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