Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77189363_77189374delCA2695214996MYO7Ac.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
11g.77189371_77189372delinsGCCA1984122393MYO7Ac.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
11g.77189372delCA278650MYO7Ac.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
11g.77189372C>ACA381946886MYO7Ac.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
11g.77189372C>GCA381946884MYO7Ac.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
11g.77189372C>TCA381946885MYO7Ac.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
11g.77189373A=CA1984122400MYO7Ac.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=
11g.77189373A>CCA278651MYO7Ac.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
11g.77189373A>GCA381946887MYO7Ac.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
11g.77189373A>TCA381946888MYO7Ac.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
11g.77189374G>ACA475795925MYO7Ac.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
11g.77189374G>CCA381946889MYO7Ac.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
11g.77189374G>TCA381946890MYO7Ac.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
11g.77189375C>ACA381946891MYO7Ac.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
11g.77189375C=CA1984122406MYO7Ac.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=
11g.77189375C>GCA381946892MYO7Ac.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
11g.77189375C>TCA6198107MYO7Ac.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
11g.77189376T>ACA6198108MYO7Ac.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
11g.77189376T>CCA381946893MYO7Ac.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
11g.77189376T>GCA381946894MYO7Ac.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
11g.77189376T=CA1984122413MYO7Ac.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=
11g.77189377G>ACA475795926MYO7Ac.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
11g.77189377G>CCA475795927MYO7Ac.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
11g.77189377G>TCA475795928MYO7Ac.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
11g.77189378A=CA1984122415MYO7Ac.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=
11g.77189378A>CCA381946896MYO7Ac.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
11g.77189378A>GCA381946897MYO7Ac.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
11g.77189378A>TCA381946895MYO7Ac.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
11g.77189379C>ACA381946900MYO7Ac.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
11g.77189379C>GCA381946898MYO7Ac.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
11g.77189379C>TCA381946899MYO7Ac.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
11g.77189380C>ACA475795930MYO7Ac.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
11g.77189380C=CA1984122419MYO7Ac.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=
11g.77189380C>GCA475795931MYO7Ac.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
11g.77189380C>TCA475795929MYO7Ac.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
11g.77189381C>ACA381946901MYO7Ac.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
11g.77189381C>GCA381946902MYO7Ac.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
11g.77189381C>TCA381946903MYO7Ac.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
11g.77189383_77189384dupCA278653MYO7Ac.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
11g.77189382A>CCA381946904MYO7Ac.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
11g.77189382A>GCA381946905MYO7Ac.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
11g.77189382A>TCA381946906MYO7Ac.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
11g.77189383C>ACA381946907MYO7Ac.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
11g.77189383C>GCA381946908MYO7Ac.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
11g.77189383C>TCA475795932MYO7Ac.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
11g.77189384A=CA1984122428MYO7Ac.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=
11g.77189384A>CCA381946909MYO7Ac.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
11g.77189384A>GCA6198109MYO7Ac.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
11g.77189384A>TCA381946910MYO7Ac.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
11g.77189385A=CA1984122430MYO7Ac.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=

Number of alleles fetched