Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77189343G>A | CA381946815 | MYO7A | c.3504-1G>A (n.3504-1G>A) c.1345-1G>A c.3471-1G>A (n.3471-1G>A) c.1047-1G>A (n.1047-1G>A) n.31-1G>A n.1047-1G>A c.3414-1G>A (n.3414-1G>A) c.3285-1G>A (n.3285-1G>A) c.3273-1G>A (n.3273-1G>A) c.3246-1G>A (n.3246-1G>A) n.3824-1G>A n.3826-1G>A c.3594-1G>A (n.3594-1G>A) c.3363-1G>A (n.3363-1G>A) n.3609-1G>A | ClinVar |
11 | g.77189343G>C | CA381946816 | MYO7A | c.3504-1G>C (n.3504-1G>C) c.1345-1G>C c.3471-1G>C (n.3471-1G>C) c.1047-1G>C (n.1047-1G>C) n.31-1G>C n.1047-1G>C c.3414-1G>C (n.3414-1G>C) c.3285-1G>C (n.3285-1G>C) c.3273-1G>C (n.3273-1G>C) c.3246-1G>C (n.3246-1G>C) n.3824-1G>C n.3826-1G>C c.3594-1G>C (n.3594-1G>C) c.3363-1G>C (n.3363-1G>C) n.3609-1G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189343G= | CA1984122339 | MYO7A | c.3504-1G= (n.3504-1G=) c.1345-1G= c.3471-1G= (n.3471-1G=) c.1047-1G= (n.1047-1G=) n.31-1G= n.1047-1G= c.3414-1G= (n.3414-1G=) c.3285-1G= (n.3285-1G=) c.3273-1G= (n.3273-1G=) c.3246-1G= (n.3246-1G=) n.3824-1G= n.3826-1G= c.3594-1G= (n.3594-1G=) c.3363-1G= (n.3363-1G=) n.3609-1G= | |
11 | g.77189343G>T | CA381946817 | MYO7A | c.3504-1G>T (n.3504-1G>T) c.1345-1G>T c.3471-1G>T (n.3471-1G>T) c.1047-1G>T (n.1047-1G>T) n.31-1G>T n.1047-1G>T c.3414-1G>T (n.3414-1G>T) c.3285-1G>T (n.3285-1G>T) c.3273-1G>T (n.3273-1G>T) c.3246-1G>T (n.3246-1G>T) n.3824-1G>T n.3826-1G>T c.3594-1G>T (n.3594-1G>T) c.3363-1G>T (n.3363-1G>T) n.3609-1G>T | |
11 | g.77189345del | CA2574931173 | MYO7A | c.3505del c.1346del c.3472del c.1048del n.32del n.1048del c.3415del c.3286del c.3274del c.3247del n.3825del n.3827del c.3595del c.3364del n.3610del | |
11 | g.77189344G>A | CA475795913 | MYO7A | c.3504G>A (p.Arg1168=) c.1345G>A c.3471G>A (p.Arg1157=) c.1047G>A (p.Arg349=) n.31G>A n.1047G>A c.3414G>A (p.Arg1138=) c.3285G>A (p.Arg1095=) c.3273G>A (p.Arg1091=) c.3246G>A (p.Arg1082=) n.3824G>A n.3826G>A c.3594G>A (p.Arg1198=) c.3363G>A (p.Arg1121=) n.3609G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77189344G>C | CA475795914 | MYO7A | c.3504G>C (p.Arg1168=) c.1345G>C c.3471G>C (p.Arg1157=) c.1047G>C (p.Arg349=) n.31G>C n.1047G>C c.3414G>C (p.Arg1138=) c.3285G>C (p.Arg1095=) c.3273G>C (p.Arg1091=) c.3246G>C (p.Arg1082=) n.3824G>C n.3826G>C c.3594G>C (p.Arg1198=) c.3363G>C (p.Arg1121=) n.3609G>C | |
11 | g.77189344G= | CA1984122342 | MYO7A | c.3504G= (p.Arg1168=) c.1345G= c.3471G= (p.Arg1157=) c.1047G= (p.Arg349=) n.31G= n.1047G= c.3414G= (p.Arg1138=) c.3285G= (p.Arg1095=) c.3273G= (p.Arg1091=) c.3246G= (p.Arg1082=) n.3824G= n.3826G= c.3594G= (p.Arg1198=) c.3363G= (p.Arg1121=) n.3609G= | |
11 | g.77189344G>T | CA475795915 | MYO7A | c.3504G>T (p.Arg1168=) c.1345G>T c.3471G>T (p.Arg1157=) c.1047G>T (p.Arg349=) n.31G>T n.1047G>T c.3414G>T (p.Arg1138=) c.3285G>T (p.Arg1095=) c.3273G>T (p.Arg1091=) c.3246G>T (p.Arg1082=) n.3824G>T n.3826G>T c.3594G>T (p.Arg1198=) c.3363G>T (p.Arg1121=) n.3609G>T | gnomAD v4 |
11 | g.77189345G>A | CA381946818 | MYO7A | c.3505G>A (p.Asp1169Asn) c.1346G>A c.3472G>A (p.Asp1158Asn) c.1048G>A (p.Asp350Asn) n.32G>A n.1048G>A c.3415G>A (p.Asp1139Asn) c.3286G>A (p.Asp1096Asn) c.3274G>A (p.Asp1092Asn) c.3247G>A (p.Asp1083Asn) n.3825G>A n.3827G>A c.3595G>A (p.Asp1199Asn) c.3364G>A (p.Asp1122Asn) n.3610G>A | dbSNP |
11 | g.77189345G>C | CA381946819 | MYO7A | c.3505G>C (p.Asp1169His) c.1346G>C c.3472G>C (p.Asp1158His) c.1048G>C (p.Asp350His) n.32G>C n.1048G>C c.3415G>C (p.Asp1139His) c.3286G>C (p.Asp1096His) c.3274G>C (p.Asp1092His) c.3247G>C (p.Asp1083His) n.3825G>C n.3827G>C c.3595G>C (p.Asp1199His) c.3364G>C (p.Asp1122His) n.3610G>C | |
11 | g.77189345G= | CA1984122345 | MYO7A | c.3505G= (p.Asp1169=) c.1346G= c.3472G= (p.Asp1158=) c.1048G= (p.Asp350=) n.32G= n.1048G= c.3415G= (p.Asp1139=) c.3286G= (p.Asp1096=) c.3274G= (p.Asp1092=) c.3247G= (p.Asp1083=) n.3825G= n.3827G= c.3595G= (p.Asp1199=) c.3364G= (p.Asp1122=) n.3610G= | |
11 | g.77189345G>T | CA381946820 | MYO7A | c.3505G>T (p.Asp1169Tyr) c.1346G>T c.3472G>T (p.Asp1158Tyr) c.1048G>T (p.Asp350Tyr) n.32G>T n.1048G>T c.3415G>T (p.Asp1139Tyr) c.3286G>T (p.Asp1096Tyr) c.3274G>T (p.Asp1092Tyr) c.3247G>T (p.Asp1083Tyr) n.3825G>T n.3827G>T c.3595G>T (p.Asp1199Tyr) c.3364G>T (p.Asp1122Tyr) n.3610G>T | |
11 | g.77189345_77189346delinsCT | CA2573147732 | MYO7A | c.3505_3506delinsCT (p.Asp1169Leu) c.1346_1347delinsCT c.3472_3473delinsCT (p.Asp1158Leu) c.1048_1049delinsCT (p.Asp350Leu) n.32_33delinsCT n.1048_1049delinsCT c.3415_3416delinsCT (p.Asp1139Leu) c.3286_3287delinsCT (p.Asp1096Leu) c.3274_3275delinsCT (p.Asp1092Leu) c.3247_3248delinsCT (p.Asp1083Leu) n.3825_3826delinsCT n.3827_3828delinsCT c.3595_3596delinsCT (p.Asp1199Leu) c.3364_3365delinsCT (p.Asp1122Leu) n.3610_3611delinsCT | ClinVar dbSNP |
11 | g.77189346A>C | CA381946821 | MYO7A | c.3506A>C (p.Asp1169Ala) c.1347A>C c.3473A>C (p.Asp1158Ala) c.1049A>C (p.Asp350Ala) n.33A>C n.1049A>C c.3416A>C (p.Asp1139Ala) c.3287A>C (p.Asp1096Ala) c.3275A>C (p.Asp1092Ala) c.3248A>C (p.Asp1083Ala) n.3826A>C n.3828A>C c.3596A>C (p.Asp1199Ala) c.3365A>C (p.Asp1122Ala) n.3611A>C | |
11 | g.77189346A>G | CA381946822 | MYO7A | c.3506A>G (p.Asp1169Gly) c.1347A>G c.3473A>G (p.Asp1158Gly) c.1049A>G (p.Asp350Gly) n.33A>G n.1049A>G c.3416A>G (p.Asp1139Gly) c.3287A>G (p.Asp1096Gly) c.3275A>G (p.Asp1092Gly) c.3248A>G (p.Asp1083Gly) n.3826A>G n.3828A>G c.3596A>G (p.Asp1199Gly) c.3365A>G (p.Asp1122Gly) n.3611A>G | |
11 | g.77189346A>T | CA381946823 | MYO7A | c.3506A>T (p.Asp1169Val) c.1347A>T c.3473A>T (p.Asp1158Val) c.1049A>T (p.Asp350Val) n.33A>T n.1049A>T c.3416A>T (p.Asp1139Val) c.3287A>T (p.Asp1096Val) c.3275A>T (p.Asp1092Val) c.3248A>T (p.Asp1083Val) n.3826A>T n.3828A>T c.3596A>T (p.Asp1199Val) c.3365A>T (p.Asp1122Val) n.3611A>T | |
11 | g.77189347C>A | CA381946824 | MYO7A | c.3507C>A (p.Asp1169Glu) c.1348C>A c.3474C>A (p.Asp1158Glu) c.1050C>A (p.Asp350Glu) n.34C>A n.1050C>A c.3417C>A (p.Asp1139Glu) c.3288C>A (p.Asp1096Glu) c.3276C>A (p.Asp1092Glu) c.3249C>A (p.Asp1083Glu) n.3827C>A n.3829C>A c.3597C>A (p.Asp1199Glu) c.3366C>A (p.Asp1122Glu) n.3612C>A | |
11 | g.77189347C= | CA1984122348 | MYO7A | c.3507C= (p.Asp1169=) c.1348C= c.3474C= (p.Asp1158=) c.1050C= (p.Asp350=) n.34C= n.1050C= c.3417C= (p.Asp1139=) c.3288C= (p.Asp1096=) c.3276C= (p.Asp1092=) c.3249C= (p.Asp1083=) n.3827C= n.3829C= c.3597C= (p.Asp1199=) c.3366C= (p.Asp1122=) n.3612C= | |
11 | g.77189347C>G | CA381946825 | MYO7A | c.3507C>G (p.Asp1169Glu) c.1348C>G c.3474C>G (p.Asp1158Glu) c.1050C>G (p.Asp350Glu) n.34C>G n.1050C>G c.3417C>G (p.Asp1139Glu) c.3288C>G (p.Asp1096Glu) c.3276C>G (p.Asp1092Glu) c.3249C>G (p.Asp1083Glu) n.3827C>G n.3829C>G c.3597C>G (p.Asp1199Glu) c.3366C>G (p.Asp1122Glu) n.3612C>G | |
11 | g.77189347C>T | CA6198103 | MYO7A | c.3507C>T (p.Asp1169=) c.1348C>T c.3474C>T (p.Asp1158=) c.1050C>T (p.Asp350=) n.34C>T n.1050C>T c.3417C>T (p.Asp1139=) c.3288C>T (p.Asp1096=) c.3276C>T (p.Asp1092=) c.3249C>T (p.Asp1083=) n.3827C>T n.3829C>T c.3597C>T (p.Asp1199=) c.3366C>T (p.Asp1122=) n.3612C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 | |
11 | g.77189362G>A | CA6198106 | MYO7A | c.3522G>A (p.Gln1174=) c.1363G>A c.3489G>A (p.Gln1163=) c.1065G>A (p.Gln355=) n.49G>A n.1065G>A c.3432G>A (p.Gln1144=) c.3303G>A (p.Gln1101=) c.3291G>A (p.Gln1097=) c.3264G>A (p.Gln1088=) n.3842G>A n.3844G>A c.3612G>A (p.Gln1204=) c.3381G>A (p.Gln1127=) n.3627G>A | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.77189362G>C | CA381946860 | MYO7A | c.3522G>C (p.Gln1174His) c.1363G>C c.3489G>C (p.Gln1163His) c.1065G>C (p.Gln355His) n.49G>C n.1065G>C c.3432G>C (p.Gln1144His) c.3303G>C (p.Gln1101His) c.3291G>C (p.Gln1097His) c.3264G>C (p.Gln1088His) n.3842G>C n.3844G>C c.3612G>C (p.Gln1204His) c.3381G>C (p.Gln1127His) n.3627G>C | |
11 | g.77189362G= | CA1984122376 | MYO7A | c.3522G= (p.Gln1174=) c.1363G= c.3489G= (p.Gln1163=) c.1065G= (p.Gln355=) n.49G= n.1065G= c.3432G= (p.Gln1144=) c.3303G= (p.Gln1101=) c.3291G= (p.Gln1097=) c.3264G= (p.Gln1088=) n.3842G= n.3844G= c.3612G= (p.Gln1204=) c.3381G= (p.Gln1127=) n.3627G= | |
11 | g.77189362G>T | CA381946861 | MYO7A | c.3522G>T (p.Gln1174His) c.1363G>T c.3489G>T (p.Gln1163His) c.1065G>T (p.Gln355His) n.49G>T n.1065G>T c.3432G>T (p.Gln1144His) c.3303G>T (p.Gln1101His) c.3291G>T (p.Gln1097His) c.3264G>T (p.Gln1088His) n.3842G>T n.3844G>T c.3612G>T (p.Gln1204His) c.3381G>T (p.Gln1127His) n.3627G>T | ClinVar |
11 | g.77189363A>C | CA381946862 | MYO7A | c.3523A>C (p.Ile1175Leu) c.1364A>C c.3490A>C (p.Ile1164Leu) c.1066A>C (p.Ile356Leu) n.50A>C n.1066A>C c.3433A>C (p.Ile1145Leu) c.3304A>C (p.Ile1102Leu) c.3292A>C (p.Ile1098Leu) c.3265A>C (p.Ile1089Leu) n.3843A>C n.3845A>C c.3613A>C (p.Ile1205Leu) c.3382A>C (p.Ile1128Leu) n.3628A>C | |
11 | g.77189363A>G | CA381946863 | MYO7A | c.3523A>G (p.Ile1175Val) c.1364A>G c.3490A>G (p.Ile1164Val) c.1066A>G (p.Ile356Val) n.50A>G n.1066A>G c.3433A>G (p.Ile1145Val) c.3304A>G (p.Ile1102Val) c.3292A>G (p.Ile1098Val) c.3265A>G (p.Ile1089Val) n.3843A>G n.3845A>G c.3613A>G (p.Ile1205Val) c.3382A>G (p.Ile1128Val) n.3628A>G | |
11 | g.77189363A>T | CA381946864 | MYO7A | c.3523A>T (p.Ile1175Phe) c.1364A>T c.3490A>T (p.Ile1164Phe) c.1066A>T (p.Ile356Phe) n.50A>T n.1066A>T c.3433A>T (p.Ile1145Phe) c.3304A>T (p.Ile1102Phe) c.3292A>T (p.Ile1098Phe) c.3265A>T (p.Ile1089Phe) n.3843A>T n.3845A>T c.3613A>T (p.Ile1205Phe) c.3382A>T (p.Ile1128Phe) n.3628A>T | |
11 | g.77189364T>A | CA381946865 | MYO7A | c.3524T>A (p.Ile1175Asn) c.1365T>A c.3491T>A (p.Ile1164Asn) c.1067T>A (p.Ile356Asn) n.51T>A n.1067T>A c.3434T>A (p.Ile1145Asn) c.3305T>A (p.Ile1102Asn) c.3293T>A (p.Ile1098Asn) c.3266T>A (p.Ile1089Asn) n.3844T>A n.3846T>A c.3614T>A (p.Ile1205Asn) c.3383T>A (p.Ile1128Asn) n.3629T>A | |
11 | g.77189364T>C | CA381946866 | MYO7A | c.3524T>C (p.Ile1175Thr) c.1365T>C c.3491T>C (p.Ile1164Thr) c.1067T>C (p.Ile356Thr) n.51T>C n.1067T>C c.3434T>C (p.Ile1145Thr) c.3305T>C (p.Ile1102Thr) c.3293T>C (p.Ile1098Thr) c.3266T>C (p.Ile1089Thr) n.3844T>C n.3846T>C c.3614T>C (p.Ile1205Thr) c.3383T>C (p.Ile1128Thr) n.3629T>C | |
11 | g.77189364T>G | CA381946867 | MYO7A | c.3524T>G (p.Ile1175Ser) c.1365T>G c.3491T>G (p.Ile1164Ser) c.1067T>G (p.Ile356Ser) n.51T>G n.1067T>G c.3434T>G (p.Ile1145Ser) c.3305T>G (p.Ile1102Ser) c.3293T>G (p.Ile1098Ser) c.3266T>G (p.Ile1089Ser) n.3844T>G n.3846T>G c.3614T>G (p.Ile1205Ser) c.3383T>G (p.Ile1128Ser) n.3629T>G | |
11 | g.77189365C>A | CA475795921 | MYO7A | c.3525C>A (p.Ile1175=) c.1366C>A c.3492C>A (p.Ile1164=) c.1068C>A (p.Ile356=) n.52C>A n.1068C>A c.3435C>A (p.Ile1145=) c.3306C>A (p.Ile1102=) c.3294C>A (p.Ile1098=) c.3267C>A (p.Ile1089=) n.3845C>A n.3847C>A c.3615C>A (p.Ile1205=) c.3384C>A (p.Ile1128=) n.3630C>A | |
11 | g.77189365C>G | CA381946868 | MYO7A | c.3525C>G (p.Ile1175Met) c.1366C>G c.3492C>G (p.Ile1164Met) c.1068C>G (p.Ile356Met) n.52C>G n.1068C>G c.3435C>G (p.Ile1145Met) c.3306C>G (p.Ile1102Met) c.3294C>G (p.Ile1098Met) c.3267C>G (p.Ile1089Met) n.3845C>G n.3847C>G c.3615C>G (p.Ile1205Met) c.3384C>G (p.Ile1128Met) n.3630C>G | |
11 | g.77189365C>T | CA475795922 | MYO7A | c.3525C>T (p.Ile1175=) c.1366C>T c.3492C>T (p.Ile1164=) c.1068C>T (p.Ile356=) n.52C>T n.1068C>T c.3435C>T (p.Ile1145=) c.3306C>T (p.Ile1102=) c.3294C>T (p.Ile1098=) c.3267C>T (p.Ile1089=) n.3845C>T n.3847C>T c.3615C>T (p.Ile1205=) c.3384C>T (p.Ile1128=) n.3630C>T | |
11 | g.77189366A>C | CA381946871 | MYO7A | c.3526A>C (p.Ser1176Arg) c.1367A>C c.3493A>C (p.Ser1165Arg) c.1069A>C (p.Ser357Arg) n.53A>C n.1069A>C c.3436A>C (p.Ser1146Arg) c.3307A>C (p.Ser1103Arg) c.3295A>C (p.Ser1099Arg) c.3268A>C (p.Ser1090Arg) n.3846A>C n.3848A>C c.3616A>C (p.Ser1206Arg) c.3385A>C (p.Ser1129Arg) n.3631A>C | |
11 | g.77189366A>G | CA381946870 | MYO7A | c.3526A>G (p.Ser1176Gly) c.1367A>G c.3493A>G (p.Ser1165Gly) c.1069A>G (p.Ser357Gly) n.53A>G n.1069A>G c.3436A>G (p.Ser1146Gly) c.3307A>G (p.Ser1103Gly) c.3295A>G (p.Ser1099Gly) c.3268A>G (p.Ser1090Gly) n.3846A>G n.3848A>G c.3616A>G (p.Ser1206Gly) c.3385A>G (p.Ser1129Gly) n.3631A>G | |
11 | g.77189366A>T | CA381946869 | MYO7A | c.3526A>T (p.Ser1176Cys) c.1367A>T c.3493A>T (p.Ser1165Cys) c.1069A>T (p.Ser357Cys) n.53A>T n.1069A>T c.3436A>T (p.Ser1146Cys) c.3307A>T (p.Ser1103Cys) c.3295A>T (p.Ser1099Cys) c.3268A>T (p.Ser1090Cys) n.3846A>T n.3848A>T c.3616A>T (p.Ser1206Cys) c.3385A>T (p.Ser1129Cys) n.3631A>T | |
11 | g.77189367G>A | CA242907 | MYO7A | c.3527G>A (p.Ser1176Asn) c.1368G>A c.3494G>A (p.Ser1165Asn) c.1070G>A (p.Ser357Asn) n.54G>A n.1070G>A c.3437G>A (p.Ser1146Asn) c.3308G>A (p.Ser1103Asn) c.3296G>A (p.Ser1099Asn) c.3269G>A (p.Ser1090Asn) n.3847G>A n.3849G>A c.3617G>A (p.Ser1206Asn) c.3386G>A (p.Ser1129Asn) n.3632G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189367G>C | CA381946872 | MYO7A | c.3527G>C (p.Ser1176Thr) c.1368G>C c.3494G>C (p.Ser1165Thr) c.1070G>C (p.Ser357Thr) n.54G>C n.1070G>C c.3437G>C (p.Ser1146Thr) c.3308G>C (p.Ser1103Thr) c.3296G>C (p.Ser1099Thr) c.3269G>C (p.Ser1090Thr) n.3847G>C n.3849G>C c.3617G>C (p.Ser1206Thr) c.3386G>C (p.Ser1129Thr) n.3632G>C | |
11 | g.77189367G= | CA1984122388 | MYO7A | c.3527G= (p.Ser1176=) c.1368G= c.3494G= (p.Ser1165=) c.1070G= (p.Ser357=) n.54G= n.1070G= c.3437G= (p.Ser1146=) c.3308G= (p.Ser1103=) c.3296G= (p.Ser1099=) c.3269G= (p.Ser1090=) n.3847G= n.3849G= c.3617G= (p.Ser1206=) c.3386G= (p.Ser1129=) n.3632G= | |
11 | g.77189367G>T | CA381946873 | MYO7A | c.3527G>T (p.Ser1176Ile) c.1368G>T c.3494G>T (p.Ser1165Ile) c.1070G>T (p.Ser357Ile) n.54G>T n.1070G>T c.3437G>T (p.Ser1146Ile) c.3308G>T (p.Ser1103Ile) c.3296G>T (p.Ser1099Ile) c.3269G>T (p.Ser1090Ile) n.3847G>T n.3849G>T c.3617G>T (p.Ser1206Ile) c.3386G>T (p.Ser1129Ile) n.3632G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77189368C>A | CA381946874 | MYO7A | c.3528C>A (p.Ser1176Arg) c.1369C>A c.3495C>A (p.Ser1165Arg) c.1071C>A (p.Ser357Arg) n.55C>A n.1071C>A c.3438C>A (p.Ser1146Arg) c.3309C>A (p.Ser1103Arg) c.3297C>A (p.Ser1099Arg) c.3270C>A (p.Ser1090Arg) n.3848C>A n.3850C>A c.3618C>A (p.Ser1206Arg) c.3387C>A (p.Ser1129Arg) n.3633C>A | dbSNP |
11 | g.77189368C= | CA1984122391 | MYO7A | c.3528C= (p.Ser1176=) c.1369C= c.3495C= (p.Ser1165=) c.1071C= (p.Ser357=) n.55C= n.1071C= c.3438C= (p.Ser1146=) c.3309C= (p.Ser1103=) c.3297C= (p.Ser1099=) c.3270C= (p.Ser1090=) n.3848C= n.3850C= c.3618C= (p.Ser1206=) c.3387C= (p.Ser1129=) n.3633C= | |
11 | g.77189368C>G | CA381946875 | MYO7A | c.3528C>G (p.Ser1176Arg) c.1369C>G c.3495C>G (p.Ser1165Arg) c.1071C>G (p.Ser357Arg) n.55C>G n.1071C>G c.3438C>G (p.Ser1146Arg) c.3309C>G (p.Ser1103Arg) c.3297C>G (p.Ser1099Arg) c.3270C>G (p.Ser1090Arg) n.3848C>G n.3850C>G c.3618C>G (p.Ser1206Arg) c.3387C>G (p.Ser1129Arg) n.3633C>G | gnomAD v4 |
11 | g.77189368C>T | CA475795923 | MYO7A | c.3528C>T (p.Ser1176=) c.1369C>T c.3495C>T (p.Ser1165=) c.1071C>T (p.Ser357=) n.55C>T n.1071C>T c.3438C>T (p.Ser1146=) c.3309C>T (p.Ser1103=) c.3297C>T (p.Ser1099=) c.3270C>T (p.Ser1090=) n.3848C>T n.3850C>T c.3618C>T (p.Ser1206=) c.3387C>T (p.Ser1129=) n.3633C>T | ClinVar gnomAD v4 |
11 | g.77189369A>C | CA381946876 | MYO7A | c.3529A>C (p.Lys1177Gln) c.1370A>C c.3496A>C (p.Lys1166Gln) c.1072A>C (p.Lys358Gln) n.56A>C n.1072A>C c.3439A>C (p.Lys1147Gln) c.3310A>C (p.Lys1104Gln) c.3298A>C (p.Lys1100Gln) c.3271A>C (p.Lys1091Gln) n.3849A>C n.3851A>C c.3619A>C (p.Lys1207Gln) c.3388A>C (p.Lys1130Gln) n.3634A>C | |
11 | g.77189369A>G | CA381946877 | MYO7A | c.3529A>G (p.Lys1177Glu) c.1370A>G c.3496A>G (p.Lys1166Glu) c.1072A>G (p.Lys358Glu) n.56A>G n.1072A>G c.3439A>G (p.Lys1147Glu) c.3310A>G (p.Lys1104Glu) c.3298A>G (p.Lys1100Glu) c.3271A>G (p.Lys1091Glu) n.3849A>G n.3851A>G c.3619A>G (p.Lys1207Glu) c.3388A>G (p.Lys1130Glu) n.3634A>G | |
11 | g.77189369A>T | CA381946878 | MYO7A | c.3529A>T (p.Lys1177Ter) c.1370A>T c.3496A>T (p.Lys1166Ter) c.1072A>T (p.Lys358Ter) n.56A>T n.1072A>T c.3439A>T (p.Lys1147Ter) c.3310A>T (p.Lys1104Ter) c.3298A>T (p.Lys1100Ter) c.3271A>T (p.Lys1091Ter) n.3849A>T n.3851A>T c.3619A>T (p.Lys1207Ter) c.3388A>T (p.Lys1130Ter) n.3634A>T | |
11 | g.77189370A>C | CA381946879 | MYO7A | c.3530A>C (p.Lys1177Thr) c.1371A>C c.3497A>C (p.Lys1166Thr) c.1073A>C (p.Lys358Thr) n.57A>C n.1073A>C c.3440A>C (p.Lys1147Thr) c.3311A>C (p.Lys1104Thr) c.3299A>C (p.Lys1100Thr) c.3272A>C (p.Lys1091Thr) n.3850A>C n.3852A>C c.3620A>C (p.Lys1207Thr) c.3389A>C (p.Lys1130Thr) n.3635A>C | |
11 | g.77189370A>G | CA381946880 | MYO7A | c.3530A>G (p.Lys1177Arg) c.1371A>G c.3497A>G (p.Lys1166Arg) c.1073A>G (p.Lys358Arg) n.57A>G n.1073A>G c.3440A>G (p.Lys1147Arg) c.3311A>G (p.Lys1104Arg) c.3299A>G (p.Lys1100Arg) c.3272A>G (p.Lys1091Arg) n.3850A>G n.3852A>G c.3620A>G (p.Lys1207Arg) c.3389A>G (p.Lys1130Arg) n.3635A>G | |
11 | g.77189370A>T | CA381946881 | MYO7A | c.3530A>T (p.Lys1177Met) c.1371A>T c.3497A>T (p.Lys1166Met) c.1073A>T (p.Lys358Met) n.57A>T n.1073A>T c.3440A>T (p.Lys1147Met) c.3311A>T (p.Lys1104Met) c.3299A>T (p.Lys1100Met) c.3272A>T (p.Lys1091Met) n.3850A>T n.3852A>T c.3620A>T (p.Lys1207Met) c.3389A>T (p.Lys1130Met) n.3635A>T | |
11 | g.77189371G>A | CA475795924 | MYO7A | c.3531G>A (p.Lys1177=) c.1372G>A c.3498G>A (p.Lys1166=) c.1074G>A (p.Lys358=) n.58G>A n.1074G>A c.3441G>A (p.Lys1147=) c.3312G>A (p.Lys1104=) c.3300G>A (p.Lys1100=) c.3273G>A (p.Lys1091=) n.3851G>A n.3853G>A c.3621G>A (p.Lys1207=) c.3390G>A (p.Lys1130=) n.3636G>A | ClinVar gnomAD v4 |
11 | g.77189371G>C | CA381946882 | MYO7A | c.3531G>C (p.Lys1177Asn) c.1372G>C c.3498G>C (p.Lys1166Asn) c.1074G>C (p.Lys358Asn) n.58G>C n.1074G>C c.3441G>C (p.Lys1147Asn) c.3312G>C (p.Lys1104Asn) c.3300G>C (p.Lys1100Asn) c.3273G>C (p.Lys1091Asn) n.3851G>C n.3853G>C c.3621G>C (p.Lys1207Asn) c.3390G>C (p.Lys1130Asn) n.3636G>C | |
11 | g.77189371G>T | CA381946883 | MYO7A | c.3531G>T (p.Lys1177Asn) c.1372G>T c.3498G>T (p.Lys1166Asn) c.1074G>T (p.Lys358Asn) n.58G>T n.1074G>T c.3441G>T (p.Lys1147Asn) c.3312G>T (p.Lys1104Asn) c.3300G>T (p.Lys1100Asn) c.3273G>T (p.Lys1091Asn) n.3851G>T n.3853G>T c.3621G>T (p.Lys1207Asn) c.3390G>T (p.Lys1130Asn) n.3636G>T | |
11 | g.77189371_77189372delinsGC | CA1984122393 | MYO7A | c.3531_3532delinsGC (p.Lys1177=) c.1372_1373delinsGC c.3498_3499delinsGC (p.Lys1166=) c.1074_1075delinsGC (p.Lys358=) n.58_59delinsGC n.1074_1075delinsGC c.3441_3442delinsGC (p.Lys1147=) c.3312_3313delinsGC (p.Lys1104=) c.3300_3301delinsGC (p.Lys1100=) c.3273_3274delinsGC (p.Lys1091=) n.3851_3852delinsGC n.3853_3854delinsGC c.3621_3622delinsGC (p.Lys1207=) c.3390_3391delinsGC (p.Lys1130=) n.3636_3637delinsGC | |
11 | g.77189372del | CA278650 | MYO7A | c.3532del (p.Gln1178SerfsTer2) c.1373del c.3499del (p.Gln1167SerfsTer2) c.1075del (p.Gln359SerfsTer2) n.59del n.1075del c.3442del (p.Gln1148SerfsTer2) c.3313del (p.Gln1105SerfsTer2) c.3301del (p.Gln1101SerfsTer2) c.3274del (p.Gln1092SerfsTer2) n.3852del n.3854del c.3622del (p.Gln1208SerfsTer2) c.3391del (p.Gln1131SerfsTer2) n.3637del | ClinVar dbSNP gnomAD v4 |
11 | g.77189372C>A | CA381946886 | MYO7A | c.3532C>A (p.Gln1178Lys) c.1373C>A c.3499C>A (p.Gln1167Lys) c.1075C>A (p.Gln359Lys) n.59C>A n.1075C>A c.3442C>A (p.Gln1148Lys) c.3313C>A (p.Gln1105Lys) c.3301C>A (p.Gln1101Lys) c.3274C>A (p.Gln1092Lys) n.3852C>A n.3854C>A c.3622C>A (p.Gln1208Lys) c.3391C>A (p.Gln1131Lys) n.3637C>A | |
11 | g.77189372C>G | CA381946884 | MYO7A | c.3532C>G (p.Gln1178Glu) c.1373C>G c.3499C>G (p.Gln1167Glu) c.1075C>G (p.Gln359Glu) n.59C>G n.1075C>G c.3442C>G (p.Gln1148Glu) c.3313C>G (p.Gln1105Glu) c.3301C>G (p.Gln1101Glu) c.3274C>G (p.Gln1092Glu) n.3852C>G n.3854C>G c.3622C>G (p.Gln1208Glu) c.3391C>G (p.Gln1131Glu) n.3637C>G | gnomAD v4 |
11 | g.77189372C>T | CA381946885 | MYO7A | c.3532C>T (p.Gln1178Ter) c.1373C>T c.3499C>T (p.Gln1167Ter) c.1075C>T (p.Gln359Ter) n.59C>T n.1075C>T c.3442C>T (p.Gln1148Ter) c.3313C>T (p.Gln1105Ter) c.3301C>T (p.Gln1101Ter) c.3274C>T (p.Gln1092Ter) n.3852C>T n.3854C>T c.3622C>T (p.Gln1208Ter) c.3391C>T (p.Gln1131Ter) n.3637C>T | |
11 | g.77189373A= | CA1984122400 | MYO7A | c.3533A= (p.Gln1178=) c.1374A= c.3500A= (p.Gln1167=) c.1076A= (p.Gln359=) n.60A= n.1076A= c.3443A= (p.Gln1148=) c.3314A= (p.Gln1105=) c.3302A= (p.Gln1101=) c.3275A= (p.Gln1092=) n.3853A= n.3855A= c.3623A= (p.Gln1208=) c.3392A= (p.Gln1131=) n.3638A= | |
11 | g.77189373A>C | CA278651 | MYO7A | c.3533A>C (p.Gln1178Pro) c.1374A>C c.3500A>C (p.Gln1167Pro) c.1076A>C (p.Gln359Pro) n.60A>C n.1076A>C c.3443A>C (p.Gln1148Pro) c.3314A>C (p.Gln1105Pro) c.3302A>C (p.Gln1101Pro) c.3275A>C (p.Gln1092Pro) n.3853A>C n.3855A>C c.3623A>C (p.Gln1208Pro) c.3392A>C (p.Gln1131Pro) n.3638A>C | ClinVar dbSNP |
11 | g.77189373A>G | CA381946887 | MYO7A | c.3533A>G (p.Gln1178Arg) c.1374A>G c.3500A>G (p.Gln1167Arg) c.1076A>G (p.Gln359Arg) n.60A>G n.1076A>G c.3443A>G (p.Gln1148Arg) c.3314A>G (p.Gln1105Arg) c.3302A>G (p.Gln1101Arg) c.3275A>G (p.Gln1092Arg) n.3853A>G n.3855A>G c.3623A>G (p.Gln1208Arg) c.3392A>G (p.Gln1131Arg) n.3638A>G | |
11 | g.77189373A>T | CA381946888 | MYO7A | c.3533A>T (p.Gln1178Leu) c.1374A>T c.3500A>T (p.Gln1167Leu) c.1076A>T (p.Gln359Leu) n.60A>T n.1076A>T c.3443A>T (p.Gln1148Leu) c.3314A>T (p.Gln1105Leu) c.3302A>T (p.Gln1101Leu) c.3275A>T (p.Gln1092Leu) n.3853A>T n.3855A>T c.3623A>T (p.Gln1208Leu) c.3392A>T (p.Gln1131Leu) n.3638A>T | |
11 | g.77189374G>A | CA475795925 | MYO7A | c.3534G>A (p.Gln1178=) c.1375G>A c.3501G>A (p.Gln1167=) c.1077G>A (p.Gln359=) n.61G>A n.1077G>A c.3444G>A (p.Gln1148=) c.3315G>A (p.Gln1105=) c.3303G>A (p.Gln1101=) c.3276G>A (p.Gln1092=) n.3854G>A n.3856G>A c.3624G>A (p.Gln1208=) c.3393G>A (p.Gln1131=) n.3639G>A | |
11 | g.77189374G>C | CA381946889 | MYO7A | c.3534G>C (p.Gln1178His) c.1375G>C c.3501G>C (p.Gln1167His) c.1077G>C (p.Gln359His) n.61G>C n.1077G>C c.3444G>C (p.Gln1148His) c.3315G>C (p.Gln1105His) c.3303G>C (p.Gln1101His) c.3276G>C (p.Gln1092His) n.3854G>C n.3856G>C c.3624G>C (p.Gln1208His) c.3393G>C (p.Gln1131His) n.3639G>C | |
11 | g.77189374G>T | CA381946890 | MYO7A | c.3534G>T (p.Gln1178His) c.1375G>T c.3501G>T (p.Gln1167His) c.1077G>T (p.Gln359His) n.61G>T n.1077G>T c.3444G>T (p.Gln1148His) c.3315G>T (p.Gln1105His) c.3303G>T (p.Gln1101His) c.3276G>T (p.Gln1092His) n.3854G>T n.3856G>T c.3624G>T (p.Gln1208His) c.3393G>T (p.Gln1131His) n.3639G>T | |
11 | g.77189375C>A | CA381946891 | MYO7A | c.3535C>A (p.Leu1179Met) c.1376C>A c.3502C>A (p.Leu1168Met) c.1078C>A (p.Leu360Met) n.62C>A n.1078C>A c.3445C>A (p.Leu1149Met) c.3316C>A (p.Leu1106Met) c.3304C>A (p.Leu1102Met) c.3277C>A (p.Leu1093Met) n.3855C>A n.3857C>A c.3625C>A (p.Leu1209Met) c.3394C>A (p.Leu1132Met) n.3640C>A | |
11 | g.77189375C= | CA1984122406 | MYO7A | c.3535C= (p.Leu1179=) c.1376C= c.3502C= (p.Leu1168=) c.1078C= (p.Leu360=) n.62C= n.1078C= c.3445C= (p.Leu1149=) c.3316C= (p.Leu1106=) c.3304C= (p.Leu1102=) c.3277C= (p.Leu1093=) n.3855C= n.3857C= c.3625C= (p.Leu1209=) c.3394C= (p.Leu1132=) n.3640C= | |
11 | g.77189375C>G | CA381946892 | MYO7A | c.3535C>G (p.Leu1179Val) c.1376C>G c.3502C>G (p.Leu1168Val) c.1078C>G (p.Leu360Val) n.62C>G n.1078C>G c.3445C>G (p.Leu1149Val) c.3316C>G (p.Leu1106Val) c.3304C>G (p.Leu1102Val) c.3277C>G (p.Leu1093Val) n.3855C>G n.3857C>G c.3625C>G (p.Leu1209Val) c.3394C>G (p.Leu1132Val) n.3640C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77189375C>T | CA6198107 | MYO7A | c.3535C>T (p.Leu1179=) c.1376C>T c.3502C>T (p.Leu1168=) c.1078C>T (p.Leu360=) n.62C>T n.1078C>T c.3445C>T (p.Leu1149=) c.3316C>T (p.Leu1106=) c.3304C>T (p.Leu1102=) c.3277C>T (p.Leu1093=) n.3855C>T n.3857C>T c.3625C>T (p.Leu1209=) c.3394C>T (p.Leu1132=) n.3640C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77189376T>A | CA6198108 | MYO7A | c.3536T>A (p.Leu1179Gln) c.1377T>A c.3503T>A (p.Leu1168Gln) c.1079T>A (p.Leu360Gln) n.63T>A n.1079T>A c.3446T>A (p.Leu1149Gln) c.3317T>A (p.Leu1106Gln) c.3305T>A (p.Leu1102Gln) c.3278T>A (p.Leu1093Gln) n.3856T>A n.3858T>A c.3626T>A (p.Leu1209Gln) c.3395T>A (p.Leu1132Gln) n.3641T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189376T>C | CA381946893 | MYO7A | c.3536T>C (p.Leu1179Pro) c.1377T>C c.3503T>C (p.Leu1168Pro) c.1079T>C (p.Leu360Pro) n.63T>C n.1079T>C c.3446T>C (p.Leu1149Pro) c.3317T>C (p.Leu1106Pro) c.3305T>C (p.Leu1102Pro) c.3278T>C (p.Leu1093Pro) n.3856T>C n.3858T>C c.3626T>C (p.Leu1209Pro) c.3395T>C (p.Leu1132Pro) n.3641T>C | |
11 | g.77189376T>G | CA381946894 | MYO7A | c.3536T>G (p.Leu1179Arg) c.1377T>G c.3503T>G (p.Leu1168Arg) c.1079T>G (p.Leu360Arg) n.63T>G n.1079T>G c.3446T>G (p.Leu1149Arg) c.3317T>G (p.Leu1106Arg) c.3305T>G (p.Leu1102Arg) c.3278T>G (p.Leu1093Arg) n.3856T>G n.3858T>G c.3626T>G (p.Leu1209Arg) c.3395T>G (p.Leu1132Arg) n.3641T>G | |
11 | g.77189376T= | CA1984122413 | MYO7A | c.3536T= (p.Leu1179=) c.1377T= c.3503T= (p.Leu1168=) c.1079T= (p.Leu360=) n.63T= n.1079T= c.3446T= (p.Leu1149=) c.3317T= (p.Leu1106=) c.3305T= (p.Leu1102=) c.3278T= (p.Leu1093=) n.3856T= n.3858T= c.3626T= (p.Leu1209=) c.3395T= (p.Leu1132=) n.3641T= | |
11 | g.77189377G>A | CA475795926 | MYO7A | c.3537G>A (p.Leu1179=) c.1378G>A c.3504G>A (p.Leu1168=) c.1080G>A (p.Leu360=) n.64G>A n.1080G>A c.3447G>A (p.Leu1149=) c.3318G>A (p.Leu1106=) c.3306G>A (p.Leu1102=) c.3279G>A (p.Leu1093=) n.3857G>A n.3859G>A c.3627G>A (p.Leu1209=) c.3396G>A (p.Leu1132=) n.3642G>A | |
11 | g.77189377G>C | CA475795927 | MYO7A | c.3537G>C (p.Leu1179=) c.1378G>C c.3504G>C (p.Leu1168=) c.1080G>C (p.Leu360=) n.64G>C n.1080G>C c.3447G>C (p.Leu1149=) c.3318G>C (p.Leu1106=) c.3306G>C (p.Leu1102=) c.3279G>C (p.Leu1093=) n.3857G>C n.3859G>C c.3627G>C (p.Leu1209=) c.3396G>C (p.Leu1132=) n.3642G>C | |
11 | g.77189377G>T | CA475795928 | MYO7A | c.3537G>T (p.Leu1179=) c.1378G>T c.3504G>T (p.Leu1168=) c.1080G>T (p.Leu360=) n.64G>T n.1080G>T c.3447G>T (p.Leu1149=) c.3318G>T (p.Leu1106=) c.3306G>T (p.Leu1102=) c.3279G>T (p.Leu1093=) n.3857G>T n.3859G>T c.3627G>T (p.Leu1209=) c.3396G>T (p.Leu1132=) n.3642G>T | |
11 | g.77189378A= | CA1984122415 | MYO7A | c.3538A= (p.Thr1180=) c.1379A= c.3505A= (p.Thr1169=) c.1081A= (p.Thr361=) n.65A= n.1081A= c.3448A= (p.Thr1150=) c.3319A= (p.Thr1107=) c.3307A= (p.Thr1103=) c.3280A= (p.Thr1094=) n.3858A= n.3860A= c.3628A= (p.Thr1210=) c.3397A= (p.Thr1133=) n.3643A= | |
11 | g.77189378A>C | CA381946896 | MYO7A | c.3538A>C (p.Thr1180Pro) c.1379A>C c.3505A>C (p.Thr1169Pro) c.1081A>C (p.Thr361Pro) n.65A>C n.1081A>C c.3448A>C (p.Thr1150Pro) c.3319A>C (p.Thr1107Pro) c.3307A>C (p.Thr1103Pro) c.3280A>C (p.Thr1094Pro) n.3858A>C n.3860A>C c.3628A>C (p.Thr1210Pro) c.3397A>C (p.Thr1133Pro) n.3643A>C | |
11 | g.77189378A>G | CA381946897 | MYO7A | c.3538A>G (p.Thr1180Ala) c.1379A>G c.3505A>G (p.Thr1169Ala) c.1081A>G (p.Thr361Ala) n.65A>G n.1081A>G c.3448A>G (p.Thr1150Ala) c.3319A>G (p.Thr1107Ala) c.3307A>G (p.Thr1103Ala) c.3280A>G (p.Thr1094Ala) n.3858A>G n.3860A>G c.3628A>G (p.Thr1210Ala) c.3397A>G (p.Thr1133Ala) n.3643A>G | |
11 | g.77189378A>T | CA381946895 | MYO7A | c.3538A>T (p.Thr1180Ser) c.1379A>T c.3505A>T (p.Thr1169Ser) c.1081A>T (p.Thr361Ser) n.65A>T n.1081A>T c.3448A>T (p.Thr1150Ser) c.3319A>T (p.Thr1107Ser) c.3307A>T (p.Thr1103Ser) c.3280A>T (p.Thr1094Ser) n.3858A>T n.3860A>T c.3628A>T (p.Thr1210Ser) c.3397A>T (p.Thr1133Ser) n.3643A>T | dbSNP |
11 | g.77189379C>A | CA381946900 | MYO7A | c.3539C>A (p.Thr1180Asn) c.1380C>A c.3506C>A (p.Thr1169Asn) c.1082C>A (p.Thr361Asn) n.66C>A n.1082C>A c.3449C>A (p.Thr1150Asn) c.3320C>A (p.Thr1107Asn) c.3308C>A (p.Thr1103Asn) c.3281C>A (p.Thr1094Asn) n.3859C>A n.3861C>A c.3629C>A (p.Thr1210Asn) c.3398C>A (p.Thr1133Asn) n.3644C>A | |
11 | g.77189379C>G | CA381946898 | MYO7A | c.3539C>G (p.Thr1180Ser) c.1380C>G c.3506C>G (p.Thr1169Ser) c.1082C>G (p.Thr361Ser) n.66C>G n.1082C>G c.3449C>G (p.Thr1150Ser) c.3320C>G (p.Thr1107Ser) c.3308C>G (p.Thr1103Ser) c.3281C>G (p.Thr1094Ser) n.3859C>G n.3861C>G c.3629C>G (p.Thr1210Ser) c.3398C>G (p.Thr1133Ser) n.3644C>G | |
11 | g.77189379C>T | CA381946899 | MYO7A | c.3539C>T (p.Thr1180Ile) c.1380C>T c.3506C>T (p.Thr1169Ile) c.1082C>T (p.Thr361Ile) n.66C>T n.1082C>T c.3449C>T (p.Thr1150Ile) c.3320C>T (p.Thr1107Ile) c.3308C>T (p.Thr1103Ile) c.3281C>T (p.Thr1094Ile) n.3859C>T n.3861C>T c.3629C>T (p.Thr1210Ile) c.3398C>T (p.Thr1133Ile) n.3644C>T | |
11 | g.77189380C>A | CA475795930 | MYO7A | c.3540C>A (p.Thr1180=) c.1381C>A c.3507C>A (p.Thr1169=) c.1083C>A (p.Thr361=) n.67C>A n.1083C>A c.3450C>A (p.Thr1150=) c.3321C>A (p.Thr1107=) c.3309C>A (p.Thr1103=) c.3282C>A (p.Thr1094=) n.3860C>A n.3862C>A c.3630C>A (p.Thr1210=) c.3399C>A (p.Thr1133=) n.3645C>A | |
11 | g.77189380C= | CA1984122419 | MYO7A | c.3540C= (p.Thr1180=) c.1381C= c.3507C= (p.Thr1169=) c.1083C= (p.Thr361=) n.67C= n.1083C= c.3450C= (p.Thr1150=) c.3321C= (p.Thr1107=) c.3309C= (p.Thr1103=) c.3282C= (p.Thr1094=) n.3860C= n.3862C= c.3630C= (p.Thr1210=) c.3399C= (p.Thr1133=) n.3645C= | |
11 | g.77189380C>G | CA475795931 | MYO7A | c.3540C>G (p.Thr1180=) c.1381C>G c.3507C>G (p.Thr1169=) c.1083C>G (p.Thr361=) n.67C>G n.1083C>G c.3450C>G (p.Thr1150=) c.3321C>G (p.Thr1107=) c.3309C>G (p.Thr1103=) c.3282C>G (p.Thr1094=) n.3860C>G n.3862C>G c.3630C>G (p.Thr1210=) c.3399C>G (p.Thr1133=) n.3645C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.77189380C>T | CA475795929 | MYO7A | c.3540C>T (p.Thr1180=) c.1381C>T c.3507C>T (p.Thr1169=) c.1083C>T (p.Thr361=) n.67C>T n.1083C>T c.3450C>T (p.Thr1150=) c.3321C>T (p.Thr1107=) c.3309C>T (p.Thr1103=) c.3282C>T (p.Thr1094=) n.3860C>T n.3862C>T c.3630C>T (p.Thr1210=) c.3399C>T (p.Thr1133=) n.3645C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77189381C>A | CA381946901 | MYO7A | c.3541C>A (p.His1181Asn) c.1382C>A c.3508C>A (p.His1170Asn) c.1084C>A (p.His362Asn) n.68C>A n.1084C>A c.3451C>A (p.His1151Asn) c.3322C>A (p.His1108Asn) c.3310C>A (p.His1104Asn) c.3283C>A (p.His1095Asn) n.3861C>A n.3863C>A c.3631C>A (p.His1211Asn) c.3400C>A (p.His1134Asn) n.3646C>A | |
11 | g.77189381C>G | CA381946902 | MYO7A | c.3541C>G (p.His1181Asp) c.1382C>G c.3508C>G (p.His1170Asp) c.1084C>G (p.His362Asp) n.68C>G n.1084C>G c.3451C>G (p.His1151Asp) c.3322C>G (p.His1108Asp) c.3310C>G (p.His1104Asp) c.3283C>G (p.His1095Asp) n.3861C>G n.3863C>G c.3631C>G (p.His1211Asp) c.3400C>G (p.His1134Asp) n.3646C>G | |
11 | g.77189381C>T | CA381946903 | MYO7A | c.3541C>T (p.His1181Tyr) c.1382C>T c.3508C>T (p.His1170Tyr) c.1084C>T (p.His362Tyr) n.68C>T n.1084C>T c.3451C>T (p.His1151Tyr) c.3322C>T (p.His1108Tyr) c.3310C>T (p.His1104Tyr) c.3283C>T (p.His1095Tyr) n.3861C>T n.3863C>T c.3631C>T (p.His1211Tyr) c.3400C>T (p.His1134Tyr) n.3646C>T | |
11 | g.77189383_77189384dup | CA278653 | MYO7A | c.3543_3544dup (p.Asn1182ThrfsTer?) c.1384_1385dup c.3510_3511dup (p.Asn1171ThrfsTer?) c.1086_1087dup (p.Asn363ThrfsTer?) n.70_71dup n.1086_1087dup c.3453_3454dup (p.Asn1152ThrfsTer?) c.3324_3325dup (p.Asn1109ThrfsTer?) c.3312_3313dup (p.Asn1105ThrfsTer?) c.3285_3286dup (p.Asn1096ThrfsTer?) n.3863_3864dup n.3865_3866dup c.3633_3634dup (p.Asn1212ThrfsTer?) c.3402_3403dup (p.Asn1135ThrfsTer?) n.3648_3649dup | ClinVar dbSNP |
11 | g.77189382A>C | CA381946904 | MYO7A | c.3542A>C (p.His1181Pro) c.1383A>C c.3509A>C (p.His1170Pro) c.1085A>C (p.His362Pro) n.69A>C n.1085A>C c.3452A>C (p.His1151Pro) c.3323A>C (p.His1108Pro) c.3311A>C (p.His1104Pro) c.3284A>C (p.His1095Pro) n.3862A>C n.3864A>C c.3632A>C (p.His1211Pro) c.3401A>C (p.His1134Pro) n.3647A>C | ClinVar dbSNP |
11 | g.77189382A>G | CA381946905 | MYO7A | c.3542A>G (p.His1181Arg) c.1383A>G c.3509A>G (p.His1170Arg) c.1085A>G (p.His362Arg) n.69A>G n.1085A>G c.3452A>G (p.His1151Arg) c.3323A>G (p.His1108Arg) c.3311A>G (p.His1104Arg) c.3284A>G (p.His1095Arg) n.3862A>G n.3864A>G c.3632A>G (p.His1211Arg) c.3401A>G (p.His1134Arg) n.3647A>G | |
11 | g.77189382A>T | CA381946906 | MYO7A | c.3542A>T (p.His1181Leu) c.1383A>T c.3509A>T (p.His1170Leu) c.1085A>T (p.His362Leu) n.69A>T n.1085A>T c.3452A>T (p.His1151Leu) c.3323A>T (p.His1108Leu) c.3311A>T (p.His1104Leu) c.3284A>T (p.His1095Leu) n.3862A>T n.3864A>T c.3632A>T (p.His1211Leu) c.3401A>T (p.His1134Leu) n.3647A>T | |
11 | g.77189383C>A | CA381946907 | MYO7A | c.3543C>A (p.His1181Gln) c.1384C>A c.3510C>A (p.His1170Gln) c.1086C>A (p.His362Gln) n.70C>A n.1086C>A c.3453C>A (p.His1151Gln) c.3324C>A (p.His1108Gln) c.3312C>A (p.His1104Gln) c.3285C>A (p.His1095Gln) n.3863C>A n.3865C>A c.3633C>A (p.His1211Gln) c.3402C>A (p.His1134Gln) n.3648C>A | |
11 | g.77189383C>G | CA381946908 | MYO7A | c.3543C>G (p.His1181Gln) c.1384C>G c.3510C>G (p.His1170Gln) c.1086C>G (p.His362Gln) n.70C>G n.1086C>G c.3453C>G (p.His1151Gln) c.3324C>G (p.His1108Gln) c.3312C>G (p.His1104Gln) c.3285C>G (p.His1095Gln) n.3863C>G n.3865C>G c.3633C>G (p.His1211Gln) c.3402C>G (p.His1134Gln) n.3648C>G | |
11 | g.77189383C>T | CA475795932 | MYO7A | c.3543C>T (p.His1181=) c.1384C>T c.3510C>T (p.His1170=) c.1086C>T (p.His362=) n.70C>T n.1086C>T c.3453C>T (p.His1151=) c.3324C>T (p.His1108=) c.3312C>T (p.His1104=) c.3285C>T (p.His1095=) n.3863C>T n.3865C>T c.3633C>T (p.His1211=) c.3402C>T (p.His1134=) n.3648C>T | |
11 | g.77189384A= | CA1984122428 | MYO7A | c.3544A= (p.Asn1182=) c.1385A= c.3511A= (p.Asn1171=) c.1087A= (p.Asn363=) n.71A= n.1087A= c.3454A= (p.Asn1152=) c.3325A= (p.Asn1109=) c.3313A= (p.Asn1105=) c.3286A= (p.Asn1096=) n.3864A= n.3866A= c.3634A= (p.Asn1212=) c.3403A= (p.Asn1135=) n.3649A= | |
11 | g.77189384A>C | CA381946909 | MYO7A | c.3544A>C (p.Asn1182His) c.1385A>C c.3511A>C (p.Asn1171His) c.1087A>C (p.Asn363His) n.71A>C n.1087A>C c.3454A>C (p.Asn1152His) c.3325A>C (p.Asn1109His) c.3313A>C (p.Asn1105His) c.3286A>C (p.Asn1096His) n.3864A>C n.3866A>C c.3634A>C (p.Asn1212His) c.3403A>C (p.Asn1135His) n.3649A>C | |
11 | g.77189384A>G | CA6198109 | MYO7A | c.3544A>G (p.Asn1182Asp) c.1385A>G c.3511A>G (p.Asn1171Asp) c.1087A>G (p.Asn363Asp) n.71A>G n.1087A>G c.3454A>G (p.Asn1152Asp) c.3325A>G (p.Asn1109Asp) c.3313A>G (p.Asn1105Asp) c.3286A>G (p.Asn1096Asp) n.3864A>G n.3866A>G c.3634A>G (p.Asn1212Asp) c.3403A>G (p.Asn1135Asp) n.3649A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77189384A>T | CA381946910 | MYO7A | c.3544A>T (p.Asn1182Tyr) c.1385A>T c.3511A>T (p.Asn1171Tyr) c.1087A>T (p.Asn363Tyr) n.71A>T n.1087A>T c.3454A>T (p.Asn1152Tyr) c.3325A>T (p.Asn1109Tyr) c.3313A>T (p.Asn1105Tyr) c.3286A>T (p.Asn1096Tyr) n.3864A>T n.3866A>T c.3634A>T (p.Asn1212Tyr) c.3403A>T (p.Asn1135Tyr) n.3649A>T | |
11 | g.77189385A= | CA1984122430 | MYO7A | c.3545A= (p.Asn1182=) c.1386A= c.3512A= (p.Asn1171=) c.1088A= (p.Asn363=) n.72A= n.1088A= c.3455A= (p.Asn1152=) c.3326A= (p.Asn1109=) c.3314A= (p.Asn1105=) c.3287A= (p.Asn1096=) n.3865A= n.3867A= c.3635A= (p.Asn1212=) c.3404A= (p.Asn1135=) n.3650A= | |
11 | g.77189385A>C | CA381946912 | MYO7A | c.3545A>C (p.Asn1182Thr) c.1386A>C c.3512A>C (p.Asn1171Thr) c.1088A>C (p.Asn363Thr) n.72A>C n.1088A>C c.3455A>C (p.Asn1152Thr) c.3326A>C (p.Asn1109Thr) c.3314A>C (p.Asn1105Thr) c.3287A>C (p.Asn1096Thr) n.3865A>C n.3867A>C c.3635A>C (p.Asn1212Thr) c.3404A>C (p.Asn1135Thr) n.3650A>C | |
11 | g.77189385A>G | CA6198110 | MYO7A | c.3545A>G (p.Asn1182Ser) c.1386A>G c.3512A>G (p.Asn1171Ser) c.1088A>G (p.Asn363Ser) n.72A>G n.1088A>G c.3455A>G (p.Asn1152Ser) c.3326A>G (p.Asn1109Ser) c.3314A>G (p.Asn1105Ser) c.3287A>G (p.Asn1096Ser) n.3865A>G n.3867A>G c.3635A>G (p.Asn1212Ser) c.3404A>G (p.Asn1135Ser) n.3650A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77189385A>T | CA381946911 | MYO7A | c.3545A>T (p.Asn1182Ile) c.1386A>T c.3512A>T (p.Asn1171Ile) c.1088A>T (p.Asn363Ile) n.72A>T n.1088A>T c.3455A>T (p.Asn1152Ile) c.3326A>T (p.Asn1109Ile) c.3314A>T (p.Asn1105Ile) c.3287A>T (p.Asn1096Ile) n.3865A>T n.3867A>T c.3635A>T (p.Asn1212Ile) c.3404A>T (p.Asn1135Ile) n.3650A>T | |
11 | g.77189386C>A | CA381946913 | MYO7A | c.3546C>A (p.Asn1182Lys) c.1387C>A c.3513C>A (p.Asn1171Lys) c.1089C>A (p.Asn363Lys) n.73C>A n.1089C>A c.3456C>A (p.Asn1152Lys) c.3327C>A (p.Asn1109Lys) c.3315C>A (p.Asn1105Lys) c.3288C>A (p.Asn1096Lys) n.3866C>A n.3868C>A c.3636C>A (p.Asn1212Lys) c.3405C>A (p.Asn1135Lys) n.3651C>A | ClinVar dbSNP gnomAD v4 |
11 | g.77189386C= | CA1984122439 | MYO7A | c.3546C= (p.Asn1182=) c.1387C= c.3513C= (p.Asn1171=) c.1089C= (p.Asn363=) n.73C= n.1089C= c.3456C= (p.Asn1152=) c.3327C= (p.Asn1109=) c.3315C= (p.Asn1105=) c.3288C= (p.Asn1096=) n.3866C= n.3868C= c.3636C= (p.Asn1212=) c.3405C= (p.Asn1135=) n.3651C= | |
11 | g.77189386C>G | CA381946914 | MYO7A | c.3546C>G (p.Asn1182Lys) c.1387C>G c.3513C>G (p.Asn1171Lys) c.1089C>G (p.Asn363Lys) n.73C>G n.1089C>G c.3456C>G (p.Asn1152Lys) c.3327C>G (p.Asn1109Lys) c.3315C>G (p.Asn1105Lys) c.3288C>G (p.Asn1096Lys) n.3866C>G n.3868C>G c.3636C>G (p.Asn1212Lys) c.3405C>G (p.Asn1135Lys) n.3651C>G | |
11 | g.77189386C>T | CA475795933 | MYO7A | c.3546C>T (p.Asn1182=) c.1387C>T c.3513C>T (p.Asn1171=) c.1089C>T (p.Asn363=) n.73C>T n.1089C>T c.3456C>T (p.Asn1152=) c.3327C>T (p.Asn1109=) c.3315C>T (p.Asn1105=) c.3288C>T (p.Asn1096=) n.3866C>T n.3868C>T c.3636C>T (p.Asn1212=) c.3405C>T (p.Asn1135=) n.3651C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77189389del | CA2695214997 | MYO7A | c.3549del (p.Ser1184ProfsTer?) c.1390del c.3516del (p.Ser1173ProfsTer?) c.1092del (p.Ser365ProfsTer?) n.76del n.1092del c.3459del (p.Ser1154ProfsTer?) c.3330del (p.Ser1111ProfsTer?) c.3318del (p.Ser1107ProfsTer?) c.3291del (p.Ser1098ProfsTer?) n.3869del n.3871del c.3639del (p.Ser1214ProfsTer?) c.3408del (p.Ser1137ProfsTer?) n.3654del | |
11 | g.77189387C>A | CA381946915 | MYO7A | c.3547C>A (p.Pro1183Thr) c.1388C>A c.3514C>A (p.Pro1172Thr) c.1090C>A (p.Pro364Thr) n.74C>A n.1090C>A c.3457C>A (p.Pro1153Thr) c.3328C>A (p.Pro1110Thr) c.3316C>A (p.Pro1106Thr) c.3289C>A (p.Pro1097Thr) n.3867C>A n.3869C>A c.3637C>A (p.Pro1213Thr) c.3406C>A (p.Pro1136Thr) n.3652C>A | |
11 | g.77189387C>G | CA381946916 | MYO7A | c.3547C>G (p.Pro1183Ala) c.1388C>G c.3514C>G (p.Pro1172Ala) c.1090C>G (p.Pro364Ala) n.74C>G n.1090C>G c.3457C>G (p.Pro1153Ala) c.3328C>G (p.Pro1110Ala) c.3316C>G (p.Pro1106Ala) c.3289C>G (p.Pro1097Ala) n.3867C>G n.3869C>G c.3637C>G (p.Pro1213Ala) c.3406C>G (p.Pro1136Ala) n.3652C>G | gnomAD v4 |
11 | g.77189387C>T | CA381946917 | MYO7A | c.3547C>T (p.Pro1183Ser) c.1388C>T c.3514C>T (p.Pro1172Ser) c.1090C>T (p.Pro364Ser) n.74C>T n.1090C>T c.3457C>T (p.Pro1153Ser) c.3328C>T (p.Pro1110Ser) c.3316C>T (p.Pro1106Ser) c.3289C>T (p.Pro1097Ser) n.3867C>T n.3869C>T c.3637C>T (p.Pro1213Ser) c.3406C>T (p.Pro1136Ser) n.3652C>T | gnomAD v4 |
11 | g.77189388C>A | CA381946918 | MYO7A | c.3548C>A (p.Pro1183His) c.1389C>A c.3515C>A (p.Pro1172His) c.1091C>A (p.Pro364His) n.75C>A n.1091C>A c.3458C>A (p.Pro1153His) c.3329C>A (p.Pro1110His) c.3317C>A (p.Pro1106His) c.3290C>A (p.Pro1097His) n.3868C>A n.3870C>A c.3638C>A (p.Pro1213His) c.3407C>A (p.Pro1136His) n.3653C>A | |
11 | g.77189388C= | CA1984122442 | MYO7A | c.3548C= (p.Pro1183=) c.1389C= c.3515C= (p.Pro1172=) c.1091C= (p.Pro364=) n.75C= n.1091C= c.3458C= (p.Pro1153=) c.3329C= (p.Pro1110=) c.3317C= (p.Pro1106=) c.3290C= (p.Pro1097=) n.3868C= n.3870C= c.3638C= (p.Pro1213=) c.3407C= (p.Pro1136=) n.3653C= | |
11 | g.77189388C>G | CA381946919 | MYO7A | c.3548C>G (p.Pro1183Arg) c.1389C>G c.3515C>G (p.Pro1172Arg) c.1091C>G (p.Pro364Arg) n.75C>G n.1091C>G c.3458C>G (p.Pro1153Arg) c.3329C>G (p.Pro1110Arg) c.3317C>G (p.Pro1106Arg) c.3290C>G (p.Pro1097Arg) n.3868C>G n.3870C>G c.3638C>G (p.Pro1213Arg) c.3407C>G (p.Pro1136Arg) n.3653C>G | |
11 | g.77189388C>T | CA381946920 | MYO7A | c.3548C>T (p.Pro1183Leu) c.1389C>T c.3515C>T (p.Pro1172Leu) c.1091C>T (p.Pro364Leu) n.75C>T n.1091C>T c.3458C>T (p.Pro1153Leu) c.3329C>T (p.Pro1110Leu) c.3317C>T (p.Pro1106Leu) c.3290C>T (p.Pro1097Leu) n.3868C>T n.3870C>T c.3638C>T (p.Pro1213Leu) c.3407C>T (p.Pro1136Leu) n.3653C>T | dbSNP |
11 | g.77189389C>A | CA475795934 | MYO7A | c.3549C>A (p.Pro1183=) c.1390C>A c.3516C>A (p.Pro1172=) c.1092C>A (p.Pro364=) n.76C>A n.1092C>A c.3459C>A (p.Pro1153=) c.3330C>A (p.Pro1110=) c.3318C>A (p.Pro1106=) c.3291C>A (p.Pro1097=) n.3869C>A n.3871C>A c.3639C>A (p.Pro1213=) c.3408C>A (p.Pro1136=) n.3654C>A | |
11 | g.77189389C>G | CA475795935 | MYO7A | c.3549C>G (p.Pro1183=) c.1390C>G c.3516C>G (p.Pro1172=) c.1092C>G (p.Pro364=) n.76C>G n.1092C>G c.3459C>G (p.Pro1153=) c.3330C>G (p.Pro1110=) c.3318C>G (p.Pro1106=) c.3291C>G (p.Pro1097=) n.3869C>G n.3871C>G c.3639C>G (p.Pro1213=) c.3408C>G (p.Pro1136=) n.3654C>G | |
11 | g.77189389C>T | CA475795936 | MYO7A | c.3549C>T (p.Pro1183=) c.1390C>T c.3516C>T (p.Pro1172=) c.1092C>T (p.Pro364=) n.76C>T n.1092C>T c.3459C>T (p.Pro1153=) c.3330C>T (p.Pro1110=) c.3318C>T (p.Pro1106=) c.3291C>T (p.Pro1097=) n.3869C>T n.3871C>T c.3639C>T (p.Pro1213=) c.3408C>T (p.Pro1136=) n.3654C>T | |
11 | g.77189390T>A | CA381946921 | MYO7A | c.3550T>A (p.Ser1184Thr) c.1391T>A c.3517T>A (p.Ser1173Thr) c.1093T>A (p.Ser365Thr) n.77T>A n.1093T>A c.3460T>A (p.Ser1154Thr) c.3331T>A (p.Ser1111Thr) c.3319T>A (p.Ser1107Thr) c.3292T>A (p.Ser1098Thr) n.3870T>A n.3872T>A c.3640T>A (p.Ser1214Thr) c.3409T>A (p.Ser1137Thr) n.3655T>A | |
11 | g.77189390T>C | CA381946922 | MYO7A | c.3550T>C (p.Ser1184Pro) c.1391T>C c.3517T>C (p.Ser1173Pro) c.1093T>C (p.Ser365Pro) n.77T>C n.1093T>C c.3460T>C (p.Ser1154Pro) c.3331T>C (p.Ser1111Pro) c.3319T>C (p.Ser1107Pro) c.3292T>C (p.Ser1098Pro) n.3870T>C n.3872T>C c.3640T>C (p.Ser1214Pro) c.3409T>C (p.Ser1137Pro) n.3655T>C | |
11 | g.77189390T>G | CA381946923 | MYO7A | c.3550T>G (p.Ser1184Ala) c.1391T>G c.3517T>G (p.Ser1173Ala) c.1093T>G (p.Ser365Ala) n.77T>G n.1093T>G c.3460T>G (p.Ser1154Ala) c.3331T>G (p.Ser1111Ala) c.3319T>G (p.Ser1107Ala) c.3292T>G (p.Ser1098Ala) n.3870T>G n.3872T>G c.3640T>G (p.Ser1214Ala) c.3409T>G (p.Ser1137Ala) n.3655T>G | |
11 | g.77189391C>A | CA381946924 | MYO7A | c.3551C>A (p.Ser1184Tyr) c.1392C>A c.3518C>A (p.Ser1173Tyr) c.1094C>A (p.Ser365Tyr) n.78C>A n.1094C>A c.3461C>A (p.Ser1154Tyr) c.3332C>A (p.Ser1111Tyr) c.3320C>A (p.Ser1107Tyr) c.3293C>A (p.Ser1098Tyr) n.3871C>A n.3873C>A c.3641C>A (p.Ser1214Tyr) c.3410C>A (p.Ser1137Tyr) n.3656C>A | |
11 | g.77189391C= | CA1984122444 | MYO7A | c.3551C= (p.Ser1184=) c.1392C= c.3518C= (p.Ser1173=) c.1094C= (p.Ser365=) n.78C= n.1094C= c.3461C= (p.Ser1154=) c.3332C= (p.Ser1111=) c.3320C= (p.Ser1107=) c.3293C= (p.Ser1098=) n.3871C= n.3873C= c.3641C= (p.Ser1214=) c.3410C= (p.Ser1137=) n.3656C= | |
11 | g.77189391C>G | CA381946925 | MYO7A | c.3551C>G (p.Ser1184Cys) c.1392C>G c.3518C>G (p.Ser1173Cys) c.1094C>G (p.Ser365Cys) n.78C>G n.1094C>G c.3461C>G (p.Ser1154Cys) c.3332C>G (p.Ser1111Cys) c.3320C>G (p.Ser1107Cys) c.3293C>G (p.Ser1098Cys) n.3871C>G n.3873C>G c.3641C>G (p.Ser1214Cys) c.3410C>G (p.Ser1137Cys) n.3656C>G | gnomAD v4 |
11 | g.77189391C>T | CA381946926 | MYO7A | c.3551C>T (p.Ser1184Phe) c.1392C>T c.3518C>T (p.Ser1173Phe) c.1094C>T (p.Ser365Phe) n.78C>T n.1094C>T c.3461C>T (p.Ser1154Phe) c.3332C>T (p.Ser1111Phe) c.3320C>T (p.Ser1107Phe) c.3293C>T (p.Ser1098Phe) n.3871C>T n.3873C>T c.3641C>T (p.Ser1214Phe) c.3410C>T (p.Ser1137Phe) n.3656C>T | dbSNP gnomAD v4 |
11 | g.77189392dup | CA2842657597 | MYO7A | c.3552dup (p.Lys1185GlnfsTer?) c.1393dup c.3519dup (p.Lys1174GlnfsTer?) c.1095dup (p.Lys366GlnfsTer?) n.79dup n.1095dup c.3462dup (p.Lys1155GlnfsTer?) c.3333dup (p.Lys1112GlnfsTer?) c.3321dup (p.Lys1108GlnfsTer?) c.3294dup (p.Lys1099GlnfsTer?) n.3872dup n.3874dup c.3642dup (p.Lys1215GlnfsTer?) c.3411dup (p.Lys1138GlnfsTer?) n.3657dup | |
11 | g.77189392C>A | CA475795937 | MYO7A | c.3552C>A (p.Ser1184=) c.1393C>A c.3519C>A (p.Ser1173=) c.1095C>A (p.Ser365=) n.79C>A n.1095C>A c.3462C>A (p.Ser1154=) c.3333C>A (p.Ser1111=) c.3321C>A (p.Ser1107=) c.3294C>A (p.Ser1098=) n.3872C>A n.3874C>A c.3642C>A (p.Ser1214=) c.3411C>A (p.Ser1137=) n.3657C>A | |
11 | g.77189392C>G | CA475795938 | MYO7A | c.3552C>G (p.Ser1184=) c.1393C>G c.3519C>G (p.Ser1173=) c.1095C>G (p.Ser365=) n.79C>G n.1095C>G c.3462C>G (p.Ser1154=) c.3333C>G (p.Ser1111=) c.3321C>G (p.Ser1107=) c.3294C>G (p.Ser1098=) n.3872C>G n.3874C>G c.3642C>G (p.Ser1214=) c.3411C>G (p.Ser1137=) n.3657C>G | COSMIC |
11 | g.77189392C>T | CA475795939 | MYO7A | c.3552C>T (p.Ser1184=) c.1393C>T c.3519C>T (p.Ser1173=) c.1095C>T (p.Ser365=) n.79C>T n.1095C>T c.3462C>T (p.Ser1154=) c.3333C>T (p.Ser1111=) c.3321C>T (p.Ser1107=) c.3294C>T (p.Ser1098=) n.3872C>T n.3874C>T c.3642C>T (p.Ser1214=) c.3411C>T (p.Ser1137=) n.3657C>T | |
11 | g.77189393A>C | CA381946928 | MYO7A | c.3553A>C (p.Lys1185Gln) c.1394A>C c.3520A>C (p.Lys1174Gln) c.1096A>C (p.Lys366Gln) n.80A>C n.1096A>C c.3463A>C (p.Lys1155Gln) c.3334A>C (p.Lys1112Gln) c.3322A>C (p.Lys1108Gln) c.3295A>C (p.Lys1099Gln) n.3873A>C n.3875A>C c.3643A>C (p.Lys1215Gln) c.3412A>C (p.Lys1138Gln) n.3658A>C | |
11 | g.77189393A>G | CA381946929 | MYO7A | c.3553A>G (p.Lys1185Glu) c.1394A>G c.3520A>G (p.Lys1174Glu) c.1096A>G (p.Lys366Glu) n.80A>G n.1096A>G c.3463A>G (p.Lys1155Glu) c.3334A>G (p.Lys1112Glu) c.3322A>G (p.Lys1108Glu) c.3295A>G (p.Lys1099Glu) n.3873A>G n.3875A>G c.3643A>G (p.Lys1215Glu) c.3412A>G (p.Lys1138Glu) n.3658A>G | gnomAD v4 |
11 | g.77189393A>T | CA381946927 | MYO7A | c.3553A>T (p.Lys1185Ter) c.1394A>T c.3520A>T (p.Lys1174Ter) c.1096A>T (p.Lys366Ter) n.80A>T n.1096A>T c.3463A>T (p.Lys1155Ter) c.3334A>T (p.Lys1112Ter) c.3322A>T (p.Lys1108Ter) c.3295A>T (p.Lys1099Ter) n.3873A>T n.3875A>T c.3643A>T (p.Lys1215Ter) c.3412A>T (p.Lys1138Ter) n.3658A>T | |
11 | g.77189394A>C | CA381946930 | MYO7A | c.3554A>C (p.Lys1185Thr) c.1395A>C c.3521A>C (p.Lys1174Thr) c.1097A>C (p.Lys366Thr) n.81A>C n.1097A>C c.3464A>C (p.Lys1155Thr) c.3335A>C (p.Lys1112Thr) c.3323A>C (p.Lys1108Thr) c.3296A>C (p.Lys1099Thr) n.3874A>C n.3876A>C c.3644A>C (p.Lys1215Thr) c.3413A>C (p.Lys1138Thr) n.3659A>C | |
11 | g.77189394A>G | CA381946931 | MYO7A | c.3554A>G (p.Lys1185Arg) c.1395A>G c.3521A>G (p.Lys1174Arg) c.1097A>G (p.Lys366Arg) n.81A>G n.1097A>G c.3464A>G (p.Lys1155Arg) c.3335A>G (p.Lys1112Arg) c.3323A>G (p.Lys1108Arg) c.3296A>G (p.Lys1099Arg) n.3874A>G n.3876A>G c.3644A>G (p.Lys1215Arg) c.3413A>G (p.Lys1138Arg) n.3659A>G | gnomAD v4 |
11 | g.77189394A>T | CA381946932 | MYO7A | c.3554A>T (p.Lys1185Met) c.1395A>T c.3521A>T (p.Lys1174Met) c.1097A>T (p.Lys366Met) n.81A>T n.1097A>T c.3464A>T (p.Lys1155Met) c.3335A>T (p.Lys1112Met) c.3323A>T (p.Lys1108Met) c.3296A>T (p.Lys1099Met) n.3874A>T n.3876A>T c.3644A>T (p.Lys1215Met) c.3413A>T (p.Lys1138Met) n.3659A>T | |
11 | g.77189395G>A | CA6198111 | MYO7A | c.3555G>A (p.Lys1185=) c.1396G>A c.3522G>A (p.Lys1174=) c.1098G>A (p.Lys366=) n.82G>A n.1098G>A c.3465G>A (p.Lys1155=) c.3336G>A (p.Lys1112=) c.3324G>A (p.Lys1108=) c.3297G>A (p.Lys1099=) n.3875G>A n.3877G>A c.3645G>A (p.Lys1215=) c.3414G>A (p.Lys1138=) n.3660G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189395G>C | CA381946933 | MYO7A | c.3555G>C (p.Lys1185Asn) c.1396G>C c.3522G>C (p.Lys1174Asn) c.1098G>C (p.Lys366Asn) n.82G>C n.1098G>C c.3465G>C (p.Lys1155Asn) c.3336G>C (p.Lys1112Asn) c.3324G>C (p.Lys1108Asn) c.3297G>C (p.Lys1099Asn) n.3875G>C n.3877G>C c.3645G>C (p.Lys1215Asn) c.3414G>C (p.Lys1138Asn) n.3660G>C | |
11 | g.77189395G= | CA1984122446 | MYO7A | c.3555G= (p.Lys1185=) c.1396G= c.3522G= (p.Lys1174=) c.1098G= (p.Lys366=) n.82G= n.1098G= c.3465G= (p.Lys1155=) c.3336G= (p.Lys1112=) c.3324G= (p.Lys1108=) c.3297G= (p.Lys1099=) n.3875G= n.3877G= c.3645G= (p.Lys1215=) c.3414G= (p.Lys1138=) n.3660G= | |
11 | g.77189395G>T | CA381946934 | MYO7A | c.3555G>T (p.Lys1185Asn) c.1396G>T c.3522G>T (p.Lys1174Asn) c.1098G>T (p.Lys366Asn) n.82G>T n.1098G>T c.3465G>T (p.Lys1155Asn) c.3336G>T (p.Lys1112Asn) c.3324G>T (p.Lys1108Asn) c.3297G>T (p.Lys1099Asn) n.3875G>T n.3877G>T c.3645G>T (p.Lys1215Asn) c.3414G>T (p.Lys1138Asn) n.3660G>T | |
11 | g.77189396A>C | CA381946937 | MYO7A | c.3556A>C (p.Ser1186Arg) c.1397A>C c.3523A>C (p.Ser1175Arg) c.1099A>C (p.Ser367Arg) n.83A>C n.1099A>C c.3466A>C (p.Ser1156Arg) c.3337A>C (p.Ser1113Arg) c.3325A>C (p.Ser1109Arg) c.3298A>C (p.Ser1100Arg) n.3876A>C n.3878A>C c.3646A>C (p.Ser1216Arg) c.3415A>C (p.Ser1139Arg) n.3661A>C | |
11 | g.77189396A>G | CA381946935 | MYO7A | c.3556A>G (p.Ser1186Gly) c.1397A>G c.3523A>G (p.Ser1175Gly) c.1099A>G (p.Ser367Gly) n.83A>G n.1099A>G c.3466A>G (p.Ser1156Gly) c.3337A>G (p.Ser1113Gly) c.3325A>G (p.Ser1109Gly) c.3298A>G (p.Ser1100Gly) n.3876A>G n.3878A>G c.3646A>G (p.Ser1216Gly) c.3415A>G (p.Ser1139Gly) n.3661A>G | |
11 | g.77189396A>T | CA381946936 | MYO7A | c.3556A>T (p.Ser1186Cys) c.1397A>T c.3523A>T (p.Ser1175Cys) c.1099A>T (p.Ser367Cys) n.83A>T n.1099A>T c.3466A>T (p.Ser1156Cys) c.3337A>T (p.Ser1113Cys) c.3325A>T (p.Ser1109Cys) c.3298A>T (p.Ser1100Cys) n.3876A>T n.3878A>T c.3646A>T (p.Ser1216Cys) c.3415A>T (p.Ser1139Cys) n.3661A>T | |
11 | g.77189397G>A | CA6198112 | MYO7A | c.3557G>A (p.Ser1186Asn) c.1398G>A c.3524G>A (p.Ser1175Asn) c.1100G>A (p.Ser367Asn) n.84G>A n.1100G>A c.3467G>A (p.Ser1156Asn) c.3338G>A (p.Ser1113Asn) c.3326G>A (p.Ser1109Asn) c.3299G>A (p.Ser1100Asn) n.3877G>A n.3879G>A c.3647G>A (p.Ser1216Asn) c.3416G>A (p.Ser1139Asn) n.3662G>A | dbSNP ExAC gnomAD v2 |
11 | g.77189397G>C | CA381946938 | MYO7A | c.3557G>C (p.Ser1186Thr) c.1398G>C c.3524G>C (p.Ser1175Thr) c.1100G>C (p.Ser367Thr) n.84G>C n.1100G>C c.3467G>C (p.Ser1156Thr) c.3338G>C (p.Ser1113Thr) c.3326G>C (p.Ser1109Thr) c.3299G>C (p.Ser1100Thr) n.3877G>C n.3879G>C c.3647G>C (p.Ser1216Thr) c.3416G>C (p.Ser1139Thr) n.3662G>C | |
11 | g.77189397G= | CA1984122451 | MYO7A | c.3557G= (p.Ser1186=) c.1398G= c.3524G= (p.Ser1175=) c.1100G= (p.Ser367=) n.84G= n.1100G= c.3467G= (p.Ser1156=) c.3338G= (p.Ser1113=) c.3326G= (p.Ser1109=) c.3299G= (p.Ser1100=) n.3877G= n.3879G= c.3647G= (p.Ser1216=) c.3416G= (p.Ser1139=) n.3662G= | |
11 | g.77189397G>T | CA381946939 | MYO7A | c.3557G>T (p.Ser1186Ile) c.1398G>T c.3524G>T (p.Ser1175Ile) c.1100G>T (p.Ser367Ile) n.84G>T n.1100G>T c.3467G>T (p.Ser1156Ile) c.3338G>T (p.Ser1113Ile) c.3326G>T (p.Ser1109Ile) c.3299G>T (p.Ser1100Ile) n.3877G>T n.3879G>T c.3647G>T (p.Ser1216Ile) c.3416G>T (p.Ser1139Ile) n.3662G>T | |
11 | g.77189398C>A | CA381946940 | MYO7A | c.3558C>A (p.Ser1186Arg) c.1399C>A c.3525C>A (p.Ser1175Arg) c.1101C>A (p.Ser367Arg) n.85C>A n.1101C>A c.3468C>A (p.Ser1156Arg) c.3339C>A (p.Ser1113Arg) c.3327C>A (p.Ser1109Arg) c.3300C>A (p.Ser1100Arg) n.3878C>A n.3880C>A c.3648C>A (p.Ser1216Arg) c.3417C>A (p.Ser1139Arg) n.3663C>A | COSMIC |
11 | g.77189398C>G | CA381946941 | MYO7A | c.3558C>G (p.Ser1186Arg) c.1399C>G c.3525C>G (p.Ser1175Arg) c.1101C>G (p.Ser367Arg) n.85C>G n.1101C>G c.3468C>G (p.Ser1156Arg) c.3339C>G (p.Ser1113Arg) c.3327C>G (p.Ser1109Arg) c.3300C>G (p.Ser1100Arg) n.3878C>G n.3880C>G c.3648C>G (p.Ser1216Arg) c.3417C>G (p.Ser1139Arg) n.3663C>G | |
11 | g.77189398C>T | CA475795940 | MYO7A | c.3558C>T (p.Ser1186=) c.1399C>T c.3525C>T (p.Ser1175=) c.1101C>T (p.Ser367=) n.85C>T n.1101C>T c.3468C>T (p.Ser1156=) c.3339C>T (p.Ser1113=) c.3327C>T (p.Ser1109=) c.3300C>T (p.Ser1100=) n.3878C>T n.3880C>T c.3648C>T (p.Ser1216=) c.3417C>T (p.Ser1139=) n.3663C>T | |
11 | g.77189399A>C | CA381946942 | MYO7A | c.3559A>C (p.Ser1187Arg) c.1400A>C c.3526A>C (p.Ser1176Arg) c.1102A>C (p.Ser368Arg) n.86A>C n.1102A>C c.3469A>C (p.Ser1157Arg) c.3340A>C (p.Ser1114Arg) c.3328A>C (p.Ser1110Arg) c.3301A>C (p.Ser1101Arg) n.3879A>C n.3881A>C c.3649A>C (p.Ser1217Arg) c.3418A>C (p.Ser1140Arg) n.3664A>C | |
11 | g.77189399A>G | CA381946944 | MYO7A | c.3559A>G (p.Ser1187Gly) c.1400A>G c.3526A>G (p.Ser1176Gly) c.1102A>G (p.Ser368Gly) n.86A>G n.1102A>G c.3469A>G (p.Ser1157Gly) c.3340A>G (p.Ser1114Gly) c.3328A>G (p.Ser1110Gly) c.3301A>G (p.Ser1101Gly) n.3879A>G n.3881A>G c.3649A>G (p.Ser1217Gly) c.3418A>G (p.Ser1140Gly) n.3664A>G | |
11 | g.77189399A>T | CA381946943 | MYO7A | c.3559A>T (p.Ser1187Cys) c.1400A>T c.3526A>T (p.Ser1176Cys) c.1102A>T (p.Ser368Cys) n.86A>T n.1102A>T c.3469A>T (p.Ser1157Cys) c.3340A>T (p.Ser1114Cys) c.3328A>T (p.Ser1110Cys) c.3301A>T (p.Ser1101Cys) n.3879A>T n.3881A>T c.3649A>T (p.Ser1217Cys) c.3418A>T (p.Ser1140Cys) n.3664A>T | |
11 | g.77189400G>A | CA381946945 | MYO7A | c.3560G>A (p.Ser1187Asn) c.1401G>A c.3527G>A (p.Ser1176Asn) c.1103G>A (p.Ser368Asn) n.87G>A n.1103G>A c.3470G>A (p.Ser1157Asn) c.3341G>A (p.Ser1114Asn) c.3329G>A (p.Ser1110Asn) c.3302G>A (p.Ser1101Asn) n.3880G>A n.3882G>A c.3650G>A (p.Ser1217Asn) c.3419G>A (p.Ser1140Asn) n.3665G>A | |
11 | g.77189400G>C | CA381946946 | MYO7A | c.3560G>C (p.Ser1187Thr) c.1401G>C c.3527G>C (p.Ser1176Thr) c.1103G>C (p.Ser368Thr) n.87G>C n.1103G>C c.3470G>C (p.Ser1157Thr) c.3341G>C (p.Ser1114Thr) c.3329G>C (p.Ser1110Thr) c.3302G>C (p.Ser1101Thr) n.3880G>C n.3882G>C c.3650G>C (p.Ser1217Thr) c.3419G>C (p.Ser1140Thr) n.3665G>C | |
11 | g.77189400G= | CA1984122457 | MYO7A | c.3560G= (p.Ser1187=) c.1401G= c.3527G= (p.Ser1176=) c.1103G= (p.Ser368=) n.87G= n.1103G= c.3470G= (p.Ser1157=) c.3341G= (p.Ser1114=) c.3329G= (p.Ser1110=) c.3302G= (p.Ser1101=) n.3880G= n.3882G= c.3650G= (p.Ser1217=) c.3419G= (p.Ser1140=) n.3665G= | |
11 | g.77189400G>T | CA381946947 | MYO7A | c.3560G>T (p.Ser1187Ile) c.1401G>T c.3527G>T (p.Ser1176Ile) c.1103G>T (p.Ser368Ile) n.87G>T n.1103G>T c.3470G>T (p.Ser1157Ile) c.3341G>T (p.Ser1114Ile) c.3329G>T (p.Ser1110Ile) c.3302G>T (p.Ser1101Ile) n.3880G>T n.3882G>T c.3650G>T (p.Ser1217Ile) c.3419G>T (p.Ser1140Ile) n.3665G>T | ClinVar dbSNP |
11 | g.77189401C>A | CA381946948 | MYO7A | c.3561C>A (p.Ser1187Arg) c.1402C>A c.3528C>A (p.Ser1176Arg) c.1104C>A (p.Ser368Arg) n.88C>A n.1104C>A c.3471C>A (p.Ser1157Arg) c.3342C>A (p.Ser1114Arg) c.3330C>A (p.Ser1110Arg) c.3303C>A (p.Ser1101Arg) n.3881C>A n.3883C>A c.3651C>A (p.Ser1217Arg) c.3420C>A (p.Ser1140Arg) n.3666C>A | |
11 | g.77189401C>G | CA381946949 | MYO7A | c.3561C>G (p.Ser1187Arg) c.1402C>G c.3528C>G (p.Ser1176Arg) c.1104C>G (p.Ser368Arg) n.88C>G n.1104C>G c.3471C>G (p.Ser1157Arg) c.3342C>G (p.Ser1114Arg) c.3330C>G (p.Ser1110Arg) c.3303C>G (p.Ser1101Arg) n.3881C>G n.3883C>G c.3651C>G (p.Ser1217Arg) c.3420C>G (p.Ser1140Arg) n.3666C>G | |
11 | g.77189401C>T | CA475795941 | MYO7A | c.3561C>T (p.Ser1187=) c.1402C>T c.3528C>T (p.Ser1176=) c.1104C>T (p.Ser368=) n.88C>T n.1104C>T c.3471C>T (p.Ser1157=) c.3342C>T (p.Ser1114=) c.3330C>T (p.Ser1110=) c.3303C>T (p.Ser1101=) n.3881C>T n.3883C>T c.3651C>T (p.Ser1217=) c.3420C>T (p.Ser1140=) n.3666C>T | |
11 | g.77189402T>A | CA381946950 | MYO7A | c.3562T>A (p.Tyr1188Asn) c.1403T>A c.3529T>A (p.Tyr1177Asn) c.1105T>A (p.Tyr369Asn) n.89T>A n.1105T>A c.3472T>A (p.Tyr1158Asn) c.3343T>A (p.Tyr1115Asn) c.3331T>A (p.Tyr1111Asn) c.3304T>A (p.Tyr1102Asn) n.3882T>A n.3884T>A c.3652T>A (p.Tyr1218Asn) c.3421T>A (p.Tyr1141Asn) n.3667T>A | |
11 | g.77189402T>C | CA381946951 | MYO7A | c.3562T>C (p.Tyr1188His) c.1403T>C c.3529T>C (p.Tyr1177His) c.1105T>C (p.Tyr369His) n.89T>C n.1105T>C c.3472T>C (p.Tyr1158His) c.3343T>C (p.Tyr1115His) c.3331T>C (p.Tyr1111His) c.3304T>C (p.Tyr1102His) n.3882T>C n.3884T>C c.3652T>C (p.Tyr1218His) c.3421T>C (p.Tyr1141His) n.3667T>C | |
11 | g.77189402T>G | CA381946952 | MYO7A | c.3562T>G (p.Tyr1188Asp) c.1403T>G c.3529T>G (p.Tyr1177Asp) c.1105T>G (p.Tyr369Asp) n.89T>G n.1105T>G c.3472T>G (p.Tyr1158Asp) c.3343T>G (p.Tyr1115Asp) c.3331T>G (p.Tyr1111Asp) c.3304T>G (p.Tyr1102Asp) n.3882T>G n.3884T>G c.3652T>G (p.Tyr1218Asp) c.3421T>G (p.Tyr1141Asp) n.3667T>G | |
11 | g.77189403A= | CA1984122466 | MYO7A | c.3563A= (p.Tyr1188=) c.1404A= c.3530A= (p.Tyr1177=) c.1106A= (p.Tyr369=) n.90A= n.1106A= c.3473A= (p.Tyr1158=) c.3344A= (p.Tyr1115=) c.3332A= (p.Tyr1111=) c.3305A= (p.Tyr1102=) n.3883A= n.3885A= c.3653A= (p.Tyr1218=) c.3422A= (p.Tyr1141=) n.3668A= | |
11 | g.77189403A>C | CA381946953 | MYO7A | c.3563A>C (p.Tyr1188Ser) c.1404A>C c.3530A>C (p.Tyr1177Ser) c.1106A>C (p.Tyr369Ser) n.90A>C n.1106A>C c.3473A>C (p.Tyr1158Ser) c.3344A>C (p.Tyr1115Ser) c.3332A>C (p.Tyr1111Ser) c.3305A>C (p.Tyr1102Ser) n.3883A>C n.3885A>C c.3653A>C (p.Tyr1218Ser) c.3422A>C (p.Tyr1141Ser) n.3668A>C | |
11 | g.77189403A>G | CA6198113 | MYO7A | c.3563A>G (p.Tyr1188Cys) c.1404A>G c.3530A>G (p.Tyr1177Cys) c.1106A>G (p.Tyr369Cys) n.90A>G n.1106A>G c.3473A>G (p.Tyr1158Cys) c.3344A>G (p.Tyr1115Cys) c.3332A>G (p.Tyr1111Cys) c.3305A>G (p.Tyr1102Cys) n.3883A>G n.3885A>G c.3653A>G (p.Tyr1218Cys) c.3422A>G (p.Tyr1141Cys) n.3668A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77189403A>T | CA381946954 | MYO7A | c.3563A>T (p.Tyr1188Phe) c.1404A>T c.3530A>T (p.Tyr1177Phe) c.1106A>T (p.Tyr369Phe) n.90A>T n.1106A>T c.3473A>T (p.Tyr1158Phe) c.3344A>T (p.Tyr1115Phe) c.3332A>T (p.Tyr1111Phe) c.3305A>T (p.Tyr1102Phe) n.3883A>T n.3885A>T c.3653A>T (p.Tyr1218Phe) c.3422A>T (p.Tyr1141Phe) n.3668A>T | |
11 | g.77189403_77189410delinsATGCCCGG | CA1984122461 | MYO7A | c.3563_3570delinsATGCCCGG (p.Tyr1188=) c.1404_1411delinsATGCCCGG c.3530_3537delinsATGCCCGG (p.Tyr1177=) c.1106_1113delinsATGCCCGG (p.Tyr369=) n.90_97delinsATGCCCGG n.1106_1113delinsATGCCCGG c.3473_3480delinsATGCCCGG (p.Tyr1158=) c.3344_3351delinsATGCCCGG (p.Tyr1115=) c.3332_3339delinsATGCCCGG (p.Tyr1111=) c.3305_3312delinsATGCCCGG (p.Tyr1102=) n.3883_3890delinsATGCCCGG n.3885_3892delinsATGCCCGG c.3653_3660delinsATGCCCGG (p.Tyr1218=) c.3422_3429delinsATGCCCGG (p.Tyr1141=) n.3668_3675delinsATGCCCGG | |
11 | g.77189403_77189411delinsATGCCCGGG | CA1984122464 | MYO7A | c.3563_3571delinsATGCCCGGG (p.Tyr1188=) c.1404_1412delinsATGCCCGGG c.3530_3538delinsATGCCCGGG (p.Tyr1177=) c.1106_1114delinsATGCCCGGG (p.Tyr369=) n.90_98delinsATGCCCGGG n.1106_1114delinsATGCCCGGG c.3473_3481delinsATGCCCGGG (p.Tyr1158=) c.3344_3352delinsATGCCCGGG (p.Tyr1115=) c.3332_3340delinsATGCCCGGG (p.Tyr1111=) c.3305_3313delinsATGCCCGGG (p.Tyr1102=) n.3883_3891delinsATGCCCGGG n.3885_3893delinsATGCCCGGG c.3653_3661delinsATGCCCGGG (p.Tyr1218=) c.3422_3430delinsATGCCCGGG (p.Tyr1141=) n.3668_3676delinsATGCCCGGG | |
11 | g.77189404T>A | CA381946955 | MYO7A | c.3564T>A (p.Tyr1188Ter) c.1405T>A c.3531T>A (p.Tyr1177Ter) c.1107T>A (p.Tyr369Ter) n.91T>A n.1107T>A c.3474T>A (p.Tyr1158Ter) c.3345T>A (p.Tyr1115Ter) c.3333T>A (p.Tyr1111Ter) c.3306T>A (p.Tyr1102Ter) n.3884T>A n.3886T>A c.3654T>A (p.Tyr1218Ter) c.3423T>A (p.Tyr1141Ter) n.3669T>A | |
11 | g.77189404T>C | CA475795942 | MYO7A | c.3564T>C (p.Tyr1188=) c.1405T>C c.3531T>C (p.Tyr1177=) c.1107T>C (p.Tyr369=) n.91T>C n.1107T>C c.3474T>C (p.Tyr1158=) c.3345T>C (p.Tyr1115=) c.3333T>C (p.Tyr1111=) c.3306T>C (p.Tyr1102=) n.3884T>C n.3886T>C c.3654T>C (p.Tyr1218=) c.3423T>C (p.Tyr1141=) n.3669T>C | dbSNP |
11 | g.77189404T>G | CA381946956 | MYO7A | c.3564T>G (p.Tyr1188Ter) c.1405T>G c.3531T>G (p.Tyr1177Ter) c.1107T>G (p.Tyr369Ter) n.91T>G n.1107T>G c.3474T>G (p.Tyr1158Ter) c.3345T>G (p.Tyr1115Ter) c.3333T>G (p.Tyr1111Ter) c.3306T>G (p.Tyr1102Ter) n.3884T>G n.3886T>G c.3654T>G (p.Tyr1218Ter) c.3423T>G (p.Tyr1141Ter) n.3669T>G | |
11 | g.77189404T= | CA1984122470 | MYO7A | c.3564T= (p.Tyr1188=) c.1405T= c.3531T= (p.Tyr1177=) c.1107T= (p.Tyr369=) n.91T= n.1107T= c.3474T= (p.Tyr1158=) c.3345T= (p.Tyr1115=) c.3333T= (p.Tyr1111=) c.3306T= (p.Tyr1102=) n.3884T= n.3886T= c.3654T= (p.Tyr1218=) c.3423T= (p.Tyr1141=) n.3669T= | |
11 | g.77189404_77189410del | CA1984122469 | MYO7A | c.3564_3570del (p.Tyr1188Ter) c.1405_1411del c.3531_3537del (p.Tyr1177Ter) c.1107_1113del (p.Tyr369Ter) n.91_97del n.1107_1113del c.3474_3480del (p.Tyr1158Ter) c.3345_3351del (p.Tyr1115Ter) c.3333_3339del (p.Tyr1111Ter) c.3306_3312del (p.Tyr1102Ter) n.3884_3890del n.3886_3892del c.3654_3660del (p.Tyr1218Ter) c.3423_3429del (p.Tyr1141Ter) n.3669_3675del | ClinVar dbSNP |
11 | g.77189404_77189410delinsA | CA2695214998 | MYO7A | c.3564_3570delinsA (p.Tyr1188Ter) c.1405_1411delinsA c.3531_3537delinsA (p.Tyr1177Ter) c.1107_1113delinsA (p.Tyr369Ter) n.91_97delinsA n.1107_1113delinsA c.3474_3480delinsA (p.Tyr1158Ter) c.3345_3351delinsA (p.Tyr1115Ter) c.3333_3339delinsA (p.Tyr1111Ter) c.3306_3312delinsA (p.Tyr1102Ter) n.3884_3890delinsA n.3886_3892delinsA c.3654_3660delinsA (p.Tyr1218Ter) c.3423_3429delinsA (p.Tyr1141Ter) n.3669_3675delinsA | |
11 | g.77189404_77189411delinsA | CA278742 | MYO7A | c.3564_3571delinsA (p.Tyr1188Ter) c.1405_1412delinsA c.3531_3538delinsA (p.Tyr1177Ter) c.1107_1114delinsA (p.Tyr369Ter) n.91_98delinsA n.1107_1114delinsA c.3474_3481delinsA (p.Tyr1158Ter) c.3345_3352delinsA (p.Tyr1115Ter) c.3333_3340delinsA (p.Tyr1111Ter) c.3306_3313delinsA (p.Tyr1102Ter) n.3884_3891delinsA n.3886_3893delinsA c.3654_3661delinsA (p.Tyr1218Ter) c.3423_3430delinsA (p.Tyr1141Ter) n.3669_3676delinsA | ClinVar dbSNP |
11 | g.77189405G>A | CA381946957 | MYO7A | c.3565G>A (p.Ala1189Thr) c.1406G>A c.3532G>A (p.Ala1178Thr) c.1108G>A (p.Ala370Thr) n.92G>A n.1108G>A c.3475G>A (p.Ala1159Thr) c.3346G>A (p.Ala1116Thr) c.3334G>A (p.Ala1112Thr) c.3307G>A (p.Ala1103Thr) n.3885G>A n.3887G>A c.3655G>A (p.Ala1219Thr) c.3424G>A (p.Ala1142Thr) n.3670G>A | |
11 | g.77189405G>C | CA381946959 | MYO7A | c.3565G>C (p.Ala1189Pro) c.1406G>C c.3532G>C (p.Ala1178Pro) c.1108G>C (p.Ala370Pro) n.92G>C n.1108G>C c.3475G>C (p.Ala1159Pro) c.3346G>C (p.Ala1116Pro) c.3334G>C (p.Ala1112Pro) c.3307G>C (p.Ala1103Pro) n.3885G>C n.3887G>C c.3655G>C (p.Ala1219Pro) c.3424G>C (p.Ala1142Pro) n.3670G>C | |
11 | g.77189405G>T | CA381946958 | MYO7A | c.3565G>T (p.Ala1189Ser) c.1406G>T c.3532G>T (p.Ala1178Ser) c.1108G>T (p.Ala370Ser) n.92G>T n.1108G>T c.3475G>T (p.Ala1159Ser) c.3346G>T (p.Ala1116Ser) c.3334G>T (p.Ala1112Ser) c.3307G>T (p.Ala1103Ser) n.3885G>T n.3887G>T c.3655G>T (p.Ala1219Ser) c.3424G>T (p.Ala1142Ser) n.3670G>T | |
11 | g.77189406C>A | CA381946960 | MYO7A | c.3566C>A (p.Ala1189Asp) c.1407C>A c.3533C>A (p.Ala1178Asp) c.1109C>A (p.Ala370Asp) n.93C>A n.1109C>A c.3476C>A (p.Ala1159Asp) c.3347C>A (p.Ala1116Asp) c.3335C>A (p.Ala1112Asp) c.3308C>A (p.Ala1103Asp) n.3886C>A n.3888C>A c.3656C>A (p.Ala1219Asp) c.3425C>A (p.Ala1142Asp) n.3671C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77189406C= | CA1984122472 | MYO7A | c.3566C= (p.Ala1189=) c.1407C= c.3533C= (p.Ala1178=) c.1109C= (p.Ala370=) n.93C= n.1109C= c.3476C= (p.Ala1159=) c.3347C= (p.Ala1116=) c.3335C= (p.Ala1112=) c.3308C= (p.Ala1103=) n.3886C= n.3888C= c.3656C= (p.Ala1219=) c.3425C= (p.Ala1142=) n.3671C= | |
11 | g.77189406C>G | CA381946961 | MYO7A | c.3566C>G (p.Ala1189Gly) c.1407C>G c.3533C>G (p.Ala1178Gly) c.1109C>G (p.Ala370Gly) n.93C>G n.1109C>G c.3476C>G (p.Ala1159Gly) c.3347C>G (p.Ala1116Gly) c.3335C>G (p.Ala1112Gly) c.3308C>G (p.Ala1103Gly) n.3886C>G n.3888C>G c.3656C>G (p.Ala1219Gly) c.3425C>G (p.Ala1142Gly) n.3671C>G | |
11 | g.77189406C>T | CA6198114 | MYO7A | c.3566C>T (p.Ala1189Val) c.1407C>T c.3533C>T (p.Ala1178Val) c.1109C>T (p.Ala370Val) n.93C>T n.1109C>T c.3476C>T (p.Ala1159Val) c.3347C>T (p.Ala1116Val) c.3335C>T (p.Ala1112Val) c.3308C>T (p.Ala1103Val) n.3886C>T n.3888C>T c.3656C>T (p.Ala1219Val) c.3425C>T (p.Ala1142Val) n.3671C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77189407C>A | CA475795943 | MYO7A | c.3567C>A (p.Ala1189=) c.1408C>A c.3534C>A (p.Ala1178=) c.1110C>A (p.Ala370=) n.94C>A n.1110C>A c.3477C>A (p.Ala1159=) c.3348C>A (p.Ala1116=) c.3336C>A (p.Ala1112=) c.3309C>A (p.Ala1103=) n.3887C>A n.3889C>A c.3657C>A (p.Ala1219=) c.3426C>A (p.Ala1142=) n.3672C>A | |
11 | g.77189407C= | CA1984122475 | MYO7A | c.3567C= (p.Ala1189=) c.1408C= c.3534C= (p.Ala1178=) c.1110C= (p.Ala370=) n.94C= n.1110C= c.3477C= (p.Ala1159=) c.3348C= (p.Ala1116=) c.3336C= (p.Ala1112=) c.3309C= (p.Ala1103=) n.3887C= n.3889C= c.3657C= (p.Ala1219=) c.3426C= (p.Ala1142=) n.3672C= | |
11 | g.77189407C>G | CA475795944 | MYO7A | c.3567C>G (p.Ala1189=) c.1408C>G c.3534C>G (p.Ala1178=) c.1110C>G (p.Ala370=) n.94C>G n.1110C>G c.3477C>G (p.Ala1159=) c.3348C>G (p.Ala1116=) c.3336C>G (p.Ala1112=) c.3309C>G (p.Ala1103=) n.3887C>G n.3889C>G c.3657C>G (p.Ala1219=) c.3426C>G (p.Ala1142=) n.3672C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77189407C>T | CA6198115 | MYO7A | c.3567C>T (p.Ala1189=) c.1408C>T c.3534C>T (p.Ala1178=) c.1110C>T (p.Ala370=) n.94C>T n.1110C>T c.3477C>T (p.Ala1159=) c.3348C>T (p.Ala1116=) c.3336C>T (p.Ala1112=) c.3309C>T (p.Ala1103=) n.3887C>T n.3889C>T c.3657C>T (p.Ala1219=) c.3426C>T (p.Ala1142=) n.3672C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.77189407_77189408delinsTT | CA645585229 | MYO7A | c.3567_3568delinsTT (p.Arg1190Trp) c.1408_1409delinsTT c.3534_3535delinsTT (p.Arg1179Trp) c.1110_1111delinsTT (p.Arg371Trp) n.94_95delinsTT n.1110_1111delinsTT c.3477_3478delinsTT (p.Arg1160Trp) c.3348_3349delinsTT (p.Arg1117Trp) c.3336_3337delinsTT (p.Arg1113Trp) c.3309_3310delinsTT (p.Arg1104Trp) n.3887_3888delinsTT n.3889_3890delinsTT c.3657_3658delinsTT (p.Arg1220Trp) c.3426_3427delinsTT (p.Arg1143Trp) n.3672_3673delinsTT | COSMIC |
11 | g.77189408C>A | CA475795945 | MYO7A | c.3568C>A (p.Arg1190=) c.1409C>A c.3535C>A (p.Arg1179=) c.1111C>A (p.Arg371=) n.95C>A n.1111C>A c.3478C>A (p.Arg1160=) c.3349C>A (p.Arg1117=) c.3337C>A (p.Arg1113=) c.3310C>A (p.Arg1104=) n.3888C>A n.3890C>A c.3658C>A (p.Arg1220=) c.3427C>A (p.Arg1143=) n.3673C>A | |
11 | g.77189408C= | CA1984122477 | MYO7A | c.3568C= (p.Arg1190=) c.1409C= c.3535C= (p.Arg1179=) c.1111C= (p.Arg371=) n.95C= n.1111C= c.3478C= (p.Arg1160=) c.3349C= (p.Arg1117=) c.3337C= (p.Arg1113=) c.3310C= (p.Arg1104=) n.3888C= n.3890C= c.3658C= (p.Arg1220=) c.3427C= (p.Arg1143=) n.3673C= | |
11 | g.77189408C>G | CA6198117 | MYO7A | c.3568C>G (p.Arg1190Gly) c.1409C>G c.3535C>G (p.Arg1179Gly) c.1111C>G (p.Arg371Gly) n.95C>G n.1111C>G c.3478C>G (p.Arg1160Gly) c.3349C>G (p.Arg1117Gly) c.3337C>G (p.Arg1113Gly) c.3310C>G (p.Arg1104Gly) n.3888C>G n.3890C>G c.3658C>G (p.Arg1220Gly) c.3427C>G (p.Arg1143Gly) n.3673C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77189408C>T | CA6198116 | MYO7A | c.3568C>T (p.Arg1190Trp) c.1409C>T c.3535C>T (p.Arg1179Trp) c.1111C>T (p.Arg371Trp) n.95C>T n.1111C>T c.3478C>T (p.Arg1160Trp) c.3349C>T (p.Arg1117Trp) c.3337C>T (p.Arg1113Trp) c.3310C>T (p.Arg1104Trp) n.3888C>T n.3890C>T c.3658C>T (p.Arg1220Trp) c.3427C>T (p.Arg1143Trp) n.3673C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189409G>A | CA6198118 | MYO7A | c.3569G>A (p.Arg1190Gln) c.1410G>A c.3536G>A (p.Arg1179Gln) c.1112G>A (p.Arg371Gln) n.96G>A n.1112G>A c.3479G>A (p.Arg1160Gln) c.3350G>A (p.Arg1117Gln) c.3338G>A (p.Arg1113Gln) c.3311G>A (p.Arg1104Gln) n.3889G>A n.3891G>A c.3659G>A (p.Arg1220Gln) c.3428G>A (p.Arg1143Gln) n.3674G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189409G>C | CA381946962 | MYO7A | c.3569G>C (p.Arg1190Pro) c.1410G>C c.3536G>C (p.Arg1179Pro) c.1112G>C (p.Arg371Pro) n.96G>C n.1112G>C c.3479G>C (p.Arg1160Pro) c.3350G>C (p.Arg1117Pro) c.3338G>C (p.Arg1113Pro) c.3311G>C (p.Arg1104Pro) n.3889G>C n.3891G>C c.3659G>C (p.Arg1220Pro) c.3428G>C (p.Arg1143Pro) n.3674G>C | |
11 | g.77189409G= | CA1984122479 | MYO7A | c.3569G= (p.Arg1190=) c.1410G= c.3536G= (p.Arg1179=) c.1112G= (p.Arg371=) n.96G= n.1112G= c.3479G= (p.Arg1160=) c.3350G= (p.Arg1117=) c.3338G= (p.Arg1113=) c.3311G= (p.Arg1104=) n.3889G= n.3891G= c.3659G= (p.Arg1220=) c.3428G= (p.Arg1143=) n.3674G= | |
11 | g.77189409G>T | CA381946963 | MYO7A | c.3569G>T (p.Arg1190Leu) c.1410G>T c.3536G>T (p.Arg1179Leu) c.1112G>T (p.Arg371Leu) n.96G>T n.1112G>T c.3479G>T (p.Arg1160Leu) c.3350G>T (p.Arg1117Leu) c.3338G>T (p.Arg1113Leu) c.3311G>T (p.Arg1104Leu) n.3889G>T n.3891G>T c.3659G>T (p.Arg1220Leu) c.3428G>T (p.Arg1143Leu) n.3674G>T | |
11 | g.77189412dup | CA2792787223 | MYO7A | c.3572dup (p.Trp1192LeufsTer?) c.1413dup c.3539dup (p.Trp1181LeufsTer?) c.1115dup (p.Trp373LeufsTer?) n.99dup n.1115dup c.3482dup (p.Trp1162LeufsTer?) c.3353dup (p.Trp1119LeufsTer?) c.3341dup (p.Trp1115LeufsTer?) c.3314dup (p.Trp1106LeufsTer?) n.3892dup n.3894dup c.3662dup (p.Trp1222LeufsTer?) c.3431dup (p.Trp1145LeufsTer?) n.3677dup | |
11 | g.77189410G>A | CA475795946 | MYO7A | c.3570G>A (p.Arg1190=) c.1411G>A c.3537G>A (p.Arg1179=) c.1113G>A (p.Arg371=) n.97G>A n.1113G>A c.3480G>A (p.Arg1160=) c.3351G>A (p.Arg1117=) c.3339G>A (p.Arg1113=) c.3312G>A (p.Arg1104=) n.3890G>A n.3892G>A c.3660G>A (p.Arg1220=) c.3429G>A (p.Arg1143=) n.3675G>A | gnomAD v4 |
11 | g.77189410G>C | CA475795947 | MYO7A | c.3570G>C (p.Arg1190=) c.1411G>C c.3537G>C (p.Arg1179=) c.1113G>C (p.Arg371=) n.97G>C n.1113G>C c.3480G>C (p.Arg1160=) c.3351G>C (p.Arg1117=) c.3339G>C (p.Arg1113=) c.3312G>C (p.Arg1104=) n.3890G>C n.3892G>C c.3660G>C (p.Arg1220=) c.3429G>C (p.Arg1143=) n.3675G>C | |
11 | g.77189410G= | CA1984122481 | MYO7A | c.3570G= (p.Arg1190=) c.1411G= c.3537G= (p.Arg1179=) c.1113G= (p.Arg371=) n.97G= n.1113G= c.3480G= (p.Arg1160=) c.3351G= (p.Arg1117=) c.3339G= (p.Arg1113=) c.3312G= (p.Arg1104=) n.3890G= n.3892G= c.3660G= (p.Arg1220=) c.3429G= (p.Arg1143=) n.3675G= | |
11 | g.77189410G>T | CA475795948 | MYO7A | c.3570G>T (p.Arg1190=) c.1411G>T c.3537G>T (p.Arg1179=) c.1113G>T (p.Arg371=) n.97G>T n.1113G>T c.3480G>T (p.Arg1160=) c.3351G>T (p.Arg1117=) c.3339G>T (p.Arg1113=) c.3312G>T (p.Arg1104=) n.3890G>T n.3892G>T c.3660G>T (p.Arg1220=) c.3429G>T (p.Arg1143=) n.3675G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189411G>A | CA381946964 | MYO7A | c.3571G>A (p.Gly1191Ser) c.1412G>A c.3538G>A (p.Gly1180Ser) c.1114G>A (p.Gly372Ser) n.98G>A n.1114G>A c.3481G>A (p.Gly1161Ser) c.3352G>A (p.Gly1118Ser) c.3340G>A (p.Gly1114Ser) c.3313G>A (p.Gly1105Ser) n.3891G>A n.3893G>A c.3661G>A (p.Gly1221Ser) c.3430G>A (p.Gly1144Ser) n.3676G>A | dbSNP |
11 | g.77189411G>C | CA381946965 | MYO7A | c.3571G>C (p.Gly1191Arg) c.1412G>C c.3538G>C (p.Gly1180Arg) c.1114G>C (p.Gly372Arg) n.98G>C n.1114G>C c.3481G>C (p.Gly1161Arg) c.3352G>C (p.Gly1118Arg) c.3340G>C (p.Gly1114Arg) c.3313G>C (p.Gly1105Arg) n.3891G>C n.3893G>C c.3661G>C (p.Gly1221Arg) c.3430G>C (p.Gly1144Arg) n.3676G>C | |
11 | g.77189411G= | CA1984122483 | MYO7A | c.3571G= (p.Gly1191=) c.1412G= c.3538G= (p.Gly1180=) c.1114G= (p.Gly372=) n.98G= n.1114G= c.3481G= (p.Gly1161=) c.3352G= (p.Gly1118=) c.3340G= (p.Gly1114=) c.3313G= (p.Gly1105=) n.3891G= n.3893G= c.3661G= (p.Gly1221=) c.3430G= (p.Gly1144=) n.3676G= | |
11 | g.77189411G>T | CA381946966 | MYO7A | c.3571G>T (p.Gly1191Cys) c.1412G>T c.3538G>T (p.Gly1180Cys) c.1114G>T (p.Gly372Cys) n.98G>T n.1114G>T c.3481G>T (p.Gly1161Cys) c.3352G>T (p.Gly1118Cys) c.3340G>T (p.Gly1114Cys) c.3313G>T (p.Gly1105Cys) n.3891G>T n.3893G>T c.3661G>T (p.Gly1221Cys) c.3430G>T (p.Gly1144Cys) n.3676G>T | |
11 | g.77189412G>A | CA278654 | MYO7A | c.3572G>A (p.Gly1191Asp) c.1413G>A c.3539G>A (p.Gly1180Asp) c.1115G>A (p.Gly372Asp) n.99G>A n.1115G>A c.3482G>A (p.Gly1161Asp) c.3353G>A (p.Gly1118Asp) c.3341G>A (p.Gly1114Asp) c.3314G>A (p.Gly1105Asp) n.3892G>A n.3894G>A c.3662G>A (p.Gly1221Asp) c.3431G>A (p.Gly1144Asp) n.3677G>A | ClinVar dbSNP gnomAD v4 |
11 | g.77189412G>C | CA381946968 | MYO7A | c.3572G>C (p.Gly1191Ala) c.1413G>C c.3539G>C (p.Gly1180Ala) c.1115G>C (p.Gly372Ala) n.99G>C n.1115G>C c.3482G>C (p.Gly1161Ala) c.3353G>C (p.Gly1118Ala) c.3341G>C (p.Gly1114Ala) c.3314G>C (p.Gly1105Ala) n.3892G>C n.3894G>C c.3662G>C (p.Gly1221Ala) c.3431G>C (p.Gly1144Ala) n.3677G>C | |
11 | g.77189412G= | CA1984122486 | MYO7A | c.3572G= (p.Gly1191=) c.1413G= c.3539G= (p.Gly1180=) c.1115G= (p.Gly372=) n.99G= n.1115G= c.3482G= (p.Gly1161=) c.3353G= (p.Gly1118=) c.3341G= (p.Gly1114=) c.3314G= (p.Gly1105=) n.3892G= n.3894G= c.3662G= (p.Gly1221=) c.3431G= (p.Gly1144=) n.3677G= | |
11 | g.77189412G>T | CA381946967 | MYO7A | c.3572G>T (p.Gly1191Val) c.1413G>T c.3539G>T (p.Gly1180Val) c.1115G>T (p.Gly372Val) n.99G>T n.1115G>T c.3482G>T (p.Gly1161Val) c.3353G>T (p.Gly1118Val) c.3341G>T (p.Gly1114Val) c.3314G>T (p.Gly1105Val) n.3892G>T n.3894G>T c.3662G>T (p.Gly1221Val) c.3431G>T (p.Gly1144Val) n.3677G>T | gnomAD v4 COSMIC |
11 | g.77189413C>A | CA475795949 | MYO7A | c.3573C>A (p.Gly1191=) c.1414C>A c.3540C>A (p.Gly1180=) c.1116C>A (p.Gly372=) n.100C>A n.1116C>A c.3483C>A (p.Gly1161=) c.3354C>A (p.Gly1118=) c.3342C>A (p.Gly1114=) c.3315C>A (p.Gly1105=) n.3893C>A n.3895C>A c.3663C>A (p.Gly1221=) c.3432C>A (p.Gly1144=) n.3678C>A | ClinVar |
11 | g.77189413C>G | CA475795950 | MYO7A | c.3573C>G (p.Gly1191=) c.1414C>G c.3540C>G (p.Gly1180=) c.1116C>G (p.Gly372=) n.100C>G n.1116C>G c.3483C>G (p.Gly1161=) c.3354C>G (p.Gly1118=) c.3342C>G (p.Gly1114=) c.3315C>G (p.Gly1105=) n.3893C>G n.3895C>G c.3663C>G (p.Gly1221=) c.3432C>G (p.Gly1144=) n.3678C>G | |
11 | g.77189413C>T | CA475795951 | MYO7A | c.3573C>T (p.Gly1191=) c.1414C>T c.3540C>T (p.Gly1180=) c.1116C>T (p.Gly372=) n.100C>T n.1116C>T c.3483C>T (p.Gly1161=) c.3354C>T (p.Gly1118=) c.3342C>T (p.Gly1114=) c.3315C>T (p.Gly1105=) n.3893C>T n.3895C>T c.3663C>T (p.Gly1221=) c.3432C>T (p.Gly1144=) n.3678C>T | |
11 | g.77189414T>A | CA381946969 | MYO7A | c.3574T>A (p.Trp1192Arg) c.1415T>A c.3541T>A (p.Trp1181Arg) c.1117T>A (p.Trp373Arg) n.101T>A n.1117T>A c.3484T>A (p.Trp1162Arg) c.3355T>A (p.Trp1119Arg) c.3343T>A (p.Trp1115Arg) c.3316T>A (p.Trp1106Arg) n.3894T>A n.3896T>A c.3664T>A (p.Trp1222Arg) c.3433T>A (p.Trp1145Arg) n.3679T>A | |
11 | g.77189414T>C | CA381946970 | MYO7A | c.3574T>C (p.Trp1192Arg) c.1415T>C c.3541T>C (p.Trp1181Arg) c.1117T>C (p.Trp373Arg) n.101T>C n.1117T>C c.3484T>C (p.Trp1162Arg) c.3355T>C (p.Trp1119Arg) c.3343T>C (p.Trp1115Arg) c.3316T>C (p.Trp1106Arg) n.3894T>C n.3896T>C c.3664T>C (p.Trp1222Arg) c.3433T>C (p.Trp1145Arg) n.3679T>C | |
11 | g.77189414T>G | CA381946971 | MYO7A | c.3574T>G (p.Trp1192Gly) c.1415T>G c.3541T>G (p.Trp1181Gly) c.1117T>G (p.Trp373Gly) n.101T>G n.1117T>G c.3484T>G (p.Trp1162Gly) c.3355T>G (p.Trp1119Gly) c.3343T>G (p.Trp1115Gly) c.3316T>G (p.Trp1106Gly) n.3894T>G n.3896T>G c.3664T>G (p.Trp1222Gly) c.3433T>G (p.Trp1145Gly) n.3679T>G | |
11 | g.77189415G>A | CA381946972 | MYO7A | c.3575G>A (p.Trp1192Ter) c.1416G>A c.3542G>A (p.Trp1181Ter) c.1118G>A (p.Trp373Ter) n.102G>A n.1118G>A c.3485G>A (p.Trp1162Ter) c.3356G>A (p.Trp1119Ter) c.3344G>A (p.Trp1115Ter) c.3317G>A (p.Trp1106Ter) n.3895G>A n.3897G>A c.3665G>A (p.Trp1222Ter) c.3434G>A (p.Trp1145Ter) n.3680G>A | gnomAD v4 |
11 | g.77189415G>C | CA381946973 | MYO7A | c.3575G>C (p.Trp1192Ser) c.1416G>C c.3542G>C (p.Trp1181Ser) c.1118G>C (p.Trp373Ser) n.102G>C n.1118G>C c.3485G>C (p.Trp1162Ser) c.3356G>C (p.Trp1119Ser) c.3344G>C (p.Trp1115Ser) c.3317G>C (p.Trp1106Ser) n.3895G>C n.3897G>C c.3665G>C (p.Trp1222Ser) c.3434G>C (p.Trp1145Ser) n.3680G>C | |
11 | g.77189415G>T | CA381946974 | MYO7A | c.3575G>T (p.Trp1192Leu) c.1416G>T c.3542G>T (p.Trp1181Leu) c.1118G>T (p.Trp373Leu) n.102G>T n.1118G>T c.3485G>T (p.Trp1162Leu) c.3356G>T (p.Trp1119Leu) c.3344G>T (p.Trp1115Leu) c.3317G>T (p.Trp1106Leu) n.3895G>T n.3897G>T c.3665G>T (p.Trp1222Leu) c.3434G>T (p.Trp1145Leu) n.3680G>T | |
11 | g.77189416G>A | CA381946975 | MYO7A | c.3576G>A (p.Trp1192Ter) c.1417G>A c.3543G>A (p.Trp1181Ter) c.1119G>A (p.Trp373Ter) n.103G>A n.1119G>A c.3486G>A (p.Trp1162Ter) c.3357G>A (p.Trp1119Ter) c.3345G>A (p.Trp1115Ter) c.3318G>A (p.Trp1106Ter) n.3896G>A n.3898G>A c.3666G>A (p.Trp1222Ter) c.3435G>A (p.Trp1145Ter) n.3681G>A | ClinVar dbSNP |
11 | g.77189416G>C | CA381946976 | MYO7A | c.3576G>C (p.Trp1192Cys) c.1417G>C c.3543G>C (p.Trp1181Cys) c.1119G>C (p.Trp373Cys) n.103G>C n.1119G>C c.3486G>C (p.Trp1162Cys) c.3357G>C (p.Trp1119Cys) c.3345G>C (p.Trp1115Cys) c.3318G>C (p.Trp1106Cys) n.3896G>C n.3898G>C c.3666G>C (p.Trp1222Cys) c.3435G>C (p.Trp1145Cys) n.3681G>C | |
11 | g.77189416G= | CA1984122489 | MYO7A | c.3576G= (p.Trp1192=) c.1417G= c.3543G= (p.Trp1181=) c.1119G= (p.Trp373=) n.103G= n.1119G= c.3486G= (p.Trp1162=) c.3357G= (p.Trp1119=) c.3345G= (p.Trp1115=) c.3318G= (p.Trp1106=) n.3896G= n.3898G= c.3666G= (p.Trp1222=) c.3435G= (p.Trp1145=) n.3681G= | |
11 | g.77189416G>T | CA381946977 | MYO7A | c.3576G>T (p.Trp1192Cys) c.1417G>T c.3543G>T (p.Trp1181Cys) c.1119G>T (p.Trp373Cys) n.103G>T n.1119G>T c.3486G>T (p.Trp1162Cys) c.3357G>T (p.Trp1119Cys) c.3345G>T (p.Trp1115Cys) c.3318G>T (p.Trp1106Cys) n.3896G>T n.3898G>T c.3666G>T (p.Trp1222Cys) c.3435G>T (p.Trp1145Cys) n.3681G>T | |
11 | g.77189417A>C | CA381946979 | MYO7A | c.3577A>C (p.Ile1193Leu) c.1418A>C c.3544A>C (p.Ile1182Leu) c.1120A>C (p.Ile374Leu) n.104A>C n.1120A>C c.3487A>C (p.Ile1163Leu) c.3358A>C (p.Ile1120Leu) c.3346A>C (p.Ile1116Leu) c.3319A>C (p.Ile1107Leu) n.3897A>C n.3899A>C c.3667A>C (p.Ile1223Leu) c.3436A>C (p.Ile1146Leu) n.3682A>C | |
11 | g.77189417A>G | CA381946980 | MYO7A | c.3577A>G (p.Ile1193Val) c.1418A>G c.3544A>G (p.Ile1182Val) c.1120A>G (p.Ile374Val) n.104A>G n.1120A>G c.3487A>G (p.Ile1163Val) c.3358A>G (p.Ile1120Val) c.3346A>G (p.Ile1116Val) c.3319A>G (p.Ile1107Val) n.3897A>G n.3899A>G c.3667A>G (p.Ile1223Val) c.3436A>G (p.Ile1146Val) n.3682A>G | |
11 | g.77189417A>T | CA381946978 | MYO7A | c.3577A>T (p.Ile1193Phe) c.1418A>T c.3544A>T (p.Ile1182Phe) c.1120A>T (p.Ile374Phe) n.104A>T n.1120A>T c.3487A>T (p.Ile1163Phe) c.3358A>T (p.Ile1120Phe) c.3346A>T (p.Ile1116Phe) c.3319A>T (p.Ile1107Phe) n.3897A>T n.3899A>T c.3667A>T (p.Ile1223Phe) c.3436A>T (p.Ile1146Phe) n.3682A>T | |
11 | g.77189418T>A | CA381946981 | MYO7A | c.3578T>A (p.Ile1193Asn) c.1419T>A c.3545T>A (p.Ile1182Asn) c.1121T>A (p.Ile374Asn) n.105T>A n.1121T>A c.3488T>A (p.Ile1163Asn) c.3359T>A (p.Ile1120Asn) c.3347T>A (p.Ile1116Asn) c.3320T>A (p.Ile1107Asn) n.3898T>A n.3900T>A c.3668T>A (p.Ile1223Asn) c.3437T>A (p.Ile1146Asn) n.3683T>A | |
11 | g.77189418T>C | CA381946982 | MYO7A | c.3578T>C (p.Ile1193Thr) c.1419T>C c.3545T>C (p.Ile1182Thr) c.1121T>C (p.Ile374Thr) n.105T>C n.1121T>C c.3488T>C (p.Ile1163Thr) c.3359T>C (p.Ile1120Thr) c.3347T>C (p.Ile1116Thr) c.3320T>C (p.Ile1107Thr) n.3898T>C n.3900T>C c.3668T>C (p.Ile1223Thr) c.3437T>C (p.Ile1146Thr) n.3683T>C | |
11 | g.77189418T>G | CA381946983 | MYO7A | c.3578T>G (p.Ile1193Ser) c.1419T>G c.3545T>G (p.Ile1182Ser) c.1121T>G (p.Ile374Ser) n.105T>G n.1121T>G c.3488T>G (p.Ile1163Ser) c.3359T>G (p.Ile1120Ser) c.3347T>G (p.Ile1116Ser) c.3320T>G (p.Ile1107Ser) n.3898T>G n.3900T>G c.3668T>G (p.Ile1223Ser) c.3437T>G (p.Ile1146Ser) n.3683T>G | |
11 | g.77189419T>A | CA475795953 | MYO7A | c.3579T>A (p.Ile1193=) c.1420T>A c.3546T>A (p.Ile1182=) c.1122T>A (p.Ile374=) n.106T>A n.1122T>A c.3489T>A (p.Ile1163=) c.3360T>A (p.Ile1120=) c.3348T>A (p.Ile1116=) c.3321T>A (p.Ile1107=) n.3899T>A n.3901T>A c.3669T>A (p.Ile1223=) c.3438T>A (p.Ile1146=) n.3684T>A | |
11 | g.77189419T>C | CA475795952 | MYO7A | c.3579T>C (p.Ile1193=) c.1420T>C c.3546T>C (p.Ile1182=) c.1122T>C (p.Ile374=) n.106T>C n.1122T>C c.3489T>C (p.Ile1163=) c.3360T>C (p.Ile1120=) c.3348T>C (p.Ile1116=) c.3321T>C (p.Ile1107=) n.3899T>C n.3901T>C c.3669T>C (p.Ile1223=) c.3438T>C (p.Ile1146=) n.3684T>C | |
11 | g.77189419T>G | CA381946984 | MYO7A | c.3579T>G (p.Ile1193Met) c.1420T>G c.3546T>G (p.Ile1182Met) c.1122T>G (p.Ile374Met) n.106T>G n.1122T>G c.3489T>G (p.Ile1163Met) c.3360T>G (p.Ile1120Met) c.3348T>G (p.Ile1116Met) c.3321T>G (p.Ile1107Met) n.3899T>G n.3901T>G c.3669T>G (p.Ile1223Met) c.3438T>G (p.Ile1146Met) n.3684T>G | |
11 | g.77189419T= | CA1984122491 | MYO7A | c.3579T= (p.Ile1193=) c.1420T= c.3546T= (p.Ile1182=) c.1122T= (p.Ile374=) n.106T= n.1122T= c.3489T= (p.Ile1163=) c.3360T= (p.Ile1120=) c.3348T= (p.Ile1116=) c.3321T= (p.Ile1107=) n.3899T= n.3901T= c.3669T= (p.Ile1223=) c.3438T= (p.Ile1146=) n.3684T= | |
11 | g.77189419_77189420insA | CA224843679 | MYO7A | c.3579_3580insA (p.Leu1194ThrfsTer?) c.1420_1421insA c.3546_3547insA (p.Leu1183ThrfsTer?) c.1122_1123insA (p.Leu375ThrfsTer?) n.106_107insA n.1122_1123insA c.3489_3490insA (p.Leu1164ThrfsTer?) c.3360_3361insA (p.Leu1121ThrfsTer?) c.3348_3349insA (p.Leu1117ThrfsTer?) c.3321_3322insA (p.Leu1108ThrfsTer?) n.3899_3900insA n.3901_3902insA c.3669_3670insA (p.Leu1224ThrfsTer?) c.3438_3439insA (p.Leu1147ThrfsTer?) n.3684_3685insA | dbSNP |
11 | g.77189420C>A | CA381946985 | MYO7A | c.3580C>A (p.Leu1194Ile) c.1421C>A c.3547C>A (p.Leu1183Ile) c.1123C>A (p.Leu375Ile) n.107C>A n.1123C>A c.3490C>A (p.Leu1164Ile) c.3361C>A (p.Leu1121Ile) c.3349C>A (p.Leu1117Ile) c.3322C>A (p.Leu1108Ile) n.3900C>A n.3902C>A c.3670C>A (p.Leu1224Ile) c.3439C>A (p.Leu1147Ile) n.3685C>A | |
11 | g.77189420C>G | CA381946986 | MYO7A | c.3580C>G (p.Leu1194Val) c.1421C>G c.3547C>G (p.Leu1183Val) c.1123C>G (p.Leu375Val) n.107C>G n.1123C>G c.3490C>G (p.Leu1164Val) c.3361C>G (p.Leu1121Val) c.3349C>G (p.Leu1117Val) c.3322C>G (p.Leu1108Val) n.3900C>G n.3902C>G c.3670C>G (p.Leu1224Val) c.3439C>G (p.Leu1147Val) n.3685C>G | |
11 | g.77189420C>T | CA381946987 | MYO7A | c.3580C>T (p.Leu1194Phe) c.1421C>T c.3547C>T (p.Leu1183Phe) c.1123C>T (p.Leu375Phe) n.107C>T n.1123C>T c.3490C>T (p.Leu1164Phe) c.3361C>T (p.Leu1121Phe) c.3349C>T (p.Leu1117Phe) c.3322C>T (p.Leu1108Phe) n.3900C>T n.3902C>T c.3670C>T (p.Leu1224Phe) c.3439C>T (p.Leu1147Phe) n.3685C>T | |
11 | g.77189421T>A | CA381946988 | MYO7A | c.3581T>A (p.Leu1194His) c.1422T>A c.3548T>A (p.Leu1183His) c.1124T>A (p.Leu375His) n.108T>A n.1124T>A c.3491T>A (p.Leu1164His) c.3362T>A (p.Leu1121His) c.3350T>A (p.Leu1117His) c.3323T>A (p.Leu1108His) n.3901T>A n.3903T>A c.3671T>A (p.Leu1224His) c.3440T>A (p.Leu1147His) n.3686T>A | |
11 | g.77189421T>C | CA381946989 | MYO7A | c.3581T>C (p.Leu1194Pro) c.1422T>C c.3548T>C (p.Leu1183Pro) c.1124T>C (p.Leu375Pro) n.108T>C n.1124T>C c.3491T>C (p.Leu1164Pro) c.3362T>C (p.Leu1121Pro) c.3350T>C (p.Leu1117Pro) c.3323T>C (p.Leu1108Pro) n.3901T>C n.3903T>C c.3671T>C (p.Leu1224Pro) c.3440T>C (p.Leu1147Pro) n.3686T>C | |
11 | g.77189421T>G | CA381946990 | MYO7A | c.3581T>G (p.Leu1194Arg) c.1422T>G c.3548T>G (p.Leu1183Arg) c.1124T>G (p.Leu375Arg) n.108T>G n.1124T>G c.3491T>G (p.Leu1164Arg) c.3362T>G (p.Leu1121Arg) c.3350T>G (p.Leu1117Arg) c.3323T>G (p.Leu1108Arg) n.3901T>G n.3903T>G c.3671T>G (p.Leu1224Arg) c.3440T>G (p.Leu1147Arg) n.3686T>G | |
11 | g.77189422C>A | CA475795954 | MYO7A | c.3582C>A (p.Leu1194=) c.1423C>A c.3549C>A (p.Leu1183=) c.1125C>A (p.Leu375=) n.109C>A n.1125C>A c.3492C>A (p.Leu1164=) c.3363C>A (p.Leu1121=) c.3351C>A (p.Leu1117=) c.3324C>A (p.Leu1108=) n.3902C>A n.3904C>A c.3672C>A (p.Leu1224=) c.3441C>A (p.Leu1147=) n.3687C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77189422C= | CA1984122495 | MYO7A | c.3582C= (p.Leu1194=) c.1423C= c.3549C= (p.Leu1183=) c.1125C= (p.Leu375=) n.109C= n.1125C= c.3492C= (p.Leu1164=) c.3363C= (p.Leu1121=) c.3351C= (p.Leu1117=) c.3324C= (p.Leu1108=) n.3902C= n.3904C= c.3672C= (p.Leu1224=) c.3441C= (p.Leu1147=) n.3687C= | |
11 | g.77189422C>G | CA475795955 | MYO7A | c.3582C>G (p.Leu1194=) c.1423C>G c.3549C>G (p.Leu1183=) c.1125C>G (p.Leu375=) n.109C>G n.1125C>G c.3492C>G (p.Leu1164=) c.3363C>G (p.Leu1121=) c.3351C>G (p.Leu1117=) c.3324C>G (p.Leu1108=) n.3902C>G n.3904C>G c.3672C>G (p.Leu1224=) c.3441C>G (p.Leu1147=) n.3687C>G | |
11 | g.77189422C>T | CA10604785 | MYO7A | c.3582C>T (p.Leu1194=) c.1423C>T c.3549C>T (p.Leu1183=) c.1125C>T (p.Leu375=) n.109C>T n.1125C>T c.3492C>T (p.Leu1164=) c.3363C>T (p.Leu1121=) c.3351C>T (p.Leu1117=) c.3324C>T (p.Leu1108=) n.3902C>T n.3904C>T c.3672C>T (p.Leu1224=) c.3441C>T (p.Leu1147=) n.3687C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189423G>A | CA6198119 | MYO7A | c.3583G>A (p.Val1195Met) c.1424G>A c.3550G>A (p.Val1184Met) c.1126G>A (p.Val376Met) n.110G>A n.1126G>A c.3493G>A (p.Val1165Met) c.3364G>A (p.Val1122Met) c.3352G>A (p.Val1118Met) c.3325G>A (p.Val1109Met) n.3903G>A n.3905G>A c.3673G>A (p.Val1225Met) c.3442G>A (p.Val1148Met) n.3688G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189423G>C | CA381946992 | MYO7A | c.3583G>C (p.Val1195Leu) c.1424G>C c.3550G>C (p.Val1184Leu) c.1126G>C (p.Val376Leu) n.110G>C n.1126G>C c.3493G>C (p.Val1165Leu) c.3364G>C (p.Val1122Leu) c.3352G>C (p.Val1118Leu) c.3325G>C (p.Val1109Leu) n.3903G>C n.3905G>C c.3673G>C (p.Val1225Leu) c.3442G>C (p.Val1148Leu) n.3688G>C | gnomAD v4 |
11 | g.77189423G= | CA1984122497 | MYO7A | c.3583G= (p.Val1195=) c.1424G= c.3550G= (p.Val1184=) c.1126G= (p.Val376=) n.110G= n.1126G= c.3493G= (p.Val1165=) c.3364G= (p.Val1122=) c.3352G= (p.Val1118=) c.3325G= (p.Val1109=) n.3903G= n.3905G= c.3673G= (p.Val1225=) c.3442G= (p.Val1148=) n.3688G= | |
11 | g.77189423G>T | CA381946991 | MYO7A | c.3583G>T (p.Val1195Leu) c.1424G>T c.3550G>T (p.Val1184Leu) c.1126G>T (p.Val376Leu) n.110G>T n.1126G>T c.3493G>T (p.Val1165Leu) c.3364G>T (p.Val1122Leu) c.3352G>T (p.Val1118Leu) c.3325G>T (p.Val1109Leu) n.3903G>T n.3905G>T c.3673G>T (p.Val1225Leu) c.3442G>T (p.Val1148Leu) n.3688G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189424T>A | CA381946993 | MYO7A | c.3584T>A (p.Val1195Glu) c.1425T>A c.3551T>A (p.Val1184Glu) c.1127T>A (p.Val376Glu) n.111T>A n.1127T>A c.3494T>A (p.Val1165Glu) c.3365T>A (p.Val1122Glu) c.3353T>A (p.Val1118Glu) c.3326T>A (p.Val1109Glu) n.3904T>A n.3906T>A c.3674T>A (p.Val1225Glu) c.3443T>A (p.Val1148Glu) n.3689T>A | |
11 | g.77189424T>C | CA381946994 | MYO7A | c.3584T>C (p.Val1195Ala) c.1425T>C c.3551T>C (p.Val1184Ala) c.1127T>C (p.Val376Ala) n.111T>C n.1127T>C c.3494T>C (p.Val1165Ala) c.3365T>C (p.Val1122Ala) c.3353T>C (p.Val1118Ala) c.3326T>C (p.Val1109Ala) n.3904T>C n.3906T>C c.3674T>C (p.Val1225Ala) c.3443T>C (p.Val1148Ala) n.3689T>C | |
11 | g.77189424T>G | CA381946995 | MYO7A | c.3584T>G (p.Val1195Gly) c.1425T>G c.3551T>G (p.Val1184Gly) c.1127T>G (p.Val376Gly) n.111T>G n.1127T>G c.3494T>G (p.Val1165Gly) c.3365T>G (p.Val1122Gly) c.3353T>G (p.Val1118Gly) c.3326T>G (p.Val1109Gly) n.3904T>G n.3906T>G c.3674T>G (p.Val1225Gly) c.3443T>G (p.Val1148Gly) n.3689T>G | |
11 | g.77189425G>A | CA475795956 | MYO7A | c.3585G>A (p.Val1195=) c.1426G>A c.3552G>A (p.Val1184=) c.1128G>A (p.Val376=) n.112G>A n.1128G>A c.3495G>A (p.Val1165=) c.3366G>A (p.Val1122=) c.3354G>A (p.Val1118=) c.3327G>A (p.Val1109=) n.3905G>A n.3907G>A c.3675G>A (p.Val1225=) c.3444G>A (p.Val1148=) n.3690G>A | |
11 | g.77189425G>C | CA475795957 | MYO7A | c.3585G>C (p.Val1195=) c.1426G>C c.3552G>C (p.Val1184=) c.1128G>C (p.Val376=) n.112G>C n.1128G>C c.3495G>C (p.Val1165=) c.3366G>C (p.Val1122=) c.3354G>C (p.Val1118=) c.3327G>C (p.Val1109=) n.3905G>C n.3907G>C c.3675G>C (p.Val1225=) c.3444G>C (p.Val1148=) n.3690G>C | |
11 | g.77189425G>T | CA475795958 | MYO7A | c.3585G>T (p.Val1195=) c.1426G>T c.3552G>T (p.Val1184=) c.1128G>T (p.Val376=) n.112G>T n.1128G>T c.3495G>T (p.Val1165=) c.3366G>T (p.Val1122=) c.3354G>T (p.Val1118=) c.3327G>T (p.Val1109=) n.3905G>T n.3907G>T c.3675G>T (p.Val1225=) c.3444G>T (p.Val1148=) n.3690G>T | |
11 | g.77189425_77189427delinsGTC | CA1984122500 | MYO7A | c.3585_3587delinsGTC (p.Val1195=) c.1426_1428delinsGTC c.3552_3554delinsGTC (p.Val1184=) c.1128_1130delinsGTC (p.Val376=) n.112_114delinsGTC n.1128_1130delinsGTC c.3495_3497delinsGTC (p.Val1165=) c.3366_3368delinsGTC (p.Val1122=) c.3354_3356delinsGTC (p.Val1118=) c.3327_3329delinsGTC (p.Val1109=) n.3905_3907delinsGTC n.3907_3909delinsGTC c.3675_3677delinsGTC (p.Val1225=) c.3444_3446delinsGTC (p.Val1148=) n.3690_3692delinsGTC | |
11 | g.77189426T>A | CA381946998 | MYO7A | c.3586T>A (p.Ser1196Thr) c.1427T>A c.3553T>A (p.Ser1185Thr) c.1129T>A (p.Ser377Thr) n.113T>A n.1129T>A c.3496T>A (p.Ser1166Thr) c.3367T>A (p.Ser1123Thr) c.3355T>A (p.Ser1119Thr) c.3328T>A (p.Ser1110Thr) n.3906T>A n.3908T>A c.3676T>A (p.Ser1226Thr) c.3445T>A (p.Ser1149Thr) n.3691T>A | |
11 | g.77189426T>C | CA381946997 | MYO7A | c.3586T>C (p.Ser1196Pro) c.1427T>C c.3553T>C (p.Ser1185Pro) c.1129T>C (p.Ser377Pro) n.113T>C n.1129T>C c.3496T>C (p.Ser1166Pro) c.3367T>C (p.Ser1123Pro) c.3355T>C (p.Ser1119Pro) c.3328T>C (p.Ser1110Pro) n.3906T>C n.3908T>C c.3676T>C (p.Ser1226Pro) c.3445T>C (p.Ser1149Pro) n.3691T>C | |
11 | g.77189426T>G | CA381946996 | MYO7A | c.3586T>G (p.Ser1196Ala) c.1427T>G c.3553T>G (p.Ser1185Ala) c.1129T>G (p.Ser377Ala) n.113T>G n.1129T>G c.3496T>G (p.Ser1166Ala) c.3367T>G (p.Ser1123Ala) c.3355T>G (p.Ser1119Ala) c.3328T>G (p.Ser1110Ala) n.3906T>G n.3908T>G c.3676T>G (p.Ser1226Ala) c.3445T>G (p.Ser1149Ala) n.3691T>G | |
11 | g.77189426_77189427delinsAT | CA645585230 | MYO7A | c.3586_3587delinsAT (p.Ser1196Ile) c.1427_1428delinsAT c.3553_3554delinsAT (p.Ser1185Ile) c.1129_1130delinsAT (p.Ser377Ile) n.113_114delinsAT n.1129_1130delinsAT c.3496_3497delinsAT (p.Ser1166Ile) c.3367_3368delinsAT (p.Ser1123Ile) c.3355_3356delinsAT (p.Ser1119Ile) c.3328_3329delinsAT (p.Ser1110Ile) n.3906_3907delinsAT n.3908_3909delinsAT c.3676_3677delinsAT (p.Ser1226Ile) c.3445_3446delinsAT (p.Ser1149Ile) n.3691_3692delinsAT | COSMIC |
11 | g.77189431_77189432del | CA236388 | MYO7A | c.3591_3592del (p.Cys1198ArgfsTer?) c.1432_1433del c.3558_3559del (p.Cys1187ArgfsTer?) c.1134_1135del (p.Cys379ArgfsTer?) n.118_119del n.1134_1135del c.3501_3502del (p.Cys1168ArgfsTer?) c.3372_3373del (p.Cys1125ArgfsTer?) c.3360_3361del (p.Cys1121ArgfsTer?) c.3333_3334del (p.Cys1112ArgfsTer?) n.3911_3912del n.3913_3914del c.3681_3682del (p.Cys1228ArgfsTer?) c.3450_3451del (p.Cys1151ArgfsTer?) n.3696_3697del | ClinVar dbSNP gnomAD v2 |
11 | g.77189427C>A | CA381946999 | MYO7A | c.3587C>A (p.Ser1196Tyr) c.1428C>A c.3554C>A (p.Ser1185Tyr) c.1130C>A (p.Ser377Tyr) n.114C>A n.1130C>A c.3497C>A (p.Ser1166Tyr) c.3368C>A (p.Ser1123Tyr) c.3356C>A (p.Ser1119Tyr) c.3329C>A (p.Ser1110Tyr) n.3907C>A n.3909C>A c.3677C>A (p.Ser1226Tyr) c.3446C>A (p.Ser1149Tyr) n.3692C>A | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.77189427C= | CA1984122506 | MYO7A | c.3587C= (p.Ser1196=) c.1428C= c.3554C= (p.Ser1185=) c.1130C= (p.Ser377=) n.114C= n.1130C= c.3497C= (p.Ser1166=) c.3368C= (p.Ser1123=) c.3356C= (p.Ser1119=) c.3329C= (p.Ser1110=) n.3907C= n.3909C= c.3677C= (p.Ser1226=) c.3446C= (p.Ser1149=) n.3692C= | |
11 | g.77189427C>G | CA381947000 | MYO7A | c.3587C>G (p.Ser1196Cys) c.1428C>G c.3554C>G (p.Ser1185Cys) c.1130C>G (p.Ser377Cys) n.114C>G n.1130C>G c.3497C>G (p.Ser1166Cys) c.3368C>G (p.Ser1123Cys) c.3356C>G (p.Ser1119Cys) c.3329C>G (p.Ser1110Cys) n.3907C>G n.3909C>G c.3677C>G (p.Ser1226Cys) c.3446C>G (p.Ser1149Cys) n.3692C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189427C>T | CA381947001 | MYO7A | c.3587C>T (p.Ser1196Phe) c.1428C>T c.3554C>T (p.Ser1185Phe) c.1130C>T (p.Ser377Phe) n.114C>T n.1130C>T c.3497C>T (p.Ser1166Phe) c.3368C>T (p.Ser1123Phe) c.3356C>T (p.Ser1119Phe) c.3329C>T (p.Ser1110Phe) n.3907C>T n.3909C>T c.3677C>T (p.Ser1226Phe) c.3446C>T (p.Ser1149Phe) n.3692C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77189428T>A | CA475795961 | MYO7A | c.3588T>A (p.Ser1196=) c.1429T>A c.3555T>A (p.Ser1185=) c.1131T>A (p.Ser377=) n.115T>A n.1131T>A c.3498T>A (p.Ser1166=) c.3369T>A (p.Ser1123=) c.3357T>A (p.Ser1119=) c.3330T>A (p.Ser1110=) n.3908T>A n.3910T>A c.3678T>A (p.Ser1226=) c.3447T>A (p.Ser1149=) n.3693T>A | |
11 | g.77189428T>C | CA475795960 | MYO7A | c.3588T>C (p.Ser1196=) c.1429T>C c.3555T>C (p.Ser1185=) c.1131T>C (p.Ser377=) n.115T>C n.1131T>C c.3498T>C (p.Ser1166=) c.3369T>C (p.Ser1123=) c.3357T>C (p.Ser1119=) c.3330T>C (p.Ser1110=) n.3908T>C n.3910T>C c.3678T>C (p.Ser1226=) c.3447T>C (p.Ser1149=) n.3693T>C | ClinVar |
11 | g.77189428T>G | CA475795959 | MYO7A | c.3588T>G (p.Ser1196=) c.1429T>G c.3555T>G (p.Ser1185=) c.1131T>G (p.Ser377=) n.115T>G n.1131T>G c.3498T>G (p.Ser1166=) c.3369T>G (p.Ser1123=) c.3357T>G (p.Ser1119=) c.3330T>G (p.Ser1110=) n.3908T>G n.3910T>G c.3678T>G (p.Ser1226=) c.3447T>G (p.Ser1149=) n.3693T>G | |
11 | g.77189429C>A | CA381947002 | MYO7A | c.3589C>A (p.Leu1197Ile) c.1430C>A c.3556C>A (p.Leu1186Ile) c.1132C>A (p.Leu378Ile) n.116C>A n.1132C>A c.3499C>A (p.Leu1167Ile) c.3370C>A (p.Leu1124Ile) c.3358C>A (p.Leu1120Ile) c.3331C>A (p.Leu1111Ile) n.3909C>A n.3911C>A c.3679C>A (p.Leu1227Ile) c.3448C>A (p.Leu1150Ile) n.3694C>A | |
11 | g.77189429C= | CA1984122508 | MYO7A | c.3589C= (p.Leu1197=) c.1430C= c.3556C= (p.Leu1186=) c.1132C= (p.Leu378=) n.116C= n.1132C= c.3499C= (p.Leu1167=) c.3370C= (p.Leu1124=) c.3358C= (p.Leu1120=) c.3331C= (p.Leu1111=) n.3909C= n.3911C= c.3679C= (p.Leu1227=) c.3448C= (p.Leu1150=) n.3694C= | |
11 | g.77189429C>G | CA381947003 | MYO7A | c.3589C>G (p.Leu1197Val) c.1430C>G c.3556C>G (p.Leu1186Val) c.1132C>G (p.Leu378Val) n.116C>G n.1132C>G c.3499C>G (p.Leu1167Val) c.3370C>G (p.Leu1124Val) c.3358C>G (p.Leu1120Val) c.3331C>G (p.Leu1111Val) n.3909C>G n.3911C>G c.3679C>G (p.Leu1227Val) c.3448C>G (p.Leu1150Val) n.3694C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189429C>T | CA381947004 | MYO7A | c.3589C>T (p.Leu1197Phe) c.1430C>T c.3556C>T (p.Leu1186Phe) c.1132C>T (p.Leu378Phe) n.116C>T n.1132C>T c.3499C>T (p.Leu1167Phe) c.3370C>T (p.Leu1124Phe) c.3358C>T (p.Leu1120Phe) c.3331C>T (p.Leu1111Phe) n.3909C>T n.3911C>T c.3679C>T (p.Leu1227Phe) c.3448C>T (p.Leu1150Phe) n.3694C>T | |
11 | g.77189430T>A | CA381947006 | MYO7A | c.3590T>A (p.Leu1197His) c.1431T>A c.3557T>A (p.Leu1186His) c.1133T>A (p.Leu378His) n.117T>A n.1133T>A c.3500T>A (p.Leu1167His) c.3371T>A (p.Leu1124His) c.3359T>A (p.Leu1120His) c.3332T>A (p.Leu1111His) n.3910T>A n.3912T>A c.3680T>A (p.Leu1227His) c.3449T>A (p.Leu1150His) n.3695T>A | |
11 | g.77189430T>C | CA381947007 | MYO7A | c.3590T>C (p.Leu1197Pro) c.1431T>C c.3557T>C (p.Leu1186Pro) c.1133T>C (p.Leu378Pro) n.117T>C n.1133T>C c.3500T>C (p.Leu1167Pro) c.3371T>C (p.Leu1124Pro) c.3359T>C (p.Leu1120Pro) c.3332T>C (p.Leu1111Pro) n.3910T>C n.3912T>C c.3680T>C (p.Leu1227Pro) c.3449T>C (p.Leu1150Pro) n.3695T>C | ClinVar dbSNP |
11 | g.77189430T>G | CA381947005 | MYO7A | c.3590T>G (p.Leu1197Arg) c.1431T>G c.3557T>G (p.Leu1186Arg) c.1133T>G (p.Leu378Arg) n.117T>G n.1133T>G c.3500T>G (p.Leu1167Arg) c.3371T>G (p.Leu1124Arg) c.3359T>G (p.Leu1120Arg) c.3332T>G (p.Leu1111Arg) n.3910T>G n.3912T>G c.3680T>G (p.Leu1227Arg) c.3449T>G (p.Leu1150Arg) n.3695T>G | |
11 | g.77189430T= | CA1984122510 | MYO7A | c.3590T= (p.Leu1197=) c.1431T= c.3557T= (p.Leu1186=) c.1133T= (p.Leu378=) n.117T= n.1133T= c.3500T= (p.Leu1167=) c.3371T= (p.Leu1124=) c.3359T= (p.Leu1120=) c.3332T= (p.Leu1111=) n.3910T= n.3912T= c.3680T= (p.Leu1227=) c.3449T= (p.Leu1150=) n.3695T= | |
11 | g.77189431C>A | CA475795962 | MYO7A | c.3591C>A (p.Leu1197=) c.1432C>A c.3558C>A (p.Leu1186=) c.1134C>A (p.Leu378=) n.118C>A n.1134C>A c.3501C>A (p.Leu1167=) c.3372C>A (p.Leu1124=) c.3360C>A (p.Leu1120=) c.3333C>A (p.Leu1111=) n.3911C>A n.3913C>A c.3681C>A (p.Leu1227=) c.3450C>A (p.Leu1150=) n.3696C>A | |
11 | g.77189431C>G | CA475795964 | MYO7A | c.3591C>G (p.Leu1197=) c.1432C>G c.3558C>G (p.Leu1186=) c.1134C>G (p.Leu378=) n.118C>G n.1134C>G c.3501C>G (p.Leu1167=) c.3372C>G (p.Leu1124=) c.3360C>G (p.Leu1120=) c.3333C>G (p.Leu1111=) n.3911C>G n.3913C>G c.3681C>G (p.Leu1227=) c.3450C>G (p.Leu1150=) n.3696C>G | |
11 | g.77189431C>T | CA475795963 | MYO7A | c.3591C>T (p.Leu1197=) c.1432C>T c.3558C>T (p.Leu1186=) c.1134C>T (p.Leu378=) n.118C>T n.1134C>T c.3501C>T (p.Leu1167=) c.3372C>T (p.Leu1124=) c.3360C>T (p.Leu1120=) c.3333C>T (p.Leu1111=) n.3911C>T n.3913C>T c.3681C>T (p.Leu1227=) c.3450C>T (p.Leu1150=) n.3696C>T | |
11 | g.77189432T>A | CA381947009 | MYO7A | c.3592T>A (p.Cys1198Ser) c.1433T>A c.3559T>A (p.Cys1187Ser) c.1135T>A (p.Cys379Ser) n.119T>A n.1135T>A c.3502T>A (p.Cys1168Ser) c.3373T>A (p.Cys1125Ser) c.3361T>A (p.Cys1121Ser) c.3334T>A (p.Cys1112Ser) n.3912T>A n.3914T>A c.3682T>A (p.Cys1228Ser) c.3451T>A (p.Cys1151Ser) n.3697T>A | |
11 | g.77189432T>C | CA381947008 | MYO7A | c.3592T>C (p.Cys1198Arg) c.1433T>C c.3559T>C (p.Cys1187Arg) c.1135T>C (p.Cys379Arg) n.119T>C n.1135T>C c.3502T>C (p.Cys1168Arg) c.3373T>C (p.Cys1125Arg) c.3361T>C (p.Cys1121Arg) c.3334T>C (p.Cys1112Arg) n.3912T>C n.3914T>C c.3682T>C (p.Cys1228Arg) c.3451T>C (p.Cys1151Arg) n.3697T>C | gnomAD v4 |
11 | g.77189432T>G | CA381947010 | MYO7A | c.3592T>G (p.Cys1198Gly) c.1433T>G c.3559T>G (p.Cys1187Gly) c.1135T>G (p.Cys379Gly) n.119T>G n.1135T>G c.3502T>G (p.Cys1168Gly) c.3373T>G (p.Cys1125Gly) c.3361T>G (p.Cys1121Gly) c.3334T>G (p.Cys1112Gly) n.3912T>G n.3914T>G c.3682T>G (p.Cys1228Gly) c.3451T>G (p.Cys1151Gly) n.3697T>G | |
11 | g.77189433G>A | CA381947011 | MYO7A | c.3593G>A (p.Cys1198Tyr) c.1434G>A c.3560G>A (p.Cys1187Tyr) c.1136G>A (p.Cys379Tyr) n.120G>A n.1136G>A c.3503G>A (p.Cys1168Tyr) c.3374G>A (p.Cys1125Tyr) c.3362G>A (p.Cys1121Tyr) c.3335G>A (p.Cys1112Tyr) n.3913G>A n.3915G>A c.3683G>A (p.Cys1228Tyr) c.3452G>A (p.Cys1151Tyr) n.3698G>A | gnomAD v4 |
11 | g.77189433G>C | CA6198120 | MYO7A | c.3593G>C (p.Cys1198Ser) c.1434G>C c.3560G>C (p.Cys1187Ser) c.1136G>C (p.Cys379Ser) n.120G>C n.1136G>C c.3503G>C (p.Cys1168Ser) c.3374G>C (p.Cys1125Ser) c.3362G>C (p.Cys1121Ser) c.3335G>C (p.Cys1112Ser) n.3913G>C n.3915G>C c.3683G>C (p.Cys1228Ser) c.3452G>C (p.Cys1151Ser) n.3698G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77189433G= | CA1984122511 | MYO7A | c.3593G= (p.Cys1198=) c.1434G= c.3560G= (p.Cys1187=) c.1136G= (p.Cys379=) n.120G= n.1136G= c.3503G= (p.Cys1168=) c.3374G= (p.Cys1125=) c.3362G= (p.Cys1121=) c.3335G= (p.Cys1112=) n.3913G= n.3915G= c.3683G= (p.Cys1228=) c.3452G= (p.Cys1151=) n.3698G= | |
11 | g.77189433G>T | CA381947012 | MYO7A | c.3593G>T (p.Cys1198Phe) c.1434G>T c.3560G>T (p.Cys1187Phe) c.1136G>T (p.Cys379Phe) n.120G>T n.1136G>T c.3503G>T (p.Cys1168Phe) c.3374G>T (p.Cys1125Phe) c.3362G>T (p.Cys1121Phe) c.3335G>T (p.Cys1112Phe) n.3913G>T n.3915G>T c.3683G>T (p.Cys1228Phe) c.3452G>T (p.Cys1151Phe) n.3698G>T | |
11 | g.77189434C>A | CA6198121 | MYO7A | c.3594C>A (p.Cys1198Ter) c.1435C>A c.3561C>A (p.Cys1187Ter) c.1137C>A (p.Cys379Ter) n.121C>A n.1137C>A c.3504C>A (p.Cys1168Ter) c.3375C>A (p.Cys1125Ter) c.3363C>A (p.Cys1121Ter) c.3336C>A (p.Cys1112Ter) n.3914C>A n.3916C>A c.3684C>A (p.Cys1228Ter) c.3453C>A (p.Cys1151Ter) n.3699C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189434C= | CA1984122514 | MYO7A | c.3594C= (p.Cys1198=) c.1435C= c.3561C= (p.Cys1187=) c.1137C= (p.Cys379=) n.121C= n.1137C= c.3504C= (p.Cys1168=) c.3375C= (p.Cys1125=) c.3363C= (p.Cys1121=) c.3336C= (p.Cys1112=) n.3914C= n.3916C= c.3684C= (p.Cys1228=) c.3453C= (p.Cys1151=) n.3699C= | |
11 | g.77189434C>G | CA381947013 | MYO7A | c.3594C>G (p.Cys1198Trp) c.1435C>G c.3561C>G (p.Cys1187Trp) c.1137C>G (p.Cys379Trp) n.121C>G n.1137C>G c.3504C>G (p.Cys1168Trp) c.3375C>G (p.Cys1125Trp) c.3363C>G (p.Cys1121Trp) c.3336C>G (p.Cys1112Trp) n.3914C>G n.3916C>G c.3684C>G (p.Cys1228Trp) c.3453C>G (p.Cys1151Trp) n.3699C>G | |
11 | g.77189434C>T | CA6198122 | MYO7A | c.3594C>T (p.Cys1198=) c.1435C>T c.3561C>T (p.Cys1187=) c.1137C>T (p.Cys379=) n.121C>T n.1137C>T c.3504C>T (p.Cys1168=) c.3375C>T (p.Cys1125=) c.3363C>T (p.Cys1121=) c.3336C>T (p.Cys1112=) n.3914C>T n.3916C>T c.3684C>T (p.Cys1228=) c.3453C>T (p.Cys1151=) n.3699C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77189435G>A | CA6198123 | MYO7A | c.3595G>A (p.Val1199Met) c.1436G>A c.3562G>A (p.Val1188Met) c.1138G>A (p.Val380Met) n.122G>A n.1138G>A c.3505G>A (p.Val1169Met) c.3376G>A (p.Val1126Met) c.3364G>A (p.Val1122Met) c.3337G>A (p.Val1113Met) n.3915G>A n.3917G>A c.3685G>A (p.Val1229Met) c.3454G>A (p.Val1152Met) n.3700G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77189435G>C | CA381947014 | MYO7A | c.3595G>C (p.Val1199Leu) c.1436G>C c.3562G>C (p.Val1188Leu) c.1138G>C (p.Val380Leu) n.122G>C n.1138G>C c.3505G>C (p.Val1169Leu) c.3376G>C (p.Val1126Leu) c.3364G>C (p.Val1122Leu) c.3337G>C (p.Val1113Leu) n.3915G>C n.3917G>C c.3685G>C (p.Val1229Leu) c.3454G>C (p.Val1152Leu) n.3700G>C | gnomAD v4 |
11 | g.77189435G= | CA1984122520 | MYO7A | c.3595G= (p.Val1199=) c.1436G= c.3562G= (p.Val1188=) c.1138G= (p.Val380=) n.122G= n.1138G= c.3505G= (p.Val1169=) c.3376G= (p.Val1126=) c.3364G= (p.Val1122=) c.3337G= (p.Val1113=) n.3915G= n.3917G= c.3685G= (p.Val1229=) c.3454G= (p.Val1152=) n.3700G= | |
11 | g.77189435G>T | CA381947015 | MYO7A | c.3595G>T (p.Val1199Leu) c.1436G>T c.3562G>T (p.Val1188Leu) c.1138G>T (p.Val380Leu) n.122G>T n.1138G>T c.3505G>T (p.Val1169Leu) c.3376G>T (p.Val1126Leu) c.3364G>T (p.Val1122Leu) c.3337G>T (p.Val1113Leu) n.3915G>T n.3917G>T c.3685G>T (p.Val1229Leu) c.3454G>T (p.Val1152Leu) n.3700G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77189436T>A | CA381947016 | MYO7A | c.3596T>A (p.Val1199Glu) c.1437T>A c.3563T>A (p.Val1188Glu) c.1139T>A (p.Val380Glu) n.123T>A n.1139T>A c.3506T>A (p.Val1169Glu) c.3377T>A (p.Val1126Glu) c.3365T>A (p.Val1122Glu) c.3338T>A (p.Val1113Glu) n.3916T>A n.3918T>A c.3686T>A (p.Val1229Glu) c.3455T>A (p.Val1152Glu) n.3701T>A | |
11 | g.77189436T>C | CA381947017 | MYO7A | c.3596T>C (p.Val1199Ala) c.1437T>C c.3563T>C (p.Val1188Ala) c.1139T>C (p.Val380Ala) n.123T>C n.1139T>C c.3506T>C (p.Val1169Ala) c.3377T>C (p.Val1126Ala) c.3365T>C (p.Val1122Ala) c.3338T>C (p.Val1113Ala) n.3916T>C n.3918T>C c.3686T>C (p.Val1229Ala) c.3455T>C (p.Val1152Ala) n.3701T>C | |
11 | g.77189436T>G | CA381947018 | MYO7A | c.3596T>G (p.Val1199Gly) c.1437T>G c.3563T>G (p.Val1188Gly) c.1139T>G (p.Val380Gly) n.123T>G n.1139T>G c.3506T>G (p.Val1169Gly) c.3377T>G (p.Val1126Gly) c.3365T>G (p.Val1122Gly) c.3338T>G (p.Val1113Gly) n.3916T>G n.3918T>G c.3686T>G (p.Val1229Gly) c.3455T>G (p.Val1152Gly) n.3701T>G | |
11 | g.77189436dup | CA2573053567 | MYO7A | c.3596dup (p.Cys1201LeufsTer28) c.1437dup c.3563dup (p.Cys1190LeufsTer28) c.1139dup (p.Cys382LeufsTer28) n.123dup n.1139dup c.3506dup (p.Cys1171LeufsTer28) c.3377dup (p.Cys1128LeufsTer28) c.3365dup (p.Cys1124LeufsTer28) c.3338dup (p.Cys1115LeufsTer28) n.3916dup n.3918dup c.3686dup (p.Cys1231LeufsTer28) c.3455dup (p.Cys1154LeufsTer28) n.3701dup | ClinVar dbSNP |
11 | g.77189437G>A | CA475795965 | MYO7A | c.3597G>A (p.Val1199=) c.1438G>A c.3564G>A (p.Val1188=) c.1140G>A (p.Val380=) n.124G>A n.1140G>A c.3507G>A (p.Val1169=) c.3378G>A (p.Val1126=) c.3366G>A (p.Val1122=) c.3339G>A (p.Val1113=) n.3917G>A n.3919G>A c.3687G>A (p.Val1229=) c.3456G>A (p.Val1152=) n.3702G>A | |
11 | g.77189437G>C | CA475795966 | MYO7A | c.3597G>C (p.Val1199=) c.1438G>C c.3564G>C (p.Val1188=) c.1140G>C (p.Val380=) n.124G>C n.1140G>C c.3507G>C (p.Val1169=) c.3378G>C (p.Val1126=) c.3366G>C (p.Val1122=) c.3339G>C (p.Val1113=) n.3917G>C n.3919G>C c.3687G>C (p.Val1229=) c.3456G>C (p.Val1152=) n.3702G>C | |
11 | g.77189437G>T | CA475795967 | MYO7A | c.3597G>T (p.Val1199=) c.1438G>T c.3564G>T (p.Val1188=) c.1140G>T (p.Val380=) n.124G>T n.1140G>T c.3507G>T (p.Val1169=) c.3378G>T (p.Val1126=) c.3366G>T (p.Val1122=) c.3339G>T (p.Val1113=) n.3917G>T n.3919G>T c.3687G>T (p.Val1229=) c.3456G>T (p.Val1152=) n.3702G>T | |
11 | g.77189438G>A | CA224843691 | MYO7A | c.3598G>A (p.Gly1200Ser) c.1439G>A c.3565G>A (p.Gly1189Ser) c.1141G>A (p.Gly381Ser) n.125G>A n.1141G>A c.3508G>A (p.Gly1170Ser) c.3379G>A (p.Gly1127Ser) c.3367G>A (p.Gly1123Ser) c.3340G>A (p.Gly1114Ser) n.3918G>A n.3920G>A c.3688G>A (p.Gly1230Ser) c.3457G>A (p.Gly1153Ser) n.3703G>A | dbSNP gnomAD v4 |
11 | g.77189438G>C | CA381947019 | MYO7A | c.3598G>C (p.Gly1200Arg) c.1439G>C c.3565G>C (p.Gly1189Arg) c.1141G>C (p.Gly381Arg) n.125G>C n.1141G>C c.3508G>C (p.Gly1170Arg) c.3379G>C (p.Gly1127Arg) c.3367G>C (p.Gly1123Arg) c.3340G>C (p.Gly1114Arg) n.3918G>C n.3920G>C c.3688G>C (p.Gly1230Arg) c.3457G>C (p.Gly1153Arg) n.3703G>C | |
11 | g.77189438G= | CA1984122523 | MYO7A | c.3598G= (p.Gly1200=) c.1439G= c.3565G= (p.Gly1189=) c.1141G= (p.Gly381=) n.125G= n.1141G= c.3508G= (p.Gly1170=) c.3379G= (p.Gly1127=) c.3367G= (p.Gly1123=) c.3340G= (p.Gly1114=) n.3918G= n.3920G= c.3688G= (p.Gly1230=) c.3457G= (p.Gly1153=) n.3703G= | |
11 | g.77189438G>T | CA381947020 | MYO7A | c.3598G>T (p.Gly1200Cys) c.1439G>T c.3565G>T (p.Gly1189Cys) c.1141G>T (p.Gly381Cys) n.125G>T n.1141G>T c.3508G>T (p.Gly1170Cys) c.3379G>T (p.Gly1127Cys) c.3367G>T (p.Gly1123Cys) c.3340G>T (p.Gly1114Cys) n.3918G>T n.3920G>T c.3688G>T (p.Gly1230Cys) c.3457G>T (p.Gly1153Cys) n.3703G>T | |
11 | g.77189439G>A | CA381947021 | MYO7A | c.3599G>A (p.Gly1200Asp) c.1440G>A c.3566G>A (p.Gly1189Asp) c.1142G>A (p.Gly381Asp) n.126G>A n.1142G>A c.3509G>A (p.Gly1170Asp) c.3380G>A (p.Gly1127Asp) c.3368G>A (p.Gly1123Asp) c.3341G>A (p.Gly1114Asp) n.3919G>A n.3921G>A c.3689G>A (p.Gly1230Asp) c.3458G>A (p.Gly1153Asp) n.3704G>A | |
11 | g.77189439G>C | CA381947022 | MYO7A | c.3599G>C (p.Gly1200Ala) c.1440G>C c.3566G>C (p.Gly1189Ala) c.1142G>C (p.Gly381Ala) n.126G>C n.1142G>C c.3509G>C (p.Gly1170Ala) c.3380G>C (p.Gly1127Ala) c.3368G>C (p.Gly1123Ala) c.3341G>C (p.Gly1114Ala) n.3919G>C n.3921G>C c.3689G>C (p.Gly1230Ala) c.3458G>C (p.Gly1153Ala) n.3704G>C | |
11 | g.77189439G>T | CA381947023 | MYO7A | c.3599G>T (p.Gly1200Val) c.1440G>T c.3566G>T (p.Gly1189Val) c.1142G>T (p.Gly381Val) n.126G>T n.1142G>T c.3509G>T (p.Gly1170Val) c.3380G>T (p.Gly1127Val) c.3368G>T (p.Gly1123Val) c.3341G>T (p.Gly1114Val) n.3919G>T n.3921G>T c.3689G>T (p.Gly1230Val) c.3458G>T (p.Gly1153Val) n.3704G>T | |
11 | g.77189440C>A | CA475795968 | MYO7A | c.3600C>A (p.Gly1200=) c.1441C>A c.3567C>A (p.Gly1189=) c.1143C>A (p.Gly381=) n.127C>A n.1143C>A c.3510C>A (p.Gly1170=) c.3381C>A (p.Gly1127=) c.3369C>A (p.Gly1123=) c.3342C>A (p.Gly1114=) n.3920C>A n.3922C>A c.3690C>A (p.Gly1230=) c.3459C>A (p.Gly1153=) n.3705C>A | |
11 | g.77189440C>G | CA475795969 | MYO7A | c.3600C>G (p.Gly1200=) c.1441C>G c.3567C>G (p.Gly1189=) c.1143C>G (p.Gly381=) n.127C>G n.1143C>G c.3510C>G (p.Gly1170=) c.3381C>G (p.Gly1127=) c.3369C>G (p.Gly1123=) c.3342C>G (p.Gly1114=) n.3920C>G n.3922C>G c.3690C>G (p.Gly1230=) c.3459C>G (p.Gly1153=) n.3705C>G | |
11 | g.77189440C>T | CA475795970 | MYO7A | c.3600C>T (p.Gly1200=) c.1441C>T c.3567C>T (p.Gly1189=) c.1143C>T (p.Gly381=) n.127C>T n.1143C>T c.3510C>T (p.Gly1170=) c.3381C>T (p.Gly1127=) c.3369C>T (p.Gly1123=) c.3342C>T (p.Gly1114=) n.3920C>T n.3922C>T c.3690C>T (p.Gly1230=) c.3459C>T (p.Gly1153=) n.3705C>T | |
11 | g.77189441T>A | CA381947024 | MYO7A | c.3601T>A (p.Cys1201Ser) c.1442T>A c.3568T>A (p.Cys1190Ser) c.1144T>A (p.Cys382Ser) n.128T>A n.1144T>A c.3511T>A (p.Cys1171Ser) c.3382T>A (p.Cys1128Ser) c.3370T>A (p.Cys1124Ser) c.3343T>A (p.Cys1115Ser) n.3921T>A n.3923T>A c.3691T>A (p.Cys1231Ser) c.3460T>A (p.Cys1154Ser) n.3706T>A | |
11 | g.77189441T>C | CA381947025 | MYO7A | c.3601T>C (p.Cys1201Arg) c.1442T>C c.3568T>C (p.Cys1190Arg) c.1144T>C (p.Cys382Arg) n.128T>C n.1144T>C c.3511T>C (p.Cys1171Arg) c.3382T>C (p.Cys1128Arg) c.3370T>C (p.Cys1124Arg) c.3343T>C (p.Cys1115Arg) n.3921T>C n.3923T>C c.3691T>C (p.Cys1231Arg) c.3460T>C (p.Cys1154Arg) n.3706T>C | |
11 | g.77189441T>G | CA381947026 | MYO7A | c.3601T>G (p.Cys1201Gly) c.1442T>G c.3568T>G (p.Cys1190Gly) c.1144T>G (p.Cys382Gly) n.128T>G n.1144T>G c.3511T>G (p.Cys1171Gly) c.3382T>G (p.Cys1128Gly) c.3370T>G (p.Cys1124Gly) c.3343T>G (p.Cys1115Gly) n.3921T>G n.3923T>G c.3691T>G (p.Cys1231Gly) c.3460T>G (p.Cys1154Gly) n.3706T>G | |
11 | g.77189442G>A | CA16043772 | MYO7A | c.3602G>A (p.Cys1201Tyr) c.1443G>A c.3569G>A (p.Cys1190Tyr) c.1145G>A (p.Cys382Tyr) n.129G>A n.1145G>A c.3512G>A (p.Cys1171Tyr) c.3383G>A (p.Cys1128Tyr) c.3371G>A (p.Cys1124Tyr) c.3344G>A (p.Cys1115Tyr) n.3922G>A n.3924G>A c.3692G>A (p.Cys1231Tyr) c.3461G>A (p.Cys1154Tyr) n.3707G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189442G>C | CA132299 | MYO7A | c.3602G>C (p.Cys1201Ser) c.1443G>C c.3569G>C (p.Cys1190Ser) c.1145G>C (p.Cys382Ser) n.129G>C n.1145G>C c.3512G>C (p.Cys1171Ser) c.3383G>C (p.Cys1128Ser) c.3371G>C (p.Cys1124Ser) c.3344G>C (p.Cys1115Ser) n.3922G>C n.3924G>C c.3692G>C (p.Cys1231Ser) c.3461G>C (p.Cys1154Ser) n.3707G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77189442G= | CA1984122525 | MYO7A | c.3602G= (p.Cys1201=) c.1443G= c.3569G= (p.Cys1190=) c.1145G= (p.Cys382=) n.129G= n.1145G= c.3512G= (p.Cys1171=) c.3383G= (p.Cys1128=) c.3371G= (p.Cys1124=) c.3344G= (p.Cys1115=) n.3922G= n.3924G= c.3692G= (p.Cys1231=) c.3461G= (p.Cys1154=) n.3707G= | |
11 | g.77189442G>T | CA381947027 | MYO7A | c.3602G>T (p.Cys1201Phe) c.1443G>T c.3569G>T (p.Cys1190Phe) c.1145G>T (p.Cys382Phe) n.129G>T n.1145G>T c.3512G>T (p.Cys1171Phe) c.3383G>T (p.Cys1128Phe) c.3371G>T (p.Cys1124Phe) c.3344G>T (p.Cys1115Phe) n.3922G>T n.3924G>T c.3692G>T (p.Cys1231Phe) c.3461G>T (p.Cys1154Phe) n.3707G>T | gnomAD v4 |
11 | g.77189443T>A | CA381947028 | MYO7A | c.3603T>A (p.Cys1201Ter) c.1444T>A c.3570T>A (p.Cys1190Ter) c.1146T>A (p.Cys382Ter) n.130T>A n.1146T>A c.3513T>A (p.Cys1171Ter) c.3384T>A (p.Cys1128Ter) c.3372T>A (p.Cys1124Ter) c.3345T>A (p.Cys1115Ter) n.3923T>A n.3925T>A c.3693T>A (p.Cys1231Ter) c.3462T>A (p.Cys1154Ter) n.3708T>A | gnomAD v4 |
11 | g.77189443T>C | CA475795971 | MYO7A | c.3603T>C (p.Cys1201=) c.1444T>C c.3570T>C (p.Cys1190=) c.1146T>C (p.Cys382=) n.130T>C n.1146T>C c.3513T>C (p.Cys1171=) c.3384T>C (p.Cys1128=) c.3372T>C (p.Cys1124=) c.3345T>C (p.Cys1115=) n.3923T>C n.3925T>C c.3693T>C (p.Cys1231=) c.3462T>C (p.Cys1154=) n.3708T>C | |
11 | g.77189443T>G | CA381947029 | MYO7A | c.3603T>G (p.Cys1201Trp) c.1444T>G c.3570T>G (p.Cys1190Trp) c.1146T>G (p.Cys382Trp) n.130T>G n.1146T>G c.3513T>G (p.Cys1171Trp) c.3384T>G (p.Cys1128Trp) c.3372T>G (p.Cys1124Trp) c.3345T>G (p.Cys1115Trp) n.3923T>G n.3925T>G c.3693T>G (p.Cys1231Trp) c.3462T>G (p.Cys1154Trp) n.3708T>G |