATCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCACCCAGGCTGGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTCAAGCGATTC
|
pathogenic
| 304,913 |
Is the chromosome 19, position 40504139 variant in SPTBN4 (spectrin beta, non-erythrocytic 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
TGGGATGAGGCTGACCCCCCTTCCTCTGCTGTGTCAGGTCTTGGACCAGGTATTGGAGGTGGGGAAGATCATAGAACGCTACGAGGAGCTGGCGGCTGAGCTGCTGGCCTGGATCCACCGCACCGTGGGCCTCATCAGCAATCAGAAATTTGCCAACTCCTTAAGTGGGGTGCAGCAGCAACTCCAGGCTTTCACGGCCTATTGCACGCTGGAGAAGCCTGTCAAGTGAGGCCCAGCTCTGGAGGGAGGGTGGGCAGGGGTGGCATGACGGCAGGGCTCCTGAGCTCATGCCCCTTCAGGTTCCAGGAGAAGGGGAACCTAGAGGTGCTGCTCTTCAGCATCCAGAGCAAACTGCGTGCCTGCAACCGTCGCCTCTTTGTGCCTCGGGAGGGCTGTGGCATCTGGGATATTGACAAGGTGAGGCCGGGGATGCAGGGGAGAGGCGGGGTTGCACTGTGGAGTTGTATAGGTTGCACACTGCTCAAGGGAATCATTCACATTGTAGACATGATGGATTAGATATTCATTCTGACAGTTTTTCAGTAGTAAAGTGTCATAAGGAAGCAATATTTTTTCCAATTTGCATGAAGTTGCCATAATGCTATGAGTGACCTCAGACTAAGTCAAGACCATTAAACTGTGGGGAGCTGTCAGAGTCTGAGTGCCTCCTCCCATCTCCTGCAGGCATGGGGTGAGCTGGAGAAGGCTGAGCATGAGCGGGAGGCTGCCCTACGGGCTGAGCTGATTCGGCAGGAGAAGCTGGAACTACTGGCACAGAGGTTTGACCACAAGGTGGCTATGAGGGAGAGCTGGCTGAATGAGAACCAGCGTCTGGTCTCCCAGGTACAAGGTGTAGGGCTTGGCTCCAGGGTAAAGGGACGGAGGGCGGGGCTGATGGTCCTGGGACCAGAGAGGGAGACTTGATCTTCTAGGCAACAGGGAAGAGTTAGATTAGTCTCCTGGTGATAAATGAGGATGGGGATGGGAGACTTGGCCTTCCAAGTGATTGTTGGGTGAGGGGAATGGGCCTGATCTCCAGGGTAATGGGAGAGTGAGGCTGGTCTCCAGGGTAACTAGAGAGGGCAGAATTCATCTTTTCAGGAATGGGGGAGTGTTTTAAGTGACAAGGGAGGTTGTATCTTGTGTCTAGGGTAACTCAGAAGGATAGAATTGGTTTCCTAAGTAACAGAGTCAGGTAAACCTGGTCCCTAATCTCCAGGACAGGGGAAGCATGGGCCTCCTTCCTGGGTAACAAGTTTAAGGTTAGAGATGTAACAGGAGGGTGGGACTTGTTTCCAGGGTAACTGGAGAGAGTGGGGCTGGTCTCTGGGGAAACGGGAAGGTGGGGTTGGTCTCTAGGGCAACAGGGGAGGGTGGGTCTGGTCTCCAGGGTAACTGGGGAAGATTGGGCTGGTCTCCAGGACAACAGGGGAGGGTGGAGCTGGTCTCCAGGATAACTGTGGAAGATGGGCTGGTCTCCAGGGCAACAGGGGATGGGGGGTTGGTCTTTAGGGTAACTGGGGAGGGTGGGGCTGGTCTCCAAGGTAACAATGGAGGGTGGGGCTGGTCTCCAGGTTACCTGGGTAACAGGGGAGGATGAGGCTGGTCTCCAGGATAACTAGGGAGGGCAGGGCCAGTCTCCAAGGTAATGGAGTGGGGAGTCCCCAGGGTCACACAGGGTCAAGGTAACAGGTGGACTGCTGAGGCAGCATGGGTGAGTGTCTGGCTCACTGCCCCAGGACAACTTTGGGTATGAGCTGCCCGCAGTGGAGGCAGCCATGAAGAAACACGAAGCGATCGAGGCAGACATTGCGGCCTACGAGGAGCGGGTGCAGGGTGTGGCGGAGCTGGCCCAGGCATTGGCAGCCGAAGGCTACTACGATATCCGGCGGGTGGCAGCCCAGCGTGACAGCGTCCTGCGCCAGTGGGCCCTGCTAACTGGGCTTGTGGGTGCCCGGCGGACACGACTTGAGCAGAACCTTGCCCTGCAGAAGGTCTTCCAGGAGATGGTGTACATGGTGGACTGGATGGAGGAGATGCAGGTGCCGGCGGGGGGGCGGGGATGCGGGTGGAGTGCCAGGAGGGAGGGGAGGATGCAGACGCTGAAAGAGTTGTCAGACAGCTGGAGATGGAGAGGGAAGGGCAGAGATAGAAGAAGATAGAGAGAAAGCCAGGGAGACAAAAAGAGAGAACAAGAGAGAGAGGGAGAGAAAGATACAGAGATGGACAAGAGAGGCAGACAAAGAAACACAGAATGAGAAAGAGACAGAGACAAATAGAGAGAAATAGAAACATGCTGGACACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTCAGCAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGGGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAACAAAAAAAACAAAAAACAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCTAGCTATTTGGGAGGCTGAGGCTCAAGAATTGCTTGAATCCAGGAGGCAGAGGCTGCAGTAAGCCAAGGTGGTGCCACTGCACTCCATCCAGCCTGAGTGACAGAGTTTGATTCTGTTTCAAAAAAAAAGAGAGAAATGAAAAAAGACATAGAGATATAGAAACAGAGTAAACCAGGGATGCAGACAGAGAGATAGTGACAGTTTGAGAGAGAGGAAATCAGAGAGACAGAGAGAGGAGAAGGCAGACACAAAGGTGACATGGAAATCTACATGACTACAGAGAAAGATACAGGAAGATGGAATCAATTTAAGAGAGAGAGAGAGAGACCTACCAGATCTAGAGAGAGATGAGACAAGAAAGATAGAAGCCAGCTGGGCATGGTGGCTCTCACCTGCGGTACCAGCACTTTGGGAGGCCGAGGTAGGCAGATTGCTTGAGCCCCAGAGTTTGAGACCAGCCTGATCAACATAGTGAGATCCTGTCTGTACAAAAAAAAAAAAAAAAAAAATTAGCTAGGCGTGGTGGTGTGCGCTTGTAGTCCCAGCTACTCTGAAGTGGGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGTGTGAGCCATGATTGCACCACTACACTTCAACCTGGATGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAGAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCGAAGTACATCTAATCGGGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCTGTCTCAAAAAAAGAAGAAGAAAAAAGAATGAAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGGTGAACAGGAGACACAGACAGGAAGGTGAACAGGAGATGGAGAGAAAGAGAAAAGGGTAGAAATGTAGAAAGAGAGGCAGAGAAAGATGGAGACAAAGATGTATAGATAAGAAAGACATGGAGGCAGAGAGTGAGCCACTGTGACAGAGACAGAGCCCAGAAATGTGGAGTCCACGAGAGATGGAAACATTCAGAGAGAGACTGGTAGAGAGAGAGGGAGACAGAGACAGAACACCATGGCTAGCTGTGAGAGCTGACAGCAGCTGGGGCTCAGCTTTTTTCTTTCTGATGAGGAAACCGAGGTCCAGGCCACAGAGCTGGTAAGAGAGTCTTGAGGCTGGTCCATATCTCTCCAAGAGGGTCAGAGTCGGGAGTGATGGTGCAGAGTAGCAGGGGCTGGCATAGGCAATGGGGGAGAGGTGAG
|
TGGGATGAGGCTGACCCCCCTTCCTCTGCTGTGTCAGGTCTTGGACCAGGTATTGGAGGTGGGGAAGATCATAGAACGCTACGAGGAGCTGGCGGCTGAGCTGCTGGCCTGGATCCACCGCACCGTGGGCCTCATCAGCAATCAGAAATTTGCCAACTCCTTAAGTGGGGTGCAGCAGCAACTCCAGGCTTTCACGGCCTATTGCACGCTGGAGAAGCCTGTCAAGTGAGGCCCAGCTCTGGAGGGAGGGTGGGCAGGGGTGGCATGACGGCAGGGCTCCTGAGCTCATGCCCCTTCAGGTTCCAGGAGAAGGGGAACCTAGAGGTGCTGCTCTTCAGCATCCAGAGCAAACTGCGTGCCTGCAACCGTCGCCTCTTTGTGCCTCGGGAGGGCTGTGGCATCTGGGATATTGACAAGGTGAGGCCGGGGATGCAGGGGAGAGGCGGGGTTGCACTGTGGAGTTGTATAGGTTGCACACTGCTCAAGGGAATCATTCACATTGTAGACATGATGGATTAGATATTCATTCTGACAGTTTTTCAGTAGTAAAGTGTCATAAGGAAGCAATATTTTTTCCAATTTGCATGAAGTTGCCATAATGCTATGAGTGACCTCAGACTAAGTCAAGACCATTAAACTGTGGGGAGCTGTCAGAGTCTGAGTGCCTCCTCCCATCTCCTGCAGGCATGGGGTGAGCTGGAGAAGGCTGAGCATGAGCGGGAGGCTGCCCTACGGGCTGAGCTGATTCGGCAGGAGAAGCTGGAACTACTGGCACAGAGGTTTGACCACAAGGTGGCTATGAGGGAGAGCTGGCTGAATGAGAACCAGCGTCTGGTCTCCCAGGTACAAGGTGTAGGGCTTGGCTCCAGGGTAAAGGGACGGAGGGCGGGGCTGATGGTCCTGGGACCAGAGAGGGAGACTTGATCTTCTAGGCAACAGGGAAGAGTTAGATTAGTCTCCTGGTGATAAATGAGGATGGGGATGGGAGACTTGGCCTTCCAAGTGATTGTTGGGTGAGGGGAATGGGCCTGATCTCCAGGGTAATGGGAGAGTGAGGCTGGTCTCCAGGGTAACTAGAGAGGGCAGAATTCATCTTTTCAGGAATGGGGGAGTGTTTTAAGTGACAAGGGAGGTTGTATCTTGTGTCTAGGGTAACTCAGAAGGATAGAATTGGTTTCCTAAGTAACAGAGTCAGGTAAACCTGGTCCCTAATCTCCAGGACAGGGGAAGCATGGGCCTCCTTCCTGGGTAACAAGTTTAAGGTTAGAGATGTAACAGGAGGGTGGGACTTGTTTCCAGGGTAACTGGAGAGAGTGGGGCTGGTCTCTGGGGAAACGGGAAGGTGGGGTTGGTCTCTAGGGCAACAGGGGAGGGTGGGTCTGGTCTCCAGGGTAACTGGGGAAGATTGGGCTGGTCTCCAGGACAACAGGGGAGGGTGGAGCTGGTCTCCAGGATAACTGTGGAAGATGGGCTGGTCTCCAGGGCAACAGGGGATGGGGGGTTGGTCTTTAGGGTAACTGGGGAGGGTGGGGCTGGTCTCCAAGGTAACAATGGAGGGTGGGGCTGGTCTCCAGGTTACCTGGGTAACAGGGGAGGATGAGGCTGGTCTCCAGGATAACTAGGGAGGGCAGGGCCAGTCTCCAAGGTAATGGAGTGGGGAGTCCCCAGGGTCACACAGGGTCAAGGTAACAGGTGGACTGCTGAGGCAGCATGGGTGAGTGTCTGGCTCACTGCCCCAGGACAACTTTGGGTATGAGCTGCCCGCAGTGGAGGCAGCCATGAAGAAACACGAAGCGATCGAGGCAGACATTGCGGCCTACGAGGAGCGGGTGCAGGGTGTGGCGGAGCTGGCCCAGGCATTGGCAGCCGAAGGCTACTACGATATCCGGCGGGTGGCAGCCCAGCGTGACAGCGTCCTGCGCCAGTGGGCCCTGCTAACTGGGCTTGTGGGTGCCCGGCGGACACGACTTGAGCAGAACCTTGCCCTGCAGAAGGTCTTCCAGGAGATGGTGTACATGGTGGACTGGATGGAGGAGATGCAGGTGCCGGGGGGGGGCGGGGATGCGGGTGGAGTGCCAGGAGGGAGGGGAGGATGCAGACGCTGAAAGAGTTGTCAGACAGCTGGAGATGGAGAGGGAAGGGCAGAGATAGAAGAAGATAGAGAGAAAGCCAGGGAGACAAAAAGAGAGAACAAGAGAGAGAGGGAGAGAAAGATACAGAGATGGACAAGAGAGGCAGACAAAGAAACACAGAATGAGAAAGAGACAGAGACAAATAGAGAGAAATAGAAACATGCTGGACACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTCAGCAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGGGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAACAAAAAAAACAAAAAACAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCTAGCTATTTGGGAGGCTGAGGCTCAAGAATTGCTTGAATCCAGGAGGCAGAGGCTGCAGTAAGCCAAGGTGGTGCCACTGCACTCCATCCAGCCTGAGTGACAGAGTTTGATTCTGTTTCAAAAAAAAAGAGAGAAATGAAAAAAGACATAGAGATATAGAAACAGAGTAAACCAGGGATGCAGACAGAGAGATAGTGACAGTTTGAGAGAGAGGAAATCAGAGAGACAGAGAGAGGAGAAGGCAGACACAAAGGTGACATGGAAATCTACATGACTACAGAGAAAGATACAGGAAGATGGAATCAATTTAAGAGAGAGAGAGAGAGACCTACCAGATCTAGAGAGAGATGAGACAAGAAAGATAGAAGCCAGCTGGGCATGGTGGCTCTCACCTGCGGTACCAGCACTTTGGGAGGCCGAGGTAGGCAGATTGCTTGAGCCCCAGAGTTTGAGACCAGCCTGATCAACATAGTGAGATCCTGTCTGTACAAAAAAAAAAAAAAAAAAAATTAGCTAGGCGTGGTGGTGTGCGCTTGTAGTCCCAGCTACTCTGAAGTGGGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGTGTGAGCCATGATTGCACCACTACACTTCAACCTGGATGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAGAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCGAAGTACATCTAATCGGGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCTGTCTCAAAAAAAGAAGAAGAAAAAAGAATGAAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGGTGAACAGGAGACACAGACAGGAAGGTGAACAGGAGATGGAGAGAAAGAGAAAAGGGTAGAAATGTAGAAAGAGAGGCAGAGAAAGATGGAGACAAAGATGTATAGATAAGAAAGACATGGAGGCAGAGAGTGAGCCACTGTGACAGAGACAGAGCCCAGAAATGTGGAGTCCACGAGAGATGGAAACATTCAGAGAGAGACTGGTAGAGAGAGAGGGAGACAGAGACAGAACACCATGGCTAGCTGTGAGAGCTGACAGCAGCTGGGGCTCAGCTTTTTTCTTTCTGATGAGGAAACCGAGGTCCAGGCCACAGAGCTGGTAAGAGAGTCTTGAGGCTGGTCCATATCTCTCCAAGAGGGTCAGAGTCGGGAGTGATGGTGCAGAGTAGCAGGGGCTGGCATAGGCAATGGGGGAGAGGTGAGN
|
benign
| 304,939 |
Located at chromosome 19 position 40512814, the variant affecting gene SPTBN4 (spectrin beta, non-erythrocytic 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
AATCCCAGTACTTTGGGAGGCCAAGGTGGGTGAATTTCTTCAGCCCAGATATTGGAGACCAGCCAGCGAGACTCTATTTCTACAAGAAACTTAGAAAAAAAATTAGCCAGGCATGGTGTTGTGGGCCCATAGTCCCAGCTACTCAGGAAGCTGAGGCGGGAGGATTACTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGATAGAGTGATACCCTATCTCTAAAATAAATAAATAAATAAATAAACACACTTACCTCATGACTCACAGTTCACATGCATACATGGGCACACAGGCTAACACAGAGGTTTTATAAAACAATACTTCCAGGCTGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCATTTTAGGAGGCTGAGGGGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATAGCGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCTGGACATGGTGGCACGCGCCTGTAATCCCAACTACTCTGGAGGCTGAGGCAGGAGAATCACATCAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATCAAGCCATTGCACTCCAGCCCAGGCGACAGTGAGAGACTCTGTCTCAATCAAACAAACAAACAATACCAAACAACAACAGCAACAACAACAAAAATACTCCCCCGACCTTGTTTTGCATTGTGATATTTTCCGTTCCTTCTATTCTATTCCACCAAACAAATGCTGGCTGTGACCCATTAAATTAACTTCACTGTTTTCTAGTCGCCAACTAGCCATCCAGGAGGAAGGTGAACTATTTAAGGAAAAAGAGGGAGTTCGGGGTTAAGCACAGTGGCTCATGCCTATAATCCCAACACTTCGGGAGGCCAAGTGGAAGGATTGCTTGAGGCCAGCCGTTCAAGACCAGCCTGGCCAACATAGTGAGATCCTGTCTCTATTTTAAAAAGAAAAAGGAGTGCAGATAACCACTGGGATTGATAGATAATGCAACAGAGGATGACAGAGGGAACCTAGAAACATGGTTTAAGAAAAGAGAAGTTGGCCGGTGGCAGTGGCTCATGCCTGTAATCCCAGCAGTTTAGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCTAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGAGGTGGAGGTTGCAGTGAACCGAGATCGCGCTACTGCACTCCAGCCTGGGCAACAGAGTAAGAATCTGTCTCAAACACACAAACAAACAAAAAACAAAGAAGTTTCATTTGACTCAGTTCTGACATAAGCACAATTTTCACTCAAATATACAGAATCTGAGATGCTCTGAATCCATCCATCATTCAGTCAACAAATCACTACATTCACTAGGCTACAGCTCTGGGCTCCACCCTTTGCTGGGCAGTGTTTGGGATAGGGTGTGACAGACCCAGGTCCTGCCCTTAAGGAGCTCTCAGTCCAGTGGGGGAGACAGGACAAGGCAATGACAACACAGAGTAGTCAGGGCTAGGATGGGGAAGCAGAGAAGCCTGAGAGGGTCGAGGAGGAGCCTGCTCCAGCCTTGGGGTGTCAGGGAAGGCTGCCTGGAGGAGGAGCCACGTGACCCGGCATCTGATGAAGTCACACCAAGGACAGGGTAGGTAGCCCGCACCATCCTCTCTTGGGCGCCCCTTGGCTTGTGACCAATCCTGGATGCTCCCCTTCTCCTGGCTCAGGCTACCAGCCCTGCGACCCGCAGGTCATCTGCAACCGCGTGAACCACGTGCACGGCTGCCTGGCGGAGCTGCAGGAGCAGGCAGCGCGGCGACGCGCGGAGCTGGAGGCTTCGCGGAGCCTGTGGGCGCTGCTGCAGGAGCTGGAGGAGGCCGAGAGCTGGGCGCGCGACAAGGAGCGTCTCCTGGAGGCTGCGGGCGGCGGCGGTGCGGCGGGCGCAGCGGGCGCAGCGGGAACAGCGGGCGGCGCGCATGACCTGTCCAGCACAGCGCGCCTCCTGGCCCAGCACAAGATCCTGCAGGGCGAGCTGGGCGGGCGGCGAGCGTTGCTGCAGCAGGCCCTGCGGTGTGGCGAGGAGCTGGTTGCGGCCGGCGGTGCCGTCGGCCCGGGAGCAGACACCGTGCACCTGGTAGGCCTGGCGGAGCGCGCGGCGAGCGCCCGGCGCCGCTGGCAGAGGCTGGAAGAGGCGGCGGCGCGGCGAGAGCGGCGGCTGCAGGAGGCGCGGGCGCTGCACCAGTTCGGCGCTGACCTCGACGGGCTGCTGGACTGGCTTCGCGACGCTTACCGCCTGGCAGCCGCCGGTGACTTCGGCCACGACGAAGCTTCCAGCCGCCGCCTGGCGCGCCAGCACCGCGCGCTCACCGGGGAGGTGGAGGCACATCGCGGGCCCGTGAGCGGCCTGCGGCGCCAGCTGGCGACACTCGGGGGTGCCAGTGGCGCAGGGCCACTGGTGGTGGCGCTGCAGGTGCGCGTGGTGGAAGCAGAGCAGTTGTTCGCTGAGGTGACCGAAGTGGCGGCGCTGAGGCGCCAGTGGCTGCGGGACGCGCTCGCTGTCTACCGCATGTTTGGCGAGGTGCACGCGTGTGAGCTGTGGATCGGCGAGAAGGAGCAATGGCTGCTCTCCATGCGTGTGCCGGATTCACTCGACGACGTCGAGGTGGTGCAGCACCGGTGAGCGCGCACATGTGGGACTCCGGGGTCCCCTTCCTCATGCACCCAGTCTCACCTTCATTGGCTCAACAGTTCCCATGTTTGCTCAGCTGGAACTAGGAGTTCCAATCCCTGCTTCACCCATAGCCAGCTTTGTGACAGTTCTGCAACCTGCCTAATCTTCCTGAACCTCAGCTTGCCCACCTGTATAATGGGGGTGATATTAGTCCCTACCCAGGCTTGTGATGAACGGTAAATGAGTTCATACATGCAGAATACGAAGCAAATGCCTGGGGGTAGAGGAAGCATTCCCCCAGCATTTGCTCTTGTTACCCAGGCTTACATTCGCCAAGCATGAAATCAACGACCTATGCTTCTACAGGGACACCTCAGCCTGGCCCCTCTGCTGGGAGGCCTCCCATTGCTTCTGCATAAATGTCACCTCCCTAGCTACTAAAATAGCTCTGACTCTTGTGATTTTCCATTGTTTCATCCTGTTTTACATTTCTTTGTAGCACTTACCATCCCATGACATATTGTATACTGACTTGTCTGTTGGCTGACTTAGCAATGAGTTGTTCAATTAGTGGGTGAACAATGCCTATTCCCCCTCTGCACCACTCTGTCTGAGCATCTTATTCATCCATACATTCATTCAGCAGGTGTTTACTGAGTGCCTATGCCTTTCTAGGTCTTGTGCTGGGCACTGCTGGAAACACAGGGCTGCTCCTTGCCCCTACTGTGCCTGCAGTTGCCCAGTTCTTTGAAACATTGATTTAAAGATGGGAGGACCATGTCTAGCTTAAAGTAGACCTCAGTGGCTGCCATGTGGAGGGCAGGTTGGAGCGGGTAAGAGTTGTGGCTGGGAACCCAGAGAGGCAACTGGGCTGGGGACCCAGATGGAGCGGAACAAGATTAGACCAGGGCGGGAGGTAAGTAAACAGGCCATGGAGACTGATGGGCTGGAGCGATTTTCCAAAACAAAGCCCAGGGCTCTGGCCTGGCAGATGACAGTGCTGTCCCCAACATGGGGGCCCAGAGGAAGAACAAATTTGAGTCAGGTGGGTGTGAATAGCCCCAAGAAGGTATACAGTAGGCTTTGAGGTCGAAGACAGGTTCAAAAGGTAAGAGGTTGAGGCTGGAGACTGAGGTGTGACTGTCATGAGTTCAGGGGCAAAGACCAAGGCTGTGGGGCTGGGTGGAATCATTGAAGAAGGGTGTGAAGGAAAACCCAGAGGGCTCAGGGTGGAGTTGCTGCTGAGGAATCTCACATTTAAACATCAGGTAGAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTT
|
AATCCCAGTACTTTGGGAGGCCAAGGTGGGTGAATTTCTTCAGCCCAGATATTGGAGACCAGCCAGCGAGACTCTATTTCTACAAGAAACTTAGAAAAAAAATTAGCCAGGCATGGTGTTGTGGGCCCATAGTCCCAGCTACTCAGGAAGCTGAGGCGGGAGGATTACTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGATAGAGTGATACCCTATCTCTAAAATAAATAAATAAATAAATAAACACACTTACCTCATGACTCACAGTTCACATGCATACATGGGCACACAGGCTAACACAGAGGTTTTATAAAACAATACTTCCAGGCTGGGCGCGGTGGCTCAGGCCTGTAATCCCAGCATTTTAGGAGGCTGAGGGGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATAGCGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCTGGACATGGTGGCACGCGCCTGTAATCCCAACTACTCTGGAGGCTGAGGCAGGAGAATCACATCAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGATCAAGCCATTGCACTCCAGCCCAGGCGACAGTGAGAGACTCTGTCTCAATCAAACAAACAAACAATACCAAACAACAACAGCAACAACAACAAAAATACTCCCCCGACCTTGTTTTGCATTGTGATATTTTCCGTTCCTTCTATTCTATTCCACCAAACAAATGCTGGCTGTGACCCATTAAATTAACTTCACTGTTTTCTAGTCGCCAACTAGCCATCCAGGAGGAAGGTGAACTATTTAAGGAAAAAGAGGGAGTTCGGGGTTAAGCACAGTGGCTCATGCCTATAATCCCAACACTTCGGGAGGCCAAGTGGAAGGATTGCTTGAGGCCAGCCGTTCAAGACCAGCCTGGCCAACATAGTGAGATCCTGTCTCTATTTTAAAAAGAAAAAGGAGTGCAGATAACCACTGGGATTGATAGATAATGCAACAGAGGATGACAGAGGGAACCTAGAAACATGGTTTAAGAAAAGAGAAGTTGGCCGGTGGCAGTGGCTCATGCCTGTAATCCCAGCAGTTTAGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCTAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTAAACCTGGAGGTGGAGGTTGCAGTGAACCGAGATCGCGCTACTGCACTCCAGCCTGGGCAACAGAGTAAGAATCTGTCTCAAACACACAAACAAACAAAAAACAAAGAAGTTTCATTTGACTCAGTTCTGACATAAGCACAATTTTCACTCAAATATACAGAATCTGAGATGCTCTGAATCCATCCATCATTCAGTCAACAAATCACTACATTCACTAGGCTACAGCTCTGGGCTCCACCCTTTGCTGGGCAGTGTTTGGGATAGGGTGTGACAGACCCAGGTCCTGCCCTTAAGGAGCTCTCAGTCCAGTGGGGGAGACAGGACAAGGCAATGACAACACAGAGTAGTCAGGGCTAGGATGGGGAAGCAGAGAAGCCTGAGAGGGTCGAGGAGGAGCCTGCTCCAGCCTTGGGGTGTCAGGGAAGGCTGCCTGGAGGAGGAGCCACGTGACCCGGCATCTGATGAAGTCACACCAAGGACAGGGTAGGTAGCCCGCACCATCCTCTCTTGGGCGCCCCTTGGCTTGTGACCAATCCTGGATGCTCCCCTTCTCCTGGCTCAGGCTACCAGCCCTGCGACCCGCAGGTCATCTGCAACCGCGTGAACCACGTGCACGGCTGCCTGGCGGAGCTGCAGGAGCAGGCAGCGCGGCGACGCGCGGAGCTGGAGGCTTCGCGGAGCCTGTGGGCGCTGCTGCAGGAGCTGGAGGAGGCCGAGAGCTGGGCGCGCGACAAGGAGCGTCTCCTGGAGGCTGCGGGCGGCGGCGGTGCGGCGGGCGCAGCGGGCGCAGCGGGCGCAGCGGGAACAGCGGGCGGCGCGCATGACCTGTCCAGCACAGCGCGCCTCCTGGCCCAGCACAAGATCCTGCAGGGCGAGCTGGGCGGGCGGCGAGCGTTGCTGCAGCAGGCCCTGCGGTGTGGCGAGGAGCTGGTTGCGGCCGGCGGTGCCGTCGGCCCGGGAGCAGACACCGTGCACCTGGTAGGCCTGGCGGAGCGCGCGGCGAGCGCCCGGCGCCGCTGGCAGAGGCTGGAAGAGGCGGCGGCGCGGCGAGAGCGGCGGCTGCAGGAGGCGCGGGCGCTGCACCAGTTCGGCGCTGACCTCGACGGGCTGCTGGACTGGCTTCGCGACGCTTACCGCCTGGCAGCCGCCGGTGACTTCGGCCACGACGAAGCTTCCAGCCGCCGCCTGGCGCGCCAGCACCGCGCGCTCACCGGGGAGGTGGAGGCACATCGCGGGCCCGTGAGCGGCCTGCGGCGCCAGCTGGCGACACTCGGGGGTGCCAGTGGCGCAGGGCCACTGGTGGTGGCGCTGCAGGTGCGCGTGGTGGAAGCAGAGCAGTTGTTCGCTGAGGTGACCGAAGTGGCGGCGCTGAGGCGCCAGTGGCTGCGGGACGCGCTCGCTGTCTACCGCATGTTTGGCGAGGTGCACGCGTGTGAGCTGTGGATCGGCGAGAAGGAGCAATGGCTGCTCTCCATGCGTGTGCCGGATTCACTCGACGACGTCGAGGTGGTGCAGCACCGGTGAGCGCGCACATGTGGGACTCCGGGGTCCCCTTCCTCATGCACCCAGTCTCACCTTCATTGGCTCAACAGTTCCCATGTTTGCTCAGCTGGAACTAGGAGTTCCAATCCCTGCTTCACCCATAGCCAGCTTTGTGACAGTTCTGCAACCTGCCTAATCTTCCTGAACCTCAGCTTGCCCACCTGTATAATGGGGGTGATATTAGTCCCTACCCAGGCTTGTGATGAACGGTAAATGAGTTCATACATGCAGAATACGAAGCAAATGCCTGGGGGTAGAGGAAGCATTCCCCCAGCATTTGCTCTTGTTACCCAGGCTTACATTCGCCAAGCATGAAATCAACGACCTATGCTTCTACAGGGACACCTCAGCCTGGCCCCTCTGCTGGGAGGCCTCCCATTGCTTCTGCATAAATGTCACCTCCCTAGCTACTAAAATAGCTCTGACTCTTGTGATTTTCCATTGTTTCATCCTGTTTTACATTTCTTTGTAGCACTTACCATCCCATGACATATTGTATACTGACTTGTCTGTTGGCTGACTTAGCAATGAGTTGTTCAATTAGTGGGTGAACAATGCCTATTCCCCCTCTGCACCACTCTGTCTGAGCATCTTATTCATCCATACATTCATTCAGCAGGTGTTTACTGAGTGCCTATGCCTTTCTAGGTCTTGTGCTGGGCACTGCTGGAAACACAGGGCTGCTCCTTGCCCCTACTGTGCCTGCAGTTGCCCAGTTCTTTGAAACATTGATTTAAAGATGGGAGGACCATGTCTAGCTTAAAGTAGACCTCAGTGGCTGCCATGTGGAGGGCAGGTTGGAGCGGGTAAGAGTTGTGGCTGGGAACCCAGAGAGGCAACTGGGCTGGGGACCCAGATGGAGCGGAACAAGATTAGACCAGGGCGGGAGGTAAGTAAACAGGCCATGGAGACTGATGGGCTGGAGCGATTTTCCAAAACAAAGCCCAGGGCTCTGGCCTGGCAGATGACAGTGCTGTCCCCAACATGGGGGCCCAGAGGAAGAACAAATTTGAGTCAGGTGGGTGTGAATAGCCCCAAGAAGGTATACAGTAGGCTTTGAGGTCGAAGACAGGTTCAAAAGGTAAGAGGTTGAGGCTGGAGACTGAGGTGTGACTGTCATGAGTTCAGGGGCAAAGACCAAGGCTGTGGGGCTGGGTGGAATCATTGAAGAAGGGTGTGAAGGAAAACCCAGAGGGCTCAGGGTGGAGTTGCTGCTGAGGAATCTCACATTTAAACATCAGGTAGAGGCTGGGCGTGGTGGCTCACGCCTGTAATC
|
benign
| 304,943 |
Determine whether the variant at chromosome 19, position 40609521, in gene LTBP4 (latent transforming growth factor beta binding protein 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
GCCGCGTAGGCAAGGCCTGGGGCCGGGGCTGCCAGCTCTGCCCACCCTTCGGCTCAGGTGAGCCCCTGCGGCAGTGCCTAGCCCTACGCGCAACACATGTGGCGCTCATTCTACGCCCCACCCTCCAACCCTGAGTTCACTGCCCCAACCTGACTGGCTGGGCTCCAGCCTTGGCCACGCAGCAGCCTCTGAGACCCGCAGGCCTCAGACTGGACAGCATCCATGGCTCCACCTCCATCTGTAGCCACAGCCACCCCTCCATTCGTAGCCACAGCTACCCCGGAGCTCCCAAGTTAGTTTTTGTCTCCTGAGCGTCAACGCCCAGTCCCACCCTGTCCCTGAACTTTGACCAAGTCCTTGGCTTCTGAGACACTGCCTTCAGCTTAGCCCCACCCCAGGCATGCCCCTCCCTGAGACACCTCCCTGGCATTCTATCTTCTGCTTAAAACTAAATCTCACAAGGGAGCTATTTCCTAGCCTCCAACTCTGTCCCTGTAGACCCAACCGGACCCTGCCCTCAACCCTGTTCCTACCACCATCCCAAATGTGGGAAAACGCTCTTGGCCCCACCTGTAGCCTCTAAGACATTCTACTCTTTGGCCAGGACACCACCCCATCCCAGCCTCCAGCTCAAACCCCTGACACTCTCCAGCCAAGCCCTGCCCCTAGCCAAGGCCAGAGTCTGGGCTGGCCATCGTTTTCTTCCCGCTCTCTTGTCCTCTCTCTGTCTCTCTTACCTATTCCCAGAGGGTTTCCGGGAGATCTGCCCGGCTGGTCCTGGTTACCACTACTCGGCCTCCGACCTCCGCTACAACACCAGACCCCTGGGCCAGGAGCCACCCCGAGTGTCACTCAGCCAGCCTCGTACCCTGCCAGCCACCTCTCGGCCATCTGCAGGTGAGCTGGCTCTGGCAGAAGTGGGTGCCATCTTCAAGGGGCTGCCCCAGCCCCATAGTGAAAGGAGGCAAGAGAGGATTTGGGCTCCACTCGTTGATACCCCTTCTTTATCAGGCTTTCTGCCCACCCATCGCCTGGAGCCCCGGCCTGAACCCCGGCCCGATCCCCGGCCCGGCCCTGAGCTTCCCTTGCCCAGCATCCCTGCCTGGACTGGTCCTGAGATTCCTGAATCAGGTTTGCTAGAAAGAACTGAGGGCATTGGGCCTGCAGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAGGGTGGATCACCAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAACTACAAAAATTAACTGGGCGTGGTGGCAGATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCTTGAGCGACACTCCATCTCAAAAAAAAAAAAAAAAAAAGAATTCAGGGCATTGATGGGGGTATTACAGGTGGGATTCTGGGGTAAAAGACTCCAAGGTGAAGATTCCAGGTTACAGCAAATAGGAATGGTATGGGCAGAGATAAGCGTTTGAAGGGTTGGGTGGTAGTTAGATCAGGAGCTGGAGTCACAGTTGGGCTCTTCTGTGTCAATCGAGCAAGCCATTTAACCTCTGAGACTCAGTTTTCTCATTGGTAAAATGGGGATGGTTGTTGAGATGCCTCTGAAGTGTCTGACACCTAGTAAGTGCTCAGATAAATACTTATGGTAGATAATTATTTTTCATTATCTAATATTAGATAATTATTTCTCAGGTAGGGCACTAAGAATGTATCTCAGGCGGAGGGTTGGAGAGCAAACTATTCAAAGCCAGAGACCTTGGGGTGGCATGATGAGGGGATTCGGCCAAGGATCTGATGAGAACGTTCCAGGATAAAAAAGATGGAGATCAGAAGAAGACTGGGCTTGCTTGGGGAGGAGACATCCATGAAGGTGTTTTATGGATGTCTCCGGGGGTGGGGGTTTTACTGGGATGAAAGGAACGGAGGATTCAGAGATGGGGGAACCCTGGCTGACTGGACCCCCCAGGTCCCTCCTCCGGCATGTGTCAGCGCAACCCCCAGGTCTGCGGCCCAGGACGCTGCATTTCCCGGCCCAGCGGCTACACCTGCGCTTGCGACTCTGGCTTCCGGCTCAGCCCCCAGGGCACCCGATGCATTGGTGAGCAAGACGGAGGGCGCGGAAGGAGGCGGGGCGGGGGGCTTTGCCTGGTCACCTTGTCACCAGCCCCCTCCGTGTCCTCAGATGTGGACGAATGTCGCCGCGTGCCCCCGCCCTGTGCTCCCGGGCGCTGCGAGAACTCACCAGGCAGCTTCCGCTGCGTGTGCGGCCCGGGCTTCCGAGCCGGCCCACGGGCTGCGGAATGCCTGGGTGAGAAATTTGCCCCACCCGGCTCCAGGCCCACCCCAGGGTCTCGCTCCTGCTCTCACTCCAGAGCCTCTCCAGCCCTCCCACGCTTCCCCTCTCGGGTCCCGCCCCAGGACTGCTCTGCCCTGGCCCTTGGCCCTGCCCTTCCCTGACCCGCCTCCACCCAGCTCCAGCCTCCCTTTGACCCCACCCCTACCCAGCTCCCAAACTGCCAGTTTCTATCGGGGCCTGGTCGCAACTCGTATTGCTCCGCCCCCACGCCCAGGCCCCGCCCTTATTGGCCACGCCCCTCCCTGACTAACTCCCTCCCCCAGGCCCCGCCACTGTCCTGCAACTGCGGCAACCAATCTCCTGACCGCGACCCCGATTCCAACCCTGCCACACCAGAGCCCTATCCCCAAACTGCTCCTTTCTTCTCTAGCCCCTACCCCACCTTCCCTTAGCTTGGTCCCCAAAGCTCTCCTTTCTGCCCTTGCGCTACCAAACCCTGCCCTCCACAATTGCCTCTCTCACTGTGCCCCTCTCCGGCTGTCCTGGCCGGGTCCCCATCCTGGCTCTGGCCCAAGCTTGGTCCCGCTCCCGCTTCCCTCTACCCCTGCCTCCTTGCGTCGCTTCTCCCGGGGCTGTCTGCCCCAGTCCCAGCCGCCTGGTCTGTGCCTACAGATGTGGACGAGTGCCACCGCGTGCCGCCGCCGTGTGACCTCGGGCGCTGCGAGAACACGCCAGGCAGCTTCCTGTGCGTGTGCCCCGCCGGGTACCAGGCTGCACCGCACGGAGCCAGCTGCCAGGGTGAGGGCCTGGGAGGGGCAGCTGGGAAGGGGTGTGAGCGGTTGGGTAGAGCGCAGTGATGAGGGCCAGAGAGACTGAACAATAGGGCAAAGCGAGTTGATTTGGAGACAGAGGCCAGGCTCTCGAGCAGACGTGTGGCCTGATGGCAGTAGAGAGAGACCTGGGATGCAGAGGCCAAGTGATGGGAAACAGAAAGGCTGAGTCATGAAAGATGGAGAAGCAGAATGAGGAGGGATGGAGATGTCAGTAATCGGGTAAGGGGAGCAGAGTTATGGAGGAAAGGGGAGAAGGAGGCCTTCTCATGGGGACTACAGAGACAGAACCAGCCAGGCAGCTTAGTAGGGATTGGTGGAGGATGCAGAGTCAGATGATGGTGACAAGGAGGAATAGAGATGGGGTCACGGGGACAGAATGTTGGAGGGTGGAAAGCCAAAGTGACAGAGGTCAGGGAGGCAGAGGGGAACAAGTGACCCCGGGCCCCCTGCCCTGTGCAGATGTGGATGAATGCACCCAGAGCCCAGGCCTGTGTGGCCGAGGGGCCTGCAAGAACCTGCCTGGCTCTTTCCGCTGTGTTTGCCCGGCTGGCTTCCGGGGCTCGGCGTGTGAAGAGGATGTGGATGAGTGTGCCCAGGAGCCGCCGCCCTGTGGGCCCGGCCGCTGTGACAACACGGCAGGCTCCTTTCACTGTGCCTGCCCTGCTGGCTTCCGCTCCCGAGGGCCCGGGGCCCCCTGCCAAGGTGAGGGTGCTGAGCCCAGCCCTACTCCATCACTGTTTGCTGTGGAGACTGGAGAGAGATTATTGAGGGGCAGAGAGGCAGAGTGATGGGGCTCAGGGATGGAGAACAGGGGCTGAGGGATGGGGACCTCACTCCAGAGTCTTCTCTCCTTTCAACAAAATAAGGCAGTCCTCC
|
GCCGCGTAGGCAAGGCCTGGGGCCGGGGCTGCCAGCTCTGCCCACCCTTCGGCTCAGGTGAGCCCCTGCGGCAGTGCCTAGCCCTACGCGCAACACATGTGGCGCTCATTCTACGCCCCACCCTCCAACCCTGAGTTCACTGCCCCAACCTGACTGGCTGGGCTCCAGCCTTGGCCACGCAGCAGCCTCTGAGACCCGCAGGCCTCAGACTGGACAGCATCCATGGCTCCACCTCCATCTGTAGCCACAGCCACCCCTCCATTCGTAGCCACAGCTACCCCGGAGCTCCCAAGTTAGTTTTTGTCTCCTGAGCGTCAACGCCCAGTCCCACCCTGTCCCTGAACTTTGACCAAGTCCTTGGCTTCTGAGACACTGCCTTCAGCTTAGCCCCACCCCAGGCATGCCCCTCCCTGAGACACCTCCCTGGCATTCTATCTTCTGCTTAAAACTAAATCTCACAAGGGAGCTATTTCCTAGCCTCCAACTCTGTCCCTGTAGACCCAACCGGACCCTGCCCTCAACCCTGTTCCTACCACCATCCCAAATGTGGGAAAACGCTCTTGGCCCCACCTGTAGCCTCTAAGACATTCTACTCTTTGGCCAGGACACCACCCCATCCCAGCCTCCAGCTCAAACCCCTGACACTCTCCAGCCAAGCCCTGCCCCTAGCCAAGGCCAGAGTCTGGGCTGGCCATCGTTTTCTTCCCGCTCTCTTGTCCTCTCTCTGTCTCTCTTACCTATTCCCAGAGGGTTTCCGGGAGATCTGCCCGGCTGGTCCTGGTTACCACTACTCGGCCTCCGACCTCCGCTACAACACCAGACCCCTGGGCCAGGAGCCACCCCGAGTGTCACTCAGCCAGCCTCGTACCCTGCCAGCCACCTCTCGGCCATCTGCAGGTGAGCTGGCTCTGGCAGAAGTGGGTGCCATCTTCAAGGGGCTGCCCCAGCCCCATAGTGAAAGGAGGCAAGAGAGGATTTGGGCTCCACTCGTTGATACCCCTTCTTTATCAGGCTTTCTGCCCACCCATCGCCTGGAGCCCCGGCCTGAACCCCGGCCCGATCCCCGGCCCGGCCCTGAGCTTCCCTTGCCCAGCATCCCTGCCTGGACTGGTCCTGAGATTCCTGAATCAGGTTTGCTAGAAAGAACTGAGGGCATTGGGCCTGCAGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGAGGGTGGATCACCAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAACTACAAAAATTAACTGGGCGTGGTGGCAGATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCTTGAGCGACACTCCATCTCAAAAAAAAAAAAAAAAAAAGAATTCAGGGCATTGATGGGGGTATTACAGGTGGGATTCTGGGGTAAAAGACTCCAAGGTGAAGATTCCAGGTTACAGCAAATAGGAATGGTATGGGCAGAGATAAGCGTTTGAAGGGTTGGGTGGTAGTTAGATCAGGAGCTGGAGTCACAGTTGGGCTCTTCTGTGTCAATCGAGCAAGCCATTTAACCTCTGAGACTCAGTTTTCTCATTGGTAAAATGGGGATGGTTGTTGAGATGCCTCTGAAGTGTCTGACACCTAGTAAGTGCTCAGATAAATACTTATGGTAGATAATTATTTTTCATTATCTAATATTAGATAATTATTTCTCAGGTAGGGCACTAAGAATGTATCTCAGGCGGAGGGTTGGAGAGCAAACTATTCAAAGCCAGAGACCTTGGGGTGGCATGATGAGGGGATTCGGCCAAGGATCTGATGAGAACGTTCCAGGATAAAAAAGATGGAGATCAGAAGAAGACTGGGCTTGCTTGGGGAGGAGACATCCATGAAGGTGTTTTATGGATGTCTCCGGGGGTGGGGGTTTTACTGGGATGAAAGGAACGGAGGATTCAGAGATGGGGGAACCCTGGCTGACTGGACCCCCAGGTCCCTCCTCCGGCATGTGTCAGCGCAACCCCCAGGTCTGCGGCCCAGGACGCTGCATTTCCCGGCCCAGCGGCTACACCTGCGCTTGCGACTCTGGCTTCCGGCTCAGCCCCCAGGGCACCCGATGCATTGGTGAGCAAGACGGAGGGCGCGGAAGGAGGCGGGGCGGGGGGCTTTGCCTGGTCACCTTGTCACCAGCCCCCTCCGTGTCCTCAGATGTGGACGAATGTCGCCGCGTGCCCCCGCCCTGTGCTCCCGGGCGCTGCGAGAACTCACCAGGCAGCTTCCGCTGCGTGTGCGGCCCGGGCTTCCGAGCCGGCCCACGGGCTGCGGAATGCCTGGGTGAGAAATTTGCCCCACCCGGCTCCAGGCCCACCCCAGGGTCTCGCTCCTGCTCTCACTCCAGAGCCTCTCCAGCCCTCCCACGCTTCCCCTCTCGGGTCCCGCCCCAGGACTGCTCTGCCCTGGCCCTTGGCCCTGCCCTTCCCTGACCCGCCTCCACCCAGCTCCAGCCTCCCTTTGACCCCACCCCTACCCAGCTCCCAAACTGCCAGTTTCTATCGGGGCCTGGTCGCAACTCGTATTGCTCCGCCCCCACGCCCAGGCCCCGCCCTTATTGGCCACGCCCCTCCCTGACTAACTCCCTCCCCCAGGCCCCGCCACTGTCCTGCAACTGCGGCAACCAATCTCCTGACCGCGACCCCGATTCCAACCCTGCCACACCAGAGCCCTATCCCCAAACTGCTCCTTTCTTCTCTAGCCCCTACCCCACCTTCCCTTAGCTTGGTCCCCAAAGCTCTCCTTTCTGCCCTTGCGCTACCAAACCCTGCCCTCCACAATTGCCTCTCTCACTGTGCCCCTCTCCGGCTGTCCTGGCCGGGTCCCCATCCTGGCTCTGGCCCAAGCTTGGTCCCGCTCCCGCTTCCCTCTACCCCTGCCTCCTTGCGTCGCTTCTCCCGGGGCTGTCTGCCCCAGTCCCAGCCGCCTGGTCTGTGCCTACAGATGTGGACGAGTGCCACCGCGTGCCGCCGCCGTGTGACCTCGGGCGCTGCGAGAACACGCCAGGCAGCTTCCTGTGCGTGTGCCCCGCCGGGTACCAGGCTGCACCGCACGGAGCCAGCTGCCAGGGTGAGGGCCTGGGAGGGGCAGCTGGGAAGGGGTGTGAGCGGTTGGGTAGAGCGCAGTGATGAGGGCCAGAGAGACTGAACAATAGGGCAAAGCGAGTTGATTTGGAGACAGAGGCCAGGCTCTCGAGCAGACGTGTGGCCTGATGGCAGTAGAGAGAGACCTGGGATGCAGAGGCCAAGTGATGGGAAACAGAAAGGCTGAGTCATGAAAGATGGAGAAGCAGAATGAGGAGGGATGGAGATGTCAGTAATCGGGTAAGGGGAGCAGAGTTATGGAGGAAAGGGGAGAAGGAGGCCTTCTCATGGGGACTACAGAGACAGAACCAGCCAGGCAGCTTAGTAGGGATTGGTGGAGGATGCAGAGTCAGATGATGGTGACAAGGAGGAATAGAGATGGGGTCACGGGGACAGAATGTTGGAGGGTGGAAAGCCAAAGTGACAGAGGTCAGGGAGGCAGAGGGGAACAAGTGACCCCGGGCCCCCTGCCCTGTGCAGATGTGGATGAATGCACCCAGAGCCCAGGCCTGTGTGGCCGAGGGGCCTGCAAGAACCTGCCTGGCTCTTTCCGCTGTGTTTGCCCGGCTGGCTTCCGGGGCTCGGCGTGTGAAGAGGATGTGGATGAGTGTGCCCAGGAGCCGCCGCCCTGTGGGCCCGGCCGCTGTGACAACACGGCAGGCTCCTTTCACTGTGCCTGCCCTGCTGGCTTCCGCTCCCGAGGGCCCGGGGCCCCCTGCCAAGGTGAGGGTGCTGAGCCCAGCCCTACTCCATCACTGTTTGCTGTGGAGACTGGAGAGAGATTATTGAGGGGCAGAGAGGCAGAGTGATGGGGCTCAGGGATGGAGAACAGGGGCTGAGGGATGGGGACCTCACTCCAGAGTCTTCTCTCCTTTCAACAAAATAAGGCAGTCCTCCN
|
benign
| 305,019 |
For chromosome 19, position 40692330, gene COQ8B (coenzyme Q8B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Nephrotic_syndrome,_type_9']
|
AAGACCCCGGTCTCCTGGGCTTTGGCTTGTTGGGCCTGTTCCTGGACCCCCACCCGGGACCACCCTCTCCAGCCTTGGCACCCTCTCTCCATCCGGGCGCCGCGGCCGCCTCCCACCCTCCGCCACATCAGCAGCGGCGCCGCCCCCGACCCGAGCCCCCCTCTCCCGCCCTTCTCACGCTGGCCGCCGCGCTGCGGGACATCCAGGGCCCGGGCGCCCCCGCCTCCCGCGGCCCTGGCTGGGCCTGGCTCCCCGACTGCTGCTGCTGCGGTGGTGGCGGCGGCAGCTCGGTCTGACGCCGGCCAGGGCCCGGGGCCGGGGGATGGTGCGGGATGCACGCGCGCGAGCCTCCTCGGCTCCCGGGAGGATTCCGTTCCGGGGGCGGGGGAGCGTCCCTCGGCCTCGGCTCCCCGCCCCGACCCCGCCCATTGGCCCGCCGCCTGCCGTATATGCAGAAAGGTCCCGCCCCGCCCCGCCCCTTGGCCTGAAGACCCCGCCCACACGCAGACACCATCCCGCCTTCCCCGGCGCGGCCACCGCCCCGCCACGCCCATTGGCCAGTCCCGAGCTGAGCATGCCTATGAACATCGCCGAGTCCTTTCCCCCGGTCCGTCCTGGCCTGGGCTCCCTTTCCCTCCGTGACACCTGACCTCAGATCCCCTCCAGCTCCGCGTCCGAAAGAGTTGCTTCTAGAGGCGCCTTGCCGCCCCACACCCCCAAATCTTCCCGCTAACCCCATGGTTCCCCAGCCCGGCGGGGGCGGGCAGGAGCGGTGACGAGGCACTTTTTGCAAGGAAGGGGAGGGGGTGTGAACAGACCAAGGCGTCCTGATGCGCGATCGGTTCGGCTTTGGGAACGGGGGCGCCGGGGTGGGACCAGGGCGCGGTTCTGGCCGCTACGGCGCCCCCGCCGCCCCCTACGCCAATCCTGTGGGTTTGGCAAAGCAGCTGGCAGGGACATTAGAGCCCATTAGTAAAGGCGAGGTTGCCAGGAGTGAGGGGAGGGAGCCCGCAGCCAAGAGGCACTGTGTGTGTGGGAGGCCTCAGCTGCCACAGCCCTTAGAGCAGGTGGTCAGCACGTGGGGGGGGGTGGGGAAGGCGAGAAGGAGGTTCCCGGCAACAGATGGCACAGGCAGGGCTGAGGCTTTCAGACAAGGGGGTGCAGGGGGGCTGGCCATCTGCACCTGGAGGCCGCTGGCGAGCTCCTCCCCCTCTCCCCCCAACCCTAGCGCAGAGAAAAGAGCTGGGGGAAGGGGAGGGCTGCTTTTATTCCGATTGAAGATTCAGCTCCCCCCCACCCCGCACCCCTACCTCTCCAACACACTGAGAGGCTGGAACCCGGGAGAAGGCAGCTGTTGGAGGAGCGAGGGAGGCAGAGGTGAGGACTGCCTCCAGGACCATCTCGCCTTCCACGGGAGGCTTGAGGCAGAGGTGAGGGCTCCCCCTGATGAGTCTGATCTGCATAACGACATGCAGCGGCCCAAGGCTCCCTCAAATGTTGGCAAAGATAAGTTAACCGCTTCCCTGGCTTAGTTTTCGGATACCCACTTTCGAGTGGGGAGGTGCAGGATCTAGGGCACGAAGTTGGGAGTTCCCCAGCCCCAGGGATCCTGAGCTCCTGGGCCAAGGAGGAGAGCCAGGCAAGACTGGGAAGCCCAAGGGGGCTCCTCTGACCCAGGGCAGACGGGGAAGGGATAAGAGGCACTACAGCAGGGTACGGCCTGCTCTGGGGACTGAATCCCCCATGGAGGCTGTCATGAGGGATCCACCCAGGAGTCCCCTTTGGTGGGGAGGCTGCCGGCAGTGGCTGCGTCTGGCTGGCGACTGGCCCAGTAGCGGTGGTAGGTGTCCTGGAAGAGGTCCCTGCAGGCGATGTGGGCTCGGAGGTGGGCACAGGCCAGGAAAGCCCCTGCCAGCTTGCGGTGCAGGGCATAGGTCTCCTCGGGTGGGGGACACAGCCGGTGCCGCAGCAGCACCGGGATGAGGTCCTGTATGCGGCGGGCCGTTTCCCCCGACCCAAAGTCATAAGGGCCCTGGGTGGCGAAAGGCTCCCCCAGGATCATCACTGCCTCCACGTGGGCGTCGGAGAATGCCTGGGAGTGGGGGTGGGGGGAGAGCAAAGGCAGCCAGTGTGGACATAGAGCCCTCTGCATAACCCAGAAACAACGTGTAGCCTCCACTCCCTCCAGTCTCCACCATCAACACAAGCCCCGACTCCCCCAAGAGTGAGCAGCTTCCACTCCTTCCAGAGCCTGGACTAGACAAGCAGCTGCCTATTCCCCGAGTAAGCACCCCTTACTTCCCTGCAGAGCCTCCAACAGACAAGTAGCCCTCTACTCTCTCTACAACAGAGAAGCGGCCTTCGCCCCTCCTGAACAGATCCACGGTGCCCATGTTCCCAGGGTTCCTGAGAAGTCAGGCAGCCACCTCCCCCCACTCCTCCCCAAAGCCCCCAGCATGGATAAGCATCCCTCCTAGAGTCACCCACTCCCCAGGTATAGACACACAGCCTCCATTCTCCCTAGTGGAGACAAGCCCCTCCTAGAGTCCCCCAGTCCCCGGGTATCGACATGCCCCATCACCTACTCGAGTTCCTCAGTGGAGATAAGCAGCCCCCCACTGCACCCCACCAACAGACACCAGCCCCTTTCTCCCCCAGTGTCTCCCCACCTTGGTTTCAAAGCCTGTGAGGAATTTGAGGTCCCTGGACTTCTGCAGGACACAGTCTCTGTCTCCATCAGCTGCAGCCTTCACCACCTGGGGAGACGGGTGGGAGTTAGAGGGACAAAGGCCGGGGCTCAAGGGGGCTCTGGAGAAGAGGAGCTGGAAGCCTGGGCCTCCCATGTACCCACCTCCATTCTCATCTGCCTGGGCCCTCCCTCACCTGGAAGCTTCCTGCTCCCAACTTTGCCTGTCTGTGACTCCCTTAAAGACTCTTCCAGAGCCTGGGAGTGGAGGTGGTTAGGGATCCTGCCCACCTAGAGGGCAATGTGGGGCCTGCCCGGGAACTGCCACAGTGAAACAGTGCAAGAAACAAGTGTCAGGGCTGCTGGTGAGTCCAAACACTCAACTGGACGGGTATGAGCGTGACCCAGAACTGCATCCAAAGTTGCCAGGGGCCATCTCTCTGTCTCCCACACTGGACTTTGAGCCCCGTGAGAGCAAGGATCCCAGTTGGGTTTAGTCGCACGGGGCACAGGGTCTGGTGCTGAGGAGGCCCTGGGTGAACCTTGCTTTAGCAAATGAGCGTGTGGAGCAGAGCAGCTCTCCAGCCATGAGCTCACACACACAGGGCAGGAGTTGTGGGCATGGAGAGATGCCCAGCTGGGGCCAGCTGGCTAGGGTTCCGTCCCAGCTCTGCCACCTGCCGGCCTGTTGGGCCTCCACTTTCTCATCTGTGAAGTGGGGATGCCAAAAGTGCCTTCCTCATGGGGCTGTTGGGAGGATAAAGAAGGTGATGCCTGTGGCCTGCCTGGCGCTGTGTCTCATGCAGGAAGCACCGTAAATACTATAATCTACCATTATTAAGAGGTGGGCACGGGGGTCCCTATTTCACAGAAGGGGAAGCAGACCCGGAGTAGGGAGTGGAACCGGGTCACACCACTCACTACTGGGTTGCCCTTTTTTGTGAGGAGGGGGATTCGGGATTAATTCCATTCCCTCTCTGCTCCCCCTGCCCGAGCATGTCTGGCCATCTGTCAGGCCTGTGGTCCTCAGAAGCCAGGGCTTTTATAAAGTGGCAAAGGCTGCAGGCCTGGGTGGGAGGGGAGGGTGTCAGTGGGGAGAAGAAGGGTCTCAGCTTTGTGCCTCAGTGGCCGGCAGAGAGGGCCCCAAGGGGCCTGTGTGTAAGGGGTTATCACCTCCTCTTCCTGTTCCTGTCTCAGAGGTGGCCCCACCAGTCCCCAGACCAGACCCCTAGACACCTCTGTCCCCAACTTCTAGCCCGTCTGCTCCCATGGACTGCCAGCTGGGCATCTCCCAGCCACCCCTCTGCCCCTCTCCACAGCTGCCCTGAGCTCCCACCCCCAGGCTTAGAGACCACTTCTTATTCAGAGGGAGTTTTCAAATTCTGACTGCATCCCTTCCCTGCTCAAATC
|
AAGACCCCGGTCTCCTGGGCTTTGGCTTGTTGGGCCTGTTCCTGGACCCCCACCCGGGACCACCCTCTCCAGCCTTGGCACCCTCTCTCCATCCGGGCGCCGCGGCCGCCTCCCACCCTCCGCCACATCAGCAGCGGCGCCGCCCCCGACCCGAGCCCCCCTCTCCCGCCCTTCTCACGCTGGCCGCCGCGCTGCGGGACATCCAGGGCCCGGGCGCCCCCGCCTCCCGCGGCCCTGGCTGGGCCTGGCTCCCCGACTGCTGCTGCTGCGGTGGTGGCGGCGGCAGCTCGGTCTGACGCCGGCCAGGGCCCGGGGCCGGGGGATGGTGCGGGATGCACGCGCGCGAGCCTCCTCGGCTCCCGGGAGGATTCCGTTCCGGGGGCGGGGGAGCGTCCCTCGGCCTCGGCTCCCCGCCCCGACCCCGCCCATTGGCCCGCCGCCTGCCGTATATGCAGAAAGGTCCCGCCCCGCCCCGCCCCTTGGCCTGAAGACCCCGCCCACACGCAGACACCATCCCGCCTTCCCCGGCGCGGCCACCGCCCCGCCACGCCCATTGGCCAGTCCCGAGCTGAGCATGCCTATGAACATCGCCGAGTCCTTTCCCCCGGTCCGTCCTGGCCTGGGCTCCCTTTCCCTCCGTGACACCTGACCTCAGATCCCCTCCAGCTCCGCGTCCGAAAGAGTTGCTTCTAGAGGCGCCTTGCCGCCCCACACCCCCAAATCTTCCCGCTAACCCCATGGTTCCCCAGCCCGGCGGGGGCGGGCAGGAGCGGTGACGAGGCACTTTTTGCAAGGAAGGGGAGGGGGTGTGAACAGACCAAGGCGTCCTGATGCGCGATCGGTTCGGCTTTGGGAACGGGGGCGCCGGGGTGGGACCAGGGCGCGGTTCTGGCCGCTACGGCGCCCCCGCCGCCCCCTACGCCAATCCTGTGGGTTTGGCAAAGCAGCTGGCAGGGACATTAGAGCCCATTAGTAAAGGCGAGGTTGCCAGGAGTGAGGGGAGGGAGCCCGCAGCCAAGAGGCACTGTGTGTGTGGGAGGCCTCAGCTGCCACAGCCCTTAGAGCAGGTGGTCAGCACGTGGGGGGGGGTGGGGAAGGCGAGAAGGAGGTTCCCGGCAACAGATGGCACAGGCAGGGCTGAGGCTTTCAGACAAGGGGGTGCAGGGGGGCTGGCCATCTGCACCTGGAGGCCGCTGGCGAGCTCCTCCCCCTCTCCCCCCAACCCTAGCGCAGAGAAAAGAGCTGGGGGAAGGGGAGGGCTGCTTTTATTCCGATTGAAGATTCAGCTCCCCCCCACCCCGCACCCCTACCTCTCCAACACACTGAGAGGCTGGAACCCGGGAGAAGGCAGCTGTTGGAGGAGCGAGGGAGGCAGAGGTGAGGACTGCCTCCAGGACCATCTCGCCTTCCACGGGAGGCTTGAGGCAGAGGTGAGGGCTCCCCCTGATGAGTCTGATCTGCATAACGACATGCAGCGGCCCAAGGCTCCCTCAAATGTTGGCAAAGATAAGTTAACCGCTTCCCTGGCTTAGTTTTCGGATACCCACTTTCGAGTGGGGAGGTGCAGGATCTAGGGCACGAAGTTGGGAGTTCCCCAGCCCCAGGGATCCTGAGCTCCTGGGCCAAGGAGGAGAGCCAGGCAAGACTGGGAAGCCCAAGGGGGCTCCTCTGACCCAGGGCAGACGGGGAAGGGATAAGAGGCACTACAGCAGGGTACGGCCTGCTCTGGGGACTGAATCCCCCATGGAGGCTGTCATGAGGGATCCACCCAGGAGTCCCCTTTGGTGGGGAGGCTGCCGGCAGTGGCTGCGTCTGGCTGGCGACTGGCCCAGTAGCGGTGGTAGGTGTCCTGGAAGAGGTCCCTGCAGGCGATGTGGGCTCGGAGGTGGGCACAGGCCAGGAAAGCCCCTGCCAGCTTGCGGTGCAGGGCATAGGTCTCCTCGGGTGGGGGACACAGCCGGTGCCGCAGCAGCACCGGGATGAGGTCCTGTATGCGGCGGGCCGTTTCCCCCGACCCAAAGTCATAAGGGCCCTGGGTGGCGAAAGGCTCCCCCCAGGATCATCACTGCCTCCACGTGGGCGTCGGAGAATGCCTGGGAGTGGGGGTGGGGGGAGAGCAAAGGCAGCCAGTGTGGACATAGAGCCCTCTGCATAACCCAGAAACAACGTGTAGCCTCCACTCCCTCCAGTCTCCACCATCAACACAAGCCCCGACTCCCCCAAGAGTGAGCAGCTTCCACTCCTTCCAGAGCCTGGACTAGACAAGCAGCTGCCTATTCCCCGAGTAAGCACCCCTTACTTCCCTGCAGAGCCTCCAACAGACAAGTAGCCCTCTACTCTCTCTACAACAGAGAAGCGGCCTTCGCCCCTCCTGAACAGATCCACGGTGCCCATGTTCCCAGGGTTCCTGAGAAGTCAGGCAGCCACCTCCCCCCACTCCTCCCCAAAGCCCCCAGCATGGATAAGCATCCCTCCTAGAGTCACCCACTCCCCAGGTATAGACACACAGCCTCCATTCTCCCTAGTGGAGACAAGCCCCTCCTAGAGTCCCCCAGTCCCCGGGTATCGACATGCCCCATCACCTACTCGAGTTCCTCAGTGGAGATAAGCAGCCCCCCACTGCACCCCACCAACAGACACCAGCCCCTTTCTCCCCCAGTGTCTCCCCACCTTGGTTTCAAAGCCTGTGAGGAATTTGAGGTCCCTGGACTTCTGCAGGACACAGTCTCTGTCTCCATCAGCTGCAGCCTTCACCACCTGGGGAGACGGGTGGGAGTTAGAGGGACAAAGGCCGGGGCTCAAGGGGGCTCTGGAGAAGAGGAGCTGGAAGCCTGGGCCTCCCATGTACCCACCTCCATTCTCATCTGCCTGGGCCCTCCCTCACCTGGAAGCTTCCTGCTCCCAACTTTGCCTGTCTGTGACTCCCTTAAAGACTCTTCCAGAGCCTGGGAGTGGAGGTGGTTAGGGATCCTGCCCACCTAGAGGGCAATGTGGGGCCTGCCCGGGAACTGCCACAGTGAAACAGTGCAAGAAACAAGTGTCAGGGCTGCTGGTGAGTCCAAACACTCAACTGGACGGGTATGAGCGTGACCCAGAACTGCATCCAAAGTTGCCAGGGGCCATCTCTCTGTCTCCCACACTGGACTTTGAGCCCCGTGAGAGCAAGGATCCCAGTTGGGTTTAGTCGCACGGGGCACAGGGTCTGGTGCTGAGGAGGCCCTGGGTGAACCTTGCTTTAGCAAATGAGCGTGTGGAGCAGAGCAGCTCTCCAGCCATGAGCTCACACACACAGGGCAGGAGTTGTGGGCATGGAGAGATGCCCAGCTGGGGCCAGCTGGCTAGGGTTCCGTCCCAGCTCTGCCACCTGCCGGCCTGTTGGGCCTCCACTTTCTCATCTGTGAAGTGGGGATGCCAAAAGTGCCTTCCTCATGGGGCTGTTGGGAGGATAAAGAAGGTGATGCCTGTGGCCTGCCTGGCGCTGTGTCTCATGCAGGAAGCACCGTAAATACTATAATCTACCATTATTAAGAGGTGGGCACGGGGGTCCCTATTTCACAGAAGGGGAAGCAGACCCGGAGTAGGGAGTGGAACCGGGTCACACCACTCACTACTGGGTTGCCCTTTTTTGTGAGGAGGGGGATTCGGGATTAATTCCATTCCCTCTCTGCTCCCCCTGCCCGAGCATGTCTGGCCATCTGTCAGGCCTGTGGTCCTCAGAAGCCAGGGCTTTTATAAAGTGGCAAAGGCTGCAGGCCTGGGTGGGAGGGGAGGGTGTCAGTGGGGAGAAGAAGGGTCTCAGCTTTGTGCCTCAGTGGCCGGCAGAGAGGGCCCCAAGGGGCCTGTGTGTAAGGGGTTATCACCTCCTCTTCCTGTTCCTGTCTCAGAGGTGGCCCCACCAGTCCCCAGACCAGACCCCTAGACACCTCTGTCCCCAACTTCTAGCCCGTCTGCTCCCATGGACTGCCAGCTGGGCATCTCCCAGCCACCCCTCTGCCCCTCTCCACAGCTGCCCTGAGCTCCCACCCCCAGGCTTAGAGACCACTTCTTATTCAGAGGGAGTTTTCAAATTCTGACTGCATCCCTTCCCTGCTCAAAT
|
pathogenic
| 305,142 |
Variant chromosome 19, position 40700302, gene COQ8B (coenzyme Q8B): benign or pathogenic? Disease(s)?
|
benign
|
TCCCTCCCATCTGTGACATACTGACATCATCTATTCCATAAAAAAAAAAAAAGTGCTGGTGGATCATGAGGTCAGGAGTTCAAGACTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAATTGATGTCAGGACTCCTATCACTTGGAGTTGGGTAAACATATCCCTGGGGTATGAACCTAGGAGGGGACACAGGGTGTATGCACATTGTGGAGAAAGAAGAGGCAAGGGACTAGGGCTGGAGACTCCGTGGGGCCACAGGATGCTCAGCAAAGGGTTCAGACTTGATTCTGAGGGGGCTGTGAAGCTGTAGGAGGGATATCTTGACCAGATTTGTGCTTTAGAAAGACCCCTCTGGGGACAAAATGGGGATAGACCACTTTGGAAAACAGTTGGCAACCCCTGATAAAGGTAATGATGTATCCACCAACACTCAAGTCTGCAGGTCCAAACCTTCACTACAGGTCTTTGTACACCCCCTGCCCTCTGCTGGGAACACTCTGCTCTCTGGATGGTTGTCTCCTTTTCCCCTGTCCCATCTCAGCCTTTTTTTTTTTTTTAAATAGAGCCCAGGCTGGTTTTAAATTCCTGGCCTCAAGGGATCCTCCTGCCTCAGCATCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCTCAGCCTCTGGTCTCAGCTTTTTTTTTTTTTCTTTGGTGAGACAGAGTCTCGCCCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTGGTTCGCTGCAGCCTCGACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCTCAGTGGCCTCAGCTTTAATGGCACTTGCTTTAAGAAGCCTCCCTTAATCCCTGCTCACCCCACAGTGAGTCAGGCACTTTCCCTGGGATCCCATAACTTCCTGTGCCTCCCCCAACTCCAGCCCCCACCCCTCTGCCTGTGCCTCCCCCATCCCGGTCCTGACCCATCTGGCCTGTGCTCCTCATTGTGGTTGGTACGAACCACTCTAGGTCATCGCTGTGTGGTGCCAGGTCCCCCCACTGGACTGGGCACTCTGAGAAGGCAAGGGTCAGGGATGTCTTTTTATTGCTGTCAAGAGGCAAGGGCAGGTGATGGTGTGTTCTGTATGGATGACGAGTGTGGTAGTGATGGCTAACTGCCTTCCAAAAGCTGTACTTCCCCTCTGTGCTGTCACATTGCCACCAGGAACCACTGCCTAGCCAGGGACTCCATTTTCCAGCATGCCTTGCACCTAGGCAGGCTATGTCACTAGCTCTCACTGATGGAATGGCAACGGAAGTGCTATGTCCATTGCCCCAGGATGAGCTTAGTGTATTTAGCCTGGGCATTACTTTTTCCACTTCTGGCCAAAGCAGTTAGGCAGGGGGCTACCCTCAACCTCTCTTACCCTTTCCTTGGGAAGCAGAGCGTTGCAAGGCCCCAGGGATGGCAAAACCACAAAAGGGAAGGAGCTGGGTCCCTGAATCCCACTTGGAAAAGGGCCACCCCTGCCTATTGTGGGGGTAATCAACTGCTATTTTGTTGAGCTACCGAAATATCAAGGAATATTTGTTACAACAGCAAATGTACCCAGACACACATCACTAGGAACCAACCTGGTGGCTGGAGGCATCATACAGGAAGTTGGCCCAGTTGGGGTCAGTCTGCATGAATCGGAACTCAAACAGCTCCCGCAGACACAGCGTCAGGAGCTGGAAGCAAATCTGGGGTGGGGAGAATTAACAGGCATCTCAGTGTGATCTCCCTTGTGGTGCCACTGCTGGCCTGGAGAGAGACCATGAGCCTGGCCCACCCGCCCTGGGGCCATGCCCTTCCCACTGTGCCACCAGACAGCATACCTGGTTCCGCAGGTCCTGGCTTAGGCCCTGGCACTGGTCCAGGGGGACCCCTCCAGCCAGCTCCATGCCCAGCACCCGTGTCGTGCACAGCTCCTTAACCACGGCTGGGACCCGGAAGAAGGGGTCATTTGCCAGCAGCTGCCTGGGGCAGAAGGAAAGGGAGGAAGGGGACTTCGTGCTTCAGGCTTGTGACCCAGCTTGAGACCTCCTCCTTGTGCTCTCAGAAGTCCTCCATGAACAGTCTGCGCCATGCCCTCCCTCCTGCCCATCTCTTGCTGCTGTCTGCCCTGGGTGATGACCAACACCTGGCTGGACTGAGATTTAACAAGTATCTCCAAGGTGCCTACTCTGCACCTGCCTCTCAACTGGGTGCTGCTGGAAACCCAGTCACCACTTCCCTACCCGAAACCCTTCTATGACTTCTGGTTGCCCCAGAAGGATGAGTTCAGGTGTATTTCAGCCTTTGCATTACTTTTTCATTAATTTATTAATTCATTCATCCCAAAAGTAGTCACTGGTATCAAAATCTGTGAAGTCTATAGTGATACCCATGGGTCAGTCCTTGCAATCACTACTCTGAACACAGGTAAATAGCGGGAAAGAATCTTCTGTGTCCATCCTTGTGCTAAATGATGCTGGGGACAGAGCAGTGAATGAACCAGTCCCTGGACCTGGCCCCCAACCCCGAGACCACACTCTCACAAACAGACGGATTATAGATTGAGGTAAGTGTGTTGGCTGGGTGCAGTGGCTTACACCTGTAATCCCAGCAGTTTGAGACACCGAGGTGGGAGAATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCGTCTTTATGAAAAACTACAAAAATTAGCTGGGCGTGGTGGCCTGCGCCTATGTTCCCAGCTACTCAGGAGGCTGAGGTGGGAAAATCACTTGAGCCTGGGAGGTCGAGGCTGGAGTGAGCTGTGATCTCACCACTGTATTCCAGCCTGGAAAACAGAGCGAGACCCTGTCTCAAAAAAATAAAAGAAGTATGTCTATGTAAGATTTGGGAGGCAGAGAATATGAGCAAGGTCTCTGGTTGAGGATCCGTGGGATGGCTGGAGGAGAGTGAGGGAGAACAGGAGGGTGGTGTGGGGTTTTATCCTAAGGGCACCCGGGAATCCTGTGGGGGACGGGGGGGTCTCTGGCCCATCACCCCACTTCACACTCTCTTCCTTGAGCTCCTCCTTTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGG
|
TCCCTCCCATCTGTGACATACTGACATCATCTATTCCATAAAAAAAAAAAAAGTGCTGGTGGATCATGAGGTCAGGAGTTCAAGACTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAATTGATGTCAGGACTCCTATCACTTGGAGTTGGGTAAACATATCCCTGGGGTATGAACCTAGGAGGGGACACAGGGTGTATGCACATTGTGGAGAAAGAAGAGGCAAGGGACTAGGGCTGGAGACTCCGTGGGGCCACAGGATGCTCAGCAAAGGGTTCAGACTTGATTCTGAGGGGGCTGTGAAGCTGTAGGAGGGATATCTTGACCAGATTTGTGCTTTAGAAAGACCCCTCTGGGGACAAAATGGGGATAGACCACTTTGGAAAACAGTTGGCAACCCCTGATAAAGGTAATGATGTATCCACCAACACTCAAGTCTGCAGGTCCAAACCTTCACTACAGGTCTTTGTACACCCCCTGCCCTCTGCTGGGAACACTCTGCTCTCTGGATGGTTGTCTCCTTTTCCCCTGTCCCATCTCAGCCTTTTTTTTTTTTTTAAATAGAGCCCAGGCTGGTTTTAAATTCCTGGCCTCAAGGGATCCTCCTGCCTCAGCATCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCTCAGCCTCTGGTCTCAGCTTTTTTTTTTTTTCTTTGGTGAGACAGAGTCTCGCCCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTGGTTCGCTGCAGCCTCGACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCTCAGTGGCCTCAGCTTTAATGGCACTTGCTTTAAGAAGCCTCCCTTAATCCCTGCTCACCCCACAGTGAGTCAGGCACTTTCCCTGGGATCCCATAACTTCCTGTGCCTCCCCCAACTCCAGCCCCCACCCCTCTGCCTGTGCCTCCCCCATCCCGGTCCTGACCCATCTGGCCTGTGCTCCTCATTGTGGTTGGTACGAACCACTCTAGGTCATCGCTGTGTGGTGCCAGGTCCCCCCACTGGACTGGGCACTCTGAGAAGGCAAGGGTCAGGGATGTCTTTTTATTGCTGTCAAGAGGCAAGGGCAGGTGATGGTGTGTTCTGTATGGATGACGAGTGTGGTAGTGATGGCTAACTGCCTTCCAAAAGCTGTACTTCCCCTCTGTGCTGTCACATTGCCACCAGGAACCACTGCCTAGCCAGGGACTCCATTTTCCAGCATGCCTTGCACCTAGGCAGGCTATGTCACTAGCTCTCACTGATGGAATGGCAACGGAAGTGCTATGTCCATTGCCCCAGGATGAGCTTAGTGTATTTAGCCTGGGCATTACTTTTTCCACTTCTGGCCAAAGCAGTTAGGCAGGGGGCTACCCTCAACCTCTCTTACCCTTTCCTTGGGAAGCAGAGCGTTGCAAGGCCCCAGGGATGGCAAAACCACAAAAGGGAAGGAGCTGGGTCCCTGAATCCCACTTGGAAAAGGGCCACCCCTGCCTATTGTGGGGGTAATCAACTGCTATTTTGTTGAGCTACCGAAATATCAAGGAATATTTGTTACAACAGCAAATGTACCCAGACACACATCACTAGGAACCAACCTGGTGGCTGGAGGCATCATACAGGAAGTTGGCCCAGTTGGGGTCAGTCTGCATGAATCGGAACTCAAACAGCTCCCGCAGACACAGCGTCAGGAGCTGGAAGCAAATCTGGGGTGGGGAGAATTAACAGGCATCTCAGTGTGATCTCCCTTGTGGTGCCACTGCTGGCCTGGAGAGAGACCATGAGCCTGGCCCACCCGCCCTGGGGCCATGCCCTTCCCACTGTGCCACCAGATGGCATACCTGGTTCCGCAGGTCCTGGCTTAGGCCCTGGCACTGGTCCAGGGGGACCCCTCCAGCCAGCTCCATGCCCAGCACCCGTGTCGTGCACAGCTCCTTAACCACGGCTGGGACCCGGAAGAAGGGGTCATTTGCCAGCAGCTGCCTGGGGCAGAAGGAAAGGGAGGAAGGGGACTTCGTGCTTCAGGCTTGTGACCCAGCTTGAGACCTCCTCCTTGTGCTCTCAGAAGTCCTCCATGAACAGTCTGCGCCATGCCCTCCCTCCTGCCCATCTCTTGCTGCTGTCTGCCCTGGGTGATGACCAACACCTGGCTGGACTGAGATTTAACAAGTATCTCCAAGGTGCCTACTCTGCACCTGCCTCTCAACTGGGTGCTGCTGGAAACCCAGTCACCACTTCCCTACCCGAAACCCTTCTATGACTTCTGGTTGCCCCAGAAGGATGAGTTCAGGTGTATTTCAGCCTTTGCATTACTTTTTCATTAATTTATTAATTCATTCATCCCAAAAGTAGTCACTGGTATCAAAATCTGTGAAGTCTATAGTGATACCCATGGGTCAGTCCTTGCAATCACTACTCTGAACACAGGTAAATAGCGGGAAAGAATCTTCTGTGTCCATCCTTGTGCTAAATGATGCTGGGGACAGAGCAGTGAATGAACCAGTCCCTGGACCTGGCCCCCAACCCCGAGACCACACTCTCACAAACAGACGGATTATAGATTGAGGTAAGTGTGTTGGCTGGGTGCAGTGGCTTACACCTGTAATCCCAGCAGTTTGAGACACCGAGGTGGGAGAATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCGTCTTTATGAAAAACTACAAAAATTAGCTGGGCGTGGTGGCCTGCGCCTATGTTCCCAGCTACTCAGGAGGCTGAGGTGGGAAAATCACTTGAGCCTGGGAGGTCGAGGCTGGAGTGAGCTGTGATCTCACCACTGTATTCCAGCCTGGAAAACAGAGCGAGACCCTGTCTCAAAAAAATAAAAGAAGTATGTCTATGTAAGATTTGGGAGGCAGAGAATATGAGCAAGGTCTCTGGTTGAGGATCCGTGGGATGGCTGGAGGAGAGTGAGGGAGAACAGGAGGGTGGTGTGGGGTTTTATCCTAAGGGCACCCGGGAATCCTGTGGGGGACGGGGGGGTCTCTGGCCCATCACCCCACTTCACACTCTCTTCCTTGAGCTCCTCCTTTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGG
|
benign
| 305,153 |
Chromosome 19, position 40703786, gene COQ8B (coenzyme Q8B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Nephrotic_syndrome,_type_9']
|
GGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGGACCACAGTGGATATGCGGCCCATCTGACACAGGAGAAGACTGCCGCTTGGGAAGTGACCTGCCCAAGCTCACAGAGGACAAAGGGGGTAAGCGAAGTGATGGATGAGTGGAAGGATGGATGAACAATGATTGAAAGAAAGAGAGAGTTTGCCCTACCCCACAGCTCCAGCTGCCAGAAGCTGAGGGGGCAGCTACTTCCCACCCAGCCTGGGAGGGAGGGAAGGAGGGAAGCTCAGGGCACTCAGCTCACCTGAAATTCTGGGCACAAGCCGCCTCACGACGGTAGTCACACTCCCAAGCCAGCTCCTGCTGCAAGGCCTGCAGGCTCTGCTCGGCAAACAGGCCTGTGGGGGAGGTGTGTCAGCCAGGGAAGGGCCCCGAGCGCCCACTGGTGGATGCCTTCTCCTGCCAACCCTCTCTCTCCTGTCTCCCGCGCTGTCCCTCACAGCTCCTACTCTAGGCCTGTGACCCACATCTGTCCCTCTCCTGTCTCCCACGCAGCTCCTGCTCCTGCCTCTGACCTGCATCTGTCCCTCTCCTGTCTCCCCCGCTGCCCCTTGCAGCTCCTGCTCCAGGCCTCTGACCTGCATCGTATCATCTGTCTACACATTTCCCTCGTCCTTCATAGCACCACAGGGTTCCCCGGGGTCTTCCGAAGCCTTTTCTGGGCTCTGTCTCTTGCACATGCCTGCACCCCAGTCCCTGGCAGCTCTTTCAGAGTCACGCCTGCCTCTATTCTGTCTCCTTTTCATACTGACTCTCACGTTGCTCACTGCATCTGAATCTCACTTCTGGGCCTGGCTTTCCCTCTCCCTCTCCGTCTCTTACACAAACACAACCCACCCTCCTTTCTCTAGGCGCCTCCTCACGTGCCATCCCCAGGACTGTCCTTTTCTGCTCTGCCGCACCTACAATCCCGCTCCCTGCATGCACACCCTCTGAGAGTCTGCTGCTGTATCTTGGCCCTGGGCTCCCGTCTCTCTAAGGCTCTGTTAAAATCCATAAGGCTTTTCCCACACCTGCTCATGCTCCCTGGGCTCTCCCCGCCTTGGTGTCCTTTCTGTCTCTGACACTCCCGCTCACAACGCCAGCACACCCTGCCCGTGCTCTCCTCTGGGCTCCCCCTCCTGCTTTCTCTCTCTGGGCATAGCCCCTTTGGGAGGTCAGCAGAGGAGTGGGTGGGCGCCTCACCCGCGGGCAGGGCCGCGCTCATCTTGAGTACCGCCAGCAGGTTCTGGACATCGCTCTGAATGCTCTGGGCTATGCCGGGGTACTGTAAAGGGAGAAGGGAGGGAGAGAAGGTGGGAGTCACTTCTCTGGGCTAGCAGGGTGCCCGCCCCTACCCTGCCCAGCCTCCCCTCTCACCTGGATCTTCACGGCCACCTCCGTCCCGTCCCTCAGCAGGCCCTGGTGCACCTGCCCAATTGAGGCAGCGGCAAAGGGCACCTCCTCCAAGGAGGCCACCTTGGCCTGCCAGTCCCTGCCGAGCTCCTCTTCAAGAACTCTCTGCGGGGAGTGGTCACAGCCATCATCATTGTGGCAGAGTTCATTCCCCAGGCTGAGTGCTTTACGTGTTGATAACCCCAGCACTCACCACATGCAGGGCCCTGGGCTAAGCTCTTGGCTGCCACCCCCTTTGCAGATGAGGAAACTGAGGCTCAGAGAGAGCTCCCTTGTGCAAGTGACTAGCCAGGCACTGGCAGACTGTGAGGCTCAGCCTAGCCTGTGTCCCCTGAACCTGGACTCCCTGGGCTGTTGTGGGGATTGCTATTATTTATAGTTAAGACTCATAACAATCCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTAGCCCAGGCTGGAGTGTAGTGGCACTCTCACGGCTCACTGCAGCATCAACCTCCCGAGCTCAAGCCATCCTCCTGCCTCCTGAATAGCTGGGACTACAGATATGTGCCACTGTGCCCAGCTAATTATTACTGTTATTATGTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGGTGGTCTGGAAGTCCTGAGCTCAAATGATCCTCCCACCGCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTACACGTGGCCAACCATCCTTTATTATGCTCTTATATGTTATTATTAACTCACAGTTACTGTGATCAAGAAGAGCTAAAATTTACAATGGGCTTCCTGTGGGCCAGGTCCTATTCAGAGTGGCCCAGAGAGAGGCAGTACCTGCCTGGGGCCGCATGGCGAATAAGCAGAACAGGGATGGGAGAGCAGGTGGGTGGCGGAATCCTGGATTCCATGCCTTACCCAGTTATTAGAACAGCTCATGTCCTGGGCACTTACTTGGTGCCAGGCGCCGTGCCAACCTATTACAGACACGATCTCCTTTAATTAAAAAAACAGTAATAATCACAGCTAACACCTGCATGTTGCTCACAGTGAATCAGGGGCCGTTCTCAGTGCTCAGTGTAAACTGATTTATGTGACCCTATGATGTGGGTGTGGCTGTCACTATCGCCATTTCCCAGGGAAGGGAACTGAAGCACAGAGAGGTCAGGCTGCTGTTCCCTGTTTTAATCACCACAGCAATGCTAGGAGGTGTGTACTCTGGTGATTCCCATTTTACAGATGGGGAAAGTGAGGCTCAGAGGCAGGGAGTGGGGCAGTGAAGCCAGGAAGGTCAGGCAGGTCAGAGGAGATGGAGCCTGCCTCCCTCACCGCCCTCCCCCACTGGGCACTCACCAGCATCTGCCAGCGGGGCATGAAGTCGGCGCTCTGGCGGACCCGCTCAAAGATGTGCTGCAGCTGAGGGCTGATGAAGCTGTTGTCTTGGGAGACAGTGGAACCAGGGGGGAAGTAAGCGAAGAGGTGAGGAGGGACCCCGTGTGAGTATCTGAAGTTGGGGCCTGTTGGTGGGTAGGGCTGGGGTAGAAGGGAGGTCAGGGGTCAGGAGTCGAGGGTCATGCTGTACCCTGGATGCTGAGCATCTGGCCAACCTTGAGGGCGGCCCCTCGAACTGTACATAAGGTCTGCACAATCCGCTCGGCATTGGCCTCCGACAGGAAGGGGCTGGAGTCCAGCCCAGAACCACCCTCTGGGGAGAGAACAACCATTAGAATTATAACCACAAATATCATCACTGCGGCCAGGCCCGGCGGCCCACGCCTGTAATCCCAGCACTTTGGGAGACCCAGGCGGGATGAACACAGGAGTCTGAGACCAGTCTGGGCAACAGTGACATCCTTTCTCTATTAAAAAAAATATATATCATCTGCACACCAACAGGAATGGCTAAAACGAAATACGGAGGCCAGGCTTGTTGGCTCGCGCCTATAATCCCAACACTGGGAGGTCAATGCAGGAGGATGGCTTGAGTCAAGGAGTTCCAGACCAGCCTGGATAACAAAGCAAGACCCTGTCTCTAATTAGCTGGGTGTATGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAG
|
GGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTGGAGGACCCCACTGAGGTGCCATTAATTGCTACACATCAGGATGCTTCCAAGATATAACCACATTGTTCCACGTAGCCATAGTTCATGCATTTTCACTGCTACGTAATATTCCACAGATGAATATACCGTTGCTTATTTGTCCACCCTGCTGGATAAACTTGATGGATATGGGTTGTTTCCAGTTTGGGGCTGTTGCAGACAAGCGTTCTAGAACAGTCTGATGATGGATACTGGCAAAAGGGTCCCTAGAGTGTTCAGCAGGGAGGGCAATCGTTGGCTTGCAGAGTTCTTGAATATAAGGGCTTATGTGATGATGCCAACCTGTTCTCAAAATGCTTCTACCACCTTCTCCCACAACCTGCAGTGCAGAAGGGATGCTGTGGAGCCCACTCTCTCTACCTCCCAGTGCTGTGGGCTCCTTGCTCTCCGTCAGTCCAGCAGAGGTAAGAGTGTGTCATTGTGTAATTAATTAAGTGCCTGTGTCGGACCACAGTGGATATGCGGCCCATCTGACACAGGAGAAGACTGCCGCTTGGGAAGTGACCTGCCCAAGCTCACAGAGGACAAAGGGGGTAAGCGAAGTGATGGATGAGTGGAAGGATGGATGAACAATGATTGAAAGAAAGAGAGAGTTTGCCCTACCCCACAGCTCCAGCTGCCAGAAGCTGAGGGGGCAGCTACTTCCCACCCAGCCTGGGAGGGAGGGAAGGAGGGAAGCTCAGGGCACTCAGCTCACCTGAAATTCTGGGCACAAGCCGCCTCACGACGGTAGTCACACTCCCAAGCCAGCTCCTGCTGCAAGGCCTGCAGGCTCTGCTCGGCAAACAGGCCTGTGGGGGAGGTGTGTCAGCCAGGGAAGGGCCCCGAGCGCCCACTGGTGGATGCCTTCTCCTGCCAACCCTCTCTCTCCTGTCTCCCGCGCTGTCCCTCACAGCTCCTACTCTAGGCCTGTGACCCACATCTGTCCCTCTCCTGTCTCCCACGCAGCTCCTGCTCCTGCCTCTGACCTGCATCTGTCCCTCTCCTGTCTCCCCCGCTGCCCCTTGCAGCTCCTGCTCCAGGCCTCTGACCTGCATCGTATCATCTGTCTACACATTTCCCTCGTCCTTCATAGCACCACAGGGTTCCCCGGGGTCTTCCGAAGCCTTTTCTGGGCTCTGTCTCTTGCACATGCCTGCACCCCAGTCCCTGGCAGCTCTTTCAGAGTCACGCCTGCCTCTATTCTGTCTCCTTTTCATACTGACTCTCACGTTGCTCACTGCATCTGAATCTCACTTCTGGGCCTGGCTTTCCCTCTCCCTCTCCGTCTCTTACACAAACACAACCCACCCTCCTTTCTCTAGGCGCCTCCTCACGTGCCATCCCCAGGACTGTCCTTTTCTGCTCTGCCGCACCTACAATCCCGCTCCCTGCATGCACACCCTCTGAGAGTCTGCTGCTGTATCTTGGCCCTGGGCTCCCGTCTCTCTAAGGCTCTGTTAAAATCCATAAGGCTTTTCCCACACCTGCTCATGCTCCCTGGGCTCTCCCCGCCTTGGTGTCCTTTCTGTCTCTGACACTCCCGCTCACAACGCCAGCACACCCTGCCCGTGCTCTCCTCTGGGCTCCCCCTCCTGCTTTCTCTCTCTGGGCATAGCCCCTTTGGGAGGTCAGCAGAGGAGTGGGTGGGCGCCTCACCCGCGGGCAGGGCCGCGCTCATCTTGAGTACCGCCAGCAGGTTCTGGACATCGCTCTGAATGCTCTGGGCTATGCCGGGGTACTGTAAAGGGAGAAGGGAGGGAGAGAAGGTGGGAGTCACTTCTCTGGGCTAGCAGGGTGCCCGCCCCTACCCTGCCCAGCCTCCCCTCTCACCTGGATCTTCACGGCCACCTCCGTCCCGTCCCTCAGCAGGCCCTGGTGCACCTGCCCAATTGAGGCAGCGGCAAGGGCACCTCCTCCAAGGAGGCCACCTTGGCCTGCCAGTCCCTGCCGAGCTCCTCTTCAAGAACTCTCTGCGGGGAGTGGTCACAGCCATCATCATTGTGGCAGAGTTCATTCCCCAGGCTGAGTGCTTTACGTGTTGATAACCCCAGCACTCACCACATGCAGGGCCCTGGGCTAAGCTCTTGGCTGCCACCCCCTTTGCAGATGAGGAAACTGAGGCTCAGAGAGAGCTCCCTTGTGCAAGTGACTAGCCAGGCACTGGCAGACTGTGAGGCTCAGCCTAGCCTGTGTCCCCTGAACCTGGACTCCCTGGGCTGTTGTGGGGATTGCTATTATTTATAGTTAAGACTCATAACAATCCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGTTCTGTAGCCCAGGCTGGAGTGTAGTGGCACTCTCACGGCTCACTGCAGCATCAACCTCCCGAGCTCAAGCCATCCTCCTGCCTCCTGAATAGCTGGGACTACAGATATGTGCCACTGTGCCCAGCTAATTATTACTGTTATTATGTTTAGTAGAGACAAGGTCTCACTATGTTGCCCAGGGTGGTCTGGAAGTCCTGAGCTCAAATGATCCTCCCACCGCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTACACGTGGCCAACCATCCTTTATTATGCTCTTATATGTTATTATTAACTCACAGTTACTGTGATCAAGAAGAGCTAAAATTTACAATGGGCTTCCTGTGGGCCAGGTCCTATTCAGAGTGGCCCAGAGAGAGGCAGTACCTGCCTGGGGCCGCATGGCGAATAAGCAGAACAGGGATGGGAGAGCAGGTGGGTGGCGGAATCCTGGATTCCATGCCTTACCCAGTTATTAGAACAGCTCATGTCCTGGGCACTTACTTGGTGCCAGGCGCCGTGCCAACCTATTACAGACACGATCTCCTTTAATTAAAAAAACAGTAATAATCACAGCTAACACCTGCATGTTGCTCACAGTGAATCAGGGGCCGTTCTCAGTGCTCAGTGTAAACTGATTTATGTGACCCTATGATGTGGGTGTGGCTGTCACTATCGCCATTTCCCAGGGAAGGGAACTGAAGCACAGAGAGGTCAGGCTGCTGTTCCCTGTTTTAATCACCACAGCAATGCTAGGAGGTGTGTACTCTGGTGATTCCCATTTTACAGATGGGGAAAGTGAGGCTCAGAGGCAGGGAGTGGGGCAGTGAAGCCAGGAAGGTCAGGCAGGTCAGAGGAGATGGAGCCTGCCTCCCTCACCGCCCTCCCCCACTGGGCACTCACCAGCATCTGCCAGCGGGGCATGAAGTCGGCGCTCTGGCGGACCCGCTCAAAGATGTGCTGCAGCTGAGGGCTGATGAAGCTGTTGTCTTGGGAGACAGTGGAACCAGGGGGGAAGTAAGCGAAGAGGTGAGGAGGGACCCCGTGTGAGTATCTGAAGTTGGGGCCTGTTGGTGGGTAGGGCTGGGGTAGAAGGGAGGTCAGGGGTCAGGAGTCGAGGGTCATGCTGTACCCTGGATGCTGAGCATCTGGCCAACCTTGAGGGCGGCCCCTCGAACTGTACATAAGGTCTGCACAATCCGCTCGGCATTGGCCTCCGACAGGAAGGGGCTGGAGTCCAGCCCAGAACCACCCTCTGGGGAGAGAACAACCATTAGAATTATAACCACAAATATCATCACTGCGGCCAGGCCCGGCGGCCCACGCCTGTAATCCCAGCACTTTGGGAGACCCAGGCGGGATGAACACAGGAGTCTGAGACCAGTCTGGGCAACAGTGACATCCTTTCTCTATTAAAAAAAATATATATCATCTGCACACCAACAGGAATGGCTAAAACGAAATACGGAGGCCAGGCTTGTTGGCTCGCGCCTATAATCCCAACACTGGGAGGTCAATGCAGGAGGATGGCTTGAGTCAAGGAGTTCCAGACCAGCCTGGATAACAAAGCAAGACCCTGTCTCTAATTAGCTGGGTGTATGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGN
|
pathogenic
| 305,167 |
Variant chromosome 19, position 41342037, gene TGFB1 (transforming growth factor beta 1): benign or pathogenic? Disease(s)?
|
benign
|
GATGATCACTCTAAATTTACAACATTCTAACTCTCCATTTCAACTTTCTAGGAATCCAACATTTCAGCTTTCTTAGATTGCAGTATTAGCATTCCAGCATCTTATGATTCTAACATTCTGACAGCATCTTCAACTCTCTAGGATTCCCCCTTTCCAACCTTTGAGGATCTTGGCATTCCTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGG
|
GATGATCACTCTAAATTTACAACATTCTAACTCTCCATTTCAACTTTCTAGGAATCCAACATTTCAGCTTTCTTAGATTGCAGTATTAGCATTCCAGCATCTTATGATTCTAACATTCTGACAGCATCTTCAACTCTCTAGGATTCCCCCTTTCCAACCTTTGAGGATCTTGGCATTCCTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCGCGCCCAGCCTGCTGCCACTTTCTATTAATAAAATCCCAGCATTCTAATATTCTAACATTCCAACACTGAGTTCCAACATGCTGAGATACCAATATTCTGCTTTCTCCAACTCCAACATTTGTGGATGTGAATATTTCAAAACAGAATTCTACCACTGTGAGCCCAATATTCAAGGACTCCAATCTGCCAACACTGGTATCCACAATTGGCCAGTGGTGCAGGAATTCCACATGGGCCATCTTCCCATTTTGAATCCCCAAATTCTAGGATTCCAATGTTTCAGCTTTCCTTGAGTCCGACATTTTCCATTTCAGTAATTAACACCAAATTCTAGCATTCTAGAATCCCAGCATTCTAGAACCTCAACCTGCCAACAATTTAGGGATTCAAGATGGTGACCTTCCAACTTTGAATTCCAACAATCACAGGGTTCAACTTTCTAACATTCTGTGATTCCAACACTCCAGCAAGAAAGCAAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAGATACAAAAAATTAGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAATCAAGATAGCGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAACCTGATCCCAACATTACAAGACTCCCAGTTCTTTTTTTGTTTTTTGTGGCTGGGATTATAGGCGCCCACCACGCCTGGCTAATTTTTGGATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGACAGGTCTCAAACTCCTCACTTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCACCTGGCACAAGACTCCTGGTTCTTACACCCAGACCTCATCCCCTGAGCCCTCCAAGCTAAAGGAGACAGATGCTCAGCCCAAGCACAGCAGCAGCCAGGTGTCCAACCTGGAGCACCTGGTCAGCAGATGGCAGTCATGCCCCCAGCCTGGAAGGCCTCCATCCAGGCTACAAGGCTCACCTGAAGCAATAGTTGGTGTCCAGGGCTCGGCGGTGCCGGGAGCTTTGCAGATGCTGGGCCCTCTCCAGCGGGGTGGCCATGAGAAGCAGGAAAGGCCGGTTCATGCCATGAATGGTGGCCAGGTCACCTCGGCGGCCGGTAGTGAACCCTGCTTTGTGTGGGAGTCAGGGGATAGGGGACATACACACACACTCTCAGAGGGATAGATAAGTGGGGCGTGGGGCAGATGGGAACACACACACGCACACACGTCACAACTGGGCATGGCCGGGGAAGCAGGCCTCACCGTTGATGTCCACTTGCAGTGTGTTATCCCTGCTGTCACAGGAGCAGTGGGCGCTAAGGCGAAAGCCCTCAATTTCCCCTGTAGGAGTGGCGAGAGGGAAGCCAGTCTGAGAGTGCAGCTCACCCAGCCCCTGGAGGAAGAGGAAGGAAGGAGCAAACCCCAGGGGCTTCCTTCCTGCCTCCCCCACCCACCCCACTCTGCCCTCTCACTGCAGCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCGCAGCCTCAATCTCCAAGGCCCAAGCAATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCGTGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGTGATATCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATAACAGGCATGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCATCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCATCCGGCCTACACGGCTACTTTTTAAATTCTCTGTAGAGACAGAGGTCTCACTATGTTGCCCAGGCTGGGCTCAAGCAATCCTCCTGCCCTGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGCATCAATCTCTTGAATGAATGAGTGAATGATGTTTTCTAGGCTCCTACAATGTGCCGAAGCCTGTGCTGTGTGCTTGGGACTCAGCATTGACCAAGACAGATGAGCTCCTTCTAGGCCTTTGTCGAACAGCCCAGGACACTCCTCCCAGTGCCCACCTGCTCCCTAATCCCTATTTTTTCTTTTTCTTTTCTTTTTTTTTTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGAAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCATCACCACGCCGAGCTAATTATGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGATCTCAGGTGATCCACCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCCCCCTAATCCCTTTTTTTTCATGTGGCCAAACTACTATTTATCCTGTGAGTCTCCACACAATCACCCTCACCCAGCAAGCCCTCCTAGACTCCCCAGATGGGTCCAGGTGCCTTCTCTGGGCTCCCAACAGCACTTAGGGCGTTCCCCCATCCTGCATGCCTCCCTGTCCCAGCCTTGTCCTCCCTGCTGGTGCCTCCCCATCCCATTCTTGATCATTCTAGGTCATTCCTGCCTGGTGGGGCCTTGACAAGATCTCTTAGGTGTCCAGAAGTGACTGTGGGCCCCATGAGGGCAGAACTGAGGGCTGTCTTGGTTATCACTATGTCCCCCACACCACCCAGCACATGGCCAGGCACACAGCAGGAACCTGTGGGCAATTATTGAATAAAAGCATAAATGAGAGGGAGGTGAGGGAGAGAGATAGGGGCACCATGGGCCCTGCCAGAAACCAGACAGAGACAATCATCTCCTGGACAGATCAAATGAGTTAGTTAGGCTCTCCCTGGCCTCCAGGCCTTTGCACAGGCTGTTCCCTTTGCCTGGAATCTTTTTTTTTTTTTTTTTTTTGAGATGGGATCTCACTCTTTCATGTAGGCTGGATTGCAGTAGTGTGATTATGACTCACTGCAGCCTCGACCTCCCAGGCTCAGGN
|
benign
| 305,267 |
Mutation found at chromosome 19 position 41363582, gene B9D2 (B9 domain containing 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
benign
|
TCCCAGCACTTTGGAAGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGACATAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCTCAAAAAAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCAAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGACATAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAATAGCCGGGCATGGTGGCGAGCGCCTGTAGTCCCAGCTATGCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGAAGGCTGAGCTAGATTGCACCACTGCACTACAGCCTGGGAAACAGAACGAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGGACTAGGACTCAGGCCTGAAGACATGATAATGCCAAATGGCCACATCTGTTTCATAGACATTCATCTGTGCCACGCAACAACATACCCCAGGCTTTACAAACAAGACCCCATCAAAGTCTTGTATAAGCCAGGCAAACACTGAATGAGCACTTCCTATTCCAGCCCTATTCCTATTCTAAGTGCTGTTGATACTCGTTTAGTACTCATGACAACTTCAACAGGTAAATATTTCTATGACTCTCATTGTACAAACAAGGAAGTCGAGGTGAAGAGAAGTGCCCAAGTTCACATAATCAGCCCAAGGGTGCCTTAACAAGCAATAACTGGTTTTGAACCCAGGCAGTCTGTGCTCTTAACCTCAAACCTGTGCTGCTTCTTAGCTACTATTAGCTTCACTTTGAAACAAGGAAACTGAGGCTCAAAGTGGTCGAGTCCAAAGGTCTCCAATTAATAGGTGGGGGAGTTAATATTTAAATGCAGATCTGGCAGCCCATGACCCTAACCATTACACTATACCATGACTCTATAGGGCCTCAGTTGGGGAAGCATGAACAAAATTACTTTCCTGGGACGTGGCGGCTCACGTTTTTAATCCTAGCACTTTGAGAGGCTGAAGTGGGTGGCCTGTTTGAGCGCAGGAGTTCGAGACCAGCCTGGGCAACATAGCGAGACCCTGTCTCTACAAAAAATAAAAAAAATTAGCCAGATTTGGTGGTGCGTGTCTGTAGTCCCAGCTTCTCAGGAGGCTGAGGCGGGAGGATCACTAGAGCCCGAGAGTTCGAGGCTGCACTGAGCTATGATCACACCACCTTACTCCAGCCCGGGCGCAGAGAGAGACCCTGTCTGTATCCCACCCCTCACACACACAAAGATGGGAGCTTGAGACTCATGTGGACAGGGTGTGGGCTGGGCCTGGAGTACTGAGAACTGATGGAAATGAGGTTAAGAGTCTGCGTTAAGGGGTGGAGGAAGGAGCATGTAGCCTCTAGGCTAGGGGTCTTGGTGTGGAAATGAACCAGGCTTGGGGGAATACCTGTGTGAATGCCCCACTTGCAGAAGAGGCTACTTTCCGAGAAACCGCTGGCCCCTATGATCTGCCCGATCACGTGCACCTCAGCCATGGCCCTGGGAGGGGAAAAATATAATCACAACCCTGTGAGGTAAGTGTATTATCTCCATTTGACGGGGGGGAAACTGAGGCCCAGCAAGTAAAGGGTAGTACTAGGATTCCAAGCTAGCTTCGTCACACCCCTGAGGCTGAGGTCTTGACCACAGATCCTAATTGCCAACCCATGAAAGCCTGGAAAAAATGGGGGGACCCTTGTCTGGGGAACCAGCATTTAACTCTGGGAAGTCCAAAATAACCTTTTCGGGTTCAGGTCGGCGGAAAGCCCCGCCCGAAGGGGCTATGGCTCCGCCCACGAGCGCAAAAGACCCGCCTTCCGCGTCACGCCAGCCACCCCGCTTCCCTCCCCCAGCAAGCTCCATAAGGCGCATGCGTTATGAGTTCAGGTCCGACTTAACCCCGCCTCTAAGCGCAGCGCATGCGTCATTCCTACCTTAGCGCACTTAACGGTTAGGAGAGGAGAAAGCGGCAACCGGGGTTGTAGTTCATGGGCTTGACTGCTTCTTTTCTCCGCGGGCGCCGACCAGGCCTGGCTCGCGCCTCTCCCAGGACCCGCCTGGCTGCGAGATATGTAAGCCGCGATACTTCCGCGACCGCGCTCGTCTTGGTTTCCGTGGTTGTTGCTGGGGCAACAGCAGGCTCCTCCCCTAGCTTTGTACTCGCTCTGCGCGCTACTAATTGGTGCTAGCCGTCTGCGGGGGGCGGGGTGAAGCTGTGATGGACATTTTCCTCCTCCGCTCCATTTTGGGAAAATAGCGTCTCTCCAGCTACGGCAAAGGGTTCCGCCATTTTGGGCGTGGCTAGGAAGCTGCCATGTTGAGTGTGGCTGAGGAAGTTTGAGTGCAGTTTCTCCCAGATACCTTCTTTACCAAAAAAGCAAATCCCTAACTGCTCCGTGCTGCGCCTACCCCACCGAAGAGCTCTCTGTGGTCCGGGATCACAAATCAGAGATTGAACCAGGACCAAGGGGGAATTCCTTCCAGGACCTCGTGTACATCCCCGGCCTTGTAACTGGAAAACAAAGCAAAAAAATCACTCCTCATTCAGAGAGTGGAGAAGTTGGGGAGTGGGTTCTGCTTCCGTTTTAGAGTTCCCCTAGGTTTCTCAAGGACAAGGAAGGAAGGAAGTTGGATAAGTCCAACTTCCTTCTCGGAGCTACTACCAAGTTCACTGTTACTGCTTGATTCTGAGCAAGGAGCGGTTGGGGTAGCGAAGAGAAATGAGGAACTAAGATTCCCTTATTTGCAGAAAATCCTCTTTCCTATTGATTGATTTATCAATCAAGAAATGGAGATGTTGTCCCTGGATGCCATCCTAGATGCCATCATTTCCCACATCAAGCCAGTCATCAGGTCCCATCAAGGCTCCTTAAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTACGGTGGCTCGATCACAGCTCATTGCAGCCTCTTAACTCCTGGGTTCAAGGGATCCTCCTACCTCAGCCTCCCATGTAGCTGGTATCACAGACATGCACCACCACGGCTGGCTAATTCTTTTTTTTTTTTTTAAGAGATGGAGTCCTGCTATGTTGCTATGTTGCCCAGTCTTGTCTTGACCTCCTGGGCTCTAGCTATCCTCCCAGTTCTCCCTCCCAAACTGCCGGGATTACAGGCGTGAGCCACCCAGCCAGGCCAATAGATACAAAGTATTTACAAGCTACCATTGGCTAGGCGCGGTGGCTCATAACTGTAATCCCAGCCCTTTGGAAGGCTGAGGCGGGAAGAGCTCTTGAGGCCAGAAGTTCGAATATAGGGAGACCCCATTAATAATGCATATATCAACTAGTGAAGTATTCCATTGAATTGTTTAATATAAATGTTATCCTATTGAAATGTTGTACCCTCGTTATAATTTTGGTTTTTTACTTTTTGAGATGGCGTCTCCCCCTGTCATCCAGGCTGGAGTGCAGTGGTGCGATCCCAGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATATTGGCCAGACCGGTCTCAAACT
|
TCCCAGCACTTTGGAAGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCGAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGACATAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCTCAAAAAAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCAAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGACATAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAATAGCCGGGCATGGTGGCGAGCGCCTGTAGTCCCAGCTATGCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGAAGGCTGAGCTAGATTGCACCACTGCACTACAGCCTGGGAAACAGAACGAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGGACTAGGACTCAGGCCTGAAGACATGATAATGCCAAATGGCCACATCTGTTTCATAGACATTCATCTGTGCCACGCAACAACATACCCCAGGCTTTACAAACAAGACCCCATCAAAGTCTTGTATAAGCCAGGCAAACACTGAATGAGCACTTCCTATTCCAGCCCTATTCCTATTCTAAGTGCTGTTGATACTCGTTTAGTACTCATGACAACTTCAACAGGTAAATATTTCTATGACTCTCATTGTACAAACAAGGAAGTCGAGGTGAAGAGAAGTGCCCAAGTTCACATAATCAGCCCAAGGGTGCCTTAACAAGCAATAACTGGTTTTGAACCCAGGCAGTCTGTGCTCTTAACCTCAAACCTGTGCTGCTTCTTAGCTACTATTAGCTTCACTTTGAAACAAGGAAACTGAGGCTCAAAGTGGTCGAGTCCAAAGGTCTCCAATTAATAGGTGGGGGAGTTAATATTTAAATGCAGATCTGGCAGCCCATGACCCTAACCATTACACTATACCATGACTCTATAGGGCCTCAGTTGGGGAAGCATGAACAAAATTACTTTCCTGGGACGTGGCGGCTCACGTTTTTAATCCTAGCACTTTGAGAGGCTGAAGTGGGTGGCCTGTTTGAGCGCAGGAGTTCGAGACCAGCCTGGGCAACATAGCGAGACCCTGTCTCTACAAAAAATAAAAAAAATTAGCCAGATTTGGTGGTGCGTGTCTGTAGTCCCAGCTTCTCAGGAGGCTGAGGCGGGAGGATCACTAGAGCCCGAGAGTTCGAGGCTGCACTGAGCTATGATCACACCACCTTACTCCAGCCCGGGCGCAGAGAGAGACCCTGTCTGTATCCCACCCCTCACACACACAAAGATGGGAGCTTGAGACTCATGTGGACAGGGTGTGGGCTGGGCCTGGAGTACTGAGAACTGATGGAAATGAGGTTAAGAGTCTGCGTTAAGGGGTGGAGGAAGGAGCATGTAGCCTCTAGGCTAGGGGTCTTGGTGTGGAAATGAACCAGGCTTGGGGGAATACCTGTGTGAATGCCCCACTTGCAGAAGAGGCTACTTTCCGAGAAACCGCTGGCCCCTATGATCTGCCCGATCACGTGCACCTCAGCCATGGCCCTGGGAGGGGAAAAATATAATCACAACCCTGTGAGGTAAGTGTATTATCTCCATTTGACAGGGGGGGAAACTGAGGCCCAGCAAGTAAAGGGTAGTACTAGGATTCCAAGCTAGCTTCGTCACACCCCTGAGGCTGAGGTCTTGACCACAGATCCTAATTGCCAACCCATGAAAGCCTGGAAAAAATGGGGGGACCCTTGTCTGGGGAACCAGCATTTAACTCTGGGAAGTCCAAAATAACCTTTTCGGGTTCAGGTCGGCGGAAAGCCCCGCCCGAAGGGGCTATGGCTCCGCCCACGAGCGCAAAAGACCCGCCTTCCGCGTCACGCCAGCCACCCCGCTTCCCTCCCCCAGCAAGCTCCATAAGGCGCATGCGTTATGAGTTCAGGTCCGACTTAACCCCGCCTCTAAGCGCAGCGCATGCGTCATTCCTACCTTAGCGCACTTAACGGTTAGGAGAGGAGAAAGCGGCAACCGGGGTTGTAGTTCATGGGCTTGACTGCTTCTTTTCTCCGCGGGCGCCGACCAGGCCTGGCTCGCGCCTCTCCCAGGACCCGCCTGGCTGCGAGATATGTAAGCCGCGATACTTCCGCGACCGCGCTCGTCTTGGTTTCCGTGGTTGTTGCTGGGGCAACAGCAGGCTCCTCCCCTAGCTTTGTACTCGCTCTGCGCGCTACTAATTGGTGCTAGCCGTCTGCGGGGGGCGGGGTGAAGCTGTGATGGACATTTTCCTCCTCCGCTCCATTTTGGGAAAATAGCGTCTCTCCAGCTACGGCAAAGGGTTCCGCCATTTTGGGCGTGGCTAGGAAGCTGCCATGTTGAGTGTGGCTGAGGAAGTTTGAGTGCAGTTTCTCCCAGATACCTTCTTTACCAAAAAAGCAAATCCCTAACTGCTCCGTGCTGCGCCTACCCCACCGAAGAGCTCTCTGTGGTCCGGGATCACAAATCAGAGATTGAACCAGGACCAAGGGGGAATTCCTTCCAGGACCTCGTGTACATCCCCGGCCTTGTAACTGGAAAACAAAGCAAAAAAATCACTCCTCATTCAGAGAGTGGAGAAGTTGGGGAGTGGGTTCTGCTTCCGTTTTAGAGTTCCCCTAGGTTTCTCAAGGACAAGGAAGGAAGGAAGTTGGATAAGTCCAACTTCCTTCTCGGAGCTACTACCAAGTTCACTGTTACTGCTTGATTCTGAGCAAGGAGCGGTTGGGGTAGCGAAGAGAAATGAGGAACTAAGATTCCCTTATTTGCAGAAAATCCTCTTTCCTATTGATTGATTTATCAATCAAGAAATGGAGATGTTGTCCCTGGATGCCATCCTAGATGCCATCATTTCCCACATCAAGCCAGTCATCAGGTCCCATCAAGGCTCCTTAAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTACGGTGGCTCGATCACAGCTCATTGCAGCCTCTTAACTCCTGGGTTCAAGGGATCCTCCTACCTCAGCCTCCCATGTAGCTGGTATCACAGACATGCACCACCACGGCTGGCTAATTCTTTTTTTTTTTTTTAAGAGATGGAGTCCTGCTATGTTGCTATGTTGCCCAGTCTTGTCTTGACCTCCTGGGCTCTAGCTATCCTCCCAGTTCTCCCTCCCAAACTGCCGGGATTACAGGCGTGAGCCACCCAGCCAGGCCAATAGATACAAAGTATTTACAAGCTACCATTGGCTAGGCGCGGTGGCTCATAACTGTAATCCCAGCCCTTTGGAAGGCTGAGGCGGGAAGAGCTCTTGAGGCCAGAAGTTCGAATATAGGGAGACCCCATTAATAATGCATATATCAACTAGTGAAGTATTCCATTGAATTGTTTAATATAAATGTTATCCTATTGAAATGTTGTACCCTCGTTATAATTTTGGTTTTTTACTTTTTGAGATGGCGTCTCCCCCTGTCATCCAGGCTGGAGTGCAGTGGTGCGATCCCAGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATATTGGCCAGACCGGTCTCAAAC
|
benign
| 305,296 |
Is the genetic mutation found on chromosome 19 at position 41397840, within the gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Maple_syrup_urine_disease']
|
ACTCACTTCGTTCAGGCAATAGCCTGAAATACCATCTATATAGCCAGAGAGTTCCAAATTGCCTATGTCCAGCTTGGGTCTCTCTTCTGATTTCCAGACTTGTACAGATCTGGGCAGAAACCTTAGTTATGCCTGAATCTTTTTCCTCGCACTCAAACCAAACTATACGTAAGTTTTGTCCGTATTACTTTCAAACTACATCCAGAATCTCATCACCTCCACTACTCCTGCTCTGGCTGGAGCCACCATCACCTCCCTGTTTTCCCCCATACTCCCCACAATCAACACAGCAGCCAAATTTTGTTAAAATGTATTGGGGCTGGGCGTGGTGGCTCATACCTGTATGAGCACTTTGGGAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAACCTGGGTGACATCGTGAGACGCTGTCTCAATTTTTTTTTTTTTTGAGACAGAGTCTTGCTTTGTCGCTCACGCTGGAGTACAATGGCACGATCTCGGCCCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCACAGGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGCGTGAGCCACCGCCCCCGGCCTCCCGTCTCAAACGTTAAAGAGAAATATTCTTGGAGTTAATCTACTTCTGAGAGTTATTTAGCTAGGAAAAGGGGATATTTGCTCTATAGGTAAGACTTGCCCTAATCTTTTTTTTTTTTTTTTTTTTGACTTGCCCTAATCTTAGGGATATTTACTTGTGTGGAGAGATGCAGTGAGGTAGCGGTGGGGATGTATTTCTCAACCCAGCGCAATGACATTATCTTCAATTTGAGGAGTATTTACGTGGGTGAAAGATCCGCCACAGTCCACAGTATGCAAATAGACAGGTTTGCTTCAGTCCGGGATGCAAGGACCTAGAGGGTGTGTGTGTGGGGGGTGGGGGTGGGAGGGTGGAGGAGGAATCGAGTTAAGGGGGATATTTACCCTGGCGAGGTGATTTTCCCTATTCTGAAATATCAATTCTTGGGCGGACAGTCTGCCCCTCCTCTCATTCTCAGAGATAGTTACAAAGATGGAACTATCTTCTCCTTTCTAGTCGTGAGGGAGAGATGTGTGTATCCCTGCGTATTTAGTAGTATTCAATCGGACAAGAAATCATGCATCAACGCAGGAGTGACATTTACCAGCTGGTATCGTGAGGAGGTGGGCACTCGGTTGCACAGTACACGGTAGTCCCTCTCCAAAAGAAAGACCTGGGTGAAGTTCTTACCTTGCAGGAAGGAAGCAGAGCCATCTGGCCGCGACAGCAGGTTCTGTTCGCAGGCAAAGTGCCGGAGGCTGCAGCCAGGACCCCGAGGGCTGGACCCTGTTCCATTTTCAGCACGGATTTTGGCGTCAGTATGCGTCTCCTCCTCCATCGCGCCGAGCCCACGTGCGGCTGCAGTTGTCACTTCCGCCTGGCAGCGCGCGCCGCAAACAGGCTGCGTAACCAGTGCGCACGCGCCGGGCTGGGCCATCCTCCTGGGCGTCCGCACGTGGCTTAGCGTTTACCAACAATCTGGCTCCGCCCAGTCCCACCTCCTAACTCTGGCAACGCCATTGGACATTTGGGAACAGAAGGCAGGCCTTGGCATTGATCCGCTTTACTCTGGGCCCCCGGGCCCTAAATCCCTGAGGCCCTGGTCAGGTTGCCCTCTTCTTTGCCTGTTACAGGAGTAACTACAATGAGGCGATTGGAGAAAATTTTGGGTAGATAGATTTTTTTTTCTCCAAATCTCTGTGCATTCTATCTACCACAGAACGGGAAGAAGATGGTTTTCTTGTCAGATGGTGCTGGAGTTTGCGTCAGGCACATAAAGAGGCAGCCCCGAATCTAGCCTACGTGAGTGCCGGACCGCTGAGTGGTTGTTAGCCAAGATGGCGGTAGCGATCGCTGCAGCGAGGGTCTGGCGGCTAAACCGTGGTTTGAGCCAGGCTGCCCTCCTGCTGCTGCGGCAGCCTGGGGCTCGGGGACTGGCTAGATCTGTGAGTACCTGGGCCCCAGGCGGTTTTCCCAAAGGGGATTAGGGATGTAAAGGCTATCTTCAGAGTGTGGGGTCCCTGAAGGATATGAAGGAAGGGCTGTCACAAAAGGGAAAAAGAGTGGGAGACTCCTTGGAGAAGACACCGAAGGGAAGATCTGCCACTTCCTTAGGAGACGAAAAGAACTTCCACTTCTTTAGGAGAGGAAAAAACCCGTTTGCAACTTCTTTGTGGGCCCTGAGGGAGACGACTTGAAGAGAGAGATGGGGGTTCCTTATTAGCTGCCACTGGTATTCAGGGGAGGCTCCTTGGAGGAACAGGGGAAGACCGCAAGACCTTCTCCCTCAGGGTTTGGAGAATGAAACTGACTTTGTAAGGGAGGGACTTTCTTCTGGGCAAAGATCCCTCTTCAAGAAGAAGAAAGAAGAGAACAGGTCCCTGTCACAGGCTGCATAGGGCCTTGTATTTCTTTGCTCCTTTGCCACAATTCTGATTTTAAAATGAATTGTGTAAAAAATTTGTTTGATTCCTGTGTCTCTTGATCGAATATCAAGACAGAGAATTCGTGTGTTCTGGACACTGTACAGAGGAGACGATTAATATTTGTTGAATTAATGAGGGGAAAAAAGGAGGGAGAGAGGTACAGACAGGGCACTTTGCCCACATTTCTTAGAAACACTTGAGAAGGCTTTGTTTCTTGTCAAAAGGGTCACAATCCCTTCAGGTGGATGCTGCTAAGGGCAAGATTACACTGCAAAAAACCTAGGTGGAAGCCTATCTTTAGACGGGGAGAGGCAATGGGTTGCAGAAGAGCTTTGAACTACAGTTGACAGATAGGAGAGTAGTGGTTACATGGGTGGATGCATGTCCTTGCTCTGCCGCTTTCCACTTGTGTAGCCTTGGCCAACGGACTGCACTTCTCTGGATCTATGGAGCTAATTTTCCTCTCTAAAATATTAACAGTGGCCACCTCATAGGGCTGTGAAAAATCAATATGTAAAATGCTAAGGACTGGACCTGGCACATCCTAAGGGCAATAGGAATGTTGATAGTGAGGGTGGAGGGAAGGGACAGAAACTAACCTTGGAGATGGGGAGAAGAAAGGGGTGACCTTGGGAAGGCCTGGATTGGTGAGGCCCTGGGGAAAAAAATCTGAAAAGATATTGTGAGGTTGAGTCTGATCCTCTGATCCCCAATCCATAAGGAGGGGAAGATGGAATCTGTAGAAAGAAGCTCTGGGTAGGGGAACAAACGGGAGGAGGGTGAAGAAGATGGGCCAGGAGTAGGACGTAGTAGGTATCTAGGAACGGAGTCACTTGAAACAGGTAAATACAGAAGGGCTGCAGGAGCAAGGTGTGGGTAGGGCAGTCTCTTGCCTTTGGGCTGGAGACCTTTTCACTTTTTTTTTTTTTTTTTTTTTTGAGCAGTTCATATCCTCCACAGCTGATCTCAGTCCCAGGGGCCCATTGGCTGGGCAAGTGGGGCAGGAGGTGGGCAGGACTGGGGCAGGCTAGGGAAAGGTCATTTATGGCTGATTAAATCTTTCTCTCCTGTCTCAATCTCTTGATTACCTTTCCTCTTGCTTCCCCTACTTCATTTTTGGTGGGGAGTGGGGAGGGAAGAAGTCCCTACTTTTTATTTATATATATTTAAATTTGTATTATCTTAAGAGTTATTGTTTTTTCCCCTTTATTTCTCCCACCTGTTCTTTCTCTCTTCTTCTTTCTTTCCTCTCCTTCTCCTCTCCTCTCCTCCCCTCTCCTTTTTCTTTTCTTTTCTTTTTCCCTTTCCTTTCCTTTCCTTTTCTCTTCTCTTTTCTCTCTCTCTTTCTTTCTGTACCTCTCTTTCCTTTTTCTTTTTTTTTCTTTTTTGAGACAGAGTTTCACTCTCTCGCCTAGGCTGGAGTGCAGCAGCATGATCTTGACTTACTGCAATCTCTGCCTGCCGAGTTCAAG
|
ACTCACTTCGTTCAGGCAATAGCCTGAAATACCATCTATATAGCCAGAGAGTTCCAAATTGCCTATGTCCAGCTTGGGTCTCTCTTCTGATTTCCAGACTTGTACAGATCTGGGCAGAAACCTTAGTTATGCCTGAATCTTTTTCCTCGCACTCAAACCAAACTATACGTAAGTTTTGTCCGTATTACTTTCAAACTACATCCAGAATCTCATCACCTCCACTACTCCTGCTCTGGCTGGAGCCACCATCACCTCCCTGTTTTCCCCCATACTCCCCACAATCAACACAGCAGCCAAATTTTGTTAAAATGTATTGGGGCTGGGCGTGGTGGCTCATACCTGTATGAGCACTTTGGGAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAACCTGGGTGACATCGTGAGACGCTGTCTCAATTTTTTTTTTTTTTGAGACAGAGTCTTGCTTTGTCGCTCACGCTGGAGTACAATGGCACGATCTCGGCCCACTGCAACTTCTGCCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAGCCACAGGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGCGTGAGCCACCGCCCCCGGCCTCCCGTCTCAAACGTTAAAGAGAAATATTCTTGGAGTTAATCTACTTCTGAGAGTTATTTAGCTAGGAAAAGGGGATATTTGCTCTATAGGTAAGACTTGCCCTAATCTTTTTTTTTTTTTTTTTTTTGACTTGCCCTAATCTTAGGGATATTTACTTGTGTGGAGAGATGCAGTGAGGTAGCGGTGGGGATGTATTTCTCAACCCAGCGCAATGACATTATCTTCAATTTGAGGAGTATTTACGTGGGTGAAAGATCCGCCACAGTCCACAGTATGCAAATAGACAGGTTTGCTTCAGTCCGGGATGCAAGGACCTAGAGGGTGTGTGTGTGGGGGGTGGGGGTGGGAGGGTGGAGGAGGAATCGAGTTAAGGGGGATATTTACCCTGGCGAGGTGATTTTCCCTATTCTGAAATATCAATTCTTGGGCGGACAGTCTGCCCCTCCTCTCATTCTCAGAGATAGTTACAAAGATGGAACTATCTTCTCCTTTCTAGTCGTGAGGGAGAGATGTGTGTATCCCTGCGTATTTAGTAGTATTCAATCGGACAAGAAATCATGCATCAACGCAGGAGTGACATTTACCAGCTGGTATCGTGAGGAGGTGGGCACTCGGTTGCACAGTACACGGTAGTCCCTCTCCAAAAGAAAGACCTGGGTGAAGTTCTTACCTTGCAGGAAGGAAGCAGAGCCATCTGGCCGCGACAGCAGGTTCTGTTCGCAGGCAAAGTGCCGGAGGCTGCAGCCAGGACCCCGAGGGCTGGACCCTGTTCCATTTTCAGCACGGATTTTGGCGTCAGTATGCGTCTCCTCCTCCATCGCGCCGAGCCCACGTGCGGCTGCAGTTGTCACTTCCGCCTGGCAGCGCGCGCCGCAAACAGGCTGCGTAACCAGTGCGCACGCGCCGGGCTGGGCCATCCTCCTGGGCGTCCGCACGTGGCTTAGCGTTTACCAACAATCTGGCTCCGCCCAGTCCCACCTCCTAACTCTGGCAACGCCATTGGACATTTGGGAACAGAAGGCAGGCCTTGGCATTGATCCGCTTTACTCTGGGCCCCCGGGCCCTAAATCCCTGAGGCCCTGGTCAGGTTGCCCTCTTCTTTGCCTGTTACAGGAGTAACTACAATGAGGCGATTGGAGAAAATTTTGGGTAGATAGATTTTTTTTTCTCCAAATCTCTGTGCATTCTATCTACCACAGAACGGGAAGAAGATGGTTTTCTTGTCAGATGGTGCTGGAGTTTGCGTCAGGCACATAAAGAGGCAGCCCCGAATCTAGCCTACGTGAGTGCCGGACCGCTGAGTGGTTGTTAGCCAAGATGGCGGTAGCGACGCTGCAGCGAGGGTCTGGCGGCTAAACCGTGGTTTGAGCCAGGCTGCCCTCCTGCTGCTGCGGCAGCCTGGGGCTCGGGGACTGGCTAGATCTGTGAGTACCTGGGCCCCAGGCGGTTTTCCCAAAGGGGATTAGGGATGTAAAGGCTATCTTCAGAGTGTGGGGTCCCTGAAGGATATGAAGGAAGGGCTGTCACAAAAGGGAAAAAGAGTGGGAGACTCCTTGGAGAAGACACCGAAGGGAAGATCTGCCACTTCCTTAGGAGACGAAAAGAACTTCCACTTCTTTAGGAGAGGAAAAAACCCGTTTGCAACTTCTTTGTGGGCCCTGAGGGAGACGACTTGAAGAGAGAGATGGGGGTTCCTTATTAGCTGCCACTGGTATTCAGGGGAGGCTCCTTGGAGGAACAGGGGAAGACCGCAAGACCTTCTCCCTCAGGGTTTGGAGAATGAAACTGACTTTGTAAGGGAGGGACTTTCTTCTGGGCAAAGATCCCTCTTCAAGAAGAAGAAAGAAGAGAACAGGTCCCTGTCACAGGCTGCATAGGGCCTTGTATTTCTTTGCTCCTTTGCCACAATTCTGATTTTAAAATGAATTGTGTAAAAAATTTGTTTGATTCCTGTGTCTCTTGATCGAATATCAAGACAGAGAATTCGTGTGTTCTGGACACTGTACAGAGGAGACGATTAATATTTGTTGAATTAATGAGGGGAAAAAAGGAGGGAGAGAGGTACAGACAGGGCACTTTGCCCACATTTCTTAGAAACACTTGAGAAGGCTTTGTTTCTTGTCAAAAGGGTCACAATCCCTTCAGGTGGATGCTGCTAAGGGCAAGATTACACTGCAAAAAACCTAGGTGGAAGCCTATCTTTAGACGGGGAGAGGCAATGGGTTGCAGAAGAGCTTTGAACTACAGTTGACAGATAGGAGAGTAGTGGTTACATGGGTGGATGCATGTCCTTGCTCTGCCGCTTTCCACTTGTGTAGCCTTGGCCAACGGACTGCACTTCTCTGGATCTATGGAGCTAATTTTCCTCTCTAAAATATTAACAGTGGCCACCTCATAGGGCTGTGAAAAATCAATATGTAAAATGCTAAGGACTGGACCTGGCACATCCTAAGGGCAATAGGAATGTTGATAGTGAGGGTGGAGGGAAGGGACAGAAACTAACCTTGGAGATGGGGAGAAGAAAGGGGTGACCTTGGGAAGGCCTGGATTGGTGAGGCCCTGGGGAAAAAAATCTGAAAAGATATTGTGAGGTTGAGTCTGATCCTCTGATCCCCAATCCATAAGGAGGGGAAGATGGAATCTGTAGAAAGAAGCTCTGGGTAGGGGAACAAACGGGAGGAGGGTGAAGAAGATGGGCCAGGAGTAGGACGTAGTAGGTATCTAGGAACGGAGTCACTTGAAACAGGTAAATACAGAAGGGCTGCAGGAGCAAGGTGTGGGTAGGGCAGTCTCTTGCCTTTGGGCTGGAGACCTTTTCACTTTTTTTTTTTTTTTTTTTTTTGAGCAGTTCATATCCTCCACAGCTGATCTCAGTCCCAGGGGCCCATTGGCTGGGCAAGTGGGGCAGGAGGTGGGCAGGACTGGGGCAGGCTAGGGAAAGGTCATTTATGGCTGATTAAATCTTTCTCTCCTGTCTCAATCTCTTGATTACCTTTCCTCTTGCTTCCCCTACTTCATTTTTGGTGGGGAGTGGGGAGGGAAGAAGTCCCTACTTTTTATTTATATATATTTAAATTTGTATTATCTTAAGAGTTATTGTTTTTTCCCCTTTATTTCTCCCACCTGTTCTTTCTCTCTTCTTCTTTCTTTCCTCTCCTTCTCCTCTCCTCTCCTCCCCTCTCCTTTTTCTTTTCTTTTCTTTTTCCCTTTCCTTTCCTTTCCTTTTCTCTTCTCTTTTCTCTCTCTCTTTCTTTCTGTACCTCTCTTTCCTTTTTCTTTTTTTTTCTTTTTTGAGACAGAGTTTCACTCTCTCGCCTAGGCTGGAGTGCAGCAGCATGATCTTGACTTACTGCAATCTCTGCCTGCCGAGTTCAAGN
|
pathogenic
| 305,306 |
Gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) variant at chromosome 19, position 41410638—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Inborn_genetic_diseases', 'Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTAC
|
GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTA
|
pathogenic
| 305,314 |
Does the variant on chromosome 19 at location 41410638 affecting gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Maple_syrup_urine_disease']
|
GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTAC
|
GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCT
|
pathogenic
| 305,315 |
The mutation in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) at chromosome 19, position 41410638—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTAC
|
GTCCTTGCAGGACTCCTCCAGCCCCTCTGAGCTTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACN
|
pathogenic
| 305,316 |
Is the genetic change at chromosome 19, position 41410670, within gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
TTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTA
|
TTTTTTTTTTGTTTGAGACAGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTAN
|
pathogenic
| 305,323 |
Evaluate if the mutation on chromosome 19 at position 41410689 in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
AGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACC
|
AGCATGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTTACTGCAGCCTCCACCTCCTGGGGTCAAGCGATTCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTATAGGTGTATGTTACCATGCTTGAGTAATTTTTAAAATTTTTTGTAGAGATGTGATCTCAGGCTGGTCTTGAACTCCTGGGCTCACCTGGGCTCAAGTAATCCTTGAGCCCAAAGTGTTGGGATTACAGATATGAGCCACCTTGCCAGGCCCTGAGCTCCTTCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGTTCTATACACCTTGCCGAGAATGTGCTTTCCCTGCCTCCTGGTTATCCCTCAGGTTTCAGCTCTAACATCACTTCCCCAGGGAAGCCTTACCCTCGCTTTCTTCTGCTATAGGATAATATGAACCACCATCATTGTTACTTGTTTAGTGTCTGCCCTCCCTGCTAGGCAGCAAGGACAGATATCTTGCCTGTCTTAGGTCCCCAGAACCCAGCACAGGGCTTGGAACATGTCAGGTGCTCAAATATTTGTTGAATGAGTCAGTCTGGGCTCGCAGAGGGAGCTGGGACCAGAGTAGAGTGGACACTGAAGCGTATGTAGCAGTTTGCCAGGCGATAGGGAAAGAGACCTTCTTGTAAAGCAAGCAGAGATGAGAGGGAGAAATGAGAATTGCTAAGATTGTTTTGAGCATTTGTTAGGTGGCTTACAGATGCTTTGCTGAACATTTTATTCATGTGATCTTGTTTAAGCCTCTCATTTCCATGAGGGGTTCTCCATTTTTATAGACAAGGAAGGGGACACGTGGAGAGGGGAAGTTACTTTGCCATATCACCCTCTAAGGGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCACCAGGCTAGAGTGCTATGGCGCAATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACATCCGGCTAATTTTTCTATTTTTAGTGGGTACAGGGTTTCGCCATGTTGGCCACATTGATCTCGAACTCCTGACCTCAAGTGAGATTCGCCTGCCTCTGCCTCCTAAAGGCAGTAAGGGAATTGAACCTAGGCAGTCTGACTCTTAAGAGCTCAAAGACTTAAGCTCTGTCCTGAGTAGCTTCGCTGGTGTATGGTATAGGGATCAGAAGAGAGCTGGTCTGTATGCCTAGAGGGCATCCTGCAGTGGGCATGTGTGTCTGTGGTCACAGTGGGAGAGAGAGAGGAGGGGGCATCTGTGGCCAGAATGGGGAGGCCTCGAATGCCAGGATGAAGAGTTTGGGCCTATGGTAATGAGAATAGTAATAGCTACCAGTTATTGACTTGCCAGCCACTTGATTGAGTCATTTAACCTCACAACAGTCCTATGGGATAGGTGTTAACTGTTTTCATCCCAGTTTTTCAGATGGGGAAACTGAGACACAGAAGTTGTAGTCAGTTATCCAAAGTGTCGCAGTGAGAAAGTGCTGGAGTTGGGGCTCAGACCCTGTGAGTCAGGCCCCAGAGTTCACTGGGGCCACATGCTCAACCACCATGCCGCCTGCCTGCCGCCGGGGCTGAGCCAGCGGAAACCTGGGTGCTGCTTCTGATGCAGGTGGTCTCCTCTGCTCTCTTCCCCAGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGCCCAGGCCCCTTGCCTGTCTCCTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAATTACCTGAGGTCCCCTACCTGTGTTTGGGCCAAAGGAATGGCTCCCAAGGAGGACAGATTCTTTTTTGGGGGGGTTCCATAGAGTTCTGAGGGTTCTCTTGGGACTCTGGAGGAGAAGTGTGAGAGCAGTCCTGCCTTAGGGCAGAAGGATGGACCTGATCACTAAAAAACACCTACTGTGTGCCTGGCTGGGGGCTCGCCTGTGTGGGGAGAGGGCAGGGAGAAGGCCTGACAGCCCTTCCTCTTGGAAATGCACAGTCCTGAGAAACAGGGTGGGTCCCCAGTGCTTCCTGGAGTGCTCCAGGGGACCGCCCTAGGCCCATGTGAAATGGGCTGTGATCCCCTGATAAATCCTAGTATCAGGGACAAGGATCCAGTCAAGCCAGTGTCAACAAAGAGGGAAGTTATTGACTCCAATGACCATACATCCAGAGGGTCCTGTTTTGGGGCACAGCTAGATCCAGGGGGTCTTCCAGGCAGGAAGTAGAGGGAAGGCGGAAGGCCAGACATGGCACATCCCAGCTATCCCACACCCCCACCTTTATAGAGCTTTCTGGGTAGTCCCACCTAGTGACATCTGCATACATTTCCTGGGCCACTCCTAGCTGCAGGGGAGACTGAGAAATGTATTAATAATACTTTAGTCCCGGCAGTTGCTGCCTGCGGGAGATTGAGACCTCTGTTAACAGAGGAGGGGAATAGTATACTGGGAAGGCAACCAGGAGCCTCTGCCAGTAGCCCCGAGTCCTGATCCTCAGGGGGCTGGTTGCAGGCTCTTACCCACGCTAACCTGGACAGTCCTGCCAGGCCCTCAGTACTCAGCACCGCCCACTCACTTGGCACTGGAATGTGCATTAACTTTTAATTGGCTCCCCACTTAGAAGAAAGCACACATTCATCAGTTTCCCCCACAGCAACGGGAAAGCCAGGCCTGGGAACACATGGAGGAGGGCACCGCCGAGCCGCGAGGAGCTCTGGCCCCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCN
|
pathogenic
| 305,324 |
Evaluate the clinical significance of the mutation at chromosome 19, position 41414074 in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
CCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGATACATCTTTAGGAAGTGCTCAGCTGCTCAGCAGCACACTCTGAGACCCAGCCCCATCCTTTCTCTGCTTCACTGTTGTTGGTGAGTTGACCTTCGTGCTCTGCTTGTGGCCTCGTGTTCACAGCATGGCTGCTGCATGTCCAAGCTTCATGGCTGTCTGCAAGGCAGGAAGAAGTAGGGAGTGGGTAGGGCTGGCACCAGCAGCAGTGGTCTCTTCTATCCAGAAAGCAAAAGCAGACTTCCACCAAAATATCTGGCTAAAACTGTGTCCCATGGCCACCTCTGGCTGCAAGGGAGGCCAGGGACCTGAGTGCGTGTCTTTTTGAGGCTCAGGTTAGGGGATTTGGGAGAAGGGAACTGGGCACTGGTGTGGCCAGCTGACAGGGTCTGCTGCCCCCTAGCACAGCCGACTCAGCTTCCTCAGACACATCCACCTGCTCCTCTCCCGCCTCCCTCTGCTACCAAGCTGGGCCTCTGCCCCCTCTCTCCTGGCTTGCTGCAATCAGCCTTGATGACTCCATCCATTTACCTCACTGCAGCCTGAGAGCAATTCTAAAACACAGGTCTGACCACATTGCTCCCTTGAGAAGACTGTCGGCAGGTTACCACTATTCTCAGAGTAAAATCAATGTATCGTTCCCTTTGTTATCTGGGTGCCATCTCCTCTCCCTCCTCATCTTTCCCCACCCCTACCACTGTATGTCCCAGCCCTTCTGGCCTCATGGTCTATCATTCCCTCTGCCTGGAACCCTCCACCCACCCCATCTTTGCGCACTGGTCCTCACCGATGCCCTTCCGTGGTGGAACAGGTGCTTCCTTTGGGCTTCTATCACAGCAACTCGATCCCTCTGGCAGTTCTAAGCAGTCTGGCAGCGTCTTCTTAAAGGCAGGAACCCCAGCATGGCCTGGCCCAGGACTGGCCTTCAGGAGGACTGTGAATTCATGGAGGTGTTGGAAGCTGGGCAGGATTTGGATGGCTCTCTGTCATTGCCCAGCATAACCAATTGTGGGACCCCGGTCCCCTCTACACCCCCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTACGTCTGTCCGTGGTTTGGCCCTGTGGTCCCCATTGAAGTGTACACTTTAGTTTTTCTGAGTGTTCTTCCAGGAGCAGCATAGTGCCAGGAAGGTCTAAGGAGCTGGAAGAAGAGCTTTCCAAGCAAGAAAGAGACAAGCCAGGGTTAGGACTCTGGAGGGGGCAGTCTTCCCACTCTGAAGGCCAGAAAGTGTAGTGGCTCAGGGTCTGTGCTCTTAACCCTTTGTTACCAGTTGTCAGGTTTTGGGCAAGTCACTTCCCTTCTCTGAGCCTCAGTTTTCTAATCTCCAGAAGAGGGATTATGACGGTACCTGCATCCAAGGGTCGCTGGGAGGATGCAGTGAAGTCAACGTTCGCTGTGGGTGTGGCCTGTGCAGGAGACCCTGTCTGCCTGGTGCAGTGATCCCCTGGCCCCTCCTCAGGTGCTGTATCCTTCGGGGAGCAGGAGCAGGTGGAAGAACCTTGACAGACCTGAGTGCGGTGCAAGATTAGAGGGGCCCGGCAAGCCCAGATGAGTGAAAGGAAGGAAGGGTCAAAGACCAGGAATGAAGAAAATCATTGAGCAGGAATGAGTGCCTGGGAGCGAAGGAGTGAGCCCAGGGAGCAGTGAGTGGGGTCTTCCAGGGAGCTTGTTGGTGTGGGGCCCTGCATGGGGACTACCCTCAGAGTGTCAGCGAGCACTGATAGGGCCAGGAAGGCATATCTTAACCCTTTGTCTTAGATGCTTGGGGCAAGTTGCTTAACTGCCCTGTGCCTCTGTTTCCTCATTCGTAAGGGGGATGGTAGCCCTTCCCAAGACAGCTGTTGAGGGCAGTCTTGGGGCAGTTGGCAAAGTGCCCTCAGCACAGAGTAAGCGCTCAGGGCCAGGGGTTGGTGTCATGATCGGGGACTCGCCCTGGGACAGCCCTTCAGCAGGGCCAGACCACGTGGCTGTCCAGAGCCCCCATGGACCAGCATGGCTTGCAGCCTGCTCCTGGACTGTCTACTGCTCACAGCTGGACCAGGCCCTTGGCCCCACATGCTCTAGGAGGGCAAACGCCCTGTGGTGTTTGTCTAAGGTCTAGTGTCATCCGTGCGGAAAAAGATTTCCAGACACCAGGCAGCAAGCTGGGCCCCCGCCAGCTGTGCTGAGCACTGCACCTGTTTTTGCTGAAGGGTTCTCTTGTGAGGGCACCAGGCAGGACCGAGCAAGCCTCATGGGAATCATGGGAGCCGCTGAGCTCTCCACATGGGAGAGCTGGCCGCCTCTGCAAGAATGACTGTCCAGCACTGAGGGTCAGCAGAAGTGTCTGGGCAGCTGCAAATGGGACTCATGCAGAGGCAGCATGGTGCAGGGTAAGGAGTTGAGTCACATCCACTCTAGACTTCACTTGGCAGGCCACTCACCTTGGTGACGCTGTCTGTCGTCTGTGAAGTGAGAAGAGTGGTGTTCATCATGATAGGTAGTGCCTCCCTGGGCTCTTGACACCAGAGTGCTGTTCTTTTTTTCTTCTCCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGCGATCCGCCCTCCTCCACCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACGGTGGCGCAGTCTTGGCTCATTGCAACTTCTGCCTTCCAGGTTCAGGTGATTCTCCTGCCTCAGACTCCGGAGTAGCTGGAATTAAAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTT
|
CCGGGGTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGATACATCTTTAGGAAGTGCTCAGCTGCTCAGCAGCACACTCTGAGACCCAGCCCCATCCTTTCTCTGCTTCACTGTTGTTGGTGAGTTGACCTTCGTGCTCTGCTTGTGGCCTCGTGTTCACAGCATGGCTGCTGCATGTCCAAGCTTCATGGCTGTCTGCAAGGCAGGAAGAAGTAGGGAGTGGGTAGGGCTGGCACCAGCAGCAGTGGTCTCTTCTATCCAGAAAGCAAAAGCAGACTTCCACCAAAATATCTGGCTAAAACTGTGTCCCATGGCCACCTCTGGCTGCAAGGGAGGCCAGGGACCTGAGTGCGTGTCTTTTTGAGGCTCAGGTTAGGGGATTTGGGAGAAGGGAACTGGGCACTGGTGTGGCCAGCTGACAGGGTCTGCTGCCCCCTAGCACAGCCGACTCAGCTTCCTCAGACACATCCACCTGCTCCTCTCCCGCCTCCCTCTGCTACCAAGCTGGGCCTCTGCCCCCTCTCTCCTGGCTTGCTGCAATCAGCCTTGATGACTCCATCCATTTACCTCACTGCAGCCTGAGAGCAATTCTAAAACACAGGTCTGACCACATTGCTCCCTTGAGAAGACTGTCGGCAGGTTACCACTATTCTCAGAGTAAAATCAATGTATCGTTCCCTTTGTTATCTGGGTGCCATCTCCTCTCCCTCCTCATCTTTCCCCACCCCTACCACTGTATGTCCCAGCCCTTCTGGCCTCATGGTCTATCATTCCCTCTGCCTGGAACCCTCCACCCACCCCATCTTTGCGCACTGGTCCTCACCGATGCCCTTCCGTGGTGGAACAGGTGCTTCCTTTGGGCTTCTATCACAGCAACTCGATCCCTCTGGCAGTTCTAAGCAGTCTGGCAGCGTCTTCTTAAAGGCAGGAACCCCAGCATGGCCTGGCCCAGGACTGGCCTTCAGGAGGACTGTGAATTCATGGAGGTGTTGGAAGCTGGGCAGGATTTGGATGGCTCTCTGTCATTGCCCAGCATAACCAATTGTGGGACCCCGGTCCCCTCTACACCCCCAGGGCCGGATCTCCTTCTACATGACCAATATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTACGTCTGTCCGTGGTTTGGCCCTGTGGTCCCCATTGAAGTGTACACTTTAGTTTTTCTGAGTGTTCTTCCAGGAGCAGCATAGTGCCAGGAAGGTCTAAGGAGCTGGAAGAAGAGCTTTCCAAGCAAGAAAGAGACAAGCCAGGGTTAGGACTCTGGAGGGGGCAGTCTTCCCACTCTGAAGGCCAGAAAGTGTAGTGGCTCAGGGTCTGTGCTCTTAACCCTTTGTTACCAGTTGTCAGGTTTTGGGCAAGTCACTTCCCTTCTCTGAGCCTCAGTTTTCTAATCTCCAGAAGAGGGATTATGACGGTACCTGCATCCAAGGGTCGCTGGGAGGATGCAGTGAAGTCAACGTTCGCTGTGGGTGTGGCCTGTGCAGGAGACCCTGTCTGCCTGGTGCAGTGATCCCCTGGCCCCTCCTCAGGTGCTGTATCCTTCGGGGAGCAGGAGCAGGTGGAAGAACCTTGACAGACCTGAGTGCGGTGCAAGATTAGAGGGGCCCGGCAAGCCCAGATGAGTGAAAGGAAGGAAGGGTCAAAGACCAGGAATGAAGAAAATCATTGAGCAGGAATGAGTGCCTGGGAGCGAAGGAGTGAGCCCAGGGAGCAGTGAGTGGGGTCTTCCAGGGAGCTTGTTGGTGTGGGGCCCTGCATGGGGACTACCCTCAGAGTGTCAGCGAGCACTGATAGGGCCAGGAAGGCATATCTTAACCCTTTGTCTTAGATGCTTGGGGCAAGTTGCTTAACTGCCCTGTGCCTCTGTTTCCTCATTCGTAAGGGGGATGGTAGCCCTTCCCAAGACAGCTGTTGAGGGCAGTCTTGGGGCAGTTGGCAAAGTGCCCTCAGCACAGAGTAAGCGCTCAGGGCCAGGGGTTGGTGTCATGATCGGGGACTCGCCCTGGGACAGCCCTTCAGCAGGGCCAGACCACGTGGCTGTCCAGAGCCCCCATGGACCAGCATGGCTTGCAGCCTGCTCCTGGACTGTCTACTGCTCACAGCTGGACCAGGCCCTTGGCCCCACATGCTCTAGGAGGGCAAACGCCCTGTGGTGTTTGTCTAAGGTCTAGTGTCATCCGTGCGGAAAAAGATTTCCAGACACCAGGCAGCAAGCTGGGCCCCCGCCAGCTGTGCTGAGCACTGCACCTGTTTTTGCTGAAGGGTTCTCTTGTGAGGGCACCAGGCAGGACCGAGCAAGCCTCATGGGAATCATGGGAGCCGCTGAGCTCTCCACATGGGAGAGCTGGCCGCCTCTGCAAGAATGACTGTCCAGCACTGAGGGTCAGCAGAAGTGTCTGGGCAGCTGCAAATGGGACTCATGCAGAGGCAGCATGGTGCAGGGTAAGGAGTTGAGTCACATCCACTCTAGACTTCACTTGGCAGGCCACTCACCTTGGTGACGCTGTCTGTCGTCTGTGAAGTGAGAAGAGTGGTGTTCATCATGATAGGTAGTGCCTCCCTGGGCTCTTGACACCAGAGTGCTGTTCTTTTTTTCTTCTCCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGCGATCCGCCCTCCTCCACCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACGGTGGCGCAGTCTTGGCTCATTGCAACTTCTGCCTTCCAGGTTCAGGTGATTCTCCTGCCTCAGACTCCGGAGTAGCTGGAATTAAAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTN
|
pathogenic
| 305,340 |
Evaluate if the mutation on chromosome 19 at position 41414079 in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
GTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGATACATCTTTAGGAAGTGCTCAGCTGCTCAGCAGCACACTCTGAGACCCAGCCCCATCCTTTCTCTGCTTCACTGTTGTTGGTGAGTTGACCTTCGTGCTCTGCTTGTGGCCTCGTGTTCACAGCATGGCTGCTGCATGTCCAAGCTTCATGGCTGTCTGCAAGGCAGGAAGAAGTAGGGAGTGGGTAGGGCTGGCACCAGCAGCAGTGGTCTCTTCTATCCAGAAAGCAAAAGCAGACTTCCACCAAAATATCTGGCTAAAACTGTGTCCCATGGCCACCTCTGGCTGCAAGGGAGGCCAGGGACCTGAGTGCGTGTCTTTTTGAGGCTCAGGTTAGGGGATTTGGGAGAAGGGAACTGGGCACTGGTGTGGCCAGCTGACAGGGTCTGCTGCCCCCTAGCACAGCCGACTCAGCTTCCTCAGACACATCCACCTGCTCCTCTCCCGCCTCCCTCTGCTACCAAGCTGGGCCTCTGCCCCCTCTCTCCTGGCTTGCTGCAATCAGCCTTGATGACTCCATCCATTTACCTCACTGCAGCCTGAGAGCAATTCTAAAACACAGGTCTGACCACATTGCTCCCTTGAGAAGACTGTCGGCAGGTTACCACTATTCTCAGAGTAAAATCAATGTATCGTTCCCTTTGTTATCTGGGTGCCATCTCCTCTCCCTCCTCATCTTTCCCCACCCCTACCACTGTATGTCCCAGCCCTTCTGGCCTCATGGTCTATCATTCCCTCTGCCTGGAACCCTCCACCCACCCCATCTTTGCGCACTGGTCCTCACCGATGCCCTTCCGTGGTGGAACAGGTGCTTCCTTTGGGCTTCTATCACAGCAACTCGATCCCTCTGGCAGTTCTAAGCAGTCTGGCAGCGTCTTCTTAAAGGCAGGAACCCCAGCATGGCCTGGCCCAGGACTGGCCTTCAGGAGGACTGTGAATTCATGGAGGTGTTGGAAGCTGGGCAGGATTTGGATGGCTCTCTGTCATTGCCCAGCATAACCAATTGTGGGACCCCGGTCCCCTCTACACCCCCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTACGTCTGTCCGTGGTTTGGCCCTGTGGTCCCCATTGAAGTGTACACTTTAGTTTTTCTGAGTGTTCTTCCAGGAGCAGCATAGTGCCAGGAAGGTCTAAGGAGCTGGAAGAAGAGCTTTCCAAGCAAGAAAGAGACAAGCCAGGGTTAGGACTCTGGAGGGGGCAGTCTTCCCACTCTGAAGGCCAGAAAGTGTAGTGGCTCAGGGTCTGTGCTCTTAACCCTTTGTTACCAGTTGTCAGGTTTTGGGCAAGTCACTTCCCTTCTCTGAGCCTCAGTTTTCTAATCTCCAGAAGAGGGATTATGACGGTACCTGCATCCAAGGGTCGCTGGGAGGATGCAGTGAAGTCAACGTTCGCTGTGGGTGTGGCCTGTGCAGGAGACCCTGTCTGCCTGGTGCAGTGATCCCCTGGCCCCTCCTCAGGTGCTGTATCCTTCGGGGAGCAGGAGCAGGTGGAAGAACCTTGACAGACCTGAGTGCGGTGCAAGATTAGAGGGGCCCGGCAAGCCCAGATGAGTGAAAGGAAGGAAGGGTCAAAGACCAGGAATGAAGAAAATCATTGAGCAGGAATGAGTGCCTGGGAGCGAAGGAGTGAGCCCAGGGAGCAGTGAGTGGGGTCTTCCAGGGAGCTTGTTGGTGTGGGGCCCTGCATGGGGACTACCCTCAGAGTGTCAGCGAGCACTGATAGGGCCAGGAAGGCATATCTTAACCCTTTGTCTTAGATGCTTGGGGCAAGTTGCTTAACTGCCCTGTGCCTCTGTTTCCTCATTCGTAAGGGGGATGGTAGCCCTTCCCAAGACAGCTGTTGAGGGCAGTCTTGGGGCAGTTGGCAAAGTGCCCTCAGCACAGAGTAAGCGCTCAGGGCCAGGGGTTGGTGTCATGATCGGGGACTCGCCCTGGGACAGCCCTTCAGCAGGGCCAGACCACGTGGCTGTCCAGAGCCCCCATGGACCAGCATGGCTTGCAGCCTGCTCCTGGACTGTCTACTGCTCACAGCTGGACCAGGCCCTTGGCCCCACATGCTCTAGGAGGGCAAACGCCCTGTGGTGTTTGTCTAAGGTCTAGTGTCATCCGTGCGGAAAAAGATTTCCAGACACCAGGCAGCAAGCTGGGCCCCCGCCAGCTGTGCTGAGCACTGCACCTGTTTTTGCTGAAGGGTTCTCTTGTGAGGGCACCAGGCAGGACCGAGCAAGCCTCATGGGAATCATGGGAGCCGCTGAGCTCTCCACATGGGAGAGCTGGCCGCCTCTGCAAGAATGACTGTCCAGCACTGAGGGTCAGCAGAAGTGTCTGGGCAGCTGCAAATGGGACTCATGCAGAGGCAGCATGGTGCAGGGTAAGGAGTTGAGTCACATCCACTCTAGACTTCACTTGGCAGGCCACTCACCTTGGTGACGCTGTCTGTCGTCTGTGAAGTGAGAAGAGTGGTGTTCATCATGATAGGTAGTGCCTCCCTGGGCTCTTGACACCAGAGTGCTGTTCTTTTTTTCTTCTCCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGCGATCCGCCCTCCTCCACCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACGGTGGCGCAGTCTTGGCTCATTGCAACTTCTGCCTTCCAGGTTCAGGTGATTCTCCTGCCTCAGACTCCGGAGTAGCTGGAATTAAAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGT
|
GTGTCCCTCAGGGTGCTGGCCAGGCTGCCTTTGTTCCGCTTTACACATGGCCCTGTGTGATCTCATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGGTAGGATTATAGGTGTGAGCCACTGCACCCAGCTGTAGCTACTTCTTTTCTTTTATGTTATTTTTATTTATTTATTTAGAGACGGAGTCCACCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCCCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACATTGGCCAGGCTAGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTACCGGGATTACAGGTGTGAGCCACCGTGCCTAGCCTGTCTGTAGATACATCTTTAGGAAGTGCTCAGCTGCTCAGCAGCACACTCTGAGACCCAGCCCCATCCTTTCTCTGCTTCACTGTTGTTGGTGAGTTGACCTTCGTGCTCTGCTTGTGGCCTCGTGTTCACAGCATGGCTGCTGCATGTCCAAGCTTCATGGCTGTCTGCAAGGCAGGAAGAAGTAGGGAGTGGGTAGGGCTGGCACCAGCAGCAGTGGTCTCTTCTATCCAGAAAGCAAAAGCAGACTTCCACCAAAATATCTGGCTAAAACTGTGTCCCATGGCCACCTCTGGCTGCAAGGGAGGCCAGGGACCTGAGTGCGTGTCTTTTTGAGGCTCAGGTTAGGGGATTTGGGAGAAGGGAACTGGGCACTGGTGTGGCCAGCTGACAGGGTCTGCTGCCCCCTAGCACAGCCGACTCAGCTTCCTCAGACACATCCACCTGCTCCTCTCCCGCCTCCCTCTGCTACCAAGCTGGGCCTCTGCCCCCTCTCTCCTGGCTTGCTGCAATCAGCCTTGATGACTCCATCCATTTACCTCACTGCAGCCTGAGAGCAATTCTAAAACACAGGTCTGACCACATTGCTCCCTTGAGAAGACTGTCGGCAGGTTACCACTATTCTCAGAGTAAAATCAATGTATCGTTCCCTTTGTTATCTGGGTGCCATCTCCTCTCCCTCCTCATCTTTCCCCACCCCTACCACTGTATGTCCCAGCCCTTCTGGCCTCATGGTCTATCATTCCCTCTGCCTGGAACCCTCCACCCACCCCATCTTTGCGCACTGGTCCTCACCGATGCCCTTCCGTGGTGGAACAGGTGCTTCCTTTGGGCTTCTATCACAGCAACTCGATCCCTCTGGCAGTTCTAAGCAGTCTGGCAGCGTCTTCTTAAAGGCAGGAACCCCAGCATGGCCTGGCCCAGGACTGGCCTTCAGGAGGACTGTGAATTCATGGAGGTGTTGGAAGCTGGGCAGGATTTGGATGGCTCTCTGTCATTGCCCAGCATAACCAATTGTGGGACCCCGGTCCCCTCTACACCCCCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTACGTCTGTCCGTGGTTTGGCCCTGTGGTCCCCATTGAAGTGTACACTTTAGTTTTTCTGAGTGTTCTTCCAGGAGCAGCATAGTGCCAGGAAGGTCTAAGGAGCTGGAAGAAGAGCTTTCCAAGCAAGAAAGAGACAAGCCAGGGTTAGGACTCTGGAGGGGGCAGTCTTCCCACTCTGAAGGCCAGAAAGTGTAGTGGCTCAGGGTCTGTGCTCTTAACCCTTTGTTACCAGTTGTCAGGTTTTGGGCAAGTCACTTCCCTTCTCTGAGCCTCAGTTTTCTAATCTCCAGAAGAGGGATTATGACGGTACCTGCATCCAAGGGTCGCTGGGAGGATGCAGTGAAGTCAACGTTCGCTGTGGGTGTGGCCTGTGCAGGAGACCCTGTCTGCCTGGTGCAGTGATCCCCTGGCCCCTCCTCAGGTGCTGTATCCTTCGGGGAGCAGGAGCAGGTGGAAGAACCTTGACAGACCTGAGTGCGGTGCAAGATTAGAGGGGCCCGGCAAGCCCAGATGAGTGAAAGGAAGGAAGGGTCAAAGACCAGGAATGAAGAAAATCATTGAGCAGGAATGAGTGCCTGGGAGCGAAGGAGTGAGCCCAGGGAGCAGTGAGTGGGGTCTTCCAGGGAGCTTGTTGGTGTGGGGCCCTGCATGGGGACTACCCTCAGAGTGTCAGCGAGCACTGATAGGGCCAGGAAGGCATATCTTAACCCTTTGTCTTAGATGCTTGGGGCAAGTTGCTTAACTGCCCTGTGCCTCTGTTTCCTCATTCGTAAGGGGGATGGTAGCCCTTCCCAAGACAGCTGTTGAGGGCAGTCTTGGGGCAGTTGGCAAAGTGCCCTCAGCACAGAGTAAGCGCTCAGGGCCAGGGGTTGGTGTCATGATCGGGGACTCGCCCTGGGACAGCCCTTCAGCAGGGCCAGACCACGTGGCTGTCCAGAGCCCCCATGGACCAGCATGGCTTGCAGCCTGCTCCTGGACTGTCTACTGCTCACAGCTGGACCAGGCCCTTGGCCCCACATGCTCTAGGAGGGCAAACGCCCTGTGGTGTTTGTCTAAGGTCTAGTGTCATCCGTGCGGAAAAAGATTTCCAGACACCAGGCAGCAAGCTGGGCCCCCGCCAGCTGTGCTGAGCACTGCACCTGTTTTTGCTGAAGGGTTCTCTTGTGAGGGCACCAGGCAGGACCGAGCAAGCCTCATGGGAATCATGGGAGCCGCTGAGCTCTCCACATGGGAGAGCTGGCCGCCTCTGCAAGAATGACTGTCCAGCACTGAGGGTCAGCAGAAGTGTCTGGGCAGCTGCAAATGGGACTCATGCAGAGGCAGCATGGTGCAGGGTAAGGAGTTGAGTCACATCCACTCTAGACTTCACTTGGCAGGCCACTCACCTTGGTGACGCTGTCTGTCGTCTGTGAAGTGAGAAGAGTGGTGTTCATCATGATAGGTAGTGCCTCCCTGGGCTCTTGACACCAGAGTGCTGTTCTTTTTTTCTTCTCCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGCGATCCGCCCTCCTCCACCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTTTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACGGTGGCGCAGTCTTGGCTCATTGCAACTTCTGCCTTCCAGGTTCAGGTGATTCTCCTGCCTCAGACTCCGGAGTAGCTGGAATTAAAGGCATGCACCACCATGCCTGGCTA
|
pathogenic
| 305,341 |
A genetic alteration at chromosome 19, position 41419156, in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Maple_syrup_urine_disease', 'Maple_syrup_urine_disease_type_1A']
|
ATCAAGTGATCCTCCCACCTCAGCCCCCTGAATAGCTGGGACCACAGGTGCACGCCACCACACCTGGCTAATTTTTTTTTTGATTTTTGGTAGAGACGGGGTTTCGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCACCTGCCTCACCCTTCCAAAGTGCTGGGATTACAGGCACGAGCCACTGAGCCTGACAAGTTTGTACTTTTAGCACGTTCCCCTGCCCCTGCCCAGTCCTTCTCACATGGGTGGACCTAGTACCACATTCTGAGAAAGCCTGATTCCAAGGTCCTGTATCAGTCCCTTGGACCTTCTTTGACCCTCTACAAGACCTTTCTTTCCCTCCTTAACCAGAGCAACTCCTGTTTCTATCTGTTACATATGCAGCACAGCCACATCTTGTGTGGATTTGTATTATGTCCATTCAAAAGCATGTGTCAGAAAATACCAGTAAACCTGTATTAAAGTTGGATGTTGAAGTAGTGCTAACCACCCTCAACTCTAACTAAAATATCAACAAGTGGGCTGGGCGTGGTGGCTCACACCTGTAATTGCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTCCTGAAAATGCAAAAATTAGCTGGATGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCATTCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAGAAAGAAAATTAGGTAGATCTAGTGGTGCACACCTGGAATCCCAGCTATCTGGGAGGCTGAGGCATAAGAATTGCTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCTCAGATTGCGCCACTGCACTCCAGCCTGGGTGGCCAAGCCAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTAACTGCTGTGTGTAATGTGATCTCCATTAAATTTGTATCTAAAGAGCGGGTTCTGCGGTAAAGAAAGGATTTGGAAAGCACTGTACTAGAGAGCTCCCTCTGAATAATGTTCCCGGTCTGAGTGCTTGCAGCATTGATCCACAGCGCTGCCCCTAAAGTGTTGGTGTGAAGGTTGTCCCACTCTTCAGGCGGGGCAAAGAGCTTGTCTGAGGGCAATCACAAACCCCCTTCTGTCTTCTAACTTCGGAGGAAGGGCCCCCTTAACCTGGAGCGGTTCCCTTTGATGGGGAGGTGGGTGTTCACCAGAGGTTTTGTTTGAAGAAAAGGTTTTACTGCCATACATGGGTTAGAGTACTTCTGTAGTCCAGAAGTTGTAAATTAGTGGTCTATGCTGTTATTTGGTTCATAATGATGATTTTTTTTTTTTTTCGAGACAGGGTCTTGCTTTGTAGCCCAGATTGGAGTGCAGTGGCACGATCTCAGCTGCCTGCAGCCTTGAACTTCTGGGCTGAAGCAATCCTCTGCCTCAGCCTCCCAAGTAGCTGGAACCACAGGCACACATCACCATGCCTGGCTAATGTTTTGATTTTTTTTTTTTTTTGTAGAAGCGAGGCCTCACCATGTTGCTCAGGCTGGTCTCCAACTCCTGGGCTCAAGCGATCCTCCAACGTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCACCATGCCTGGCCATAGTAATGATTTATGGTTAGAATATTTCTTAAAGGTAATTGAATTAGTTGAAAGCACTTAAATACCAGACAATATCTCACTAAGAGAAAGAAAGAAAAAGGCTAGATTTCTGCTTTCTTTTGAAAAATCAGATTGGCCTTGCTGGGCAGAGTCAGTCAGTCTGAACATCAGTCTTCCTCTTAAAACAAGCCTGAGCTTTCCTGTCTGCCTGCCAGCATGCTGCAGGTCACCCACAGGGCTGAACTGTCCCCCTGTACTGCCCACTCGGCTAACCATTGCCTCCTCCCCTCCTAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGGCAACATCAGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGCCACGCAGATCCCTCAGGGTGAGGATGCATGCCCTGTACCTTGCACATGTGCAGACCAATGTCACACCCCTGTCCAGGCCTCAGCTCTTTTGCCTGCCTTCTGGGTGGAATTCTGGGTTGGTGACACCACTAGAGCCCTGGTCTGTGCTCCAGACTTCTTCTTCTTATTTTTTTCTTTTTTGAGACGGAGTCTTGCACTGTTGCCCAGGCTAGAGTGCAGTGGTGCTATCGCAGCTCACTGCAGCCTCCTTCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGATTAGCTGAGACTACAGGTGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCCGGCCTCAGGTGATCCACCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCGTTTAAGCCATTGTGCCCAGCCCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTCTGAGACGGGGTTTCACTCTCGTCAGCCAGGTTGGAGTGCAATGGTGCAATCTCGGCTCACTGTAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTATGGGCATATGCCATTGTGCTTGGCTAAATTTTTGTATTTTTTGTAGAGATAAGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACCTGAGTTCAAGTGATCTGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCTGGCCTGTGTTCCAGACTTTGAATGCACCTCTTGTCTGGGACCCTTCAGAAGAGGGCTCTGTTGCTGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTC
|
ATCAAGTGATCCTCCCACCTCAGCCCCCTGAATAGCTGGGACCACAGGTGCACGCCACCACACCTGGCTAATTTTTTTTTTGATTTTTGGTAGAGACGGGGTTTCGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCACCTGCCTCACCCTTCCAAAGTGCTGGGATTACAGGCACGAGCCACTGAGCCTGACAAGTTTGTACTTTTAGCACGTTCCCCTGCCCCTGCCCAGTCCTTCTCACATGGGTGGACCTAGTACCACATTCTGAGAAAGCCTGATTCCAAGGTCCTGTATCAGTCCCTTGGACCTTCTTTGACCCTCTACAAGACCTTTCTTTCCCTCCTTAACCAGAGCAACTCCTGTTTCTATCTGTTACATATGCAGCACAGCCACATCTTGTGTGGATTTGTATTATGTCCATTCAAAAGCATGTGTCAGAAAATACCAGTAAACCTGTATTAAAGTTGGATGTTGAAGTAGTGCTAACCACCCTCAACTCTAACTAAAATATCAACAAGTGGGCTGGGCGTGGTGGCTCACACCTGTAATTGCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTCCTGAAAATGCAAAAATTAGCTGGATGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCATTCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAGAAAGAAAATTAGGTAGATCTAGTGGTGCACACCTGGAATCCCAGCTATCTGGGAGGCTGAGGCATAAGAATTGCTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCTCAGATTGCGCCACTGCACTCCAGCCTGGGTGGCCAAGCCAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTAACTGCTGTGTGTAATGTGATCTCCATTAAATTTGTATCTAAAGAGCGGGTTCTGCGGTAAAGAAAGGATTTGGAAAGCACTGTACTAGAGAGCTCCCTCTGAATAATGTTCCCGGTCTGAGTGCTTGCAGCATTGATCCACAGCGCTGCCCCTAAAGTGTTGGTGTGAAGGTTGTCCCACTCTTCAGGCGGGGCAAAGAGCTTGTCTGAGGGCAATCACAAACCCCCTTCTGTCTTCTAACTTCGGAGGAAGGGCCCCCTTAACCTGGAGCGGTTCCCTTTGATGGGGAGGTGGGTGTTCACCAGAGGTTTTGTTTGAAGAAAAGGTTTTACTGCCATACATGGGTTAGAGTACTTCTGTAGTCCAGAAGTTGTAAATTAGTGGTCTATGCTGTTATTTGGTTCATAATGATGATTTTTTTTTTTTTTCGAGACAGGGTCTTGCTTTGTAGCCCAGATTGGAGTGCAGTGGCACGATCTCAGCTGCCTGCAGCCTTGAACTTCTGGGCTGAAGCAATCCTCTGCCTCAGCCTCCCAAGTAGCTGGAACCACAGGCACACATCACCATGCCTGGCTAATGTTTTGATTTTTTTTTTTTTTTGTAGAAGCGAGGCCTCACCATGTTGCTCAGGCTGGTCTCCAACTCCTGGGCTCAAGCGATCCTCCAACGTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCACCATGCCTGGCCATAGTAATGATTTATGGTTAGAATATTTCTTAAAGGTAATTGAATTAGTTGAAAGCACTTAAATACCAGACAATATCTCACTAAGAGAAAGAAAGAAAAAGGCTAGATTTCTGCTTTCTTTTGAAAAATCAGATTGGCCTTGCTGGGCAGAGTCAGTCAGTCTGAACATCAGTCTTCCTCTTAAAACAAGCCTGAGCTTTCCTGTCTGCCTGCCAGCATGCTGCAGGTCACCCACAGGGCTGAACTGTCCCCCTGTACTGCCCACTCGGCTAACCATTGCCTCCTCCCCTCCTAGGTGTGCTGATGTATCGGGACTACCCCTGGAACTATTCATGGCCCAGTGCTATGGCAACATCAGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGCCACGCAGATCCCTCAGGGTGAGGATGCATGCCCTGTACCTTGCACATGTGCAGACCAATGTCACACCCCTGTCCAGGCCTCAGCTCTTTTGCCTGCCTTCTGGGTGGAATTCTGGGTTGGTGACACCACTAGAGCCCTGGTCTGTGCTCCAGACTTCTTCTTCTTATTTTTTTCTTTTTTGAGACGGAGTCTTGCACTGTTGCCCAGGCTAGAGTGCAGTGGTGCTATCGCAGCTCACTGCAGCCTCCTTCTCCCAGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCGATTAGCTGAGACTACAGGTGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCCGGCCTCAGGTGATCCACCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCGTTTAAGCCATTGTGCCCAGCCCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTCTGAGACGGGGTTTCACTCTCGTCAGCCAGGTTGGAGTGCAATGGTGCAATCTCGGCTCACTGTAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTATGGGCATATGCCATTGTGCTTGGCTAAATTTTTGTATTTTTTGTAGAGATAAGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACCTGAGTTCAAGTGATCTGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCTGGCCTGTGTTCCAGACTTTGAATGCACCTCTTGTCTGGGACCCTTCAGAAGAGGGCTCTGTTGCTGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCN
|
pathogenic
| 305,348 |
Clinically, how would you classify the variant at chromosome 19, position 41422167, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Maple_syrup_urine_disease']
|
TCTGTTGCTGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTT
|
TCTGTTGCTGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTN
|
pathogenic
| 305,358 |
Clinical significance of chromosome 19, position 41422175, gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Maple_syrup_urine_disease']
|
TGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGC
|
TGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCACTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCCAGGCCTCAGCACTGTGCCCAGCACAGCAGGAGGCTCCACACCCCTTAGCTCATAGTGTTCTTTTGTTGAGGAACAAGAAGCAGTTTGAGCCTCTTAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGGGCATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCACAAGGCTGGGGCGTGGCCCTAACCTTCCCTCTGGGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCCATGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACGCAAACCTCAGCCCTCCTGGTGCTGCCATTGTGGTGGGGGAGACGGACAGTAACAGAGATGGAGAGGGAACTCCTGGAGTATATGAGGGTGGGGGTCCTGTAGGGAGCAGCCAAGCCAGCCGGGTGTGGTGCACTGTAGGGGTGGCTGGGGTCCGTCACTGGAGTGACACTGAAGTATGGACCAGAGGATGTGAGGGGGGAGCTGTGTGGTGTCTTGAGGCAGGTGTGAGCCTGGCGTGTTTGAGGAGCTGGGAGGAGCCCAGAGGGGCAGGTGTGGAGTGAGCAGGTGTGGAGTGAGCGGGTGTAGGGTGAGCAGGTGTGGGGTGGTTGGAGGTAAAGTCCAGGAGGTGGTGGGTGGGGGTGCAGATGGTGCAGGTTGGGTGGGGCCTCAAGGCCTTTGCCTGTTGCAGGGATGTCGACTTTTACTCAAAGTGGGACAGGAGCCGTGGGTGGGGAGGAGTCTGCTCTTCCTTGGCCTGGCTCACCTCTTCATGGAATCCGCGGGCTGCCCTGTGGATAAGGGATTGGGCAGTGTGTGAAGGGCTAGTAAGGAGGCTGCTCAGTAACTTGGGCTTGACCAGGGTGGTGCAGAGGAGGAGGTAAGAGGGGTTAGGTTCTGAAGGTGGAGTAGATGTGGAGAATGGCGGGAAGTTTGGCTTGGAGATGATACTGGACTCTTCAGCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTGAGCAAGAGGAGACCTGGGTGGGCAGATGCTGGGGGGCATCAGGAGCTGAGGTGTTTCCTTTCCCCTTGAAGCCTGGTGACTGCTGGCCTGAGCCACGCTTGAGCCGTGGGTCATGTGAGTGTGAATGAGTGTGAGTGCATGTGAGTCTCCGCCCCTGCTCACCACCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGGTATGGGCTCTGCTGGCTGCTCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCCTGCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCGTCCTGTGTCCTGTGGCGTCTGGCACTTGGTCAGCCACAGGAGTTGAGGTCCTGAGCACTCAGCCTTGCTCTCTGTCCTCTCCCTGCTCGTCCCCTTGGCCTCGTGCATGTTCCTTATCTCAGCCCTGGCCTGACCTGCCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCCCCCCGTCAGCACCCCCACAGCACTGACAGCCACCGTAGCATCTTCCTCATATCGATCACTGTCTCCAAAACATGGCCTTATCACCTGATGTTGCATCTCCCCCTTGCCTTTATTCCGTTTCCACTCCTCCTTCCCTAGTTCATCCCCCATCCTCCCTCCTGACCCCCACTCCAGGGAGCCCACACTGACCTGGGGCCCCTTGCCCCTGTGCAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGAGGGTGCCCCGCCCGGGAGGGTGTGCTGGGGGCTGCTGCGGCCTGCAGAGCTTGGGAAGGATTTGTGGAACACCGAACTGGGAGGCTCAGGGATAACCCCAGTGATGTCTCAGATGTGGCCTGTGGAGCCAGGCTGCTGGGGCCATGTGTGTCCTGGCTCTGTGTCCTTGGCATGTTGCCCTCCACTTCCTTGTCTTTGAAAGGGGATGCTGGTGGTGCCCATTTCAGAAACTGGTTTGAGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGCAGATCACTTGAGGTCAGGAGCTTGAGAACAGCCTGGCCAAACATGGTCAAGCCCTGTCTCTACTAAAAATACAAAAATTAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCGGGCATGGTGCCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACGAGAGCAAGACTCCATCTCAAAAAAAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAAGGTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAACTTGCAGTGATTGGAGATGGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTATCTCTTAAAAAAAAAAAAAAGCTGGTTTGAGGATTAGGTGGCAAACCGTGGTGGAGTGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTGGCCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTGAGGGCAGCACCCGGCATAGGGCAGCACCGTGTGTCCTGTCCCTGCCCTTCTCTGTGCCTCAGTTTCCTCATTGCTTAGCTGTCTACCTCTTAGGGCTGCNNNN
|
pathogenic
| 305,359 |
Subsets and Splits
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