Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.75914121_75914129delCA568152449MYO6c.3402_3410del (p.Gln1135_Arg1137del)
c.3498_3506del (p.Gln1167_Arg1169del)
c.3429_3437del (p.Gln1144_Arg1146del)
c.3525_3533del (p.Gln1176_Arg1178del)
c.*1509_*1517del (n.*1509_*1517del)
n.1664_1672del
c.3528_3536del (p.Gln1177_Arg1179del)
c.3486_3494del (p.Gln1163_Arg1165del)
c.3471_3479del (p.Gln1158_Arg1160del)
c.3459_3467del (p.Gln1154_Arg1156del)
c.3432_3440del (p.Gln1145_Arg1147del)
c.3414_3422del (p.Gln1139_Arg1141del)
n.3727_3735del
 dbSNP gnomAD v2 gnomAD v4
6g.75914123_75914128dupCA2739289901MYO6c.3404_3409dup (p.Gln1136_Arg1137insGlnGln)
c.3500_3505dup (p.Gln1168_Arg1169insGlnGln)
c.3431_3436dup (p.Gln1145_Arg1146insGlnGln)
c.3527_3532dup (p.Gln1177_Arg1178insGlnGln)
c.*1511_*1516dup (n.*1511_*1516dup)
n.1666_1671dup
c.3530_3535dup (p.Gln1178_Arg1179insGlnGln)
c.3488_3493dup (p.Gln1164_Arg1165insGlnGln)
c.3473_3478dup (p.Gln1159_Arg1160insGlnGln)
c.3461_3466dup (p.Gln1155_Arg1156insGlnGln)
c.3434_3439dup (p.Gln1146_Arg1147insGlnGln)
c.3416_3421dup (p.Gln1140_Arg1141insGlnGln)
n.3729_3734dup
6g.75914127A>CCA364761453MYO6c.3408A>C (p.Gln1136His)
c.3504A>C (p.Gln1168His)
c.3435A>C (p.Gln1145His)
c.3531A>C (p.Gln1177His)
c.*1515A>C (n.*1515A>C)
n.1670A>C
c.3534A>C (p.Gln1178His)
c.3492A>C (p.Gln1164His)
c.3477A>C (p.Gln1159His)
c.3465A>C (p.Gln1155His)
c.3438A>C (p.Gln1146His)
c.3420A>C (p.Gln1140His)
n.3733A>C
6g.75914127A>GCA3897746MYO6c.3408A>G (p.Gln1136=)
c.3504A>G (p.Gln1168=)
c.3435A>G (p.Gln1145=)
c.3531A>G (p.Gln1177=)
c.*1515A>G (n.*1515A>G)
n.1670A>G
c.3534A>G (p.Gln1178=)
c.3492A>G (p.Gln1164=)
c.3477A>G (p.Gln1159=)
c.3465A>G (p.Gln1155=)
c.3438A>G (p.Gln1146=)
c.3420A>G (p.Gln1140=)
n.3733A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914127A>TCA364761466MYO6c.3408A>T (p.Gln1136His)
c.3504A>T (p.Gln1168His)
c.3435A>T (p.Gln1145His)
c.3531A>T (p.Gln1177His)
c.*1515A>T (n.*1515A>T)
n.1670A>T
c.3534A>T (p.Gln1178His)
c.3492A>T (p.Gln1164His)
c.3477A>T (p.Gln1159His)
c.3465A>T (p.Gln1155His)
c.3438A>T (p.Gln1146His)
c.3420A>T (p.Gln1140His)
n.3733A>T
6g.75914128C>ACA364761471MYO6c.3409C>A (p.Arg1137Ser)
c.3505C>A (p.Arg1169Ser)
c.3436C>A (p.Arg1146Ser)
c.3532C>A (p.Arg1178Ser)
c.*1516C>A (n.*1516C>A)
n.1671C>A
c.3535C>A (p.Arg1179Ser)
c.3493C>A (p.Arg1165Ser)
c.3478C>A (p.Arg1160Ser)
c.3466C>A (p.Arg1156Ser)
c.3439C>A (p.Arg1147Ser)
c.3421C>A (p.Arg1141Ser)
n.3734C>A
 gnomAD v4
6g.75914128C>GCA364761472MYO6c.3409C>G (p.Arg1137Gly)
c.3505C>G (p.Arg1169Gly)
c.3436C>G (p.Arg1146Gly)
c.3532C>G (p.Arg1178Gly)
c.*1516C>G (n.*1516C>G)
n.1671C>G
c.3535C>G (p.Arg1179Gly)
c.3493C>G (p.Arg1165Gly)
c.3478C>G (p.Arg1160Gly)
c.3466C>G (p.Arg1156Gly)
c.3439C>G (p.Arg1147Gly)
c.3421C>G (p.Arg1141Gly)
n.3734C>G
6g.75914128C>TCA177362MYO6c.3409C>T (p.Arg1137Cys)
c.3505C>T (p.Arg1169Cys)
c.3436C>T (p.Arg1146Cys)
c.3532C>T (p.Arg1178Cys)
c.*1516C>T (n.*1516C>T)
n.1671C>T
c.3535C>T (p.Arg1179Cys)
c.3493C>T (p.Arg1165Cys)
c.3478C>T (p.Arg1160Cys)
c.3466C>T (p.Arg1156Cys)
c.3439C>T (p.Arg1147Cys)
c.3421C>T (p.Arg1141Cys)
n.3734C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914129G>ACA3897747MYO6c.3410G>A (p.Arg1137His)
c.3506G>A (p.Arg1169His)
c.3437G>A (p.Arg1146His)
c.3533G>A (p.Arg1178His)
c.*1517G>A (n.*1517G>A)
n.1672G>A
c.3536G>A (p.Arg1179His)
c.3494G>A (p.Arg1165His)
c.3479G>A (p.Arg1160His)
c.3467G>A (p.Arg1156His)
c.3440G>A (p.Arg1147His)
c.3422G>A (p.Arg1141His)
n.3735G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.75914129G>CCA364761475MYO6c.3410G>C (p.Arg1137Pro)
c.3506G>C (p.Arg1169Pro)
c.3437G>C (p.Arg1146Pro)
c.3533G>C (p.Arg1178Pro)
c.*1517G>C (n.*1517G>C)
n.1672G>C
c.3536G>C (p.Arg1179Pro)
c.3494G>C (p.Arg1165Pro)
c.3479G>C (p.Arg1160Pro)
c.3467G>C (p.Arg1156Pro)
c.3440G>C (p.Arg1147Pro)
c.3422G>C (p.Arg1141Pro)
n.3735G>C
6g.75914129G>TCA364761474MYO6c.3410G>T (p.Arg1137Leu)
c.3506G>T (p.Arg1169Leu)
c.3437G>T (p.Arg1146Leu)
c.3533G>T (p.Arg1178Leu)
c.*1517G>T (n.*1517G>T)
n.1672G>T
c.3536G>T (p.Arg1179Leu)
c.3494G>T (p.Arg1165Leu)
c.3479G>T (p.Arg1160Leu)
c.3467G>T (p.Arg1156Leu)
c.3440G>T (p.Arg1147Leu)
c.3422G>T (p.Arg1141Leu)
n.3735G>T
 ClinVar
6g.75914130C>ACA450938505MYO6c.3411C>A (p.Arg1137=)
c.3507C>A (p.Arg1169=)
c.3438C>A (p.Arg1146=)
c.3534C>A (p.Arg1178=)
c.*1518C>A (n.*1518C>A)
n.1673C>A
c.3537C>A (p.Arg1179=)
c.3495C>A (p.Arg1165=)
c.3480C>A (p.Arg1160=)
c.3468C>A (p.Arg1156=)
c.3441C>A (p.Arg1147=)
c.3423C>A (p.Arg1141=)
n.3736C>A
 dbSNP
6g.75914130C>GCA450938506MYO6c.3411C>G (p.Arg1137=)
c.3507C>G (p.Arg1169=)
c.3438C>G (p.Arg1146=)
c.3534C>G (p.Arg1178=)
c.*1518C>G (n.*1518C>G)
n.1673C>G
c.3537C>G (p.Arg1179=)
c.3495C>G (p.Arg1165=)
c.3480C>G (p.Arg1160=)
c.3468C>G (p.Arg1156=)
c.3441C>G (p.Arg1147=)
c.3423C>G (p.Arg1141=)
n.3736C>G
6g.75914130C>TCA450938507MYO6c.3411C>T (p.Arg1137=)
c.3507C>T (p.Arg1169=)
c.3438C>T (p.Arg1146=)
c.3534C>T (p.Arg1178=)
c.*1518C>T (n.*1518C>T)
n.1673C>T
c.3537C>T (p.Arg1179=)
c.3495C>T (p.Arg1165=)
c.3480C>T (p.Arg1160=)
c.3468C>T (p.Arg1156=)
c.3441C>T (p.Arg1147=)
c.3423C>T (p.Arg1141=)
n.3736C>T
6g.75914131T>ACA364761477MYO6c.3412T>A (p.Phe1138Ile)
c.3508T>A (p.Phe1170Ile)
c.3439T>A (p.Phe1147Ile)
c.3535T>A (p.Phe1179Ile)
c.*1519T>A (n.*1519T>A)
n.1674T>A
c.3538T>A (p.Phe1180Ile)
c.3496T>A (p.Phe1166Ile)
c.3481T>A (p.Phe1161Ile)
c.3469T>A (p.Phe1157Ile)
c.3442T>A (p.Phe1148Ile)
c.3424T>A (p.Phe1142Ile)
n.3737T>A
6g.75914131T>CCA364761479MYO6c.3412T>C (p.Phe1138Leu)
c.3508T>C (p.Phe1170Leu)
c.3439T>C (p.Phe1147Leu)
c.3535T>C (p.Phe1179Leu)
c.*1519T>C (n.*1519T>C)
n.1674T>C
c.3538T>C (p.Phe1180Leu)
c.3496T>C (p.Phe1166Leu)
c.3481T>C (p.Phe1161Leu)
c.3469T>C (p.Phe1157Leu)
c.3442T>C (p.Phe1148Leu)
c.3424T>C (p.Phe1142Leu)
n.3737T>C
6g.75914131T>GCA364761478MYO6c.3412T>G (p.Phe1138Val)
c.3508T>G (p.Phe1170Val)
c.3439T>G (p.Phe1147Val)
c.3535T>G (p.Phe1179Val)
c.*1519T>G (n.*1519T>G)
n.1674T>G
c.3538T>G (p.Phe1180Val)
c.3496T>G (p.Phe1166Val)
c.3481T>G (p.Phe1161Val)
c.3469T>G (p.Phe1157Val)
c.3442T>G (p.Phe1148Val)
c.3424T>G (p.Phe1142Val)
n.3737T>G
6g.75914132T>ACA364761480MYO6c.3413T>A (p.Phe1138Tyr)
c.3509T>A (p.Phe1170Tyr)
c.3440T>A (p.Phe1147Tyr)
c.3536T>A (p.Phe1179Tyr)
c.*1520T>A (n.*1520T>A)
n.1675T>A
c.3539T>A (p.Phe1180Tyr)
c.3497T>A (p.Phe1166Tyr)
c.3482T>A (p.Phe1161Tyr)
c.3470T>A (p.Phe1157Tyr)
c.3443T>A (p.Phe1148Tyr)
c.3425T>A (p.Phe1142Tyr)
n.3738T>A
6g.75914132T>CCA364761485MYO6c.3413T>C (p.Phe1138Ser)
c.3509T>C (p.Phe1170Ser)
c.3440T>C (p.Phe1147Ser)
c.3536T>C (p.Phe1179Ser)
c.*1520T>C (n.*1520T>C)
n.1675T>C
c.3539T>C (p.Phe1180Ser)
c.3497T>C (p.Phe1166Ser)
c.3482T>C (p.Phe1161Ser)
c.3470T>C (p.Phe1157Ser)
c.3443T>C (p.Phe1148Ser)
c.3425T>C (p.Phe1142Ser)
n.3738T>C
6g.75914132T>GCA364761482MYO6c.3413T>G (p.Phe1138Cys)
c.3509T>G (p.Phe1170Cys)
c.3440T>G (p.Phe1147Cys)
c.3536T>G (p.Phe1179Cys)
c.*1520T>G (n.*1520T>G)
n.1675T>G
c.3539T>G (p.Phe1180Cys)
c.3497T>G (p.Phe1166Cys)
c.3482T>G (p.Phe1161Cys)
c.3470T>G (p.Phe1157Cys)
c.3443T>G (p.Phe1148Cys)
c.3425T>G (p.Phe1142Cys)
n.3738T>G
 dbSNP gnomAD v4
6g.75914133C>ACA364761488MYO6c.3414C>A (p.Phe1138Leu)
c.3510C>A (p.Phe1170Leu)
c.3441C>A (p.Phe1147Leu)
c.3537C>A (p.Phe1179Leu)
c.*1521C>A (n.*1521C>A)
n.1676C>A
c.3540C>A (p.Phe1180Leu)
c.3498C>A (p.Phe1166Leu)
c.3483C>A (p.Phe1161Leu)
c.3471C>A (p.Phe1157Leu)
c.3444C>A (p.Phe1148Leu)
c.3426C>A (p.Phe1142Leu)
n.3739C>A
 COSMIC COSMIC
6g.75914133C>GCA364761489MYO6c.3414C>G (p.Phe1138Leu)
c.3510C>G (p.Phe1170Leu)
c.3441C>G (p.Phe1147Leu)
c.3537C>G (p.Phe1179Leu)
c.*1521C>G (n.*1521C>G)
n.1676C>G
c.3540C>G (p.Phe1180Leu)
c.3498C>G (p.Phe1166Leu)
c.3483C>G (p.Phe1161Leu)
c.3471C>G (p.Phe1157Leu)
c.3444C>G (p.Phe1148Leu)
c.3426C>G (p.Phe1142Leu)
n.3739C>G
6g.75914133C>TCA450938508MYO6c.3414C>T (p.Phe1138=)
c.3510C>T (p.Phe1170=)
c.3441C>T (p.Phe1147=)
c.3537C>T (p.Phe1179=)
c.*1521C>T (n.*1521C>T)
n.1676C>T
c.3540C>T (p.Phe1180=)
c.3498C>T (p.Phe1166=)
c.3483C>T (p.Phe1161=)
c.3471C>T (p.Phe1157=)
c.3444C>T (p.Phe1148=)
c.3426C>T (p.Phe1142=)
n.3739C>T
6g.75914134T>ACA364761492MYO6c.3415T>A (p.Phe1139Ile)
c.3511T>A (p.Phe1171Ile)
c.3442T>A (p.Phe1148Ile)
c.3538T>A (p.Phe1180Ile)
c.*1522T>A (n.*1522T>A)
n.1677T>A
c.3541T>A (p.Phe1181Ile)
c.3499T>A (p.Phe1167Ile)
c.3484T>A (p.Phe1162Ile)
c.3472T>A (p.Phe1158Ile)
c.3445T>A (p.Phe1149Ile)
c.3427T>A (p.Phe1143Ile)
n.3740T>A
6g.75914134T>CCA364761494MYO6c.3415T>C (p.Phe1139Leu)
c.3511T>C (p.Phe1171Leu)
c.3442T>C (p.Phe1148Leu)
c.3538T>C (p.Phe1180Leu)
c.*1522T>C (n.*1522T>C)
n.1677T>C
c.3541T>C (p.Phe1181Leu)
c.3499T>C (p.Phe1167Leu)
c.3484T>C (p.Phe1162Leu)
c.3472T>C (p.Phe1158Leu)
c.3445T>C (p.Phe1149Leu)
c.3427T>C (p.Phe1143Leu)
n.3740T>C
6g.75914134T>GCA364761497MYO6c.3415T>G (p.Phe1139Val)
c.3511T>G (p.Phe1171Val)
c.3442T>G (p.Phe1148Val)
c.3538T>G (p.Phe1180Val)
c.*1522T>G (n.*1522T>G)
n.1677T>G
c.3541T>G (p.Phe1181Val)
c.3499T>G (p.Phe1167Val)
c.3484T>G (p.Phe1162Val)
c.3472T>G (p.Phe1158Val)
c.3445T>G (p.Phe1149Val)
c.3427T>G (p.Phe1143Val)
n.3740T>G
6g.75914135T>ACA364761503MYO6c.3416T>A (p.Phe1139Tyr)
c.3512T>A (p.Phe1171Tyr)
c.3443T>A (p.Phe1148Tyr)
c.3539T>A (p.Phe1180Tyr)
c.*1523T>A (n.*1523T>A)
n.1678T>A
c.3542T>A (p.Phe1181Tyr)
c.3500T>A (p.Phe1167Tyr)
c.3485T>A (p.Phe1162Tyr)
c.3473T>A (p.Phe1158Tyr)
c.3446T>A (p.Phe1149Tyr)
c.3428T>A (p.Phe1143Tyr)
n.3741T>A
6g.75914135T>CCA364761501MYO6c.3416T>C (p.Phe1139Ser)
c.3512T>C (p.Phe1171Ser)
c.3443T>C (p.Phe1148Ser)
c.3539T>C (p.Phe1180Ser)
c.*1523T>C (n.*1523T>C)
n.1678T>C
c.3542T>C (p.Phe1181Ser)
c.3500T>C (p.Phe1167Ser)
c.3485T>C (p.Phe1162Ser)
c.3473T>C (p.Phe1158Ser)
c.3446T>C (p.Phe1149Ser)
c.3428T>C (p.Phe1143Ser)
n.3741T>C
6g.75914135T>GCA364761499MYO6c.3416T>G (p.Phe1139Cys)
c.3512T>G (p.Phe1171Cys)
c.3443T>G (p.Phe1148Cys)
c.3539T>G (p.Phe1180Cys)
c.*1523T>G (n.*1523T>G)
n.1678T>G
c.3542T>G (p.Phe1181Cys)
c.3500T>G (p.Phe1167Cys)
c.3485T>G (p.Phe1162Cys)
c.3473T>G (p.Phe1158Cys)
c.3446T>G (p.Phe1149Cys)
c.3428T>G (p.Phe1143Cys)
n.3741T>G
6g.75914136C>ACA364761506MYO6c.3417C>A (p.Phe1139Leu)
c.3513C>A (p.Phe1171Leu)
c.3444C>A (p.Phe1148Leu)
c.3540C>A (p.Phe1180Leu)
c.*1524C>A (n.*1524C>A)
n.1679C>A
c.3543C>A (p.Phe1181Leu)
c.3501C>A (p.Phe1167Leu)
c.3486C>A (p.Phe1162Leu)
c.3474C>A (p.Phe1158Leu)
c.3447C>A (p.Phe1149Leu)
c.3429C>A (p.Phe1143Leu)
n.3742C>A
6g.75914136C>GCA364761509MYO6c.3417C>G (p.Phe1139Leu)
c.3513C>G (p.Phe1171Leu)
c.3444C>G (p.Phe1148Leu)
c.3540C>G (p.Phe1180Leu)
c.*1524C>G (n.*1524C>G)
n.1679C>G
c.3543C>G (p.Phe1181Leu)
c.3501C>G (p.Phe1167Leu)
c.3486C>G (p.Phe1162Leu)
c.3474C>G (p.Phe1158Leu)
c.3447C>G (p.Phe1149Leu)
c.3429C>G (p.Phe1143Leu)
n.3742C>G
 gnomAD v4
6g.75914136C>TCA3897748MYO6c.3417C>T (p.Phe1139=)
c.3513C>T (p.Phe1171=)
c.3444C>T (p.Phe1148=)
c.3540C>T (p.Phe1180=)
c.*1524C>T (n.*1524C>T)
n.1679C>T
c.3543C>T (p.Phe1181=)
c.3501C>T (p.Phe1167=)
c.3486C>T (p.Phe1162=)
c.3474C>T (p.Phe1158=)
c.3447C>T (p.Phe1149=)
c.3429C>T (p.Phe1143=)
n.3742C>T
 dbSNP ExAC gnomAD v2
6g.75914137C>ACA364761511MYO6c.3418C>A (p.Arg1140Ser)
c.3514C>A (p.Arg1172Ser)
c.3445C>A (p.Arg1149Ser)
c.3541C>A (p.Arg1181Ser)
c.*1525C>A (n.*1525C>A)
n.1680C>A
c.3544C>A (p.Arg1182Ser)
c.3502C>A (p.Arg1168Ser)
c.3487C>A (p.Arg1163Ser)
c.3475C>A (p.Arg1159Ser)
c.3448C>A (p.Arg1150Ser)
c.3430C>A (p.Arg1144Ser)
n.3743C>A
6g.75914137C>GCA141060174MYO6c.3418C>G (p.Arg1140Gly)
c.3514C>G (p.Arg1172Gly)
c.3445C>G (p.Arg1149Gly)
c.3541C>G (p.Arg1181Gly)
c.*1525C>G (n.*1525C>G)
n.1680C>G
c.3544C>G (p.Arg1182Gly)
c.3502C>G (p.Arg1168Gly)
c.3487C>G (p.Arg1163Gly)
c.3475C>G (p.Arg1159Gly)
c.3448C>G (p.Arg1150Gly)
c.3430C>G (p.Arg1144Gly)
n.3743C>G
 dbSNP gnomAD v4
6g.75914137C>TCA3897749MYO6c.3418C>T (p.Arg1140Cys)
c.3514C>T (p.Arg1172Cys)
c.3445C>T (p.Arg1149Cys)
c.3541C>T (p.Arg1181Cys)
c.*1525C>T (n.*1525C>T)
n.1680C>T
c.3544C>T (p.Arg1182Cys)
c.3502C>T (p.Arg1168Cys)
c.3487C>T (p.Arg1163Cys)
c.3475C>T (p.Arg1159Cys)
c.3448C>T (p.Arg1150Cys)
c.3430C>T (p.Arg1144Cys)
n.3743C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914138G>ACA3897750MYO6c.3419G>A (p.Arg1140His)
c.3515G>A (p.Arg1172His)
c.3446G>A (p.Arg1149His)
c.3542G>A (p.Arg1181His)
c.*1526G>A (n.*1526G>A)
n.1681G>A
c.3545G>A (p.Arg1182His)
c.3503G>A (p.Arg1168His)
c.3488G>A (p.Arg1163His)
c.3476G>A (p.Arg1159His)
c.3449G>A (p.Arg1150His)
c.3431G>A (p.Arg1144His)
n.3744G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914138G>CCA364761514MYO6c.3419G>C (p.Arg1140Pro)
c.3515G>C (p.Arg1172Pro)
c.3446G>C (p.Arg1149Pro)
c.3542G>C (p.Arg1181Pro)
c.*1526G>C (n.*1526G>C)
n.1681G>C
c.3545G>C (p.Arg1182Pro)
c.3503G>C (p.Arg1168Pro)
c.3488G>C (p.Arg1163Pro)
c.3476G>C (p.Arg1159Pro)
c.3449G>C (p.Arg1150Pro)
c.3431G>C (p.Arg1144Pro)
n.3744G>C
6g.75914138G>TCA364761512MYO6c.3419G>T (p.Arg1140Leu)
c.3515G>T (p.Arg1172Leu)
c.3446G>T (p.Arg1149Leu)
c.3542G>T (p.Arg1181Leu)
c.*1526G>T (n.*1526G>T)
n.1681G>T
c.3545G>T (p.Arg1182Leu)
c.3503G>T (p.Arg1168Leu)
c.3488G>T (p.Arg1163Leu)
c.3476G>T (p.Arg1159Leu)
c.3449G>T (p.Arg1150Leu)
c.3431G>T (p.Arg1144Leu)
n.3744G>T
6g.75914139C>ACA450938510MYO6c.3420C>A (p.Arg1140=)
c.3516C>A (p.Arg1172=)
c.3447C>A (p.Arg1149=)
c.3543C>A (p.Arg1181=)
c.*1527C>A (n.*1527C>A)
n.1682C>A
c.3546C>A (p.Arg1182=)
c.3504C>A (p.Arg1168=)
c.3489C>A (p.Arg1163=)
c.3477C>A (p.Arg1159=)
c.3450C>A (p.Arg1150=)
c.3432C>A (p.Arg1144=)
n.3745C>A
6g.75914139C>GCA450938511MYO6c.3420C>G (p.Arg1140=)
c.3516C>G (p.Arg1172=)
c.3447C>G (p.Arg1149=)
c.3543C>G (p.Arg1181=)
c.*1527C>G (n.*1527C>G)
n.1682C>G
c.3546C>G (p.Arg1182=)
c.3504C>G (p.Arg1168=)
c.3489C>G (p.Arg1163=)
c.3477C>G (p.Arg1159=)
c.3450C>G (p.Arg1150=)
c.3432C>G (p.Arg1144=)
n.3745C>G
6g.75914139C>TCA450938509MYO6c.3420C>T (p.Arg1140=)
c.3516C>T (p.Arg1172=)
c.3447C>T (p.Arg1149=)
c.3543C>T (p.Arg1181=)
c.*1527C>T (n.*1527C>T)
n.1682C>T
c.3546C>T (p.Arg1182=)
c.3504C>T (p.Arg1168=)
c.3489C>T (p.Arg1163=)
c.3477C>T (p.Arg1159=)
c.3450C>T (p.Arg1150=)
c.3432C>T (p.Arg1144=)
n.3745C>T
 dbSNP
6g.75914144_75914152delCA3897751MYO6c.3425_3433del (p.Pro1142_Ile1144del)
c.3521_3529del (p.Pro1174_Ile1176del)
c.3452_3460del (p.Pro1151_Ile1153del)
c.3548_3556del (p.Pro1183_Ile1185del)
c.*1532_*1540del (n.*1532_*1540del)
n.1687_1695del
c.3551_3559del (p.Pro1184_Ile1186del)
c.3509_3517del (p.Pro1170_Ile1172del)
c.3494_3502del (p.Pro1165_Ile1167del)
c.3482_3490del (p.Pro1161_Ile1163del)
c.3455_3463del (p.Pro1152_Ile1154del)
c.3437_3445del (p.Pro1146_Ile1148del)
n.3750_3758del
 dbSNP ExAC gnomAD v2
6g.75914140A>CCA364761527MYO6c.3421A>C (p.Ile1141Leu)
c.3517A>C (p.Ile1173Leu)
c.3448A>C (p.Ile1150Leu)
c.3544A>C (p.Ile1182Leu)
c.*1528A>C (n.*1528A>C)
n.1683A>C
c.3547A>C (p.Ile1183Leu)
c.3505A>C (p.Ile1169Leu)
c.3490A>C (p.Ile1164Leu)
c.3478A>C (p.Ile1160Leu)
c.3451A>C (p.Ile1151Leu)
c.3433A>C (p.Ile1145Leu)
n.3746A>C
6g.75914140A>GCA364761545MYO6c.3421A>G (p.Ile1141Val)
c.3517A>G (p.Ile1173Val)
c.3448A>G (p.Ile1150Val)
c.3544A>G (p.Ile1182Val)
c.*1528A>G (n.*1528A>G)
n.1683A>G
c.3547A>G (p.Ile1183Val)
c.3505A>G (p.Ile1169Val)
c.3490A>G (p.Ile1164Val)
c.3478A>G (p.Ile1160Val)
c.3451A>G (p.Ile1151Val)
c.3433A>G (p.Ile1145Val)
n.3746A>G
 dbSNP
6g.75914140A>TCA364761547MYO6c.3421A>T (p.Ile1141Phe)
c.3517A>T (p.Ile1173Phe)
c.3448A>T (p.Ile1150Phe)
c.3544A>T (p.Ile1182Phe)
c.*1528A>T (n.*1528A>T)
n.1683A>T
c.3547A>T (p.Ile1183Phe)
c.3505A>T (p.Ile1169Phe)
c.3490A>T (p.Ile1164Phe)
c.3478A>T (p.Ile1160Phe)
c.3451A>T (p.Ile1151Phe)
c.3433A>T (p.Ile1145Phe)
n.3746A>T
6g.75914141T>ACA364761551MYO6c.3422T>A (p.Ile1141Asn)
c.3518T>A (p.Ile1173Asn)
c.3449T>A (p.Ile1150Asn)
c.3545T>A (p.Ile1182Asn)
c.*1529T>A (n.*1529T>A)
n.1684T>A
c.3548T>A (p.Ile1183Asn)
c.3506T>A (p.Ile1169Asn)
c.3491T>A (p.Ile1164Asn)
c.3479T>A (p.Ile1160Asn)
c.3452T>A (p.Ile1151Asn)
c.3434T>A (p.Ile1145Asn)
n.3747T>A
6g.75914141T>CCA364761553MYO6c.3422T>C (p.Ile1141Thr)
c.3518T>C (p.Ile1173Thr)
c.3449T>C (p.Ile1150Thr)
c.3545T>C (p.Ile1182Thr)
c.*1529T>C (n.*1529T>C)
n.1684T>C
c.3548T>C (p.Ile1183Thr)
c.3506T>C (p.Ile1169Thr)
c.3491T>C (p.Ile1164Thr)
c.3479T>C (p.Ile1160Thr)
c.3452T>C (p.Ile1151Thr)
c.3434T>C (p.Ile1145Thr)
n.3747T>C
 ClinVar dbSNP
6g.75914141T>GCA364761556MYO6c.3422T>G (p.Ile1141Ser)
c.3518T>G (p.Ile1173Ser)
c.3449T>G (p.Ile1150Ser)
c.3545T>G (p.Ile1182Ser)
c.*1529T>G (n.*1529T>G)
n.1684T>G
c.3548T>G (p.Ile1183Ser)
c.3506T>G (p.Ile1169Ser)
c.3491T>G (p.Ile1164Ser)
c.3479T>G (p.Ile1160Ser)
c.3452T>G (p.Ile1151Ser)
c.3434T>G (p.Ile1145Ser)
n.3747T>G
6g.75914142C>ACA450938512MYO6c.3423C>A (p.Ile1141=)
c.3519C>A (p.Ile1173=)
c.3450C>A (p.Ile1150=)
c.3546C>A (p.Ile1182=)
c.*1530C>A (n.*1530C>A)
n.1685C>A
c.3549C>A (p.Ile1183=)
c.3507C>A (p.Ile1169=)
c.3492C>A (p.Ile1164=)
c.3480C>A (p.Ile1160=)
c.3453C>A (p.Ile1151=)
c.3435C>A (p.Ile1145=)
n.3748C>A
6g.75914142C>GCA364761559MYO6c.3423C>G (p.Ile1141Met)
c.3519C>G (p.Ile1173Met)
c.3450C>G (p.Ile1150Met)
c.3546C>G (p.Ile1182Met)
c.*1530C>G (n.*1530C>G)
n.1685C>G
c.3549C>G (p.Ile1183Met)
c.3507C>G (p.Ile1169Met)
c.3492C>G (p.Ile1164Met)
c.3480C>G (p.Ile1160Met)
c.3453C>G (p.Ile1151Met)
c.3435C>G (p.Ile1145Met)
n.3748C>G
6g.75914142C>TCA450938513MYO6c.3423C>T (p.Ile1141=)
c.3519C>T (p.Ile1173=)
c.3450C>T (p.Ile1150=)
c.3546C>T (p.Ile1182=)
c.*1530C>T (n.*1530C>T)
n.1685C>T
c.3549C>T (p.Ile1183=)
c.3507C>T (p.Ile1169=)
c.3492C>T (p.Ile1164=)
c.3480C>T (p.Ile1160=)
c.3453C>T (p.Ile1151=)
c.3435C>T (p.Ile1145=)
n.3748C>T
6g.75914143C>ACA364761560MYO6c.3424C>A (p.Pro1142Thr)
c.3520C>A (p.Pro1174Thr)
c.3451C>A (p.Pro1151Thr)
c.3547C>A (p.Pro1183Thr)
c.*1531C>A (n.*1531C>A)
n.1686C>A
c.3550C>A (p.Pro1184Thr)
c.3508C>A (p.Pro1170Thr)
c.3493C>A (p.Pro1165Thr)
c.3481C>A (p.Pro1161Thr)
c.3454C>A (p.Pro1152Thr)
c.3436C>A (p.Pro1146Thr)
n.3749C>A
6g.75914143C>GCA364761561MYO6c.3424C>G (p.Pro1142Ala)
c.3520C>G (p.Pro1174Ala)
c.3451C>G (p.Pro1151Ala)
c.3547C>G (p.Pro1183Ala)
c.*1531C>G (n.*1531C>G)
n.1686C>G
c.3550C>G (p.Pro1184Ala)
c.3508C>G (p.Pro1170Ala)
c.3493C>G (p.Pro1165Ala)
c.3481C>G (p.Pro1161Ala)
c.3454C>G (p.Pro1152Ala)
c.3436C>G (p.Pro1146Ala)
n.3749C>G
6g.75914143C>TCA141060202MYO6c.3424C>T (p.Pro1142Ser)
c.3520C>T (p.Pro1174Ser)
c.3451C>T (p.Pro1151Ser)
c.3547C>T (p.Pro1183Ser)
c.*1531C>T (n.*1531C>T)
n.1686C>T
c.3550C>T (p.Pro1184Ser)
c.3508C>T (p.Pro1170Ser)
c.3493C>T (p.Pro1165Ser)
c.3481C>T (p.Pro1161Ser)
c.3454C>T (p.Pro1152Ser)
c.3436C>T (p.Pro1146Ser)
n.3749C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.75914144C>ACA364761566MYO6c.3425C>A (p.Pro1142Gln)
c.3521C>A (p.Pro1174Gln)
c.3452C>A (p.Pro1151Gln)
c.3548C>A (p.Pro1183Gln)
c.*1532C>A (n.*1532C>A)
n.1687C>A
c.3551C>A (p.Pro1184Gln)
c.3509C>A (p.Pro1170Gln)
c.3494C>A (p.Pro1165Gln)
c.3482C>A (p.Pro1161Gln)
c.3455C>A (p.Pro1152Gln)
c.3437C>A (p.Pro1146Gln)
n.3750C>A
6g.75914144C>GCA364761571MYO6c.3425C>G (p.Pro1142Arg)
c.3521C>G (p.Pro1174Arg)
c.3452C>G (p.Pro1151Arg)
c.3548C>G (p.Pro1183Arg)
c.*1532C>G (n.*1532C>G)
n.1687C>G
c.3551C>G (p.Pro1184Arg)
c.3509C>G (p.Pro1170Arg)
c.3494C>G (p.Pro1165Arg)
c.3482C>G (p.Pro1161Arg)
c.3455C>G (p.Pro1152Arg)
c.3437C>G (p.Pro1146Arg)
n.3750C>G
6g.75914144C>TCA364761569MYO6c.3425C>T (p.Pro1142Leu)
c.3521C>T (p.Pro1174Leu)
c.3452C>T (p.Pro1151Leu)
c.3548C>T (p.Pro1183Leu)
c.*1532C>T (n.*1532C>T)
n.1687C>T
c.3551C>T (p.Pro1184Leu)
c.3509C>T (p.Pro1170Leu)
c.3494C>T (p.Pro1165Leu)
c.3482C>T (p.Pro1161Leu)
c.3455C>T (p.Pro1152Leu)
c.3437C>T (p.Pro1146Leu)
n.3750C>T
6g.75914145A>CCA450938514MYO6c.3426A>C (p.Pro1142=)
c.3522A>C (p.Pro1174=)
c.3453A>C (p.Pro1151=)
c.3549A>C (p.Pro1183=)
c.*1533A>C (n.*1533A>C)
n.1688A>C
c.3552A>C (p.Pro1184=)
c.3510A>C (p.Pro1170=)
c.3495A>C (p.Pro1165=)
c.3483A>C (p.Pro1161=)
c.3456A>C (p.Pro1152=)
c.3438A>C (p.Pro1146=)
n.3751A>C
6g.75914145A>GCA450938515MYO6c.3426A>G (p.Pro1142=)
c.3522A>G (p.Pro1174=)
c.3453A>G (p.Pro1151=)
c.3549A>G (p.Pro1183=)
c.*1533A>G (n.*1533A>G)
n.1688A>G
c.3552A>G (p.Pro1184=)
c.3510A>G (p.Pro1170=)
c.3495A>G (p.Pro1165=)
c.3483A>G (p.Pro1161=)
c.3456A>G (p.Pro1152=)
c.3438A>G (p.Pro1146=)
n.3751A>G
 gnomAD v4
6g.75914145A>TCA450938516MYO6c.3426A>T (p.Pro1142=)
c.3522A>T (p.Pro1174=)
c.3453A>T (p.Pro1151=)
c.3549A>T (p.Pro1183=)
c.*1533A>T (n.*1533A>T)
n.1688A>T
c.3552A>T (p.Pro1184=)
c.3510A>T (p.Pro1170=)
c.3495A>T (p.Pro1165=)
c.3483A>T (p.Pro1161=)
c.3456A>T (p.Pro1152=)
c.3438A>T (p.Pro1146=)
n.3751A>T
6g.75914146T>ACA364761574MYO6c.3427T>A (p.Phe1143Ile)
c.3523T>A (p.Phe1175Ile)
c.3454T>A (p.Phe1152Ile)
c.3550T>A (p.Phe1184Ile)
c.*1534T>A (n.*1534T>A)
n.1689T>A
c.3553T>A (p.Phe1185Ile)
c.3511T>A (p.Phe1171Ile)
c.3496T>A (p.Phe1166Ile)
c.3484T>A (p.Phe1162Ile)
c.3457T>A (p.Phe1153Ile)
c.3439T>A (p.Phe1147Ile)
n.3752T>A
6g.75914146T>CCA364761575MYO6c.3427T>C (p.Phe1143Leu)
c.3523T>C (p.Phe1175Leu)
c.3454T>C (p.Phe1152Leu)
c.3550T>C (p.Phe1184Leu)
c.*1534T>C (n.*1534T>C)
n.1689T>C
c.3553T>C (p.Phe1185Leu)
c.3511T>C (p.Phe1171Leu)
c.3496T>C (p.Phe1166Leu)
c.3484T>C (p.Phe1162Leu)
c.3457T>C (p.Phe1153Leu)
c.3439T>C (p.Phe1147Leu)
n.3752T>C
6g.75914146T>GCA364761576MYO6c.3427T>G (p.Phe1143Val)
c.3523T>G (p.Phe1175Val)
c.3454T>G (p.Phe1152Val)
c.3550T>G (p.Phe1184Val)
c.*1534T>G (n.*1534T>G)
n.1689T>G
c.3553T>G (p.Phe1185Val)
c.3511T>G (p.Phe1171Val)
c.3496T>G (p.Phe1166Val)
c.3484T>G (p.Phe1162Val)
c.3457T>G (p.Phe1153Val)
c.3439T>G (p.Phe1147Val)
n.3752T>G
6g.75914147T>ACA364761578MYO6c.3428T>A (p.Phe1143Tyr)
c.3524T>A (p.Phe1175Tyr)
c.3455T>A (p.Phe1152Tyr)
c.3551T>A (p.Phe1184Tyr)
c.*1535T>A (n.*1535T>A)
n.1690T>A
c.3554T>A (p.Phe1185Tyr)
c.3512T>A (p.Phe1171Tyr)
c.3497T>A (p.Phe1166Tyr)
c.3485T>A (p.Phe1162Tyr)
c.3458T>A (p.Phe1153Tyr)
c.3440T>A (p.Phe1147Tyr)
n.3753T>A
6g.75914147T>CCA364761581MYO6c.3428T>C (p.Phe1143Ser)
c.3524T>C (p.Phe1175Ser)
c.3455T>C (p.Phe1152Ser)
c.3551T>C (p.Phe1184Ser)
c.*1535T>C (n.*1535T>C)
n.1690T>C
c.3554T>C (p.Phe1185Ser)
c.3512T>C (p.Phe1171Ser)
c.3497T>C (p.Phe1166Ser)
c.3485T>C (p.Phe1162Ser)
c.3458T>C (p.Phe1153Ser)
c.3440T>C (p.Phe1147Ser)
n.3753T>C
 dbSNP gnomAD v2 gnomAD v4
6g.75914147T>GCA364761590MYO6c.3428T>G (p.Phe1143Cys)
c.3524T>G (p.Phe1175Cys)
c.3455T>G (p.Phe1152Cys)
c.3551T>G (p.Phe1184Cys)
c.*1535T>G (n.*1535T>G)
n.1690T>G
c.3554T>G (p.Phe1185Cys)
c.3512T>G (p.Phe1171Cys)
c.3497T>G (p.Phe1166Cys)
c.3485T>G (p.Phe1162Cys)
c.3458T>G (p.Phe1153Cys)
c.3440T>G (p.Phe1147Cys)
n.3753T>G
6g.75914148C>ACA364761591MYO6c.3429C>A (p.Phe1143Leu)
c.3525C>A (p.Phe1175Leu)
c.3456C>A (p.Phe1152Leu)
c.3552C>A (p.Phe1184Leu)
c.*1536C>A (n.*1536C>A)
n.1691C>A
c.3555C>A (p.Phe1185Leu)
c.3513C>A (p.Phe1171Leu)
c.3498C>A (p.Phe1166Leu)
c.3486C>A (p.Phe1162Leu)
c.3459C>A (p.Phe1153Leu)
c.3441C>A (p.Phe1147Leu)
n.3754C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.75914148C>GCA364761592MYO6c.3429C>G (p.Phe1143Leu)
c.3525C>G (p.Phe1175Leu)
c.3456C>G (p.Phe1152Leu)
c.3552C>G (p.Phe1184Leu)
c.*1536C>G (n.*1536C>G)
n.1691C>G
c.3555C>G (p.Phe1185Leu)
c.3513C>G (p.Phe1171Leu)
c.3498C>G (p.Phe1166Leu)
c.3486C>G (p.Phe1162Leu)
c.3459C>G (p.Phe1153Leu)
c.3441C>G (p.Phe1147Leu)
n.3754C>G
6g.75914148C>TCA450938517MYO6c.3429C>T (p.Phe1143=)
c.3525C>T (p.Phe1175=)
c.3456C>T (p.Phe1152=)
c.3552C>T (p.Phe1184=)
c.*1536C>T (n.*1536C>T)
n.1691C>T
c.3555C>T (p.Phe1185=)
c.3513C>T (p.Phe1171=)
c.3498C>T (p.Phe1166=)
c.3486C>T (p.Phe1162=)
c.3459C>T (p.Phe1153=)
c.3441C>T (p.Phe1147=)
n.3754C>T
6g.75914149A>CCA141060203MYO6c.3430A>C (p.Ile1144Leu)
c.3526A>C (p.Ile1176Leu)
c.3457A>C (p.Ile1153Leu)
c.3553A>C (p.Ile1185Leu)
c.*1537A>C (n.*1537A>C)
n.1692A>C
c.3556A>C (p.Ile1186Leu)
c.3514A>C (p.Ile1172Leu)
c.3499A>C (p.Ile1167Leu)
c.3487A>C (p.Ile1163Leu)
c.3460A>C (p.Ile1154Leu)
c.3442A>C (p.Ile1148Leu)
n.3755A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.75914149A>GCA3897752MYO6c.3430A>G (p.Ile1144Val)
c.3526A>G (p.Ile1176Val)
c.3457A>G (p.Ile1153Val)
c.3553A>G (p.Ile1185Val)
c.*1537A>G (n.*1537A>G)
n.1692A>G
c.3556A>G (p.Ile1186Val)
c.3514A>G (p.Ile1172Val)
c.3499A>G (p.Ile1167Val)
c.3487A>G (p.Ile1163Val)
c.3460A>G (p.Ile1154Val)
c.3442A>G (p.Ile1148Val)
n.3755A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914149A>TCA364761602MYO6c.3430A>T (p.Ile1144Phe)
c.3526A>T (p.Ile1176Phe)
c.3457A>T (p.Ile1153Phe)
c.3553A>T (p.Ile1185Phe)
c.*1537A>T (n.*1537A>T)
n.1692A>T
c.3556A>T (p.Ile1186Phe)
c.3514A>T (p.Ile1172Phe)
c.3499A>T (p.Ile1167Phe)
c.3487A>T (p.Ile1163Phe)
c.3460A>T (p.Ile1154Phe)
c.3442A>T (p.Ile1148Phe)
n.3755A>T
 gnomAD v4
6g.75914150T>ACA364761607MYO6c.3431T>A (p.Ile1144Asn)
c.3527T>A (p.Ile1176Asn)
c.3458T>A (p.Ile1153Asn)
c.3554T>A (p.Ile1185Asn)
c.*1538T>A (n.*1538T>A)
n.1693T>A
c.3557T>A (p.Ile1186Asn)
c.3515T>A (p.Ile1172Asn)
c.3500T>A (p.Ile1167Asn)
c.3488T>A (p.Ile1163Asn)
c.3461T>A (p.Ile1154Asn)
c.3443T>A (p.Ile1148Asn)
n.3756T>A
6g.75914150T>CCA364761604MYO6c.3431T>C (p.Ile1144Thr)
c.3527T>C (p.Ile1176Thr)
c.3458T>C (p.Ile1153Thr)
c.3554T>C (p.Ile1185Thr)
c.*1538T>C (n.*1538T>C)
n.1693T>C
c.3557T>C (p.Ile1186Thr)
c.3515T>C (p.Ile1172Thr)
c.3500T>C (p.Ile1167Thr)
c.3488T>C (p.Ile1163Thr)
c.3461T>C (p.Ile1154Thr)
c.3443T>C (p.Ile1148Thr)
n.3756T>C
 gnomAD v4
6g.75914150T>GCA364761603MYO6c.3431T>G (p.Ile1144Ser)
c.3527T>G (p.Ile1176Ser)
c.3458T>G (p.Ile1153Ser)
c.3554T>G (p.Ile1185Ser)
c.*1538T>G (n.*1538T>G)
n.1693T>G
c.3557T>G (p.Ile1186Ser)
c.3515T>G (p.Ile1172Ser)
c.3500T>G (p.Ile1167Ser)
c.3488T>G (p.Ile1163Ser)
c.3461T>G (p.Ile1154Ser)
c.3443T>G (p.Ile1148Ser)
n.3756T>G
6g.75914151C>ACA450938518MYO6c.3432C>A (p.Ile1144=)
c.3528C>A (p.Ile1176=)
c.3459C>A (p.Ile1153=)
c.3555C>A (p.Ile1185=)
c.*1539C>A (n.*1539C>A)
n.1694C>A
c.3558C>A (p.Ile1186=)
c.3516C>A (p.Ile1172=)
c.3501C>A (p.Ile1167=)
c.3489C>A (p.Ile1163=)
c.3462C>A (p.Ile1154=)
c.3444C>A (p.Ile1148=)
n.3757C>A
6g.75914151C>GCA364761614MYO6c.3432C>G (p.Ile1144Met)
c.3528C>G (p.Ile1176Met)
c.3459C>G (p.Ile1153Met)
c.3555C>G (p.Ile1185Met)
c.*1539C>G (n.*1539C>G)
n.1694C>G
c.3558C>G (p.Ile1186Met)
c.3516C>G (p.Ile1172Met)
c.3501C>G (p.Ile1167Met)
c.3489C>G (p.Ile1163Met)
c.3462C>G (p.Ile1154Met)
c.3444C>G (p.Ile1148Met)
n.3757C>G
6g.75914151C>TCA3897753MYO6c.3432C>T (p.Ile1144=)
c.3528C>T (p.Ile1176=)
c.3459C>T (p.Ile1153=)
c.3555C>T (p.Ile1185=)
c.*1539C>T (n.*1539C>T)
n.1694C>T
c.3558C>T (p.Ile1186=)
c.3516C>T (p.Ile1172=)
c.3501C>T (p.Ile1167=)
c.3489C>T (p.Ile1163=)
c.3462C>T (p.Ile1154=)
c.3444C>T (p.Ile1148=)
n.3757C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914152C>ACA364761619MYO6c.3433C>A (p.Arg1145Ser)
c.3529C>A (p.Arg1177Ser)
c.3460C>A (p.Arg1154Ser)
c.3556C>A (p.Arg1186Ser)
c.*1540C>A (n.*1540C>A)
n.1695C>A
c.3559C>A (p.Arg1187Ser)
c.3517C>A (p.Arg1173Ser)
c.3502C>A (p.Arg1168Ser)
c.3490C>A (p.Arg1164Ser)
c.3463C>A (p.Arg1155Ser)
c.3445C>A (p.Arg1149Ser)
n.3758C>A
6g.75914152C>GCA364761625MYO6c.3433C>G (p.Arg1145Gly)
c.3529C>G (p.Arg1177Gly)
c.3460C>G (p.Arg1154Gly)
c.3556C>G (p.Arg1186Gly)
c.*1540C>G (n.*1540C>G)
n.1695C>G
c.3559C>G (p.Arg1187Gly)
c.3517C>G (p.Arg1173Gly)
c.3502C>G (p.Arg1168Gly)
c.3490C>G (p.Arg1164Gly)
c.3463C>G (p.Arg1155Gly)
c.3445C>G (p.Arg1149Gly)
n.3758C>G
6g.75914152C>TCA3897754MYO6c.3433C>T (p.Arg1145Cys)
c.3529C>T (p.Arg1177Cys)
c.3460C>T (p.Arg1154Cys)
c.3556C>T (p.Arg1186Cys)
c.*1540C>T (n.*1540C>T)
n.1695C>T
c.3559C>T (p.Arg1187Cys)
c.3517C>T (p.Arg1173Cys)
c.3502C>T (p.Arg1168Cys)
c.3490C>T (p.Arg1164Cys)
c.3463C>T (p.Arg1155Cys)
c.3445C>T (p.Arg1149Cys)
n.3758C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.75914153G>ACA3897755MYO6c.3434G>A (p.Arg1145His)
c.3530G>A (p.Arg1177His)
c.3461G>A (p.Arg1154His)
c.3557G>A (p.Arg1186His)
c.*1541G>A (n.*1541G>A)
n.1696G>A
c.3560G>A (p.Arg1187His)
c.3518G>A (p.Arg1173His)
c.3503G>A (p.Arg1168His)
c.3491G>A (p.Arg1164His)
c.3464G>A (p.Arg1155His)
c.3446G>A (p.Arg1149His)
n.3759G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914153G>CCA364761626MYO6c.3434G>C (p.Arg1145Pro)
c.3530G>C (p.Arg1177Pro)
c.3461G>C (p.Arg1154Pro)
c.3557G>C (p.Arg1186Pro)
c.*1541G>C (n.*1541G>C)
n.1696G>C
c.3560G>C (p.Arg1187Pro)
c.3518G>C (p.Arg1173Pro)
c.3503G>C (p.Arg1168Pro)
c.3491G>C (p.Arg1164Pro)
c.3464G>C (p.Arg1155Pro)
c.3446G>C (p.Arg1149Pro)
n.3759G>C
6g.75914153G>TCA364761627MYO6c.3434G>T (p.Arg1145Leu)
c.3530G>T (p.Arg1177Leu)
c.3461G>T (p.Arg1154Leu)
c.3557G>T (p.Arg1186Leu)
c.*1541G>T (n.*1541G>T)
n.1696G>T
c.3560G>T (p.Arg1187Leu)
c.3518G>T (p.Arg1173Leu)
c.3503G>T (p.Arg1168Leu)
c.3491G>T (p.Arg1164Leu)
c.3464G>T (p.Arg1155Leu)
c.3446G>T (p.Arg1149Leu)
n.3759G>T
 gnomAD v4 COSMIC COSMIC
6g.75914154C>ACA450938519MYO6c.3435C>A (p.Arg1145=)
c.3531C>A (p.Arg1177=)
c.3462C>A (p.Arg1154=)
c.3558C>A (p.Arg1186=)
c.*1542C>A (n.*1542C>A)
n.1697C>A
c.3561C>A (p.Arg1187=)
c.3519C>A (p.Arg1173=)
c.3504C>A (p.Arg1168=)
c.3492C>A (p.Arg1164=)
c.3465C>A (p.Arg1155=)
c.3447C>A (p.Arg1149=)
n.3760C>A
6g.75914154C>GCA450938520MYO6c.3435C>G (p.Arg1145=)
c.3531C>G (p.Arg1177=)
c.3462C>G (p.Arg1154=)
c.3558C>G (p.Arg1186=)
c.*1542C>G (n.*1542C>G)
n.1697C>G
c.3561C>G (p.Arg1187=)
c.3519C>G (p.Arg1173=)
c.3504C>G (p.Arg1168=)
c.3492C>G (p.Arg1164=)
c.3465C>G (p.Arg1155=)
c.3447C>G (p.Arg1149=)
n.3760C>G
6g.75914154C>TCA3897756MYO6c.3435C>T (p.Arg1145=)
c.3531C>T (p.Arg1177=)
c.3462C>T (p.Arg1154=)
c.3558C>T (p.Arg1186=)
c.*1542C>T (n.*1542C>T)
n.1697C>T
c.3561C>T (p.Arg1187=)
c.3519C>T (p.Arg1173=)
c.3504C>T (p.Arg1168=)
c.3492C>T (p.Arg1164=)
c.3465C>T (p.Arg1155=)
c.3447C>T (p.Arg1149=)
n.3760C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914156dupCA2497157113MYO6c.3437dup (p.Ala1147CysfsTer10)
c.3533dup (p.Ala1179CysfsTer10)
c.3464dup (p.Ala1156CysfsTer10)
c.3560dup (p.Ala1188CysfsTer10)
c.*1544dup (n.*1544dup)
n.1699dup
c.3563dup (p.Ala1189CysfsTer10)
c.3521dup (p.Ala1175CysfsTer10)
c.3506dup (p.Ala1170CysfsTer10)
c.3494dup (p.Ala1166CysfsTer10)
c.3467dup (p.Ala1157CysfsTer10)
c.3449dup (p.Ala1151CysfsTer10)
n.3762dup
 dbSNP
6g.75914155C>ACA364761630MYO6c.3436C>A (p.Pro1146Thr)
c.3532C>A (p.Pro1178Thr)
c.3463C>A (p.Pro1155Thr)
c.3559C>A (p.Pro1187Thr)
c.*1543C>A (n.*1543C>A)
n.1698C>A
c.3562C>A (p.Pro1188Thr)
c.3520C>A (p.Pro1174Thr)
c.3505C>A (p.Pro1169Thr)
c.3493C>A (p.Pro1165Thr)
c.3466C>A (p.Pro1156Thr)
c.3448C>A (p.Pro1150Thr)
n.3761C>A
6g.75914155C>GCA364761632MYO6c.3436C>G (p.Pro1146Ala)
c.3532C>G (p.Pro1178Ala)
c.3463C>G (p.Pro1155Ala)
c.3559C>G (p.Pro1187Ala)
c.*1543C>G (n.*1543C>G)
n.1698C>G
c.3562C>G (p.Pro1188Ala)
c.3520C>G (p.Pro1174Ala)
c.3505C>G (p.Pro1169Ala)
c.3493C>G (p.Pro1165Ala)
c.3466C>G (p.Pro1156Ala)
c.3448C>G (p.Pro1150Ala)
n.3761C>G
6g.75914155C>TCA364761634MYO6c.3436C>T (p.Pro1146Ser)
c.3532C>T (p.Pro1178Ser)
c.3463C>T (p.Pro1155Ser)
c.3559C>T (p.Pro1187Ser)
c.*1543C>T (n.*1543C>T)
n.1698C>T
c.3562C>T (p.Pro1188Ser)
c.3520C>T (p.Pro1174Ser)
c.3505C>T (p.Pro1169Ser)
c.3493C>T (p.Pro1165Ser)
c.3466C>T (p.Pro1156Ser)
c.3448C>T (p.Pro1150Ser)
n.3761C>T
 COSMIC COSMIC
6g.75914156C>ACA364761640MYO6c.3437C>A (p.Pro1146His)
c.3533C>A (p.Pro1178His)
c.3464C>A (p.Pro1155His)
c.3560C>A (p.Pro1187His)
c.*1544C>A (n.*1544C>A)
n.1699C>A
c.3563C>A (p.Pro1188His)
c.3521C>A (p.Pro1174His)
c.3506C>A (p.Pro1169His)
c.3494C>A (p.Pro1165His)
c.3467C>A (p.Pro1156His)
c.3449C>A (p.Pro1150His)
n.3762C>A
6g.75914156C>GCA364761639MYO6c.3437C>G (p.Pro1146Arg)
c.3533C>G (p.Pro1178Arg)
c.3464C>G (p.Pro1155Arg)
c.3560C>G (p.Pro1187Arg)
c.*1544C>G (n.*1544C>G)
n.1699C>G
c.3563C>G (p.Pro1188Arg)
c.3521C>G (p.Pro1174Arg)
c.3506C>G (p.Pro1169Arg)
c.3494C>G (p.Pro1165Arg)
c.3467C>G (p.Pro1156Arg)
c.3449C>G (p.Pro1150Arg)
n.3762C>G
6g.75914156C>TCA364761636MYO6c.3437C>T (p.Pro1146Leu)
c.3533C>T (p.Pro1178Leu)
c.3464C>T (p.Pro1155Leu)
c.3560C>T (p.Pro1187Leu)
c.*1544C>T (n.*1544C>T)
n.1699C>T
c.3563C>T (p.Pro1188Leu)
c.3521C>T (p.Pro1174Leu)
c.3506C>T (p.Pro1169Leu)
c.3494C>T (p.Pro1165Leu)
c.3467C>T (p.Pro1156Leu)
c.3449C>T (p.Pro1150Leu)
n.3762C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.75914157T>ACA450938521MYO6c.3438T>A (p.Pro1146=)
c.3534T>A (p.Pro1178=)
c.3465T>A (p.Pro1155=)
c.3561T>A (p.Pro1187=)
c.*1545T>A (n.*1545T>A)
n.1700T>A
c.3564T>A (p.Pro1188=)
c.3522T>A (p.Pro1174=)
c.3507T>A (p.Pro1169=)
c.3495T>A (p.Pro1165=)
c.3468T>A (p.Pro1156=)
c.3450T>A (p.Pro1150=)
n.3763T>A
6g.75914157T>CCA450938522MYO6c.3438T>C (p.Pro1146=)
c.3534T>C (p.Pro1178=)
c.3465T>C (p.Pro1155=)
c.3561T>C (p.Pro1187=)
c.*1545T>C (n.*1545T>C)
n.1700T>C
c.3564T>C (p.Pro1188=)
c.3522T>C (p.Pro1174=)
c.3507T>C (p.Pro1169=)
c.3495T>C (p.Pro1165=)
c.3468T>C (p.Pro1156=)
c.3450T>C (p.Pro1150=)
n.3763T>C
6g.75914157T>GCA450938523MYO6c.3438T>G (p.Pro1146=)
c.3534T>G (p.Pro1178=)
c.3465T>G (p.Pro1155=)
c.3561T>G (p.Pro1187=)
c.*1545T>G (n.*1545T>G)
n.1700T>G
c.3564T>G (p.Pro1188=)
c.3522T>G (p.Pro1174=)
c.3507T>G (p.Pro1169=)
c.3495T>G (p.Pro1165=)
c.3468T>G (p.Pro1156=)
c.3450T>G (p.Pro1150=)
n.3763T>G
6g.75914158G>ACA364761645MYO6c.3439G>A (p.Ala1147Thr)
c.3535G>A (p.Ala1179Thr)
c.3466G>A (p.Ala1156Thr)
c.3562G>A (p.Ala1188Thr)
c.*1546G>A (n.*1546G>A)
n.1701G>A
c.3565G>A (p.Ala1189Thr)
c.3523G>A (p.Ala1175Thr)
c.3508G>A (p.Ala1170Thr)
c.3496G>A (p.Ala1166Thr)
c.3469G>A (p.Ala1157Thr)
c.3451G>A (p.Ala1151Thr)
n.3764G>A
 dbSNP
6g.75914158G>CCA364761642MYO6c.3439G>C (p.Ala1147Pro)
c.3535G>C (p.Ala1179Pro)
c.3466G>C (p.Ala1156Pro)
c.3562G>C (p.Ala1188Pro)
c.*1546G>C (n.*1546G>C)
n.1701G>C
c.3565G>C (p.Ala1189Pro)
c.3523G>C (p.Ala1175Pro)
c.3508G>C (p.Ala1170Pro)
c.3496G>C (p.Ala1166Pro)
c.3469G>C (p.Ala1157Pro)
c.3451G>C (p.Ala1151Pro)
n.3764G>C
6g.75914158G>TCA3897757MYO6c.3439G>T (p.Ala1147Ser)
c.3535G>T (p.Ala1179Ser)
c.3466G>T (p.Ala1156Ser)
c.3562G>T (p.Ala1188Ser)
c.*1546G>T (n.*1546G>T)
n.1701G>T
c.3565G>T (p.Ala1189Ser)
c.3523G>T (p.Ala1175Ser)
c.3508G>T (p.Ala1170Ser)
c.3496G>T (p.Ala1166Ser)
c.3469G>T (p.Ala1157Ser)
c.3451G>T (p.Ala1151Ser)
n.3764G>T
 dbSNP ExAC gnomAD v2
6g.75914159C>ACA364761648MYO6c.3440C>A (p.Ala1147Asp)
c.3536C>A (p.Ala1179Asp)
c.3467C>A (p.Ala1156Asp)
c.3563C>A (p.Ala1188Asp)
c.*1547C>A (n.*1547C>A)
n.1702C>A
c.3566C>A (p.Ala1189Asp)
c.3524C>A (p.Ala1175Asp)
c.3509C>A (p.Ala1170Asp)
c.3497C>A (p.Ala1166Asp)
c.3470C>A (p.Ala1157Asp)
c.3452C>A (p.Ala1151Asp)
n.3765C>A
6g.75914159C>GCA364761649MYO6c.3440C>G (p.Ala1147Gly)
c.3536C>G (p.Ala1179Gly)
c.3467C>G (p.Ala1156Gly)
c.3563C>G (p.Ala1188Gly)
c.*1547C>G (n.*1547C>G)
n.1702C>G
c.3566C>G (p.Ala1189Gly)
c.3524C>G (p.Ala1175Gly)
c.3509C>G (p.Ala1170Gly)
c.3497C>G (p.Ala1166Gly)
c.3470C>G (p.Ala1157Gly)
c.3452C>G (p.Ala1151Gly)
n.3765C>G
6g.75914159C>TCA364761650MYO6c.3440C>T (p.Ala1147Val)
c.3536C>T (p.Ala1179Val)
c.3467C>T (p.Ala1156Val)
c.3563C>T (p.Ala1188Val)
c.*1547C>T (n.*1547C>T)
n.1702C>T
c.3566C>T (p.Ala1189Val)
c.3524C>T (p.Ala1175Val)
c.3509C>T (p.Ala1170Val)
c.3497C>T (p.Ala1166Val)
c.3470C>T (p.Ala1157Val)
c.3452C>T (p.Ala1151Val)
n.3765C>T
6g.75914160C>ACA450938524MYO6c.3441C>A (p.Ala1147=)
c.3537C>A (p.Ala1179=)
c.3468C>A (p.Ala1156=)
c.3564C>A (p.Ala1188=)
c.*1548C>A (n.*1548C>A)
n.1703C>A
c.3567C>A (p.Ala1189=)
c.3525C>A (p.Ala1175=)
c.3510C>A (p.Ala1170=)
c.3498C>A (p.Ala1166=)
c.3471C>A (p.Ala1157=)
c.3453C>A (p.Ala1151=)
n.3766C>A
6g.75914160C>GCA450938525MYO6c.3441C>G (p.Ala1147=)
c.3537C>G (p.Ala1179=)
c.3468C>G (p.Ala1156=)
c.3564C>G (p.Ala1188=)
c.*1548C>G (n.*1548C>G)
n.1703C>G
c.3567C>G (p.Ala1189=)
c.3525C>G (p.Ala1175=)
c.3510C>G (p.Ala1170=)
c.3498C>G (p.Ala1166=)
c.3471C>G (p.Ala1157=)
c.3453C>G (p.Ala1151=)
n.3766C>G
6g.75914160C>TCA135631MYO6c.3441C>T (p.Ala1147=)
c.3537C>T (p.Ala1179=)
c.3468C>T (p.Ala1156=)
c.3564C>T (p.Ala1188=)
c.*1548C>T (n.*1548C>T)
n.1703C>T
c.3567C>T (p.Ala1189=)
c.3525C>T (p.Ala1175=)
c.3510C>T (p.Ala1170=)
c.3498C>T (p.Ala1166=)
c.3471C>T (p.Ala1157=)
c.3453C>T (p.Ala1151=)
n.3766C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914161G>ACA3897759MYO6c.3442G>A (p.Asp1148Asn)
c.3538G>A (p.Asp1180Asn)
c.3469G>A (p.Asp1157Asn)
c.3565G>A (p.Asp1189Asn)
c.*1549G>A (n.*1549G>A)
n.1704G>A
c.3568G>A (p.Asp1190Asn)
c.3526G>A (p.Asp1176Asn)
c.3511G>A (p.Asp1171Asn)
c.3499G>A (p.Asp1167Asn)
c.3472G>A (p.Asp1158Asn)
c.3454G>A (p.Asp1152Asn)
n.3767G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.75914161G>CCA364761654MYO6c.3442G>C (p.Asp1148His)
c.3538G>C (p.Asp1180His)
c.3469G>C (p.Asp1157His)
c.3565G>C (p.Asp1189His)
c.*1549G>C (n.*1549G>C)
n.1704G>C
c.3568G>C (p.Asp1190His)
c.3526G>C (p.Asp1176His)
c.3511G>C (p.Asp1171His)
c.3499G>C (p.Asp1167His)
c.3472G>C (p.Asp1158His)
c.3454G>C (p.Asp1152His)
n.3767G>C
6g.75914161G>TCA3897758MYO6c.3442G>T (p.Asp1148Tyr)
c.3538G>T (p.Asp1180Tyr)
c.3469G>T (p.Asp1157Tyr)
c.3565G>T (p.Asp1189Tyr)
c.*1549G>T (n.*1549G>T)
n.1704G>T
c.3568G>T (p.Asp1190Tyr)
c.3526G>T (p.Asp1176Tyr)
c.3511G>T (p.Asp1171Tyr)
c.3499G>T (p.Asp1167Tyr)
c.3472G>T (p.Asp1158Tyr)
c.3454G>T (p.Asp1152Tyr)
n.3767G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914162A>CCA364761664MYO6c.3443A>C (p.Asp1148Ala)
c.3539A>C (p.Asp1180Ala)
c.3470A>C (p.Asp1157Ala)
c.3566A>C (p.Asp1189Ala)
c.*1550A>C (n.*1550A>C)
n.1705A>C
c.3569A>C (p.Asp1190Ala)
c.3527A>C (p.Asp1176Ala)
c.3512A>C (p.Asp1171Ala)
c.3500A>C (p.Asp1167Ala)
c.3473A>C (p.Asp1158Ala)
c.3455A>C (p.Asp1152Ala)
n.3768A>C
6g.75914162A>GCA364761667MYO6c.3443A>G (p.Asp1148Gly)
c.3539A>G (p.Asp1180Gly)
c.3470A>G (p.Asp1157Gly)
c.3566A>G (p.Asp1189Gly)
c.*1550A>G (n.*1550A>G)
n.1705A>G
c.3569A>G (p.Asp1190Gly)
c.3527A>G (p.Asp1176Gly)
c.3512A>G (p.Asp1171Gly)
c.3500A>G (p.Asp1167Gly)
c.3473A>G (p.Asp1158Gly)
c.3455A>G (p.Asp1152Gly)
n.3768A>G
 gnomAD v4
6g.75914162A>TCA3897760MYO6c.3443A>T (p.Asp1148Val)
c.3539A>T (p.Asp1180Val)
c.3470A>T (p.Asp1157Val)
c.3566A>T (p.Asp1189Val)
c.*1550A>T (n.*1550A>T)
n.1705A>T
c.3569A>T (p.Asp1190Val)
c.3527A>T (p.Asp1176Val)
c.3512A>T (p.Asp1171Val)
c.3500A>T (p.Asp1167Val)
c.3473A>T (p.Asp1158Val)
c.3455A>T (p.Asp1152Val)
n.3768A>T
 dbSNP ExAC gnomAD v4
6g.75914163C>ACA364761672MYO6c.3444C>A (p.Asp1148Glu)
c.3540C>A (p.Asp1180Glu)
c.3471C>A (p.Asp1157Glu)
c.3567C>A (p.Asp1189Glu)
c.*1551C>A (n.*1551C>A)
n.1706C>A
c.3570C>A (p.Asp1190Glu)
c.3528C>A (p.Asp1176Glu)
c.3513C>A (p.Asp1171Glu)
c.3501C>A (p.Asp1167Glu)
c.3474C>A (p.Asp1158Glu)
c.3456C>A (p.Asp1152Glu)
n.3769C>A
 gnomAD v4
6g.75914163C>GCA364761673MYO6c.3444C>G (p.Asp1148Glu)
c.3540C>G (p.Asp1180Glu)
c.3471C>G (p.Asp1157Glu)
c.3567C>G (p.Asp1189Glu)
c.*1551C>G (n.*1551C>G)
n.1706C>G
c.3570C>G (p.Asp1190Glu)
c.3528C>G (p.Asp1176Glu)
c.3513C>G (p.Asp1171Glu)
c.3501C>G (p.Asp1167Glu)
c.3474C>G (p.Asp1158Glu)
c.3456C>G (p.Asp1152Glu)
n.3769C>G
6g.75914163C>TCA450938526MYO6c.3444C>T (p.Asp1148=)
c.3540C>T (p.Asp1180=)
c.3471C>T (p.Asp1157=)
c.3567C>T (p.Asp1189=)
c.*1551C>T (n.*1551C>T)
n.1706C>T
c.3570C>T (p.Asp1190=)
c.3528C>T (p.Asp1176=)
c.3513C>T (p.Asp1171=)
c.3501C>T (p.Asp1167=)
c.3474C>T (p.Asp1158=)
c.3456C>T (p.Asp1152=)
n.3769C>T
6g.75914164C>ACA364761678MYO6c.3445C>A (p.Gln1149Lys)
c.3541C>A (p.Gln1181Lys)
c.3472C>A (p.Gln1158Lys)
c.3568C>A (p.Gln1190Lys)
c.*1552C>A (n.*1552C>A)
n.1707C>A
c.3571C>A (p.Gln1191Lys)
c.3529C>A (p.Gln1177Lys)
c.3514C>A (p.Gln1172Lys)
c.3502C>A (p.Gln1168Lys)
c.3475C>A (p.Gln1159Lys)
c.3457C>A (p.Gln1153Lys)
n.3770C>A
6g.75914164C>GCA364761674MYO6c.3445C>G (p.Gln1149Glu)
c.3541C>G (p.Gln1181Glu)
c.3472C>G (p.Gln1158Glu)
c.3568C>G (p.Gln1190Glu)
c.*1552C>G (n.*1552C>G)
n.1707C>G
c.3571C>G (p.Gln1191Glu)
c.3529C>G (p.Gln1177Glu)
c.3514C>G (p.Gln1172Glu)
c.3502C>G (p.Gln1168Glu)
c.3475C>G (p.Gln1159Glu)
c.3457C>G (p.Gln1153Glu)
n.3770C>G
6g.75914164C>TCA364761675MYO6c.3445C>T (p.Gln1149Ter)
c.3541C>T (p.Gln1181Ter)
c.3472C>T (p.Gln1158Ter)
c.3568C>T (p.Gln1190Ter)
c.*1552C>T (n.*1552C>T)
n.1707C>T
c.3571C>T (p.Gln1191Ter)
c.3529C>T (p.Gln1177Ter)
c.3514C>T (p.Gln1172Ter)
c.3502C>T (p.Gln1168Ter)
c.3475C>T (p.Gln1159Ter)
c.3457C>T (p.Gln1153Ter)
n.3770C>T
6g.75914165A>CCA364761680MYO6c.3446A>C (p.Gln1149Pro)
c.3542A>C (p.Gln1181Pro)
c.3473A>C (p.Gln1158Pro)
c.3569A>C (p.Gln1190Pro)
c.*1553A>C (n.*1553A>C)
n.1708A>C
c.3572A>C (p.Gln1191Pro)
c.3530A>C (p.Gln1177Pro)
c.3515A>C (p.Gln1172Pro)
c.3503A>C (p.Gln1168Pro)
c.3476A>C (p.Gln1159Pro)
c.3458A>C (p.Gln1153Pro)
n.3771A>C
 gnomAD v4
6g.75914165A>GCA364761684MYO6c.3446A>G (p.Gln1149Arg)
c.3542A>G (p.Gln1181Arg)
c.3473A>G (p.Gln1158Arg)
c.3569A>G (p.Gln1190Arg)
c.*1553A>G (n.*1553A>G)
n.1708A>G
c.3572A>G (p.Gln1191Arg)
c.3530A>G (p.Gln1177Arg)
c.3515A>G (p.Gln1172Arg)
c.3503A>G (p.Gln1168Arg)
c.3476A>G (p.Gln1159Arg)
c.3458A>G (p.Gln1153Arg)
n.3771A>G
 dbSNP gnomAD v2 gnomAD v4
6g.75914165A>TCA3897761MYO6c.3446A>T (p.Gln1149Leu)
c.3542A>T (p.Gln1181Leu)
c.3473A>T (p.Gln1158Leu)
c.3569A>T (p.Gln1190Leu)
c.*1553A>T (n.*1553A>T)
n.1708A>T
c.3572A>T (p.Gln1191Leu)
c.3530A>T (p.Gln1177Leu)
c.3515A>T (p.Gln1172Leu)
c.3503A>T (p.Gln1168Leu)
c.3476A>T (p.Gln1159Leu)
c.3458A>T (p.Gln1153Leu)
n.3771A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914166G>ACA450938527MYO6c.3447G>A (p.Gln1149=)
c.3543G>A (p.Gln1181=)
c.3474G>A (p.Gln1158=)
c.3570G>A (p.Gln1190=)
c.*1554G>A (n.*1554G>A)
n.1709G>A
c.3573G>A (p.Gln1191=)
c.3531G>A (p.Gln1177=)
c.3516G>A (p.Gln1172=)
c.3504G>A (p.Gln1168=)
c.3477G>A (p.Gln1159=)
c.3459G>A (p.Gln1153=)
n.3772G>A
6g.75914166G>CCA364761689MYO6c.3447G>C (p.Gln1149His)
c.3543G>C (p.Gln1181His)
c.3474G>C (p.Gln1158His)
c.3570G>C (p.Gln1190His)
c.*1554G>C (n.*1554G>C)
n.1709G>C
c.3573G>C (p.Gln1191His)
c.3531G>C (p.Gln1177His)
c.3516G>C (p.Gln1172His)
c.3504G>C (p.Gln1168His)
c.3477G>C (p.Gln1159His)
c.3459G>C (p.Gln1153His)
n.3772G>C
6g.75914166G>TCA364761692MYO6c.3447G>T (p.Gln1149His)
c.3543G>T (p.Gln1181His)
c.3474G>T (p.Gln1158His)
c.3570G>T (p.Gln1190His)
c.*1554G>T (n.*1554G>T)
n.1709G>T
c.3573G>T (p.Gln1191His)
c.3531G>T (p.Gln1177His)
c.3516G>T (p.Gln1172His)
c.3504G>T (p.Gln1168His)
c.3477G>T (p.Gln1159His)
c.3459G>T (p.Gln1153His)
n.3772G>T
6g.75914167T>ACA364761695MYO6c.3448T>A (p.Tyr1150Asn)
c.3544T>A (p.Tyr1182Asn)
c.3475T>A (p.Tyr1159Asn)
c.3571T>A (p.Tyr1191Asn)
c.*1555T>A (n.*1555T>A)
n.1710T>A
c.3574T>A (p.Tyr1192Asn)
c.3532T>A (p.Tyr1178Asn)
c.3517T>A (p.Tyr1173Asn)
c.3505T>A (p.Tyr1169Asn)
c.3478T>A (p.Tyr1160Asn)
c.3460T>A (p.Tyr1154Asn)
n.3773T>A
6g.75914167T>CCA364761701MYO6c.3448T>C (p.Tyr1150His)
c.3544T>C (p.Tyr1182His)
c.3475T>C (p.Tyr1159His)
c.3571T>C (p.Tyr1191His)
c.*1555T>C (n.*1555T>C)
n.1710T>C
c.3574T>C (p.Tyr1192His)
c.3532T>C (p.Tyr1178His)
c.3517T>C (p.Tyr1173His)
c.3505T>C (p.Tyr1169His)
c.3478T>C (p.Tyr1160His)
c.3460T>C (p.Tyr1154His)
n.3773T>C
 gnomAD v4
6g.75914167T>GCA364761703MYO6c.3448T>G (p.Tyr1150Asp)
c.3544T>G (p.Tyr1182Asp)
c.3475T>G (p.Tyr1159Asp)
c.3571T>G (p.Tyr1191Asp)
c.*1555T>G (n.*1555T>G)
n.1710T>G
c.3574T>G (p.Tyr1192Asp)
c.3532T>G (p.Tyr1178Asp)
c.3517T>G (p.Tyr1173Asp)
c.3505T>G (p.Tyr1169Asp)
c.3478T>G (p.Tyr1160Asp)
c.3460T>G (p.Tyr1154Asp)
n.3773T>G
6g.75914168A>CCA364761705MYO6c.3449A>C (p.Tyr1150Ser)
c.3545A>C (p.Tyr1182Ser)
c.3476A>C (p.Tyr1159Ser)
c.3572A>C (p.Tyr1191Ser)
c.*1556A>C (n.*1556A>C)
n.1711A>C
c.3575A>C (p.Tyr1192Ser)
c.3533A>C (p.Tyr1178Ser)
c.3518A>C (p.Tyr1173Ser)
c.3506A>C (p.Tyr1169Ser)
c.3479A>C (p.Tyr1160Ser)
c.3461A>C (p.Tyr1154Ser)
n.3774A>C
6g.75914168A>GCA364761707MYO6c.3449A>G (p.Tyr1150Cys)
c.3545A>G (p.Tyr1182Cys)
c.3476A>G (p.Tyr1159Cys)
c.3572A>G (p.Tyr1191Cys)
c.*1556A>G (n.*1556A>G)
n.1711A>G
c.3575A>G (p.Tyr1192Cys)
c.3533A>G (p.Tyr1178Cys)
c.3518A>G (p.Tyr1173Cys)
c.3506A>G (p.Tyr1169Cys)
c.3479A>G (p.Tyr1160Cys)
c.3461A>G (p.Tyr1154Cys)
n.3774A>G
6g.75914168A>TCA364761712MYO6c.3449A>T (p.Tyr1150Phe)
c.3545A>T (p.Tyr1182Phe)
c.3476A>T (p.Tyr1159Phe)
c.3572A>T (p.Tyr1191Phe)
c.*1556A>T (n.*1556A>T)
n.1711A>T
c.3575A>T (p.Tyr1192Phe)
c.3533A>T (p.Tyr1178Phe)
c.3518A>T (p.Tyr1173Phe)
c.3506A>T (p.Tyr1169Phe)
c.3479A>T (p.Tyr1160Phe)
c.3461A>T (p.Tyr1154Phe)
n.3774A>T
6g.75914169C>ACA364761715MYO6c.3450C>A (p.Tyr1150Ter)
c.3546C>A (p.Tyr1182Ter)
c.3477C>A (p.Tyr1159Ter)
c.3573C>A (p.Tyr1191Ter)
c.*1557C>A (n.*1557C>A)
n.1712C>A
c.3576C>A (p.Tyr1192Ter)
c.3534C>A (p.Tyr1178Ter)
c.3519C>A (p.Tyr1173Ter)
c.3507C>A (p.Tyr1169Ter)
c.3480C>A (p.Tyr1160Ter)
c.3462C>A (p.Tyr1154Ter)
n.3775C>A
6g.75914169C>GCA364761716MYO6c.3450C>G (p.Tyr1150Ter)
c.3546C>G (p.Tyr1182Ter)
c.3477C>G (p.Tyr1159Ter)
c.3573C>G (p.Tyr1191Ter)
c.*1557C>G (n.*1557C>G)
n.1712C>G
c.3576C>G (p.Tyr1192Ter)
c.3534C>G (p.Tyr1178Ter)
c.3519C>G (p.Tyr1173Ter)
c.3507C>G (p.Tyr1169Ter)
c.3480C>G (p.Tyr1160Ter)
c.3462C>G (p.Tyr1154Ter)
n.3775C>G
6g.75914169C>TCA450938528MYO6c.3450C>T (p.Tyr1150=)
c.3546C>T (p.Tyr1182=)
c.3477C>T (p.Tyr1159=)
c.3573C>T (p.Tyr1191=)
c.*1557C>T (n.*1557C>T)
n.1712C>T
c.3576C>T (p.Tyr1192=)
c.3534C>T (p.Tyr1178=)
c.3519C>T (p.Tyr1173=)
c.3507C>T (p.Tyr1169=)
c.3480C>T (p.Tyr1160=)
c.3462C>T (p.Tyr1154=)
n.3775C>T
 gnomAD v4
6g.75914170A>CCA364761720MYO6c.3451A>C (p.Lys1151Gln)
c.3547A>C (p.Lys1183Gln)
c.3478A>C (p.Lys1160Gln)
c.3574A>C (p.Lys1192Gln)
c.*1558A>C (n.*1558A>C)
n.1713A>C
c.3577A>C (p.Lys1193Gln)
c.3535A>C (p.Lys1179Gln)
c.3520A>C (p.Lys1174Gln)
c.3508A>C (p.Lys1170Gln)
c.3481A>C (p.Lys1161Gln)
c.3463A>C (p.Lys1155Gln)
n.3776A>C
 dbSNP
6g.75914170A>GCA364761731MYO6c.3451A>G (p.Lys1151Glu)
c.3547A>G (p.Lys1183Glu)
c.3478A>G (p.Lys1160Glu)
c.3574A>G (p.Lys1192Glu)
c.*1558A>G (n.*1558A>G)
n.1713A>G
c.3577A>G (p.Lys1193Glu)
c.3535A>G (p.Lys1179Glu)
c.3520A>G (p.Lys1174Glu)
c.3508A>G (p.Lys1170Glu)
c.3481A>G (p.Lys1161Glu)
c.3463A>G (p.Lys1155Glu)
n.3776A>G
 gnomAD v4
6g.75914170A>TCA364761722MYO6c.3451A>T (p.Lys1151Ter)
c.3547A>T (p.Lys1183Ter)
c.3478A>T (p.Lys1160Ter)
c.3574A>T (p.Lys1192Ter)
c.*1558A>T (n.*1558A>T)
n.1713A>T
c.3577A>T (p.Lys1193Ter)
c.3535A>T (p.Lys1179Ter)
c.3520A>T (p.Lys1174Ter)
c.3508A>T (p.Lys1170Ter)
c.3481A>T (p.Lys1161Ter)
c.3463A>T (p.Lys1155Ter)
n.3776A>T
6g.75914171A>CCA364761736MYO6c.3452A>C (p.Lys1151Thr)
c.3548A>C (p.Lys1183Thr)
c.3479A>C (p.Lys1160Thr)
c.3575A>C (p.Lys1192Thr)
c.*1559A>C (n.*1559A>C)
n.1714A>C
c.3578A>C (p.Lys1193Thr)
c.3536A>C (p.Lys1179Thr)
c.3521A>C (p.Lys1174Thr)
c.3509A>C (p.Lys1170Thr)
c.3482A>C (p.Lys1161Thr)
c.3464A>C (p.Lys1155Thr)
n.3777A>C
6g.75914171A>GCA364761740MYO6c.3452A>G (p.Lys1151Arg)
c.3548A>G (p.Lys1183Arg)
c.3479A>G (p.Lys1160Arg)
c.3575A>G (p.Lys1192Arg)
c.*1559A>G (n.*1559A>G)
n.1714A>G
c.3578A>G (p.Lys1193Arg)
c.3536A>G (p.Lys1179Arg)
c.3521A>G (p.Lys1174Arg)
c.3509A>G (p.Lys1170Arg)
c.3482A>G (p.Lys1161Arg)
c.3464A>G (p.Lys1155Arg)
n.3777A>G
 dbSNP
6g.75914171A>TCA364761742MYO6c.3452A>T (p.Lys1151Ile)
c.3548A>T (p.Lys1183Ile)
c.3479A>T (p.Lys1160Ile)
c.3575A>T (p.Lys1192Ile)
c.*1559A>T (n.*1559A>T)
n.1714A>T
c.3578A>T (p.Lys1193Ile)
c.3536A>T (p.Lys1179Ile)
c.3521A>T (p.Lys1174Ile)
c.3509A>T (p.Lys1170Ile)
c.3482A>T (p.Lys1161Ile)
c.3464A>T (p.Lys1155Ile)
n.3777A>T
6g.75914172A>CCA364761745MYO6c.3453A>C (p.Lys1151Asn)
c.3549A>C (p.Lys1183Asn)
c.3480A>C (p.Lys1160Asn)
c.3576A>C (p.Lys1192Asn)
c.*1560A>C (n.*1560A>C)
n.1715A>C
c.3579A>C (p.Lys1193Asn)
c.3537A>C (p.Lys1179Asn)
c.3522A>C (p.Lys1174Asn)
c.3510A>C (p.Lys1170Asn)
c.3483A>C (p.Lys1161Asn)
c.3465A>C (p.Lys1155Asn)
n.3778A>C
6g.75914172A>GCA450938529MYO6c.3453A>G (p.Lys1151=)
c.3549A>G (p.Lys1183=)
c.3480A>G (p.Lys1160=)
c.3576A>G (p.Lys1192=)
c.*1560A>G (n.*1560A>G)
n.1715A>G
c.3579A>G (p.Lys1193=)
c.3537A>G (p.Lys1179=)
c.3522A>G (p.Lys1174=)
c.3510A>G (p.Lys1170=)
c.3483A>G (p.Lys1161=)
c.3465A>G (p.Lys1155=)
n.3778A>G
6g.75914172A>TCA364761749MYO6c.3453A>T (p.Lys1151Asn)
c.3549A>T (p.Lys1183Asn)
c.3480A>T (p.Lys1160Asn)
c.3576A>T (p.Lys1192Asn)
c.*1560A>T (n.*1560A>T)
n.1715A>T
c.3579A>T (p.Lys1193Asn)
c.3537A>T (p.Lys1179Asn)
c.3522A>T (p.Lys1174Asn)
c.3510A>T (p.Lys1170Asn)
c.3483A>T (p.Lys1161Asn)
c.3465A>T (p.Lys1155Asn)
n.3778A>T
6g.75914173G>ACA364761754MYO6c.3454G>A (p.Asp1152Asn)
c.3550G>A (p.Asp1184Asn)
c.3481G>A (p.Asp1161Asn)
c.3577G>A (p.Asp1193Asn)
c.*1561G>A (n.*1561G>A)
n.1716G>A
c.3580G>A (p.Asp1194Asn)
c.3538G>A (p.Asp1180Asn)
c.3523G>A (p.Asp1175Asn)
c.3511G>A (p.Asp1171Asn)
c.3484G>A (p.Asp1162Asn)
c.3466G>A (p.Asp1156Asn)
n.3779G>A
6g.75914173G>CCA364761756MYO6c.3454G>C (p.Asp1152His)
c.3550G>C (p.Asp1184His)
c.3481G>C (p.Asp1161His)
c.3577G>C (p.Asp1193His)
c.*1561G>C (n.*1561G>C)
n.1716G>C
c.3580G>C (p.Asp1194His)
c.3538G>C (p.Asp1180His)
c.3523G>C (p.Asp1175His)
c.3511G>C (p.Asp1171His)
c.3484G>C (p.Asp1162His)
c.3466G>C (p.Asp1156His)
n.3779G>C
6g.75914173G>TCA364761757MYO6c.3454G>T (p.Asp1152Tyr)
c.3550G>T (p.Asp1184Tyr)
c.3481G>T (p.Asp1161Tyr)
c.3577G>T (p.Asp1193Tyr)
c.*1561G>T (n.*1561G>T)
n.1716G>T
c.3580G>T (p.Asp1194Tyr)
c.3538G>T (p.Asp1180Tyr)
c.3523G>T (p.Asp1175Tyr)
c.3511G>T (p.Asp1171Tyr)
c.3484G>T (p.Asp1162Tyr)
c.3466G>T (p.Asp1156Tyr)
n.3779G>T
6g.75914174A>CCA364761758MYO6c.3455A>C (p.Asp1152Ala)
c.3551A>C (p.Asp1184Ala)
c.3482A>C (p.Asp1161Ala)
c.3578A>C (p.Asp1193Ala)
c.*1562A>C (n.*1562A>C)
n.1717A>C
c.3581A>C (p.Asp1194Ala)
c.3539A>C (p.Asp1180Ala)
c.3524A>C (p.Asp1175Ala)
c.3512A>C (p.Asp1171Ala)
c.3485A>C (p.Asp1162Ala)
c.3467A>C (p.Asp1156Ala)
n.3780A>C
6g.75914174A>GCA364761759MYO6c.3455A>G (p.Asp1152Gly)
c.3551A>G (p.Asp1184Gly)
c.3482A>G (p.Asp1161Gly)
c.3578A>G (p.Asp1193Gly)
c.*1562A>G (n.*1562A>G)
n.1717A>G
c.3581A>G (p.Asp1194Gly)
c.3539A>G (p.Asp1180Gly)
c.3524A>G (p.Asp1175Gly)
c.3512A>G (p.Asp1171Gly)
c.3485A>G (p.Asp1162Gly)
c.3467A>G (p.Asp1156Gly)
n.3780A>G
6g.75914174A>TCA364761760MYO6c.3455A>T (p.Asp1152Val)
c.3551A>T (p.Asp1184Val)
c.3482A>T (p.Asp1161Val)
c.3578A>T (p.Asp1193Val)
c.*1562A>T (n.*1562A>T)
n.1717A>T
c.3581A>T (p.Asp1194Val)
c.3539A>T (p.Asp1180Val)
c.3524A>T (p.Asp1175Val)
c.3512A>T (p.Asp1171Val)
c.3485A>T (p.Asp1162Val)
c.3467A>T (p.Asp1156Val)
n.3780A>T
6g.75914175C>ACA364761761MYO6c.3456C>A (p.Asp1152Glu)
c.3552C>A (p.Asp1184Glu)
c.3483C>A (p.Asp1161Glu)
c.3579C>A (p.Asp1193Glu)
c.*1563C>A (n.*1563C>A)
n.1718C>A
c.3582C>A (p.Asp1194Glu)
c.3540C>A (p.Asp1180Glu)
c.3525C>A (p.Asp1175Glu)
c.3513C>A (p.Asp1171Glu)
c.3486C>A (p.Asp1162Glu)
c.3468C>A (p.Asp1156Glu)
n.3781C>A
 gnomAD v4
6g.75914175C>GCA364761762MYO6c.3456C>G (p.Asp1152Glu)
c.3552C>G (p.Asp1184Glu)
c.3483C>G (p.Asp1161Glu)
c.3579C>G (p.Asp1193Glu)
c.*1563C>G (n.*1563C>G)
n.1718C>G
c.3582C>G (p.Asp1194Glu)
c.3540C>G (p.Asp1180Glu)
c.3525C>G (p.Asp1175Glu)
c.3513C>G (p.Asp1171Glu)
c.3486C>G (p.Asp1162Glu)
c.3468C>G (p.Asp1156Glu)
n.3781C>G
6g.75914175C>TCA450938530MYO6c.3456C>T (p.Asp1152=)
c.3552C>T (p.Asp1184=)
c.3483C>T (p.Asp1161=)
c.3579C>T (p.Asp1193=)
c.*1563C>T (n.*1563C>T)
n.1718C>T
c.3582C>T (p.Asp1194=)
c.3540C>T (p.Asp1180=)
c.3525C>T (p.Asp1175=)
c.3513C>T (p.Asp1171=)
c.3486C>T (p.Asp1162=)
c.3468C>T (p.Asp1156=)
n.3781C>T
 gnomAD v4
6g.75914176C>ACA364761766MYO6c.3457C>A (p.Pro1153Thr)
c.3553C>A (p.Pro1185Thr)
c.3484C>A (p.Pro1162Thr)
c.3580C>A (p.Pro1194Thr)
c.*1564C>A (n.*1564C>A)
n.1719C>A
c.3583C>A (p.Pro1195Thr)
c.3541C>A (p.Pro1181Thr)
c.3526C>A (p.Pro1176Thr)
c.3514C>A (p.Pro1172Thr)
c.3487C>A (p.Pro1163Thr)
c.3469C>A (p.Pro1157Thr)
n.3782C>A
6g.75914176C>GCA364761768MYO6c.3457C>G (p.Pro1153Ala)
c.3553C>G (p.Pro1185Ala)
c.3484C>G (p.Pro1162Ala)
c.3580C>G (p.Pro1194Ala)
c.*1564C>G (n.*1564C>G)
n.1719C>G
c.3583C>G (p.Pro1195Ala)
c.3541C>G (p.Pro1181Ala)
c.3526C>G (p.Pro1176Ala)
c.3514C>G (p.Pro1172Ala)
c.3487C>G (p.Pro1163Ala)
c.3469C>G (p.Pro1157Ala)
n.3782C>G
6g.75914176C>TCA364761767MYO6c.3457C>T (p.Pro1153Ser)
c.3553C>T (p.Pro1185Ser)
c.3484C>T (p.Pro1162Ser)
c.3580C>T (p.Pro1194Ser)
c.*1564C>T (n.*1564C>T)
n.1719C>T
c.3583C>T (p.Pro1195Ser)
c.3541C>T (p.Pro1181Ser)
c.3526C>T (p.Pro1176Ser)
c.3514C>T (p.Pro1172Ser)
c.3487C>T (p.Pro1163Ser)
c.3469C>T (p.Pro1157Ser)
n.3782C>T
6g.75914177C>ACA364761769MYO6c.3458C>A (p.Pro1153His)
c.3554C>A (p.Pro1185His)
c.3485C>A (p.Pro1162His)
c.3581C>A (p.Pro1194His)
c.*1565C>A (n.*1565C>A)
n.1720C>A
c.3584C>A (p.Pro1195His)
c.3542C>A (p.Pro1181His)
c.3527C>A (p.Pro1176His)
c.3515C>A (p.Pro1172His)
c.3488C>A (p.Pro1163His)
c.3470C>A (p.Pro1157His)
n.3783C>A
6g.75914177C>GCA3897762MYO6c.3458C>G (p.Pro1153Arg)
c.3554C>G (p.Pro1185Arg)
c.3485C>G (p.Pro1162Arg)
c.3581C>G (p.Pro1194Arg)
c.*1565C>G (n.*1565C>G)
n.1720C>G
c.3584C>G (p.Pro1195Arg)
c.3542C>G (p.Pro1181Arg)
c.3527C>G (p.Pro1176Arg)
c.3515C>G (p.Pro1172Arg)
c.3488C>G (p.Pro1163Arg)
c.3470C>G (p.Pro1157Arg)
n.3783C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914177C>TCA364761775MYO6c.3458C>T (p.Pro1153Leu)
c.3554C>T (p.Pro1185Leu)
c.3485C>T (p.Pro1162Leu)
c.3581C>T (p.Pro1194Leu)
c.*1565C>T (n.*1565C>T)
n.1720C>T
c.3584C>T (p.Pro1195Leu)
c.3542C>T (p.Pro1181Leu)
c.3527C>T (p.Pro1176Leu)
c.3515C>T (p.Pro1172Leu)
c.3488C>T (p.Pro1163Leu)
c.3470C>T (p.Pro1157Leu)
n.3783C>T
6g.75914178T>ACA450938531MYO6c.3459T>A (p.Pro1153=)
c.3555T>A (p.Pro1185=)
c.3486T>A (p.Pro1162=)
c.3582T>A (p.Pro1194=)
c.*1566T>A (n.*1566T>A)
n.1721T>A
c.3585T>A (p.Pro1195=)
c.3543T>A (p.Pro1181=)
c.3528T>A (p.Pro1176=)
c.3516T>A (p.Pro1172=)
c.3489T>A (p.Pro1163=)
c.3471T>A (p.Pro1157=)
n.3784T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.75914178T>CCA450938532MYO6c.3459T>C (p.Pro1153=)
c.3555T>C (p.Pro1185=)
c.3486T>C (p.Pro1162=)
c.3582T>C (p.Pro1194=)
c.*1566T>C (n.*1566T>C)
n.1721T>C
c.3585T>C (p.Pro1195=)
c.3543T>C (p.Pro1181=)
c.3528T>C (p.Pro1176=)
c.3516T>C (p.Pro1172=)
c.3489T>C (p.Pro1163=)
c.3471T>C (p.Pro1157=)
n.3784T>C
6g.75914178T>GCA450938533MYO6c.3459T>G (p.Pro1153=)
c.3555T>G (p.Pro1185=)
c.3486T>G (p.Pro1162=)
c.3582T>G (p.Pro1194=)
c.*1566T>G (n.*1566T>G)
n.1721T>G
c.3585T>G (p.Pro1195=)
c.3543T>G (p.Pro1181=)
c.3528T>G (p.Pro1176=)
c.3516T>G (p.Pro1172=)
c.3489T>G (p.Pro1163=)
c.3471T>G (p.Pro1157=)
n.3784T>G
6g.75914179C>ACA364761781MYO6c.3460C>A (p.Gln1154Lys)
c.3556C>A (p.Gln1186Lys)
c.3487C>A (p.Gln1163Lys)
c.3583C>A (p.Gln1195Lys)
c.*1567C>A (n.*1567C>A)
n.1722C>A
c.3586C>A (p.Gln1196Lys)
c.3544C>A (p.Gln1182Lys)
c.3529C>A (p.Gln1177Lys)
c.3517C>A (p.Gln1173Lys)
c.3490C>A (p.Gln1164Lys)
c.3472C>A (p.Gln1158Lys)
n.3785C>A
 dbSNP
6g.75914179C>GCA364761786MYO6c.3460C>G (p.Gln1154Glu)
c.3556C>G (p.Gln1186Glu)
c.3487C>G (p.Gln1163Glu)
c.3583C>G (p.Gln1195Glu)
c.*1567C>G (n.*1567C>G)
n.1722C>G
c.3586C>G (p.Gln1196Glu)
c.3544C>G (p.Gln1182Glu)
c.3529C>G (p.Gln1177Glu)
c.3517C>G (p.Gln1173Glu)
c.3490C>G (p.Gln1164Glu)
c.3472C>G (p.Gln1158Glu)
n.3785C>G
6g.75914179C>TCA364761794MYO6c.3460C>T (p.Gln1154Ter)
c.3556C>T (p.Gln1186Ter)
c.3487C>T (p.Gln1163Ter)
c.3583C>T (p.Gln1195Ter)
c.*1567C>T (n.*1567C>T)
n.1722C>T
c.3586C>T (p.Gln1196Ter)
c.3544C>T (p.Gln1182Ter)
c.3529C>T (p.Gln1177Ter)
c.3517C>T (p.Gln1173Ter)
c.3490C>T (p.Gln1164Ter)
c.3472C>T (p.Gln1158Ter)
n.3785C>T
6g.75914180A>CCA364761804MYO6c.3461A>C (p.Gln1154Pro)
c.3557A>C (p.Gln1186Pro)
c.3488A>C (p.Gln1163Pro)
c.3584A>C (p.Gln1195Pro)
c.*1568A>C (n.*1568A>C)
n.1723A>C
c.3587A>C (p.Gln1196Pro)
c.3545A>C (p.Gln1182Pro)
c.3530A>C (p.Gln1177Pro)
c.3518A>C (p.Gln1173Pro)
c.3491A>C (p.Gln1164Pro)
c.3473A>C (p.Gln1158Pro)
n.3786A>C
 dbSNP
6g.75914180A>GCA364761814MYO6c.3461A>G (p.Gln1154Arg)
c.3557A>G (p.Gln1186Arg)
c.3488A>G (p.Gln1163Arg)
c.3584A>G (p.Gln1195Arg)
c.*1568A>G (n.*1568A>G)
n.1723A>G
c.3587A>G (p.Gln1196Arg)
c.3545A>G (p.Gln1182Arg)
c.3530A>G (p.Gln1177Arg)
c.3518A>G (p.Gln1173Arg)
c.3491A>G (p.Gln1164Arg)
c.3473A>G (p.Gln1158Arg)
n.3786A>G
 gnomAD v4
6g.75914180A>TCA364761817MYO6c.3461A>T (p.Gln1154Leu)
c.3557A>T (p.Gln1186Leu)
c.3488A>T (p.Gln1163Leu)
c.3584A>T (p.Gln1195Leu)
c.*1568A>T (n.*1568A>T)
n.1723A>T
c.3587A>T (p.Gln1196Leu)
c.3545A>T (p.Gln1182Leu)
c.3530A>T (p.Gln1177Leu)
c.3518A>T (p.Gln1173Leu)
c.3491A>T (p.Gln1164Leu)
c.3473A>T (p.Gln1158Leu)
n.3786A>T
6g.75914181G>ACA450938534MYO6c.3462G>A (p.Gln1154=)
c.3558G>A (p.Gln1186=)
c.3489G>A (p.Gln1163=)
c.3585G>A (p.Gln1195=)
c.*1569G>A (n.*1569G>A)
n.1724G>A
c.3588G>A (p.Gln1196=)
c.3546G>A (p.Gln1182=)
c.3531G>A (p.Gln1177=)
c.3519G>A (p.Gln1173=)
c.3492G>A (p.Gln1164=)
c.3474G>A (p.Gln1158=)
n.3787G>A
6g.75914181G>CCA364761827MYO6c.3462G>C (p.Gln1154His)
c.3558G>C (p.Gln1186His)
c.3489G>C (p.Gln1163His)
c.3585G>C (p.Gln1195His)
c.*1569G>C (n.*1569G>C)
n.1724G>C
c.3588G>C (p.Gln1196His)
c.3546G>C (p.Gln1182His)
c.3531G>C (p.Gln1177His)
c.3519G>C (p.Gln1173His)
c.3492G>C (p.Gln1164His)
c.3474G>C (p.Gln1158His)
n.3787G>C
6g.75914181G>TCA364761829MYO6c.3462G>T (p.Gln1154His)
c.3558G>T (p.Gln1186His)
c.3489G>T (p.Gln1163His)
c.3585G>T (p.Gln1195His)
c.*1569G>T (n.*1569G>T)
n.1724G>T
c.3588G>T (p.Gln1196His)
c.3546G>T (p.Gln1182His)
c.3531G>T (p.Gln1177His)
c.3519G>T (p.Gln1173His)
c.3492G>T (p.Gln1164His)
c.3474G>T (p.Gln1158His)
n.3787G>T
6g.75914182A>CCA364761831MYO6c.3463A>C (p.Ser1155Arg)
c.3559A>C (p.Ser1187Arg)
c.3490A>C (p.Ser1164Arg)
c.3586A>C (p.Ser1196Arg)
c.*1570A>C (n.*1570A>C)
n.1725A>C
c.3589A>C (p.Ser1197Arg)
c.3547A>C (p.Ser1183Arg)
c.3532A>C (p.Ser1178Arg)
c.3520A>C (p.Ser1174Arg)
c.3493A>C (p.Ser1165Arg)
c.3475A>C (p.Ser1159Arg)
n.3788A>C
 gnomAD v4
6g.75914182A>GCA364761832MYO6c.3463A>G (p.Ser1155Gly)
c.3559A>G (p.Ser1187Gly)
c.3490A>G (p.Ser1164Gly)
c.3586A>G (p.Ser1196Gly)
c.*1570A>G (n.*1570A>G)
n.1725A>G
c.3589A>G (p.Ser1197Gly)
c.3547A>G (p.Ser1183Gly)
c.3532A>G (p.Ser1178Gly)
c.3520A>G (p.Ser1174Gly)
c.3493A>G (p.Ser1165Gly)
c.3475A>G (p.Ser1159Gly)
n.3788A>G
6g.75914182A>TCA364761830MYO6c.3463A>T (p.Ser1155Cys)
c.3559A>T (p.Ser1187Cys)
c.3490A>T (p.Ser1164Cys)
c.3586A>T (p.Ser1196Cys)
c.*1570A>T (n.*1570A>T)
n.1725A>T
c.3589A>T (p.Ser1197Cys)
c.3547A>T (p.Ser1183Cys)
c.3532A>T (p.Ser1178Cys)
c.3520A>T (p.Ser1174Cys)
c.3493A>T (p.Ser1165Cys)
c.3475A>T (p.Ser1159Cys)
n.3788A>T
6g.75914183G>ACA364761833MYO6c.3464G>A (p.Ser1155Asn)
c.3560G>A (p.Ser1187Asn)
c.3491G>A (p.Ser1164Asn)
c.3587G>A (p.Ser1196Asn)
c.*1571G>A (n.*1571G>A)
n.1726G>A
c.3590G>A (p.Ser1197Asn)
c.3548G>A (p.Ser1183Asn)
c.3533G>A (p.Ser1178Asn)
c.3521G>A (p.Ser1174Asn)
c.3494G>A (p.Ser1165Asn)
c.3476G>A (p.Ser1159Asn)
n.3789G>A
6g.75914183G>CCA364761842MYO6c.3464G>C (p.Ser1155Thr)
c.3560G>C (p.Ser1187Thr)
c.3491G>C (p.Ser1164Thr)
c.3587G>C (p.Ser1196Thr)
c.*1571G>C (n.*1571G>C)
n.1726G>C
c.3590G>C (p.Ser1197Thr)
c.3548G>C (p.Ser1183Thr)
c.3533G>C (p.Ser1178Thr)
c.3521G>C (p.Ser1174Thr)
c.3494G>C (p.Ser1165Thr)
c.3476G>C (p.Ser1159Thr)
n.3789G>C
6g.75914183G>TCA364761836MYO6c.3464G>T (p.Ser1155Ile)
c.3560G>T (p.Ser1187Ile)
c.3491G>T (p.Ser1164Ile)
c.3587G>T (p.Ser1196Ile)
c.*1571G>T (n.*1571G>T)
n.1726G>T
c.3590G>T (p.Ser1197Ile)
c.3548G>T (p.Ser1183Ile)
c.3533G>T (p.Ser1178Ile)
c.3521G>T (p.Ser1174Ile)
c.3494G>T (p.Ser1165Ile)
c.3476G>T (p.Ser1159Ile)
n.3789G>T
6g.75914184T>ACA364761851MYO6c.3465T>A (p.Ser1155Arg)
c.3561T>A (p.Ser1187Arg)
c.3492T>A (p.Ser1164Arg)
c.3588T>A (p.Ser1196Arg)
c.*1572T>A (n.*1572T>A)
n.1727T>A
c.3591T>A (p.Ser1197Arg)
c.3549T>A (p.Ser1183Arg)
c.3534T>A (p.Ser1178Arg)
c.3522T>A (p.Ser1174Arg)
c.3495T>A (p.Ser1165Arg)
c.3477T>A (p.Ser1159Arg)
n.3790T>A
6g.75914184T>CCA450938535MYO6c.3465T>C (p.Ser1155=)
c.3561T>C (p.Ser1187=)
c.3492T>C (p.Ser1164=)
c.3588T>C (p.Ser1196=)
c.*1572T>C (n.*1572T>C)
n.1727T>C
c.3591T>C (p.Ser1197=)
c.3549T>C (p.Ser1183=)
c.3534T>C (p.Ser1178=)
c.3522T>C (p.Ser1174=)
c.3495T>C (p.Ser1165=)
c.3477T>C (p.Ser1159=)
n.3790T>C
6g.75914184T>GCA364761856MYO6c.3465T>G (p.Ser1155Arg)
c.3561T>G (p.Ser1187Arg)
c.3492T>G (p.Ser1164Arg)
c.3588T>G (p.Ser1196Arg)
c.*1572T>G (n.*1572T>G)
n.1727T>G
c.3591T>G (p.Ser1197Arg)
c.3549T>G (p.Ser1183Arg)
c.3534T>G (p.Ser1178Arg)
c.3522T>G (p.Ser1174Arg)
c.3495T>G (p.Ser1165Arg)
c.3477T>G (p.Ser1159Arg)
n.3790T>G
6g.75914185A>CCA364761862MYO6c.3466A>C (p.Lys1156Gln)
c.3562A>C (p.Lys1188Gln)
c.3493A>C (p.Lys1165Gln)
c.3589A>C (p.Lys1197Gln)
c.*1573A>C (n.*1573A>C)
n.1728A>C
c.3592A>C (p.Lys1198Gln)
c.3550A>C (p.Lys1184Gln)
c.3535A>C (p.Lys1179Gln)
c.3523A>C (p.Lys1175Gln)
c.3496A>C (p.Lys1166Gln)
c.3478A>C (p.Lys1160Gln)
n.3791A>C
6g.75914185A>GCA364761866MYO6c.3466A>G (p.Lys1156Glu)
c.3562A>G (p.Lys1188Glu)
c.3493A>G (p.Lys1165Glu)
c.3589A>G (p.Lys1197Glu)
c.*1573A>G (n.*1573A>G)
n.1728A>G
c.3592A>G (p.Lys1198Glu)
c.3550A>G (p.Lys1184Glu)
c.3535A>G (p.Lys1179Glu)
c.3523A>G (p.Lys1175Glu)
c.3496A>G (p.Lys1166Glu)
c.3478A>G (p.Lys1160Glu)
n.3791A>G
6g.75914185A>TCA364761869MYO6c.3466A>T (p.Lys1156Ter)
c.3562A>T (p.Lys1188Ter)
c.3493A>T (p.Lys1165Ter)
c.3589A>T (p.Lys1197Ter)
c.*1573A>T (n.*1573A>T)
n.1728A>T
c.3592A>T (p.Lys1198Ter)
c.3550A>T (p.Lys1184Ter)
c.3535A>T (p.Lys1179Ter)
c.3523A>T (p.Lys1175Ter)
c.3496A>T (p.Lys1166Ter)
c.3478A>T (p.Lys1160Ter)
n.3791A>T
6g.75914186A>CCA364761872MYO6c.3467A>C (p.Lys1156Thr)
c.3563A>C (p.Lys1188Thr)
c.3494A>C (p.Lys1165Thr)
c.3590A>C (p.Lys1197Thr)
c.*1574A>C (n.*1574A>C)
n.1729A>C
c.3593A>C (p.Lys1198Thr)
c.3551A>C (p.Lys1184Thr)
c.3536A>C (p.Lys1179Thr)
c.3524A>C (p.Lys1175Thr)
c.3497A>C (p.Lys1166Thr)
c.3479A>C (p.Lys1160Thr)
n.3792A>C
6g.75914186A>GCA135633MYO6c.3467A>G (p.Lys1156Arg)
c.3563A>G (p.Lys1188Arg)
c.3494A>G (p.Lys1165Arg)
c.3590A>G (p.Lys1197Arg)
c.*1574A>G (n.*1574A>G)
n.1729A>G
c.3593A>G (p.Lys1198Arg)
c.3551A>G (p.Lys1184Arg)
c.3536A>G (p.Lys1179Arg)
c.3524A>G (p.Lys1175Arg)
c.3497A>G (p.Lys1166Arg)
c.3479A>G (p.Lys1160Arg)
n.3792A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914186A>TCA364761879MYO6c.3467A>T (p.Lys1156Met)
c.3563A>T (p.Lys1188Met)
c.3494A>T (p.Lys1165Met)
c.3590A>T (p.Lys1197Met)
c.*1574A>T (n.*1574A>T)
n.1729A>T
c.3593A>T (p.Lys1198Met)
c.3551A>T (p.Lys1184Met)
c.3536A>T (p.Lys1179Met)
c.3524A>T (p.Lys1175Met)
c.3497A>T (p.Lys1166Met)
c.3479A>T (p.Lys1160Met)
n.3792A>T
6g.75914187G>ACA450938536MYO6c.3468G>A (p.Lys1156=)
c.3564G>A (p.Lys1188=)
c.3495G>A (p.Lys1165=)
c.3591G>A (p.Lys1197=)
c.*1575G>A (n.*1575G>A)
n.1730G>A
c.3594G>A (p.Lys1198=)
c.3552G>A (p.Lys1184=)
c.3537G>A (p.Lys1179=)
c.3525G>A (p.Lys1175=)
c.3498G>A (p.Lys1166=)
c.3480G>A (p.Lys1160=)
n.3793G>A
6g.75914187G>CCA364761884MYO6c.3468G>C (p.Lys1156Asn)
c.3564G>C (p.Lys1188Asn)
c.3495G>C (p.Lys1165Asn)
c.3591G>C (p.Lys1197Asn)
c.*1575G>C (n.*1575G>C)
n.1730G>C
c.3594G>C (p.Lys1198Asn)
c.3552G>C (p.Lys1184Asn)
c.3537G>C (p.Lys1179Asn)
c.3525G>C (p.Lys1175Asn)
c.3498G>C (p.Lys1166Asn)
c.3480G>C (p.Lys1160Asn)
n.3793G>C
6g.75914187G>TCA364761890MYO6c.3468G>T (p.Lys1156Asn)
c.3564G>T (p.Lys1188Asn)
c.3495G>T (p.Lys1165Asn)
c.3591G>T (p.Lys1197Asn)
c.*1575G>T (n.*1575G>T)
n.1730G>T
c.3594G>T (p.Lys1198Asn)
c.3552G>T (p.Lys1184Asn)
c.3537G>T (p.Lys1179Asn)
c.3525G>T (p.Lys1175Asn)
c.3498G>T (p.Lys1166Asn)
c.3480G>T (p.Lys1160Asn)
n.3793G>T
6g.75914188A>CCA364761907MYO6c.3469A>C (p.Lys1157Gln)
c.3565A>C (p.Lys1189Gln)
c.3496A>C (p.Lys1166Gln)
c.3592A>C (p.Lys1198Gln)
c.*1576A>C (n.*1576A>C)
n.1731A>C
c.3595A>C (p.Lys1199Gln)
c.3553A>C (p.Lys1185Gln)
c.3538A>C (p.Lys1180Gln)
c.3526A>C (p.Lys1176Gln)
c.3499A>C (p.Lys1167Gln)
c.3481A>C (p.Lys1161Gln)
n.3794A>C
 dbSNP gnomAD v2 gnomAD v4
6g.75914188A>GCA3897763MYO6c.3469A>G (p.Lys1157Glu)
c.3565A>G (p.Lys1189Glu)
c.3496A>G (p.Lys1166Glu)
c.3592A>G (p.Lys1198Glu)
c.*1576A>G (n.*1576A>G)
n.1731A>G
c.3595A>G (p.Lys1199Glu)
c.3553A>G (p.Lys1185Glu)
c.3538A>G (p.Lys1180Glu)
c.3526A>G (p.Lys1176Glu)
c.3499A>G (p.Lys1167Glu)
c.3481A>G (p.Lys1161Glu)
n.3794A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914188A>TCA364761916MYO6c.3469A>T (p.Lys1157Ter)
c.3565A>T (p.Lys1189Ter)
c.3496A>T (p.Lys1166Ter)
c.3592A>T (p.Lys1198Ter)
c.*1576A>T (n.*1576A>T)
n.1731A>T
c.3595A>T (p.Lys1199Ter)
c.3553A>T (p.Lys1185Ter)
c.3538A>T (p.Lys1180Ter)
c.3526A>T (p.Lys1176Ter)
c.3499A>T (p.Lys1167Ter)
c.3481A>T (p.Lys1161Ter)
n.3794A>T
6g.75914189A>CCA364761921MYO6c.3470A>C (p.Lys1157Thr)
c.3566A>C (p.Lys1189Thr)
c.3497A>C (p.Lys1166Thr)
c.3593A>C (p.Lys1198Thr)
c.*1577A>C (n.*1577A>C)
n.1732A>C
c.3596A>C (p.Lys1199Thr)
c.3554A>C (p.Lys1185Thr)
c.3539A>C (p.Lys1180Thr)
c.3527A>C (p.Lys1176Thr)
c.3500A>C (p.Lys1167Thr)
c.3482A>C (p.Lys1161Thr)
n.3795A>C
 gnomAD v4 COSMIC
6g.75914189A>GCA364761918MYO6c.3470A>G (p.Lys1157Arg)
c.3566A>G (p.Lys1189Arg)
c.3497A>G (p.Lys1166Arg)
c.3593A>G (p.Lys1198Arg)
c.*1577A>G (n.*1577A>G)
n.1732A>G
c.3596A>G (p.Lys1199Arg)
c.3554A>G (p.Lys1185Arg)
c.3539A>G (p.Lys1180Arg)
c.3527A>G (p.Lys1176Arg)
c.3500A>G (p.Lys1167Arg)
c.3482A>G (p.Lys1161Arg)
n.3795A>G
 gnomAD v4
6g.75914189A>TCA364761919MYO6c.3470A>T (p.Lys1157Ile)
c.3566A>T (p.Lys1189Ile)
c.3497A>T (p.Lys1166Ile)
c.3593A>T (p.Lys1198Ile)
c.*1577A>T (n.*1577A>T)
n.1732A>T
c.3596A>T (p.Lys1199Ile)
c.3554A>T (p.Lys1185Ile)
c.3539A>T (p.Lys1180Ile)
c.3527A>T (p.Lys1176Ile)
c.3500A>T (p.Lys1167Ile)
c.3482A>T (p.Lys1161Ile)
n.3795A>T
 gnomAD v4 COSMIC COSMIC
6g.75914190A>CCA364761924MYO6c.3471A>C (p.Lys1157Asn)
c.3567A>C (p.Lys1189Asn)
c.3498A>C (p.Lys1166Asn)
c.3594A>C (p.Lys1198Asn)
c.*1578A>C (n.*1578A>C)
n.1733A>C
c.3597A>C (p.Lys1199Asn)
c.3555A>C (p.Lys1185Asn)
c.3540A>C (p.Lys1180Asn)
c.3528A>C (p.Lys1176Asn)
c.3501A>C (p.Lys1167Asn)
c.3483A>C (p.Lys1161Asn)
n.3796A>C
6g.75914190A>GCA450938538MYO6c.3471A>G (p.Lys1157=)
c.3567A>G (p.Lys1189=)
c.3498A>G (p.Lys1166=)
c.3594A>G (p.Lys1198=)
c.*1578A>G (n.*1578A>G)
n.1733A>G
c.3597A>G (p.Lys1199=)
c.3555A>G (p.Lys1185=)
c.3540A>G (p.Lys1180=)
c.3528A>G (p.Lys1176=)
c.3501A>G (p.Lys1167=)
c.3483A>G (p.Lys1161=)
n.3796A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.75914190A>TCA364761926MYO6c.3471A>T (p.Lys1157Asn)
c.3567A>T (p.Lys1189Asn)
c.3498A>T (p.Lys1166Asn)
c.3594A>T (p.Lys1198Asn)
c.*1578A>T (n.*1578A>T)
n.1733A>T
c.3597A>T (p.Lys1199Asn)
c.3555A>T (p.Lys1185Asn)
c.3540A>T (p.Lys1180Asn)
c.3528A>T (p.Lys1176Asn)
c.3501A>T (p.Lys1167Asn)
c.3483A>T (p.Lys1161Asn)
n.3796A>T
6g.75914191A>CCA364761934MYO6c.3472A>C (p.Lys1158Gln)
c.3568A>C (p.Lys1190Gln)
c.3499A>C (p.Lys1167Gln)
c.3595A>C (p.Lys1199Gln)
c.*1579A>C (n.*1579A>C)
n.1734A>C
c.3598A>C (p.Lys1200Gln)
c.3556A>C (p.Lys1186Gln)
c.3541A>C (p.Lys1181Gln)
c.3529A>C (p.Lys1177Gln)
c.3502A>C (p.Lys1168Gln)
c.3484A>C (p.Lys1162Gln)
n.3797A>C
6g.75914191A>GCA364761935MYO6c.3472A>G (p.Lys1158Glu)
c.3568A>G (p.Lys1190Glu)
c.3499A>G (p.Lys1167Glu)
c.3595A>G (p.Lys1199Glu)
c.*1579A>G (n.*1579A>G)
n.1734A>G
c.3598A>G (p.Lys1200Glu)
c.3556A>G (p.Lys1186Glu)
c.3541A>G (p.Lys1181Glu)
c.3529A>G (p.Lys1177Glu)
c.3502A>G (p.Lys1168Glu)
c.3484A>G (p.Lys1162Glu)
n.3797A>G
6g.75914191A>TCA364761936MYO6c.3472A>T (p.Lys1158Ter)
c.3568A>T (p.Lys1190Ter)
c.3499A>T (p.Lys1167Ter)
c.3595A>T (p.Lys1199Ter)
c.*1579A>T (n.*1579A>T)
n.1734A>T
c.3598A>T (p.Lys1200Ter)
c.3556A>T (p.Lys1186Ter)
c.3541A>T (p.Lys1181Ter)
c.3529A>T (p.Lys1177Ter)
c.3502A>T (p.Lys1168Ter)
c.3484A>T (p.Lys1162Ter)
n.3797A>T
6g.75914192A>CCA364761937MYO6c.3473A>C (p.Lys1158Thr)
c.3569A>C (p.Lys1190Thr)
c.3500A>C (p.Lys1167Thr)
c.3596A>C (p.Lys1199Thr)
c.*1580A>C (n.*1580A>C)
n.1735A>C
c.3599A>C (p.Lys1200Thr)
c.3557A>C (p.Lys1186Thr)
c.3542A>C (p.Lys1181Thr)
c.3530A>C (p.Lys1177Thr)
c.3503A>C (p.Lys1168Thr)
c.3485A>C (p.Lys1162Thr)
n.3798A>C
6g.75914192A>GCA364761941MYO6c.3473A>G (p.Lys1158Arg)
c.3569A>G (p.Lys1190Arg)
c.3500A>G (p.Lys1167Arg)
c.3596A>G (p.Lys1199Arg)
c.*1580A>G (n.*1580A>G)
n.1735A>G
c.3599A>G (p.Lys1200Arg)
c.3557A>G (p.Lys1186Arg)
c.3542A>G (p.Lys1181Arg)
c.3530A>G (p.Lys1177Arg)
c.3503A>G (p.Lys1168Arg)
c.3485A>G (p.Lys1162Arg)
n.3798A>G
6g.75914192A>TCA364761943MYO6c.3473A>T (p.Lys1158Ile)
c.3569A>T (p.Lys1190Ile)
c.3500A>T (p.Lys1167Ile)
c.3596A>T (p.Lys1199Ile)
c.*1580A>T (n.*1580A>T)
n.1735A>T
c.3599A>T (p.Lys1200Ile)
c.3557A>T (p.Lys1186Ile)
c.3542A>T (p.Lys1181Ile)
c.3530A>T (p.Lys1177Ile)
c.3503A>T (p.Lys1168Ile)
c.3485A>T (p.Lys1162Ile)
n.3798A>T
6g.75914193A>CCA364761948MYO6c.3474A>C (p.Lys1158Asn)
c.3570A>C (p.Lys1190Asn)
c.3501A>C (p.Lys1167Asn)
c.3597A>C (p.Lys1199Asn)
c.*1581A>C (n.*1581A>C)
n.1736A>C
c.3600A>C (p.Lys1200Asn)
c.3558A>C (p.Lys1186Asn)
c.3543A>C (p.Lys1181Asn)
c.3531A>C (p.Lys1177Asn)
c.3504A>C (p.Lys1168Asn)
c.3486A>C (p.Lys1162Asn)
n.3799A>C
6g.75914193A>GCA450938539MYO6c.3474A>G (p.Lys1158=)
c.3570A>G (p.Lys1190=)
c.3501A>G (p.Lys1167=)
c.3597A>G (p.Lys1199=)
c.*1581A>G (n.*1581A>G)
n.1736A>G
c.3600A>G (p.Lys1200=)
c.3558A>G (p.Lys1186=)
c.3543A>G (p.Lys1181=)
c.3531A>G (p.Lys1177=)
c.3504A>G (p.Lys1168=)
c.3486A>G (p.Lys1162=)
n.3799A>G
6g.75914193A>TCA364761952MYO6c.3474A>T (p.Lys1158Asn)
c.3570A>T (p.Lys1190Asn)
c.3501A>T (p.Lys1167Asn)
c.3597A>T (p.Lys1199Asn)
c.*1581A>T (n.*1581A>T)
n.1736A>T
c.3600A>T (p.Lys1200Asn)
c.3558A>T (p.Lys1186Asn)
c.3543A>T (p.Lys1181Asn)
c.3531A>T (p.Lys1177Asn)
c.3504A>T (p.Lys1168Asn)
c.3486A>T (p.Lys1162Asn)
n.3799A>T
6g.75914194G>ACA3897764MYO6c.3475G>A (p.Gly1159Ser)
c.3571G>A (p.Gly1191Ser)
c.3502G>A (p.Gly1168Ser)
c.3598G>A (p.Gly1200Ser)
c.*1582G>A (n.*1582G>A)
n.1737G>A
c.3601G>A (p.Gly1201Ser)
c.3559G>A (p.Gly1187Ser)
c.3544G>A (p.Gly1182Ser)
c.3532G>A (p.Gly1178Ser)
c.3505G>A (p.Gly1169Ser)
c.3487G>A (p.Gly1163Ser)
n.3800G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914194G>CCA364761954MYO6c.3475G>C (p.Gly1159Arg)
c.3571G>C (p.Gly1191Arg)
c.3502G>C (p.Gly1168Arg)
c.3598G>C (p.Gly1200Arg)
c.*1582G>C (n.*1582G>C)
n.1737G>C
c.3601G>C (p.Gly1201Arg)
c.3559G>C (p.Gly1187Arg)
c.3544G>C (p.Gly1182Arg)
c.3532G>C (p.Gly1178Arg)
c.3505G>C (p.Gly1169Arg)
c.3487G>C (p.Gly1163Arg)
n.3800G>C
6g.75914194G>TCA364761953MYO6c.3475G>T (p.Gly1159Cys)
c.3571G>T (p.Gly1191Cys)
c.3502G>T (p.Gly1168Cys)
c.3598G>T (p.Gly1200Cys)
c.*1582G>T (n.*1582G>T)
n.1737G>T
c.3601G>T (p.Gly1201Cys)
c.3559G>T (p.Gly1187Cys)
c.3544G>T (p.Gly1182Cys)
c.3532G>T (p.Gly1178Cys)
c.3505G>T (p.Gly1169Cys)
c.3487G>T (p.Gly1163Cys)
n.3800G>T
6g.75914195G>ACA364761956MYO6c.3476G>A (p.Gly1159Asp)
c.3572G>A (p.Gly1191Asp)
c.3503G>A (p.Gly1168Asp)
c.3599G>A (p.Gly1200Asp)
c.*1583G>A (n.*1583G>A)
n.1738G>A
c.3602G>A (p.Gly1201Asp)
c.3560G>A (p.Gly1187Asp)
c.3545G>A (p.Gly1182Asp)
c.3533G>A (p.Gly1178Asp)
c.3506G>A (p.Gly1169Asp)
c.3488G>A (p.Gly1163Asp)
n.3801G>A
6g.75914195G>CCA364761959MYO6c.3476G>C (p.Gly1159Ala)
c.3572G>C (p.Gly1191Ala)
c.3503G>C (p.Gly1168Ala)
c.3599G>C (p.Gly1200Ala)
c.*1583G>C (n.*1583G>C)
n.1738G>C
c.3602G>C (p.Gly1201Ala)
c.3560G>C (p.Gly1187Ala)
c.3545G>C (p.Gly1182Ala)
c.3533G>C (p.Gly1178Ala)
c.3506G>C (p.Gly1169Ala)
c.3488G>C (p.Gly1163Ala)
n.3801G>C
6g.75914195G>TCA364761962MYO6c.3476G>T (p.Gly1159Val)
c.3572G>T (p.Gly1191Val)
c.3503G>T (p.Gly1168Val)
c.3599G>T (p.Gly1200Val)
c.*1583G>T (n.*1583G>T)
n.1738G>T
c.3602G>T (p.Gly1201Val)
c.3560G>T (p.Gly1187Val)
c.3545G>T (p.Gly1182Val)
c.3533G>T (p.Gly1178Val)
c.3506G>T (p.Gly1169Val)
c.3488G>T (p.Gly1163Val)
n.3801G>T
 gnomAD v4
6g.75914196C>ACA450938540MYO6c.3477C>A (p.Gly1159=)
c.3573C>A (p.Gly1191=)
c.3504C>A (p.Gly1168=)
c.3600C>A (p.Gly1200=)
c.*1584C>A (n.*1584C>A)
n.1739C>A
c.3603C>A (p.Gly1201=)
c.3561C>A (p.Gly1187=)
c.3546C>A (p.Gly1182=)
c.3534C>A (p.Gly1178=)
c.3507C>A (p.Gly1169=)
c.3489C>A (p.Gly1163=)
n.3802C>A
6g.75914196C>GCA450938541MYO6c.3477C>G (p.Gly1159=)
c.3573C>G (p.Gly1191=)
c.3504C>G (p.Gly1168=)
c.3600C>G (p.Gly1200=)
c.*1584C>G (n.*1584C>G)
n.1739C>G
c.3603C>G (p.Gly1201=)
c.3561C>G (p.Gly1187=)
c.3546C>G (p.Gly1182=)
c.3534C>G (p.Gly1178=)
c.3507C>G (p.Gly1169=)
c.3489C>G (p.Gly1163=)
n.3802C>G
6g.75914196C>TCA450938542MYO6c.3477C>T (p.Gly1159=)
c.3573C>T (p.Gly1191=)
c.3504C>T (p.Gly1168=)
c.3600C>T (p.Gly1200=)
c.*1584C>T (n.*1584C>T)
n.1739C>T
c.3603C>T (p.Gly1201=)
c.3561C>T (p.Gly1187=)
c.3546C>T (p.Gly1182=)
c.3534C>T (p.Gly1178=)
c.3507C>T (p.Gly1169=)
c.3489C>T (p.Gly1163=)
n.3802C>T
6g.75914197T>ACA3897765MYO6c.3478T>A (p.Trp1160Arg)
c.3574T>A (p.Trp1192Arg)
c.3505T>A (p.Trp1169Arg)
c.3601T>A (p.Trp1201Arg)
c.*1585T>A (n.*1585T>A)
n.1740T>A
c.3604T>A (p.Trp1202Arg)
c.3562T>A (p.Trp1188Arg)
c.3547T>A (p.Trp1183Arg)
c.3535T>A (p.Trp1179Arg)
c.3508T>A (p.Trp1170Arg)
c.3490T>A (p.Trp1164Arg)
n.3803T>A
 dbSNP ExAC gnomAD v4
6g.75914197T>CCA364761963MYO6c.3478T>C (p.Trp1160Arg)
c.3574T>C (p.Trp1192Arg)
c.3505T>C (p.Trp1169Arg)
c.3601T>C (p.Trp1201Arg)
c.*1585T>C (n.*1585T>C)
n.1740T>C
c.3604T>C (p.Trp1202Arg)
c.3562T>C (p.Trp1188Arg)
c.3547T>C (p.Trp1183Arg)
c.3535T>C (p.Trp1179Arg)
c.3508T>C (p.Trp1170Arg)
c.3490T>C (p.Trp1164Arg)
n.3803T>C
6g.75914197T>GCA364761964MYO6c.3478T>G (p.Trp1160Gly)
c.3574T>G (p.Trp1192Gly)
c.3505T>G (p.Trp1169Gly)
c.3601T>G (p.Trp1201Gly)
c.*1585T>G (n.*1585T>G)
n.1740T>G
c.3604T>G (p.Trp1202Gly)
c.3562T>G (p.Trp1188Gly)
c.3547T>G (p.Trp1183Gly)
c.3535T>G (p.Trp1179Gly)
c.3508T>G (p.Trp1170Gly)
c.3490T>G (p.Trp1164Gly)
n.3803T>G
6g.75914198G>ACA364761967MYO6c.3479G>A (p.Trp1160Ter)
c.3575G>A (p.Trp1192Ter)
c.3506G>A (p.Trp1169Ter)
c.3602G>A (p.Trp1201Ter)
c.*1586G>A (n.*1586G>A)
n.1741G>A
c.3605G>A (p.Trp1202Ter)
c.3563G>A (p.Trp1188Ter)
c.3548G>A (p.Trp1183Ter)
c.3536G>A (p.Trp1179Ter)
c.3509G>A (p.Trp1170Ter)
c.3491G>A (p.Trp1164Ter)
n.3804G>A
6g.75914198G>CCA364761968MYO6c.3479G>C (p.Trp1160Ser)
c.3575G>C (p.Trp1192Ser)
c.3506G>C (p.Trp1169Ser)
c.3602G>C (p.Trp1201Ser)
c.*1586G>C (n.*1586G>C)
n.1741G>C
c.3605G>C (p.Trp1202Ser)
c.3563G>C (p.Trp1188Ser)
c.3548G>C (p.Trp1183Ser)
c.3536G>C (p.Trp1179Ser)
c.3509G>C (p.Trp1170Ser)
c.3491G>C (p.Trp1164Ser)
n.3804G>C
6g.75914198G>TCA364761969MYO6c.3479G>T (p.Trp1160Leu)
c.3575G>T (p.Trp1192Leu)
c.3506G>T (p.Trp1169Leu)
c.3602G>T (p.Trp1201Leu)
c.*1586G>T (n.*1586G>T)
n.1741G>T
c.3605G>T (p.Trp1202Leu)
c.3563G>T (p.Trp1188Leu)
c.3548G>T (p.Trp1183Leu)
c.3536G>T (p.Trp1179Leu)
c.3509G>T (p.Trp1170Leu)
c.3491G>T (p.Trp1164Leu)
n.3804G>T
6g.75914198_75914199dupCA828153292MYO6c.3479_3480dup (p.Trp1161GlyfsTer?)
c.3575_3576dup (p.Trp1193GlyfsTer?)
c.3506_3507dup (p.Trp1170GlyfsTer?)
c.3602_3603dup (p.Trp1202GlyfsTer?)
c.*1586_*1587dup (n.*1586_*1587dup)
n.1741_1742dup
c.3605_3606dup (p.Trp1203GlyfsTer?)
c.3563_3564dup (p.Trp1189GlyfsTer?)
c.3548_3549dup (p.Trp1184GlyfsTer?)
c.3536_3537dup (p.Trp1180GlyfsTer?)
c.3509_3510dup (p.Trp1171GlyfsTer?)
c.3491_3492dup (p.Trp1165GlyfsTer?)
n.3804_3805dup
 dbSNP gnomAD v3 gnomAD v4
6g.75914199G>ACA364761970MYO6c.3480G>A (p.Trp1160Ter)
c.3576G>A (p.Trp1192Ter)
c.3507G>A (p.Trp1169Ter)
c.3603G>A (p.Trp1201Ter)
c.*1587G>A (n.*1587G>A)
n.1742G>A
c.3606G>A (p.Trp1202Ter)
c.3564G>A (p.Trp1188Ter)
c.3549G>A (p.Trp1183Ter)
c.3537G>A (p.Trp1179Ter)
c.3510G>A (p.Trp1170Ter)
c.3492G>A (p.Trp1164Ter)
n.3805G>A
6g.75914199G>CCA364761971MYO6c.3480G>C (p.Trp1160Cys)
c.3576G>C (p.Trp1192Cys)
c.3507G>C (p.Trp1169Cys)
c.3603G>C (p.Trp1201Cys)
c.*1587G>C (n.*1587G>C)
n.1742G>C
c.3606G>C (p.Trp1202Cys)
c.3564G>C (p.Trp1188Cys)
c.3549G>C (p.Trp1183Cys)
c.3537G>C (p.Trp1179Cys)
c.3510G>C (p.Trp1170Cys)
c.3492G>C (p.Trp1164Cys)
n.3805G>C
6g.75914199G>TCA364761972MYO6c.3480G>T (p.Trp1160Cys)
c.3576G>T (p.Trp1192Cys)
c.3507G>T (p.Trp1169Cys)
c.3603G>T (p.Trp1201Cys)
c.*1587G>T (n.*1587G>T)
n.1742G>T
c.3606G>T (p.Trp1202Cys)
c.3564G>T (p.Trp1188Cys)
c.3549G>T (p.Trp1183Cys)
c.3537G>T (p.Trp1179Cys)
c.3510G>T (p.Trp1170Cys)
c.3492G>T (p.Trp1164Cys)
n.3805G>T
6g.75914200T>ACA364761975MYO6c.3481T>A (p.Trp1161Arg)
c.3577T>A (p.Trp1193Arg)
c.3508T>A (p.Trp1170Arg)
c.3604T>A (p.Trp1202Arg)
c.*1588T>A (n.*1588T>A)
n.1743T>A
c.3607T>A (p.Trp1203Arg)
c.3565T>A (p.Trp1189Arg)
c.3550T>A (p.Trp1184Arg)
c.3538T>A (p.Trp1180Arg)
c.3511T>A (p.Trp1171Arg)
c.3493T>A (p.Trp1165Arg)
n.3806T>A
6g.75914200T>CCA364761973MYO6c.3481T>C (p.Trp1161Arg)
c.3577T>C (p.Trp1193Arg)
c.3508T>C (p.Trp1170Arg)
c.3604T>C (p.Trp1202Arg)
c.*1588T>C (n.*1588T>C)
n.1743T>C
c.3607T>C (p.Trp1203Arg)
c.3565T>C (p.Trp1189Arg)
c.3550T>C (p.Trp1184Arg)
c.3538T>C (p.Trp1180Arg)
c.3511T>C (p.Trp1171Arg)
c.3493T>C (p.Trp1165Arg)
n.3806T>C
 ClinVar dbSNP
6g.75914200T>GCA364761974MYO6c.3481T>G (p.Trp1161Gly)
c.3577T>G (p.Trp1193Gly)
c.3508T>G (p.Trp1170Gly)
c.3604T>G (p.Trp1202Gly)
c.*1588T>G (n.*1588T>G)
n.1743T>G
c.3607T>G (p.Trp1203Gly)
c.3565T>G (p.Trp1189Gly)
c.3550T>G (p.Trp1184Gly)
c.3538T>G (p.Trp1180Gly)
c.3511T>G (p.Trp1171Gly)
c.3493T>G (p.Trp1165Gly)
n.3806T>G
6g.75914201G>ACA364761976MYO6c.3482G>A (p.Trp1161Ter)
c.3578G>A (p.Trp1193Ter)
c.3509G>A (p.Trp1170Ter)
c.3605G>A (p.Trp1202Ter)
c.*1589G>A (n.*1589G>A)
n.1744G>A
c.3608G>A (p.Trp1203Ter)
c.3566G>A (p.Trp1189Ter)
c.3551G>A (p.Trp1184Ter)
c.3539G>A (p.Trp1180Ter)
c.3512G>A (p.Trp1171Ter)
c.3494G>A (p.Trp1165Ter)
n.3807G>A
6g.75914201G>CCA364761981MYO6c.3482G>C (p.Trp1161Ser)
c.3578G>C (p.Trp1193Ser)
c.3509G>C (p.Trp1170Ser)
c.3605G>C (p.Trp1202Ser)
c.*1589G>C (n.*1589G>C)
n.1744G>C
c.3608G>C (p.Trp1203Ser)
c.3566G>C (p.Trp1189Ser)
c.3551G>C (p.Trp1184Ser)
c.3539G>C (p.Trp1180Ser)
c.3512G>C (p.Trp1171Ser)
c.3494G>C (p.Trp1165Ser)
n.3807G>C
 gnomAD v4
6g.75914201G>TCA364761982MYO6c.3482G>T (p.Trp1161Leu)
c.3578G>T (p.Trp1193Leu)
c.3509G>T (p.Trp1170Leu)
c.3605G>T (p.Trp1202Leu)
c.*1589G>T (n.*1589G>T)
n.1744G>T
c.3608G>T (p.Trp1203Leu)
c.3566G>T (p.Trp1189Leu)
c.3551G>T (p.Trp1184Leu)
c.3539G>T (p.Trp1180Leu)
c.3512G>T (p.Trp1171Leu)
c.3494G>T (p.Trp1165Leu)
n.3807G>T
6g.75914202G>ACA364761984MYO6c.3483G>A (p.Trp1161Ter)
c.3579G>A (p.Trp1193Ter)
c.3510G>A (p.Trp1170Ter)
c.3606G>A (p.Trp1202Ter)
c.*1590G>A (n.*1590G>A)
n.1745G>A
c.3609G>A (p.Trp1203Ter)
c.3567G>A (p.Trp1189Ter)
c.3552G>A (p.Trp1184Ter)
c.3540G>A (p.Trp1180Ter)
c.3513G>A (p.Trp1171Ter)
c.3495G>A (p.Trp1165Ter)
n.3808G>A
 gnomAD v4
6g.75914202G>CCA364761986MYO6c.3483G>C (p.Trp1161Cys)
c.3579G>C (p.Trp1193Cys)
c.3510G>C (p.Trp1170Cys)
c.3606G>C (p.Trp1202Cys)
c.*1590G>C (n.*1590G>C)
n.1745G>C
c.3609G>C (p.Trp1203Cys)
c.3567G>C (p.Trp1189Cys)
c.3552G>C (p.Trp1184Cys)
c.3540G>C (p.Trp1180Cys)
c.3513G>C (p.Trp1171Cys)
c.3495G>C (p.Trp1165Cys)
n.3808G>C
6g.75914202G>TCA364761992MYO6c.3483G>T (p.Trp1161Cys)
c.3579G>T (p.Trp1193Cys)
c.3510G>T (p.Trp1170Cys)
c.3606G>T (p.Trp1202Cys)
c.*1590G>T (n.*1590G>T)
n.1745G>T
c.3609G>T (p.Trp1203Cys)
c.3567G>T (p.Trp1189Cys)
c.3552G>T (p.Trp1184Cys)
c.3540G>T (p.Trp1180Cys)
c.3513G>T (p.Trp1171Cys)
c.3495G>T (p.Trp1165Cys)
n.3808G>T
6g.75914203T>ACA364761998MYO6c.3484T>A (p.Tyr1162Asn)
c.3580T>A (p.Tyr1194Asn)
c.3511T>A (p.Tyr1171Asn)
c.3607T>A (p.Tyr1203Asn)
c.*1591T>A (n.*1591T>A)
n.1746T>A
c.3610T>A (p.Tyr1204Asn)
c.3568T>A (p.Tyr1190Asn)
c.3553T>A (p.Tyr1185Asn)
c.3541T>A (p.Tyr1181Asn)
c.3514T>A (p.Tyr1172Asn)
c.3496T>A (p.Tyr1166Asn)
n.3809T>A
6g.75914203T>CCA364762008MYO6c.3484T>C (p.Tyr1162His)
c.3580T>C (p.Tyr1194His)
c.3511T>C (p.Tyr1171His)
c.3607T>C (p.Tyr1203His)
c.*1591T>C (n.*1591T>C)
n.1746T>C
c.3610T>C (p.Tyr1204His)
c.3568T>C (p.Tyr1190His)
c.3553T>C (p.Tyr1185His)
c.3541T>C (p.Tyr1181His)
c.3514T>C (p.Tyr1172His)
c.3496T>C (p.Tyr1166His)
n.3809T>C
 gnomAD v4
6g.75914203T>GCA364762010MYO6c.3484T>G (p.Tyr1162Asp)
c.3580T>G (p.Tyr1194Asp)
c.3511T>G (p.Tyr1171Asp)
c.3607T>G (p.Tyr1203Asp)
c.*1591T>G (n.*1591T>G)
n.1746T>G
c.3610T>G (p.Tyr1204Asp)
c.3568T>G (p.Tyr1190Asp)
c.3553T>G (p.Tyr1185Asp)
c.3541T>G (p.Tyr1181Asp)
c.3514T>G (p.Tyr1172Asp)
c.3496T>G (p.Tyr1166Asp)
n.3809T>G
6g.75914204A>CCA364762012MYO6c.3485A>C (p.Tyr1162Ser)
c.3581A>C (p.Tyr1194Ser)
c.3512A>C (p.Tyr1171Ser)
c.3608A>C (p.Tyr1203Ser)
c.*1592A>C (n.*1592A>C)
n.1747A>C
c.3611A>C (p.Tyr1204Ser)
c.3569A>C (p.Tyr1190Ser)
c.3554A>C (p.Tyr1185Ser)
c.3542A>C (p.Tyr1181Ser)
c.3515A>C (p.Tyr1172Ser)
c.3497A>C (p.Tyr1166Ser)
n.3810A>C
6g.75914204A>GCA364762013MYO6c.3485A>G (p.Tyr1162Cys)
c.3581A>G (p.Tyr1194Cys)
c.3512A>G (p.Tyr1171Cys)
c.3608A>G (p.Tyr1203Cys)
c.*1592A>G (n.*1592A>G)
n.1747A>G
c.3611A>G (p.Tyr1204Cys)
c.3569A>G (p.Tyr1190Cys)
c.3554A>G (p.Tyr1185Cys)
c.3542A>G (p.Tyr1181Cys)
c.3515A>G (p.Tyr1172Cys)
c.3497A>G (p.Tyr1166Cys)
n.3810A>G
 gnomAD v4
6g.75914204A>TCA364762014MYO6c.3485A>T (p.Tyr1162Phe)
c.3581A>T (p.Tyr1194Phe)
c.3512A>T (p.Tyr1171Phe)
c.3608A>T (p.Tyr1203Phe)
c.*1592A>T (n.*1592A>T)
n.1747A>T
c.3611A>T (p.Tyr1204Phe)
c.3569A>T (p.Tyr1190Phe)
c.3554A>T (p.Tyr1185Phe)
c.3542A>T (p.Tyr1181Phe)
c.3515A>T (p.Tyr1172Phe)
c.3497A>T (p.Tyr1166Phe)
n.3810A>T
6g.75914205T>ACA364762023MYO6c.3486T>A (p.Tyr1162Ter)
c.3582T>A (p.Tyr1194Ter)
c.3513T>A (p.Tyr1171Ter)
c.3609T>A (p.Tyr1203Ter)
c.*1593T>A (n.*1593T>A)
n.1748T>A
c.3612T>A (p.Tyr1204Ter)
c.3570T>A (p.Tyr1190Ter)
c.3555T>A (p.Tyr1185Ter)
c.3543T>A (p.Tyr1181Ter)
c.3516T>A (p.Tyr1172Ter)
c.3498T>A (p.Tyr1166Ter)
n.3811T>A
6g.75914205T>CCA450938544MYO6c.3486T>C (p.Tyr1162=)
c.3582T>C (p.Tyr1194=)
c.3513T>C (p.Tyr1171=)
c.3609T>C (p.Tyr1203=)
c.*1593T>C (n.*1593T>C)
n.1748T>C
c.3612T>C (p.Tyr1204=)
c.3570T>C (p.Tyr1190=)
c.3555T>C (p.Tyr1185=)
c.3543T>C (p.Tyr1181=)
c.3516T>C (p.Tyr1172=)
c.3498T>C (p.Tyr1166=)
n.3811T>C
 gnomAD v4
6g.75914205T>GCA364762019MYO6c.3486T>G (p.Tyr1162Ter)
c.3582T>G (p.Tyr1194Ter)
c.3513T>G (p.Tyr1171Ter)
c.3609T>G (p.Tyr1203Ter)
c.*1593T>G (n.*1593T>G)
n.1748T>G
c.3612T>G (p.Tyr1204Ter)
c.3570T>G (p.Tyr1190Ter)
c.3555T>G (p.Tyr1185Ter)
c.3543T>G (p.Tyr1181Ter)
c.3516T>G (p.Tyr1172Ter)
c.3498T>G (p.Tyr1166Ter)
n.3811T>G
6g.75914206G>ACA364762027MYO6c.3487G>A (p.Ala1163Thr)
c.3583G>A (p.Ala1195Thr)
c.3514G>A (p.Ala1172Thr)
c.3610G>A (p.Ala1204Thr)
c.*1594G>A (n.*1594G>A)
n.1749G>A
c.3613G>A (p.Ala1205Thr)
c.3571G>A (p.Ala1191Thr)
c.3556G>A (p.Ala1186Thr)
c.3544G>A (p.Ala1182Thr)
c.3517G>A (p.Ala1173Thr)
c.3499G>A (p.Ala1167Thr)
n.3812G>A
6g.75914206G>CCA364762029MYO6c.3487G>C (p.Ala1163Pro)
c.3583G>C (p.Ala1195Pro)
c.3514G>C (p.Ala1172Pro)
c.3610G>C (p.Ala1204Pro)
c.*1594G>C (n.*1594G>C)
n.1749G>C
c.3613G>C (p.Ala1205Pro)
c.3571G>C (p.Ala1191Pro)
c.3556G>C (p.Ala1186Pro)
c.3544G>C (p.Ala1182Pro)
c.3517G>C (p.Ala1173Pro)
c.3499G>C (p.Ala1167Pro)
n.3812G>C
6g.75914206G>TCA364762028MYO6c.3487G>T (p.Ala1163Ser)
c.3583G>T (p.Ala1195Ser)
c.3514G>T (p.Ala1172Ser)
c.3610G>T (p.Ala1204Ser)
c.*1594G>T (n.*1594G>T)
n.1749G>T
c.3613G>T (p.Ala1205Ser)
c.3571G>T (p.Ala1191Ser)
c.3556G>T (p.Ala1186Ser)
c.3544G>T (p.Ala1182Ser)
c.3517G>T (p.Ala1173Ser)
c.3499G>T (p.Ala1167Ser)
n.3812G>T
6g.75914207C>ACA364762031MYO6c.3488C>A (p.Ala1163Asp)
c.3584C>A (p.Ala1195Asp)
c.3515C>A (p.Ala1172Asp)
c.3611C>A (p.Ala1204Asp)
c.*1595C>A (n.*1595C>A)
n.1750C>A
c.3614C>A (p.Ala1205Asp)
c.3572C>A (p.Ala1191Asp)
c.3557C>A (p.Ala1186Asp)
c.3545C>A (p.Ala1182Asp)
c.3518C>A (p.Ala1173Asp)
c.3500C>A (p.Ala1167Asp)
n.3813C>A
6g.75914207C>GCA364762034MYO6c.3488C>G (p.Ala1163Gly)
c.3584C>G (p.Ala1195Gly)
c.3515C>G (p.Ala1172Gly)
c.3611C>G (p.Ala1204Gly)
c.*1595C>G (n.*1595C>G)
n.1750C>G
c.3614C>G (p.Ala1205Gly)
c.3572C>G (p.Ala1191Gly)
c.3557C>G (p.Ala1186Gly)
c.3545C>G (p.Ala1182Gly)
c.3518C>G (p.Ala1173Gly)
c.3500C>G (p.Ala1167Gly)
n.3813C>G
6g.75914207C>TCA364762037MYO6c.3488C>T (p.Ala1163Val)
c.3584C>T (p.Ala1195Val)
c.3515C>T (p.Ala1172Val)
c.3611C>T (p.Ala1204Val)
c.*1595C>T (n.*1595C>T)
n.1750C>T
c.3614C>T (p.Ala1205Val)
c.3572C>T (p.Ala1191Val)
c.3557C>T (p.Ala1186Val)
c.3545C>T (p.Ala1182Val)
c.3518C>T (p.Ala1173Val)
c.3500C>T (p.Ala1167Val)
n.3813C>T
6g.75914208C>ACA450938545MYO6c.3489C>A (p.Ala1163=)
c.3585C>A (p.Ala1195=)
c.3516C>A (p.Ala1172=)
c.3612C>A (p.Ala1204=)
c.*1596C>A (n.*1596C>A)
n.1751C>A
c.3615C>A (p.Ala1205=)
c.3573C>A (p.Ala1191=)
c.3558C>A (p.Ala1186=)
c.3546C>A (p.Ala1182=)
c.3519C>A (p.Ala1173=)
c.3501C>A (p.Ala1167=)
n.3814C>A
6g.75914208C>GCA450938546MYO6c.3489C>G (p.Ala1163=)
c.3585C>G (p.Ala1195=)
c.3516C>G (p.Ala1172=)
c.3612C>G (p.Ala1204=)
c.*1596C>G (n.*1596C>G)
n.1751C>G
c.3615C>G (p.Ala1205=)
c.3573C>G (p.Ala1191=)
c.3558C>G (p.Ala1186=)
c.3546C>G (p.Ala1182=)
c.3519C>G (p.Ala1173=)
c.3501C>G (p.Ala1167=)
n.3814C>G
6g.75914208C>TCA450938547MYO6c.3489C>T (p.Ala1163=)
c.3585C>T (p.Ala1195=)
c.3516C>T (p.Ala1172=)
c.3612C>T (p.Ala1204=)
c.*1596C>T (n.*1596C>T)
n.1751C>T
c.3615C>T (p.Ala1205=)
c.3573C>T (p.Ala1191=)
c.3558C>T (p.Ala1186=)
c.3546C>T (p.Ala1182=)
c.3519C>T (p.Ala1173=)
c.3501C>T (p.Ala1167=)
n.3814C>T
6g.75914209C>ACA364762039MYO6c.3490C>A (p.His1164Asn)
c.3586C>A (p.His1196Asn)
c.3517C>A (p.His1173Asn)
c.3613C>A (p.His1205Asn)
c.*1597C>A (n.*1597C>A)
n.1752C>A
c.3616C>A (p.His1206Asn)
c.3574C>A (p.His1192Asn)
c.3559C>A (p.His1187Asn)
c.3547C>A (p.His1183Asn)
c.3520C>A (p.His1174Asn)
c.3502C>A (p.His1168Asn)
n.3815C>A
6g.75914209C>GCA364762042MYO6c.3490C>G (p.His1164Asp)
c.3586C>G (p.His1196Asp)
c.3517C>G (p.His1173Asp)
c.3613C>G (p.His1205Asp)
c.*1597C>G (n.*1597C>G)
n.1752C>G
c.3616C>G (p.His1206Asp)
c.3574C>G (p.His1192Asp)
c.3559C>G (p.His1187Asp)
c.3547C>G (p.His1183Asp)
c.3520C>G (p.His1174Asp)
c.3502C>G (p.His1168Asp)
n.3815C>G
 ClinVar dbSNP gnomAD v4
6g.75914209C>TCA364762045MYO6c.3490C>T (p.His1164Tyr)
c.3586C>T (p.His1196Tyr)
c.3517C>T (p.His1173Tyr)
c.3613C>T (p.His1205Tyr)
c.*1597C>T (n.*1597C>T)
n.1752C>T
c.3616C>T (p.His1206Tyr)
c.3574C>T (p.His1192Tyr)
c.3559C>T (p.His1187Tyr)
c.3547C>T (p.His1183Tyr)
c.3520C>T (p.His1174Tyr)
c.3502C>T (p.His1168Tyr)
n.3815C>T
6g.75914210A>CCA364762048MYO6c.3491A>C (p.His1164Pro)
c.3587A>C (p.His1196Pro)
c.3518A>C (p.His1173Pro)
c.3614A>C (p.His1205Pro)
c.*1598A>C (n.*1598A>C)
n.1753A>C
c.3617A>C (p.His1206Pro)
c.3575A>C (p.His1192Pro)
c.3560A>C (p.His1187Pro)
c.3548A>C (p.His1183Pro)
c.3521A>C (p.His1174Pro)
c.3503A>C (p.His1168Pro)
n.3816A>C
6g.75914210A>GCA364762052MYO6c.3491A>G (p.His1164Arg)
c.3587A>G (p.His1196Arg)
c.3518A>G (p.His1173Arg)
c.3614A>G (p.His1205Arg)
c.*1598A>G (n.*1598A>G)
n.1753A>G
c.3617A>G (p.His1206Arg)
c.3575A>G (p.His1192Arg)
c.3560A>G (p.His1187Arg)
c.3548A>G (p.His1183Arg)
c.3521A>G (p.His1174Arg)
c.3503A>G (p.His1168Arg)
n.3816A>G
6g.75914210A>TCA364762064MYO6c.3491A>T (p.His1164Leu)
c.3587A>T (p.His1196Leu)
c.3518A>T (p.His1173Leu)
c.3614A>T (p.His1205Leu)
c.*1598A>T (n.*1598A>T)
n.1753A>T
c.3617A>T (p.His1206Leu)
c.3575A>T (p.His1192Leu)
c.3560A>T (p.His1187Leu)
c.3548A>T (p.His1183Leu)
c.3521A>T (p.His1174Leu)
c.3503A>T (p.His1168Leu)
n.3816A>T
6g.75914211T>ACA364762067MYO6c.3492T>A (p.His1164Gln)
c.3588T>A (p.His1196Gln)
c.3519T>A (p.His1173Gln)
c.3615T>A (p.His1205Gln)
c.*1599T>A (n.*1599T>A)
n.1754T>A
c.3618T>A (p.His1206Gln)
c.3576T>A (p.His1192Gln)
c.3561T>A (p.His1187Gln)
c.3549T>A (p.His1183Gln)
c.3522T>A (p.His1174Gln)
c.3504T>A (p.His1168Gln)
n.3817T>A
6g.75914211T>CCA141060277MYO6c.3492T>C (p.His1164=)
c.3588T>C (p.His1196=)
c.3519T>C (p.His1173=)
c.3615T>C (p.His1205=)
c.*1599T>C (n.*1599T>C)
n.1754T>C
c.3618T>C (p.His1206=)
c.3576T>C (p.His1192=)
c.3561T>C (p.His1187=)
c.3549T>C (p.His1183=)
c.3522T>C (p.His1174=)
c.3504T>C (p.His1168=)
n.3817T>C
 dbSNP gnomAD v3 gnomAD v4
6g.75914211T>GCA364762070MYO6c.3492T>G (p.His1164Gln)
c.3588T>G (p.His1196Gln)
c.3519T>G (p.His1173Gln)
c.3615T>G (p.His1205Gln)
c.*1599T>G (n.*1599T>G)
n.1754T>G
c.3618T>G (p.His1206Gln)
c.3576T>G (p.His1192Gln)
c.3561T>G (p.His1187Gln)
c.3549T>G (p.His1183Gln)
c.3522T>G (p.His1174Gln)
c.3504T>G (p.His1168Gln)
n.3817T>G
6g.75914212T>ACA364762081MYO6c.3493T>A (p.Phe1165Ile)
c.3589T>A (p.Phe1197Ile)
c.3520T>A (p.Phe1174Ile)
c.3616T>A (p.Phe1206Ile)
c.*1600T>A (n.*1600T>A)
n.1755T>A
c.3619T>A (p.Phe1207Ile)
c.3577T>A (p.Phe1193Ile)
c.3562T>A (p.Phe1188Ile)
c.3550T>A (p.Phe1184Ile)
c.3523T>A (p.Phe1175Ile)
c.3505T>A (p.Phe1169Ile)
n.3818T>A
6g.75914212T>CCA364762074MYO6c.3493T>C (p.Phe1165Leu)
c.3589T>C (p.Phe1197Leu)
c.3520T>C (p.Phe1174Leu)
c.3616T>C (p.Phe1206Leu)
c.*1600T>C (n.*1600T>C)
n.1755T>C
c.3619T>C (p.Phe1207Leu)
c.3577T>C (p.Phe1193Leu)
c.3562T>C (p.Phe1188Leu)
c.3550T>C (p.Phe1184Leu)
c.3523T>C (p.Phe1175Leu)
c.3505T>C (p.Phe1169Leu)
n.3818T>C
6g.75914212T>GCA364762077MYO6c.3493T>G (p.Phe1165Val)
c.3589T>G (p.Phe1197Val)
c.3520T>G (p.Phe1174Val)
c.3616T>G (p.Phe1206Val)
c.*1600T>G (n.*1600T>G)
n.1755T>G
c.3619T>G (p.Phe1207Val)
c.3577T>G (p.Phe1193Val)
c.3562T>G (p.Phe1188Val)
c.3550T>G (p.Phe1184Val)
c.3523T>G (p.Phe1175Val)
c.3505T>G (p.Phe1169Val)
n.3818T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.75914213T>ACA364762083MYO6c.3494T>A (p.Phe1165Tyr)
c.3590T>A (p.Phe1197Tyr)
c.3521T>A (p.Phe1174Tyr)
c.3617T>A (p.Phe1206Tyr)
c.*1601T>A (n.*1601T>A)
n.1756T>A
c.3620T>A (p.Phe1207Tyr)
c.3578T>A (p.Phe1193Tyr)
c.3563T>A (p.Phe1188Tyr)
c.3551T>A (p.Phe1184Tyr)
c.3524T>A (p.Phe1175Tyr)
c.3506T>A (p.Phe1169Tyr)
n.3819T>A
6g.75914213T>CCA364762087MYO6c.3494T>C (p.Phe1165Ser)
c.3590T>C (p.Phe1197Ser)
c.3521T>C (p.Phe1174Ser)
c.3617T>C (p.Phe1206Ser)
c.*1601T>C (n.*1601T>C)
n.1756T>C
c.3620T>C (p.Phe1207Ser)
c.3578T>C (p.Phe1193Ser)
c.3563T>C (p.Phe1188Ser)
c.3551T>C (p.Phe1184Ser)
c.3524T>C (p.Phe1175Ser)
c.3506T>C (p.Phe1169Ser)
n.3819T>C
6g.75914213T>GCA364762092MYO6c.3494T>G (p.Phe1165Cys)
c.3590T>G (p.Phe1197Cys)
c.3521T>G (p.Phe1174Cys)
c.3617T>G (p.Phe1206Cys)
c.*1601T>G (n.*1601T>G)
n.1756T>G
c.3620T>G (p.Phe1207Cys)
c.3578T>G (p.Phe1193Cys)
c.3563T>G (p.Phe1188Cys)
c.3551T>G (p.Phe1184Cys)
c.3524T>G (p.Phe1175Cys)
c.3506T>G (p.Phe1169Cys)
n.3819T>G
6g.75914214T>ACA364762098MYO6c.3495T>A (p.Phe1165Leu)
c.3591T>A (p.Phe1197Leu)
c.3522T>A (p.Phe1174Leu)
c.3618T>A (p.Phe1206Leu)
c.*1602T>A (n.*1602T>A)
n.1757T>A
c.3621T>A (p.Phe1207Leu)
c.3579T>A (p.Phe1193Leu)
c.3564T>A (p.Phe1188Leu)
c.3552T>A (p.Phe1184Leu)
c.3525T>A (p.Phe1175Leu)
c.3507T>A (p.Phe1169Leu)
n.3820T>A
6g.75914214T>CCA450938548MYO6c.3495T>C (p.Phe1165=)
c.3591T>C (p.Phe1197=)
c.3522T>C (p.Phe1174=)
c.3618T>C (p.Phe1206=)
c.*1602T>C (n.*1602T>C)
n.1757T>C
c.3621T>C (p.Phe1207=)
c.3579T>C (p.Phe1193=)
c.3564T>C (p.Phe1188=)
c.3552T>C (p.Phe1184=)
c.3525T>C (p.Phe1175=)
c.3507T>C (p.Phe1169=)
n.3820T>C
 dbSNP gnomAD v2 gnomAD v4
6g.75914214T>GCA364762100MYO6c.3495T>G (p.Phe1165Leu)
c.3591T>G (p.Phe1197Leu)
c.3522T>G (p.Phe1174Leu)
c.3618T>G (p.Phe1206Leu)
c.*1602T>G (n.*1602T>G)
n.1757T>G
c.3621T>G (p.Phe1207Leu)
c.3579T>G (p.Phe1193Leu)
c.3564T>G (p.Phe1188Leu)
c.3552T>G (p.Phe1184Leu)
c.3525T>G (p.Phe1175Leu)
c.3507T>G (p.Phe1169Leu)
n.3820T>G
6g.75914215G>ACA364762101MYO6c.3496G>A (p.Asp1166Asn)
c.3592G>A (p.Asp1198Asn)
c.3523G>A (p.Asp1175Asn)
c.3619G>A (p.Asp1207Asn)
c.*1603G>A (n.*1603G>A)
n.1758G>A
c.3622G>A (p.Asp1208Asn)
c.3580G>A (p.Asp1194Asn)
c.3565G>A (p.Asp1189Asn)
c.3553G>A (p.Asp1185Asn)
c.3526G>A (p.Asp1176Asn)
c.3508G>A (p.Asp1170Asn)
n.3821G>A
6g.75914215G>CCA364762104MYO6c.3496G>C (p.Asp1166His)
c.3592G>C (p.Asp1198His)
c.3523G>C (p.Asp1175His)
c.3619G>C (p.Asp1207His)
c.*1603G>C (n.*1603G>C)
n.1758G>C
c.3622G>C (p.Asp1208His)
c.3580G>C (p.Asp1194His)
c.3565G>C (p.Asp1189His)
c.3553G>C (p.Asp1185His)
c.3526G>C (p.Asp1176His)
c.3508G>C (p.Asp1170His)
n.3821G>C
6g.75914215G>TCA364762108MYO6c.3496G>T (p.Asp1166Tyr)
c.3592G>T (p.Asp1198Tyr)
c.3523G>T (p.Asp1175Tyr)
c.3619G>T (p.Asp1207Tyr)
c.*1603G>T (n.*1603G>T)
n.1758G>T
c.3622G>T (p.Asp1208Tyr)
c.3580G>T (p.Asp1194Tyr)
c.3565G>T (p.Asp1189Tyr)
c.3553G>T (p.Asp1185Tyr)
c.3526G>T (p.Asp1176Tyr)
c.3508G>T (p.Asp1170Tyr)
n.3821G>T
6g.75914216A>CCA364762115MYO6c.3497A>C (p.Asp1166Ala)
c.3593A>C (p.Asp1198Ala)
c.3524A>C (p.Asp1175Ala)
c.3620A>C (p.Asp1207Ala)
c.*1604A>C (n.*1604A>C)
n.1759A>C
c.3623A>C (p.Asp1208Ala)
c.3581A>C (p.Asp1194Ala)
c.3566A>C (p.Asp1189Ala)
c.3554A>C (p.Asp1185Ala)
c.3527A>C (p.Asp1176Ala)
c.3509A>C (p.Asp1170Ala)
n.3822A>C
6g.75914216A>GCA364762119MYO6c.3497A>G (p.Asp1166Gly)
c.3593A>G (p.Asp1198Gly)
c.3524A>G (p.Asp1175Gly)
c.3620A>G (p.Asp1207Gly)
c.*1604A>G (n.*1604A>G)
n.1759A>G
c.3623A>G (p.Asp1208Gly)
c.3581A>G (p.Asp1194Gly)
c.3566A>G (p.Asp1189Gly)
c.3554A>G (p.Asp1185Gly)
c.3527A>G (p.Asp1176Gly)
c.3509A>G (p.Asp1170Gly)
n.3822A>G
6g.75914216A>TCA364762123MYO6c.3497A>T (p.Asp1166Val)
c.3593A>T (p.Asp1198Val)
c.3524A>T (p.Asp1175Val)
c.3620A>T (p.Asp1207Val)
c.*1604A>T (n.*1604A>T)
n.1759A>T
c.3623A>T (p.Asp1208Val)
c.3581A>T (p.Asp1194Val)
c.3566A>T (p.Asp1189Val)
c.3554A>T (p.Asp1185Val)
c.3527A>T (p.Asp1176Val)
c.3509A>T (p.Asp1170Val)
n.3822A>T
6g.75914217T>ACA364762130MYO6c.3498T>A (p.Asp1166Glu)
c.3594T>A (p.Asp1198Glu)
c.3525T>A (p.Asp1175Glu)
c.3621T>A (p.Asp1207Glu)
c.*1605T>A (n.*1605T>A)
n.1760T>A
c.3624T>A (p.Asp1208Glu)
c.3582T>A (p.Asp1194Glu)
c.3567T>A (p.Asp1189Glu)
c.3555T>A (p.Asp1185Glu)
c.3528T>A (p.Asp1176Glu)
c.3510T>A (p.Asp1170Glu)
n.3823T>A
6g.75914217T>CCA450938549MYO6c.3498T>C (p.Asp1166=)
c.3594T>C (p.Asp1198=)
c.3525T>C (p.Asp1175=)
c.3621T>C (p.Asp1207=)
c.*1605T>C (n.*1605T>C)
n.1760T>C
c.3624T>C (p.Asp1208=)
c.3582T>C (p.Asp1194=)
c.3567T>C (p.Asp1189=)
c.3555T>C (p.Asp1185=)
c.3528T>C (p.Asp1176=)
c.3510T>C (p.Asp1170=)
n.3823T>C
 gnomAD v4
6g.75914217T>GCA364762127MYO6c.3498T>G (p.Asp1166Glu)
c.3594T>G (p.Asp1198Glu)
c.3525T>G (p.Asp1175Glu)
c.3621T>G (p.Asp1207Glu)
c.*1605T>G (n.*1605T>G)
n.1760T>G
c.3624T>G (p.Asp1208Glu)
c.3582T>G (p.Asp1194Glu)
c.3567T>G (p.Asp1189Glu)
c.3555T>G (p.Asp1185Glu)
c.3528T>G (p.Asp1176Glu)
c.3510T>G (p.Asp1170Glu)
n.3823T>G
6g.75914218G>ACA364762133MYO6c.3499G>A (p.Gly1167Arg)
c.3595G>A (p.Gly1199Arg)
c.3526G>A (p.Gly1176Arg)
c.3622G>A (p.Gly1208Arg)
c.*1606G>A (n.*1606G>A)
n.1761G>A
c.3625G>A (p.Gly1209Arg)
c.3583G>A (p.Gly1195Arg)
c.3568G>A (p.Gly1190Arg)
c.3556G>A (p.Gly1186Arg)
c.3529G>A (p.Gly1177Arg)
c.3511G>A (p.Gly1171Arg)
n.3824G>A
6g.75914218G>CCA364762136MYO6c.3499G>C (p.Gly1167Arg)
c.3595G>C (p.Gly1199Arg)
c.3526G>C (p.Gly1176Arg)
c.3622G>C (p.Gly1208Arg)
c.*1606G>C (n.*1606G>C)
n.1761G>C
c.3625G>C (p.Gly1209Arg)
c.3583G>C (p.Gly1195Arg)
c.3568G>C (p.Gly1190Arg)
c.3556G>C (p.Gly1186Arg)
c.3529G>C (p.Gly1177Arg)
c.3511G>C (p.Gly1171Arg)
n.3824G>C
6g.75914218G>TCA364762139MYO6c.3499G>T (p.Gly1167Ter)
c.3595G>T (p.Gly1199Ter)
c.3526G>T (p.Gly1176Ter)
c.3622G>T (p.Gly1208Ter)
c.*1606G>T (n.*1606G>T)
n.1761G>T
c.3625G>T (p.Gly1209Ter)
c.3583G>T (p.Gly1195Ter)
c.3568G>T (p.Gly1190Ter)
c.3556G>T (p.Gly1186Ter)
c.3529G>T (p.Gly1177Ter)
c.3511G>T (p.Gly1171Ter)
n.3824G>T
6g.75914219G>ACA364762142MYO6c.3500G>A (p.Gly1167Glu)
c.3596G>A (p.Gly1199Glu)
c.3527G>A (p.Gly1176Glu)
c.3623G>A (p.Gly1208Glu)
c.*1607G>A (n.*1607G>A)
n.1762G>A
c.3626G>A (p.Gly1209Glu)
c.3584G>A (p.Gly1195Glu)
c.3569G>A (p.Gly1190Glu)
c.3557G>A (p.Gly1186Glu)
c.3530G>A (p.Gly1177Glu)
c.3512G>A (p.Gly1171Glu)
n.3825G>A
6g.75914219G>CCA364762144MYO6c.3500G>C (p.Gly1167Ala)
c.3596G>C (p.Gly1199Ala)
c.3527G>C (p.Gly1176Ala)
c.3623G>C (p.Gly1208Ala)
c.*1607G>C (n.*1607G>C)
n.1762G>C
c.3626G>C (p.Gly1209Ala)
c.3584G>C (p.Gly1195Ala)
c.3569G>C (p.Gly1190Ala)
c.3557G>C (p.Gly1186Ala)
c.3530G>C (p.Gly1177Ala)
c.3512G>C (p.Gly1171Ala)
n.3825G>C
6g.75914219G>TCA364762146MYO6c.3500G>T (p.Gly1167Val)
c.3596G>T (p.Gly1199Val)
c.3527G>T (p.Gly1176Val)
c.3623G>T (p.Gly1208Val)
c.*1607G>T (n.*1607G>T)
n.1762G>T
c.3626G>T (p.Gly1209Val)
c.3584G>T (p.Gly1195Val)
c.3569G>T (p.Gly1190Val)
c.3557G>T (p.Gly1186Val)
c.3530G>T (p.Gly1177Val)
c.3512G>T (p.Gly1171Val)
n.3825G>T
6g.75914220A>CCA450938551MYO6c.3501A>C (p.Gly1167=)
c.3597A>C (p.Gly1199=)
c.3528A>C (p.Gly1176=)
c.3624A>C (p.Gly1208=)
c.*1608A>C (n.*1608A>C)
n.1763A>C
c.3627A>C (p.Gly1209=)
c.3585A>C (p.Gly1195=)
c.3570A>C (p.Gly1190=)
c.3558A>C (p.Gly1186=)
c.3531A>C (p.Gly1177=)
c.3513A>C (p.Gly1171=)
n.3826A>C
6g.75914220A>GCA141060285MYO6c.3501A>G (p.Gly1167=)
c.3597A>G (p.Gly1199=)
c.3528A>G (p.Gly1176=)
c.3624A>G (p.Gly1208=)
c.*1608A>G (n.*1608A>G)
n.1763A>G
c.3627A>G (p.Gly1209=)
c.3585A>G (p.Gly1195=)
c.3570A>G (p.Gly1190=)
c.3558A>G (p.Gly1186=)
c.3531A>G (p.Gly1177=)
c.3513A>G (p.Gly1171=)
n.3826A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.75914220A>TCA3897766MYO6c.3501A>T (p.Gly1167=)
c.3597A>T (p.Gly1199=)
c.3528A>T (p.Gly1176=)
c.3624A>T (p.Gly1208=)
c.*1608A>T (n.*1608A>T)
n.1763A>T
c.3627A>T (p.Gly1209=)
c.3585A>T (p.Gly1195=)
c.3570A>T (p.Gly1190=)
c.3558A>T (p.Gly1186=)
c.3531A>T (p.Gly1177=)
c.3513A>T (p.Gly1171=)
n.3826A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914221C>ACA364762152MYO6c.3502C>A (p.Pro1168Thr)
c.3598C>A (p.Pro1200Thr)
c.3529C>A (p.Pro1177Thr)
c.3625C>A (p.Pro1209Thr)
c.*1609C>A (n.*1609C>A)
n.1764C>A
c.3628C>A (p.Pro1210Thr)
c.3586C>A (p.Pro1196Thr)
c.3571C>A (p.Pro1191Thr)
c.3559C>A (p.Pro1187Thr)
c.3532C>A (p.Pro1178Thr)
c.3514C>A (p.Pro1172Thr)
n.3827C>A
6g.75914221C>GCA364762159MYO6c.3502C>G (p.Pro1168Ala)
c.3598C>G (p.Pro1200Ala)
c.3529C>G (p.Pro1177Ala)
c.3625C>G (p.Pro1209Ala)
c.*1609C>G (n.*1609C>G)
n.1764C>G
c.3628C>G (p.Pro1210Ala)
c.3586C>G (p.Pro1196Ala)
c.3571C>G (p.Pro1191Ala)
c.3559C>G (p.Pro1187Ala)
c.3532C>G (p.Pro1178Ala)
c.3514C>G (p.Pro1172Ala)
n.3827C>G
 gnomAD v4
6g.75914221C>TCA364762162MYO6c.3502C>T (p.Pro1168Ser)
c.3598C>T (p.Pro1200Ser)
c.3529C>T (p.Pro1177Ser)
c.3625C>T (p.Pro1209Ser)
c.*1609C>T (n.*1609C>T)
n.1764C>T
c.3628C>T (p.Pro1210Ser)
c.3586C>T (p.Pro1196Ser)
c.3571C>T (p.Pro1191Ser)
c.3559C>T (p.Pro1187Ser)
c.3532C>T (p.Pro1178Ser)
c.3514C>T (p.Pro1172Ser)
n.3827C>T
 dbSNP
6g.75914222C>ACA364762165MYO6c.3503C>A (p.Pro1168Gln)
c.3599C>A (p.Pro1200Gln)
c.3530C>A (p.Pro1177Gln)
c.3626C>A (p.Pro1209Gln)
c.*1610C>A (n.*1610C>A)
n.1765C>A
c.3629C>A (p.Pro1210Gln)
c.3587C>A (p.Pro1196Gln)
c.3572C>A (p.Pro1191Gln)
c.3560C>A (p.Pro1187Gln)
c.3533C>A (p.Pro1178Gln)
c.3515C>A (p.Pro1172Gln)
n.3828C>A
6g.75914222C>GCA364762169MYO6c.3503C>G (p.Pro1168Arg)
c.3599C>G (p.Pro1200Arg)
c.3530C>G (p.Pro1177Arg)
c.3626C>G (p.Pro1209Arg)
c.*1610C>G (n.*1610C>G)
n.1765C>G
c.3629C>G (p.Pro1210Arg)
c.3587C>G (p.Pro1196Arg)
c.3572C>G (p.Pro1191Arg)
c.3560C>G (p.Pro1187Arg)
c.3533C>G (p.Pro1178Arg)
c.3515C>G (p.Pro1172Arg)
n.3828C>G
6g.75914222C>TCA364762174MYO6c.3503C>T (p.Pro1168Leu)
c.3599C>T (p.Pro1200Leu)
c.3530C>T (p.Pro1177Leu)
c.3626C>T (p.Pro1209Leu)
c.*1610C>T (n.*1610C>T)
n.1765C>T
c.3629C>T (p.Pro1210Leu)
c.3587C>T (p.Pro1196Leu)
c.3572C>T (p.Pro1191Leu)
c.3560C>T (p.Pro1187Leu)
c.3533C>T (p.Pro1178Leu)
c.3515C>T (p.Pro1172Leu)
n.3828C>T
 dbSNP gnomAD v3 gnomAD v4
6g.75914223A>CCA450938552MYO6c.3504A>C (p.Pro1168=)
c.3600A>C (p.Pro1200=)
c.3531A>C (p.Pro1177=)
c.3627A>C (p.Pro1209=)
c.*1611A>C (n.*1611A>C)
n.1766A>C
c.3630A>C (p.Pro1210=)
c.3588A>C (p.Pro1196=)
c.3573A>C (p.Pro1191=)
c.3561A>C (p.Pro1187=)
c.3534A>C (p.Pro1178=)
c.3516A>C (p.Pro1172=)
n.3829A>C
6g.75914223A>GCA450938553MYO6c.3504A>G (p.Pro1168=)
c.3600A>G (p.Pro1200=)
c.3531A>G (p.Pro1177=)
c.3627A>G (p.Pro1209=)
c.*1611A>G (n.*1611A>G)
n.1766A>G
c.3630A>G (p.Pro1210=)
c.3588A>G (p.Pro1196=)
c.3573A>G (p.Pro1191=)
c.3561A>G (p.Pro1187=)
c.3534A>G (p.Pro1178=)
c.3516A>G (p.Pro1172=)
n.3829A>G
 dbSNP gnomAD v4
6g.75914223A>TCA450938554MYO6c.3504A>T (p.Pro1168=)
c.3600A>T (p.Pro1200=)
c.3531A>T (p.Pro1177=)
c.3627A>T (p.Pro1209=)
c.*1611A>T (n.*1611A>T)
n.1766A>T
c.3630A>T (p.Pro1210=)
c.3588A>T (p.Pro1196=)
c.3573A>T (p.Pro1191=)
c.3561A>T (p.Pro1187=)
c.3534A>T (p.Pro1178=)
c.3516A>T (p.Pro1172=)
n.3829A>T
6g.75914224T>ACA364762178MYO6c.3505T>A (p.Trp1169Arg)
c.3601T>A (p.Trp1201Arg)
c.3532T>A (p.Trp1178Arg)
c.3628T>A (p.Trp1210Arg)
c.*1612T>A (n.*1612T>A)
n.1767T>A
c.3631T>A (p.Trp1211Arg)
c.3589T>A (p.Trp1197Arg)
c.3574T>A (p.Trp1192Arg)
c.3562T>A (p.Trp1188Arg)
c.3535T>A (p.Trp1179Arg)
c.3517T>A (p.Trp1173Arg)
n.3830T>A
6g.75914224T>CCA3897767MYO6c.3505T>C (p.Trp1169Arg)
c.3601T>C (p.Trp1201Arg)
c.3532T>C (p.Trp1178Arg)
c.3628T>C (p.Trp1210Arg)
c.*1612T>C (n.*1612T>C)
n.1767T>C
c.3631T>C (p.Trp1211Arg)
c.3589T>C (p.Trp1197Arg)
c.3574T>C (p.Trp1192Arg)
c.3562T>C (p.Trp1188Arg)
c.3535T>C (p.Trp1179Arg)
c.3517T>C (p.Trp1173Arg)
n.3830T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914224T>GCA364762177MYO6c.3505T>G (p.Trp1169Gly)
c.3601T>G (p.Trp1201Gly)
c.3532T>G (p.Trp1178Gly)
c.3628T>G (p.Trp1210Gly)
c.*1612T>G (n.*1612T>G)
n.1767T>G
c.3631T>G (p.Trp1211Gly)
c.3589T>G (p.Trp1197Gly)
c.3574T>G (p.Trp1192Gly)
c.3562T>G (p.Trp1188Gly)
c.3535T>G (p.Trp1179Gly)
c.3517T>G (p.Trp1173Gly)
n.3830T>G
6g.75914225G>ACA364762180MYO6c.3506G>A (p.Trp1169Ter)
c.3602G>A (p.Trp1201Ter)
c.3533G>A (p.Trp1178Ter)
c.3629G>A (p.Trp1210Ter)
c.*1613G>A (n.*1613G>A)
n.1768G>A
c.3632G>A (p.Trp1211Ter)
c.3590G>A (p.Trp1197Ter)
c.3575G>A (p.Trp1192Ter)
c.3563G>A (p.Trp1188Ter)
c.3536G>A (p.Trp1179Ter)
c.3518G>A (p.Trp1173Ter)
n.3831G>A
6g.75914225G>CCA364762184MYO6c.3506G>C (p.Trp1169Ser)
c.3602G>C (p.Trp1201Ser)
c.3533G>C (p.Trp1178Ser)
c.3629G>C (p.Trp1210Ser)
c.*1613G>C (n.*1613G>C)
n.1768G>C
c.3632G>C (p.Trp1211Ser)
c.3590G>C (p.Trp1197Ser)
c.3575G>C (p.Trp1192Ser)
c.3563G>C (p.Trp1188Ser)
c.3536G>C (p.Trp1179Ser)
c.3518G>C (p.Trp1173Ser)
n.3831G>C
6g.75914225G>TCA364762188MYO6c.3506G>T (p.Trp1169Leu)
c.3602G>T (p.Trp1201Leu)
c.3533G>T (p.Trp1178Leu)
c.3629G>T (p.Trp1210Leu)
c.*1613G>T (n.*1613G>T)
n.1768G>T
c.3632G>T (p.Trp1211Leu)
c.3590G>T (p.Trp1197Leu)
c.3575G>T (p.Trp1192Leu)
c.3563G>T (p.Trp1188Leu)
c.3536G>T (p.Trp1179Leu)
c.3518G>T (p.Trp1173Leu)
n.3831G>T
6g.75914226G>ACA364762192MYO6c.3507G>A (p.Trp1169Ter)
c.3603G>A (p.Trp1201Ter)
c.3534G>A (p.Trp1178Ter)
c.3630G>A (p.Trp1210Ter)
c.*1614G>A (n.*1614G>A)
n.1769G>A
c.3633G>A (p.Trp1211Ter)
c.3591G>A (p.Trp1197Ter)
c.3576G>A (p.Trp1192Ter)
c.3564G>A (p.Trp1188Ter)
c.3537G>A (p.Trp1179Ter)
c.3519G>A (p.Trp1173Ter)
n.3832G>A
 COSMIC COSMIC
6g.75914226G>CCA364762196MYO6c.3507G>C (p.Trp1169Cys)
c.3603G>C (p.Trp1201Cys)
c.3534G>C (p.Trp1178Cys)
c.3630G>C (p.Trp1210Cys)
c.*1614G>C (n.*1614G>C)
n.1769G>C
c.3633G>C (p.Trp1211Cys)
c.3591G>C (p.Trp1197Cys)
c.3576G>C (p.Trp1192Cys)
c.3564G>C (p.Trp1188Cys)
c.3537G>C (p.Trp1179Cys)
c.3519G>C (p.Trp1173Cys)
n.3832G>C
6g.75914226G>TCA364762200MYO6c.3507G>T (p.Trp1169Cys)
c.3603G>T (p.Trp1201Cys)
c.3534G>T (p.Trp1178Cys)
c.3630G>T (p.Trp1210Cys)
c.*1614G>T (n.*1614G>T)
n.1769G>T
c.3633G>T (p.Trp1211Cys)
c.3591G>T (p.Trp1197Cys)
c.3576G>T (p.Trp1192Cys)
c.3564G>T (p.Trp1188Cys)
c.3537G>T (p.Trp1179Cys)
c.3519G>T (p.Trp1173Cys)
n.3832G>T
 gnomAD v4
6g.75914227A>CCA364762202MYO6c.3508A>C (p.Ile1170Leu)
c.3604A>C (p.Ile1202Leu)
c.3535A>C (p.Ile1179Leu)
c.3631A>C (p.Ile1211Leu)
c.*1615A>C (n.*1615A>C)
n.1770A>C
c.3634A>C (p.Ile1212Leu)
c.3592A>C (p.Ile1198Leu)
c.3577A>C (p.Ile1193Leu)
c.3565A>C (p.Ile1189Leu)
c.3538A>C (p.Ile1180Leu)
c.3520A>C (p.Ile1174Leu)
n.3833A>C
6g.75914227A>GCA364762205MYO6c.3508A>G (p.Ile1170Val)
c.3604A>G (p.Ile1202Val)
c.3535A>G (p.Ile1179Val)
c.3631A>G (p.Ile1211Val)
c.*1615A>G (n.*1615A>G)
n.1770A>G
c.3634A>G (p.Ile1212Val)
c.3592A>G (p.Ile1198Val)
c.3577A>G (p.Ile1193Val)
c.3565A>G (p.Ile1189Val)
c.3538A>G (p.Ile1180Val)
c.3520A>G (p.Ile1174Val)
n.3833A>G
6g.75914227A>TCA364762209MYO6c.3508A>T (p.Ile1170Phe)
c.3604A>T (p.Ile1202Phe)
c.3535A>T (p.Ile1179Phe)
c.3631A>T (p.Ile1211Phe)
c.*1615A>T (n.*1615A>T)
n.1770A>T
c.3634A>T (p.Ile1212Phe)
c.3592A>T (p.Ile1198Phe)
c.3577A>T (p.Ile1193Phe)
c.3565A>T (p.Ile1189Phe)
c.3538A>T (p.Ile1180Phe)
c.3520A>T (p.Ile1174Phe)
n.3833A>T

Number of alleles fetched