ENST00000463290.5:n.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT

Variant names:

• chr1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT
• ENST00000463290.5:n.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PP5_Moderate

The ENST00000463290.5(MPZ):​n.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT variant causes a non coding transcript exon change. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. Variant has been reported in ClinVar as Likely pathogenic (★).

• Frequency: Genomes: not found (cov: 31)
• Consequence: MPZ ENST00000463290.5 non_coding_transcript_exon
• Clinical Significance: Likely pathogenic criteria provided, single submitter P:1
• Conservation: PhyloP100: 4.14
• Publications: 0 publications found

Genes affected

MPZ (HGNC:7225): (myelin protein zero) This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]

MPZ Gene-Disease associations (from GenCC):

• Charcot-Marie-Tooth disease

  Inheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
• Charcot-Marie-Tooth disease type 1B

  Inheritance: AD Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Laboratory for Molecular Medicine, Orphanet
• neuropathy, congenital hypomyelinating, 2

  Inheritance: AD Classification: DEFINITIVE Submitted by: G2P
• autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• Charcot-Marie-Tooth disease dominant intermediate D

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• Charcot-Marie-Tooth disease type 2I

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• Charcot-Marie-Tooth disease type 2J

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• Charcot-Marie-Tooth disease type 3

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PP5: Variant 1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT is Pathogenic according to our data. Variant chr1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT is described in ClinVar as [Likely_pathogenic]. Clinvar id is 243058.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MPZ	NM_000530.8	c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT		3_prime_UTR_variant	Exon 6 of 6	ENST00000533357.5	NP_000521.2
MPZ	NM_001315491.2	c.815_816insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT	p.Val272_Ile273insGlyThrProArgSerValProGlyProProLeuSerGlnProHisArgCysSerGlyProLeuProLeuProGlnLeuTrpLeuLeuGlyLeuProHisProAlaProAlaLeuSerTrpLeuCysCysSerSerLeuLeuTrpValSerGlyAlaThrLeuLeuTrpGluSerTrpAspSerGlyValSerGlnGlnSerProGlnProLeuLeuHisSerProLeuGlnProLysLysGluGlnAlaGlyAlaGlyArgTerHisTyrIleGlnLysGluLysIleCysGlyTrpAlaTrpTrpLeuMetProValIleProAlaLeuTrpGluAlaLysValGlyTerLeuPheGluProGlnGluLeuGluThrSerLeuAspAsnIleThrArgLeuHisLeuTerAsnSerLysLysLysLysIleTyrIleTyrIleTyrGluLysLysLysIleCysIleTerArgGluGluValGluValLeuPheTerLysLysGlyTerLysArgValTerGlnAlaSerLeuSerGlyGlyHisGlyTrpThrGlnValGlyAsnSerSerMetProProGluProCysTerGlnProGlyGlyLysGlnCysTerIleThrTerArgAsnArgLeuLysHisLeuGlyLeuValProThrArgProLeuAlaValGlnGluValProTerProTerPheProArgArgLysLysArgValArgSerLysTerGlyAlaGlnValCysGlyLeuSerSerSerAspPheLeuSerLeuTyrGlySerSerProValValTrpValAsnGlyValArgPheTyrGluIleLeuGlySerTyrProSerLysAlaValPheLeuHisLysLeuThrSerProPheLeuAlaProTrpGlnMetLeuGlyGluTerGluValLysAlaGlyLeuLeuGluTrpProLeuProPheSerGluLeuProTerIleLeuValGlnTerValSerHisArgGlnValGlyValValGlyArgThrSerArgGluArgGlyLeuAlaArgMetProArgValLeuCysCysGlnLeuLeuGluProTerThrLeuLeuGlyCysThrGlyLeuPheGlyGlyThrLeuArgLysCysTerArgTerArgValGlyGluGlyHisSerGluGlyAsnArgGlyLysGluSerTerCysIleArgLysArgGluSerCysValSerThrLeuValProLeuIleGluProLeuSerThrAlaGluLysGlyAsnGlyTerTyrCysAsnArgArgAsnArgSerTerSerGlnTerIleIleSerLeuValLysGlnGlyGlyPheProArgArgPheTerGlyGlySerSerArgArgTerValHisGlyIleAlaCysTerGlyGluArgPheArgThrValGlyValGlyValGlyValAlaTerAlaProGlnArgTrpSerAspAsnGlyThrLeuPheGlyCysHisLeuProLeuLeuTerAsnLysLysValTyrSerCysProSerLeuGlyProAlaHisThrHisSerLeuSerGlyMetThrPheLeuValTrpValSerLeuGlyAspGlyThrGlyProGlnTrpProArgGlyArgTerGlyGlnLeuAsnHisArgGlyLeuThrCysArgValIleTerAlaValGlyLeuGlyCysCysSerAlaProSerTerGluGlyTyrGluAlaLeuProPheLeuThrLeuGlnSerArgAlaSerCysMetAlaThrArgAspSerAlaMetArgThrValValProGlyLysLysThrTyrIlePheTerLeuSerSerPhePheSerAlaArgAsnLeuSerLeuLeuTyrCysGluIleGlnCysSerCysTerAsnLysIleAspIleTyrGluSerThrGlyLysAlaProProAspThrTerValLeuLysGlnLysAspThrArgIleGlnCysAsnMetTyrValGluLysLysThrProGlnAsnTyrLeuLeuTerValCysValTyrLeuGluPheIleGluPheIleLeuSerLeuIleHisIleLysTrpIleThrCysTyrIleLeuGluGlyAsnThrGlyLysGluPheValGlyLeuSerValLysGlyAspPheCysPheIleSerIleAlaTerIleValTyrLysLysSerThrIleCysIleThrCysIleIleTyrAsnLysPheTerLysPheArgThrLeuHisLeuLysAspSerLeuLysValArgTyrTerProLysGlyGluValArgLeuLysAspArgThrGlnSerLeuGluValLeuLysArgIleLeuLeuLeuLeuIleSerSerSerLeuGlnThrCysTerArgAlaTerGlnThrGlnHisLeuCysSerSerValGlnLeuValProArgAspLeuGlyLeuArgIleCysCysPhePheSerLysLeuAlaSerAspLeuTerLeuSerThrTerPheProThrAspLeuThrSerSerValSerLeuThrGlyProIleGlyAlaSerAspSerProLeuCysAlaCysSerAlaValProGlyProGlyHisArgGlyLeuHisArgGlnGlyGlyProTrpCysCysGlyLeuProGlyAspProAlaLeuLeuLeuLeuValGlnTerValGlyLeuArgTerHisLeuLeuHisLeuAlaLeuProAlaArgArgGlyGlnArgCysHisPheGlyGluCysLeuGlyGluSerTrpGlyTrpIleThrGluSerAlaSerLysAsnAsnLysLysAspAsnLeuGlyTerGlyGlyGlyAsnProPheTerAlaIleThrProThrLeuAlaArgTerMetThrValPheValThrLeuThrThrLeuSerSerLeuLeuGlnHisTyrProPheGlnProLysIleProTyrProGluAlaGlyAlaLysLeuPhePhePhePhePhePhePheCysPhePheLeuSerValThrAsnTyrGlyAlaLysLeuTerGlnLeuCysSerHisTerGlyProLeuThrCysPheProSerPheLeuIleAspLeuProLeuCysGlnGlyThrThrLeuHisTerArgGlyGlyAspLeuGlnArgAlaHisProValGlyArgGlyProSerLeuGluGlyTrpLeuHisCysHisThrGlnProArgLeuGlnTerGlnTrpHisValHisLeuTerArgGlnLysProSerArgHisSerGlyGlnAspLeuSerGlyHisAlaValCysLeuTerLysArgCysGluLysGlyTrpGlyGlnGlyTyrGlyLysGlnPheGlyArgGlySerGlyArgThrAspArgLeuGlyGluGluAlaLysSerProAlaTerGlyProLeuPheArgLeuTrpGluArgGlyGlnLysAlaValLeuAlaGlySerProThrSerSerMetGlnGlyIleHisSerAspTerGluProGlnIleGlnGlyProAlaHisSerProThrSerPheProThrProProSerAlaAsnTerValArgGlyArgSerGlySerCysAspArgGlyCysProArgGlyGlyAlaValAlaAlaAlaAlaPheLeuArgGlySerValLeuLeuAlaThrGlnAlaGlyGlyProAlaGluGluAlaGlnValArgGlyGlyAlaTerLeuProSerProSerProHisTyrProProSerGlyArgArgLeuLeuGlnTrpValGlyGlyProArgGlyArgGlySerCysValArgGlyAlaArgGlySerGlyGluAlaLysArgThrAlaValSerLeuLeuAlaValLeuTrpArgArgGlyAsnCysThrSerGlnGluArgThrArgArgSerAlaGlyGlyArgLeuAlaGlyLeuGlyAlaTerThrArgTrpGluGlyGluProTrpGluProProGlySerSerGluGlyTrpAspGlyAsnSerGlnAlaProValAlaArgTerLeuMetCysAlaProLeuProGlnThrProValLeuTyrAlaMetLeuAspHisSerArgSerThrLysAlaValSerGluLysLysAlaLysGlyLeuGlyGluSerArgLysAspLysLysTerArgLeuAlaGlyArgAlaGlyAspArgGlyLeuGlyValGluSerAlaLysGlyProLysValMetVal	stop_gained, disruptive_inframe_insertion	Exon 6 of 6		NP_001302420.1
MPZ	XM_017001321.3	c.675+300_675+301insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT		intron_variant	Intron 5 of 5		XP_016856810.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MPZ	ENST00000533357.5	c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT		3_prime_UTR_variant	Exon 6 of 6	1	NM_000530.8	ENSP00000432943.1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 13

GnomAD4 genome Cov.: 31

ClinVar

Significance: Likely pathogenic

Submissions summary: Pathogenic:1

Revision: criteria provided, single submitter

Submissions by phenotype

Charcot-Marie-Tooth disease type 1B Pathogenic:1

Sep 17, 2015

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: research

This duplication was identified in a patient with peripheral neuropathy. There is a report in the literature of MPZ duplication in an individual with peripheral neuropathy (PMID:21787890). -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		4.1

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

hg19: chr1-161275597;