| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |