Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.75914110G>A | CA364761288 | MYO6 | c.3391G>A (p.Glu1131Lys) c.3487G>A (p.Glu1163Lys) c.3418G>A (p.Glu1140Lys) c.3514G>A (p.Glu1172Lys) c.*1498G>A (n.*1498G>A) n.1653G>A c.3517G>A (p.Glu1173Lys) c.3475G>A (p.Glu1159Lys) c.3460G>A (p.Glu1154Lys) c.3448G>A (p.Glu1150Lys) c.3421G>A (p.Glu1141Lys) c.3403G>A (p.Glu1135Lys) n.3716G>A | COSMIC |
6 | g.75914110G>C | CA364761289 | MYO6 | c.3391G>C (p.Glu1131Gln) c.3487G>C (p.Glu1163Gln) c.3418G>C (p.Glu1140Gln) c.3514G>C (p.Glu1172Gln) c.*1498G>C (n.*1498G>C) n.1653G>C c.3517G>C (p.Glu1173Gln) c.3475G>C (p.Glu1159Gln) c.3460G>C (p.Glu1154Gln) c.3448G>C (p.Glu1150Gln) c.3421G>C (p.Glu1141Gln) c.3403G>C (p.Glu1135Gln) n.3716G>C | |
6 | g.75914110G>T | CA364761291 | MYO6 | c.3391G>T (p.Glu1131Ter) c.3487G>T (p.Glu1163Ter) c.3418G>T (p.Glu1140Ter) c.3514G>T (p.Glu1172Ter) c.*1498G>T (n.*1498G>T) n.1653G>T c.3517G>T (p.Glu1173Ter) c.3475G>T (p.Glu1159Ter) c.3460G>T (p.Glu1154Ter) c.3448G>T (p.Glu1150Ter) c.3421G>T (p.Glu1141Ter) c.3403G>T (p.Glu1135Ter) n.3716G>T | |
6 | g.75914111A>C | CA364761312 | MYO6 | c.3392A>C (p.Glu1131Ala) c.3488A>C (p.Glu1163Ala) c.3419A>C (p.Glu1140Ala) c.3515A>C (p.Glu1172Ala) c.*1499A>C (n.*1499A>C) n.1654A>C c.3518A>C (p.Glu1173Ala) c.3476A>C (p.Glu1159Ala) c.3461A>C (p.Glu1154Ala) c.3449A>C (p.Glu1150Ala) c.3422A>C (p.Glu1141Ala) c.3404A>C (p.Glu1135Ala) n.3717A>C | |
6 | g.75914111A>G | CA364761304 | MYO6 | c.3392A>G (p.Glu1131Gly) c.3488A>G (p.Glu1163Gly) c.3419A>G (p.Glu1140Gly) c.3515A>G (p.Glu1172Gly) c.*1499A>G (n.*1499A>G) n.1654A>G c.3518A>G (p.Glu1173Gly) c.3476A>G (p.Glu1159Gly) c.3461A>G (p.Glu1154Gly) c.3449A>G (p.Glu1150Gly) c.3422A>G (p.Glu1141Gly) c.3404A>G (p.Glu1135Gly) n.3717A>G | |
6 | g.75914111A>T | CA364761292 | MYO6 | c.3392A>T (p.Glu1131Val) c.3488A>T (p.Glu1163Val) c.3419A>T (p.Glu1140Val) c.3515A>T (p.Glu1172Val) c.*1499A>T (n.*1499A>T) n.1654A>T c.3518A>T (p.Glu1173Val) c.3476A>T (p.Glu1159Val) c.3461A>T (p.Glu1154Val) c.3449A>T (p.Glu1150Val) c.3422A>T (p.Glu1141Val) c.3404A>T (p.Glu1135Val) n.3717A>T | |
6 | g.75914112A>C | CA364761317 | MYO6 | c.3393A>C (p.Glu1131Asp) c.3489A>C (p.Glu1163Asp) c.3420A>C (p.Glu1140Asp) c.3516A>C (p.Glu1172Asp) c.*1500A>C (n.*1500A>C) n.1655A>C c.3519A>C (p.Glu1173Asp) c.3477A>C (p.Glu1159Asp) c.3462A>C (p.Glu1154Asp) c.3450A>C (p.Glu1150Asp) c.3423A>C (p.Glu1141Asp) c.3405A>C (p.Glu1135Asp) n.3718A>C | |
6 | g.75914112A>G | CA450938492 | MYO6 | c.3393A>G (p.Glu1131=) c.3489A>G (p.Glu1163=) c.3420A>G (p.Glu1140=) c.3516A>G (p.Glu1172=) c.*1500A>G (n.*1500A>G) n.1655A>G c.3519A>G (p.Glu1173=) c.3477A>G (p.Glu1159=) c.3462A>G (p.Glu1154=) c.3450A>G (p.Glu1150=) c.3423A>G (p.Glu1141=) c.3405A>G (p.Glu1135=) n.3718A>G | |
6 | g.75914112A>T | CA364761322 | MYO6 | c.3393A>T (p.Glu1131Asp) c.3489A>T (p.Glu1163Asp) c.3420A>T (p.Glu1140Asp) c.3516A>T (p.Glu1172Asp) c.*1500A>T (n.*1500A>T) n.1655A>T c.3519A>T (p.Glu1173Asp) c.3477A>T (p.Glu1159Asp) c.3462A>T (p.Glu1154Asp) c.3450A>T (p.Glu1150Asp) c.3423A>T (p.Glu1141Asp) c.3405A>T (p.Glu1135Asp) n.3718A>T | |
6 | g.75914113A>C | CA364761325 | MYO6 | c.3394A>C (p.Met1132Leu) c.3490A>C (p.Met1164Leu) c.3421A>C (p.Met1141Leu) c.3517A>C (p.Met1173Leu) c.*1501A>C (n.*1501A>C) n.1656A>C c.3520A>C (p.Met1174Leu) c.3478A>C (p.Met1160Leu) c.3463A>C (p.Met1155Leu) c.3451A>C (p.Met1151Leu) c.3424A>C (p.Met1142Leu) c.3406A>C (p.Met1136Leu) n.3719A>C | |
6 | g.75914113A>G | CA364761327 | MYO6 | c.3394A>G (p.Met1132Val) c.3490A>G (p.Met1164Val) c.3421A>G (p.Met1141Val) c.3517A>G (p.Met1173Val) c.*1501A>G (n.*1501A>G) n.1656A>G c.3520A>G (p.Met1174Val) c.3478A>G (p.Met1160Val) c.3463A>G (p.Met1155Val) c.3451A>G (p.Met1151Val) c.3424A>G (p.Met1142Val) c.3406A>G (p.Met1136Val) n.3719A>G | gnomAD v4 |
6 | g.75914113A>T | CA364761328 | MYO6 | c.3394A>T (p.Met1132Leu) c.3490A>T (p.Met1164Leu) c.3421A>T (p.Met1141Leu) c.3517A>T (p.Met1173Leu) c.*1501A>T (n.*1501A>T) n.1656A>T c.3520A>T (p.Met1174Leu) c.3478A>T (p.Met1160Leu) c.3463A>T (p.Met1155Leu) c.3451A>T (p.Met1151Leu) c.3424A>T (p.Met1142Leu) c.3406A>T (p.Met1136Leu) n.3719A>T | |
6 | g.75914114T>A | CA364761332 | MYO6 | c.3395T>A (p.Met1132Lys) c.3491T>A (p.Met1164Lys) c.3422T>A (p.Met1141Lys) c.3518T>A (p.Met1173Lys) c.*1502T>A (n.*1502T>A) n.1657T>A c.3521T>A (p.Met1174Lys) c.3479T>A (p.Met1160Lys) c.3464T>A (p.Met1155Lys) c.3452T>A (p.Met1151Lys) c.3425T>A (p.Met1142Lys) c.3407T>A (p.Met1136Lys) n.3720T>A | |
6 | g.75914114T>C | CA364761336 | MYO6 | c.3395T>C (p.Met1132Thr) c.3491T>C (p.Met1164Thr) c.3422T>C (p.Met1141Thr) c.3518T>C (p.Met1173Thr) c.*1502T>C (n.*1502T>C) n.1657T>C c.3521T>C (p.Met1174Thr) c.3479T>C (p.Met1160Thr) c.3464T>C (p.Met1155Thr) c.3452T>C (p.Met1151Thr) c.3425T>C (p.Met1142Thr) c.3407T>C (p.Met1136Thr) n.3720T>C | |
6 | g.75914114T>G | CA364761338 | MYO6 | c.3395T>G (p.Met1132Arg) c.3491T>G (p.Met1164Arg) c.3422T>G (p.Met1141Arg) c.3518T>G (p.Met1173Arg) c.*1502T>G (n.*1502T>G) n.1657T>G c.3521T>G (p.Met1174Arg) c.3479T>G (p.Met1160Arg) c.3464T>G (p.Met1155Arg) c.3452T>G (p.Met1151Arg) c.3425T>G (p.Met1142Arg) c.3407T>G (p.Met1136Arg) n.3720T>G | gnomAD v4 |
6 | g.75914115G>A | CA364761343 | MYO6 | c.3396G>A (p.Met1132Ile) c.3492G>A (p.Met1164Ile) c.3423G>A (p.Met1141Ile) c.3519G>A (p.Met1173Ile) c.*1503G>A (n.*1503G>A) n.1658G>A c.3522G>A (p.Met1174Ile) c.3480G>A (p.Met1160Ile) c.3465G>A (p.Met1155Ile) c.3453G>A (p.Met1151Ile) c.3426G>A (p.Met1142Ile) c.3408G>A (p.Met1136Ile) n.3721G>A | COSMIC COSMIC |
6 | g.75914115G>C | CA364761345 | MYO6 | c.3396G>C (p.Met1132Ile) c.3492G>C (p.Met1164Ile) c.3423G>C (p.Met1141Ile) c.3519G>C (p.Met1173Ile) c.*1503G>C (n.*1503G>C) n.1658G>C c.3522G>C (p.Met1174Ile) c.3480G>C (p.Met1160Ile) c.3465G>C (p.Met1155Ile) c.3453G>C (p.Met1151Ile) c.3426G>C (p.Met1142Ile) c.3408G>C (p.Met1136Ile) n.3721G>C | |
6 | g.75914115G>T | CA364761350 | MYO6 | c.3396G>T (p.Met1132Ile) c.3492G>T (p.Met1164Ile) c.3423G>T (p.Met1141Ile) c.3519G>T (p.Met1173Ile) c.*1503G>T (n.*1503G>T) n.1658G>T c.3522G>T (p.Met1174Ile) c.3480G>T (p.Met1160Ile) c.3465G>T (p.Met1155Ile) c.3453G>T (p.Met1151Ile) c.3426G>T (p.Met1142Ile) c.3408G>T (p.Met1136Ile) n.3721G>T | |
6 | g.75914116A>C | CA364761354 | MYO6 | c.3397A>C (p.Asn1133His) c.3493A>C (p.Asn1165His) c.3424A>C (p.Asn1142His) c.3520A>C (p.Asn1174His) c.*1504A>C (n.*1504A>C) n.1659A>C c.3523A>C (p.Asn1175His) c.3481A>C (p.Asn1161His) c.3466A>C (p.Asn1156His) c.3454A>C (p.Asn1152His) c.3427A>C (p.Asn1143His) c.3409A>C (p.Asn1137His) n.3722A>C | |
6 | g.75914116A>G | CA364761356 | MYO6 | c.3397A>G (p.Asn1133Asp) c.3493A>G (p.Asn1165Asp) c.3424A>G (p.Asn1142Asp) c.3520A>G (p.Asn1174Asp) c.*1504A>G (n.*1504A>G) n.1659A>G c.3523A>G (p.Asn1175Asp) c.3481A>G (p.Asn1161Asp) c.3466A>G (p.Asn1156Asp) c.3454A>G (p.Asn1152Asp) c.3427A>G (p.Asn1143Asp) c.3409A>G (p.Asn1137Asp) n.3722A>G | |
6 | g.75914116A>T | CA364761357 | MYO6 | c.3397A>T (p.Asn1133Tyr) c.3493A>T (p.Asn1165Tyr) c.3424A>T (p.Asn1142Tyr) c.3520A>T (p.Asn1174Tyr) c.*1504A>T (n.*1504A>T) n.1659A>T c.3523A>T (p.Asn1175Tyr) c.3481A>T (p.Asn1161Tyr) c.3466A>T (p.Asn1156Tyr) c.3454A>T (p.Asn1152Tyr) c.3427A>T (p.Asn1143Tyr) c.3409A>T (p.Asn1137Tyr) n.3722A>T | |
6 | g.75914117A>C | CA364761363 | MYO6 | c.3398A>C (p.Asn1133Thr) c.3494A>C (p.Asn1165Thr) c.3425A>C (p.Asn1142Thr) c.3521A>C (p.Asn1174Thr) c.*1505A>C (n.*1505A>C) n.1660A>C c.3524A>C (p.Asn1175Thr) c.3482A>C (p.Asn1161Thr) c.3467A>C (p.Asn1156Thr) c.3455A>C (p.Asn1152Thr) c.3428A>C (p.Asn1143Thr) c.3410A>C (p.Asn1137Thr) n.3723A>C | |
6 | g.75914117A>G | CA364761369 | MYO6 | c.3398A>G (p.Asn1133Ser) c.3494A>G (p.Asn1165Ser) c.3425A>G (p.Asn1142Ser) c.3521A>G (p.Asn1174Ser) c.*1505A>G (n.*1505A>G) n.1660A>G c.3524A>G (p.Asn1175Ser) c.3482A>G (p.Asn1161Ser) c.3467A>G (p.Asn1156Ser) c.3455A>G (p.Asn1152Ser) c.3428A>G (p.Asn1143Ser) c.3410A>G (p.Asn1137Ser) n.3723A>G | |
6 | g.75914117A>T | CA364761360 | MYO6 | c.3398A>T (p.Asn1133Ile) c.3494A>T (p.Asn1165Ile) c.3425A>T (p.Asn1142Ile) c.3521A>T (p.Asn1174Ile) c.*1505A>T (n.*1505A>T) n.1660A>T c.3524A>T (p.Asn1175Ile) c.3482A>T (p.Asn1161Ile) c.3467A>T (p.Asn1156Ile) c.3455A>T (p.Asn1152Ile) c.3428A>T (p.Asn1143Ile) c.3410A>T (p.Asn1137Ile) n.3723A>T | |
6 | g.75914118C>A | CA364761373 | MYO6 | c.3399C>A (p.Asn1133Lys) c.3495C>A (p.Asn1165Lys) c.3426C>A (p.Asn1142Lys) c.3522C>A (p.Asn1174Lys) c.*1506C>A (n.*1506C>A) n.1661C>A c.3525C>A (p.Asn1175Lys) c.3483C>A (p.Asn1161Lys) c.3468C>A (p.Asn1156Lys) c.3456C>A (p.Asn1152Lys) c.3429C>A (p.Asn1143Lys) c.3411C>A (p.Asn1137Lys) n.3724C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.75914118C>G | CA364761375 | MYO6 | c.3399C>G (p.Asn1133Lys) c.3495C>G (p.Asn1165Lys) c.3426C>G (p.Asn1142Lys) c.3522C>G (p.Asn1174Lys) c.*1506C>G (n.*1506C>G) n.1661C>G c.3525C>G (p.Asn1175Lys) c.3483C>G (p.Asn1161Lys) c.3468C>G (p.Asn1156Lys) c.3456C>G (p.Asn1152Lys) c.3429C>G (p.Asn1143Lys) c.3411C>G (p.Asn1137Lys) n.3724C>G | |
6 | g.75914118C>T | CA450938499 | MYO6 | c.3399C>T (p.Asn1133=) c.3495C>T (p.Asn1165=) c.3426C>T (p.Asn1142=) c.3522C>T (p.Asn1174=) c.*1506C>T (n.*1506C>T) n.1661C>T c.3525C>T (p.Asn1175=) c.3483C>T (p.Asn1161=) c.3468C>T (p.Asn1156=) c.3456C>T (p.Asn1152=) c.3429C>T (p.Asn1143=) c.3411C>T (p.Asn1137=) n.3724C>T | |
6 | g.75914119C>A | CA450938500 | MYO6 | c.3400C>A (p.Arg1134=) c.3496C>A (p.Arg1166=) c.3427C>A (p.Arg1143=) c.3523C>A (p.Arg1175=) c.*1507C>A (n.*1507C>A) n.1662C>A c.3526C>A (p.Arg1176=) c.3484C>A (p.Arg1162=) c.3469C>A (p.Arg1157=) c.3457C>A (p.Arg1153=) c.3430C>A (p.Arg1144=) c.3412C>A (p.Arg1138=) n.3725C>A | |
6 | g.75914119C>G | CA364761378 | MYO6 | c.3400C>G (p.Arg1134Gly) c.3496C>G (p.Arg1166Gly) c.3427C>G (p.Arg1143Gly) c.3523C>G (p.Arg1175Gly) c.*1507C>G (n.*1507C>G) n.1662C>G c.3526C>G (p.Arg1176Gly) c.3484C>G (p.Arg1162Gly) c.3469C>G (p.Arg1157Gly) c.3457C>G (p.Arg1153Gly) c.3430C>G (p.Arg1144Gly) c.3412C>G (p.Arg1138Gly) n.3725C>G | |
6 | g.75914119C>T | CA254505 | MYO6 | c.3400C>T (p.Arg1134Ter) c.3496C>T (p.Arg1166Ter) c.3427C>T (p.Arg1143Ter) c.3523C>T (p.Arg1175Ter) c.*1507C>T (n.*1507C>T) n.1662C>T c.3526C>T (p.Arg1176Ter) c.3484C>T (p.Arg1162Ter) c.3469C>T (p.Arg1157Ter) c.3457C>T (p.Arg1153Ter) c.3430C>T (p.Arg1144Ter) c.3412C>T (p.Arg1138Ter) n.3725C>T | ClinVar dbSNP gnomAD v4 |
6 | g.75914121_75914129del | CA568152449 | MYO6 | c.3402_3410del (p.Gln1135_Arg1137del) c.3498_3506del (p.Gln1167_Arg1169del) c.3429_3437del (p.Gln1144_Arg1146del) c.3525_3533del (p.Gln1176_Arg1178del) c.*1509_*1517del (n.*1509_*1517del) n.1664_1672del c.3528_3536del (p.Gln1177_Arg1179del) c.3486_3494del (p.Gln1163_Arg1165del) c.3471_3479del (p.Gln1158_Arg1160del) c.3459_3467del (p.Gln1154_Arg1156del) c.3432_3440del (p.Gln1145_Arg1147del) c.3414_3422del (p.Gln1139_Arg1141del) n.3727_3735del | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914120G>A | CA3897743 | MYO6 | c.3401G>A (p.Arg1134Gln) c.3497G>A (p.Arg1166Gln) c.3428G>A (p.Arg1143Gln) c.3524G>A (p.Arg1175Gln) c.*1508G>A (n.*1508G>A) n.1663G>A c.3527G>A (p.Arg1176Gln) c.3485G>A (p.Arg1162Gln) c.3470G>A (p.Arg1157Gln) c.3458G>A (p.Arg1153Gln) c.3431G>A (p.Arg1144Gln) c.3413G>A (p.Arg1138Gln) n.3726G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914120G>C | CA364761386 | MYO6 | c.3401G>C (p.Arg1134Pro) c.3497G>C (p.Arg1166Pro) c.3428G>C (p.Arg1143Pro) c.3524G>C (p.Arg1175Pro) c.*1508G>C (n.*1508G>C) n.1663G>C c.3527G>C (p.Arg1176Pro) c.3485G>C (p.Arg1162Pro) c.3470G>C (p.Arg1157Pro) c.3458G>C (p.Arg1153Pro) c.3431G>C (p.Arg1144Pro) c.3413G>C (p.Arg1138Pro) n.3726G>C | |
6 | g.75914120G>T | CA3897744 | MYO6 | c.3401G>T (p.Arg1134Leu) c.3497G>T (p.Arg1166Leu) c.3428G>T (p.Arg1143Leu) c.3524G>T (p.Arg1175Leu) c.*1508G>T (n.*1508G>T) n.1663G>T c.3527G>T (p.Arg1176Leu) c.3485G>T (p.Arg1162Leu) c.3470G>T (p.Arg1157Leu) c.3458G>T (p.Arg1153Leu) c.3431G>T (p.Arg1144Leu) c.3413G>T (p.Arg1138Leu) n.3726G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.75914121A>C | CA450938503 | MYO6 | c.3402A>C (p.Arg1134=) c.3498A>C (p.Arg1166=) c.3429A>C (p.Arg1143=) c.3525A>C (p.Arg1175=) c.*1509A>C (n.*1509A>C) n.1664A>C c.3528A>C (p.Arg1176=) c.3486A>C (p.Arg1162=) c.3471A>C (p.Arg1157=) c.3459A>C (p.Arg1153=) c.3432A>C (p.Arg1144=) c.3414A>C (p.Arg1138=) n.3727A>C | |
6 | g.75914121A>G | CA450938501 | MYO6 | c.3402A>G (p.Arg1134=) c.3498A>G (p.Arg1166=) c.3429A>G (p.Arg1143=) c.3525A>G (p.Arg1175=) c.*1509A>G (n.*1509A>G) n.1664A>G c.3528A>G (p.Arg1176=) c.3486A>G (p.Arg1162=) c.3471A>G (p.Arg1157=) c.3459A>G (p.Arg1153=) c.3432A>G (p.Arg1144=) c.3414A>G (p.Arg1138=) n.3727A>G | |
6 | g.75914121A>T | CA450938502 | MYO6 | c.3402A>T (p.Arg1134=) c.3498A>T (p.Arg1166=) c.3429A>T (p.Arg1143=) c.3525A>T (p.Arg1175=) c.*1509A>T (n.*1509A>T) n.1664A>T c.3528A>T (p.Arg1176=) c.3486A>T (p.Arg1162=) c.3471A>T (p.Arg1157=) c.3459A>T (p.Arg1153=) c.3432A>T (p.Arg1144=) c.3414A>T (p.Arg1138=) n.3727A>T | |
6 | g.75914123_75914128dup | CA2739289901 | MYO6 | c.3404_3409dup (p.Gln1136_Arg1137insGlnGln) c.3500_3505dup (p.Gln1168_Arg1169insGlnGln) c.3431_3436dup (p.Gln1145_Arg1146insGlnGln) c.3527_3532dup (p.Gln1177_Arg1178insGlnGln) c.*1511_*1516dup (n.*1511_*1516dup) n.1666_1671dup c.3530_3535dup (p.Gln1178_Arg1179insGlnGln) c.3488_3493dup (p.Gln1164_Arg1165insGlnGln) c.3473_3478dup (p.Gln1159_Arg1160insGlnGln) c.3461_3466dup (p.Gln1155_Arg1156insGlnGln) c.3434_3439dup (p.Gln1146_Arg1147insGlnGln) c.3416_3421dup (p.Gln1140_Arg1141insGlnGln) n.3729_3734dup | |
6 | g.75914122C>A | CA364761393 | MYO6 | c.3403C>A (p.Gln1135Lys) c.3499C>A (p.Gln1167Lys) c.3430C>A (p.Gln1144Lys) c.3526C>A (p.Gln1176Lys) c.*1510C>A (n.*1510C>A) n.1665C>A c.3529C>A (p.Gln1177Lys) c.3487C>A (p.Gln1163Lys) c.3472C>A (p.Gln1158Lys) c.3460C>A (p.Gln1154Lys) c.3433C>A (p.Gln1145Lys) c.3415C>A (p.Gln1139Lys) n.3728C>A | dbSNP |
6 | g.75914122C>G | CA364761395 | MYO6 | c.3403C>G (p.Gln1135Glu) c.3499C>G (p.Gln1167Glu) c.3430C>G (p.Gln1144Glu) c.3526C>G (p.Gln1176Glu) c.*1510C>G (n.*1510C>G) n.1665C>G c.3529C>G (p.Gln1177Glu) c.3487C>G (p.Gln1163Glu) c.3472C>G (p.Gln1158Glu) c.3460C>G (p.Gln1154Glu) c.3433C>G (p.Gln1145Glu) c.3415C>G (p.Gln1139Glu) n.3728C>G | |
6 | g.75914122C>T | CA3897745 | MYO6 | c.3403C>T (p.Gln1135Ter) c.3499C>T (p.Gln1167Ter) c.3430C>T (p.Gln1144Ter) c.3526C>T (p.Gln1176Ter) c.*1510C>T (n.*1510C>T) n.1665C>T c.3529C>T (p.Gln1177Ter) c.3487C>T (p.Gln1163Ter) c.3472C>T (p.Gln1158Ter) c.3460C>T (p.Gln1154Ter) c.3433C>T (p.Gln1145Ter) c.3415C>T (p.Gln1139Ter) n.3728C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914123A>C | CA141060160 | MYO6 | c.3404A>C (p.Gln1135Pro) c.3500A>C (p.Gln1167Pro) c.3431A>C (p.Gln1144Pro) c.3527A>C (p.Gln1176Pro) c.*1511A>C (n.*1511A>C) n.1666A>C c.3530A>C (p.Gln1177Pro) c.3488A>C (p.Gln1163Pro) c.3473A>C (p.Gln1158Pro) c.3461A>C (p.Gln1154Pro) c.3434A>C (p.Gln1145Pro) c.3416A>C (p.Gln1139Pro) n.3729A>C | dbSNP |
6 | g.75914123A>G | CA364761400 | MYO6 | c.3404A>G (p.Gln1135Arg) c.3500A>G (p.Gln1167Arg) c.3431A>G (p.Gln1144Arg) c.3527A>G (p.Gln1176Arg) c.*1511A>G (n.*1511A>G) n.1666A>G c.3530A>G (p.Gln1177Arg) c.3488A>G (p.Gln1163Arg) c.3473A>G (p.Gln1158Arg) c.3461A>G (p.Gln1154Arg) c.3434A>G (p.Gln1145Arg) c.3416A>G (p.Gln1139Arg) n.3729A>G | |
6 | g.75914123A>T | CA364761402 | MYO6 | c.3404A>T (p.Gln1135Leu) c.3500A>T (p.Gln1167Leu) c.3431A>T (p.Gln1144Leu) c.3527A>T (p.Gln1176Leu) c.*1511A>T (n.*1511A>T) n.1666A>T c.3530A>T (p.Gln1177Leu) c.3488A>T (p.Gln1163Leu) c.3473A>T (p.Gln1158Leu) c.3461A>T (p.Gln1154Leu) c.3434A>T (p.Gln1145Leu) c.3416A>T (p.Gln1139Leu) n.3729A>T | COSMIC COSMIC |
6 | g.75914124G>A | CA450938504 | MYO6 | c.3405G>A (p.Gln1135=) c.3501G>A (p.Gln1167=) c.3432G>A (p.Gln1144=) c.3528G>A (p.Gln1176=) c.*1512G>A (n.*1512G>A) n.1667G>A c.3531G>A (p.Gln1177=) c.3489G>A (p.Gln1163=) c.3474G>A (p.Gln1158=) c.3462G>A (p.Gln1154=) c.3435G>A (p.Gln1145=) c.3417G>A (p.Gln1139=) n.3730G>A | |
6 | g.75914124G>C | CA364761419 | MYO6 | c.3405G>C (p.Gln1135His) c.3501G>C (p.Gln1167His) c.3432G>C (p.Gln1144His) c.3528G>C (p.Gln1176His) c.*1512G>C (n.*1512G>C) n.1667G>C c.3531G>C (p.Gln1177His) c.3489G>C (p.Gln1163His) c.3474G>C (p.Gln1158His) c.3462G>C (p.Gln1154His) c.3435G>C (p.Gln1145His) c.3417G>C (p.Gln1139His) n.3730G>C | |
6 | g.75914124G>T | CA364761415 | MYO6 | c.3405G>T (p.Gln1135His) c.3501G>T (p.Gln1167His) c.3432G>T (p.Gln1144His) c.3528G>T (p.Gln1176His) c.*1512G>T (n.*1512G>T) n.1667G>T c.3531G>T (p.Gln1177His) c.3489G>T (p.Gln1163His) c.3474G>T (p.Gln1158His) c.3462G>T (p.Gln1154His) c.3435G>T (p.Gln1145His) c.3417G>T (p.Gln1139His) n.3730G>T | |
6 | g.75914125C>A | CA364761431 | MYO6 | c.3406C>A (p.Gln1136Lys) c.3502C>A (p.Gln1168Lys) c.3433C>A (p.Gln1145Lys) c.3529C>A (p.Gln1177Lys) c.*1513C>A (n.*1513C>A) n.1668C>A c.3532C>A (p.Gln1178Lys) c.3490C>A (p.Gln1164Lys) c.3475C>A (p.Gln1159Lys) c.3463C>A (p.Gln1155Lys) c.3436C>A (p.Gln1146Lys) c.3418C>A (p.Gln1140Lys) n.3731C>A | |
6 | g.75914125C>G | CA364761433 | MYO6 | c.3406C>G (p.Gln1136Glu) c.3502C>G (p.Gln1168Glu) c.3433C>G (p.Gln1145Glu) c.3529C>G (p.Gln1177Glu) c.*1513C>G (n.*1513C>G) n.1668C>G c.3532C>G (p.Gln1178Glu) c.3490C>G (p.Gln1164Glu) c.3475C>G (p.Gln1159Glu) c.3463C>G (p.Gln1155Glu) c.3436C>G (p.Gln1146Glu) c.3418C>G (p.Gln1140Glu) n.3731C>G | |
6 | g.75914125C>T | CA364761436 | MYO6 | c.3406C>T (p.Gln1136Ter) c.3502C>T (p.Gln1168Ter) c.3433C>T (p.Gln1145Ter) c.3529C>T (p.Gln1177Ter) c.*1513C>T (n.*1513C>T) n.1668C>T c.3532C>T (p.Gln1178Ter) c.3490C>T (p.Gln1164Ter) c.3475C>T (p.Gln1159Ter) c.3463C>T (p.Gln1155Ter) c.3436C>T (p.Gln1146Ter) c.3418C>T (p.Gln1140Ter) n.3731C>T | |
6 | g.75914126A>C | CA364761438 | MYO6 | c.3407A>C (p.Gln1136Pro) c.3503A>C (p.Gln1168Pro) c.3434A>C (p.Gln1145Pro) c.3530A>C (p.Gln1177Pro) c.*1514A>C (n.*1514A>C) n.1669A>C c.3533A>C (p.Gln1178Pro) c.3491A>C (p.Gln1164Pro) c.3476A>C (p.Gln1159Pro) c.3464A>C (p.Gln1155Pro) c.3437A>C (p.Gln1146Pro) c.3419A>C (p.Gln1140Pro) n.3732A>C | gnomAD v4 |
6 | g.75914126A>G | CA364761441 | MYO6 | c.3407A>G (p.Gln1136Arg) c.3503A>G (p.Gln1168Arg) c.3434A>G (p.Gln1145Arg) c.3530A>G (p.Gln1177Arg) c.*1514A>G (n.*1514A>G) n.1669A>G c.3533A>G (p.Gln1178Arg) c.3491A>G (p.Gln1164Arg) c.3476A>G (p.Gln1159Arg) c.3464A>G (p.Gln1155Arg) c.3437A>G (p.Gln1146Arg) c.3419A>G (p.Gln1140Arg) n.3732A>G | |
6 | g.75914126A>T | CA364761443 | MYO6 | c.3407A>T (p.Gln1136Leu) c.3503A>T (p.Gln1168Leu) c.3434A>T (p.Gln1145Leu) c.3530A>T (p.Gln1177Leu) c.*1514A>T (n.*1514A>T) n.1669A>T c.3533A>T (p.Gln1178Leu) c.3491A>T (p.Gln1164Leu) c.3476A>T (p.Gln1159Leu) c.3464A>T (p.Gln1155Leu) c.3437A>T (p.Gln1146Leu) c.3419A>T (p.Gln1140Leu) n.3732A>T | |
6 | g.75914127A>C | CA364761453 | MYO6 | c.3408A>C (p.Gln1136His) c.3504A>C (p.Gln1168His) c.3435A>C (p.Gln1145His) c.3531A>C (p.Gln1177His) c.*1515A>C (n.*1515A>C) n.1670A>C c.3534A>C (p.Gln1178His) c.3492A>C (p.Gln1164His) c.3477A>C (p.Gln1159His) c.3465A>C (p.Gln1155His) c.3438A>C (p.Gln1146His) c.3420A>C (p.Gln1140His) n.3733A>C | |
6 | g.75914127A>G | CA3897746 | MYO6 | c.3408A>G (p.Gln1136=) c.3504A>G (p.Gln1168=) c.3435A>G (p.Gln1145=) c.3531A>G (p.Gln1177=) c.*1515A>G (n.*1515A>G) n.1670A>G c.3534A>G (p.Gln1178=) c.3492A>G (p.Gln1164=) c.3477A>G (p.Gln1159=) c.3465A>G (p.Gln1155=) c.3438A>G (p.Gln1146=) c.3420A>G (p.Gln1140=) n.3733A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914127A>T | CA364761466 | MYO6 | c.3408A>T (p.Gln1136His) c.3504A>T (p.Gln1168His) c.3435A>T (p.Gln1145His) c.3531A>T (p.Gln1177His) c.*1515A>T (n.*1515A>T) n.1670A>T c.3534A>T (p.Gln1178His) c.3492A>T (p.Gln1164His) c.3477A>T (p.Gln1159His) c.3465A>T (p.Gln1155His) c.3438A>T (p.Gln1146His) c.3420A>T (p.Gln1140His) n.3733A>T | |
6 | g.75914128C>A | CA364761471 | MYO6 | c.3409C>A (p.Arg1137Ser) c.3505C>A (p.Arg1169Ser) c.3436C>A (p.Arg1146Ser) c.3532C>A (p.Arg1178Ser) c.*1516C>A (n.*1516C>A) n.1671C>A c.3535C>A (p.Arg1179Ser) c.3493C>A (p.Arg1165Ser) c.3478C>A (p.Arg1160Ser) c.3466C>A (p.Arg1156Ser) c.3439C>A (p.Arg1147Ser) c.3421C>A (p.Arg1141Ser) n.3734C>A | gnomAD v4 |
6 | g.75914128C>G | CA364761472 | MYO6 | c.3409C>G (p.Arg1137Gly) c.3505C>G (p.Arg1169Gly) c.3436C>G (p.Arg1146Gly) c.3532C>G (p.Arg1178Gly) c.*1516C>G (n.*1516C>G) n.1671C>G c.3535C>G (p.Arg1179Gly) c.3493C>G (p.Arg1165Gly) c.3478C>G (p.Arg1160Gly) c.3466C>G (p.Arg1156Gly) c.3439C>G (p.Arg1147Gly) c.3421C>G (p.Arg1141Gly) n.3734C>G | |
6 | g.75914128C>T | CA177362 | MYO6 | c.3409C>T (p.Arg1137Cys) c.3505C>T (p.Arg1169Cys) c.3436C>T (p.Arg1146Cys) c.3532C>T (p.Arg1178Cys) c.*1516C>T (n.*1516C>T) n.1671C>T c.3535C>T (p.Arg1179Cys) c.3493C>T (p.Arg1165Cys) c.3478C>T (p.Arg1160Cys) c.3466C>T (p.Arg1156Cys) c.3439C>T (p.Arg1147Cys) c.3421C>T (p.Arg1141Cys) n.3734C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914129G>A | CA3897747 | MYO6 | c.3410G>A (p.Arg1137His) c.3506G>A (p.Arg1169His) c.3437G>A (p.Arg1146His) c.3533G>A (p.Arg1178His) c.*1517G>A (n.*1517G>A) n.1672G>A c.3536G>A (p.Arg1179His) c.3494G>A (p.Arg1165His) c.3479G>A (p.Arg1160His) c.3467G>A (p.Arg1156His) c.3440G>A (p.Arg1147His) c.3422G>A (p.Arg1141His) n.3735G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.75914129G>C | CA364761475 | MYO6 | c.3410G>C (p.Arg1137Pro) c.3506G>C (p.Arg1169Pro) c.3437G>C (p.Arg1146Pro) c.3533G>C (p.Arg1178Pro) c.*1517G>C (n.*1517G>C) n.1672G>C c.3536G>C (p.Arg1179Pro) c.3494G>C (p.Arg1165Pro) c.3479G>C (p.Arg1160Pro) c.3467G>C (p.Arg1156Pro) c.3440G>C (p.Arg1147Pro) c.3422G>C (p.Arg1141Pro) n.3735G>C | |
6 | g.75914129G>T | CA364761474 | MYO6 | c.3410G>T (p.Arg1137Leu) c.3506G>T (p.Arg1169Leu) c.3437G>T (p.Arg1146Leu) c.3533G>T (p.Arg1178Leu) c.*1517G>T (n.*1517G>T) n.1672G>T c.3536G>T (p.Arg1179Leu) c.3494G>T (p.Arg1165Leu) c.3479G>T (p.Arg1160Leu) c.3467G>T (p.Arg1156Leu) c.3440G>T (p.Arg1147Leu) c.3422G>T (p.Arg1141Leu) n.3735G>T | ClinVar |
6 | g.75914130C>A | CA450938505 | MYO6 | c.3411C>A (p.Arg1137=) c.3507C>A (p.Arg1169=) c.3438C>A (p.Arg1146=) c.3534C>A (p.Arg1178=) c.*1518C>A (n.*1518C>A) n.1673C>A c.3537C>A (p.Arg1179=) c.3495C>A (p.Arg1165=) c.3480C>A (p.Arg1160=) c.3468C>A (p.Arg1156=) c.3441C>A (p.Arg1147=) c.3423C>A (p.Arg1141=) n.3736C>A | dbSNP |
6 | g.75914130C>G | CA450938506 | MYO6 | c.3411C>G (p.Arg1137=) c.3507C>G (p.Arg1169=) c.3438C>G (p.Arg1146=) c.3534C>G (p.Arg1178=) c.*1518C>G (n.*1518C>G) n.1673C>G c.3537C>G (p.Arg1179=) c.3495C>G (p.Arg1165=) c.3480C>G (p.Arg1160=) c.3468C>G (p.Arg1156=) c.3441C>G (p.Arg1147=) c.3423C>G (p.Arg1141=) n.3736C>G | |
6 | g.75914130C>T | CA450938507 | MYO6 | c.3411C>T (p.Arg1137=) c.3507C>T (p.Arg1169=) c.3438C>T (p.Arg1146=) c.3534C>T (p.Arg1178=) c.*1518C>T (n.*1518C>T) n.1673C>T c.3537C>T (p.Arg1179=) c.3495C>T (p.Arg1165=) c.3480C>T (p.Arg1160=) c.3468C>T (p.Arg1156=) c.3441C>T (p.Arg1147=) c.3423C>T (p.Arg1141=) n.3736C>T | |
6 | g.75914131T>A | CA364761477 | MYO6 | c.3412T>A (p.Phe1138Ile) c.3508T>A (p.Phe1170Ile) c.3439T>A (p.Phe1147Ile) c.3535T>A (p.Phe1179Ile) c.*1519T>A (n.*1519T>A) n.1674T>A c.3538T>A (p.Phe1180Ile) c.3496T>A (p.Phe1166Ile) c.3481T>A (p.Phe1161Ile) c.3469T>A (p.Phe1157Ile) c.3442T>A (p.Phe1148Ile) c.3424T>A (p.Phe1142Ile) n.3737T>A | |
6 | g.75914131T>C | CA364761479 | MYO6 | c.3412T>C (p.Phe1138Leu) c.3508T>C (p.Phe1170Leu) c.3439T>C (p.Phe1147Leu) c.3535T>C (p.Phe1179Leu) c.*1519T>C (n.*1519T>C) n.1674T>C c.3538T>C (p.Phe1180Leu) c.3496T>C (p.Phe1166Leu) c.3481T>C (p.Phe1161Leu) c.3469T>C (p.Phe1157Leu) c.3442T>C (p.Phe1148Leu) c.3424T>C (p.Phe1142Leu) n.3737T>C | |
6 | g.75914131T>G | CA364761478 | MYO6 | c.3412T>G (p.Phe1138Val) c.3508T>G (p.Phe1170Val) c.3439T>G (p.Phe1147Val) c.3535T>G (p.Phe1179Val) c.*1519T>G (n.*1519T>G) n.1674T>G c.3538T>G (p.Phe1180Val) c.3496T>G (p.Phe1166Val) c.3481T>G (p.Phe1161Val) c.3469T>G (p.Phe1157Val) c.3442T>G (p.Phe1148Val) c.3424T>G (p.Phe1142Val) n.3737T>G | |
6 | g.75914132T>A | CA364761480 | MYO6 | c.3413T>A (p.Phe1138Tyr) c.3509T>A (p.Phe1170Tyr) c.3440T>A (p.Phe1147Tyr) c.3536T>A (p.Phe1179Tyr) c.*1520T>A (n.*1520T>A) n.1675T>A c.3539T>A (p.Phe1180Tyr) c.3497T>A (p.Phe1166Tyr) c.3482T>A (p.Phe1161Tyr) c.3470T>A (p.Phe1157Tyr) c.3443T>A (p.Phe1148Tyr) c.3425T>A (p.Phe1142Tyr) n.3738T>A | |
6 | g.75914132T>C | CA364761485 | MYO6 | c.3413T>C (p.Phe1138Ser) c.3509T>C (p.Phe1170Ser) c.3440T>C (p.Phe1147Ser) c.3536T>C (p.Phe1179Ser) c.*1520T>C (n.*1520T>C) n.1675T>C c.3539T>C (p.Phe1180Ser) c.3497T>C (p.Phe1166Ser) c.3482T>C (p.Phe1161Ser) c.3470T>C (p.Phe1157Ser) c.3443T>C (p.Phe1148Ser) c.3425T>C (p.Phe1142Ser) n.3738T>C | |
6 | g.75914132T>G | CA364761482 | MYO6 | c.3413T>G (p.Phe1138Cys) c.3509T>G (p.Phe1170Cys) c.3440T>G (p.Phe1147Cys) c.3536T>G (p.Phe1179Cys) c.*1520T>G (n.*1520T>G) n.1675T>G c.3539T>G (p.Phe1180Cys) c.3497T>G (p.Phe1166Cys) c.3482T>G (p.Phe1161Cys) c.3470T>G (p.Phe1157Cys) c.3443T>G (p.Phe1148Cys) c.3425T>G (p.Phe1142Cys) n.3738T>G | dbSNP gnomAD v4 |
6 | g.75914133C>A | CA364761488 | MYO6 | c.3414C>A (p.Phe1138Leu) c.3510C>A (p.Phe1170Leu) c.3441C>A (p.Phe1147Leu) c.3537C>A (p.Phe1179Leu) c.*1521C>A (n.*1521C>A) n.1676C>A c.3540C>A (p.Phe1180Leu) c.3498C>A (p.Phe1166Leu) c.3483C>A (p.Phe1161Leu) c.3471C>A (p.Phe1157Leu) c.3444C>A (p.Phe1148Leu) c.3426C>A (p.Phe1142Leu) n.3739C>A | COSMIC COSMIC |
6 | g.75914133C>G | CA364761489 | MYO6 | c.3414C>G (p.Phe1138Leu) c.3510C>G (p.Phe1170Leu) c.3441C>G (p.Phe1147Leu) c.3537C>G (p.Phe1179Leu) c.*1521C>G (n.*1521C>G) n.1676C>G c.3540C>G (p.Phe1180Leu) c.3498C>G (p.Phe1166Leu) c.3483C>G (p.Phe1161Leu) c.3471C>G (p.Phe1157Leu) c.3444C>G (p.Phe1148Leu) c.3426C>G (p.Phe1142Leu) n.3739C>G | |
6 | g.75914133C>T | CA450938508 | MYO6 | c.3414C>T (p.Phe1138=) c.3510C>T (p.Phe1170=) c.3441C>T (p.Phe1147=) c.3537C>T (p.Phe1179=) c.*1521C>T (n.*1521C>T) n.1676C>T c.3540C>T (p.Phe1180=) c.3498C>T (p.Phe1166=) c.3483C>T (p.Phe1161=) c.3471C>T (p.Phe1157=) c.3444C>T (p.Phe1148=) c.3426C>T (p.Phe1142=) n.3739C>T | |
6 | g.75914134T>A | CA364761492 | MYO6 | c.3415T>A (p.Phe1139Ile) c.3511T>A (p.Phe1171Ile) c.3442T>A (p.Phe1148Ile) c.3538T>A (p.Phe1180Ile) c.*1522T>A (n.*1522T>A) n.1677T>A c.3541T>A (p.Phe1181Ile) c.3499T>A (p.Phe1167Ile) c.3484T>A (p.Phe1162Ile) c.3472T>A (p.Phe1158Ile) c.3445T>A (p.Phe1149Ile) c.3427T>A (p.Phe1143Ile) n.3740T>A | |
6 | g.75914134T>C | CA364761494 | MYO6 | c.3415T>C (p.Phe1139Leu) c.3511T>C (p.Phe1171Leu) c.3442T>C (p.Phe1148Leu) c.3538T>C (p.Phe1180Leu) c.*1522T>C (n.*1522T>C) n.1677T>C c.3541T>C (p.Phe1181Leu) c.3499T>C (p.Phe1167Leu) c.3484T>C (p.Phe1162Leu) c.3472T>C (p.Phe1158Leu) c.3445T>C (p.Phe1149Leu) c.3427T>C (p.Phe1143Leu) n.3740T>C | |
6 | g.75914134T>G | CA364761497 | MYO6 | c.3415T>G (p.Phe1139Val) c.3511T>G (p.Phe1171Val) c.3442T>G (p.Phe1148Val) c.3538T>G (p.Phe1180Val) c.*1522T>G (n.*1522T>G) n.1677T>G c.3541T>G (p.Phe1181Val) c.3499T>G (p.Phe1167Val) c.3484T>G (p.Phe1162Val) c.3472T>G (p.Phe1158Val) c.3445T>G (p.Phe1149Val) c.3427T>G (p.Phe1143Val) n.3740T>G | |
6 | g.75914135T>A | CA364761503 | MYO6 | c.3416T>A (p.Phe1139Tyr) c.3512T>A (p.Phe1171Tyr) c.3443T>A (p.Phe1148Tyr) c.3539T>A (p.Phe1180Tyr) c.*1523T>A (n.*1523T>A) n.1678T>A c.3542T>A (p.Phe1181Tyr) c.3500T>A (p.Phe1167Tyr) c.3485T>A (p.Phe1162Tyr) c.3473T>A (p.Phe1158Tyr) c.3446T>A (p.Phe1149Tyr) c.3428T>A (p.Phe1143Tyr) n.3741T>A | |
6 | g.75914135T>C | CA364761501 | MYO6 | c.3416T>C (p.Phe1139Ser) c.3512T>C (p.Phe1171Ser) c.3443T>C (p.Phe1148Ser) c.3539T>C (p.Phe1180Ser) c.*1523T>C (n.*1523T>C) n.1678T>C c.3542T>C (p.Phe1181Ser) c.3500T>C (p.Phe1167Ser) c.3485T>C (p.Phe1162Ser) c.3473T>C (p.Phe1158Ser) c.3446T>C (p.Phe1149Ser) c.3428T>C (p.Phe1143Ser) n.3741T>C | |
6 | g.75914135T>G | CA364761499 | MYO6 | c.3416T>G (p.Phe1139Cys) c.3512T>G (p.Phe1171Cys) c.3443T>G (p.Phe1148Cys) c.3539T>G (p.Phe1180Cys) c.*1523T>G (n.*1523T>G) n.1678T>G c.3542T>G (p.Phe1181Cys) c.3500T>G (p.Phe1167Cys) c.3485T>G (p.Phe1162Cys) c.3473T>G (p.Phe1158Cys) c.3446T>G (p.Phe1149Cys) c.3428T>G (p.Phe1143Cys) n.3741T>G | |
6 | g.75914136C>A | CA364761506 | MYO6 | c.3417C>A (p.Phe1139Leu) c.3513C>A (p.Phe1171Leu) c.3444C>A (p.Phe1148Leu) c.3540C>A (p.Phe1180Leu) c.*1524C>A (n.*1524C>A) n.1679C>A c.3543C>A (p.Phe1181Leu) c.3501C>A (p.Phe1167Leu) c.3486C>A (p.Phe1162Leu) c.3474C>A (p.Phe1158Leu) c.3447C>A (p.Phe1149Leu) c.3429C>A (p.Phe1143Leu) n.3742C>A | |
6 | g.75914136C>G | CA364761509 | MYO6 | c.3417C>G (p.Phe1139Leu) c.3513C>G (p.Phe1171Leu) c.3444C>G (p.Phe1148Leu) c.3540C>G (p.Phe1180Leu) c.*1524C>G (n.*1524C>G) n.1679C>G c.3543C>G (p.Phe1181Leu) c.3501C>G (p.Phe1167Leu) c.3486C>G (p.Phe1162Leu) c.3474C>G (p.Phe1158Leu) c.3447C>G (p.Phe1149Leu) c.3429C>G (p.Phe1143Leu) n.3742C>G | gnomAD v4 |
6 | g.75914136C>T | CA3897748 | MYO6 | c.3417C>T (p.Phe1139=) c.3513C>T (p.Phe1171=) c.3444C>T (p.Phe1148=) c.3540C>T (p.Phe1180=) c.*1524C>T (n.*1524C>T) n.1679C>T c.3543C>T (p.Phe1181=) c.3501C>T (p.Phe1167=) c.3486C>T (p.Phe1162=) c.3474C>T (p.Phe1158=) c.3447C>T (p.Phe1149=) c.3429C>T (p.Phe1143=) n.3742C>T | dbSNP ExAC gnomAD v2 |
6 | g.75914137C>A | CA364761511 | MYO6 | c.3418C>A (p.Arg1140Ser) c.3514C>A (p.Arg1172Ser) c.3445C>A (p.Arg1149Ser) c.3541C>A (p.Arg1181Ser) c.*1525C>A (n.*1525C>A) n.1680C>A c.3544C>A (p.Arg1182Ser) c.3502C>A (p.Arg1168Ser) c.3487C>A (p.Arg1163Ser) c.3475C>A (p.Arg1159Ser) c.3448C>A (p.Arg1150Ser) c.3430C>A (p.Arg1144Ser) n.3743C>A | |
6 | g.75914137C>G | CA141060174 | MYO6 | c.3418C>G (p.Arg1140Gly) c.3514C>G (p.Arg1172Gly) c.3445C>G (p.Arg1149Gly) c.3541C>G (p.Arg1181Gly) c.*1525C>G (n.*1525C>G) n.1680C>G c.3544C>G (p.Arg1182Gly) c.3502C>G (p.Arg1168Gly) c.3487C>G (p.Arg1163Gly) c.3475C>G (p.Arg1159Gly) c.3448C>G (p.Arg1150Gly) c.3430C>G (p.Arg1144Gly) n.3743C>G | dbSNP gnomAD v4 |
6 | g.75914137C>T | CA3897749 | MYO6 | c.3418C>T (p.Arg1140Cys) c.3514C>T (p.Arg1172Cys) c.3445C>T (p.Arg1149Cys) c.3541C>T (p.Arg1181Cys) c.*1525C>T (n.*1525C>T) n.1680C>T c.3544C>T (p.Arg1182Cys) c.3502C>T (p.Arg1168Cys) c.3487C>T (p.Arg1163Cys) c.3475C>T (p.Arg1159Cys) c.3448C>T (p.Arg1150Cys) c.3430C>T (p.Arg1144Cys) n.3743C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914138G>A | CA3897750 | MYO6 | c.3419G>A (p.Arg1140His) c.3515G>A (p.Arg1172His) c.3446G>A (p.Arg1149His) c.3542G>A (p.Arg1181His) c.*1526G>A (n.*1526G>A) n.1681G>A c.3545G>A (p.Arg1182His) c.3503G>A (p.Arg1168His) c.3488G>A (p.Arg1163His) c.3476G>A (p.Arg1159His) c.3449G>A (p.Arg1150His) c.3431G>A (p.Arg1144His) n.3744G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914138G>C | CA364761514 | MYO6 | c.3419G>C (p.Arg1140Pro) c.3515G>C (p.Arg1172Pro) c.3446G>C (p.Arg1149Pro) c.3542G>C (p.Arg1181Pro) c.*1526G>C (n.*1526G>C) n.1681G>C c.3545G>C (p.Arg1182Pro) c.3503G>C (p.Arg1168Pro) c.3488G>C (p.Arg1163Pro) c.3476G>C (p.Arg1159Pro) c.3449G>C (p.Arg1150Pro) c.3431G>C (p.Arg1144Pro) n.3744G>C | |
6 | g.75914138G>T | CA364761512 | MYO6 | c.3419G>T (p.Arg1140Leu) c.3515G>T (p.Arg1172Leu) c.3446G>T (p.Arg1149Leu) c.3542G>T (p.Arg1181Leu) c.*1526G>T (n.*1526G>T) n.1681G>T c.3545G>T (p.Arg1182Leu) c.3503G>T (p.Arg1168Leu) c.3488G>T (p.Arg1163Leu) c.3476G>T (p.Arg1159Leu) c.3449G>T (p.Arg1150Leu) c.3431G>T (p.Arg1144Leu) n.3744G>T | |
6 | g.75914139C>A | CA450938510 | MYO6 | c.3420C>A (p.Arg1140=) c.3516C>A (p.Arg1172=) c.3447C>A (p.Arg1149=) c.3543C>A (p.Arg1181=) c.*1527C>A (n.*1527C>A) n.1682C>A c.3546C>A (p.Arg1182=) c.3504C>A (p.Arg1168=) c.3489C>A (p.Arg1163=) c.3477C>A (p.Arg1159=) c.3450C>A (p.Arg1150=) c.3432C>A (p.Arg1144=) n.3745C>A | |
6 | g.75914139C>G | CA450938511 | MYO6 | c.3420C>G (p.Arg1140=) c.3516C>G (p.Arg1172=) c.3447C>G (p.Arg1149=) c.3543C>G (p.Arg1181=) c.*1527C>G (n.*1527C>G) n.1682C>G c.3546C>G (p.Arg1182=) c.3504C>G (p.Arg1168=) c.3489C>G (p.Arg1163=) c.3477C>G (p.Arg1159=) c.3450C>G (p.Arg1150=) c.3432C>G (p.Arg1144=) n.3745C>G | |
6 | g.75914139C>T | CA450938509 | MYO6 | c.3420C>T (p.Arg1140=) c.3516C>T (p.Arg1172=) c.3447C>T (p.Arg1149=) c.3543C>T (p.Arg1181=) c.*1527C>T (n.*1527C>T) n.1682C>T c.3546C>T (p.Arg1182=) c.3504C>T (p.Arg1168=) c.3489C>T (p.Arg1163=) c.3477C>T (p.Arg1159=) c.3450C>T (p.Arg1150=) c.3432C>T (p.Arg1144=) n.3745C>T | dbSNP |
6 | g.75914144_75914152del | CA3897751 | MYO6 | c.3425_3433del (p.Pro1142_Ile1144del) c.3521_3529del (p.Pro1174_Ile1176del) c.3452_3460del (p.Pro1151_Ile1153del) c.3548_3556del (p.Pro1183_Ile1185del) c.*1532_*1540del (n.*1532_*1540del) n.1687_1695del c.3551_3559del (p.Pro1184_Ile1186del) c.3509_3517del (p.Pro1170_Ile1172del) c.3494_3502del (p.Pro1165_Ile1167del) c.3482_3490del (p.Pro1161_Ile1163del) c.3455_3463del (p.Pro1152_Ile1154del) c.3437_3445del (p.Pro1146_Ile1148del) n.3750_3758del | dbSNP ExAC gnomAD v2 |
6 | g.75914140A>C | CA364761527 | MYO6 | c.3421A>C (p.Ile1141Leu) c.3517A>C (p.Ile1173Leu) c.3448A>C (p.Ile1150Leu) c.3544A>C (p.Ile1182Leu) c.*1528A>C (n.*1528A>C) n.1683A>C c.3547A>C (p.Ile1183Leu) c.3505A>C (p.Ile1169Leu) c.3490A>C (p.Ile1164Leu) c.3478A>C (p.Ile1160Leu) c.3451A>C (p.Ile1151Leu) c.3433A>C (p.Ile1145Leu) n.3746A>C | |
6 | g.75914140A>G | CA364761545 | MYO6 | c.3421A>G (p.Ile1141Val) c.3517A>G (p.Ile1173Val) c.3448A>G (p.Ile1150Val) c.3544A>G (p.Ile1182Val) c.*1528A>G (n.*1528A>G) n.1683A>G c.3547A>G (p.Ile1183Val) c.3505A>G (p.Ile1169Val) c.3490A>G (p.Ile1164Val) c.3478A>G (p.Ile1160Val) c.3451A>G (p.Ile1151Val) c.3433A>G (p.Ile1145Val) n.3746A>G | dbSNP |
6 | g.75914140A>T | CA364761547 | MYO6 | c.3421A>T (p.Ile1141Phe) c.3517A>T (p.Ile1173Phe) c.3448A>T (p.Ile1150Phe) c.3544A>T (p.Ile1182Phe) c.*1528A>T (n.*1528A>T) n.1683A>T c.3547A>T (p.Ile1183Phe) c.3505A>T (p.Ile1169Phe) c.3490A>T (p.Ile1164Phe) c.3478A>T (p.Ile1160Phe) c.3451A>T (p.Ile1151Phe) c.3433A>T (p.Ile1145Phe) n.3746A>T | |
6 | g.75914141T>A | CA364761551 | MYO6 | c.3422T>A (p.Ile1141Asn) c.3518T>A (p.Ile1173Asn) c.3449T>A (p.Ile1150Asn) c.3545T>A (p.Ile1182Asn) c.*1529T>A (n.*1529T>A) n.1684T>A c.3548T>A (p.Ile1183Asn) c.3506T>A (p.Ile1169Asn) c.3491T>A (p.Ile1164Asn) c.3479T>A (p.Ile1160Asn) c.3452T>A (p.Ile1151Asn) c.3434T>A (p.Ile1145Asn) n.3747T>A | |
6 | g.75914141T>C | CA364761553 | MYO6 | c.3422T>C (p.Ile1141Thr) c.3518T>C (p.Ile1173Thr) c.3449T>C (p.Ile1150Thr) c.3545T>C (p.Ile1182Thr) c.*1529T>C (n.*1529T>C) n.1684T>C c.3548T>C (p.Ile1183Thr) c.3506T>C (p.Ile1169Thr) c.3491T>C (p.Ile1164Thr) c.3479T>C (p.Ile1160Thr) c.3452T>C (p.Ile1151Thr) c.3434T>C (p.Ile1145Thr) n.3747T>C | ClinVar dbSNP |
6 | g.75914141T>G | CA364761556 | MYO6 | c.3422T>G (p.Ile1141Ser) c.3518T>G (p.Ile1173Ser) c.3449T>G (p.Ile1150Ser) c.3545T>G (p.Ile1182Ser) c.*1529T>G (n.*1529T>G) n.1684T>G c.3548T>G (p.Ile1183Ser) c.3506T>G (p.Ile1169Ser) c.3491T>G (p.Ile1164Ser) c.3479T>G (p.Ile1160Ser) c.3452T>G (p.Ile1151Ser) c.3434T>G (p.Ile1145Ser) n.3747T>G | |
6 | g.75914142C>A | CA450938512 | MYO6 | c.3423C>A (p.Ile1141=) c.3519C>A (p.Ile1173=) c.3450C>A (p.Ile1150=) c.3546C>A (p.Ile1182=) c.*1530C>A (n.*1530C>A) n.1685C>A c.3549C>A (p.Ile1183=) c.3507C>A (p.Ile1169=) c.3492C>A (p.Ile1164=) c.3480C>A (p.Ile1160=) c.3453C>A (p.Ile1151=) c.3435C>A (p.Ile1145=) n.3748C>A | |
6 | g.75914142C>G | CA364761559 | MYO6 | c.3423C>G (p.Ile1141Met) c.3519C>G (p.Ile1173Met) c.3450C>G (p.Ile1150Met) c.3546C>G (p.Ile1182Met) c.*1530C>G (n.*1530C>G) n.1685C>G c.3549C>G (p.Ile1183Met) c.3507C>G (p.Ile1169Met) c.3492C>G (p.Ile1164Met) c.3480C>G (p.Ile1160Met) c.3453C>G (p.Ile1151Met) c.3435C>G (p.Ile1145Met) n.3748C>G | |
6 | g.75914142C>T | CA450938513 | MYO6 | c.3423C>T (p.Ile1141=) c.3519C>T (p.Ile1173=) c.3450C>T (p.Ile1150=) c.3546C>T (p.Ile1182=) c.*1530C>T (n.*1530C>T) n.1685C>T c.3549C>T (p.Ile1183=) c.3507C>T (p.Ile1169=) c.3492C>T (p.Ile1164=) c.3480C>T (p.Ile1160=) c.3453C>T (p.Ile1151=) c.3435C>T (p.Ile1145=) n.3748C>T | |
6 | g.75914143C>A | CA364761560 | MYO6 | c.3424C>A (p.Pro1142Thr) c.3520C>A (p.Pro1174Thr) c.3451C>A (p.Pro1151Thr) c.3547C>A (p.Pro1183Thr) c.*1531C>A (n.*1531C>A) n.1686C>A c.3550C>A (p.Pro1184Thr) c.3508C>A (p.Pro1170Thr) c.3493C>A (p.Pro1165Thr) c.3481C>A (p.Pro1161Thr) c.3454C>A (p.Pro1152Thr) c.3436C>A (p.Pro1146Thr) n.3749C>A | |
6 | g.75914143C>G | CA364761561 | MYO6 | c.3424C>G (p.Pro1142Ala) c.3520C>G (p.Pro1174Ala) c.3451C>G (p.Pro1151Ala) c.3547C>G (p.Pro1183Ala) c.*1531C>G (n.*1531C>G) n.1686C>G c.3550C>G (p.Pro1184Ala) c.3508C>G (p.Pro1170Ala) c.3493C>G (p.Pro1165Ala) c.3481C>G (p.Pro1161Ala) c.3454C>G (p.Pro1152Ala) c.3436C>G (p.Pro1146Ala) n.3749C>G | |
6 | g.75914143C>T | CA141060202 | MYO6 | c.3424C>T (p.Pro1142Ser) c.3520C>T (p.Pro1174Ser) c.3451C>T (p.Pro1151Ser) c.3547C>T (p.Pro1183Ser) c.*1531C>T (n.*1531C>T) n.1686C>T c.3550C>T (p.Pro1184Ser) c.3508C>T (p.Pro1170Ser) c.3493C>T (p.Pro1165Ser) c.3481C>T (p.Pro1161Ser) c.3454C>T (p.Pro1152Ser) c.3436C>T (p.Pro1146Ser) n.3749C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914144C>A | CA364761566 | MYO6 | c.3425C>A (p.Pro1142Gln) c.3521C>A (p.Pro1174Gln) c.3452C>A (p.Pro1151Gln) c.3548C>A (p.Pro1183Gln) c.*1532C>A (n.*1532C>A) n.1687C>A c.3551C>A (p.Pro1184Gln) c.3509C>A (p.Pro1170Gln) c.3494C>A (p.Pro1165Gln) c.3482C>A (p.Pro1161Gln) c.3455C>A (p.Pro1152Gln) c.3437C>A (p.Pro1146Gln) n.3750C>A | |
6 | g.75914144C>G | CA364761571 | MYO6 | c.3425C>G (p.Pro1142Arg) c.3521C>G (p.Pro1174Arg) c.3452C>G (p.Pro1151Arg) c.3548C>G (p.Pro1183Arg) c.*1532C>G (n.*1532C>G) n.1687C>G c.3551C>G (p.Pro1184Arg) c.3509C>G (p.Pro1170Arg) c.3494C>G (p.Pro1165Arg) c.3482C>G (p.Pro1161Arg) c.3455C>G (p.Pro1152Arg) c.3437C>G (p.Pro1146Arg) n.3750C>G | |
6 | g.75914144C>T | CA364761569 | MYO6 | c.3425C>T (p.Pro1142Leu) c.3521C>T (p.Pro1174Leu) c.3452C>T (p.Pro1151Leu) c.3548C>T (p.Pro1183Leu) c.*1532C>T (n.*1532C>T) n.1687C>T c.3551C>T (p.Pro1184Leu) c.3509C>T (p.Pro1170Leu) c.3494C>T (p.Pro1165Leu) c.3482C>T (p.Pro1161Leu) c.3455C>T (p.Pro1152Leu) c.3437C>T (p.Pro1146Leu) n.3750C>T | |
6 | g.75914145A>C | CA450938514 | MYO6 | c.3426A>C (p.Pro1142=) c.3522A>C (p.Pro1174=) c.3453A>C (p.Pro1151=) c.3549A>C (p.Pro1183=) c.*1533A>C (n.*1533A>C) n.1688A>C c.3552A>C (p.Pro1184=) c.3510A>C (p.Pro1170=) c.3495A>C (p.Pro1165=) c.3483A>C (p.Pro1161=) c.3456A>C (p.Pro1152=) c.3438A>C (p.Pro1146=) n.3751A>C | |
6 | g.75914145A>G | CA450938515 | MYO6 | c.3426A>G (p.Pro1142=) c.3522A>G (p.Pro1174=) c.3453A>G (p.Pro1151=) c.3549A>G (p.Pro1183=) c.*1533A>G (n.*1533A>G) n.1688A>G c.3552A>G (p.Pro1184=) c.3510A>G (p.Pro1170=) c.3495A>G (p.Pro1165=) c.3483A>G (p.Pro1161=) c.3456A>G (p.Pro1152=) c.3438A>G (p.Pro1146=) n.3751A>G | gnomAD v4 |
6 | g.75914145A>T | CA450938516 | MYO6 | c.3426A>T (p.Pro1142=) c.3522A>T (p.Pro1174=) c.3453A>T (p.Pro1151=) c.3549A>T (p.Pro1183=) c.*1533A>T (n.*1533A>T) n.1688A>T c.3552A>T (p.Pro1184=) c.3510A>T (p.Pro1170=) c.3495A>T (p.Pro1165=) c.3483A>T (p.Pro1161=) c.3456A>T (p.Pro1152=) c.3438A>T (p.Pro1146=) n.3751A>T | |
6 | g.75914146T>A | CA364761574 | MYO6 | c.3427T>A (p.Phe1143Ile) c.3523T>A (p.Phe1175Ile) c.3454T>A (p.Phe1152Ile) c.3550T>A (p.Phe1184Ile) c.*1534T>A (n.*1534T>A) n.1689T>A c.3553T>A (p.Phe1185Ile) c.3511T>A (p.Phe1171Ile) c.3496T>A (p.Phe1166Ile) c.3484T>A (p.Phe1162Ile) c.3457T>A (p.Phe1153Ile) c.3439T>A (p.Phe1147Ile) n.3752T>A | |
6 | g.75914146T>C | CA364761575 | MYO6 | c.3427T>C (p.Phe1143Leu) c.3523T>C (p.Phe1175Leu) c.3454T>C (p.Phe1152Leu) c.3550T>C (p.Phe1184Leu) c.*1534T>C (n.*1534T>C) n.1689T>C c.3553T>C (p.Phe1185Leu) c.3511T>C (p.Phe1171Leu) c.3496T>C (p.Phe1166Leu) c.3484T>C (p.Phe1162Leu) c.3457T>C (p.Phe1153Leu) c.3439T>C (p.Phe1147Leu) n.3752T>C | |
6 | g.75914146T>G | CA364761576 | MYO6 | c.3427T>G (p.Phe1143Val) c.3523T>G (p.Phe1175Val) c.3454T>G (p.Phe1152Val) c.3550T>G (p.Phe1184Val) c.*1534T>G (n.*1534T>G) n.1689T>G c.3553T>G (p.Phe1185Val) c.3511T>G (p.Phe1171Val) c.3496T>G (p.Phe1166Val) c.3484T>G (p.Phe1162Val) c.3457T>G (p.Phe1153Val) c.3439T>G (p.Phe1147Val) n.3752T>G | |
6 | g.75914147T>A | CA364761578 | MYO6 | c.3428T>A (p.Phe1143Tyr) c.3524T>A (p.Phe1175Tyr) c.3455T>A (p.Phe1152Tyr) c.3551T>A (p.Phe1184Tyr) c.*1535T>A (n.*1535T>A) n.1690T>A c.3554T>A (p.Phe1185Tyr) c.3512T>A (p.Phe1171Tyr) c.3497T>A (p.Phe1166Tyr) c.3485T>A (p.Phe1162Tyr) c.3458T>A (p.Phe1153Tyr) c.3440T>A (p.Phe1147Tyr) n.3753T>A | |
6 | g.75914147T>C | CA364761581 | MYO6 | c.3428T>C (p.Phe1143Ser) c.3524T>C (p.Phe1175Ser) c.3455T>C (p.Phe1152Ser) c.3551T>C (p.Phe1184Ser) c.*1535T>C (n.*1535T>C) n.1690T>C c.3554T>C (p.Phe1185Ser) c.3512T>C (p.Phe1171Ser) c.3497T>C (p.Phe1166Ser) c.3485T>C (p.Phe1162Ser) c.3458T>C (p.Phe1153Ser) c.3440T>C (p.Phe1147Ser) n.3753T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914147T>G | CA364761590 | MYO6 | c.3428T>G (p.Phe1143Cys) c.3524T>G (p.Phe1175Cys) c.3455T>G (p.Phe1152Cys) c.3551T>G (p.Phe1184Cys) c.*1535T>G (n.*1535T>G) n.1690T>G c.3554T>G (p.Phe1185Cys) c.3512T>G (p.Phe1171Cys) c.3497T>G (p.Phe1166Cys) c.3485T>G (p.Phe1162Cys) c.3458T>G (p.Phe1153Cys) c.3440T>G (p.Phe1147Cys) n.3753T>G | |
6 | g.75914148C>A | CA364761591 | MYO6 | c.3429C>A (p.Phe1143Leu) c.3525C>A (p.Phe1175Leu) c.3456C>A (p.Phe1152Leu) c.3552C>A (p.Phe1184Leu) c.*1536C>A (n.*1536C>A) n.1691C>A c.3555C>A (p.Phe1185Leu) c.3513C>A (p.Phe1171Leu) c.3498C>A (p.Phe1166Leu) c.3486C>A (p.Phe1162Leu) c.3459C>A (p.Phe1153Leu) c.3441C>A (p.Phe1147Leu) n.3754C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914148C>G | CA364761592 | MYO6 | c.3429C>G (p.Phe1143Leu) c.3525C>G (p.Phe1175Leu) c.3456C>G (p.Phe1152Leu) c.3552C>G (p.Phe1184Leu) c.*1536C>G (n.*1536C>G) n.1691C>G c.3555C>G (p.Phe1185Leu) c.3513C>G (p.Phe1171Leu) c.3498C>G (p.Phe1166Leu) c.3486C>G (p.Phe1162Leu) c.3459C>G (p.Phe1153Leu) c.3441C>G (p.Phe1147Leu) n.3754C>G | |
6 | g.75914148C>T | CA450938517 | MYO6 | c.3429C>T (p.Phe1143=) c.3525C>T (p.Phe1175=) c.3456C>T (p.Phe1152=) c.3552C>T (p.Phe1184=) c.*1536C>T (n.*1536C>T) n.1691C>T c.3555C>T (p.Phe1185=) c.3513C>T (p.Phe1171=) c.3498C>T (p.Phe1166=) c.3486C>T (p.Phe1162=) c.3459C>T (p.Phe1153=) c.3441C>T (p.Phe1147=) n.3754C>T | |
6 | g.75914149A>C | CA141060203 | MYO6 | c.3430A>C (p.Ile1144Leu) c.3526A>C (p.Ile1176Leu) c.3457A>C (p.Ile1153Leu) c.3553A>C (p.Ile1185Leu) c.*1537A>C (n.*1537A>C) n.1692A>C c.3556A>C (p.Ile1186Leu) c.3514A>C (p.Ile1172Leu) c.3499A>C (p.Ile1167Leu) c.3487A>C (p.Ile1163Leu) c.3460A>C (p.Ile1154Leu) c.3442A>C (p.Ile1148Leu) n.3755A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914149A>G | CA3897752 | MYO6 | c.3430A>G (p.Ile1144Val) c.3526A>G (p.Ile1176Val) c.3457A>G (p.Ile1153Val) c.3553A>G (p.Ile1185Val) c.*1537A>G (n.*1537A>G) n.1692A>G c.3556A>G (p.Ile1186Val) c.3514A>G (p.Ile1172Val) c.3499A>G (p.Ile1167Val) c.3487A>G (p.Ile1163Val) c.3460A>G (p.Ile1154Val) c.3442A>G (p.Ile1148Val) n.3755A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914149A>T | CA364761602 | MYO6 | c.3430A>T (p.Ile1144Phe) c.3526A>T (p.Ile1176Phe) c.3457A>T (p.Ile1153Phe) c.3553A>T (p.Ile1185Phe) c.*1537A>T (n.*1537A>T) n.1692A>T c.3556A>T (p.Ile1186Phe) c.3514A>T (p.Ile1172Phe) c.3499A>T (p.Ile1167Phe) c.3487A>T (p.Ile1163Phe) c.3460A>T (p.Ile1154Phe) c.3442A>T (p.Ile1148Phe) n.3755A>T | gnomAD v4 |
6 | g.75914150T>A | CA364761607 | MYO6 | c.3431T>A (p.Ile1144Asn) c.3527T>A (p.Ile1176Asn) c.3458T>A (p.Ile1153Asn) c.3554T>A (p.Ile1185Asn) c.*1538T>A (n.*1538T>A) n.1693T>A c.3557T>A (p.Ile1186Asn) c.3515T>A (p.Ile1172Asn) c.3500T>A (p.Ile1167Asn) c.3488T>A (p.Ile1163Asn) c.3461T>A (p.Ile1154Asn) c.3443T>A (p.Ile1148Asn) n.3756T>A | |
6 | g.75914150T>C | CA364761604 | MYO6 | c.3431T>C (p.Ile1144Thr) c.3527T>C (p.Ile1176Thr) c.3458T>C (p.Ile1153Thr) c.3554T>C (p.Ile1185Thr) c.*1538T>C (n.*1538T>C) n.1693T>C c.3557T>C (p.Ile1186Thr) c.3515T>C (p.Ile1172Thr) c.3500T>C (p.Ile1167Thr) c.3488T>C (p.Ile1163Thr) c.3461T>C (p.Ile1154Thr) c.3443T>C (p.Ile1148Thr) n.3756T>C | gnomAD v4 |
6 | g.75914150T>G | CA364761603 | MYO6 | c.3431T>G (p.Ile1144Ser) c.3527T>G (p.Ile1176Ser) c.3458T>G (p.Ile1153Ser) c.3554T>G (p.Ile1185Ser) c.*1538T>G (n.*1538T>G) n.1693T>G c.3557T>G (p.Ile1186Ser) c.3515T>G (p.Ile1172Ser) c.3500T>G (p.Ile1167Ser) c.3488T>G (p.Ile1163Ser) c.3461T>G (p.Ile1154Ser) c.3443T>G (p.Ile1148Ser) n.3756T>G | |
6 | g.75914151C>A | CA450938518 | MYO6 | c.3432C>A (p.Ile1144=) c.3528C>A (p.Ile1176=) c.3459C>A (p.Ile1153=) c.3555C>A (p.Ile1185=) c.*1539C>A (n.*1539C>A) n.1694C>A c.3558C>A (p.Ile1186=) c.3516C>A (p.Ile1172=) c.3501C>A (p.Ile1167=) c.3489C>A (p.Ile1163=) c.3462C>A (p.Ile1154=) c.3444C>A (p.Ile1148=) n.3757C>A | |
6 | g.75914151C>G | CA364761614 | MYO6 | c.3432C>G (p.Ile1144Met) c.3528C>G (p.Ile1176Met) c.3459C>G (p.Ile1153Met) c.3555C>G (p.Ile1185Met) c.*1539C>G (n.*1539C>G) n.1694C>G c.3558C>G (p.Ile1186Met) c.3516C>G (p.Ile1172Met) c.3501C>G (p.Ile1167Met) c.3489C>G (p.Ile1163Met) c.3462C>G (p.Ile1154Met) c.3444C>G (p.Ile1148Met) n.3757C>G | |
6 | g.75914151C>T | CA3897753 | MYO6 | c.3432C>T (p.Ile1144=) c.3528C>T (p.Ile1176=) c.3459C>T (p.Ile1153=) c.3555C>T (p.Ile1185=) c.*1539C>T (n.*1539C>T) n.1694C>T c.3558C>T (p.Ile1186=) c.3516C>T (p.Ile1172=) c.3501C>T (p.Ile1167=) c.3489C>T (p.Ile1163=) c.3462C>T (p.Ile1154=) c.3444C>T (p.Ile1148=) n.3757C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914152C>A | CA364761619 | MYO6 | c.3433C>A (p.Arg1145Ser) c.3529C>A (p.Arg1177Ser) c.3460C>A (p.Arg1154Ser) c.3556C>A (p.Arg1186Ser) c.*1540C>A (n.*1540C>A) n.1695C>A c.3559C>A (p.Arg1187Ser) c.3517C>A (p.Arg1173Ser) c.3502C>A (p.Arg1168Ser) c.3490C>A (p.Arg1164Ser) c.3463C>A (p.Arg1155Ser) c.3445C>A (p.Arg1149Ser) n.3758C>A | |
6 | g.75914152C>G | CA364761625 | MYO6 | c.3433C>G (p.Arg1145Gly) c.3529C>G (p.Arg1177Gly) c.3460C>G (p.Arg1154Gly) c.3556C>G (p.Arg1186Gly) c.*1540C>G (n.*1540C>G) n.1695C>G c.3559C>G (p.Arg1187Gly) c.3517C>G (p.Arg1173Gly) c.3502C>G (p.Arg1168Gly) c.3490C>G (p.Arg1164Gly) c.3463C>G (p.Arg1155Gly) c.3445C>G (p.Arg1149Gly) n.3758C>G | |
6 | g.75914152C>T | CA3897754 | MYO6 | c.3433C>T (p.Arg1145Cys) c.3529C>T (p.Arg1177Cys) c.3460C>T (p.Arg1154Cys) c.3556C>T (p.Arg1186Cys) c.*1540C>T (n.*1540C>T) n.1695C>T c.3559C>T (p.Arg1187Cys) c.3517C>T (p.Arg1173Cys) c.3502C>T (p.Arg1168Cys) c.3490C>T (p.Arg1164Cys) c.3463C>T (p.Arg1155Cys) c.3445C>T (p.Arg1149Cys) n.3758C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.75914153G>A | CA3897755 | MYO6 | c.3434G>A (p.Arg1145His) c.3530G>A (p.Arg1177His) c.3461G>A (p.Arg1154His) c.3557G>A (p.Arg1186His) c.*1541G>A (n.*1541G>A) n.1696G>A c.3560G>A (p.Arg1187His) c.3518G>A (p.Arg1173His) c.3503G>A (p.Arg1168His) c.3491G>A (p.Arg1164His) c.3464G>A (p.Arg1155His) c.3446G>A (p.Arg1149His) n.3759G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914153G>C | CA364761626 | MYO6 | c.3434G>C (p.Arg1145Pro) c.3530G>C (p.Arg1177Pro) c.3461G>C (p.Arg1154Pro) c.3557G>C (p.Arg1186Pro) c.*1541G>C (n.*1541G>C) n.1696G>C c.3560G>C (p.Arg1187Pro) c.3518G>C (p.Arg1173Pro) c.3503G>C (p.Arg1168Pro) c.3491G>C (p.Arg1164Pro) c.3464G>C (p.Arg1155Pro) c.3446G>C (p.Arg1149Pro) n.3759G>C | |
6 | g.75914153G>T | CA364761627 | MYO6 | c.3434G>T (p.Arg1145Leu) c.3530G>T (p.Arg1177Leu) c.3461G>T (p.Arg1154Leu) c.3557G>T (p.Arg1186Leu) c.*1541G>T (n.*1541G>T) n.1696G>T c.3560G>T (p.Arg1187Leu) c.3518G>T (p.Arg1173Leu) c.3503G>T (p.Arg1168Leu) c.3491G>T (p.Arg1164Leu) c.3464G>T (p.Arg1155Leu) c.3446G>T (p.Arg1149Leu) n.3759G>T | gnomAD v4 COSMIC COSMIC |
6 | g.75914154C>A | CA450938519 | MYO6 | c.3435C>A (p.Arg1145=) c.3531C>A (p.Arg1177=) c.3462C>A (p.Arg1154=) c.3558C>A (p.Arg1186=) c.*1542C>A (n.*1542C>A) n.1697C>A c.3561C>A (p.Arg1187=) c.3519C>A (p.Arg1173=) c.3504C>A (p.Arg1168=) c.3492C>A (p.Arg1164=) c.3465C>A (p.Arg1155=) c.3447C>A (p.Arg1149=) n.3760C>A | |
6 | g.75914154C>G | CA450938520 | MYO6 | c.3435C>G (p.Arg1145=) c.3531C>G (p.Arg1177=) c.3462C>G (p.Arg1154=) c.3558C>G (p.Arg1186=) c.*1542C>G (n.*1542C>G) n.1697C>G c.3561C>G (p.Arg1187=) c.3519C>G (p.Arg1173=) c.3504C>G (p.Arg1168=) c.3492C>G (p.Arg1164=) c.3465C>G (p.Arg1155=) c.3447C>G (p.Arg1149=) n.3760C>G | |
6 | g.75914154C>T | CA3897756 | MYO6 | c.3435C>T (p.Arg1145=) c.3531C>T (p.Arg1177=) c.3462C>T (p.Arg1154=) c.3558C>T (p.Arg1186=) c.*1542C>T (n.*1542C>T) n.1697C>T c.3561C>T (p.Arg1187=) c.3519C>T (p.Arg1173=) c.3504C>T (p.Arg1168=) c.3492C>T (p.Arg1164=) c.3465C>T (p.Arg1155=) c.3447C>T (p.Arg1149=) n.3760C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914156dup | CA2497157113 | MYO6 | c.3437dup (p.Ala1147CysfsTer10) c.3533dup (p.Ala1179CysfsTer10) c.3464dup (p.Ala1156CysfsTer10) c.3560dup (p.Ala1188CysfsTer10) c.*1544dup (n.*1544dup) n.1699dup c.3563dup (p.Ala1189CysfsTer10) c.3521dup (p.Ala1175CysfsTer10) c.3506dup (p.Ala1170CysfsTer10) c.3494dup (p.Ala1166CysfsTer10) c.3467dup (p.Ala1157CysfsTer10) c.3449dup (p.Ala1151CysfsTer10) n.3762dup | dbSNP |
6 | g.75914155C>A | CA364761630 | MYO6 | c.3436C>A (p.Pro1146Thr) c.3532C>A (p.Pro1178Thr) c.3463C>A (p.Pro1155Thr) c.3559C>A (p.Pro1187Thr) c.*1543C>A (n.*1543C>A) n.1698C>A c.3562C>A (p.Pro1188Thr) c.3520C>A (p.Pro1174Thr) c.3505C>A (p.Pro1169Thr) c.3493C>A (p.Pro1165Thr) c.3466C>A (p.Pro1156Thr) c.3448C>A (p.Pro1150Thr) n.3761C>A | |
6 | g.75914155C>G | CA364761632 | MYO6 | c.3436C>G (p.Pro1146Ala) c.3532C>G (p.Pro1178Ala) c.3463C>G (p.Pro1155Ala) c.3559C>G (p.Pro1187Ala) c.*1543C>G (n.*1543C>G) n.1698C>G c.3562C>G (p.Pro1188Ala) c.3520C>G (p.Pro1174Ala) c.3505C>G (p.Pro1169Ala) c.3493C>G (p.Pro1165Ala) c.3466C>G (p.Pro1156Ala) c.3448C>G (p.Pro1150Ala) n.3761C>G | |
6 | g.75914155C>T | CA364761634 | MYO6 | c.3436C>T (p.Pro1146Ser) c.3532C>T (p.Pro1178Ser) c.3463C>T (p.Pro1155Ser) c.3559C>T (p.Pro1187Ser) c.*1543C>T (n.*1543C>T) n.1698C>T c.3562C>T (p.Pro1188Ser) c.3520C>T (p.Pro1174Ser) c.3505C>T (p.Pro1169Ser) c.3493C>T (p.Pro1165Ser) c.3466C>T (p.Pro1156Ser) c.3448C>T (p.Pro1150Ser) n.3761C>T | COSMIC COSMIC |
6 | g.75914156C>A | CA364761640 | MYO6 | c.3437C>A (p.Pro1146His) c.3533C>A (p.Pro1178His) c.3464C>A (p.Pro1155His) c.3560C>A (p.Pro1187His) c.*1544C>A (n.*1544C>A) n.1699C>A c.3563C>A (p.Pro1188His) c.3521C>A (p.Pro1174His) c.3506C>A (p.Pro1169His) c.3494C>A (p.Pro1165His) c.3467C>A (p.Pro1156His) c.3449C>A (p.Pro1150His) n.3762C>A | |
6 | g.75914156C>G | CA364761639 | MYO6 | c.3437C>G (p.Pro1146Arg) c.3533C>G (p.Pro1178Arg) c.3464C>G (p.Pro1155Arg) c.3560C>G (p.Pro1187Arg) c.*1544C>G (n.*1544C>G) n.1699C>G c.3563C>G (p.Pro1188Arg) c.3521C>G (p.Pro1174Arg) c.3506C>G (p.Pro1169Arg) c.3494C>G (p.Pro1165Arg) c.3467C>G (p.Pro1156Arg) c.3449C>G (p.Pro1150Arg) n.3762C>G | |
6 | g.75914156C>T | CA364761636 | MYO6 | c.3437C>T (p.Pro1146Leu) c.3533C>T (p.Pro1178Leu) c.3464C>T (p.Pro1155Leu) c.3560C>T (p.Pro1187Leu) c.*1544C>T (n.*1544C>T) n.1699C>T c.3563C>T (p.Pro1188Leu) c.3521C>T (p.Pro1174Leu) c.3506C>T (p.Pro1169Leu) c.3494C>T (p.Pro1165Leu) c.3467C>T (p.Pro1156Leu) c.3449C>T (p.Pro1150Leu) n.3762C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.75914157T>A | CA450938521 | MYO6 | c.3438T>A (p.Pro1146=) c.3534T>A (p.Pro1178=) c.3465T>A (p.Pro1155=) c.3561T>A (p.Pro1187=) c.*1545T>A (n.*1545T>A) n.1700T>A c.3564T>A (p.Pro1188=) c.3522T>A (p.Pro1174=) c.3507T>A (p.Pro1169=) c.3495T>A (p.Pro1165=) c.3468T>A (p.Pro1156=) c.3450T>A (p.Pro1150=) n.3763T>A | |
6 | g.75914157T>C | CA450938522 | MYO6 | c.3438T>C (p.Pro1146=) c.3534T>C (p.Pro1178=) c.3465T>C (p.Pro1155=) c.3561T>C (p.Pro1187=) c.*1545T>C (n.*1545T>C) n.1700T>C c.3564T>C (p.Pro1188=) c.3522T>C (p.Pro1174=) c.3507T>C (p.Pro1169=) c.3495T>C (p.Pro1165=) c.3468T>C (p.Pro1156=) c.3450T>C (p.Pro1150=) n.3763T>C | |
6 | g.75914157T>G | CA450938523 | MYO6 | c.3438T>G (p.Pro1146=) c.3534T>G (p.Pro1178=) c.3465T>G (p.Pro1155=) c.3561T>G (p.Pro1187=) c.*1545T>G (n.*1545T>G) n.1700T>G c.3564T>G (p.Pro1188=) c.3522T>G (p.Pro1174=) c.3507T>G (p.Pro1169=) c.3495T>G (p.Pro1165=) c.3468T>G (p.Pro1156=) c.3450T>G (p.Pro1150=) n.3763T>G | |
6 | g.75914158G>A | CA364761645 | MYO6 | c.3439G>A (p.Ala1147Thr) c.3535G>A (p.Ala1179Thr) c.3466G>A (p.Ala1156Thr) c.3562G>A (p.Ala1188Thr) c.*1546G>A (n.*1546G>A) n.1701G>A c.3565G>A (p.Ala1189Thr) c.3523G>A (p.Ala1175Thr) c.3508G>A (p.Ala1170Thr) c.3496G>A (p.Ala1166Thr) c.3469G>A (p.Ala1157Thr) c.3451G>A (p.Ala1151Thr) n.3764G>A | dbSNP |
6 | g.75914158G>C | CA364761642 | MYO6 | c.3439G>C (p.Ala1147Pro) c.3535G>C (p.Ala1179Pro) c.3466G>C (p.Ala1156Pro) c.3562G>C (p.Ala1188Pro) c.*1546G>C (n.*1546G>C) n.1701G>C c.3565G>C (p.Ala1189Pro) c.3523G>C (p.Ala1175Pro) c.3508G>C (p.Ala1170Pro) c.3496G>C (p.Ala1166Pro) c.3469G>C (p.Ala1157Pro) c.3451G>C (p.Ala1151Pro) n.3764G>C | |
6 | g.75914158G>T | CA3897757 | MYO6 | c.3439G>T (p.Ala1147Ser) c.3535G>T (p.Ala1179Ser) c.3466G>T (p.Ala1156Ser) c.3562G>T (p.Ala1188Ser) c.*1546G>T (n.*1546G>T) n.1701G>T c.3565G>T (p.Ala1189Ser) c.3523G>T (p.Ala1175Ser) c.3508G>T (p.Ala1170Ser) c.3496G>T (p.Ala1166Ser) c.3469G>T (p.Ala1157Ser) c.3451G>T (p.Ala1151Ser) n.3764G>T | dbSNP ExAC gnomAD v2 |
6 | g.75914159C>A | CA364761648 | MYO6 | c.3440C>A (p.Ala1147Asp) c.3536C>A (p.Ala1179Asp) c.3467C>A (p.Ala1156Asp) c.3563C>A (p.Ala1188Asp) c.*1547C>A (n.*1547C>A) n.1702C>A c.3566C>A (p.Ala1189Asp) c.3524C>A (p.Ala1175Asp) c.3509C>A (p.Ala1170Asp) c.3497C>A (p.Ala1166Asp) c.3470C>A (p.Ala1157Asp) c.3452C>A (p.Ala1151Asp) n.3765C>A | |
6 | g.75914159C>G | CA364761649 | MYO6 | c.3440C>G (p.Ala1147Gly) c.3536C>G (p.Ala1179Gly) c.3467C>G (p.Ala1156Gly) c.3563C>G (p.Ala1188Gly) c.*1547C>G (n.*1547C>G) n.1702C>G c.3566C>G (p.Ala1189Gly) c.3524C>G (p.Ala1175Gly) c.3509C>G (p.Ala1170Gly) c.3497C>G (p.Ala1166Gly) c.3470C>G (p.Ala1157Gly) c.3452C>G (p.Ala1151Gly) n.3765C>G | |
6 | g.75914159C>T | CA364761650 | MYO6 | c.3440C>T (p.Ala1147Val) c.3536C>T (p.Ala1179Val) c.3467C>T (p.Ala1156Val) c.3563C>T (p.Ala1188Val) c.*1547C>T (n.*1547C>T) n.1702C>T c.3566C>T (p.Ala1189Val) c.3524C>T (p.Ala1175Val) c.3509C>T (p.Ala1170Val) c.3497C>T (p.Ala1166Val) c.3470C>T (p.Ala1157Val) c.3452C>T (p.Ala1151Val) n.3765C>T | |
6 | g.75914160C>A | CA450938524 | MYO6 | c.3441C>A (p.Ala1147=) c.3537C>A (p.Ala1179=) c.3468C>A (p.Ala1156=) c.3564C>A (p.Ala1188=) c.*1548C>A (n.*1548C>A) n.1703C>A c.3567C>A (p.Ala1189=) c.3525C>A (p.Ala1175=) c.3510C>A (p.Ala1170=) c.3498C>A (p.Ala1166=) c.3471C>A (p.Ala1157=) c.3453C>A (p.Ala1151=) n.3766C>A | |
6 | g.75914160C>G | CA450938525 | MYO6 | c.3441C>G (p.Ala1147=) c.3537C>G (p.Ala1179=) c.3468C>G (p.Ala1156=) c.3564C>G (p.Ala1188=) c.*1548C>G (n.*1548C>G) n.1703C>G c.3567C>G (p.Ala1189=) c.3525C>G (p.Ala1175=) c.3510C>G (p.Ala1170=) c.3498C>G (p.Ala1166=) c.3471C>G (p.Ala1157=) c.3453C>G (p.Ala1151=) n.3766C>G | |
6 | g.75914160C>T | CA135631 | MYO6 | c.3441C>T (p.Ala1147=) c.3537C>T (p.Ala1179=) c.3468C>T (p.Ala1156=) c.3564C>T (p.Ala1188=) c.*1548C>T (n.*1548C>T) n.1703C>T c.3567C>T (p.Ala1189=) c.3525C>T (p.Ala1175=) c.3510C>T (p.Ala1170=) c.3498C>T (p.Ala1166=) c.3471C>T (p.Ala1157=) c.3453C>T (p.Ala1151=) n.3766C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914161G>A | CA3897759 | MYO6 | c.3442G>A (p.Asp1148Asn) c.3538G>A (p.Asp1180Asn) c.3469G>A (p.Asp1157Asn) c.3565G>A (p.Asp1189Asn) c.*1549G>A (n.*1549G>A) n.1704G>A c.3568G>A (p.Asp1190Asn) c.3526G>A (p.Asp1176Asn) c.3511G>A (p.Asp1171Asn) c.3499G>A (p.Asp1167Asn) c.3472G>A (p.Asp1158Asn) c.3454G>A (p.Asp1152Asn) n.3767G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.75914161G>C | CA364761654 | MYO6 | c.3442G>C (p.Asp1148His) c.3538G>C (p.Asp1180His) c.3469G>C (p.Asp1157His) c.3565G>C (p.Asp1189His) c.*1549G>C (n.*1549G>C) n.1704G>C c.3568G>C (p.Asp1190His) c.3526G>C (p.Asp1176His) c.3511G>C (p.Asp1171His) c.3499G>C (p.Asp1167His) c.3472G>C (p.Asp1158His) c.3454G>C (p.Asp1152His) n.3767G>C | |
6 | g.75914161G>T | CA3897758 | MYO6 | c.3442G>T (p.Asp1148Tyr) c.3538G>T (p.Asp1180Tyr) c.3469G>T (p.Asp1157Tyr) c.3565G>T (p.Asp1189Tyr) c.*1549G>T (n.*1549G>T) n.1704G>T c.3568G>T (p.Asp1190Tyr) c.3526G>T (p.Asp1176Tyr) c.3511G>T (p.Asp1171Tyr) c.3499G>T (p.Asp1167Tyr) c.3472G>T (p.Asp1158Tyr) c.3454G>T (p.Asp1152Tyr) n.3767G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914162A>C | CA364761664 | MYO6 | c.3443A>C (p.Asp1148Ala) c.3539A>C (p.Asp1180Ala) c.3470A>C (p.Asp1157Ala) c.3566A>C (p.Asp1189Ala) c.*1550A>C (n.*1550A>C) n.1705A>C c.3569A>C (p.Asp1190Ala) c.3527A>C (p.Asp1176Ala) c.3512A>C (p.Asp1171Ala) c.3500A>C (p.Asp1167Ala) c.3473A>C (p.Asp1158Ala) c.3455A>C (p.Asp1152Ala) n.3768A>C | |
6 | g.75914162A>G | CA364761667 | MYO6 | c.3443A>G (p.Asp1148Gly) c.3539A>G (p.Asp1180Gly) c.3470A>G (p.Asp1157Gly) c.3566A>G (p.Asp1189Gly) c.*1550A>G (n.*1550A>G) n.1705A>G c.3569A>G (p.Asp1190Gly) c.3527A>G (p.Asp1176Gly) c.3512A>G (p.Asp1171Gly) c.3500A>G (p.Asp1167Gly) c.3473A>G (p.Asp1158Gly) c.3455A>G (p.Asp1152Gly) n.3768A>G | gnomAD v4 |
6 | g.75914162A>T | CA3897760 | MYO6 | c.3443A>T (p.Asp1148Val) c.3539A>T (p.Asp1180Val) c.3470A>T (p.Asp1157Val) c.3566A>T (p.Asp1189Val) c.*1550A>T (n.*1550A>T) n.1705A>T c.3569A>T (p.Asp1190Val) c.3527A>T (p.Asp1176Val) c.3512A>T (p.Asp1171Val) c.3500A>T (p.Asp1167Val) c.3473A>T (p.Asp1158Val) c.3455A>T (p.Asp1152Val) n.3768A>T | dbSNP ExAC gnomAD v4 |
6 | g.75914163C>A | CA364761672 | MYO6 | c.3444C>A (p.Asp1148Glu) c.3540C>A (p.Asp1180Glu) c.3471C>A (p.Asp1157Glu) c.3567C>A (p.Asp1189Glu) c.*1551C>A (n.*1551C>A) n.1706C>A c.3570C>A (p.Asp1190Glu) c.3528C>A (p.Asp1176Glu) c.3513C>A (p.Asp1171Glu) c.3501C>A (p.Asp1167Glu) c.3474C>A (p.Asp1158Glu) c.3456C>A (p.Asp1152Glu) n.3769C>A | gnomAD v4 |
6 | g.75914163C>G | CA364761673 | MYO6 | c.3444C>G (p.Asp1148Glu) c.3540C>G (p.Asp1180Glu) c.3471C>G (p.Asp1157Glu) c.3567C>G (p.Asp1189Glu) c.*1551C>G (n.*1551C>G) n.1706C>G c.3570C>G (p.Asp1190Glu) c.3528C>G (p.Asp1176Glu) c.3513C>G (p.Asp1171Glu) c.3501C>G (p.Asp1167Glu) c.3474C>G (p.Asp1158Glu) c.3456C>G (p.Asp1152Glu) n.3769C>G | |
6 | g.75914163C>T | CA450938526 | MYO6 | c.3444C>T (p.Asp1148=) c.3540C>T (p.Asp1180=) c.3471C>T (p.Asp1157=) c.3567C>T (p.Asp1189=) c.*1551C>T (n.*1551C>T) n.1706C>T c.3570C>T (p.Asp1190=) c.3528C>T (p.Asp1176=) c.3513C>T (p.Asp1171=) c.3501C>T (p.Asp1167=) c.3474C>T (p.Asp1158=) c.3456C>T (p.Asp1152=) n.3769C>T | |
6 | g.75914164C>A | CA364761678 | MYO6 | c.3445C>A (p.Gln1149Lys) c.3541C>A (p.Gln1181Lys) c.3472C>A (p.Gln1158Lys) c.3568C>A (p.Gln1190Lys) c.*1552C>A (n.*1552C>A) n.1707C>A c.3571C>A (p.Gln1191Lys) c.3529C>A (p.Gln1177Lys) c.3514C>A (p.Gln1172Lys) c.3502C>A (p.Gln1168Lys) c.3475C>A (p.Gln1159Lys) c.3457C>A (p.Gln1153Lys) n.3770C>A | |
6 | g.75914164C>G | CA364761674 | MYO6 | c.3445C>G (p.Gln1149Glu) c.3541C>G (p.Gln1181Glu) c.3472C>G (p.Gln1158Glu) c.3568C>G (p.Gln1190Glu) c.*1552C>G (n.*1552C>G) n.1707C>G c.3571C>G (p.Gln1191Glu) c.3529C>G (p.Gln1177Glu) c.3514C>G (p.Gln1172Glu) c.3502C>G (p.Gln1168Glu) c.3475C>G (p.Gln1159Glu) c.3457C>G (p.Gln1153Glu) n.3770C>G | |
6 | g.75914164C>T | CA364761675 | MYO6 | c.3445C>T (p.Gln1149Ter) c.3541C>T (p.Gln1181Ter) c.3472C>T (p.Gln1158Ter) c.3568C>T (p.Gln1190Ter) c.*1552C>T (n.*1552C>T) n.1707C>T c.3571C>T (p.Gln1191Ter) c.3529C>T (p.Gln1177Ter) c.3514C>T (p.Gln1172Ter) c.3502C>T (p.Gln1168Ter) c.3475C>T (p.Gln1159Ter) c.3457C>T (p.Gln1153Ter) n.3770C>T | |
6 | g.75914165A>C | CA364761680 | MYO6 | c.3446A>C (p.Gln1149Pro) c.3542A>C (p.Gln1181Pro) c.3473A>C (p.Gln1158Pro) c.3569A>C (p.Gln1190Pro) c.*1553A>C (n.*1553A>C) n.1708A>C c.3572A>C (p.Gln1191Pro) c.3530A>C (p.Gln1177Pro) c.3515A>C (p.Gln1172Pro) c.3503A>C (p.Gln1168Pro) c.3476A>C (p.Gln1159Pro) c.3458A>C (p.Gln1153Pro) n.3771A>C | gnomAD v4 |
6 | g.75914165A>G | CA364761684 | MYO6 | c.3446A>G (p.Gln1149Arg) c.3542A>G (p.Gln1181Arg) c.3473A>G (p.Gln1158Arg) c.3569A>G (p.Gln1190Arg) c.*1553A>G (n.*1553A>G) n.1708A>G c.3572A>G (p.Gln1191Arg) c.3530A>G (p.Gln1177Arg) c.3515A>G (p.Gln1172Arg) c.3503A>G (p.Gln1168Arg) c.3476A>G (p.Gln1159Arg) c.3458A>G (p.Gln1153Arg) n.3771A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914165A>T | CA3897761 | MYO6 | c.3446A>T (p.Gln1149Leu) c.3542A>T (p.Gln1181Leu) c.3473A>T (p.Gln1158Leu) c.3569A>T (p.Gln1190Leu) c.*1553A>T (n.*1553A>T) n.1708A>T c.3572A>T (p.Gln1191Leu) c.3530A>T (p.Gln1177Leu) c.3515A>T (p.Gln1172Leu) c.3503A>T (p.Gln1168Leu) c.3476A>T (p.Gln1159Leu) c.3458A>T (p.Gln1153Leu) n.3771A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914166G>A | CA450938527 | MYO6 | c.3447G>A (p.Gln1149=) c.3543G>A (p.Gln1181=) c.3474G>A (p.Gln1158=) c.3570G>A (p.Gln1190=) c.*1554G>A (n.*1554G>A) n.1709G>A c.3573G>A (p.Gln1191=) c.3531G>A (p.Gln1177=) c.3516G>A (p.Gln1172=) c.3504G>A (p.Gln1168=) c.3477G>A (p.Gln1159=) c.3459G>A (p.Gln1153=) n.3772G>A | |
6 | g.75914166G>C | CA364761689 | MYO6 | c.3447G>C (p.Gln1149His) c.3543G>C (p.Gln1181His) c.3474G>C (p.Gln1158His) c.3570G>C (p.Gln1190His) c.*1554G>C (n.*1554G>C) n.1709G>C c.3573G>C (p.Gln1191His) c.3531G>C (p.Gln1177His) c.3516G>C (p.Gln1172His) c.3504G>C (p.Gln1168His) c.3477G>C (p.Gln1159His) c.3459G>C (p.Gln1153His) n.3772G>C | |
6 | g.75914166G>T | CA364761692 | MYO6 | c.3447G>T (p.Gln1149His) c.3543G>T (p.Gln1181His) c.3474G>T (p.Gln1158His) c.3570G>T (p.Gln1190His) c.*1554G>T (n.*1554G>T) n.1709G>T c.3573G>T (p.Gln1191His) c.3531G>T (p.Gln1177His) c.3516G>T (p.Gln1172His) c.3504G>T (p.Gln1168His) c.3477G>T (p.Gln1159His) c.3459G>T (p.Gln1153His) n.3772G>T | |
6 | g.75914167T>A | CA364761695 | MYO6 | c.3448T>A (p.Tyr1150Asn) c.3544T>A (p.Tyr1182Asn) c.3475T>A (p.Tyr1159Asn) c.3571T>A (p.Tyr1191Asn) c.*1555T>A (n.*1555T>A) n.1710T>A c.3574T>A (p.Tyr1192Asn) c.3532T>A (p.Tyr1178Asn) c.3517T>A (p.Tyr1173Asn) c.3505T>A (p.Tyr1169Asn) c.3478T>A (p.Tyr1160Asn) c.3460T>A (p.Tyr1154Asn) n.3773T>A | |
6 | g.75914167T>C | CA364761701 | MYO6 | c.3448T>C (p.Tyr1150His) c.3544T>C (p.Tyr1182His) c.3475T>C (p.Tyr1159His) c.3571T>C (p.Tyr1191His) c.*1555T>C (n.*1555T>C) n.1710T>C c.3574T>C (p.Tyr1192His) c.3532T>C (p.Tyr1178His) c.3517T>C (p.Tyr1173His) c.3505T>C (p.Tyr1169His) c.3478T>C (p.Tyr1160His) c.3460T>C (p.Tyr1154His) n.3773T>C | gnomAD v4 |
6 | g.75914167T>G | CA364761703 | MYO6 | c.3448T>G (p.Tyr1150Asp) c.3544T>G (p.Tyr1182Asp) c.3475T>G (p.Tyr1159Asp) c.3571T>G (p.Tyr1191Asp) c.*1555T>G (n.*1555T>G) n.1710T>G c.3574T>G (p.Tyr1192Asp) c.3532T>G (p.Tyr1178Asp) c.3517T>G (p.Tyr1173Asp) c.3505T>G (p.Tyr1169Asp) c.3478T>G (p.Tyr1160Asp) c.3460T>G (p.Tyr1154Asp) n.3773T>G | |
6 | g.75914168A>C | CA364761705 | MYO6 | c.3449A>C (p.Tyr1150Ser) c.3545A>C (p.Tyr1182Ser) c.3476A>C (p.Tyr1159Ser) c.3572A>C (p.Tyr1191Ser) c.*1556A>C (n.*1556A>C) n.1711A>C c.3575A>C (p.Tyr1192Ser) c.3533A>C (p.Tyr1178Ser) c.3518A>C (p.Tyr1173Ser) c.3506A>C (p.Tyr1169Ser) c.3479A>C (p.Tyr1160Ser) c.3461A>C (p.Tyr1154Ser) n.3774A>C | |
6 | g.75914168A>G | CA364761707 | MYO6 | c.3449A>G (p.Tyr1150Cys) c.3545A>G (p.Tyr1182Cys) c.3476A>G (p.Tyr1159Cys) c.3572A>G (p.Tyr1191Cys) c.*1556A>G (n.*1556A>G) n.1711A>G c.3575A>G (p.Tyr1192Cys) c.3533A>G (p.Tyr1178Cys) c.3518A>G (p.Tyr1173Cys) c.3506A>G (p.Tyr1169Cys) c.3479A>G (p.Tyr1160Cys) c.3461A>G (p.Tyr1154Cys) n.3774A>G | |
6 | g.75914168A>T | CA364761712 | MYO6 | c.3449A>T (p.Tyr1150Phe) c.3545A>T (p.Tyr1182Phe) c.3476A>T (p.Tyr1159Phe) c.3572A>T (p.Tyr1191Phe) c.*1556A>T (n.*1556A>T) n.1711A>T c.3575A>T (p.Tyr1192Phe) c.3533A>T (p.Tyr1178Phe) c.3518A>T (p.Tyr1173Phe) c.3506A>T (p.Tyr1169Phe) c.3479A>T (p.Tyr1160Phe) c.3461A>T (p.Tyr1154Phe) n.3774A>T | |
6 | g.75914169C>A | CA364761715 | MYO6 | c.3450C>A (p.Tyr1150Ter) c.3546C>A (p.Tyr1182Ter) c.3477C>A (p.Tyr1159Ter) c.3573C>A (p.Tyr1191Ter) c.*1557C>A (n.*1557C>A) n.1712C>A c.3576C>A (p.Tyr1192Ter) c.3534C>A (p.Tyr1178Ter) c.3519C>A (p.Tyr1173Ter) c.3507C>A (p.Tyr1169Ter) c.3480C>A (p.Tyr1160Ter) c.3462C>A (p.Tyr1154Ter) n.3775C>A | |
6 | g.75914169C>G | CA364761716 | MYO6 | c.3450C>G (p.Tyr1150Ter) c.3546C>G (p.Tyr1182Ter) c.3477C>G (p.Tyr1159Ter) c.3573C>G (p.Tyr1191Ter) c.*1557C>G (n.*1557C>G) n.1712C>G c.3576C>G (p.Tyr1192Ter) c.3534C>G (p.Tyr1178Ter) c.3519C>G (p.Tyr1173Ter) c.3507C>G (p.Tyr1169Ter) c.3480C>G (p.Tyr1160Ter) c.3462C>G (p.Tyr1154Ter) n.3775C>G | |
6 | g.75914169C>T | CA450938528 | MYO6 | c.3450C>T (p.Tyr1150=) c.3546C>T (p.Tyr1182=) c.3477C>T (p.Tyr1159=) c.3573C>T (p.Tyr1191=) c.*1557C>T (n.*1557C>T) n.1712C>T c.3576C>T (p.Tyr1192=) c.3534C>T (p.Tyr1178=) c.3519C>T (p.Tyr1173=) c.3507C>T (p.Tyr1169=) c.3480C>T (p.Tyr1160=) c.3462C>T (p.Tyr1154=) n.3775C>T | gnomAD v4 |
6 | g.75914170A>C | CA364761720 | MYO6 | c.3451A>C (p.Lys1151Gln) c.3547A>C (p.Lys1183Gln) c.3478A>C (p.Lys1160Gln) c.3574A>C (p.Lys1192Gln) c.*1558A>C (n.*1558A>C) n.1713A>C c.3577A>C (p.Lys1193Gln) c.3535A>C (p.Lys1179Gln) c.3520A>C (p.Lys1174Gln) c.3508A>C (p.Lys1170Gln) c.3481A>C (p.Lys1161Gln) c.3463A>C (p.Lys1155Gln) n.3776A>C | dbSNP |
6 | g.75914170A>G | CA364761731 | MYO6 | c.3451A>G (p.Lys1151Glu) c.3547A>G (p.Lys1183Glu) c.3478A>G (p.Lys1160Glu) c.3574A>G (p.Lys1192Glu) c.*1558A>G (n.*1558A>G) n.1713A>G c.3577A>G (p.Lys1193Glu) c.3535A>G (p.Lys1179Glu) c.3520A>G (p.Lys1174Glu) c.3508A>G (p.Lys1170Glu) c.3481A>G (p.Lys1161Glu) c.3463A>G (p.Lys1155Glu) n.3776A>G | gnomAD v4 |
6 | g.75914170A>T | CA364761722 | MYO6 | c.3451A>T (p.Lys1151Ter) c.3547A>T (p.Lys1183Ter) c.3478A>T (p.Lys1160Ter) c.3574A>T (p.Lys1192Ter) c.*1558A>T (n.*1558A>T) n.1713A>T c.3577A>T (p.Lys1193Ter) c.3535A>T (p.Lys1179Ter) c.3520A>T (p.Lys1174Ter) c.3508A>T (p.Lys1170Ter) c.3481A>T (p.Lys1161Ter) c.3463A>T (p.Lys1155Ter) n.3776A>T | |
6 | g.75914171A>C | CA364761736 | MYO6 | c.3452A>C (p.Lys1151Thr) c.3548A>C (p.Lys1183Thr) c.3479A>C (p.Lys1160Thr) c.3575A>C (p.Lys1192Thr) c.*1559A>C (n.*1559A>C) n.1714A>C c.3578A>C (p.Lys1193Thr) c.3536A>C (p.Lys1179Thr) c.3521A>C (p.Lys1174Thr) c.3509A>C (p.Lys1170Thr) c.3482A>C (p.Lys1161Thr) c.3464A>C (p.Lys1155Thr) n.3777A>C | |
6 | g.75914171A>G | CA364761740 | MYO6 | c.3452A>G (p.Lys1151Arg) c.3548A>G (p.Lys1183Arg) c.3479A>G (p.Lys1160Arg) c.3575A>G (p.Lys1192Arg) c.*1559A>G (n.*1559A>G) n.1714A>G c.3578A>G (p.Lys1193Arg) c.3536A>G (p.Lys1179Arg) c.3521A>G (p.Lys1174Arg) c.3509A>G (p.Lys1170Arg) c.3482A>G (p.Lys1161Arg) c.3464A>G (p.Lys1155Arg) n.3777A>G | dbSNP |
6 | g.75914171A>T | CA364761742 | MYO6 | c.3452A>T (p.Lys1151Ile) c.3548A>T (p.Lys1183Ile) c.3479A>T (p.Lys1160Ile) c.3575A>T (p.Lys1192Ile) c.*1559A>T (n.*1559A>T) n.1714A>T c.3578A>T (p.Lys1193Ile) c.3536A>T (p.Lys1179Ile) c.3521A>T (p.Lys1174Ile) c.3509A>T (p.Lys1170Ile) c.3482A>T (p.Lys1161Ile) c.3464A>T (p.Lys1155Ile) n.3777A>T | |
6 | g.75914172A>C | CA364761745 | MYO6 | c.3453A>C (p.Lys1151Asn) c.3549A>C (p.Lys1183Asn) c.3480A>C (p.Lys1160Asn) c.3576A>C (p.Lys1192Asn) c.*1560A>C (n.*1560A>C) n.1715A>C c.3579A>C (p.Lys1193Asn) c.3537A>C (p.Lys1179Asn) c.3522A>C (p.Lys1174Asn) c.3510A>C (p.Lys1170Asn) c.3483A>C (p.Lys1161Asn) c.3465A>C (p.Lys1155Asn) n.3778A>C | |
6 | g.75914172A>G | CA450938529 | MYO6 | c.3453A>G (p.Lys1151=) c.3549A>G (p.Lys1183=) c.3480A>G (p.Lys1160=) c.3576A>G (p.Lys1192=) c.*1560A>G (n.*1560A>G) n.1715A>G c.3579A>G (p.Lys1193=) c.3537A>G (p.Lys1179=) c.3522A>G (p.Lys1174=) c.3510A>G (p.Lys1170=) c.3483A>G (p.Lys1161=) c.3465A>G (p.Lys1155=) n.3778A>G | |
6 | g.75914172A>T | CA364761749 | MYO6 | c.3453A>T (p.Lys1151Asn) c.3549A>T (p.Lys1183Asn) c.3480A>T (p.Lys1160Asn) c.3576A>T (p.Lys1192Asn) c.*1560A>T (n.*1560A>T) n.1715A>T c.3579A>T (p.Lys1193Asn) c.3537A>T (p.Lys1179Asn) c.3522A>T (p.Lys1174Asn) c.3510A>T (p.Lys1170Asn) c.3483A>T (p.Lys1161Asn) c.3465A>T (p.Lys1155Asn) n.3778A>T | |
6 | g.75914173G>A | CA364761754 | MYO6 | c.3454G>A (p.Asp1152Asn) c.3550G>A (p.Asp1184Asn) c.3481G>A (p.Asp1161Asn) c.3577G>A (p.Asp1193Asn) c.*1561G>A (n.*1561G>A) n.1716G>A c.3580G>A (p.Asp1194Asn) c.3538G>A (p.Asp1180Asn) c.3523G>A (p.Asp1175Asn) c.3511G>A (p.Asp1171Asn) c.3484G>A (p.Asp1162Asn) c.3466G>A (p.Asp1156Asn) n.3779G>A | |
6 | g.75914173G>C | CA364761756 | MYO6 | c.3454G>C (p.Asp1152His) c.3550G>C (p.Asp1184His) c.3481G>C (p.Asp1161His) c.3577G>C (p.Asp1193His) c.*1561G>C (n.*1561G>C) n.1716G>C c.3580G>C (p.Asp1194His) c.3538G>C (p.Asp1180His) c.3523G>C (p.Asp1175His) c.3511G>C (p.Asp1171His) c.3484G>C (p.Asp1162His) c.3466G>C (p.Asp1156His) n.3779G>C | |
6 | g.75914173G>T | CA364761757 | MYO6 | c.3454G>T (p.Asp1152Tyr) c.3550G>T (p.Asp1184Tyr) c.3481G>T (p.Asp1161Tyr) c.3577G>T (p.Asp1193Tyr) c.*1561G>T (n.*1561G>T) n.1716G>T c.3580G>T (p.Asp1194Tyr) c.3538G>T (p.Asp1180Tyr) c.3523G>T (p.Asp1175Tyr) c.3511G>T (p.Asp1171Tyr) c.3484G>T (p.Asp1162Tyr) c.3466G>T (p.Asp1156Tyr) n.3779G>T | |
6 | g.75914174A>C | CA364761758 | MYO6 | c.3455A>C (p.Asp1152Ala) c.3551A>C (p.Asp1184Ala) c.3482A>C (p.Asp1161Ala) c.3578A>C (p.Asp1193Ala) c.*1562A>C (n.*1562A>C) n.1717A>C c.3581A>C (p.Asp1194Ala) c.3539A>C (p.Asp1180Ala) c.3524A>C (p.Asp1175Ala) c.3512A>C (p.Asp1171Ala) c.3485A>C (p.Asp1162Ala) c.3467A>C (p.Asp1156Ala) n.3780A>C | |
6 | g.75914174A>G | CA364761759 | MYO6 | c.3455A>G (p.Asp1152Gly) c.3551A>G (p.Asp1184Gly) c.3482A>G (p.Asp1161Gly) c.3578A>G (p.Asp1193Gly) c.*1562A>G (n.*1562A>G) n.1717A>G c.3581A>G (p.Asp1194Gly) c.3539A>G (p.Asp1180Gly) c.3524A>G (p.Asp1175Gly) c.3512A>G (p.Asp1171Gly) c.3485A>G (p.Asp1162Gly) c.3467A>G (p.Asp1156Gly) n.3780A>G | |
6 | g.75914174A>T | CA364761760 | MYO6 | c.3455A>T (p.Asp1152Val) c.3551A>T (p.Asp1184Val) c.3482A>T (p.Asp1161Val) c.3578A>T (p.Asp1193Val) c.*1562A>T (n.*1562A>T) n.1717A>T c.3581A>T (p.Asp1194Val) c.3539A>T (p.Asp1180Val) c.3524A>T (p.Asp1175Val) c.3512A>T (p.Asp1171Val) c.3485A>T (p.Asp1162Val) c.3467A>T (p.Asp1156Val) n.3780A>T | |
6 | g.75914175C>A | CA364761761 | MYO6 | c.3456C>A (p.Asp1152Glu) c.3552C>A (p.Asp1184Glu) c.3483C>A (p.Asp1161Glu) c.3579C>A (p.Asp1193Glu) c.*1563C>A (n.*1563C>A) n.1718C>A c.3582C>A (p.Asp1194Glu) c.3540C>A (p.Asp1180Glu) c.3525C>A (p.Asp1175Glu) c.3513C>A (p.Asp1171Glu) c.3486C>A (p.Asp1162Glu) c.3468C>A (p.Asp1156Glu) n.3781C>A | gnomAD v4 |
6 | g.75914175C>G | CA364761762 | MYO6 | c.3456C>G (p.Asp1152Glu) c.3552C>G (p.Asp1184Glu) c.3483C>G (p.Asp1161Glu) c.3579C>G (p.Asp1193Glu) c.*1563C>G (n.*1563C>G) n.1718C>G c.3582C>G (p.Asp1194Glu) c.3540C>G (p.Asp1180Glu) c.3525C>G (p.Asp1175Glu) c.3513C>G (p.Asp1171Glu) c.3486C>G (p.Asp1162Glu) c.3468C>G (p.Asp1156Glu) n.3781C>G | |
6 | g.75914175C>T | CA450938530 | MYO6 | c.3456C>T (p.Asp1152=) c.3552C>T (p.Asp1184=) c.3483C>T (p.Asp1161=) c.3579C>T (p.Asp1193=) c.*1563C>T (n.*1563C>T) n.1718C>T c.3582C>T (p.Asp1194=) c.3540C>T (p.Asp1180=) c.3525C>T (p.Asp1175=) c.3513C>T (p.Asp1171=) c.3486C>T (p.Asp1162=) c.3468C>T (p.Asp1156=) n.3781C>T | gnomAD v4 |
6 | g.75914176C>A | CA364761766 | MYO6 | c.3457C>A (p.Pro1153Thr) c.3553C>A (p.Pro1185Thr) c.3484C>A (p.Pro1162Thr) c.3580C>A (p.Pro1194Thr) c.*1564C>A (n.*1564C>A) n.1719C>A c.3583C>A (p.Pro1195Thr) c.3541C>A (p.Pro1181Thr) c.3526C>A (p.Pro1176Thr) c.3514C>A (p.Pro1172Thr) c.3487C>A (p.Pro1163Thr) c.3469C>A (p.Pro1157Thr) n.3782C>A | |
6 | g.75914176C>G | CA364761768 | MYO6 | c.3457C>G (p.Pro1153Ala) c.3553C>G (p.Pro1185Ala) c.3484C>G (p.Pro1162Ala) c.3580C>G (p.Pro1194Ala) c.*1564C>G (n.*1564C>G) n.1719C>G c.3583C>G (p.Pro1195Ala) c.3541C>G (p.Pro1181Ala) c.3526C>G (p.Pro1176Ala) c.3514C>G (p.Pro1172Ala) c.3487C>G (p.Pro1163Ala) c.3469C>G (p.Pro1157Ala) n.3782C>G | |
6 | g.75914176C>T | CA364761767 | MYO6 | c.3457C>T (p.Pro1153Ser) c.3553C>T (p.Pro1185Ser) c.3484C>T (p.Pro1162Ser) c.3580C>T (p.Pro1194Ser) c.*1564C>T (n.*1564C>T) n.1719C>T c.3583C>T (p.Pro1195Ser) c.3541C>T (p.Pro1181Ser) c.3526C>T (p.Pro1176Ser) c.3514C>T (p.Pro1172Ser) c.3487C>T (p.Pro1163Ser) c.3469C>T (p.Pro1157Ser) n.3782C>T | |
6 | g.75914177C>A | CA364761769 | MYO6 | c.3458C>A (p.Pro1153His) c.3554C>A (p.Pro1185His) c.3485C>A (p.Pro1162His) c.3581C>A (p.Pro1194His) c.*1565C>A (n.*1565C>A) n.1720C>A c.3584C>A (p.Pro1195His) c.3542C>A (p.Pro1181His) c.3527C>A (p.Pro1176His) c.3515C>A (p.Pro1172His) c.3488C>A (p.Pro1163His) c.3470C>A (p.Pro1157His) n.3783C>A | |
6 | g.75914177C>G | CA3897762 | MYO6 | c.3458C>G (p.Pro1153Arg) c.3554C>G (p.Pro1185Arg) c.3485C>G (p.Pro1162Arg) c.3581C>G (p.Pro1194Arg) c.*1565C>G (n.*1565C>G) n.1720C>G c.3584C>G (p.Pro1195Arg) c.3542C>G (p.Pro1181Arg) c.3527C>G (p.Pro1176Arg) c.3515C>G (p.Pro1172Arg) c.3488C>G (p.Pro1163Arg) c.3470C>G (p.Pro1157Arg) n.3783C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914177C>T | CA364761775 | MYO6 | c.3458C>T (p.Pro1153Leu) c.3554C>T (p.Pro1185Leu) c.3485C>T (p.Pro1162Leu) c.3581C>T (p.Pro1194Leu) c.*1565C>T (n.*1565C>T) n.1720C>T c.3584C>T (p.Pro1195Leu) c.3542C>T (p.Pro1181Leu) c.3527C>T (p.Pro1176Leu) c.3515C>T (p.Pro1172Leu) c.3488C>T (p.Pro1163Leu) c.3470C>T (p.Pro1157Leu) n.3783C>T | |
6 | g.75914178T>A | CA450938531 | MYO6 | c.3459T>A (p.Pro1153=) c.3555T>A (p.Pro1185=) c.3486T>A (p.Pro1162=) c.3582T>A (p.Pro1194=) c.*1566T>A (n.*1566T>A) n.1721T>A c.3585T>A (p.Pro1195=) c.3543T>A (p.Pro1181=) c.3528T>A (p.Pro1176=) c.3516T>A (p.Pro1172=) c.3489T>A (p.Pro1163=) c.3471T>A (p.Pro1157=) n.3784T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914178T>C | CA450938532 | MYO6 | c.3459T>C (p.Pro1153=) c.3555T>C (p.Pro1185=) c.3486T>C (p.Pro1162=) c.3582T>C (p.Pro1194=) c.*1566T>C (n.*1566T>C) n.1721T>C c.3585T>C (p.Pro1195=) c.3543T>C (p.Pro1181=) c.3528T>C (p.Pro1176=) c.3516T>C (p.Pro1172=) c.3489T>C (p.Pro1163=) c.3471T>C (p.Pro1157=) n.3784T>C | |
6 | g.75914178T>G | CA450938533 | MYO6 | c.3459T>G (p.Pro1153=) c.3555T>G (p.Pro1185=) c.3486T>G (p.Pro1162=) c.3582T>G (p.Pro1194=) c.*1566T>G (n.*1566T>G) n.1721T>G c.3585T>G (p.Pro1195=) c.3543T>G (p.Pro1181=) c.3528T>G (p.Pro1176=) c.3516T>G (p.Pro1172=) c.3489T>G (p.Pro1163=) c.3471T>G (p.Pro1157=) n.3784T>G | |
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.75914193dup | CA2838634539 | MYO6 | c.3474dup (p.Gly1159ArgfsTer8) c.3570dup (p.Gly1191ArgfsTer8) c.3501dup (p.Gly1168ArgfsTer8) c.3597dup (p.Gly1200ArgfsTer8) c.*1581dup (n.*1581dup) n.1736dup c.3600dup (p.Gly1201ArgfsTer8) c.3558dup (p.Gly1187ArgfsTer8) c.3543dup (p.Gly1182ArgfsTer8) c.3531dup (p.Gly1178ArgfsTer8) c.3504dup (p.Gly1169ArgfsTer8) c.3486dup (p.Gly1163ArgfsTer8) n.3799dup | |
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 |