Split (2)

train · 35.2k rows

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	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	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?	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

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