| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77189348G>A | CA278649 | MYO7A | c.3508G>A (p.Glu1170Lys) c.1349G>A c.3475G>A (p.Glu1159Lys) c.1051G>A (p.Glu351Lys) n.35G>A n.1051G>A c.3418G>A (p.Glu1140Lys) c.3289G>A (p.Glu1097Lys) c.3277G>A (p.Glu1093Lys) c.3250G>A (p.Glu1084Lys) n.3828G>A n.3830G>A c.3598G>A (p.Glu1200Lys) c.3367G>A (p.Glu1123Lys) n.3613G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77189348G>C | CA381946827 | MYO7A | c.3508G>C (p.Glu1170Gln) c.1349G>C c.3475G>C (p.Glu1159Gln) c.1051G>C (p.Glu351Gln) n.35G>C n.1051G>C c.3418G>C (p.Glu1140Gln) c.3289G>C (p.Glu1097Gln) c.3277G>C (p.Glu1093Gln) c.3250G>C (p.Glu1084Gln) n.3828G>C n.3830G>C c.3598G>C (p.Glu1200Gln) c.3367G>C (p.Glu1123Gln) n.3613G>C | |
| 11 | g.77189348G= | CA1984122354 | MYO7A | c.3508G= (p.Glu1170=) c.1349G= c.3475G= (p.Glu1159=) c.1051G= (p.Glu351=) n.35G= n.1051G= c.3418G= (p.Glu1140=) c.3289G= (p.Glu1097=) c.3277G= (p.Glu1093=) c.3250G= (p.Glu1084=) n.3828G= n.3830G= c.3598G= (p.Glu1200=) c.3367G= (p.Glu1123=) n.3613G= | |
| 11 | g.77189348G>T | CA381946826 | MYO7A | c.3508G>T (p.Glu1170Ter) c.1349G>T c.3475G>T (p.Glu1159Ter) c.1051G>T (p.Glu351Ter) n.35G>T n.1051G>T c.3418G>T (p.Glu1140Ter) c.3289G>T (p.Glu1097Ter) c.3277G>T (p.Glu1093Ter) c.3250G>T (p.Glu1084Ter) n.3828G>T n.3830G>T c.3598G>T (p.Glu1200Ter) c.3367G>T (p.Glu1123Ter) n.3613G>T | |
| 11 | g.77189349A= | CA1984122358 | MYO7A | c.3509A= (p.Glu1170=) c.1350A= c.3476A= (p.Glu1159=) c.1052A= (p.Glu351=) n.36A= n.1052A= c.3419A= (p.Glu1140=) c.3290A= (p.Glu1097=) c.3278A= (p.Glu1093=) c.3251A= (p.Glu1084=) n.3829A= n.3831A= c.3599A= (p.Glu1200=) c.3368A= (p.Glu1123=) n.3614A= | |
| 11 | g.77189349A>C | CA381946828 | MYO7A | c.3509A>C (p.Glu1170Ala) c.1350A>C c.3476A>C (p.Glu1159Ala) c.1052A>C (p.Glu351Ala) n.36A>C n.1052A>C c.3419A>C (p.Glu1140Ala) c.3290A>C (p.Glu1097Ala) c.3278A>C (p.Glu1093Ala) c.3251A>C (p.Glu1084Ala) n.3829A>C n.3831A>C c.3599A>C (p.Glu1200Ala) c.3368A>C (p.Glu1123Ala) n.3614A>C | |
| 11 | g.77189349A>G | CA381946829 | MYO7A | c.3509A>G (p.Glu1170Gly) c.1350A>G c.3476A>G (p.Glu1159Gly) c.1052A>G (p.Glu351Gly) n.36A>G n.1052A>G c.3419A>G (p.Glu1140Gly) c.3290A>G (p.Glu1097Gly) c.3278A>G (p.Glu1093Gly) c.3251A>G (p.Glu1084Gly) n.3829A>G n.3831A>G c.3599A>G (p.Glu1200Gly) c.3368A>G (p.Glu1123Gly) n.3614A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77189349A>T | CA381946830 | MYO7A | c.3509A>T (p.Glu1170Val) c.1350A>T c.3476A>T (p.Glu1159Val) c.1052A>T (p.Glu351Val) n.36A>T n.1052A>T c.3419A>T (p.Glu1140Val) c.3290A>T (p.Glu1097Val) c.3278A>T (p.Glu1093Val) c.3251A>T (p.Glu1084Val) n.3829A>T n.3831A>T c.3599A>T (p.Glu1200Val) c.3368A>T (p.Glu1123Val) n.3614A>T | |
| 11 | g.77189350G>A | CA475795916 | MYO7A | c.3510G>A (p.Glu1170=) c.1351G>A c.3477G>A (p.Glu1159=) c.1053G>A (p.Glu351=) n.37G>A n.1053G>A c.3420G>A (p.Glu1140=) c.3291G>A (p.Glu1097=) c.3279G>A (p.Glu1093=) c.3252G>A (p.Glu1084=) n.3830G>A n.3832G>A c.3600G>A (p.Glu1200=) c.3369G>A (p.Glu1123=) n.3615G>A | |
| 11 | g.77189350G>C | CA381946831 | MYO7A | c.3510G>C (p.Glu1170Asp) c.1351G>C c.3477G>C (p.Glu1159Asp) c.1053G>C (p.Glu351Asp) n.37G>C n.1053G>C c.3420G>C (p.Glu1140Asp) c.3291G>C (p.Glu1097Asp) c.3279G>C (p.Glu1093Asp) c.3252G>C (p.Glu1084Asp) n.3830G>C n.3832G>C c.3600G>C (p.Glu1200Asp) c.3369G>C (p.Glu1123Asp) n.3615G>C | |
| 11 | g.77189350G>T | CA381946832 | MYO7A | c.3510G>T (p.Glu1170Asp) c.1351G>T c.3477G>T (p.Glu1159Asp) c.1053G>T (p.Glu351Asp) n.37G>T n.1053G>T c.3420G>T (p.Glu1140Asp) c.3291G>T (p.Glu1097Asp) c.3279G>T (p.Glu1093Asp) c.3252G>T (p.Glu1084Asp) n.3830G>T n.3832G>T c.3600G>T (p.Glu1200Asp) c.3369G>T (p.Glu1123Asp) n.3615G>T | gnomAD v4 COSMIC |
| 11 | g.77189351A>C | CA381946833 | MYO7A | c.3511A>C (p.Ile1171Leu) c.1352A>C c.3478A>C (p.Ile1160Leu) c.1054A>C (p.Ile352Leu) n.38A>C n.1054A>C c.3421A>C (p.Ile1141Leu) c.3292A>C (p.Ile1098Leu) c.3280A>C (p.Ile1094Leu) c.3253A>C (p.Ile1085Leu) n.3831A>C n.3833A>C c.3601A>C (p.Ile1201Leu) c.3370A>C (p.Ile1124Leu) n.3616A>C | |
| 11 | g.77189351A>G | CA381946834 | MYO7A | c.3511A>G (p.Ile1171Val) c.1352A>G c.3478A>G (p.Ile1160Val) c.1054A>G (p.Ile352Val) n.38A>G n.1054A>G c.3421A>G (p.Ile1141Val) c.3292A>G (p.Ile1098Val) c.3280A>G (p.Ile1094Val) c.3253A>G (p.Ile1085Val) n.3831A>G n.3833A>G c.3601A>G (p.Ile1201Val) c.3370A>G (p.Ile1124Val) n.3616A>G | |
| 11 | g.77189351A>T | CA381946835 | MYO7A | c.3511A>T (p.Ile1171Phe) c.1352A>T c.3478A>T (p.Ile1160Phe) c.1054A>T (p.Ile352Phe) n.38A>T n.1054A>T c.3421A>T (p.Ile1141Phe) c.3292A>T (p.Ile1098Phe) c.3280A>T (p.Ile1094Phe) c.3253A>T (p.Ile1085Phe) n.3831A>T n.3833A>T c.3601A>T (p.Ile1201Phe) c.3370A>T (p.Ile1124Phe) n.3616A>T | |
| 11 | g.77189352T>A | CA381946836 | MYO7A | c.3512T>A (p.Ile1171Asn) c.1353T>A c.3479T>A (p.Ile1160Asn) c.1055T>A (p.Ile352Asn) n.39T>A n.1055T>A c.3422T>A (p.Ile1141Asn) c.3293T>A (p.Ile1098Asn) c.3281T>A (p.Ile1094Asn) c.3254T>A (p.Ile1085Asn) n.3832T>A n.3834T>A c.3602T>A (p.Ile1201Asn) c.3371T>A (p.Ile1124Asn) n.3617T>A | |
| 11 | g.77189352T>C | CA381946837 | MYO7A | c.3512T>C (p.Ile1171Thr) c.1353T>C c.3479T>C (p.Ile1160Thr) c.1055T>C (p.Ile352Thr) n.39T>C n.1055T>C c.3422T>C (p.Ile1141Thr) c.3293T>C (p.Ile1098Thr) c.3281T>C (p.Ile1094Thr) c.3254T>C (p.Ile1085Thr) n.3832T>C n.3834T>C c.3602T>C (p.Ile1201Thr) c.3371T>C (p.Ile1124Thr) n.3617T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.77189352T>G | CA381946838 | MYO7A | c.3512T>G (p.Ile1171Ser) c.1353T>G c.3479T>G (p.Ile1160Ser) c.1055T>G (p.Ile352Ser) n.39T>G n.1055T>G c.3422T>G (p.Ile1141Ser) c.3293T>G (p.Ile1098Ser) c.3281T>G (p.Ile1094Ser) c.3254T>G (p.Ile1085Ser) n.3832T>G n.3834T>G c.3602T>G (p.Ile1201Ser) c.3371T>G (p.Ile1124Ser) n.3617T>G | |
| 11 | g.77189352T= | CA1984122359 | MYO7A | c.3512T= (p.Ile1171=) c.1353T= c.3479T= (p.Ile1160=) c.1055T= (p.Ile352=) n.39T= n.1055T= c.3422T= (p.Ile1141=) c.3293T= (p.Ile1098=) c.3281T= (p.Ile1094=) c.3254T= (p.Ile1085=) n.3832T= n.3834T= c.3602T= (p.Ile1201=) c.3371T= (p.Ile1124=) n.3617T= | |
| 11 | g.77189353C>A | CA475795917 | MYO7A | c.3513C>A (p.Ile1171=) c.1354C>A c.3480C>A (p.Ile1160=) c.1056C>A (p.Ile352=) n.40C>A n.1056C>A c.3423C>A (p.Ile1141=) c.3294C>A (p.Ile1098=) c.3282C>A (p.Ile1094=) c.3255C>A (p.Ile1085=) n.3833C>A n.3835C>A c.3603C>A (p.Ile1201=) c.3372C>A (p.Ile1124=) n.3618C>A | |
| 11 | g.77189353C>G | CA381946839 | MYO7A | c.3513C>G (p.Ile1171Met) c.1354C>G c.3480C>G (p.Ile1160Met) c.1056C>G (p.Ile352Met) n.40C>G n.1056C>G c.3423C>G (p.Ile1141Met) c.3294C>G (p.Ile1098Met) c.3282C>G (p.Ile1094Met) c.3255C>G (p.Ile1085Met) n.3833C>G n.3835C>G c.3603C>G (p.Ile1201Met) c.3372C>G (p.Ile1124Met) n.3618C>G | ClinVar gnomAD v4 |
| 11 | g.77189353C>T | CA475795918 | MYO7A | c.3513C>T (p.Ile1171=) c.1354C>T c.3480C>T (p.Ile1160=) c.1056C>T (p.Ile352=) n.40C>T n.1056C>T c.3423C>T (p.Ile1141=) c.3294C>T (p.Ile1098=) c.3282C>T (p.Ile1094=) c.3255C>T (p.Ile1085=) n.3833C>T n.3835C>T c.3603C>T (p.Ile1201=) c.3372C>T (p.Ile1124=) n.3618C>T | |
| 11 | g.77189354T>A | CA381946842 | MYO7A | c.3514T>A (p.Tyr1172Asn) c.1355T>A c.3481T>A (p.Tyr1161Asn) c.1057T>A (p.Tyr353Asn) n.41T>A n.1057T>A c.3424T>A (p.Tyr1142Asn) c.3295T>A (p.Tyr1099Asn) c.3283T>A (p.Tyr1095Asn) c.3256T>A (p.Tyr1086Asn) n.3834T>A n.3836T>A c.3604T>A (p.Tyr1202Asn) c.3373T>A (p.Tyr1125Asn) n.3619T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77189354T>C | CA381946841 | MYO7A | c.3514T>C (p.Tyr1172His) c.1355T>C c.3481T>C (p.Tyr1161His) c.1057T>C (p.Tyr353His) n.41T>C n.1057T>C c.3424T>C (p.Tyr1142His) c.3295T>C (p.Tyr1099His) c.3283T>C (p.Tyr1095His) c.3256T>C (p.Tyr1086His) n.3834T>C n.3836T>C c.3604T>C (p.Tyr1202His) c.3373T>C (p.Tyr1125His) n.3619T>C | |
| 11 | g.77189354T>G | CA381946840 | MYO7A | c.3514T>G (p.Tyr1172Asp) c.1355T>G c.3481T>G (p.Tyr1161Asp) c.1057T>G (p.Tyr353Asp) n.41T>G n.1057T>G c.3424T>G (p.Tyr1142Asp) c.3295T>G (p.Tyr1099Asp) c.3283T>G (p.Tyr1095Asp) c.3256T>G (p.Tyr1086Asp) n.3834T>G n.3836T>G c.3604T>G (p.Tyr1202Asp) c.3373T>G (p.Tyr1125Asp) n.3619T>G | |
| 11 | g.77189354T= | CA1984122360 | MYO7A | c.3514T= (p.Tyr1172=) c.1355T= c.3481T= (p.Tyr1161=) c.1057T= (p.Tyr353=) n.41T= n.1057T= c.3424T= (p.Tyr1142=) c.3295T= (p.Tyr1099=) c.3283T= (p.Tyr1095=) c.3256T= (p.Tyr1086=) n.3834T= n.3836T= c.3604T= (p.Tyr1202=) c.3373T= (p.Tyr1125=) n.3619T= | |
| 11 | g.77189355A= | CA1984122361 | MYO7A | c.3515A= (p.Tyr1172=) c.1356A= c.3482A= (p.Tyr1161=) c.1058A= (p.Tyr353=) n.42A= n.1058A= c.3425A= (p.Tyr1142=) c.3296A= (p.Tyr1099=) c.3284A= (p.Tyr1095=) c.3257A= (p.Tyr1086=) n.3835A= n.3837A= c.3605A= (p.Tyr1202=) c.3374A= (p.Tyr1125=) n.3620A= | |
| 11 | g.77189355A>C | CA381946843 | MYO7A | c.3515A>C (p.Tyr1172Ser) c.1356A>C c.3482A>C (p.Tyr1161Ser) c.1058A>C (p.Tyr353Ser) n.42A>C n.1058A>C c.3425A>C (p.Tyr1142Ser) c.3296A>C (p.Tyr1099Ser) c.3284A>C (p.Tyr1095Ser) c.3257A>C (p.Tyr1086Ser) n.3835A>C n.3837A>C c.3605A>C (p.Tyr1202Ser) c.3374A>C (p.Tyr1125Ser) n.3620A>C | dbSNP |
| 11 | g.77189355A>G | CA381946845 | MYO7A | c.3515A>G (p.Tyr1172Cys) c.1356A>G c.3482A>G (p.Tyr1161Cys) c.1058A>G (p.Tyr353Cys) n.42A>G n.1058A>G c.3425A>G (p.Tyr1142Cys) c.3296A>G (p.Tyr1099Cys) c.3284A>G (p.Tyr1095Cys) c.3257A>G (p.Tyr1086Cys) n.3835A>G n.3837A>G c.3605A>G (p.Tyr1202Cys) c.3374A>G (p.Tyr1125Cys) n.3620A>G | |
| 11 | g.77189355A>T | CA381946844 | MYO7A | c.3515A>T (p.Tyr1172Phe) c.1356A>T c.3482A>T (p.Tyr1161Phe) c.1058A>T (p.Tyr353Phe) n.42A>T n.1058A>T c.3425A>T (p.Tyr1142Phe) c.3296A>T (p.Tyr1099Phe) c.3284A>T (p.Tyr1095Phe) c.3257A>T (p.Tyr1086Phe) n.3835A>T n.3837A>T c.3605A>T (p.Tyr1202Phe) c.3374A>T (p.Tyr1125Phe) n.3620A>T | |
| 11 | g.77189356C>A | CA381946846 | MYO7A | c.3516C>A (p.Tyr1172Ter) c.1357C>A c.3483C>A (p.Tyr1161Ter) c.1059C>A (p.Tyr353Ter) n.43C>A n.1059C>A c.3426C>A (p.Tyr1142Ter) c.3297C>A (p.Tyr1099Ter) c.3285C>A (p.Tyr1095Ter) c.3258C>A (p.Tyr1086Ter) n.3836C>A n.3838C>A c.3606C>A (p.Tyr1202Ter) c.3375C>A (p.Tyr1125Ter) n.3621C>A | |
| 11 | g.77189356C>G | CA381946847 | MYO7A | c.3516C>G (p.Tyr1172Ter) c.1357C>G c.3483C>G (p.Tyr1161Ter) c.1059C>G (p.Tyr353Ter) n.43C>G n.1059C>G c.3426C>G (p.Tyr1142Ter) c.3297C>G (p.Tyr1099Ter) c.3285C>G (p.Tyr1095Ter) c.3258C>G (p.Tyr1086Ter) n.3836C>G n.3838C>G c.3606C>G (p.Tyr1202Ter) c.3375C>G (p.Tyr1125Ter) n.3621C>G | |
| 11 | g.77189356C>T | CA475795919 | MYO7A | c.3516C>T (p.Tyr1172=) c.1357C>T c.3483C>T (p.Tyr1161=) c.1059C>T (p.Tyr353=) n.43C>T n.1059C>T c.3426C>T (p.Tyr1142=) c.3297C>T (p.Tyr1099=) c.3285C>T (p.Tyr1095=) c.3258C>T (p.Tyr1086=) n.3836C>T n.3838C>T c.3606C>T (p.Tyr1202=) c.3375C>T (p.Tyr1125=) n.3621C>T | |
| 11 | g.77189357T>A | CA381946848 | MYO7A | c.3517T>A (p.Cys1173Ser) c.1358T>A c.3484T>A (p.Cys1162Ser) c.1060T>A (p.Cys354Ser) n.44T>A n.1060T>A c.3427T>A (p.Cys1143Ser) c.3298T>A (p.Cys1100Ser) c.3286T>A (p.Cys1096Ser) c.3259T>A (p.Cys1087Ser) n.3837T>A n.3839T>A c.3607T>A (p.Cys1203Ser) c.3376T>A (p.Cys1126Ser) n.3622T>A | |
| 11 | g.77189357T>C | CA381946849 | MYO7A | c.3517T>C (p.Cys1173Arg) c.1358T>C c.3484T>C (p.Cys1162Arg) c.1060T>C (p.Cys354Arg) n.44T>C n.1060T>C c.3427T>C (p.Cys1143Arg) c.3298T>C (p.Cys1100Arg) c.3286T>C (p.Cys1096Arg) c.3259T>C (p.Cys1087Arg) n.3837T>C n.3839T>C c.3607T>C (p.Cys1203Arg) c.3376T>C (p.Cys1126Arg) n.3622T>C | |
| 11 | g.77189357T>G | CA381946850 | MYO7A | c.3517T>G (p.Cys1173Gly) c.1358T>G c.3484T>G (p.Cys1162Gly) c.1060T>G (p.Cys354Gly) n.44T>G n.1060T>G c.3427T>G (p.Cys1143Gly) c.3298T>G (p.Cys1100Gly) c.3286T>G (p.Cys1096Gly) c.3259T>G (p.Cys1087Gly) n.3837T>G n.3839T>G c.3607T>G (p.Cys1203Gly) c.3376T>G (p.Cys1126Gly) n.3622T>G | |
| 11 | g.77189358G>A | CA381946851 | MYO7A | c.3518G>A (p.Cys1173Tyr) c.1359G>A c.3485G>A (p.Cys1162Tyr) c.1061G>A (p.Cys354Tyr) n.45G>A n.1061G>A c.3428G>A (p.Cys1143Tyr) c.3299G>A (p.Cys1100Tyr) c.3287G>A (p.Cys1096Tyr) c.3260G>A (p.Cys1087Tyr) n.3838G>A n.3840G>A c.3608G>A (p.Cys1203Tyr) c.3377G>A (p.Cys1126Tyr) n.3623G>A | |
| 11 | g.77189358G>C | CA381946852 | MYO7A | c.3518G>C (p.Cys1173Ser) c.1359G>C c.3485G>C (p.Cys1162Ser) c.1061G>C (p.Cys354Ser) n.45G>C n.1061G>C c.3428G>C (p.Cys1143Ser) c.3299G>C (p.Cys1100Ser) c.3287G>C (p.Cys1096Ser) c.3260G>C (p.Cys1087Ser) n.3838G>C n.3840G>C c.3608G>C (p.Cys1203Ser) c.3377G>C (p.Cys1126Ser) n.3623G>C | |
| 11 | g.77189358G= | CA1984122364 | MYO7A | c.3518G= (p.Cys1173=) c.1359G= c.3485G= (p.Cys1162=) c.1061G= (p.Cys354=) n.45G= n.1061G= c.3428G= (p.Cys1143=) c.3299G= (p.Cys1100=) c.3287G= (p.Cys1096=) c.3260G= (p.Cys1087=) n.3838G= n.3840G= c.3608G= (p.Cys1203=) c.3377G= (p.Cys1126=) n.3623G= | |
| 11 | g.77189358G>T | CA6198104 | MYO7A | c.3518G>T (p.Cys1173Phe) c.1359G>T c.3485G>T (p.Cys1162Phe) c.1061G>T (p.Cys354Phe) n.45G>T n.1061G>T c.3428G>T (p.Cys1143Phe) c.3299G>T (p.Cys1100Phe) c.3287G>T (p.Cys1096Phe) c.3260G>T (p.Cys1087Phe) n.3838G>T n.3840G>T c.3608G>T (p.Cys1203Phe) c.3377G>T (p.Cys1126Phe) n.3623G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77189359C>A | CA381946853 | MYO7A | c.3519C>A (p.Cys1173Ter) c.1360C>A c.3486C>A (p.Cys1162Ter) c.1062C>A (p.Cys354Ter) n.46C>A n.1062C>A c.3429C>A (p.Cys1143Ter) c.3300C>A (p.Cys1100Ter) c.3288C>A (p.Cys1096Ter) c.3261C>A (p.Cys1087Ter) n.3839C>A n.3841C>A c.3609C>A (p.Cys1203Ter) c.3378C>A (p.Cys1126Ter) n.3624C>A | |
| 11 | g.77189359C= | CA1984122370 | MYO7A | c.3519C= (p.Cys1173=) c.1360C= c.3486C= (p.Cys1162=) c.1062C= (p.Cys354=) n.46C= n.1062C= c.3429C= (p.Cys1143=) c.3300C= (p.Cys1100=) c.3288C= (p.Cys1096=) c.3261C= (p.Cys1087=) n.3839C= n.3841C= c.3609C= (p.Cys1203=) c.3378C= (p.Cys1126=) n.3624C= | |
| 11 | g.77189359C>G | CA6198105 | MYO7A | c.3519C>G (p.Cys1173Trp) c.1360C>G c.3486C>G (p.Cys1162Trp) c.1062C>G (p.Cys354Trp) n.46C>G n.1062C>G c.3429C>G (p.Cys1143Trp) c.3300C>G (p.Cys1100Trp) c.3288C>G (p.Cys1096Trp) c.3261C>G (p.Cys1087Trp) n.3839C>G n.3841C>G c.3609C>G (p.Cys1203Trp) c.3378C>G (p.Cys1126Trp) n.3624C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77189359C>T | CA475795920 | MYO7A | c.3519C>T (p.Cys1173=) c.1360C>T c.3486C>T (p.Cys1162=) c.1062C>T (p.Cys354=) n.46C>T n.1062C>T c.3429C>T (p.Cys1143=) c.3300C>T (p.Cys1100=) c.3288C>T (p.Cys1096=) c.3261C>T (p.Cys1087=) n.3839C>T n.3841C>T c.3609C>T (p.Cys1203=) c.3378C>T (p.Cys1126=) n.3624C>T | |
| 11 | g.77189360C>A | CA381946854 | MYO7A | c.3520C>A (p.Gln1174Lys) c.1361C>A c.3487C>A (p.Gln1163Lys) c.1063C>A (p.Gln355Lys) n.47C>A n.1063C>A c.3430C>A (p.Gln1144Lys) c.3301C>A (p.Gln1101Lys) c.3289C>A (p.Gln1097Lys) c.3262C>A (p.Gln1088Lys) n.3840C>A n.3842C>A c.3610C>A (p.Gln1204Lys) c.3379C>A (p.Gln1127Lys) n.3625C>A | |
| 11 | g.77189360C>G | CA381946855 | MYO7A | c.3520C>G (p.Gln1174Glu) c.1361C>G c.3487C>G (p.Gln1163Glu) c.1063C>G (p.Gln355Glu) n.47C>G n.1063C>G c.3430C>G (p.Gln1144Glu) c.3301C>G (p.Gln1101Glu) c.3289C>G (p.Gln1097Glu) c.3262C>G (p.Gln1088Glu) n.3840C>G n.3842C>G c.3610C>G (p.Gln1204Glu) c.3379C>G (p.Gln1127Glu) n.3625C>G | |
| 11 | g.77189360C>T | CA381946856 | MYO7A | c.3520C>T (p.Gln1174Ter) c.1361C>T c.3487C>T (p.Gln1163Ter) c.1063C>T (p.Gln355Ter) n.47C>T n.1063C>T c.3430C>T (p.Gln1144Ter) c.3301C>T (p.Gln1101Ter) c.3289C>T (p.Gln1097Ter) c.3262C>T (p.Gln1088Ter) n.3840C>T n.3842C>T c.3610C>T (p.Gln1204Ter) c.3379C>T (p.Gln1127Ter) n.3625C>T | |
| 11 | g.77189363_77189374del | CA2695214996 | MYO7A | c.3523_3534del (p.Ile1175_Gln1178del) c.1364_1375del c.3490_3501del (p.Ile1164_Gln1167del) c.1066_1077del (p.Ile356_Gln359del) n.50_61del n.1066_1077del c.3433_3444del (p.Ile1145_Gln1148del) c.3304_3315del (p.Ile1102_Gln1105del) c.3292_3303del (p.Ile1098_Gln1101del) c.3265_3276del (p.Ile1089_Gln1092del) n.3843_3854del n.3845_3856del c.3613_3624del (p.Ile1205_Gln1208del) c.3382_3393del (p.Ile1128_Gln1131del) n.3628_3639del | |
| 11 | g.77189361A>C | CA381946857 | MYO7A | c.3521A>C (p.Gln1174Pro) c.1362A>C c.3488A>C (p.Gln1163Pro) c.1064A>C (p.Gln355Pro) n.48A>C n.1064A>C c.3431A>C (p.Gln1144Pro) c.3302A>C (p.Gln1101Pro) c.3290A>C (p.Gln1097Pro) c.3263A>C (p.Gln1088Pro) n.3841A>C n.3843A>C c.3611A>C (p.Gln1204Pro) c.3380A>C (p.Gln1127Pro) n.3626A>C | gnomAD v4 |
| 11 | g.77189361A>G | CA381946859 | MYO7A | c.3521A>G (p.Gln1174Arg) c.1362A>G c.3488A>G (p.Gln1163Arg) c.1064A>G (p.Gln355Arg) n.48A>G n.1064A>G c.3431A>G (p.Gln1144Arg) c.3302A>G (p.Gln1101Arg) c.3290A>G (p.Gln1097Arg) c.3263A>G (p.Gln1088Arg) n.3841A>G n.3843A>G c.3611A>G (p.Gln1204Arg) c.3380A>G (p.Gln1127Arg) n.3626A>G | |
| 11 | g.77189361A>T | CA381946858 | MYO7A | c.3521A>T (p.Gln1174Leu) c.1362A>T c.3488A>T (p.Gln1163Leu) c.1064A>T (p.Gln355Leu) n.48A>T n.1064A>T c.3431A>T (p.Gln1144Leu) c.3302A>T (p.Gln1101Leu) c.3290A>T (p.Gln1097Leu) c.3263A>T (p.Gln1088Leu) n.3841A>T n.3843A>T c.3611A>T (p.Gln1204Leu) c.3380A>T (p.Gln1127Leu) n.3626A>T |