Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
6g.75914228T>ACA364762211MYO6c.3509T>A (p.Ile1170Asn)
c.3605T>A (p.Ile1202Asn)
c.3536T>A (p.Ile1179Asn)
c.3632T>A (p.Ile1211Asn)
c.*1616T>A (n.*1616T>A)
n.1771T>A
c.3635T>A (p.Ile1212Asn)
c.3593T>A (p.Ile1198Asn)
c.3578T>A (p.Ile1193Asn)
c.3566T>A (p.Ile1189Asn)
c.3539T>A (p.Ile1180Asn)
c.3521T>A (p.Ile1174Asn)
n.3834T>A
6g.75914228T>CCA364762212MYO6c.3509T>C (p.Ile1170Thr)
c.3605T>C (p.Ile1202Thr)
c.3536T>C (p.Ile1179Thr)
c.3632T>C (p.Ile1211Thr)
c.*1616T>C (n.*1616T>C)
n.1771T>C
c.3635T>C (p.Ile1212Thr)
c.3593T>C (p.Ile1198Thr)
c.3578T>C (p.Ile1193Thr)
c.3566T>C (p.Ile1189Thr)
c.3539T>C (p.Ile1180Thr)
c.3521T>C (p.Ile1174Thr)
n.3834T>C
6g.75914228T>GCA364762217MYO6c.3509T>G (p.Ile1170Ser)
c.3605T>G (p.Ile1202Ser)
c.3536T>G (p.Ile1179Ser)
c.3632T>G (p.Ile1211Ser)
c.*1616T>G (n.*1616T>G)
n.1771T>G
c.3635T>G (p.Ile1212Ser)
c.3593T>G (p.Ile1198Ser)
c.3578T>G (p.Ile1193Ser)
c.3566T>G (p.Ile1189Ser)
c.3539T>G (p.Ile1180Ser)
c.3521T>G (p.Ile1174Ser)
n.3834T>G
6g.75914229T>ACA450938555MYO6c.3510T>A (p.Ile1170=)
c.3606T>A (p.Ile1202=)
c.3537T>A (p.Ile1179=)
c.3633T>A (p.Ile1211=)
c.*1617T>A (n.*1617T>A)
n.1772T>A
c.3636T>A (p.Ile1212=)
c.3594T>A (p.Ile1198=)
c.3579T>A (p.Ile1193=)
c.3567T>A (p.Ile1189=)
c.3540T>A (p.Ile1180=)
c.3522T>A (p.Ile1174=)
n.3835T>A
6g.75914229T>CCA450938556MYO6c.3510T>C (p.Ile1170=)
c.3606T>C (p.Ile1202=)
c.3537T>C (p.Ile1179=)
c.3633T>C (p.Ile1211=)
c.*1617T>C (n.*1617T>C)
n.1772T>C
c.3636T>C (p.Ile1212=)
c.3594T>C (p.Ile1198=)
c.3579T>C (p.Ile1193=)
c.3567T>C (p.Ile1189=)
c.3540T>C (p.Ile1180=)
c.3522T>C (p.Ile1174=)
n.3835T>C
6g.75914229T>GCA364762220MYO6c.3510T>G (p.Ile1170Met)
c.3606T>G (p.Ile1202Met)
c.3537T>G (p.Ile1179Met)
c.3633T>G (p.Ile1211Met)
c.*1617T>G (n.*1617T>G)
n.1772T>G
c.3636T>G (p.Ile1212Met)
c.3594T>G (p.Ile1198Met)
c.3579T>G (p.Ile1193Met)
c.3567T>G (p.Ile1189Met)
c.3540T>G (p.Ile1180Met)
c.3522T>G (p.Ile1174Met)
n.3835T>G
6g.75914230G>ACA364762224MYO6c.3511G>A (p.Ala1171Thr)
c.3607G>A (p.Ala1203Thr)
c.3538G>A (p.Ala1180Thr)
c.3634G>A (p.Ala1212Thr)
c.*1618G>A (n.*1618G>A)
n.1773G>A
c.3637G>A (p.Ala1213Thr)
c.3595G>A (p.Ala1199Thr)
c.3580G>A (p.Ala1194Thr)
c.3568G>A (p.Ala1190Thr)
c.3541G>A (p.Ala1181Thr)
c.3523G>A (p.Ala1175Thr)
n.3836G>A
6g.75914230G>CCA364762226MYO6c.3511G>C (p.Ala1171Pro)
c.3607G>C (p.Ala1203Pro)
c.3538G>C (p.Ala1180Pro)
c.3634G>C (p.Ala1212Pro)
c.*1618G>C (n.*1618G>C)
n.1773G>C
c.3637G>C (p.Ala1213Pro)
c.3595G>C (p.Ala1199Pro)
c.3580G>C (p.Ala1194Pro)
c.3568G>C (p.Ala1190Pro)
c.3541G>C (p.Ala1181Pro)
c.3523G>C (p.Ala1175Pro)
n.3836G>C
6g.75914230G>TCA3897768MYO6c.3511G>T (p.Ala1171Ser)
c.3607G>T (p.Ala1203Ser)
c.3538G>T (p.Ala1180Ser)
c.3634G>T (p.Ala1212Ser)
c.*1618G>T (n.*1618G>T)
n.1773G>T
c.3637G>T (p.Ala1213Ser)
c.3595G>T (p.Ala1199Ser)
c.3580G>T (p.Ala1194Ser)
c.3568G>T (p.Ala1190Ser)
c.3541G>T (p.Ala1181Ser)
c.3523G>T (p.Ala1175Ser)
n.3836G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914231C>ACA364762234MYO6c.3512C>A (p.Ala1171Asp)
c.3608C>A (p.Ala1203Asp)
c.3539C>A (p.Ala1180Asp)
c.3635C>A (p.Ala1212Asp)
c.*1619C>A (n.*1619C>A)
n.1774C>A
c.3638C>A (p.Ala1213Asp)
c.3596C>A (p.Ala1199Asp)
c.3581C>A (p.Ala1194Asp)
c.3569C>A (p.Ala1190Asp)
c.3542C>A (p.Ala1181Asp)
c.3524C>A (p.Ala1175Asp)
n.3837C>A
6g.75914231C>GCA364762231MYO6c.3512C>G (p.Ala1171Gly)
c.3608C>G (p.Ala1203Gly)
c.3539C>G (p.Ala1180Gly)
c.3635C>G (p.Ala1212Gly)
c.*1619C>G (n.*1619C>G)
n.1774C>G
c.3638C>G (p.Ala1213Gly)
c.3596C>G (p.Ala1199Gly)
c.3581C>G (p.Ala1194Gly)
c.3569C>G (p.Ala1190Gly)
c.3542C>G (p.Ala1181Gly)
c.3524C>G (p.Ala1175Gly)
n.3837C>G
6g.75914231C>TCA3897769MYO6c.3512C>T (p.Ala1171Val)
c.3608C>T (p.Ala1203Val)
c.3539C>T (p.Ala1180Val)
c.3635C>T (p.Ala1212Val)
c.*1619C>T (n.*1619C>T)
n.1774C>T
c.3638C>T (p.Ala1213Val)
c.3596C>T (p.Ala1199Val)
c.3581C>T (p.Ala1194Val)
c.3569C>T (p.Ala1190Val)
c.3542C>T (p.Ala1181Val)
c.3524C>T (p.Ala1175Val)
n.3837C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914233_75914252delCA2679456097MYO6c.3514_3533del (p.Arg1172Ter)
c.3610_3629del (p.Arg1204Ter)
c.3541_3560del (p.Arg1181Ter)
c.3637_3656del (p.Arg1213Ter)
c.*1621_*1640del (n.*1621_*1640del)
n.1776_1795del
c.3640_3659del (p.Arg1214Ter)
c.3598_3617del (p.Arg1200Ter)
c.3583_3602del (p.Arg1195Ter)
c.3571_3590del (p.Arg1191Ter)
c.3544_3563del (p.Arg1182Ter)
c.3526_3545del (p.Arg1176Ter)
n.3839_3858del
 gnomAD v4
6g.75914232C>ACA450938557MYO6c.3513C>A (p.Ala1171=)
c.3609C>A (p.Ala1203=)
c.3540C>A (p.Ala1180=)
c.3636C>A (p.Ala1212=)
c.*1620C>A (n.*1620C>A)
n.1775C>A
c.3639C>A (p.Ala1213=)
c.3597C>A (p.Ala1199=)
c.3582C>A (p.Ala1194=)
c.3570C>A (p.Ala1190=)
c.3543C>A (p.Ala1181=)
c.3525C>A (p.Ala1175=)
n.3838C>A
6g.75914232C>GCA450938558MYO6c.3513C>G (p.Ala1171=)
c.3609C>G (p.Ala1203=)
c.3540C>G (p.Ala1180=)
c.3636C>G (p.Ala1212=)
c.*1620C>G (n.*1620C>G)
n.1775C>G
c.3639C>G (p.Ala1213=)
c.3597C>G (p.Ala1199=)
c.3582C>G (p.Ala1194=)
c.3570C>G (p.Ala1190=)
c.3543C>G (p.Ala1181=)
c.3525C>G (p.Ala1175=)
n.3838C>G
6g.75914232C>TCA450938559MYO6c.3513C>T (p.Ala1171=)
c.3609C>T (p.Ala1203=)
c.3540C>T (p.Ala1180=)
c.3636C>T (p.Ala1212=)
c.*1620C>T (n.*1620C>T)
n.1775C>T
c.3639C>T (p.Ala1213=)
c.3597C>T (p.Ala1199=)
c.3582C>T (p.Ala1194=)
c.3570C>T (p.Ala1190=)
c.3543C>T (p.Ala1181=)
c.3525C>T (p.Ala1175=)
n.3838C>T
6g.75914233C>ACA450938560MYO6c.3514C>A (p.Arg1172=)
c.3610C>A (p.Arg1204=)
c.3541C>A (p.Arg1181=)
c.3637C>A (p.Arg1213=)
c.*1621C>A (n.*1621C>A)
n.1776C>A
c.3640C>A (p.Arg1214=)
c.3598C>A (p.Arg1200=)
c.3583C>A (p.Arg1195=)
c.3571C>A (p.Arg1191=)
c.3544C>A (p.Arg1182=)
c.3526C>A (p.Arg1176=)
n.3839C>A
6g.75914233C>GCA364762237MYO6c.3514C>G (p.Arg1172Gly)
c.3610C>G (p.Arg1204Gly)
c.3541C>G (p.Arg1181Gly)
c.3637C>G (p.Arg1213Gly)
c.*1621C>G (n.*1621C>G)
n.1776C>G
c.3640C>G (p.Arg1214Gly)
c.3598C>G (p.Arg1200Gly)
c.3583C>G (p.Arg1195Gly)
c.3571C>G (p.Arg1191Gly)
c.3544C>G (p.Arg1182Gly)
c.3526C>G (p.Arg1176Gly)
n.3839C>G
6g.75914233C>TCA10576709MYO6c.3514C>T (p.Arg1172Trp)
c.3610C>T (p.Arg1204Trp)
c.3541C>T (p.Arg1181Trp)
c.3637C>T (p.Arg1213Trp)
c.*1621C>T (n.*1621C>T)
n.1776C>T
c.3640C>T (p.Arg1214Trp)
c.3598C>T (p.Arg1200Trp)
c.3583C>T (p.Arg1195Trp)
c.3571C>T (p.Arg1191Trp)
c.3544C>T (p.Arg1182Trp)
c.3526C>T (p.Arg1176Trp)
n.3839C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.75914234G>ACA3897770MYO6c.3515G>A (p.Arg1172Gln)
c.3611G>A (p.Arg1204Gln)
c.3542G>A (p.Arg1181Gln)
c.3638G>A (p.Arg1213Gln)
c.*1622G>A (n.*1622G>A)
n.1777G>A
c.3641G>A (p.Arg1214Gln)
c.3599G>A (p.Arg1200Gln)
c.3584G>A (p.Arg1195Gln)
c.3572G>A (p.Arg1191Gln)
c.3545G>A (p.Arg1182Gln)
c.3527G>A (p.Arg1176Gln)
n.3840G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914234G>CCA364762238MYO6c.3515G>C (p.Arg1172Pro)
c.3611G>C (p.Arg1204Pro)
c.3542G>C (p.Arg1181Pro)
c.3638G>C (p.Arg1213Pro)
c.*1622G>C (n.*1622G>C)
n.1777G>C
c.3641G>C (p.Arg1214Pro)
c.3599G>C (p.Arg1200Pro)
c.3584G>C (p.Arg1195Pro)
c.3572G>C (p.Arg1191Pro)
c.3545G>C (p.Arg1182Pro)
c.3527G>C (p.Arg1176Pro)
n.3840G>C
6g.75914234G>TCA364762239MYO6c.3515G>T (p.Arg1172Leu)
c.3611G>T (p.Arg1204Leu)
c.3542G>T (p.Arg1181Leu)
c.3638G>T (p.Arg1213Leu)
c.*1622G>T (n.*1622G>T)
n.1777G>T
c.3641G>T (p.Arg1214Leu)
c.3599G>T (p.Arg1200Leu)
c.3584G>T (p.Arg1195Leu)
c.3572G>T (p.Arg1191Leu)
c.3545G>T (p.Arg1182Leu)
c.3527G>T (p.Arg1176Leu)
n.3840G>T
6g.75914235G>ACA450938563MYO6c.3516G>A (p.Arg1172=)
c.3612G>A (p.Arg1204=)
c.3543G>A (p.Arg1181=)
c.3639G>A (p.Arg1213=)
c.*1623G>A (n.*1623G>A)
n.1778G>A
c.3642G>A (p.Arg1214=)
c.3600G>A (p.Arg1200=)
c.3585G>A (p.Arg1195=)
c.3573G>A (p.Arg1191=)
c.3546G>A (p.Arg1182=)
c.3528G>A (p.Arg1176=)
n.3841G>A
6g.75914235G>CCA450938562MYO6c.3516G>C (p.Arg1172=)
c.3612G>C (p.Arg1204=)
c.3543G>C (p.Arg1181=)
c.3639G>C (p.Arg1213=)
c.*1623G>C (n.*1623G>C)
n.1778G>C
c.3642G>C (p.Arg1214=)
c.3600G>C (p.Arg1200=)
c.3585G>C (p.Arg1195=)
c.3573G>C (p.Arg1191=)
c.3546G>C (p.Arg1182=)
c.3528G>C (p.Arg1176=)
n.3841G>C
6g.75914235G>TCA450938561MYO6c.3516G>T (p.Arg1172=)
c.3612G>T (p.Arg1204=)
c.3543G>T (p.Arg1181=)
c.3639G>T (p.Arg1213=)
c.*1623G>T (n.*1623G>T)
n.1778G>T
c.3642G>T (p.Arg1214=)
c.3600G>T (p.Arg1200=)
c.3585G>T (p.Arg1195=)
c.3573G>T (p.Arg1191=)
c.3546G>T (p.Arg1182=)
c.3528G>T (p.Arg1176=)
n.3841G>T
6g.75914236C>ACA364762242MYO6c.3517C>A (p.Gln1173Lys)
c.3613C>A (p.Gln1205Lys)
c.3544C>A (p.Gln1182Lys)
c.3640C>A (p.Gln1214Lys)
c.*1624C>A (n.*1624C>A)
n.1779C>A
c.3643C>A (p.Gln1215Lys)
c.3601C>A (p.Gln1201Lys)
c.3586C>A (p.Gln1196Lys)
c.3574C>A (p.Gln1192Lys)
c.3547C>A (p.Gln1183Lys)
c.3529C>A (p.Gln1177Lys)
n.3842C>A
6g.75914236C>GCA364762244MYO6c.3517C>G (p.Gln1173Glu)
c.3613C>G (p.Gln1205Glu)
c.3544C>G (p.Gln1182Glu)
c.3640C>G (p.Gln1214Glu)
c.*1624C>G (n.*1624C>G)
n.1779C>G
c.3643C>G (p.Gln1215Glu)
c.3601C>G (p.Gln1201Glu)
c.3586C>G (p.Gln1196Glu)
c.3574C>G (p.Gln1192Glu)
c.3547C>G (p.Gln1183Glu)
c.3529C>G (p.Gln1177Glu)
n.3842C>G
6g.75914236C>TCA364762246MYO6c.3517C>T (p.Gln1173Ter)
c.3613C>T (p.Gln1205Ter)
c.3544C>T (p.Gln1182Ter)
c.3640C>T (p.Gln1214Ter)
c.*1624C>T (n.*1624C>T)
n.1779C>T
c.3643C>T (p.Gln1215Ter)
c.3601C>T (p.Gln1201Ter)
c.3586C>T (p.Gln1196Ter)
c.3574C>T (p.Gln1192Ter)
c.3547C>T (p.Gln1183Ter)
c.3529C>T (p.Gln1177Ter)
n.3842C>T
6g.75914237A>CCA364762262MYO6c.3518A>C (p.Gln1173Pro)
c.3614A>C (p.Gln1205Pro)
c.3545A>C (p.Gln1182Pro)
c.3641A>C (p.Gln1214Pro)
c.*1625A>C (n.*1625A>C)
n.1780A>C
c.3644A>C (p.Gln1215Pro)
c.3602A>C (p.Gln1201Pro)
c.3587A>C (p.Gln1196Pro)
c.3575A>C (p.Gln1192Pro)
c.3548A>C (p.Gln1183Pro)
c.3530A>C (p.Gln1177Pro)
n.3843A>C
6g.75914237A>GCA364762270MYO6c.3518A>G (p.Gln1173Arg)
c.3614A>G (p.Gln1205Arg)
c.3545A>G (p.Gln1182Arg)
c.3641A>G (p.Gln1214Arg)
c.*1625A>G (n.*1625A>G)
n.1780A>G
c.3644A>G (p.Gln1215Arg)
c.3602A>G (p.Gln1201Arg)
c.3587A>G (p.Gln1196Arg)
c.3575A>G (p.Gln1192Arg)
c.3548A>G (p.Gln1183Arg)
c.3530A>G (p.Gln1177Arg)
n.3843A>G
6g.75914237A>TCA364762272MYO6c.3518A>T (p.Gln1173Leu)
c.3614A>T (p.Gln1205Leu)
c.3545A>T (p.Gln1182Leu)
c.3641A>T (p.Gln1214Leu)
c.*1625A>T (n.*1625A>T)
n.1780A>T
c.3644A>T (p.Gln1215Leu)
c.3602A>T (p.Gln1201Leu)
c.3587A>T (p.Gln1196Leu)
c.3575A>T (p.Gln1192Leu)
c.3548A>T (p.Gln1183Leu)
c.3530A>T (p.Gln1177Leu)
n.3843A>T
6g.75914238A>CCA364762274MYO6c.3519A>C (p.Gln1173His)
c.3615A>C (p.Gln1205His)
c.3546A>C (p.Gln1182His)
c.3642A>C (p.Gln1214His)
c.*1626A>C (n.*1626A>C)
n.1781A>C
c.3645A>C (p.Gln1215His)
c.3603A>C (p.Gln1201His)
c.3588A>C (p.Gln1196His)
c.3576A>C (p.Gln1192His)
c.3549A>C (p.Gln1183His)
c.3531A>C (p.Gln1177His)
n.3844A>C
6g.75914238A>GCA3897771MYO6c.3519A>G (p.Gln1173=)
c.3615A>G (p.Gln1205=)
c.3546A>G (p.Gln1182=)
c.3642A>G (p.Gln1214=)
c.*1626A>G (n.*1626A>G)
n.1781A>G
c.3645A>G (p.Gln1215=)
c.3603A>G (p.Gln1201=)
c.3588A>G (p.Gln1196=)
c.3576A>G (p.Gln1192=)
c.3549A>G (p.Gln1183=)
c.3531A>G (p.Gln1177=)
n.3844A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914238A>TCA364762278MYO6c.3519A>T (p.Gln1173His)
c.3615A>T (p.Gln1205His)
c.3546A>T (p.Gln1182His)
c.3642A>T (p.Gln1214His)
c.*1626A>T (n.*1626A>T)
n.1781A>T
c.3645A>T (p.Gln1215His)
c.3603A>T (p.Gln1201His)
c.3588A>T (p.Gln1196His)
c.3576A>T (p.Gln1192His)
c.3549A>T (p.Gln1183His)
c.3531A>T (p.Gln1177His)
n.3844A>T
6g.75914239A>CCA364762285MYO6c.3520A>C (p.Met1174Leu)
c.3616A>C (p.Met1206Leu)
c.3547A>C (p.Met1183Leu)
c.3643A>C (p.Met1215Leu)
c.*1627A>C (n.*1627A>C)
n.1782A>C
c.3646A>C (p.Met1216Leu)
c.3604A>C (p.Met1202Leu)
c.3589A>C (p.Met1197Leu)
c.3577A>C (p.Met1193Leu)
c.3550A>C (p.Met1184Leu)
c.3532A>C (p.Met1178Leu)
n.3845A>C
6g.75914239A>GCA364762279MYO6c.3520A>G (p.Met1174Val)
c.3616A>G (p.Met1206Val)
c.3547A>G (p.Met1183Val)
c.3643A>G (p.Met1215Val)
c.*1627A>G (n.*1627A>G)
n.1782A>G
c.3646A>G (p.Met1216Val)
c.3604A>G (p.Met1202Val)
c.3589A>G (p.Met1197Val)
c.3577A>G (p.Met1193Val)
c.3550A>G (p.Met1184Val)
c.3532A>G (p.Met1178Val)
n.3845A>G
 dbSNP
6g.75914239A>TCA364762282MYO6c.3520A>T (p.Met1174Leu)
c.3616A>T (p.Met1206Leu)
c.3547A>T (p.Met1183Leu)
c.3643A>T (p.Met1215Leu)
c.*1627A>T (n.*1627A>T)
n.1782A>T
c.3646A>T (p.Met1216Leu)
c.3604A>T (p.Met1202Leu)
c.3589A>T (p.Met1197Leu)
c.3577A>T (p.Met1193Leu)
c.3550A>T (p.Met1184Leu)
c.3532A>T (p.Met1178Leu)
n.3845A>T
6g.75914240T>ACA364762288MYO6c.3521T>A (p.Met1174Lys)
c.3617T>A (p.Met1206Lys)
c.3548T>A (p.Met1183Lys)
c.3644T>A (p.Met1215Lys)
c.*1628T>A (n.*1628T>A)
n.1783T>A
c.3647T>A (p.Met1216Lys)
c.3605T>A (p.Met1202Lys)
c.3590T>A (p.Met1197Lys)
c.3578T>A (p.Met1193Lys)
c.3551T>A (p.Met1184Lys)
c.3533T>A (p.Met1178Lys)
n.3846T>A
6g.75914240T>CCA364762292MYO6c.3521T>C (p.Met1174Thr)
c.3617T>C (p.Met1206Thr)
c.3548T>C (p.Met1183Thr)
c.3644T>C (p.Met1215Thr)
c.*1628T>C (n.*1628T>C)
n.1783T>C
c.3647T>C (p.Met1216Thr)
c.3605T>C (p.Met1202Thr)
c.3590T>C (p.Met1197Thr)
c.3578T>C (p.Met1193Thr)
c.3551T>C (p.Met1184Thr)
c.3533T>C (p.Met1178Thr)
n.3846T>C
6g.75914240T>GCA364762299MYO6c.3521T>G (p.Met1174Arg)
c.3617T>G (p.Met1206Arg)
c.3548T>G (p.Met1183Arg)
c.3644T>G (p.Met1215Arg)
c.*1628T>G (n.*1628T>G)
n.1783T>G
c.3647T>G (p.Met1216Arg)
c.3605T>G (p.Met1202Arg)
c.3590T>G (p.Met1197Arg)
c.3578T>G (p.Met1193Arg)
c.3551T>G (p.Met1184Arg)
c.3533T>G (p.Met1178Arg)
n.3846T>G
6g.75914241G>ACA364762300MYO6c.3522G>A (p.Met1174Ile)
c.3618G>A (p.Met1206Ile)
c.3549G>A (p.Met1183Ile)
c.3645G>A (p.Met1215Ile)
c.*1629G>A (n.*1629G>A)
n.1784G>A
c.3648G>A (p.Met1216Ile)
c.3606G>A (p.Met1202Ile)
c.3591G>A (p.Met1197Ile)
c.3579G>A (p.Met1193Ile)
c.3552G>A (p.Met1184Ile)
c.3534G>A (p.Met1178Ile)
n.3847G>A
6g.75914241G>CCA364762301MYO6c.3522G>C (p.Met1174Ile)
c.3618G>C (p.Met1206Ile)
c.3549G>C (p.Met1183Ile)
c.3645G>C (p.Met1215Ile)
c.*1629G>C (n.*1629G>C)
n.1784G>C
c.3648G>C (p.Met1216Ile)
c.3606G>C (p.Met1202Ile)
c.3591G>C (p.Met1197Ile)
c.3579G>C (p.Met1193Ile)
c.3552G>C (p.Met1184Ile)
c.3534G>C (p.Met1178Ile)
n.3847G>C
6g.75914241G>TCA364762302MYO6c.3522G>T (p.Met1174Ile)
c.3618G>T (p.Met1206Ile)
c.3549G>T (p.Met1183Ile)
c.3645G>T (p.Met1215Ile)
c.*1629G>T (n.*1629G>T)
n.1784G>T
c.3648G>T (p.Met1216Ile)
c.3606G>T (p.Met1202Ile)
c.3591G>T (p.Met1197Ile)
c.3579G>T (p.Met1193Ile)
c.3552G>T (p.Met1184Ile)
c.3534G>T (p.Met1178Ile)
n.3847G>T
6g.75914242G>ACA364762304MYO6c.3523G>A (p.Glu1175Lys)
c.3619G>A (p.Glu1207Lys)
c.3550G>A (p.Glu1184Lys)
c.3646G>A (p.Glu1216Lys)
c.*1630G>A (n.*1630G>A)
n.1785G>A
c.3649G>A (p.Glu1217Lys)
c.3607G>A (p.Glu1203Lys)
c.3592G>A (p.Glu1198Lys)
c.3580G>A (p.Glu1194Lys)
c.3553G>A (p.Glu1185Lys)
c.3535G>A (p.Glu1179Lys)
n.3848G>A
6g.75914242G>CCA364762306MYO6c.3523G>C (p.Glu1175Gln)
c.3619G>C (p.Glu1207Gln)
c.3550G>C (p.Glu1184Gln)
c.3646G>C (p.Glu1216Gln)
c.*1630G>C (n.*1630G>C)
n.1785G>C
c.3649G>C (p.Glu1217Gln)
c.3607G>C (p.Glu1203Gln)
c.3592G>C (p.Glu1198Gln)
c.3580G>C (p.Glu1194Gln)
c.3553G>C (p.Glu1185Gln)
c.3535G>C (p.Glu1179Gln)
n.3848G>C
6g.75914242G>TCA364762307MYO6c.3523G>T (p.Glu1175Ter)
c.3619G>T (p.Glu1207Ter)
c.3550G>T (p.Glu1184Ter)
c.3646G>T (p.Glu1216Ter)
c.*1630G>T (n.*1630G>T)
n.1785G>T
c.3649G>T (p.Glu1217Ter)
c.3607G>T (p.Glu1203Ter)
c.3592G>T (p.Glu1198Ter)
c.3580G>T (p.Glu1194Ter)
c.3553G>T (p.Glu1185Ter)
c.3535G>T (p.Glu1179Ter)
n.3848G>T
6g.75914243A>CCA364762308MYO6c.3524A>C (p.Glu1175Ala)
c.3620A>C (p.Glu1207Ala)
c.3551A>C (p.Glu1184Ala)
c.3647A>C (p.Glu1216Ala)
c.*1631A>C (n.*1631A>C)
n.1786A>C
c.3650A>C (p.Glu1217Ala)
c.3608A>C (p.Glu1203Ala)
c.3593A>C (p.Glu1198Ala)
c.3581A>C (p.Glu1194Ala)
c.3554A>C (p.Glu1185Ala)
c.3536A>C (p.Glu1179Ala)
n.3849A>C
6g.75914243A>GCA364762309MYO6c.3524A>G (p.Glu1175Gly)
c.3620A>G (p.Glu1207Gly)
c.3551A>G (p.Glu1184Gly)
c.3647A>G (p.Glu1216Gly)
c.*1631A>G (n.*1631A>G)
n.1786A>G
c.3650A>G (p.Glu1217Gly)
c.3608A>G (p.Glu1203Gly)
c.3593A>G (p.Glu1198Gly)
c.3581A>G (p.Glu1194Gly)
c.3554A>G (p.Glu1185Gly)
c.3536A>G (p.Glu1179Gly)
n.3849A>G
6g.75914243A>TCA364762310MYO6c.3524A>T (p.Glu1175Val)
c.3620A>T (p.Glu1207Val)
c.3551A>T (p.Glu1184Val)
c.3647A>T (p.Glu1216Val)
c.*1631A>T (n.*1631A>T)
n.1786A>T
c.3650A>T (p.Glu1217Val)
c.3608A>T (p.Glu1203Val)
c.3593A>T (p.Glu1198Val)
c.3581A>T (p.Glu1194Val)
c.3554A>T (p.Glu1185Val)
c.3536A>T (p.Glu1179Val)
n.3849A>T
6g.75914244A>CCA364762313MYO6c.3525A>C (p.Glu1175Asp)
c.3621A>C (p.Glu1207Asp)
c.3552A>C (p.Glu1184Asp)
c.3648A>C (p.Glu1216Asp)
c.*1632A>C (n.*1632A>C)
n.1787A>C
c.3651A>C (p.Glu1217Asp)
c.3609A>C (p.Glu1203Asp)
c.3594A>C (p.Glu1198Asp)
c.3582A>C (p.Glu1194Asp)
c.3555A>C (p.Glu1185Asp)
c.3537A>C (p.Glu1179Asp)
n.3850A>C
6g.75914244A>GCA450938564MYO6c.3525A>G (p.Glu1175=)
c.3621A>G (p.Glu1207=)
c.3552A>G (p.Glu1184=)
c.3648A>G (p.Glu1216=)
c.*1632A>G (n.*1632A>G)
n.1787A>G
c.3651A>G (p.Glu1217=)
c.3609A>G (p.Glu1203=)
c.3594A>G (p.Glu1198=)
c.3582A>G (p.Glu1194=)
c.3555A>G (p.Glu1185=)
c.3537A>G (p.Glu1179=)
n.3850A>G
 dbSNP
6g.75914244A>TCA364762312MYO6c.3525A>T (p.Glu1175Asp)
c.3621A>T (p.Glu1207Asp)
c.3552A>T (p.Glu1184Asp)
c.3648A>T (p.Glu1216Asp)
c.*1632A>T (n.*1632A>T)
n.1787A>T
c.3651A>T (p.Glu1217Asp)
c.3609A>T (p.Glu1203Asp)
c.3594A>T (p.Glu1198Asp)
c.3582A>T (p.Glu1194Asp)
c.3555A>T (p.Glu1185Asp)
c.3537A>T (p.Glu1179Asp)
n.3850A>T
6g.75914246_75914263delCA2573052743MYO6c.3527_3544del (p.Leu1176_Pro1181del)
c.3623_3640del (p.Leu1208_Pro1213del)
c.3554_3571del (p.Leu1185_Pro1190del)
c.3650_3667del (p.Leu1217_Pro1222del)
c.*1634_*1651del (n.*1634_*1651del)
n.1789_1806del
c.3653_3670del (p.Leu1218_Pro1223del)
c.3611_3628del (p.Leu1204_Pro1209del)
c.3596_3613del (p.Leu1199_Pro1204del)
c.3584_3601del (p.Leu1195_Pro1200del)
c.3557_3574del (p.Leu1186_Pro1191del)
c.3539_3556del (p.Leu1180_Pro1185del)
n.3852_3869del
 ClinVar dbSNP
6g.75914245C>ACA364762316MYO6c.3526C>A (p.Leu1176Ile)
c.3622C>A (p.Leu1208Ile)
c.3553C>A (p.Leu1185Ile)
c.3649C>A (p.Leu1217Ile)
c.*1633C>A (n.*1633C>A)
n.1788C>A
c.3652C>A (p.Leu1218Ile)
c.3610C>A (p.Leu1204Ile)
c.3595C>A (p.Leu1199Ile)
c.3583C>A (p.Leu1195Ile)
c.3556C>A (p.Leu1186Ile)
c.3538C>A (p.Leu1180Ile)
n.3851C>A
6g.75914245C>GCA364762318MYO6c.3526C>G (p.Leu1176Val)
c.3622C>G (p.Leu1208Val)
c.3553C>G (p.Leu1185Val)
c.3649C>G (p.Leu1217Val)
c.*1633C>G (n.*1633C>G)
n.1788C>G
c.3652C>G (p.Leu1218Val)
c.3610C>G (p.Leu1204Val)
c.3595C>G (p.Leu1199Val)
c.3583C>G (p.Leu1195Val)
c.3556C>G (p.Leu1186Val)
c.3538C>G (p.Leu1180Val)
n.3851C>G
 dbSNP gnomAD v3 gnomAD v4
6g.75914245C>TCA364762320MYO6c.3526C>T (p.Leu1176Phe)
c.3622C>T (p.Leu1208Phe)
c.3553C>T (p.Leu1185Phe)
c.3649C>T (p.Leu1217Phe)
c.*1633C>T (n.*1633C>T)
n.1788C>T
c.3652C>T (p.Leu1218Phe)
c.3610C>T (p.Leu1204Phe)
c.3595C>T (p.Leu1199Phe)
c.3583C>T (p.Leu1195Phe)
c.3556C>T (p.Leu1186Phe)
c.3538C>T (p.Leu1180Phe)
n.3851C>T
6g.75914246T>ACA364762324MYO6c.3527T>A (p.Leu1176His)
c.3623T>A (p.Leu1208His)
c.3554T>A (p.Leu1185His)
c.3650T>A (p.Leu1217His)
c.*1634T>A (n.*1634T>A)
n.1789T>A
c.3653T>A (p.Leu1218His)
c.3611T>A (p.Leu1204His)
c.3596T>A (p.Leu1199His)
c.3584T>A (p.Leu1195His)
c.3557T>A (p.Leu1186His)
c.3539T>A (p.Leu1180His)
n.3852T>A
6g.75914246T>CCA364762329MYO6c.3527T>C (p.Leu1176Pro)
c.3623T>C (p.Leu1208Pro)
c.3554T>C (p.Leu1185Pro)
c.3650T>C (p.Leu1217Pro)
c.*1634T>C (n.*1634T>C)
n.1789T>C
c.3653T>C (p.Leu1218Pro)
c.3611T>C (p.Leu1204Pro)
c.3596T>C (p.Leu1199Pro)
c.3584T>C (p.Leu1195Pro)
c.3557T>C (p.Leu1186Pro)
c.3539T>C (p.Leu1180Pro)
n.3852T>C
6g.75914246T>GCA364762331MYO6c.3527T>G (p.Leu1176Arg)
c.3623T>G (p.Leu1208Arg)
c.3554T>G (p.Leu1185Arg)
c.3650T>G (p.Leu1217Arg)
c.*1634T>G (n.*1634T>G)
n.1789T>G
c.3653T>G (p.Leu1218Arg)
c.3611T>G (p.Leu1204Arg)
c.3596T>G (p.Leu1199Arg)
c.3584T>G (p.Leu1195Arg)
c.3557T>G (p.Leu1186Arg)
c.3539T>G (p.Leu1180Arg)
n.3852T>G
6g.75914247C>ACA450938565MYO6c.3528C>A (p.Leu1176=)
c.3624C>A (p.Leu1208=)
c.3555C>A (p.Leu1185=)
c.3651C>A (p.Leu1217=)
c.*1635C>A (n.*1635C>A)
n.1790C>A
c.3654C>A (p.Leu1218=)
c.3612C>A (p.Leu1204=)
c.3597C>A (p.Leu1199=)
c.3585C>A (p.Leu1195=)
c.3558C>A (p.Leu1186=)
c.3540C>A (p.Leu1180=)
n.3853C>A
6g.75914247C>GCA450938566MYO6c.3528C>G (p.Leu1176=)
c.3624C>G (p.Leu1208=)
c.3555C>G (p.Leu1185=)
c.3651C>G (p.Leu1217=)
c.*1635C>G (n.*1635C>G)
n.1790C>G
c.3654C>G (p.Leu1218=)
c.3612C>G (p.Leu1204=)
c.3597C>G (p.Leu1199=)
c.3585C>G (p.Leu1195=)
c.3558C>G (p.Leu1186=)
c.3540C>G (p.Leu1180=)
n.3853C>G
 gnomAD v4
6g.75914247C>TCA450938567MYO6c.3528C>T (p.Leu1176=)
c.3624C>T (p.Leu1208=)
c.3555C>T (p.Leu1185=)
c.3651C>T (p.Leu1217=)
c.*1635C>T (n.*1635C>T)
n.1790C>T
c.3654C>T (p.Leu1218=)
c.3612C>T (p.Leu1204=)
c.3597C>T (p.Leu1199=)
c.3585C>T (p.Leu1195=)
c.3558C>T (p.Leu1186=)
c.3540C>T (p.Leu1180=)
n.3853C>T
6g.75914248C>ACA364762338MYO6c.3529C>A (p.His1177Asn)
c.3625C>A (p.His1209Asn)
c.3556C>A (p.His1186Asn)
c.3652C>A (p.His1218Asn)
c.*1636C>A (n.*1636C>A)
n.1791C>A
c.3655C>A (p.His1219Asn)
c.3613C>A (p.His1205Asn)
c.3598C>A (p.His1200Asn)
c.3586C>A (p.His1196Asn)
c.3559C>A (p.His1187Asn)
c.3541C>A (p.His1181Asn)
n.3854C>A
6g.75914248C>GCA364762334MYO6c.3529C>G (p.His1177Asp)
c.3625C>G (p.His1209Asp)
c.3556C>G (p.His1186Asp)
c.3652C>G (p.His1218Asp)
c.*1636C>G (n.*1636C>G)
n.1791C>G
c.3655C>G (p.His1219Asp)
c.3613C>G (p.His1205Asp)
c.3598C>G (p.His1200Asp)
c.3586C>G (p.His1196Asp)
c.3559C>G (p.His1187Asp)
c.3541C>G (p.His1181Asp)
n.3854C>G
6g.75914248C>TCA364762336MYO6c.3529C>T (p.His1177Tyr)
c.3625C>T (p.His1209Tyr)
c.3556C>T (p.His1186Tyr)
c.3652C>T (p.His1218Tyr)
c.*1636C>T (n.*1636C>T)
n.1791C>T
c.3655C>T (p.His1219Tyr)
c.3613C>T (p.His1205Tyr)
c.3598C>T (p.His1200Tyr)
c.3586C>T (p.His1196Tyr)
c.3559C>T (p.His1187Tyr)
c.3541C>T (p.His1181Tyr)
n.3854C>T
6g.75914249A>CCA364762340MYO6c.3530A>C (p.His1177Pro)
c.3626A>C (p.His1209Pro)
c.3557A>C (p.His1186Pro)
c.3653A>C (p.His1218Pro)
c.*1637A>C (n.*1637A>C)
n.1792A>C
c.3656A>C (p.His1219Pro)
c.3614A>C (p.His1205Pro)
c.3599A>C (p.His1200Pro)
c.3587A>C (p.His1196Pro)
c.3560A>C (p.His1187Pro)
c.3542A>C (p.His1181Pro)
n.3855A>C
6g.75914249A>GCA364762342MYO6c.3530A>G (p.His1177Arg)
c.3626A>G (p.His1209Arg)
c.3557A>G (p.His1186Arg)
c.3653A>G (p.His1218Arg)
c.*1637A>G (n.*1637A>G)
n.1792A>G
c.3656A>G (p.His1219Arg)
c.3614A>G (p.His1205Arg)
c.3599A>G (p.His1200Arg)
c.3587A>G (p.His1196Arg)
c.3560A>G (p.His1187Arg)
c.3542A>G (p.His1181Arg)
n.3855A>G
 gnomAD v4
6g.75914249A>TCA364762345MYO6c.3530A>T (p.His1177Leu)
c.3626A>T (p.His1209Leu)
c.3557A>T (p.His1186Leu)
c.3653A>T (p.His1218Leu)
c.*1637A>T (n.*1637A>T)
n.1792A>T
c.3656A>T (p.His1219Leu)
c.3614A>T (p.His1205Leu)
c.3599A>T (p.His1200Leu)
c.3587A>T (p.His1196Leu)
c.3560A>T (p.His1187Leu)
c.3542A>T (p.His1181Leu)
n.3855A>T
 gnomAD v4
6g.75914250T>ACA364762349MYO6c.3531T>A (p.His1177Gln)
c.3627T>A (p.His1209Gln)
c.3558T>A (p.His1186Gln)
c.3654T>A (p.His1218Gln)
c.*1638T>A (n.*1638T>A)
n.1793T>A
c.3657T>A (p.His1219Gln)
c.3615T>A (p.His1205Gln)
c.3600T>A (p.His1200Gln)
c.3588T>A (p.His1196Gln)
c.3561T>A (p.His1187Gln)
c.3543T>A (p.His1181Gln)
n.3856T>A
6g.75914250T>CCA450938568MYO6c.3531T>C (p.His1177=)
c.3627T>C (p.His1209=)
c.3558T>C (p.His1186=)
c.3654T>C (p.His1218=)
c.*1638T>C (n.*1638T>C)
n.1793T>C
c.3657T>C (p.His1219=)
c.3615T>C (p.His1205=)
c.3600T>C (p.His1200=)
c.3588T>C (p.His1196=)
c.3561T>C (p.His1187=)
c.3543T>C (p.His1181=)
n.3856T>C
6g.75914250T>GCA364762352MYO6c.3531T>G (p.His1177Gln)
c.3627T>G (p.His1209Gln)
c.3558T>G (p.His1186Gln)
c.3654T>G (p.His1218Gln)
c.*1638T>G (n.*1638T>G)
n.1793T>G
c.3657T>G (p.His1219Gln)
c.3615T>G (p.His1205Gln)
c.3600T>G (p.His1200Gln)
c.3588T>G (p.His1196Gln)
c.3561T>G (p.His1187Gln)
c.3543T>G (p.His1181Gln)
n.3856T>G
6g.75914251C>ACA364762358MYO6c.3532C>A (p.Pro1178Thr)
c.3628C>A (p.Pro1210Thr)
c.3559C>A (p.Pro1187Thr)
c.3655C>A (p.Pro1219Thr)
c.*1639C>A (n.*1639C>A)
n.1794C>A
c.3658C>A (p.Pro1220Thr)
c.3616C>A (p.Pro1206Thr)
c.3601C>A (p.Pro1201Thr)
c.3589C>A (p.Pro1197Thr)
c.3562C>A (p.Pro1188Thr)
c.3544C>A (p.Pro1182Thr)
n.3857C>A
6g.75914251C>GCA364762361MYO6c.3532C>G (p.Pro1178Ala)
c.3628C>G (p.Pro1210Ala)
c.3559C>G (p.Pro1187Ala)
c.3655C>G (p.Pro1219Ala)
c.*1639C>G (n.*1639C>G)
n.1794C>G
c.3658C>G (p.Pro1220Ala)
c.3616C>G (p.Pro1206Ala)
c.3601C>G (p.Pro1201Ala)
c.3589C>G (p.Pro1197Ala)
c.3562C>G (p.Pro1188Ala)
c.3544C>G (p.Pro1182Ala)
n.3857C>G
6g.75914251C>TCA364762359MYO6c.3532C>T (p.Pro1178Ser)
c.3628C>T (p.Pro1210Ser)
c.3559C>T (p.Pro1187Ser)
c.3655C>T (p.Pro1219Ser)
c.*1639C>T (n.*1639C>T)
n.1794C>T
c.3658C>T (p.Pro1220Ser)
c.3616C>T (p.Pro1206Ser)
c.3601C>T (p.Pro1201Ser)
c.3589C>T (p.Pro1197Ser)
c.3562C>T (p.Pro1188Ser)
c.3544C>T (p.Pro1182Ser)
n.3857C>T
 dbSNP gnomAD v2 gnomAD v4
6g.75914252C>ACA364762365MYO6c.3533C>A (p.Pro1178His)
c.3629C>A (p.Pro1210His)
c.3560C>A (p.Pro1187His)
c.3656C>A (p.Pro1219His)
c.*1640C>A (n.*1640C>A)
n.1795C>A
c.3659C>A (p.Pro1220His)
c.3617C>A (p.Pro1206His)
c.3602C>A (p.Pro1201His)
c.3590C>A (p.Pro1197His)
c.3563C>A (p.Pro1188His)
c.3545C>A (p.Pro1182His)
n.3858C>A
6g.75914252C>GCA364762367MYO6c.3533C>G (p.Pro1178Arg)
c.3629C>G (p.Pro1210Arg)
c.3560C>G (p.Pro1187Arg)
c.3656C>G (p.Pro1219Arg)
c.*1640C>G (n.*1640C>G)
n.1795C>G
c.3659C>G (p.Pro1220Arg)
c.3617C>G (p.Pro1206Arg)
c.3602C>G (p.Pro1201Arg)
c.3590C>G (p.Pro1197Arg)
c.3563C>G (p.Pro1188Arg)
c.3545C>G (p.Pro1182Arg)
n.3858C>G
6g.75914252C>TCA364762369MYO6c.3533C>T (p.Pro1178Leu)
c.3629C>T (p.Pro1210Leu)
c.3560C>T (p.Pro1187Leu)
c.3656C>T (p.Pro1219Leu)
c.*1640C>T (n.*1640C>T)
n.1795C>T
c.3659C>T (p.Pro1220Leu)
c.3617C>T (p.Pro1206Leu)
c.3602C>T (p.Pro1201Leu)
c.3590C>T (p.Pro1197Leu)
c.3563C>T (p.Pro1188Leu)
c.3545C>T (p.Pro1182Leu)
n.3858C>T
6g.75914253T>ACA450938569MYO6c.3534T>A (p.Pro1178=)
c.3630T>A (p.Pro1210=)
c.3561T>A (p.Pro1187=)
c.3657T>A (p.Pro1219=)
c.*1641T>A (n.*1641T>A)
n.1796T>A
c.3660T>A (p.Pro1220=)
c.3618T>A (p.Pro1206=)
c.3603T>A (p.Pro1201=)
c.3591T>A (p.Pro1197=)
c.3564T>A (p.Pro1188=)
c.3546T>A (p.Pro1182=)
n.3859T>A
6g.75914253T>CCA450938570MYO6c.3534T>C (p.Pro1178=)
c.3630T>C (p.Pro1210=)
c.3561T>C (p.Pro1187=)
c.3657T>C (p.Pro1219=)
c.*1641T>C (n.*1641T>C)
n.1796T>C
c.3660T>C (p.Pro1220=)
c.3618T>C (p.Pro1206=)
c.3603T>C (p.Pro1201=)
c.3591T>C (p.Pro1197=)
c.3564T>C (p.Pro1188=)
c.3546T>C (p.Pro1182=)
n.3859T>C
6g.75914253T>GCA450938571MYO6c.3534T>G (p.Pro1178=)
c.3630T>G (p.Pro1210=)
c.3561T>G (p.Pro1187=)
c.3657T>G (p.Pro1219=)
c.*1641T>G (n.*1641T>G)
n.1796T>G
c.3660T>G (p.Pro1220=)
c.3618T>G (p.Pro1206=)
c.3603T>G (p.Pro1201=)
c.3591T>G (p.Pro1197=)
c.3564T>G (p.Pro1188=)
c.3546T>G (p.Pro1182=)
n.3859T>G
6g.75914254G>ACA364762372MYO6c.3535G>A (p.Asp1179Asn)
c.3631G>A (p.Asp1211Asn)
c.3562G>A (p.Asp1188Asn)
c.3658G>A (p.Asp1220Asn)
c.*1642G>A (n.*1642G>A)
n.1797G>A
c.3661G>A (p.Asp1221Asn)
c.3619G>A (p.Asp1207Asn)
c.3604G>A (p.Asp1202Asn)
c.3592G>A (p.Asp1198Asn)
c.3565G>A (p.Asp1189Asn)
c.3547G>A (p.Asp1183Asn)
n.3860G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.75914254G>CCA364762374MYO6c.3535G>C (p.Asp1179His)
c.3631G>C (p.Asp1211His)
c.3562G>C (p.Asp1188His)
c.3658G>C (p.Asp1220His)
c.*1642G>C (n.*1642G>C)
n.1797G>C
c.3661G>C (p.Asp1221His)
c.3619G>C (p.Asp1207His)
c.3604G>C (p.Asp1202His)
c.3592G>C (p.Asp1198His)
c.3565G>C (p.Asp1189His)
c.3547G>C (p.Asp1183His)
n.3860G>C
6g.75914254G>TCA364762378MYO6c.3535G>T (p.Asp1179Tyr)
c.3631G>T (p.Asp1211Tyr)
c.3562G>T (p.Asp1188Tyr)
c.3658G>T (p.Asp1220Tyr)
c.*1642G>T (n.*1642G>T)
n.1797G>T
c.3661G>T (p.Asp1221Tyr)
c.3619G>T (p.Asp1207Tyr)
c.3604G>T (p.Asp1202Tyr)
c.3592G>T (p.Asp1198Tyr)
c.3565G>T (p.Asp1189Tyr)
c.3547G>T (p.Asp1183Tyr)
n.3860G>T
6g.75914255A>CCA364762382MYO6c.3536A>C (p.Asp1179Ala)
c.3632A>C (p.Asp1211Ala)
c.3563A>C (p.Asp1188Ala)
c.3659A>C (p.Asp1220Ala)
c.*1643A>C (n.*1643A>C)
n.1798A>C
c.3662A>C (p.Asp1221Ala)
c.3620A>C (p.Asp1207Ala)
c.3605A>C (p.Asp1202Ala)
c.3593A>C (p.Asp1198Ala)
c.3566A>C (p.Asp1189Ala)
c.3548A>C (p.Asp1183Ala)
n.3861A>C
6g.75914255A>GCA364762386MYO6c.3536A>G (p.Asp1179Gly)
c.3632A>G (p.Asp1211Gly)
c.3563A>G (p.Asp1188Gly)
c.3659A>G (p.Asp1220Gly)
c.*1643A>G (n.*1643A>G)
n.1798A>G
c.3662A>G (p.Asp1221Gly)
c.3620A>G (p.Asp1207Gly)
c.3605A>G (p.Asp1202Gly)
c.3593A>G (p.Asp1198Gly)
c.3566A>G (p.Asp1189Gly)
c.3548A>G (p.Asp1183Gly)
n.3861A>G
6g.75914255A>TCA364762388MYO6c.3536A>T (p.Asp1179Val)
c.3632A>T (p.Asp1211Val)
c.3563A>T (p.Asp1188Val)
c.3659A>T (p.Asp1220Val)
c.*1643A>T (n.*1643A>T)
n.1798A>T
c.3662A>T (p.Asp1221Val)
c.3620A>T (p.Asp1207Val)
c.3605A>T (p.Asp1202Val)
c.3593A>T (p.Asp1198Val)
c.3566A>T (p.Asp1189Val)
c.3548A>T (p.Asp1183Val)
n.3861A>T
6g.75914256C>ACA364762391MYO6c.3537C>A (p.Asp1179Glu)
c.3633C>A (p.Asp1211Glu)
c.3564C>A (p.Asp1188Glu)
c.3660C>A (p.Asp1220Glu)
c.*1644C>A (n.*1644C>A)
n.1799C>A
c.3663C>A (p.Asp1221Glu)
c.3621C>A (p.Asp1207Glu)
c.3606C>A (p.Asp1202Glu)
c.3594C>A (p.Asp1198Glu)
c.3567C>A (p.Asp1189Glu)
c.3549C>A (p.Asp1183Glu)
n.3862C>A
 dbSNP gnomAD v4
6g.75914256C>GCA364762393MYO6c.3537C>G (p.Asp1179Glu)
c.3633C>G (p.Asp1211Glu)
c.3564C>G (p.Asp1188Glu)
c.3660C>G (p.Asp1220Glu)
c.*1644C>G (n.*1644C>G)
n.1799C>G
c.3663C>G (p.Asp1221Glu)
c.3621C>G (p.Asp1207Glu)
c.3606C>G (p.Asp1202Glu)
c.3594C>G (p.Asp1198Glu)
c.3567C>G (p.Asp1189Glu)
c.3549C>G (p.Asp1183Glu)
n.3862C>G
 gnomAD v4
6g.75914256C>TCA450938572MYO6c.3537C>T (p.Asp1179=)
c.3633C>T (p.Asp1211=)
c.3564C>T (p.Asp1188=)
c.3660C>T (p.Asp1220=)
c.*1644C>T (n.*1644C>T)
n.1799C>T
c.3663C>T (p.Asp1221=)
c.3621C>T (p.Asp1207=)
c.3606C>T (p.Asp1202=)
c.3594C>T (p.Asp1198=)
c.3567C>T (p.Asp1189=)
c.3549C>T (p.Asp1183=)
n.3862C>T
6g.75914257A>CCA364762402MYO6c.3538A>C (p.Lys1180Gln)
c.3634A>C (p.Lys1212Gln)
c.3565A>C (p.Lys1189Gln)
c.3661A>C (p.Lys1221Gln)
c.*1645A>C (n.*1645A>C)
n.1800A>C
c.3664A>C (p.Lys1222Gln)
c.3622A>C (p.Lys1208Gln)
c.3607A>C (p.Lys1203Gln)
c.3595A>C (p.Lys1199Gln)
c.3568A>C (p.Lys1190Gln)
c.3550A>C (p.Lys1184Gln)
n.3863A>C
6g.75914257A>GCA364762400MYO6c.3538A>G (p.Lys1180Glu)
c.3634A>G (p.Lys1212Glu)
c.3565A>G (p.Lys1189Glu)
c.3661A>G (p.Lys1221Glu)
c.*1645A>G (n.*1645A>G)
n.1800A>G
c.3664A>G (p.Lys1222Glu)
c.3622A>G (p.Lys1208Glu)
c.3607A>G (p.Lys1203Glu)
c.3595A>G (p.Lys1199Glu)
c.3568A>G (p.Lys1190Glu)
c.3550A>G (p.Lys1184Glu)
n.3863A>G
6g.75914257A>TCA364762397MYO6c.3538A>T (p.Lys1180Ter)
c.3634A>T (p.Lys1212Ter)
c.3565A>T (p.Lys1189Ter)
c.3661A>T (p.Lys1221Ter)
c.*1645A>T (n.*1645A>T)
n.1800A>T
c.3664A>T (p.Lys1222Ter)
c.3622A>T (p.Lys1208Ter)
c.3607A>T (p.Lys1203Ter)
c.3595A>T (p.Lys1199Ter)
c.3568A>T (p.Lys1190Ter)
c.3550A>T (p.Lys1184Ter)
n.3863A>T
6g.75914258A>CCA364762406MYO6c.3539A>C (p.Lys1180Thr)
c.3635A>C (p.Lys1212Thr)
c.3566A>C (p.Lys1189Thr)
c.3662A>C (p.Lys1221Thr)
c.*1646A>C (n.*1646A>C)
n.1801A>C
c.3665A>C (p.Lys1222Thr)
c.3623A>C (p.Lys1208Thr)
c.3608A>C (p.Lys1203Thr)
c.3596A>C (p.Lys1199Thr)
c.3569A>C (p.Lys1190Thr)
c.3551A>C (p.Lys1184Thr)
n.3864A>C
6g.75914258A>GCA364762409MYO6c.3539A>G (p.Lys1180Arg)
c.3635A>G (p.Lys1212Arg)
c.3566A>G (p.Lys1189Arg)
c.3662A>G (p.Lys1221Arg)
c.*1646A>G (n.*1646A>G)
n.1801A>G
c.3665A>G (p.Lys1222Arg)
c.3623A>G (p.Lys1208Arg)
c.3608A>G (p.Lys1203Arg)
c.3596A>G (p.Lys1199Arg)
c.3569A>G (p.Lys1190Arg)
c.3551A>G (p.Lys1184Arg)
n.3864A>G
6g.75914258A>TCA364762412MYO6c.3539A>T (p.Lys1180Met)
c.3635A>T (p.Lys1212Met)
c.3566A>T (p.Lys1189Met)
c.3662A>T (p.Lys1221Met)
c.*1646A>T (n.*1646A>T)
n.1801A>T
c.3665A>T (p.Lys1222Met)
c.3623A>T (p.Lys1208Met)
c.3608A>T (p.Lys1203Met)
c.3596A>T (p.Lys1199Met)
c.3569A>T (p.Lys1190Met)
c.3551A>T (p.Lys1184Met)
n.3864A>T
6g.75914259G>ACA450938573MYO6c.3540G>A (p.Lys1180=)
c.3636G>A (p.Lys1212=)
c.3567G>A (p.Lys1189=)
c.3663G>A (p.Lys1221=)
c.*1647G>A (n.*1647G>A)
n.1802G>A
c.3666G>A (p.Lys1222=)
c.3624G>A (p.Lys1208=)
c.3609G>A (p.Lys1203=)
c.3597G>A (p.Lys1199=)
c.3570G>A (p.Lys1190=)
c.3552G>A (p.Lys1184=)
n.3865G>A
 gnomAD v4
6g.75914259G>CCA364762415MYO6c.3540G>C (p.Lys1180Asn)
c.3636G>C (p.Lys1212Asn)
c.3567G>C (p.Lys1189Asn)
c.3663G>C (p.Lys1221Asn)
c.*1647G>C (n.*1647G>C)
n.1802G>C
c.3666G>C (p.Lys1222Asn)
c.3624G>C (p.Lys1208Asn)
c.3609G>C (p.Lys1203Asn)
c.3597G>C (p.Lys1199Asn)
c.3570G>C (p.Lys1190Asn)
c.3552G>C (p.Lys1184Asn)
n.3865G>C
6g.75914259G>TCA364762418MYO6c.3540G>T (p.Lys1180Asn)
c.3636G>T (p.Lys1212Asn)
c.3567G>T (p.Lys1189Asn)
c.3663G>T (p.Lys1221Asn)
c.*1647G>T (n.*1647G>T)
n.1802G>T
c.3666G>T (p.Lys1222Asn)
c.3624G>T (p.Lys1208Asn)
c.3609G>T (p.Lys1203Asn)
c.3597G>T (p.Lys1199Asn)
c.3570G>T (p.Lys1190Asn)
c.3552G>T (p.Lys1184Asn)
n.3865G>T
6g.75914260C>ACA364762421MYO6c.3541C>A (p.Pro1181Thr)
c.3637C>A (p.Pro1213Thr)
c.3568C>A (p.Pro1190Thr)
c.3664C>A (p.Pro1222Thr)
c.*1648C>A (n.*1648C>A)
n.1803C>A
c.3667C>A (p.Pro1223Thr)
c.3625C>A (p.Pro1209Thr)
c.3610C>A (p.Pro1204Thr)
c.3598C>A (p.Pro1200Thr)
c.3571C>A (p.Pro1191Thr)
c.3553C>A (p.Pro1185Thr)
n.3866C>A
6g.75914260C>GCA364762422MYO6c.3541C>G (p.Pro1181Ala)
c.3637C>G (p.Pro1213Ala)
c.3568C>G (p.Pro1190Ala)
c.3664C>G (p.Pro1222Ala)
c.*1648C>G (n.*1648C>G)
n.1803C>G
c.3667C>G (p.Pro1223Ala)
c.3625C>G (p.Pro1209Ala)
c.3610C>G (p.Pro1204Ala)
c.3598C>G (p.Pro1200Ala)
c.3571C>G (p.Pro1191Ala)
c.3553C>G (p.Pro1185Ala)
n.3866C>G
6g.75914260C>TCA3897772MYO6c.3541C>T (p.Pro1181Ser)
c.3637C>T (p.Pro1213Ser)
c.3568C>T (p.Pro1190Ser)
c.3664C>T (p.Pro1222Ser)
c.*1648C>T (n.*1648C>T)
n.1803C>T
c.3667C>T (p.Pro1223Ser)
c.3625C>T (p.Pro1209Ser)
c.3610C>T (p.Pro1204Ser)
c.3598C>T (p.Pro1200Ser)
c.3571C>T (p.Pro1191Ser)
c.3553C>T (p.Pro1185Ser)
n.3866C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914261C>ACA364762424MYO6c.3542C>A (p.Pro1181Gln)
c.3638C>A (p.Pro1213Gln)
c.3569C>A (p.Pro1190Gln)
c.3665C>A (p.Pro1222Gln)
c.*1649C>A (n.*1649C>A)
n.1804C>A
c.3668C>A (p.Pro1223Gln)
c.3626C>A (p.Pro1209Gln)
c.3611C>A (p.Pro1204Gln)
c.3599C>A (p.Pro1200Gln)
c.3572C>A (p.Pro1191Gln)
c.3554C>A (p.Pro1185Gln)
n.3867C>A
6g.75914261C>GCA364762428MYO6c.3542C>G (p.Pro1181Arg)
c.3638C>G (p.Pro1213Arg)
c.3569C>G (p.Pro1190Arg)
c.3665C>G (p.Pro1222Arg)
c.*1649C>G (n.*1649C>G)
n.1804C>G
c.3668C>G (p.Pro1223Arg)
c.3626C>G (p.Pro1209Arg)
c.3611C>G (p.Pro1204Arg)
c.3599C>G (p.Pro1200Arg)
c.3572C>G (p.Pro1191Arg)
c.3554C>G (p.Pro1185Arg)
n.3867C>G
6g.75914261C>TCA364762426MYO6c.3542C>T (p.Pro1181Leu)
c.3638C>T (p.Pro1213Leu)
c.3569C>T (p.Pro1190Leu)
c.3665C>T (p.Pro1222Leu)
c.*1649C>T (n.*1649C>T)
n.1804C>T
c.3668C>T (p.Pro1223Leu)
c.3626C>T (p.Pro1209Leu)
c.3611C>T (p.Pro1204Leu)
c.3599C>T (p.Pro1200Leu)
c.3572C>T (p.Pro1191Leu)
c.3554C>T (p.Pro1185Leu)
n.3867C>T
 dbSNP gnomAD v2 gnomAD v4
6g.75914262A>CCA450938575MYO6c.3543A>C (p.Pro1181=)
c.3639A>C (p.Pro1213=)
c.3570A>C (p.Pro1190=)
c.3666A>C (p.Pro1222=)
c.*1650A>C (n.*1650A>C)
n.1805A>C
c.3669A>C (p.Pro1223=)
c.3627A>C (p.Pro1209=)
c.3612A>C (p.Pro1204=)
c.3600A>C (p.Pro1200=)
c.3573A>C (p.Pro1191=)
c.3555A>C (p.Pro1185=)
n.3868A>C
6g.75914262A>GCA3897773MYO6c.3543A>G (p.Pro1181=)
c.3639A>G (p.Pro1213=)
c.3570A>G (p.Pro1190=)
c.3666A>G (p.Pro1222=)
c.*1650A>G (n.*1650A>G)
n.1805A>G
c.3669A>G (p.Pro1223=)
c.3627A>G (p.Pro1209=)
c.3612A>G (p.Pro1204=)
c.3600A>G (p.Pro1200=)
c.3573A>G (p.Pro1191=)
c.3555A>G (p.Pro1185=)
n.3868A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914262A>TCA450938574MYO6c.3543A>T (p.Pro1181=)
c.3639A>T (p.Pro1213=)
c.3570A>T (p.Pro1190=)
c.3666A>T (p.Pro1222=)
c.*1650A>T (n.*1650A>T)
n.1805A>T
c.3669A>T (p.Pro1223=)
c.3627A>T (p.Pro1209=)
c.3612A>T (p.Pro1204=)
c.3600A>T (p.Pro1200=)
c.3573A>T (p.Pro1191=)
c.3555A>T (p.Pro1185=)
n.3868A>T
6g.75914263C>ACA364762431MYO6c.3544C>A (p.Pro1182Thr)
c.3640C>A (p.Pro1214Thr)
c.3571C>A (p.Pro1191Thr)
c.3667C>A (p.Pro1223Thr)
c.*1651C>A (n.*1651C>A)
n.1806C>A
c.3670C>A (p.Pro1224Thr)
c.3628C>A (p.Pro1210Thr)
c.3613C>A (p.Pro1205Thr)
c.3601C>A (p.Pro1201Thr)
c.3574C>A (p.Pro1192Thr)
c.3556C>A (p.Pro1186Thr)
n.3869C>A
6g.75914263C>GCA364762438MYO6c.3544C>G (p.Pro1182Ala)
c.3640C>G (p.Pro1214Ala)
c.3571C>G (p.Pro1191Ala)
c.3667C>G (p.Pro1223Ala)
c.*1651C>G (n.*1651C>G)
n.1806C>G
c.3670C>G (p.Pro1224Ala)
c.3628C>G (p.Pro1210Ala)
c.3613C>G (p.Pro1205Ala)
c.3601C>G (p.Pro1201Ala)
c.3574C>G (p.Pro1192Ala)
c.3556C>G (p.Pro1186Ala)
n.3869C>G
 gnomAD v4
6g.75914263C>TCA3897774MYO6c.3544C>T (p.Pro1182Ser)
c.3640C>T (p.Pro1214Ser)
c.3571C>T (p.Pro1191Ser)
c.3667C>T (p.Pro1223Ser)
c.*1651C>T (n.*1651C>T)
n.1806C>T
c.3670C>T (p.Pro1224Ser)
c.3628C>T (p.Pro1210Ser)
c.3613C>T (p.Pro1205Ser)
c.3601C>T (p.Pro1201Ser)
c.3574C>T (p.Pro1192Ser)
c.3556C>T (p.Pro1186Ser)
n.3869C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75914264C>ACA364762444MYO6c.3545C>A (p.Pro1182His)
c.3641C>A (p.Pro1214His)
c.3572C>A (p.Pro1191His)
c.3668C>A (p.Pro1223His)
c.*1652C>A (n.*1652C>A)
n.1807C>A
c.3671C>A (p.Pro1224His)
c.3629C>A (p.Pro1210His)
c.3614C>A (p.Pro1205His)
c.3602C>A (p.Pro1201His)
c.3575C>A (p.Pro1192His)
c.3557C>A (p.Pro1186His)
n.3870C>A
6g.75914264C>GCA364762448MYO6c.3545C>G (p.Pro1182Arg)
c.3641C>G (p.Pro1214Arg)
c.3572C>G (p.Pro1191Arg)
c.3668C>G (p.Pro1223Arg)
c.*1652C>G (n.*1652C>G)
n.1807C>G
c.3671C>G (p.Pro1224Arg)
c.3629C>G (p.Pro1210Arg)
c.3614C>G (p.Pro1205Arg)
c.3602C>G (p.Pro1201Arg)
c.3575C>G (p.Pro1192Arg)
c.3557C>G (p.Pro1186Arg)
n.3870C>G
6g.75914264C>TCA364762447MYO6c.3545C>T (p.Pro1182Leu)
c.3641C>T (p.Pro1214Leu)
c.3572C>T (p.Pro1191Leu)
c.3668C>T (p.Pro1223Leu)
c.*1652C>T (n.*1652C>T)
n.1807C>T
c.3671C>T (p.Pro1224Leu)
c.3629C>T (p.Pro1210Leu)
c.3614C>T (p.Pro1205Leu)
c.3602C>T (p.Pro1201Leu)
c.3575C>T (p.Pro1192Leu)
c.3557C>T (p.Pro1186Leu)
n.3870C>T
 gnomAD v4
6g.75914265C>ACA450938576MYO6c.3546C>A (p.Pro1182=)
c.3642C>A (p.Pro1214=)
c.3573C>A (p.Pro1191=)
c.3669C>A (p.Pro1223=)
c.*1653C>A (n.*1653C>A)
n.1808C>A
c.3672C>A (p.Pro1224=)
c.3630C>A (p.Pro1210=)
c.3615C>A (p.Pro1205=)
c.3603C>A (p.Pro1201=)
c.3576C>A (p.Pro1192=)
c.3558C>A (p.Pro1186=)
n.3871C>A
 gnomAD v4
6g.75914265C>GCA450938577MYO6c.3546C>G (p.Pro1182=)
c.3642C>G (p.Pro1214=)
c.3573C>G (p.Pro1191=)
c.3669C>G (p.Pro1223=)
c.*1653C>G (n.*1653C>G)
n.1808C>G
c.3672C>G (p.Pro1224=)
c.3630C>G (p.Pro1210=)
c.3615C>G (p.Pro1205=)
c.3603C>G (p.Pro1201=)
c.3576C>G (p.Pro1192=)
c.3558C>G (p.Pro1186=)
n.3871C>G
6g.75914265C>TCA450938578MYO6c.3546C>T (p.Pro1182=)
c.3642C>T (p.Pro1214=)
c.3573C>T (p.Pro1191=)
c.3669C>T (p.Pro1223=)
c.*1653C>T (n.*1653C>T)
n.1808C>T
c.3672C>T (p.Pro1224=)
c.3630C>T (p.Pro1210=)
c.3615C>T (p.Pro1205=)
c.3603C>T (p.Pro1201=)
c.3576C>T (p.Pro1192=)
c.3558C>T (p.Pro1186=)
n.3871C>T
 gnomAD v4
6g.75914266A>CCA364762452MYO6c.3547A>C (p.Ile1183Leu)
c.3643A>C (p.Ile1215Leu)
c.3574A>C (p.Ile1192Leu)
c.3670A>C (p.Ile1224Leu)
c.*1654A>C (n.*1654A>C)
n.1809A>C
c.3673A>C (p.Ile1225Leu)
c.3631A>C (p.Ile1211Leu)
c.3616A>C (p.Ile1206Leu)
c.3604A>C (p.Ile1202Leu)
c.3577A>C (p.Ile1193Leu)
c.3559A>C (p.Ile1187Leu)
n.3872A>C
6g.75914266A>GCA364762454MYO6c.3547A>G (p.Ile1183Val)
c.3643A>G (p.Ile1215Val)
c.3574A>G (p.Ile1192Val)
c.3670A>G (p.Ile1224Val)
c.*1654A>G (n.*1654A>G)
n.1809A>G
c.3673A>G (p.Ile1225Val)
c.3631A>G (p.Ile1211Val)
c.3616A>G (p.Ile1206Val)
c.3604A>G (p.Ile1202Val)
c.3577A>G (p.Ile1193Val)
c.3559A>G (p.Ile1187Val)
n.3872A>G
 gnomAD v4
6g.75914266A>TCA364762461MYO6c.3547A>T (p.Ile1183Phe)
c.3643A>T (p.Ile1215Phe)
c.3574A>T (p.Ile1192Phe)
c.3670A>T (p.Ile1224Phe)
c.*1654A>T (n.*1654A>T)
n.1809A>T
c.3673A>T (p.Ile1225Phe)
c.3631A>T (p.Ile1211Phe)
c.3616A>T (p.Ile1206Phe)
c.3604A>T (p.Ile1202Phe)
c.3577A>T (p.Ile1193Phe)
c.3559A>T (p.Ile1187Phe)
n.3872A>T
6g.75914267T>ACA364762466MYO6c.3548T>A (p.Ile1183Asn)
c.3644T>A (p.Ile1215Asn)
c.3575T>A (p.Ile1192Asn)
c.3671T>A (p.Ile1224Asn)
c.*1655T>A (n.*1655T>A)
n.1810T>A
c.3674T>A (p.Ile1225Asn)
c.3632T>A (p.Ile1211Asn)
c.3617T>A (p.Ile1206Asn)
c.3605T>A (p.Ile1202Asn)
c.3578T>A (p.Ile1193Asn)
c.3560T>A (p.Ile1187Asn)
n.3873T>A
6g.75914267T>CCA364762468MYO6c.3548T>C (p.Ile1183Thr)
c.3644T>C (p.Ile1215Thr)
c.3575T>C (p.Ile1192Thr)
c.3671T>C (p.Ile1224Thr)
c.*1655T>C (n.*1655T>C)
n.1810T>C
c.3674T>C (p.Ile1225Thr)
c.3632T>C (p.Ile1211Thr)
c.3617T>C (p.Ile1206Thr)
c.3605T>C (p.Ile1202Thr)
c.3578T>C (p.Ile1193Thr)
c.3560T>C (p.Ile1187Thr)
n.3873T>C
 ClinVar dbSNP
6g.75914267T>GCA364762471MYO6c.3548T>G (p.Ile1183Ser)
c.3644T>G (p.Ile1215Ser)
c.3575T>G (p.Ile1192Ser)
c.3671T>G (p.Ile1224Ser)
c.*1655T>G (n.*1655T>G)
n.1810T>G
c.3674T>G (p.Ile1225Ser)
c.3632T>G (p.Ile1211Ser)
c.3617T>G (p.Ile1206Ser)
c.3605T>G (p.Ile1202Ser)
c.3578T>G (p.Ile1193Ser)
c.3560T>G (p.Ile1187Ser)
n.3873T>G
6g.75914268_75914285delCA3897775MYO6c.3549_3562+4del
c.3645_3658+4del
c.3576_3589+4del
c.3672_3685+4del
c.*1656_*1669+4del
n.1811_1824+4del
c.3675_3688+4del
c.3633_3646+4del
c.3618_3631+4del
c.3606_3619+4del
c.3579_3592+4del
c.3561_3574+4del
n.3874_3887+4del
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914268C>ACA3897776MYO6c.3549C>A (p.Ile1183=)
c.3645C>A (p.Ile1215=)
c.3576C>A (p.Ile1192=)
c.3672C>A (p.Ile1224=)
c.*1656C>A (n.*1656C>A)
n.1811C>A
c.3675C>A (p.Ile1225=)
c.3633C>A (p.Ile1211=)
c.3618C>A (p.Ile1206=)
c.3606C>A (p.Ile1202=)
c.3579C>A (p.Ile1193=)
c.3561C>A (p.Ile1187=)
n.3874C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75914268C>GCA364762476MYO6c.3549C>G (p.Ile1183Met)
c.3645C>G (p.Ile1215Met)
c.3576C>G (p.Ile1192Met)
c.3672C>G (p.Ile1224Met)
c.*1656C>G (n.*1656C>G)
n.1811C>G
c.3675C>G (p.Ile1225Met)
c.3633C>G (p.Ile1211Met)
c.3618C>G (p.Ile1206Met)
c.3606C>G (p.Ile1202Met)
c.3579C>G (p.Ile1193Met)
c.3561C>G (p.Ile1187Met)
n.3874C>G
6g.75914268C>TCA141060388MYO6c.3549C>T (p.Ile1183=)
c.3645C>T (p.Ile1215=)
c.3576C>T (p.Ile1192=)
c.3672C>T (p.Ile1224=)
c.*1656C>T (n.*1656C>T)
n.1811C>T
c.3675C>T (p.Ile1225=)
c.3633C>T (p.Ile1211=)
c.3618C>T (p.Ile1206=)
c.3606C>T (p.Ile1202=)
c.3579C>T (p.Ile1193=)
c.3561C>T (p.Ile1187=)
n.3874C>T
 dbSNP gnomAD v3 gnomAD v4
6g.75914269C>ACA364762485MYO6c.3550C>A (p.Leu1184Ile)
c.3646C>A (p.Leu1216Ile)
c.3577C>A (p.Leu1193Ile)
c.3673C>A (p.Leu1225Ile)
c.*1657C>A (n.*1657C>A)
n.1812C>A
c.3676C>A (p.Leu1226Ile)
c.3634C>A (p.Leu1212Ile)
c.3619C>A (p.Leu1207Ile)
c.3607C>A (p.Leu1203Ile)
c.3580C>A (p.Leu1194Ile)
c.3562C>A (p.Leu1188Ile)
n.3875C>A
6g.75914269C>GCA10576710MYO6c.3550C>G (p.Leu1184Val)
c.3646C>G (p.Leu1216Val)
c.3577C>G (p.Leu1193Val)
c.3673C>G (p.Leu1225Val)
c.*1657C>G (n.*1657C>G)
n.1812C>G
c.3676C>G (p.Leu1226Val)
c.3634C>G (p.Leu1212Val)
c.3619C>G (p.Leu1207Val)
c.3607C>G (p.Leu1203Val)
c.3580C>G (p.Leu1194Val)
c.3562C>G (p.Leu1188Val)
n.3875C>G
 ClinVar dbSNP gnomAD v4
6g.75914269C>TCA450938579MYO6c.3550C>T (p.Leu1184=)
c.3646C>T (p.Leu1216=)
c.3577C>T (p.Leu1193=)
c.3673C>T (p.Leu1225=)
c.*1657C>T (n.*1657C>T)
n.1812C>T
c.3676C>T (p.Leu1226=)
c.3634C>T (p.Leu1212=)
c.3619C>T (p.Leu1207=)
c.3607C>T (p.Leu1203=)
c.3580C>T (p.Leu1194=)
c.3562C>T (p.Leu1188=)
n.3875C>T
6g.75914270T>ACA364762487MYO6c.3551T>A (p.Leu1184Gln)
c.3647T>A (p.Leu1216Gln)
c.3578T>A (p.Leu1193Gln)
c.3674T>A (p.Leu1225Gln)
c.*1658T>A (n.*1658T>A)
n.1813T>A
c.3677T>A (p.Leu1226Gln)
c.3635T>A (p.Leu1212Gln)
c.3620T>A (p.Leu1207Gln)
c.3608T>A (p.Leu1203Gln)
c.3581T>A (p.Leu1194Gln)
c.3563T>A (p.Leu1188Gln)
n.3876T>A
 dbSNP
6g.75914270T>CCA364762492MYO6c.3551T>C (p.Leu1184Pro)
c.3647T>C (p.Leu1216Pro)
c.3578T>C (p.Leu1193Pro)
c.3674T>C (p.Leu1225Pro)
c.*1658T>C (n.*1658T>C)
n.1813T>C
c.3677T>C (p.Leu1226Pro)
c.3635T>C (p.Leu1212Pro)
c.3620T>C (p.Leu1207Pro)
c.3608T>C (p.Leu1203Pro)
c.3581T>C (p.Leu1194Pro)
c.3563T>C (p.Leu1188Pro)
n.3876T>C
 gnomAD v4
6g.75914270T>GCA364762489MYO6c.3551T>G (p.Leu1184Arg)
c.3647T>G (p.Leu1216Arg)
c.3578T>G (p.Leu1193Arg)
c.3674T>G (p.Leu1225Arg)
c.*1658T>G (n.*1658T>G)
n.1813T>G
c.3677T>G (p.Leu1226Arg)
c.3635T>G (p.Leu1212Arg)
c.3620T>G (p.Leu1207Arg)
c.3608T>G (p.Leu1203Arg)
c.3581T>G (p.Leu1194Arg)
c.3563T>G (p.Leu1188Arg)
n.3876T>G
6g.75914271A>CCA450938580MYO6c.3552A>C (p.Leu1184=)
c.3648A>C (p.Leu1216=)
c.3579A>C (p.Leu1193=)
c.3675A>C (p.Leu1225=)
c.*1659A>C (n.*1659A>C)
n.1814A>C
c.3678A>C (p.Leu1226=)
c.3636A>C (p.Leu1212=)
c.3621A>C (p.Leu1207=)
c.3609A>C (p.Leu1203=)
c.3582A>C (p.Leu1194=)
c.3564A>C (p.Leu1188=)
n.3877A>C
 dbSNP gnomAD v2 gnomAD v4
6g.75914271A>GCA450938581MYO6c.3552A>G (p.Leu1184=)
c.3648A>G (p.Leu1216=)
c.3579A>G (p.Leu1193=)
c.3675A>G (p.Leu1225=)
c.*1659A>G (n.*1659A>G)
n.1814A>G
c.3678A>G (p.Leu1226=)
c.3636A>G (p.Leu1212=)
c.3621A>G (p.Leu1207=)
c.3609A>G (p.Leu1203=)
c.3582A>G (p.Leu1194=)
c.3564A>G (p.Leu1188=)
n.3877A>G
 dbSNP gnomAD v2 gnomAD v4
6g.75914271A>TCA450938582MYO6c.3552A>T (p.Leu1184=)
c.3648A>T (p.Leu1216=)
c.3579A>T (p.Leu1193=)
c.3675A>T (p.Leu1225=)
c.*1659A>T (n.*1659A>T)
n.1814A>T
c.3678A>T (p.Leu1226=)
c.3636A>T (p.Leu1212=)
c.3621A>T (p.Leu1207=)
c.3609A>T (p.Leu1203=)
c.3582A>T (p.Leu1194=)
c.3564A>T (p.Leu1188=)
n.3877A>T
 gnomAD v4
6g.75914272C>ACA364762495MYO6c.3553C>A (p.Leu1185Ile)
c.3649C>A (p.Leu1217Ile)
c.3580C>A (p.Leu1194Ile)
c.3676C>A (p.Leu1226Ile)
c.*1660C>A (n.*1660C>A)
n.1815C>A
c.3679C>A (p.Leu1227Ile)
c.3637C>A (p.Leu1213Ile)
c.3622C>A (p.Leu1208Ile)
c.3610C>A (p.Leu1204Ile)
c.3583C>A (p.Leu1195Ile)
c.3565C>A (p.Leu1189Ile)
n.3878C>A
6g.75914272C>GCA364762497MYO6c.3553C>G (p.Leu1185Val)
c.3649C>G (p.Leu1217Val)
c.3580C>G (p.Leu1194Val)
c.3676C>G (p.Leu1226Val)
c.*1660C>G (n.*1660C>G)
n.1815C>G
c.3679C>G (p.Leu1227Val)
c.3637C>G (p.Leu1213Val)
c.3622C>G (p.Leu1208Val)
c.3610C>G (p.Leu1204Val)
c.3583C>G (p.Leu1195Val)
c.3565C>G (p.Leu1189Val)
n.3878C>G
6g.75914272C>TCA364762498MYO6c.3553C>T (p.Leu1185Phe)
c.3649C>T (p.Leu1217Phe)
c.3580C>T (p.Leu1194Phe)
c.3676C>T (p.Leu1226Phe)
c.*1660C>T (n.*1660C>T)
n.1815C>T
c.3679C>T (p.Leu1227Phe)
c.3637C>T (p.Leu1213Phe)
c.3622C>T (p.Leu1208Phe)
c.3610C>T (p.Leu1204Phe)
c.3583C>T (p.Leu1195Phe)
c.3565C>T (p.Leu1189Phe)
n.3878C>T
 gnomAD v4
6g.75914273T>ACA364762502MYO6c.3554T>A (p.Leu1185His)
c.3650T>A (p.Leu1217His)
c.3581T>A (p.Leu1194His)
c.3677T>A (p.Leu1226His)
c.*1661T>A (n.*1661T>A)
n.1816T>A
c.3680T>A (p.Leu1227His)
c.3638T>A (p.Leu1213His)
c.3623T>A (p.Leu1208His)
c.3611T>A (p.Leu1204His)
c.3584T>A (p.Leu1195His)
c.3566T>A (p.Leu1189His)
n.3879T>A
6g.75914273T>CCA364762504MYO6c.3554T>C (p.Leu1185Pro)
c.3650T>C (p.Leu1217Pro)
c.3581T>C (p.Leu1194Pro)
c.3677T>C (p.Leu1226Pro)
c.*1661T>C (n.*1661T>C)
n.1816T>C
c.3680T>C (p.Leu1227Pro)
c.3638T>C (p.Leu1213Pro)
c.3623T>C (p.Leu1208Pro)
c.3611T>C (p.Leu1204Pro)
c.3584T>C (p.Leu1195Pro)
c.3566T>C (p.Leu1189Pro)
n.3879T>C
6g.75914273T>GCA364762506MYO6c.3554T>G (p.Leu1185Arg)
c.3650T>G (p.Leu1217Arg)
c.3581T>G (p.Leu1194Arg)
c.3677T>G (p.Leu1226Arg)
c.*1661T>G (n.*1661T>G)
n.1816T>G
c.3680T>G (p.Leu1227Arg)
c.3638T>G (p.Leu1213Arg)
c.3623T>G (p.Leu1208Arg)
c.3611T>G (p.Leu1204Arg)
c.3584T>G (p.Leu1195Arg)
c.3566T>G (p.Leu1189Arg)
n.3879T>G
6g.75914274T>ACA450938583MYO6c.3555T>A (p.Leu1185=)
c.3651T>A (p.Leu1217=)
c.3582T>A (p.Leu1194=)
c.3678T>A (p.Leu1226=)
c.*1662T>A (n.*1662T>A)
n.1817T>A
c.3681T>A (p.Leu1227=)
c.3639T>A (p.Leu1213=)
c.3624T>A (p.Leu1208=)
c.3612T>A (p.Leu1204=)
c.3585T>A (p.Leu1195=)
c.3567T>A (p.Leu1189=)
n.3880T>A
6g.75914274T>CCA3897777MYO6c.3555T>C (p.Leu1185=)
c.3651T>C (p.Leu1217=)
c.3582T>C (p.Leu1194=)
c.3678T>C (p.Leu1226=)
c.*1662T>C (n.*1662T>C)
n.1817T>C
c.3681T>C (p.Leu1227=)
c.3639T>C (p.Leu1213=)
c.3624T>C (p.Leu1208=)
c.3612T>C (p.Leu1204=)
c.3585T>C (p.Leu1195=)
c.3567T>C (p.Leu1189=)
n.3880T>C
 dbSNP ExAC gnomAD v2
6g.75914274T>GCA450938584MYO6c.3555T>G (p.Leu1185=)
c.3651T>G (p.Leu1217=)
c.3582T>G (p.Leu1194=)
c.3678T>G (p.Leu1226=)
c.*1662T>G (n.*1662T>G)
n.1817T>G
c.3681T>G (p.Leu1227=)
c.3639T>G (p.Leu1213=)
c.3624T>G (p.Leu1208=)
c.3612T>G (p.Leu1204=)
c.3585T>G (p.Leu1195=)
c.3567T>G (p.Leu1189=)
n.3880T>G
6g.75914275G>ACA364762507MYO6c.3556G>A (p.Val1186Met)
c.3652G>A (p.Val1218Met)
c.3583G>A (p.Val1195Met)
c.3679G>A (p.Val1227Met)
c.*1663G>A (n.*1663G>A)
n.1818G>A
c.3682G>A (p.Val1228Met)
c.3640G>A (p.Val1214Met)
c.3625G>A (p.Val1209Met)
c.3613G>A (p.Val1205Met)
c.3586G>A (p.Val1196Met)
c.3568G>A (p.Val1190Met)
n.3881G>A
6g.75914275G>CCA364762508MYO6c.3556G>C (p.Val1186Leu)
c.3652G>C (p.Val1218Leu)
c.3583G>C (p.Val1195Leu)
c.3679G>C (p.Val1227Leu)
c.*1663G>C (n.*1663G>C)
n.1818G>C
c.3682G>C (p.Val1228Leu)
c.3640G>C (p.Val1214Leu)
c.3625G>C (p.Val1209Leu)
c.3613G>C (p.Val1205Leu)
c.3586G>C (p.Val1196Leu)
c.3568G>C (p.Val1190Leu)
n.3881G>C
6g.75914275G>TCA364762510MYO6c.3556G>T (p.Val1186Leu)
c.3652G>T (p.Val1218Leu)
c.3583G>T (p.Val1195Leu)
c.3679G>T (p.Val1227Leu)
c.*1663G>T (n.*1663G>T)
n.1818G>T
c.3682G>T (p.Val1228Leu)
c.3640G>T (p.Val1214Leu)
c.3625G>T (p.Val1209Leu)
c.3613G>T (p.Val1205Leu)
c.3586G>T (p.Val1196Leu)
c.3568G>T (p.Val1190Leu)
n.3881G>T
6g.75914276T>ACA364762512MYO6c.3557T>A (p.Val1186Glu)
c.3653T>A (p.Val1218Glu)
c.3584T>A (p.Val1195Glu)
c.3680T>A (p.Val1227Glu)
c.*1664T>A (n.*1664T>A)
n.1819T>A
c.3683T>A (p.Val1228Glu)
c.3641T>A (p.Val1214Glu)
c.3626T>A (p.Val1209Glu)
c.3614T>A (p.Val1205Glu)
c.3587T>A (p.Val1196Glu)
c.3569T>A (p.Val1190Glu)
n.3882T>A
6g.75914276T>CCA364762514MYO6c.3557T>C (p.Val1186Ala)
c.3653T>C (p.Val1218Ala)
c.3584T>C (p.Val1195Ala)
c.3680T>C (p.Val1227Ala)
c.*1664T>C (n.*1664T>C)
n.1819T>C
c.3683T>C (p.Val1228Ala)
c.3641T>C (p.Val1214Ala)
c.3626T>C (p.Val1209Ala)
c.3614T>C (p.Val1205Ala)
c.3587T>C (p.Val1196Ala)
c.3569T>C (p.Val1190Ala)
n.3882T>C
6g.75914276T>GCA364762516MYO6c.3557T>G (p.Val1186Gly)
c.3653T>G (p.Val1218Gly)
c.3584T>G (p.Val1195Gly)
c.3680T>G (p.Val1227Gly)
c.*1664T>G (n.*1664T>G)
n.1819T>G
c.3683T>G (p.Val1228Gly)
c.3641T>G (p.Val1214Gly)
c.3626T>G (p.Val1209Gly)
c.3614T>G (p.Val1205Gly)
c.3587T>G (p.Val1196Gly)
c.3569T>G (p.Val1190Gly)
n.3882T>G
6g.75914277G>ACA450938585MYO6c.3558G>A (p.Val1186=)
c.3654G>A (p.Val1218=)
c.3585G>A (p.Val1195=)
c.3681G>A (p.Val1227=)
c.*1665G>A (n.*1665G>A)
n.1820G>A
c.3684G>A (p.Val1228=)
c.3642G>A (p.Val1214=)
c.3627G>A (p.Val1209=)
c.3615G>A (p.Val1205=)
c.3588G>A (p.Val1196=)
c.3570G>A (p.Val1190=)
n.3883G>A
 gnomAD v4
6g.75914277G>CCA450938586MYO6c.3558G>C (p.Val1186=)
c.3654G>C (p.Val1218=)
c.3585G>C (p.Val1195=)
c.3681G>C (p.Val1227=)
c.*1665G>C (n.*1665G>C)
n.1820G>C
c.3684G>C (p.Val1228=)
c.3642G>C (p.Val1214=)
c.3627G>C (p.Val1209=)
c.3615G>C (p.Val1205=)
c.3588G>C (p.Val1196=)
c.3570G>C (p.Val1190=)
n.3883G>C
6g.75914277G>TCA450938587MYO6c.3558G>T (p.Val1186=)
c.3654G>T (p.Val1218=)
c.3585G>T (p.Val1195=)
c.3681G>T (p.Val1227=)
c.*1665G>T (n.*1665G>T)
n.1820G>T
c.3684G>T (p.Val1228=)
c.3642G>T (p.Val1214=)
c.3627G>T (p.Val1209=)
c.3615G>T (p.Val1205=)
c.3588G>T (p.Val1196=)
c.3570G>T (p.Val1190=)
n.3883G>T
 gnomAD v4

Number of alleles fetched