1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT

Variant names:

• chr1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT
• NM_000530.8:c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT

Variant summary

Our verdict is Likely pathogenic. The variant received 6 ACMG points: 6P and 0B. PVS1_Strong PP5_Moderate

The NM_001315491.2(MPZ):​c.815_816insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT​(p.Val272_Ile273insGlyThrProArgSerValProGlyProProLeuSerGlnProHisArgCysSerGlyProLeuProLeuProGlnLeuTrpLeuLeuGlyLeuProHisProAlaProAlaLeuSerTrpLeuCysCysSerSerLeuLeuTrpValSerGlyAlaThrLeuLeuTrpGluSerTrpAspSerGlyValSerGlnGlnSerProGlnProLeuLeuHisSerProLeuGlnProLysLysGluGlnAlaGlyAlaGlyArgTerHisTyrIleGlnLysGluLysIleCysGlyTrpAlaTrpTrpLeuMetProValIleProAlaLeuTrpGluAlaLysValGlyTerLeuPheGluProGlnGluLeuGluThrSerLeuAspAsnIleThrArgLeuHisLeuTerAsnSerLysLysLysLysIleTyrIleTyrIleTyrGluLysLysLysIleCysIleTerArgGluGluValGluValLeuPheTerLysLysGlyTerLysArgValTerGlnAlaSerLeuSerGlyGlyHisGlyTrpThrGlnValGlyAsnSerSerMetProProGluProCysTerGlnProGlyGlyLysGlnCysTerIleThrTerArgAsnArgLeuLysHisLeuGlyLeuValProThrArgProLeuAlaValGlnGluValProTerProTerPheProArgArgLysLysArgValArgSerLysTerGlyAlaGlnValCysGlyLeuSerSerSerAspPheLeuSerLeuTyrGlySerSerProValValTrpValAsnGlyValArgPheTyrGluIleLeuGlySerTyrProSerLysAlaValPheLeuHisLysLeuThrSerProPheLeuAlaProTrpGlnMetLeuGlyGluTerGluValLysAlaGlyLeuLeuGluTrpProLeuProPheSerGluLeuProTerIleLeuValGlnTerValSerHisArgGlnValGlyValValGlyArgThrSerArgGluArgGlyLeuAlaArgMetProArgValLeuCysCysGlnLeuLeuGluProTerThrLeuLeuGlyCysThrGlyLeuPheGlyGlyThrLeuArgLysCysTerArgTerArgValGlyGluGlyHisSerGluGlyAsnArgGlyLysGluSerTerCysIleArgLysArgGluSerCysValSerThrLeuValProLeuIleGluProLeuSerThrAlaGluLysGlyAsnGlyTerTyrCysAsnArgArgAsnArgSerTerSerGlnTerIleIleSerLeuValLysGlnGlyGlyPheProArgArgPheTerGlyGlySerSerArgArgTerValHisGlyIleAlaCysTerGlyGluArgPheArgThrValGlyValGlyValGlyValAlaTerAlaProGlnArgTrpSerAspAsnGlyThrLeuPheGlyCysHisLeuProLeuLeuTerAsnLysLysValTyrSerCysProSerLeuGlyProAlaHisThrHisSerLeuSerGlyMetThrPheLeuValTrpValSerLeuGlyAspGlyThrGlyProGlnTrpProArgGlyArgTerGlyGlnLeuAsnHisArgGlyLeuThrCysArgValIleTerAlaValGlyLeuGlyCysCysSerAlaProSerTerGluGlyTyrGluAlaLeuProPheLeuThrLeuGlnSerArgAlaSerCysMetAlaThrArgAspSerAlaMetArgThrValValProGlyLysLysThrTyrIlePheTerLeuSerSerPhePheSerAlaArgAsnLeuSerLeuLeuTyrCysGluIleGlnCysSerCysTerAsnLysIleAspIleTyrGluSerThrGlyLysAlaProProAspThrTerValLeuLysGlnLysAspThrArgIleGlnCysAsnMetTyrValGluLysLysThrProGlnAsnTyrLeuLeuTerValCysValTyrLeuGluPheIleGluPheIleLeuSerLeuIleHisIleLysTrpIleThrCysTyrIleLeuGluGlyAsnThrGlyLysGluPheValGlyLeuSerValLysGlyAspPheCysPheIleSerIleAlaTerIleValTyrLysLysSerThrIleCysIleThrCysIleIleTyrAsnLysPheTerLysPheArgThrLeuHisLeuLysAspSerLeuLysValArgTyrTerProLysGlyGluValArgLeuLysAspArgThrGlnSerLeuGluValLeuLysArgIleLeuLeuLeuLeuIleSerSerSerLeuGlnThrCysTerArgAlaTerGlnThrGlnHisLeuCysSerSerValGlnLeuValProArgAspLeuGlyLeuArgIleCysCysPhePheSerLysLeuAlaSerAspLeuTerLeuSerThrTerPheProThrAspLeuThrSerSerValSerLeuThrGlyProIleGlyAlaSerAspSerProLeuCysAlaCysSerAlaValProGlyProGlyHisArgGlyLeuHisArgGlnGlyGlyProTrpCysCysGlyLeuProGlyAspProAlaLeuLeuLeuLeuValGlnTerValGlyLeuArgTerHisLeuLeuHisLeuAlaLeuProAlaArgArgGlyGlnArgCysHisPheGlyGluCysLeuGlyGluSerTrpGlyTrpIleThrGluSerAlaSerLysAsnAsnLysLysAspAsnLeuGlyTerGlyGlyGlyAsnProPheTerAlaIleThrProThrLeuAlaArgTerMetThrValPheValThrLeuThrThrLeuSerSerLeuLeuGlnHisTyrProPheGlnProLysIleProTyrProGluAlaGlyAlaLysLeuPhePhePhePhePhePhePheCysPhePheLeuSerValThrAsnTyrGlyAlaLysLeuTerGlnLeuCysSerHisTerGlyProLeuThrCysPheProSerPheLeuIleAspLeuProLeuCysGlnGlyThrThrLeuHisTerArgGlyGlyAspLeuGlnArgAlaHisProValGlyArgGlyProSerLeuGluGlyTrpLeuHisCysHisThrGlnProArgLeuGlnTerGlnTrpHisValHisLeuTerArgGlnLysProSerArgHisSerGlyGlnAspLeuSerGlyHisAlaValCysLeuTerLysArgCysGluLysGlyTrpGlyGlnGlyTyrGlyLysGlnPheGlyArgGlySerGlyArgThrAspArgLeuGlyGluGluAlaLysSerProAlaTerGlyProLeuPheArgLeuTrpGluArgGlyGlnLysAlaValLeuAlaGlySerProThrSerSerMetGlnGlyIleHisSerAspTerGluProGlnIleGlnGlyProAlaHisSerProThrSerPheProThrProProSerAlaAsnTerValArgGlyArgSerGlySerCysAspArgGlyCysProArgGlyGlyAlaValAlaAlaAlaAlaPheLeuArgGlySerValLeuLeuAlaThrGlnAlaGlyGlyProAlaGluGluAlaGlnValArgGlyGlyAlaTerLeuProSerProSerProHisTyrProProSerGlyArgArgLeuLeuGlnTrpValGlyGlyProArgGlyArgGlySerCysValArgGlyAlaArgGlySerGlyGluAlaLysArgThrAlaValSerLeuLeuAlaValLeuTrpArgArgGlyAsnCysThrSerGlnGluArgThrArgArgSerAlaGlyGlyArgLeuAlaGlyLeuGlyAlaTerThrArgTrpGluGlyGluProTrpGluProProGlySerSerGluGlyTrpAspGlyAsnSerGlnAlaProValAlaArgTerLeuMetCysAlaProLeuProGlnThrProValLeuTyrAlaMetLeuAspHisSerArgSerThrLysAlaValSerGluLysLysAlaLysGlyLeuGlyGluSerArgLysAspLysLysTerArgLeuAlaGlyArgAlaGlyAspArgGlyLeuGlyValGluSerAlaLysGlyProLysValMetVal) variant causes a stop gained, disruptive inframe insertion 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 NM_001315491.2 stop_gained, disruptive_inframe_insertion
• 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: Laboratory for Molecular Medicine, Labcorp Genetics (formerly Invitae), 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: Likely_pathogenic. The variant received 6 ACMG points.

• PVS1: Loss of function variant, product does not undergo nonsense mediated mRNA decay. Variant is located in the 3'-most exon, not predicted to undergo nonsense mediated mRNA decay. Fraction of 0.132 CDS is truncated, and there are 1 pathogenic variants in the truncated region.
• 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 VariationId is 243058.Status of the report is criteria_provided_single_submitter, 1 stars.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001315491.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MPZ	NM_000530.8	MANE Select	c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT		3_prime_UTR	Exon 6 of 6	NP_000521.2	P25189-1
	MPZ	NM_001315491.2		c.815_816insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT	p.Val272_Ile273insGlyThrProArgSerValProGlyProProLeuSerGlnProHisArgCysSerGlyProLeuProLeuProGlnLeuTrpLeuLeuGlyLeuProHisProAlaProAlaLeuSerTrpLeuCysCysSerSerLeuLeuTrpValSerGlyAlaThrLeuLeuTrpGluSerTrpAspSerGlyValSerGlnGlnSerProGlnProLeuLeuHisSerProLeuGlnProLysLysGluGlnAlaGlyAlaGlyArgTerHisTyrIleGlnLysGluLysIleCysGlyTrpAlaTrpTrpLeuMetProValIleProAlaLeuTrpGluAlaLysValGlyTerLeuPheGluProGlnGluLeuGluThrSerLeuAspAsnIleThrArgLeuHisLeuTerAsnSerLysLysLysLysIleTyrIleTyrIleTyrGluLysLysLysIleCysIleTerArgGluGluValGluValLeuPheTerLysLysGlyTerLysArgValTerGlnAlaSerLeuSerGlyGlyHisGlyTrpThrGlnValGlyAsnSerSerMetProProGluProCysTerGlnProGlyGlyLysGlnCysTerIleThrTerArgAsnArgLeuLysHisLeuGlyLeuValProThrArgProLeuAlaValGlnGluValProTerProTerPheProArgArgLysLysArgValArgSerLysTerGlyAlaGlnValCysGlyLeuSerSerSerAspPheLeuSerLeuTyrGlySerSerProValValTrpValAsnGlyValArgPheTyrGluIleLeuGlySerTyrProSerLysAlaValPheLeuHisLysLeuThrSerProPheLeuAlaProTrpGlnMetLeuGlyGluTerGluValLysAlaGlyLeuLeuGluTrpProLeuProPheSerGluLeuProTerIleLeuValGlnTerValSerHisArgGlnValGlyValValGlyArgThrSerArgGluArgGlyLeuAlaArgMetProArgValLeuCysCysGlnLeuLeuGluProTerThrLeuLeuGlyCysThrGlyLeuPheGlyGlyThrLeuArgLysCysTerArgTerArgValGlyGluGlyHisSerGluGlyAsnArgGlyLysGluSerTerCysIleArgLysArgGluSerCysValSerThrLeuValProLeuIleGluProLeuSerThrAlaGluLysGlyAsnGlyTerTyrCysAsnArgArgAsnArgSerTerSerGlnTerIleIleSerLeuValLysGlnGlyGlyPheProArgArgPheTerGlyGlySerSerArgArgTerValHisGlyIleAlaCysTerGlyGluArgPheArgThrValGlyValGlyValGlyValAlaTerAlaProGlnArgTrpSerAspAsnGlyThrLeuPheGlyCysHisLeuProLeuLeuTerAsnLysLysValTyrSerCysProSerLeuGlyProAlaHisThrHisSerLeuSerGlyMetThrPheLeuValTrpValSerLeuGlyAspGlyThrGlyProGlnTrpProArgGlyArgTerGlyGlnLeuAsnHisArgGlyLeuThrCysArgValIleTerAlaValGlyLeuGlyCysCysSerAlaProSerTerGluGlyTyrGluAlaLeuProPheLeuThrLeuGlnSerArgAlaSerCysMetAlaThrArgAspSerAlaMetArgThrValValProGlyLysLysThrTyrIlePheTerLeuSerSerPhePheSerAlaArgAsnLeuSerLeuLeuTyrCysGluIleGlnCysSerCysTerAsnLysIleAspIleTyrGluSerThrGlyLysAlaProProAspThrTerValLeuLysGlnLysAspThrArgIleGlnCysAsnMetTyrValGluLysLysThrProGlnAsnTyrLeuLeuTerValCysValTyrLeuGluPheIleGluPheIleLeuSerLeuIleHisIleLysTrpIleThrCysTyrIleLeuGluGlyAsnThrGlyLysGluPheValGlyLeuSerValLysGlyAspPheCysPheIleSerIleAlaTerIleValTyrLysLysSerThrIleCysIleThrCysIleIleTyrAsnLysPheTerLysPheArgThrLeuHisLeuLysAspSerLeuLysValArgTyrTerProLysGlyGluValArgLeuLysAspArgThrGlnSerLeuGluValLeuLysArgIleLeuLeuLeuLeuIleSerSerSerLeuGlnThrCysTerArgAlaTerGlnThrGlnHisLeuCysSerSerValGlnLeuValProArgAspLeuGlyLeuArgIleCysCysPhePheSerLysLeuAlaSerAspLeuTerLeuSerThrTerPheProThrAspLeuThrSerSerValSerLeuThrGlyProIleGlyAlaSerAspSerProLeuCysAlaCysSerAlaValProGlyProGlyHisArgGlyLeuHisArgGlnGlyGlyProTrpCysCysGlyLeuProGlyAspProAlaLeuLeuLeuLeuValGlnTerValGlyLeuArgTerHisLeuLeuHisLeuAlaLeuProAlaArgArgGlyGlnArgCysHisPheGlyGluCysLeuGlyGluSerTrpGlyTrpIleThrGluSerAlaSerLysAsnAsnLysLysAspAsnLeuGlyTerGlyGlyGlyAsnProPheTerAlaIleThrProThrLeuAlaArgTerMetThrValPheValThrLeuThrThrLeuSerSerLeuLeuGlnHisTyrProPheGlnProLysIleProTyrProGluAlaGlyAlaLysLeuPhePhePhePhePhePhePheCysPhePheLeuSerValThrAsnTyrGlyAlaLysLeuTerGlnLeuCysSerHisTerGlyProLeuThrCysPheProSerPheLeuIleAspLeuProLeuCysGlnGlyThrThrLeuHisTerArgGlyGlyAspLeuGlnArgAlaHisProValGlyArgGlyProSerLeuGluGlyTrpLeuHisCysHisThrGlnProArgLeuGlnTerGlnTrpHisValHisLeuTerArgGlnLysProSerArgHisSerGlyGlnAspLeuSerGlyHisAlaValCysLeuTerLysArgCysGluLysGlyTrpGlyGlnGlyTyrGlyLysGlnPheGlyArgGlySerGlyArgThrAspArgLeuGlyGluGluAlaLysSerProAlaTerGlyProLeuPheArgLeuTrpGluArgGlyGlnLysAlaValLeuAlaGlySerProThrSerSerMetGlnGlyIleHisSerAspTerGluProGlnIleGlnGlyProAlaHisSerProThrSerPheProThrProProSerAlaAsnTerValArgGlyArgSerGlySerCysAspArgGlyCysProArgGlyGlyAlaValAlaAlaAlaAlaPheLeuArgGlySerValLeuLeuAlaThrGlnAlaGlyGlyProAlaGluGluAlaGlnValArgGlyGlyAlaTerLeuProSerProSerProHisTyrProProSerGlyArgArgLeuLeuGlnTrpValGlyGlyProArgGlyArgGlySerCysValArgGlyAlaArgGlySerGlyGluAlaLysArgThrAlaValSerLeuLeuAlaValLeuTrpArgArgGlyAsnCysThrSerGlnGluArgThrArgArgSerAlaGlyGlyArgLeuAlaGlyLeuGlyAlaTerThrArgTrpGluGlyGluProTrpGluProProGlySerSerGluGlyTrpAspGlyAsnSerGlnAlaProValAlaArgTerLeuMetCysAlaProLeuProGlnThrProValLeuTyrAlaMetLeuAspHisSerArgSerThrLysAlaValSerGluLysLysAlaLysGlyLeuGlyGluSerArgLysAspLysLysTerArgLeuAlaGlyArgAlaGlyAspArgGlyLeuGlyValGluSerAlaLysGlyProLysValMetVal	stop_gained disruptive_inframe_insertion	Exon 6 of 6	NP_001302420.1	A0A5F9ZI26

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MPZ	ENST00000533357.5	TSL:1 MANE Select	c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT		3_prime_UTR	Exon 6 of 6	ENSP00000432943.1	P25189-1
	MPZ	ENST00000463290.5	TSL:1	n.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT		non_coding_transcript_exon	Exon 6 of 7	ENSP00000431538.1	P25189-1
	MPZ	ENST00000463290.5	TSL:1	n.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT		3_prime_UTR	Exon 6 of 7	ENSP00000431538.1	P25189-1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 13

GnomAD4 genome Cov.: 31

ClinVar

ClinVar submissions

Significance: Likely pathogenic

Revision: criteria provided, single submitter

Pathogenic	VUS	Benign	Condition
1	-	-	Charcot-Marie-Tooth disease type 1B (1)

Computational scores

Source: dbNSFP v4.9

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;