Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.75914179C>A | CA364761781 | MYO6 | c.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 |
6 | g.75914179C>G | CA364761786 | MYO6 | c.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 | |
6 | g.75914179C>T | CA364761794 | MYO6 | c.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 | |
6 | g.75914180A>C | CA364761804 | MYO6 | c.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 |
6 | g.75914180A>G | CA364761814 | MYO6 | c.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 |
6 | g.75914180A>T | CA364761817 | MYO6 | c.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 | |
6 | g.75914181G>A | CA450938534 | MYO6 | c.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 | |
6 | g.75914181G>C | CA364761827 | MYO6 | c.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 | |
6 | g.75914181G>T | CA364761829 | MYO6 | c.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 | |
6 | g.75914182A>C | CA364761831 | MYO6 | c.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 |
6 | g.75914182A>G | CA364761832 | MYO6 | c.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 | |
6 | g.75914182A>T | CA364761830 | MYO6 | c.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 | |
6 | g.75914183G>A | CA364761833 | MYO6 | c.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 | |
6 | g.75914183G>C | CA364761842 | MYO6 | c.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 | |
6 | g.75914183G>T | CA364761836 | MYO6 | c.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 | |
6 | g.75914184T>A | CA364761851 | MYO6 | c.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 | |
6 | g.75914184T>C | CA450938535 | MYO6 | c.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 | |
6 | g.75914184T>G | CA364761856 | MYO6 | c.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 | |
6 | g.75914185A>C | CA364761862 | MYO6 | c.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 | |
6 | g.75914185A>G | CA364761866 | MYO6 | c.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 | |
6 | g.75914185A>T | CA364761869 | MYO6 | c.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 | |
6 | g.75914186A>C | CA364761872 | MYO6 | c.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 | |
6 | g.75914186A>G | CA135633 | MYO6 | c.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 |
6 | g.75914186A>T | CA364761879 | MYO6 | c.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 | |
6 | g.75914187G>A | CA450938536 | MYO6 | c.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 | |
6 | g.75914187G>C | CA364761884 | MYO6 | c.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 | |
6 | g.75914187G>T | CA364761890 | MYO6 | c.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 | |
6 | g.75914188A>C | CA364761907 | MYO6 | c.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 |
6 | g.75914188A>G | CA3897763 | MYO6 | c.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 |
6 | g.75914188A>T | CA364761916 | MYO6 | c.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 | |
6 | g.75914189A>C | CA364761921 | MYO6 | c.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 |
6 | g.75914189A>G | CA364761918 | MYO6 | c.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 |
6 | g.75914189A>T | CA364761919 | MYO6 | c.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 |
6 | g.75914190A>C | CA364761924 | MYO6 | c.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 | |
6 | g.75914190A>G | CA450938538 | MYO6 | c.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 |
6 | g.75914190A>T | CA364761926 | MYO6 | c.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 | |
6 | g.75914191A>C | CA364761934 | MYO6 | c.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 | |
6 | g.75914191A>G | CA364761935 | MYO6 | c.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 | |
6 | g.75914191A>T | CA364761936 | MYO6 | c.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 | |
6 | g.75914192A>C | CA364761937 | MYO6 | c.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 | |
6 | g.75914192A>G | CA364761941 | MYO6 | c.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 | |
6 | g.75914192A>T | CA364761943 | MYO6 | c.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 | |
6 | g.75914193A>C | CA364761948 | MYO6 | c.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 | |
6 | g.75914193A>G | CA450938539 | MYO6 | c.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 | |
6 | g.75914193A>T | CA364761952 | MYO6 | c.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 | |
6 | g.75914194G>A | CA3897764 | MYO6 | c.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 |
6 | g.75914194G>C | CA364761954 | MYO6 | c.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 | |
6 | g.75914194G>T | CA364761953 | MYO6 | c.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 | |
6 | g.75914195G>A | CA364761956 | MYO6 | c.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 | |
6 | g.75914195G>C | CA364761959 | MYO6 | c.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 | |
6 | g.75914195G>T | CA364761962 | MYO6 | c.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 |
6 | g.75914196C>A | CA450938540 | MYO6 | c.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 | |
6 | g.75914196C>G | CA450938541 | MYO6 | c.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 | |
6 | g.75914196C>T | CA450938542 | MYO6 | c.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 | |
6 | g.75914197T>A | CA3897765 | MYO6 | c.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 |
6 | g.75914197T>C | CA364761963 | MYO6 | c.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 | |
6 | g.75914197T>G | CA364761964 | MYO6 | c.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 | |
6 | g.75914198G>A | CA364761967 | MYO6 | c.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 | |
6 | g.75914198G>C | CA364761968 | MYO6 | c.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 | |
6 | g.75914198G>T | CA364761969 | MYO6 | c.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 | |
6 | g.75914198_75914199dup | CA828153292 | MYO6 | c.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 |
6 | g.75914199G>A | CA364761970 | MYO6 | c.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 | |
6 | g.75914199G>C | CA364761971 | MYO6 | c.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 | |
6 | g.75914199G>T | CA364761972 | MYO6 | c.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 | |
6 | g.75914200T>A | CA364761975 | MYO6 | c.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 | |
6 | g.75914200T>C | CA364761973 | MYO6 | c.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 |
6 | g.75914200T>G | CA364761974 | MYO6 | c.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 | |
6 | g.75914201G>A | CA364761976 | MYO6 | c.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 | |
6 | g.75914201G>C | CA364761981 | MYO6 | c.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 |
6 | g.75914201G>T | CA364761982 | MYO6 | c.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 | |
6 | g.75914202G>A | CA364761984 | MYO6 | c.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 |
6 | g.75914202G>C | CA364761986 | MYO6 | c.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 | |
6 | g.75914202G>T | CA364761992 | MYO6 | c.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 | |
6 | g.75914203T>A | CA364761998 | MYO6 | c.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 | |
6 | g.75914203T>C | CA364762008 | MYO6 | c.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 |
6 | g.75914203T>G | CA364762010 | MYO6 | c.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 | |
6 | g.75914204A>C | CA364762012 | MYO6 | c.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 | |
6 | g.75914204A>G | CA364762013 | MYO6 | c.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 |
6 | g.75914204A>T | CA364762014 | MYO6 | c.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 | |
6 | g.75914205T>A | CA364762023 | MYO6 | c.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 | |
6 | g.75914205T>C | CA450938544 | MYO6 | c.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 |
6 | g.75914205T>G | CA364762019 | MYO6 | c.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 | |
6 | g.75914206G>A | CA364762027 | MYO6 | c.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 | |
6 | g.75914206G>C | CA364762029 | MYO6 | c.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 | |
6 | g.75914206G>T | CA364762028 | MYO6 | c.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 | |
6 | g.75914207C>A | CA364762031 | MYO6 | c.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 | |
6 | g.75914207C>G | CA364762034 | MYO6 | c.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 | |
6 | g.75914207C>T | CA364762037 | MYO6 | c.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 | |
6 | g.75914208C>A | CA450938545 | MYO6 | c.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 | |
6 | g.75914208C>G | CA450938546 | MYO6 | c.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 | |
6 | g.75914208C>T | CA450938547 | MYO6 | c.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 | |
6 | g.75914209C>A | CA364762039 | MYO6 | c.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 | |
6 | g.75914209C>G | CA364762042 | MYO6 | c.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 |
6 | g.75914209C>T | CA364762045 | MYO6 | c.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 | |
6 | g.75914210A>C | CA364762048 | MYO6 | c.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 | |
6 | g.75914210A>G | CA364762052 | MYO6 | c.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 | |
6 | g.75914210A>T | CA364762064 | MYO6 | c.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 | |
6 | g.75914211T>A | CA364762067 | MYO6 | c.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 | |
6 | g.75914211T>C | CA141060277 | MYO6 | c.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 |
6 | g.75914211T>G | CA364762070 | MYO6 | c.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 | |
6 | g.75914212T>A | CA364762081 | MYO6 | c.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 | |
6 | g.75914212T>C | CA364762074 | MYO6 | c.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 | |
6 | g.75914212T>G | CA364762077 | MYO6 | c.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 |
6 | g.75914213T>A | CA364762083 | MYO6 | c.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 | |
6 | g.75914213T>C | CA364762087 | MYO6 | c.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 | |
6 | g.75914213T>G | CA364762092 | MYO6 | c.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 | |
6 | g.75914214T>A | CA364762098 | MYO6 | c.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 | |
6 | g.75914214T>C | CA450938548 | MYO6 | c.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 |
6 | g.75914214T>G | CA364762100 | MYO6 | c.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 | |
6 | g.75914215G>A | CA364762101 | MYO6 | c.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 | |
6 | g.75914215G>C | CA364762104 | MYO6 | c.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 | |
6 | g.75914215G>T | CA364762108 | MYO6 | c.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 | |
6 | g.75914216A>C | CA364762115 | MYO6 | c.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 | |
6 | g.75914216A>G | CA364762119 | MYO6 | c.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 | |
6 | g.75914216A>T | CA364762123 | MYO6 | c.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 | |
6 | g.75914217T>A | CA364762130 | MYO6 | c.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 | |
6 | g.75914217T>C | CA450938549 | MYO6 | c.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 |
6 | g.75914217T>G | CA364762127 | MYO6 | c.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 | |
6 | g.75914218G>A | CA364762133 | MYO6 | c.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 | |
6 | g.75914218G>C | CA364762136 | MYO6 | c.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 | |
6 | g.75914218G>T | CA364762139 | MYO6 | c.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 | |
6 | g.75914219G>A | CA364762142 | MYO6 | c.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 | |
6 | g.75914219G>C | CA364762144 | MYO6 | c.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 | |
6 | g.75914219G>T | CA364762146 | MYO6 | c.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 | |
6 | g.75914220A>C | CA450938551 | MYO6 | c.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 | |
6 | g.75914220A>G | CA141060285 | MYO6 | c.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 |
6 | g.75914220A>T | CA3897766 | MYO6 | c.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 |
6 | g.75914221C>A | CA364762152 | MYO6 | c.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 | |
6 | g.75914221C>G | CA364762159 | MYO6 | c.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 |
6 | g.75914221C>T | CA364762162 | MYO6 | c.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 |
6 | g.75914222C>A | CA364762165 | MYO6 | c.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 | |
6 | g.75914222C>G | CA364762169 | MYO6 | c.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 | |
6 | g.75914222C>T | CA364762174 | MYO6 | c.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 |
6 | g.75914223A>C | CA450938552 | MYO6 | c.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 | |
6 | g.75914223A>G | CA450938553 | MYO6 | c.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 |
6 | g.75914223A>T | CA450938554 | MYO6 | c.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 | |
6 | g.75914224T>A | CA364762178 | MYO6 | c.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 | |
6 | g.75914224T>C | CA3897767 | MYO6 | c.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 |
6 | g.75914224T>G | CA364762177 | MYO6 | c.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 | |
6 | g.75914225G>A | CA364762180 | MYO6 | c.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 | |
6 | g.75914225G>C | CA364762184 | MYO6 | c.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 | |
6 | g.75914225G>T | CA364762188 | MYO6 | c.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 | |
6 | g.75914226G>A | CA364762192 | MYO6 | c.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 |
6 | g.75914226G>C | CA364762196 | MYO6 | c.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 | |
6 | g.75914226G>T | CA364762200 | MYO6 | c.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 |
6 | g.75914227A>C | CA364762202 | MYO6 | c.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 | |
6 | g.75914227A>G | CA364762205 | MYO6 | c.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 | |
6 | g.75914227A>T | CA364762209 | MYO6 | c.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 | |
6 | g.75914228T>A | CA364762211 | MYO6 | c.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 | |
6 | g.75914228T>C | CA364762212 | MYO6 | c.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 | |
6 | g.75914228T>G | CA364762217 | MYO6 | c.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 | |
6 | g.75914229T>A | CA450938555 | MYO6 | c.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 | |
6 | g.75914229T>C | CA450938556 | MYO6 | c.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 | |
6 | g.75914229T>G | CA364762220 | MYO6 | c.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 | |
6 | g.75914230G>A | CA364762224 | MYO6 | c.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 | |
6 | g.75914230G>C | CA364762226 | MYO6 | c.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 | |
6 | g.75914230G>T | CA3897768 | MYO6 | c.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 |
6 | g.75914231C>A | CA364762234 | MYO6 | c.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 | |
6 | g.75914231C>G | CA364762231 | MYO6 | c.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 | |
6 | g.75914231C>T | CA3897769 | MYO6 | c.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 |
6 | g.75914233_75914252del | CA2679456097 | MYO6 | c.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 |
6 | g.75914232C>A | CA450938557 | MYO6 | c.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 | |
6 | g.75914232C>G | CA450938558 | MYO6 | c.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 | |
6 | g.75914232C>T | CA450938559 | MYO6 | c.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 | |
6 | g.75914233C>A | CA450938560 | MYO6 | c.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 | |
6 | g.75914233C>G | CA364762237 | MYO6 | c.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 | |
6 | g.75914233C>T | CA10576709 | MYO6 | c.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 |
6 | g.75914234G>A | CA3897770 | MYO6 | c.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 |
6 | g.75914234G>C | CA364762238 | MYO6 | c.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 | |
6 | g.75914234G>T | CA364762239 | MYO6 | c.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 | |
6 | g.75914235G>A | CA450938563 | MYO6 | c.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 | |
6 | g.75914235G>C | CA450938562 | MYO6 | c.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 | |
6 | g.75914235G>T | CA450938561 | MYO6 | c.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 | |
6 | g.75914236C>A | CA364762242 | MYO6 | c.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 | |
6 | g.75914236C>G | CA364762244 | MYO6 | c.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 | |
6 | g.75914236C>T | CA364762246 | MYO6 | c.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 | |
6 | g.75914237A>C | CA364762262 | MYO6 | c.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 | |
6 | g.75914237A>G | CA364762270 | MYO6 | c.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 | |
6 | g.75914237A>T | CA364762272 | MYO6 | c.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 | |
6 | g.75914238A>C | CA364762274 | MYO6 | c.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 | |
6 | g.75914238A>G | CA3897771 | MYO6 | c.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 |
6 | g.75914238A>T | CA364762278 | MYO6 | c.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 | |
6 | g.75914239A>C | CA364762285 | MYO6 | c.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 | |
6 | g.75914239A>G | CA364762279 | MYO6 | c.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 |
6 | g.75914239A>T | CA364762282 | MYO6 | c.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 | |
6 | g.75914240T>A | CA364762288 | MYO6 | c.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 | |
6 | g.75914240T>C | CA364762292 | MYO6 | c.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 | |
6 | g.75914240T>G | CA364762299 | MYO6 | c.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 | |
6 | g.75914241G>A | CA364762300 | MYO6 | c.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 | |
6 | g.75914241G>C | CA364762301 | MYO6 | c.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 | |
6 | g.75914241G>T | CA364762302 | MYO6 | c.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 | |
6 | g.75914242G>A | CA364762304 | MYO6 | c.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 | |
6 | g.75914242G>C | CA364762306 | MYO6 | c.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 | |
6 | g.75914242G>T | CA364762307 | MYO6 | c.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 | |
6 | g.75914243A>C | CA364762308 | MYO6 | c.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 | |
6 | g.75914243A>G | CA364762309 | MYO6 | c.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 | |
6 | g.75914243A>T | CA364762310 | MYO6 | c.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 | |
6 | g.75914244A>C | CA364762313 | MYO6 | c.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 | |
6 | g.75914244A>G | CA450938564 | MYO6 | c.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 |
6 | g.75914244A>T | CA364762312 | MYO6 | c.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 | |
6 | g.75914246_75914263del | CA2573052743 | MYO6 | c.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 |
6 | g.75914245C>A | CA364762316 | MYO6 | c.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 | |
6 | g.75914245C>G | CA364762318 | MYO6 | c.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 |
6 | g.75914245C>T | CA364762320 | MYO6 | c.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 | |
6 | g.75914246T>A | CA364762324 | MYO6 | c.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 | |
6 | g.75914246T>C | CA364762329 | MYO6 | c.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 | |
6 | g.75914246T>G | CA364762331 | MYO6 | c.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 | |
6 | g.75914247C>A | CA450938565 | MYO6 | c.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 | |
6 | g.75914247C>G | CA450938566 | MYO6 | c.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 |
6 | g.75914247C>T | CA450938567 | MYO6 | c.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 | |
6 | g.75914248C>A | CA364762338 | MYO6 | c.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 | |
6 | g.75914248C>G | CA364762334 | MYO6 | c.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 | |
6 | g.75914248C>T | CA364762336 | MYO6 | c.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 | |
6 | g.75914249A>C | CA364762340 | MYO6 | c.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 | |
6 | g.75914249A>G | CA364762342 | MYO6 | c.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 |
6 | g.75914249A>T | CA364762345 | MYO6 | c.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 |
6 | g.75914250T>A | CA364762349 | MYO6 | c.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 | |
6 | g.75914250T>C | CA450938568 | MYO6 | c.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 | |
6 | g.75914250T>G | CA364762352 | MYO6 | c.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 | |
6 | g.75914251C>A | CA364762358 | MYO6 | c.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 | |
6 | g.75914251C>G | CA364762361 | MYO6 | c.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 | |
6 | g.75914251C>T | CA364762359 | MYO6 | c.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 |
6 | g.75914252C>A | CA364762365 | MYO6 | c.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 | |
6 | g.75914252C>G | CA364762367 | MYO6 | c.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 | |
6 | g.75914252C>T | CA364762369 | MYO6 | c.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 | |
6 | g.75914253T>A | CA450938569 | MYO6 | c.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 | |
6 | g.75914253T>C | CA450938570 | MYO6 | c.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 | |
6 | g.75914253T>G | CA450938571 | MYO6 | c.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 | |
6 | g.75914254G>A | CA364762372 | MYO6 | c.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 |
6 | g.75914254G>C | CA364762374 | MYO6 | c.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 | |
6 | g.75914254G>T | CA364762378 | MYO6 | c.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 | |
6 | g.75914255A>C | CA364762382 | MYO6 | c.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 | |
6 | g.75914255A>G | CA364762386 | MYO6 | c.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 | |
6 | g.75914255A>T | CA364762388 | MYO6 | c.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 | |
6 | g.75914256C>A | CA364762391 | MYO6 | c.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 |
6 | g.75914256C>G | CA364762393 | MYO6 | c.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 |
6 | g.75914256C>T | CA450938572 | MYO6 | c.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 | |
6 | g.75914257A>C | CA364762402 | MYO6 | c.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 | |
6 | g.75914257A>G | CA364762400 | MYO6 | c.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 | |
6 | g.75914257A>T | CA364762397 | MYO6 | c.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 | |
6 | g.75914258A>C | CA364762406 | MYO6 | c.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 | |
6 | g.75914258A>G | CA364762409 | MYO6 | c.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 | |
6 | g.75914258A>T | CA364762412 | MYO6 | c.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 | |
6 | g.75914259G>A | CA450938573 | MYO6 | c.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 |
6 | g.75914259G>C | CA364762415 | MYO6 | c.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 | |
6 | g.75914259G>T | CA364762418 | MYO6 | c.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 | |
6 | g.75914260C>A | CA364762421 | MYO6 | c.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 | |
6 | g.75914260C>G | CA364762422 | MYO6 | c.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 | |
6 | g.75914260C>T | CA3897772 | MYO6 | c.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 |
6 | g.75914261C>A | CA364762424 | MYO6 | c.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 | |
6 | g.75914261C>G | CA364762428 | MYO6 | c.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 | |
6 | g.75914261C>T | CA364762426 | MYO6 | c.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 |
6 | g.75914262A>C | CA450938575 | MYO6 | c.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 | |
6 | g.75914262A>G | CA3897773 | MYO6 | c.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 |
6 | g.75914262A>T | CA450938574 | MYO6 | c.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 | |
6 | g.75914263C>A | CA364762431 | MYO6 | c.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 | |
6 | g.75914263C>G | CA364762438 | MYO6 | c.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 |
6 | g.75914263C>T | CA3897774 | MYO6 | c.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 |
6 | g.75914264C>A | CA364762444 | MYO6 | c.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 | |
6 | g.75914264C>G | CA364762448 | MYO6 | c.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 | |
6 | g.75914264C>T | CA364762447 | MYO6 | c.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 |
6 | g.75914265C>A | CA450938576 | MYO6 | c.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 |
6 | g.75914265C>G | CA450938577 | MYO6 | c.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 | |
6 | g.75914265C>T | CA450938578 | MYO6 | c.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 |
6 | g.75914266A>C | CA364762452 | MYO6 | c.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 | |
6 | g.75914266A>G | CA364762454 | MYO6 | c.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 |
6 | g.75914266A>T | CA364762461 | MYO6 | c.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 | |
6 | g.75914267T>A | CA364762466 | MYO6 | c.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 | |
6 | g.75914267T>C | CA364762468 | MYO6 | c.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 |
6 | g.75914267T>G | CA364762471 | MYO6 | c.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 | |
6 | g.75914268_75914285del | CA3897775 | MYO6 | c.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 |
6 | g.75914268C>A | CA3897776 | MYO6 | c.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 |
6 | g.75914268C>G | CA364762476 | MYO6 | c.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 | |
6 | g.75914268C>T | CA141060388 | MYO6 | c.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 |
6 | g.75914269C>A | CA364762485 | MYO6 | c.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 | |
6 | g.75914269C>G | CA10576710 | MYO6 | c.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 |
6 | g.75914269C>T | CA450938579 | MYO6 | c.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 | |
6 | g.75914270T>A | CA364762487 | MYO6 | c.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 |
6 | g.75914270T>C | CA364762492 | MYO6 | c.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 |
6 | g.75914270T>G | CA364762489 | MYO6 | c.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 | |
6 | g.75914271A>C | CA450938580 | MYO6 | c.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 |
6 | g.75914271A>G | CA450938581 | MYO6 | c.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 |
6 | g.75914271A>T | CA450938582 | MYO6 | c.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 |
6 | g.75914272C>A | CA364762495 | MYO6 | c.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 | |
6 | g.75914272C>G | CA364762497 | MYO6 | c.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 | |
6 | g.75914272C>T | CA364762498 | MYO6 | c.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 |
6 | g.75914273T>A | CA364762502 | MYO6 | c.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 | |
6 | g.75914273T>C | CA364762504 | MYO6 | c.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 | |
6 | g.75914273T>G | CA364762506 | MYO6 | c.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 | |
6 | g.75914274T>A | CA450938583 | MYO6 | c.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 | |
6 | g.75914274T>C | CA3897777 | MYO6 | c.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 |
6 | g.75914274T>G | CA450938584 | MYO6 | c.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 | |
6 | g.75914275G>A | CA364762507 | MYO6 | c.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 | |
6 | g.75914275G>C | CA364762508 | MYO6 | c.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 | |
6 | g.75914275G>T | CA364762510 | MYO6 | c.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 | |
6 | g.75914276T>A | CA364762512 | MYO6 | c.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 | |
6 | g.75914276T>C | CA364762514 | MYO6 | c.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 | |
6 | g.75914276T>G | CA364762516 | MYO6 | c.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 | |
6 | g.75914277G>A | CA450938585 | MYO6 | c.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 |
6 | g.75914277G>C | CA450938586 | MYO6 | c.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 | |
6 | g.75914277G>T | CA450938587 | MYO6 | c.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 |
6 | g.75914278G>A | CA364762523 | MYO6 | c.3559G>A (p.Ala1187Thr) c.3655G>A (p.Ala1219Thr) c.3586G>A (p.Ala1196Thr) c.3682G>A (p.Ala1228Thr) c.*1666G>A (n.*1666G>A) n.1821G>A c.3685G>A (p.Ala1229Thr) c.3643G>A (p.Ala1215Thr) c.3628G>A (p.Ala1210Thr) c.3616G>A (p.Ala1206Thr) c.3589G>A (p.Ala1197Thr) c.3571G>A (p.Ala1191Thr) n.3884G>A | gnomAD v4 |
6 | g.75914278G>C | CA364762519 | MYO6 | c.3559G>C (p.Ala1187Pro) c.3655G>C (p.Ala1219Pro) c.3586G>C (p.Ala1196Pro) c.3682G>C (p.Ala1228Pro) c.*1666G>C (n.*1666G>C) n.1821G>C c.3685G>C (p.Ala1229Pro) c.3643G>C (p.Ala1215Pro) c.3628G>C (p.Ala1210Pro) c.3616G>C (p.Ala1206Pro) c.3589G>C (p.Ala1197Pro) c.3571G>C (p.Ala1191Pro) n.3884G>C | |
6 | g.75914278G>T | CA364762521 | MYO6 | c.3559G>T (p.Ala1187Ser) c.3655G>T (p.Ala1219Ser) c.3586G>T (p.Ala1196Ser) c.3682G>T (p.Ala1228Ser) c.*1666G>T (n.*1666G>T) n.1821G>T c.3685G>T (p.Ala1229Ser) c.3643G>T (p.Ala1215Ser) c.3628G>T (p.Ala1210Ser) c.3616G>T (p.Ala1206Ser) c.3589G>T (p.Ala1197Ser) c.3571G>T (p.Ala1191Ser) n.3884G>T | |
6 | g.75914278_75914279del | CA2771760082 | MYO6 | c.3559_3560del (p.Ala1187TrpfsTer2) c.3655_3656del (p.Ala1219TrpfsTer2) c.3586_3587del (p.Ala1196TrpfsTer2) c.3682_3683del (p.Ala1228TrpfsTer2) c.*1666_*1667del (n.*1666_*1667del) n.1821_1822del c.3685_3686del (p.Ala1229TrpfsTer2) c.3643_3644del (p.Ala1215TrpfsTer2) c.3628_3629del (p.Ala1210TrpfsTer2) c.3616_3617del (p.Ala1206TrpfsTer2) c.3589_3590del (p.Ala1197TrpfsTer2) c.3571_3572del (p.Ala1191TrpfsTer2) n.3884_3885del | |
6 | g.75914279C>A | CA364762525 | MYO6 | c.3560C>A (p.Ala1187Asp) c.3656C>A (p.Ala1219Asp) c.3587C>A (p.Ala1196Asp) c.3683C>A (p.Ala1228Asp) c.*1667C>A (n.*1667C>A) n.1822C>A c.3686C>A (p.Ala1229Asp) c.3644C>A (p.Ala1215Asp) c.3629C>A (p.Ala1210Asp) c.3617C>A (p.Ala1206Asp) c.3590C>A (p.Ala1197Asp) c.3572C>A (p.Ala1191Asp) n.3885C>A | |
6 | g.75914279C>G | CA364762527 | MYO6 | c.3560C>G (p.Ala1187Gly) c.3656C>G (p.Ala1219Gly) c.3587C>G (p.Ala1196Gly) c.3683C>G (p.Ala1228Gly) c.*1667C>G (n.*1667C>G) n.1822C>G c.3686C>G (p.Ala1229Gly) c.3644C>G (p.Ala1215Gly) c.3629C>G (p.Ala1210Gly) c.3617C>G (p.Ala1206Gly) c.3590C>G (p.Ala1197Gly) c.3572C>G (p.Ala1191Gly) n.3885C>G | |
6 | g.75914279C>T | CA364762528 | MYO6 | c.3560C>T (p.Ala1187Val) c.3656C>T (p.Ala1219Val) c.3587C>T (p.Ala1196Val) c.3683C>T (p.Ala1228Val) c.*1667C>T (n.*1667C>T) n.1822C>T c.3686C>T (p.Ala1229Val) c.3644C>T (p.Ala1215Val) c.3629C>T (p.Ala1210Val) c.3617C>T (p.Ala1206Val) c.3590C>T (p.Ala1197Val) c.3572C>T (p.Ala1191Val) n.3885C>T |