Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77189358G>ACA381946851MYO7Ac.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
11g.77189358G>CCA381946852MYO7Ac.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
11g.77189358G=CA1984122364MYO7Ac.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=
11g.77189358G>TCA6198104MYO7Ac.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
11g.77189359C>ACA381946853MYO7Ac.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
11g.77189359C=CA1984122370MYO7Ac.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=
11g.77189359C>GCA6198105MYO7Ac.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
11g.77189359C>TCA475795920MYO7Ac.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
11g.77189360C>ACA381946854MYO7Ac.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
11g.77189360C>GCA381946855MYO7Ac.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
11g.77189360C>TCA381946856MYO7Ac.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
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.77189361A>CCA381946857MYO7Ac.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
11g.77189361A>GCA381946859MYO7Ac.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
11g.77189361A>TCA381946858MYO7Ac.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
11g.77189362G>ACA6198106MYO7Ac.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
11g.77189362G>CCA381946860MYO7Ac.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
11g.77189362G=CA1984122376MYO7Ac.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=
11g.77189362G>TCA381946861MYO7Ac.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
11g.77189363A>CCA381946862MYO7Ac.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
11g.77189363A>GCA381946863MYO7Ac.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
11g.77189363A>TCA381946864MYO7Ac.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
11g.77189364T>ACA381946865MYO7Ac.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
11g.77189364T>CCA381946866MYO7Ac.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
11g.77189364T>GCA381946867MYO7Ac.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
11g.77189365C>ACA475795921MYO7Ac.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
11g.77189365C>GCA381946868MYO7Ac.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
11g.77189365C>TCA475795922MYO7Ac.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
11g.77189366A>CCA381946871MYO7Ac.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
11g.77189366A>GCA381946870MYO7Ac.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
11g.77189366A>TCA381946869MYO7Ac.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
11g.77189367G>ACA242907MYO7Ac.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
11g.77189367G>CCA381946872MYO7Ac.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
11g.77189367G=CA1984122388MYO7Ac.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=
11g.77189367G>TCA381946873MYO7Ac.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
11g.77189368C>ACA381946874MYO7Ac.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
11g.77189368C=CA1984122391MYO7Ac.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=
11g.77189368C>GCA381946875MYO7Ac.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
11g.77189368C>TCA475795923MYO7Ac.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
11g.77189369A>CCA381946876MYO7Ac.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
11g.77189369A>GCA381946877MYO7Ac.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
11g.77189369A>TCA381946878MYO7Ac.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
11g.77189370A>CCA381946879MYO7Ac.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
11g.77189370A>GCA381946880MYO7Ac.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
11g.77189370A>TCA381946881MYO7Ac.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
11g.77189371G>ACA475795924MYO7Ac.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
11g.77189371G>CCA381946882MYO7Ac.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
11g.77189371G>TCA381946883MYO7Ac.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
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=
11g.77189385A>CCA381946912MYO7Ac.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
11g.77189385A>GCA6198110MYO7Ac.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
11g.77189385A>TCA381946911MYO7Ac.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
11g.77189386C>ACA381946913MYO7Ac.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
11g.77189386C=CA1984122439MYO7Ac.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=
11g.77189386C>GCA381946914MYO7Ac.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
11g.77189386C>TCA475795933MYO7Ac.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
11g.77189389delCA2695214997MYO7Ac.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
11g.77189387C>ACA381946915MYO7Ac.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
11g.77189387C>GCA381946916MYO7Ac.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
11g.77189387C>TCA381946917MYO7Ac.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
11g.77189388C>ACA381946918MYO7Ac.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
11g.77189388C=CA1984122442MYO7Ac.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=
11g.77189388C>GCA381946919MYO7Ac.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
11g.77189388C>TCA381946920MYO7Ac.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
11g.77189389C>ACA475795934MYO7Ac.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
11g.77189389C>GCA475795935MYO7Ac.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
11g.77189389C>TCA475795936MYO7Ac.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
11g.77189390T>ACA381946921MYO7Ac.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
11g.77189390T>CCA381946922MYO7Ac.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
11g.77189390T>GCA381946923MYO7Ac.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
11g.77189391C>ACA381946924MYO7Ac.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
11g.77189391C=CA1984122444MYO7Ac.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=
11g.77189391C>GCA381946925MYO7Ac.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
11g.77189391C>TCA381946926MYO7Ac.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
11g.77189392C>ACA475795937MYO7Ac.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
11g.77189392C>GCA475795938MYO7Ac.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
11g.77189392C>TCA475795939MYO7Ac.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
11g.77189393A>CCA381946928MYO7Ac.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
11g.77189393A>GCA381946929MYO7Ac.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
11g.77189393A>TCA381946927MYO7Ac.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
11g.77189394A>CCA381946930MYO7Ac.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
11g.77189394A>GCA381946931MYO7Ac.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
11g.77189394A>TCA381946932MYO7Ac.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
11g.77189395G>ACA6198111MYO7Ac.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
11g.77189395G>CCA381946933MYO7Ac.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
11g.77189395G=CA1984122446MYO7Ac.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=
11g.77189395G>TCA381946934MYO7Ac.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
11g.77189396A>CCA381946937MYO7Ac.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
11g.77189396A>GCA381946935MYO7Ac.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
11g.77189396A>TCA381946936MYO7Ac.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
11g.77189397G>ACA6198112MYO7Ac.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
11g.77189397G>CCA381946938MYO7Ac.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
11g.77189397G=CA1984122451MYO7Ac.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=
11g.77189397G>TCA381946939MYO7Ac.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
11g.77189398C>ACA381946940MYO7Ac.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
11g.77189398C>GCA381946941MYO7Ac.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
11g.77189398C>TCA475795940MYO7Ac.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
11g.77189399A>CCA381946942MYO7Ac.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
11g.77189399A>GCA381946944MYO7Ac.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
11g.77189399A>TCA381946943MYO7Ac.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
11g.77189400G>ACA381946945MYO7Ac.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
11g.77189400G>CCA381946946MYO7Ac.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
11g.77189400G=CA1984122457MYO7Ac.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=
11g.77189400G>TCA381946947MYO7Ac.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
11g.77189401C>ACA381946948MYO7Ac.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
11g.77189401C>GCA381946949MYO7Ac.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
11g.77189401C>TCA475795941MYO7Ac.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
11g.77189402T>ACA381946950MYO7Ac.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
11g.77189402T>CCA381946951MYO7Ac.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
11g.77189402T>GCA381946952MYO7Ac.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
11g.77189403A=CA1984122466MYO7Ac.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=
11g.77189403A>CCA381946953MYO7Ac.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
11g.77189403A>GCA6198113MYO7Ac.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
11g.77189403A>TCA381946954MYO7Ac.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
11g.77189403_77189410delinsATGCCCGGCA1984122461MYO7Ac.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
11g.77189403_77189411delinsATGCCCGGGCA1984122464MYO7Ac.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
11g.77189404T>ACA381946955MYO7Ac.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
11g.77189404T>CCA475795942MYO7Ac.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
11g.77189404T>GCA381946956MYO7Ac.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
11g.77189404T=CA1984122470MYO7Ac.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=
11g.77189404_77189410delCA1984122469MYO7Ac.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
11g.77189404_77189410delinsACA2695214998MYO7Ac.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
11g.77189404_77189411delinsACA278742MYO7Ac.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
11g.77189405G>ACA381946957MYO7Ac.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
11g.77189405G>CCA381946959MYO7Ac.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
11g.77189405G>TCA381946958MYO7Ac.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
11g.77189406C>ACA381946960MYO7Ac.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
11g.77189406C=CA1984122472MYO7Ac.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=
11g.77189406C>GCA381946961MYO7Ac.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
11g.77189406C>TCA6198114MYO7Ac.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
11g.77189407C>ACA475795943MYO7Ac.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
11g.77189407C=CA1984122475MYO7Ac.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=
11g.77189407C>GCA475795944MYO7Ac.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
11g.77189407C>TCA6198115MYO7Ac.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
11g.77189407_77189408delinsTTCA645585229MYO7Ac.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
11g.77189408C>ACA475795945MYO7Ac.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
11g.77189408C=CA1984122477MYO7Ac.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=
11g.77189408C>GCA6198117MYO7Ac.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
11g.77189408C>TCA6198116MYO7Ac.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
11g.77189409G>ACA6198118MYO7Ac.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
11g.77189409G>CCA381946962MYO7Ac.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
11g.77189409G=CA1984122479MYO7Ac.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=
11g.77189409G>TCA381946963MYO7Ac.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
11g.77189412dupCA2792787223MYO7Ac.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
11g.77189410G>ACA475795946MYO7Ac.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
11g.77189410G>CCA475795947MYO7Ac.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
11g.77189410G=CA1984122481MYO7Ac.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=
11g.77189410G>TCA475795948MYO7Ac.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
11g.77189411G>ACA381946964MYO7Ac.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
11g.77189411G>CCA381946965MYO7Ac.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
11g.77189411G=CA1984122483MYO7Ac.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=
11g.77189411G>TCA381946966MYO7Ac.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
11g.77189412G>ACA278654MYO7Ac.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
11g.77189412G>CCA381946968MYO7Ac.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
11g.77189412G=CA1984122486MYO7Ac.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=
11g.77189412G>TCA381946967MYO7Ac.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
11g.77189413C>ACA475795949MYO7Ac.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
11g.77189413C>GCA475795950MYO7Ac.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
11g.77189413C>TCA475795951MYO7Ac.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
11g.77189414T>ACA381946969MYO7Ac.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
11g.77189414T>CCA381946970MYO7Ac.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
11g.77189414T>GCA381946971MYO7Ac.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
11g.77189415G>ACA381946972MYO7Ac.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
11g.77189415G>CCA381946973MYO7Ac.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
11g.77189415G>TCA381946974MYO7Ac.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
11g.77189416G>ACA381946975MYO7Ac.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
11g.77189416G>CCA381946976MYO7Ac.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
11g.77189416G=CA1984122489MYO7Ac.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=
11g.77189416G>TCA381946977MYO7Ac.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
11g.77189417A>CCA381946979MYO7Ac.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
11g.77189417A>GCA381946980MYO7Ac.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
11g.77189417A>TCA381946978MYO7Ac.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
11g.77189418T>ACA381946981MYO7Ac.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
11g.77189418T>CCA381946982MYO7Ac.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
11g.77189418T>GCA381946983MYO7Ac.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
11g.77189419T>ACA475795953MYO7Ac.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
11g.77189419T>CCA475795952MYO7Ac.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
11g.77189419T>GCA381946984MYO7Ac.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
11g.77189419T=CA1984122491MYO7Ac.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=
11g.77189419_77189420insACA224843679MYO7Ac.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
11g.77189420C>ACA381946985MYO7Ac.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
11g.77189420C>GCA381946986MYO7Ac.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
11g.77189420C>TCA381946987MYO7Ac.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
11g.77189421T>ACA381946988MYO7Ac.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
11g.77189421T>CCA381946989MYO7Ac.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
11g.77189421T>GCA381946990MYO7Ac.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
11g.77189422C>ACA475795954MYO7Ac.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
11g.77189422C=CA1984122495MYO7Ac.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=
11g.77189422C>GCA475795955MYO7Ac.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
11g.77189422C>TCA10604785MYO7Ac.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
11g.77189423G>ACA6198119MYO7Ac.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
11g.77189423G>CCA381946992MYO7Ac.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
11g.77189423G=CA1984122497MYO7Ac.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=
11g.77189423G>TCA381946991MYO7Ac.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
11g.77189424T>ACA381946993MYO7Ac.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
11g.77189424T>CCA381946994MYO7Ac.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
11g.77189424T>GCA381946995MYO7Ac.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
11g.77189425G>ACA475795956MYO7Ac.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
11g.77189425G>CCA475795957MYO7Ac.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
11g.77189425G>TCA475795958MYO7Ac.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
11g.77189425_77189427delinsGTCCA1984122500MYO7Ac.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
11g.77189426T>ACA381946998MYO7Ac.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
11g.77189426T>CCA381946997MYO7Ac.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
11g.77189426T>GCA381946996MYO7Ac.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
11g.77189426_77189427delinsATCA645585230MYO7Ac.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
11g.77189431_77189432delCA236388MYO7Ac.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
11g.77189427C>ACA381946999MYO7Ac.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
11g.77189427C=CA1984122506MYO7Ac.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=
11g.77189427C>GCA381947000MYO7Ac.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
11g.77189427C>TCA381947001MYO7Ac.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
11g.77189428T>ACA475795961MYO7Ac.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
11g.77189428T>CCA475795960MYO7Ac.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
11g.77189428T>GCA475795959MYO7Ac.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
11g.77189429C>ACA381947002MYO7Ac.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
11g.77189429C=CA1984122508MYO7Ac.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=
11g.77189429C>GCA381947003MYO7Ac.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
11g.77189429C>TCA381947004MYO7Ac.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
11g.77189430T>ACA381947006MYO7Ac.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
11g.77189430T>CCA381947007MYO7Ac.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
11g.77189430T>GCA381947005MYO7Ac.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
11g.77189430T=CA1984122510MYO7Ac.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=
11g.77189431C>ACA475795962MYO7Ac.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
11g.77189431C>GCA475795964MYO7Ac.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
11g.77189431C>TCA475795963MYO7Ac.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
11g.77189432T>ACA381947009MYO7Ac.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
11g.77189432T>CCA381947008MYO7Ac.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
11g.77189432T>GCA381947010MYO7Ac.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
11g.77189433G>ACA381947011MYO7Ac.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
11g.77189433G>CCA6198120MYO7Ac.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
11g.77189433G=CA1984122511MYO7Ac.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=
11g.77189433G>TCA381947012MYO7Ac.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
11g.77189434C>ACA6198121MYO7Ac.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
11g.77189434C=CA1984122514MYO7Ac.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=
11g.77189434C>GCA381947013MYO7Ac.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
11g.77189434C>TCA6198122MYO7Ac.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
11g.77189435G>ACA6198123MYO7Ac.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
11g.77189435G>CCA381947014MYO7Ac.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
11g.77189435G=CA1984122520MYO7Ac.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=
11g.77189435G>TCA381947015MYO7Ac.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
11g.77189436T>ACA381947016MYO7Ac.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
11g.77189436T>CCA381947017MYO7Ac.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
11g.77189436T>GCA381947018MYO7Ac.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
11g.77189436dupCA2573053567MYO7Ac.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
11g.77189437G>ACA475795965MYO7Ac.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
11g.77189437G>CCA475795966MYO7Ac.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
11g.77189437G>TCA475795967MYO7Ac.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
11g.77189438G>ACA224843691MYO7Ac.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
11g.77189438G>CCA381947019MYO7Ac.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
11g.77189438G=CA1984122523MYO7Ac.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=
11g.77189438G>TCA381947020MYO7Ac.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
11g.77189439G>ACA381947021MYO7Ac.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
11g.77189439G>CCA381947022MYO7Ac.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
11g.77189439G>TCA381947023MYO7Ac.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
11g.77189440C>ACA475795968MYO7Ac.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
11g.77189440C>GCA475795969MYO7Ac.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
11g.77189440C>TCA475795970MYO7Ac.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
11g.77189441T>ACA381947024MYO7Ac.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
11g.77189441T>CCA381947025MYO7Ac.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
11g.77189441T>GCA381947026MYO7Ac.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
11g.77189442G>ACA16043772MYO7Ac.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
11g.77189442G>CCA132299MYO7Ac.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
11g.77189442G=CA1984122525MYO7Ac.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=
11g.77189442G>TCA381947027MYO7Ac.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
11g.77189443T>ACA381947028MYO7Ac.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
11g.77189443T>CCA475795971MYO7Ac.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
11g.77189443T>GCA381947029MYO7Ac.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
11g.77189444T>ACA381947032MYO7Ac.3604T>A (p.Phe1202Ile)
c.1445T>A
c.3571T>A (p.Phe1191Ile)
c.1147T>A (p.Phe383Ile)
n.131T>A
n.1147T>A
c.3514T>A (p.Phe1172Ile)
c.3385T>A (p.Phe1129Ile)
c.3373T>A (p.Phe1125Ile)
c.3346T>A (p.Phe1116Ile)
n.3924T>A
n.3926T>A
c.3694T>A (p.Phe1232Ile)
c.3463T>A (p.Phe1155Ile)
n.3709T>A
 gnomAD v4
11g.77189444T>CCA381947031MYO7Ac.3604T>C (p.Phe1202Leu)
c.1445T>C
c.3571T>C (p.Phe1191Leu)
c.1147T>C (p.Phe383Leu)
n.131T>C
n.1147T>C
c.3514T>C (p.Phe1172Leu)
c.3385T>C (p.Phe1129Leu)
c.3373T>C (p.Phe1125Leu)
c.3346T>C (p.Phe1116Leu)
n.3924T>C
n.3926T>C
c.3694T>C (p.Phe1232Leu)
c.3463T>C (p.Phe1155Leu)
n.3709T>C
11g.77189444T>GCA381947030MYO7Ac.3604T>G (p.Phe1202Val)
c.1445T>G
c.3571T>G (p.Phe1191Val)
c.1147T>G (p.Phe383Val)
n.131T>G
n.1147T>G
c.3514T>G (p.Phe1172Val)
c.3385T>G (p.Phe1129Val)
c.3373T>G (p.Phe1125Val)
c.3346T>G (p.Phe1116Val)
n.3924T>G
n.3926T>G
c.3694T>G (p.Phe1232Val)
c.3463T>G (p.Phe1155Val)
n.3709T>G
11g.77189445T>ACA381947033MYO7Ac.3605T>A (p.Phe1202Tyr)
c.1446T>A
c.3572T>A (p.Phe1191Tyr)
c.1148T>A (p.Phe383Tyr)
n.132T>A
n.1148T>A
c.3515T>A (p.Phe1172Tyr)
c.3386T>A (p.Phe1129Tyr)
c.3374T>A (p.Phe1125Tyr)
c.3347T>A (p.Phe1116Tyr)
n.3925T>A
n.3927T>A
c.3695T>A (p.Phe1232Tyr)
c.3464T>A (p.Phe1155Tyr)
n.3710T>A
11g.77189445T>CCA381947034MYO7Ac.3605T>C (p.Phe1202Ser)
c.1446T>C
c.3572T>C (p.Phe1191Ser)
c.1148T>C (p.Phe383Ser)
n.132T>C
n.1148T>C
c.3515T>C (p.Phe1172Ser)
c.3386T>C (p.Phe1129Ser)
c.3374T>C (p.Phe1125Ser)
c.3347T>C (p.Phe1116Ser)
n.3925T>C
n.3927T>C
c.3695T>C (p.Phe1232Ser)
c.3464T>C (p.Phe1155Ser)
n.3710T>C
11g.77189445T>GCA381947035MYO7Ac.3605T>G (p.Phe1202Cys)
c.1446T>G
c.3572T>G (p.Phe1191Cys)
c.1148T>G (p.Phe383Cys)
n.132T>G
n.1148T>G
c.3515T>G (p.Phe1172Cys)
c.3386T>G (p.Phe1129Cys)
c.3374T>G (p.Phe1125Cys)
c.3347T>G (p.Phe1116Cys)
n.3925T>G
n.3927T>G
c.3695T>G (p.Phe1232Cys)
c.3464T>G (p.Phe1155Cys)
n.3710T>G
11g.77189446C>ACA381947036MYO7Ac.3606C>A (p.Phe1202Leu)
c.1447C>A
c.3573C>A (p.Phe1191Leu)
c.1149C>A (p.Phe383Leu)
n.133C>A
n.1149C>A
c.3516C>A (p.Phe1172Leu)
c.3387C>A (p.Phe1129Leu)
c.3375C>A (p.Phe1125Leu)
c.3348C>A (p.Phe1116Leu)
n.3926C>A
n.3928C>A
c.3696C>A (p.Phe1232Leu)
c.3465C>A (p.Phe1155Leu)
n.3711C>A
11g.77189446C=CA1984122530MYO7Ac.3606C= (p.Phe1202=)
c.1447C=
c.3573C= (p.Phe1191=)
c.1149C= (p.Phe383=)
n.133C=
n.1149C=
c.3516C= (p.Phe1172=)
c.3387C= (p.Phe1129=)
c.3375C= (p.Phe1125=)
c.3348C= (p.Phe1116=)
n.3926C=
n.3928C=
c.3696C= (p.Phe1232=)
c.3465C= (p.Phe1155=)
n.3711C=
11g.77189446C>GCA224843694MYO7Ac.3606C>G (p.Phe1202Leu)
c.1447C>G
c.3573C>G (p.Phe1191Leu)
c.1149C>G (p.Phe383Leu)
n.133C>G
n.1149C>G
c.3516C>G (p.Phe1172Leu)
c.3387C>G (p.Phe1129Leu)
c.3375C>G (p.Phe1125Leu)
c.3348C>G (p.Phe1116Leu)
n.3926C>G
n.3928C>G
c.3696C>G (p.Phe1232Leu)
c.3465C>G (p.Phe1155Leu)
n.3711C>G
 dbSNP
11g.77189446C>TCA475795972MYO7Ac.3606C>T (p.Phe1202=)
c.1447C>T
c.3573C>T (p.Phe1191=)
c.1149C>T (p.Phe383=)
n.133C>T
n.1149C>T
c.3516C>T (p.Phe1172=)
c.3387C>T (p.Phe1129=)
c.3375C>T (p.Phe1125=)
c.3348C>T (p.Phe1116=)
n.3926C>T
n.3928C>T
c.3696C>T (p.Phe1232=)
c.3465C>T (p.Phe1155=)
n.3711C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77189447G>ACA6198125MYO7Ac.3607G>A (p.Ala1203Thr)
c.1448G>A
c.3574G>A (p.Ala1192Thr)
c.1150G>A (p.Ala384Thr)
n.134G>A
n.1150G>A
c.3517G>A (p.Ala1173Thr)
c.3388G>A (p.Ala1130Thr)
c.3376G>A (p.Ala1126Thr)
c.3349G>A (p.Ala1117Thr)
n.3927G>A
n.3929G>A
c.3697G>A (p.Ala1233Thr)
c.3466G>A (p.Ala1156Thr)
n.3712G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77189447G>CCA381947037MYO7Ac.3607G>C (p.Ala1203Pro)
c.1448G>C
c.3574G>C (p.Ala1192Pro)
c.1150G>C (p.Ala384Pro)
n.134G>C
n.1150G>C
c.3517G>C (p.Ala1173Pro)
c.3388G>C (p.Ala1130Pro)
c.3376G>C (p.Ala1126Pro)
c.3349G>C (p.Ala1117Pro)
n.3927G>C
n.3929G>C
c.3697G>C (p.Ala1233Pro)
c.3466G>C (p.Ala1156Pro)
n.3712G>C
 dbSNP gnomAD v2 gnomAD v4
11g.77189447G=CA1984122533MYO7Ac.3607G= (p.Ala1203=)
c.1448G=
c.3574G= (p.Ala1192=)
c.1150G= (p.Ala384=)
n.134G=
n.1150G=
c.3517G= (p.Ala1173=)
c.3388G= (p.Ala1130=)
c.3376G= (p.Ala1126=)
c.3349G= (p.Ala1117=)
n.3927G=
n.3929G=
c.3697G= (p.Ala1233=)
c.3466G= (p.Ala1156=)
n.3712G=
11g.77189447G>TCA6198124MYO7Ac.3607G>T (p.Ala1203Ser)
c.1448G>T
c.3574G>T (p.Ala1192Ser)
c.1150G>T (p.Ala384Ser)
n.134G>T
n.1150G>T
c.3517G>T (p.Ala1173Ser)
c.3388G>T (p.Ala1130Ser)
c.3376G>T (p.Ala1126Ser)
c.3349G>T (p.Ala1117Ser)
n.3927G>T
n.3929G>T
c.3697G>T (p.Ala1233Ser)
c.3466G>T (p.Ala1156Ser)
n.3712G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.77189448C>ACA381947038MYO7Ac.3608C>A (p.Ala1203Asp)
c.1449C>A
c.3575C>A (p.Ala1192Asp)
c.1151C>A (p.Ala384Asp)
n.135C>A
n.1151C>A
c.3518C>A (p.Ala1173Asp)
c.3389C>A (p.Ala1130Asp)
c.3377C>A (p.Ala1126Asp)
c.3350C>A (p.Ala1117Asp)
n.3928C>A
n.3930C>A
c.3698C>A (p.Ala1233Asp)
c.3467C>A (p.Ala1156Asp)
n.3713C>A
11g.77189448C>GCA381947039MYO7Ac.3608C>G (p.Ala1203Gly)
c.1449C>G
c.3575C>G (p.Ala1192Gly)
c.1151C>G (p.Ala384Gly)
n.135C>G
n.1151C>G
c.3518C>G (p.Ala1173Gly)
c.3389C>G (p.Ala1130Gly)
c.3377C>G (p.Ala1126Gly)
c.3350C>G (p.Ala1117Gly)
n.3928C>G
n.3930C>G
c.3698C>G (p.Ala1233Gly)
c.3467C>G (p.Ala1156Gly)
n.3713C>G
11g.77189448C>TCA381947040MYO7Ac.3608C>T (p.Ala1203Val)
c.1449C>T
c.3575C>T (p.Ala1192Val)
c.1151C>T (p.Ala384Val)
n.135C>T
n.1151C>T
c.3518C>T (p.Ala1173Val)
c.3389C>T (p.Ala1130Val)
c.3377C>T (p.Ala1126Val)
c.3350C>T (p.Ala1117Val)
n.3928C>T
n.3930C>T
c.3698C>T (p.Ala1233Val)
c.3467C>T (p.Ala1156Val)
n.3713C>T
11g.77189452dupCA2792787224MYO7Ac.3612dup (p.Ser1205LeufsTer24)
c.1453dup
c.3579dup (p.Ser1194LeufsTer24)
c.1155dup (p.Ser386LeufsTer24)
n.139dup
n.1155dup
c.3522dup (p.Ser1175LeufsTer24)
c.3393dup (p.Ser1132LeufsTer24)
c.3381dup (p.Ser1128LeufsTer24)
c.3354dup (p.Ser1119LeufsTer24)
n.3932dup
n.3934dup
c.3702dup (p.Ser1235LeufsTer24)
c.3471dup (p.Ser1158LeufsTer24)
n.3717dup
11g.77189452delCA2695214999MYO7Ac.3612del (p.Ser1205ProfsTer27)
c.1453del
c.3579del (p.Ser1194ProfsTer27)
c.1155del (p.Ser386ProfsTer27)
n.139del
n.1155del
c.3522del (p.Ser1175ProfsTer27)
c.3393del (p.Ser1132ProfsTer27)
c.3381del (p.Ser1128ProfsTer27)
c.3354del (p.Ser1119ProfsTer27)
n.3932del
n.3934del
c.3702del (p.Ser1235ProfsTer27)
c.3471del (p.Ser1158ProfsTer27)
n.3717del
 ClinVar
11g.77189449C>ACA475795975MYO7Ac.3609C>A (p.Ala1203=)
c.1450C>A
c.3576C>A (p.Ala1192=)
c.1152C>A (p.Ala384=)
n.136C>A
n.1152C>A
c.3519C>A (p.Ala1173=)
c.3390C>A (p.Ala1130=)
c.3378C>A (p.Ala1126=)
c.3351C>A (p.Ala1117=)
n.3929C>A
n.3931C>A
c.3699C>A (p.Ala1233=)
c.3468C>A (p.Ala1156=)
n.3714C>A
 dbSNP
11g.77189449C=CA1984122535MYO7Ac.3609C= (p.Ala1203=)
c.1450C=
c.3576C= (p.Ala1192=)
c.1152C= (p.Ala384=)
n.136C=
n.1152C=
c.3519C= (p.Ala1173=)
c.3390C= (p.Ala1130=)
c.3378C= (p.Ala1126=)
c.3351C= (p.Ala1117=)
n.3929C=
n.3931C=
c.3699C= (p.Ala1233=)
c.3468C= (p.Ala1156=)
n.3714C=
11g.77189449C>GCA475795974MYO7Ac.3609C>G (p.Ala1203=)
c.1450C>G
c.3576C>G (p.Ala1192=)
c.1152C>G (p.Ala384=)
n.136C>G
n.1152C>G
c.3519C>G (p.Ala1173=)
c.3390C>G (p.Ala1130=)
c.3378C>G (p.Ala1126=)
c.3351C>G (p.Ala1117=)
n.3929C>G
n.3931C>G
c.3699C>G (p.Ala1233=)
c.3468C>G (p.Ala1156=)
n.3714C>G
 COSMIC
11g.77189449C>TCA475795973MYO7Ac.3609C>T (p.Ala1203=)
c.1450C>T
c.3576C>T (p.Ala1192=)
c.1152C>T (p.Ala384=)
n.136C>T
n.1152C>T
c.3519C>T (p.Ala1173=)
c.3390C>T (p.Ala1130=)
c.3378C>T (p.Ala1126=)
c.3351C>T (p.Ala1117=)
n.3929C>T
n.3931C>T
c.3699C>T (p.Ala1233=)
c.3468C>T (p.Ala1156=)
n.3714C>T
 dbSNP gnomAD v3 gnomAD v4
11g.77189450C>ACA381947041MYO7Ac.3610C>A (p.Pro1204Thr)
c.1451C>A
c.3577C>A (p.Pro1193Thr)
c.1153C>A (p.Pro385Thr)
n.137C>A
n.1153C>A
c.3520C>A (p.Pro1174Thr)
c.3391C>A (p.Pro1131Thr)
c.3379C>A (p.Pro1127Thr)
c.3352C>A (p.Pro1118Thr)
n.3930C>A
n.3932C>A
c.3700C>A (p.Pro1234Thr)
c.3469C>A (p.Pro1157Thr)
n.3715C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77189450C=CA1984122538MYO7Ac.3610C= (p.Pro1204=)
c.1451C=
c.3577C= (p.Pro1193=)
c.1153C= (p.Pro385=)
n.137C=
n.1153C=
c.3520C= (p.Pro1174=)
c.3391C= (p.Pro1131=)
c.3379C= (p.Pro1127=)
c.3352C= (p.Pro1118=)
n.3930C=
n.3932C=
c.3700C= (p.Pro1234=)
c.3469C= (p.Pro1157=)
n.3715C=
11g.77189450C>GCA381947042MYO7Ac.3610C>G (p.Pro1204Ala)
c.1451C>G
c.3577C>G (p.Pro1193Ala)
c.1153C>G (p.Pro385Ala)
n.137C>G
n.1153C>G
c.3520C>G (p.Pro1174Ala)
c.3391C>G (p.Pro1131Ala)
c.3379C>G (p.Pro1127Ala)
c.3352C>G (p.Pro1118Ala)
n.3930C>G
n.3932C>G
c.3700C>G (p.Pro1234Ala)
c.3469C>G (p.Pro1157Ala)
n.3715C>G
 gnomAD v4
11g.77189450C>TCA381947043MYO7Ac.3610C>T (p.Pro1204Ser)
c.1451C>T
c.3577C>T (p.Pro1193Ser)
c.1153C>T (p.Pro385Ser)
n.137C>T
n.1153C>T
c.3520C>T (p.Pro1174Ser)
c.3391C>T (p.Pro1131Ser)
c.3379C>T (p.Pro1127Ser)
c.3352C>T (p.Pro1118Ser)
n.3930C>T
n.3932C>T
c.3700C>T (p.Pro1234Ser)
c.3469C>T (p.Pro1157Ser)
n.3715C>T
11g.77189452_77189455delCA2580084997MYO7Ac.3612_3615del (p.Ser1205ArgfsTer26)
c.1453_1456del
c.3579_3582del (p.Ser1194ArgfsTer26)
c.1155_1158del (p.Ser386ArgfsTer26)
n.139_142del
n.1155_1158del
c.3522_3525del (p.Ser1175ArgfsTer26)
c.3393_3396del (p.Ser1132ArgfsTer26)
c.3381_3384del (p.Ser1128ArgfsTer26)
c.3354_3357del (p.Ser1119ArgfsTer26)
n.3932_3935del
n.3934_3937del
c.3702_3705del (p.Ser1235ArgfsTer26)
c.3471_3474del (p.Ser1158ArgfsTer26)
n.3717_3720del
 ClinVar
11g.77189451C>ACA381947044MYO7Ac.3611C>A (p.Pro1204His)
c.1452C>A
c.3578C>A (p.Pro1193His)
c.1154C>A (p.Pro385His)
n.138C>A
n.1154C>A
c.3521C>A (p.Pro1174His)
c.3392C>A (p.Pro1131His)
c.3380C>A (p.Pro1127His)
c.3353C>A (p.Pro1118His)
n.3931C>A
n.3933C>A
c.3701C>A (p.Pro1234His)
c.3470C>A (p.Pro1157His)
n.3716C>A
11g.77189451C>GCA381947046MYO7Ac.3611C>G (p.Pro1204Arg)
c.1452C>G
c.3578C>G (p.Pro1193Arg)
c.1154C>G (p.Pro385Arg)
n.138C>G
n.1154C>G
c.3521C>G (p.Pro1174Arg)
c.3392C>G (p.Pro1131Arg)
c.3380C>G (p.Pro1127Arg)
c.3353C>G (p.Pro1118Arg)
n.3931C>G
n.3933C>G
c.3701C>G (p.Pro1234Arg)
c.3470C>G (p.Pro1157Arg)
n.3716C>G
11g.77189451C>TCA381947045MYO7Ac.3611C>T (p.Pro1204Leu)
c.1452C>T
c.3578C>T (p.Pro1193Leu)
c.1154C>T (p.Pro385Leu)
n.138C>T
n.1154C>T
c.3521C>T (p.Pro1174Leu)
c.3392C>T (p.Pro1131Leu)
c.3380C>T (p.Pro1127Leu)
c.3353C>T (p.Pro1118Leu)
n.3931C>T
n.3933C>T
c.3701C>T (p.Pro1234Leu)
c.3470C>T (p.Pro1157Leu)
n.3716C>T
11g.77189452C>ACA475795978MYO7Ac.3612C>A (p.Pro1204=)
c.1453C>A
c.3579C>A (p.Pro1193=)
c.1155C>A (p.Pro385=)
n.139C>A
n.1155C>A
c.3522C>A (p.Pro1174=)
c.3393C>A (p.Pro1131=)
c.3381C>A (p.Pro1127=)
c.3354C>A (p.Pro1118=)
n.3932C>A
n.3934C>A
c.3702C>A (p.Pro1234=)
c.3471C>A (p.Pro1157=)
n.3717C>A
 ClinVar dbSNP
11g.77189452C>GCA475795977MYO7Ac.3612C>G (p.Pro1204=)
c.1453C>G
c.3579C>G (p.Pro1193=)
c.1155C>G (p.Pro385=)
n.139C>G
n.1155C>G
c.3522C>G (p.Pro1174=)
c.3393C>G (p.Pro1131=)
c.3381C>G (p.Pro1127=)
c.3354C>G (p.Pro1118=)
n.3932C>G
n.3934C>G
c.3702C>G (p.Pro1234=)
c.3471C>G (p.Pro1157=)
n.3717C>G
11g.77189452C>TCA475795976MYO7Ac.3612C>T (p.Pro1204=)
c.1453C>T
c.3579C>T (p.Pro1193=)
c.1155C>T (p.Pro385=)
n.139C>T
n.1155C>T
c.3522C>T (p.Pro1174=)
c.3393C>T (p.Pro1131=)
c.3381C>T (p.Pro1127=)
c.3354C>T (p.Pro1118=)
n.3932C>T
n.3934C>T
c.3702C>T (p.Pro1234=)
c.3471C>T (p.Pro1157=)
n.3717C>T
 gnomAD v4
11g.77189453T>ACA381947047MYO7Ac.3613T>A (p.Ser1205Thr)
c.1454T>A
c.3580T>A (p.Ser1194Thr)
c.1156T>A (p.Ser386Thr)
n.140T>A
n.1156T>A
c.3523T>A (p.Ser1175Thr)
c.3394T>A (p.Ser1132Thr)
c.3382T>A (p.Ser1128Thr)
c.3355T>A (p.Ser1119Thr)
n.3933T>A
n.3935T>A
c.3703T>A (p.Ser1235Thr)
c.3472T>A (p.Ser1158Thr)
n.3718T>A
11g.77189453T>CCA381947048MYO7Ac.3613T>C (p.Ser1205Pro)
c.1454T>C
c.3580T>C (p.Ser1194Pro)
c.1156T>C (p.Ser386Pro)
n.140T>C
n.1156T>C
c.3523T>C (p.Ser1175Pro)
c.3394T>C (p.Ser1132Pro)
c.3382T>C (p.Ser1128Pro)
c.3355T>C (p.Ser1119Pro)
n.3933T>C
n.3935T>C
c.3703T>C (p.Ser1235Pro)
c.3472T>C (p.Ser1158Pro)
n.3718T>C
 gnomAD v4
11g.77189453T>GCA381947049MYO7Ac.3613T>G (p.Ser1205Ala)
c.1454T>G
c.3580T>G (p.Ser1194Ala)
c.1156T>G (p.Ser386Ala)
n.140T>G
n.1156T>G
c.3523T>G (p.Ser1175Ala)
c.3394T>G (p.Ser1132Ala)
c.3382T>G (p.Ser1128Ala)
c.3355T>G (p.Ser1119Ala)
n.3933T>G
n.3935T>G
c.3703T>G (p.Ser1235Ala)
c.3472T>G (p.Ser1158Ala)
n.3718T>G
11g.77189454C>ACA381947050MYO7Ac.3614C>A (p.Ser1205Tyr)
c.1455C>A
c.3581C>A (p.Ser1194Tyr)
c.1157C>A (p.Ser386Tyr)
n.141C>A
n.1157C>A
c.3524C>A (p.Ser1175Tyr)
c.3395C>A (p.Ser1132Tyr)
c.3383C>A (p.Ser1128Tyr)
c.3356C>A (p.Ser1119Tyr)
n.3934C>A
n.3936C>A
c.3704C>A (p.Ser1235Tyr)
c.3473C>A (p.Ser1158Tyr)
n.3719C>A
11g.77189454C>GCA381947051MYO7Ac.3614C>G (p.Ser1205Cys)
c.1455C>G
c.3581C>G (p.Ser1194Cys)
c.1157C>G (p.Ser386Cys)
n.141C>G
n.1157C>G
c.3524C>G (p.Ser1175Cys)
c.3395C>G (p.Ser1132Cys)
c.3383C>G (p.Ser1128Cys)
c.3356C>G (p.Ser1119Cys)
n.3934C>G
n.3936C>G
c.3704C>G (p.Ser1235Cys)
c.3473C>G (p.Ser1158Cys)
n.3719C>G
11g.77189454C>TCA381947052MYO7Ac.3614C>T (p.Ser1205Phe)
c.1455C>T
c.3581C>T (p.Ser1194Phe)
c.1157C>T (p.Ser386Phe)
n.141C>T
n.1157C>T
c.3524C>T (p.Ser1175Phe)
c.3395C>T (p.Ser1132Phe)
c.3383C>T (p.Ser1128Phe)
c.3356C>T (p.Ser1119Phe)
n.3934C>T
n.3936C>T
c.3704C>T (p.Ser1235Phe)
c.3473C>T (p.Ser1158Phe)
n.3719C>T
11g.77189455C>ACA475795979MYO7Ac.3615C>A (p.Ser1205=)
c.1456C>A
c.3582C>A (p.Ser1194=)
c.1158C>A (p.Ser386=)
n.142C>A
n.1158C>A
c.3525C>A (p.Ser1175=)
c.3396C>A (p.Ser1132=)
c.3384C>A (p.Ser1128=)
c.3357C>A (p.Ser1119=)
n.3935C>A
n.3937C>A
c.3705C>A (p.Ser1235=)
c.3474C>A (p.Ser1158=)
n.3720C>A
11g.77189455C=CA1984122540MYO7Ac.3615C= (p.Ser1205=)
c.1456C=
c.3582C= (p.Ser1194=)
c.1158C= (p.Ser386=)
n.142C=
n.1158C=
c.3525C= (p.Ser1175=)
c.3396C= (p.Ser1132=)
c.3384C= (p.Ser1128=)
c.3357C= (p.Ser1119=)
n.3935C=
n.3937C=
c.3705C= (p.Ser1235=)
c.3474C= (p.Ser1158=)
n.3720C=
11g.77189455C>GCA6198126MYO7Ac.3615C>G (p.Ser1205=)
c.1456C>G
c.3582C>G (p.Ser1194=)
c.1158C>G (p.Ser386=)
n.142C>G
n.1158C>G
c.3525C>G (p.Ser1175=)
c.3396C>G (p.Ser1132=)
c.3384C>G (p.Ser1128=)
c.3357C>G (p.Ser1119=)
n.3935C>G
n.3937C>G
c.3705C>G (p.Ser1235=)
c.3474C>G (p.Ser1158=)
n.3720C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77189455C>TCA6198127MYO7Ac.3615C>T (p.Ser1205=)
c.1456C>T
c.3582C>T (p.Ser1194=)
c.1158C>T (p.Ser386=)
n.142C>T
n.1158C>T
c.3525C>T (p.Ser1175=)
c.3396C>T (p.Ser1132=)
c.3384C>T (p.Ser1128=)
c.3357C>T (p.Ser1119=)
n.3935C>T
n.3937C>T
c.3705C>T (p.Ser1235=)
c.3474C>T (p.Ser1158=)
n.3720C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77189456G>ACA6198128MYO7Ac.3616G>A (p.Glu1206Lys)
c.1457G>A
c.3583G>A (p.Glu1195Lys)
c.1159G>A (p.Glu387Lys)
n.143G>A
n.1159G>A
c.3526G>A (p.Glu1176Lys)
c.3397G>A (p.Glu1133Lys)
c.3385G>A (p.Glu1129Lys)
c.3358G>A (p.Glu1120Lys)
n.3936G>A
n.3938G>A
c.3706G>A (p.Glu1236Lys)
c.3475G>A (p.Glu1159Lys)
n.3721G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77189456G>CCA381947053MYO7Ac.3616G>C (p.Glu1206Gln)
c.1457G>C
c.3583G>C (p.Glu1195Gln)
c.1159G>C (p.Glu387Gln)
n.143G>C
n.1159G>C
c.3526G>C (p.Glu1176Gln)
c.3397G>C (p.Glu1133Gln)
c.3385G>C (p.Glu1129Gln)
c.3358G>C (p.Glu1120Gln)
n.3936G>C
n.3938G>C
c.3706G>C (p.Glu1236Gln)
c.3475G>C (p.Glu1159Gln)
n.3721G>C
11g.77189456G=CA1984122543MYO7Ac.3616G= (p.Glu1206=)
c.1457G=
c.3583G= (p.Glu1195=)
c.1159G= (p.Glu387=)
n.143G=
n.1159G=
c.3526G= (p.Glu1176=)
c.3397G= (p.Glu1133=)
c.3385G= (p.Glu1129=)
c.3358G= (p.Glu1120=)
n.3936G=
n.3938G=
c.3706G= (p.Glu1236=)
c.3475G= (p.Glu1159=)
n.3721G=
11g.77189456G>TCA381947054MYO7Ac.3616G>T (p.Glu1206Ter)
c.1457G>T
c.3583G>T (p.Glu1195Ter)
c.1159G>T (p.Glu387Ter)
n.143G>T
n.1159G>T
c.3526G>T (p.Glu1176Ter)
c.3397G>T (p.Glu1133Ter)
c.3385G>T (p.Glu1129Ter)
c.3358G>T (p.Glu1120Ter)
n.3936G>T
n.3938G>T
c.3706G>T (p.Glu1236Ter)
c.3475G>T (p.Glu1159Ter)
n.3721G>T
 gnomAD v4
11g.77189457A>CCA381947056MYO7Ac.3617A>C (p.Glu1206Ala)
c.1458A>C
c.3584A>C (p.Glu1195Ala)
c.1160A>C (p.Glu387Ala)
n.144A>C
n.1160A>C
c.3527A>C (p.Glu1176Ala)
c.3398A>C (p.Glu1133Ala)
c.3386A>C (p.Glu1129Ala)
c.3359A>C (p.Glu1120Ala)
n.3937A>C
n.3939A>C
c.3707A>C (p.Glu1236Ala)
c.3476A>C (p.Glu1159Ala)
n.3722A>C
11g.77189457A>GCA381947057MYO7Ac.3617A>G (p.Glu1206Gly)
c.1458A>G
c.3584A>G (p.Glu1195Gly)
c.1160A>G (p.Glu387Gly)
n.144A>G
n.1160A>G
c.3527A>G (p.Glu1176Gly)
c.3398A>G (p.Glu1133Gly)
c.3386A>G (p.Glu1129Gly)
c.3359A>G (p.Glu1120Gly)
n.3937A>G
n.3939A>G
c.3707A>G (p.Glu1236Gly)
c.3476A>G (p.Glu1159Gly)
n.3722A>G
11g.77189457A>TCA381947055MYO7Ac.3617A>T (p.Glu1206Val)
c.1458A>T
c.3584A>T (p.Glu1195Val)
c.1160A>T (p.Glu387Val)
n.144A>T
n.1160A>T
c.3527A>T (p.Glu1176Val)
c.3398A>T (p.Glu1133Val)
c.3386A>T (p.Glu1129Val)
c.3359A>T (p.Glu1120Val)
n.3937A>T
n.3939A>T
c.3707A>T (p.Glu1236Val)
c.3476A>T (p.Glu1159Val)
n.3722A>T
11g.77189458G>ACA475795980MYO7Ac.3618G>A (p.Glu1206=)
c.1459G>A
c.3585G>A (p.Glu1195=)
c.1161G>A (p.Glu387=)
n.145G>A
n.1161G>A
c.3528G>A (p.Glu1176=)
c.3399G>A (p.Glu1133=)
c.3387G>A (p.Glu1129=)
c.3360G>A (p.Glu1120=)
n.3938G>A
n.3940G>A
c.3708G>A (p.Glu1236=)
c.3477G>A (p.Glu1159=)
n.3723G>A
11g.77189458G>CCA381947059MYO7Ac.3618G>C (p.Glu1206Asp)
c.1459G>C
c.3585G>C (p.Glu1195Asp)
c.1161G>C (p.Glu387Asp)
n.145G>C
n.1161G>C
c.3528G>C (p.Glu1176Asp)
c.3399G>C (p.Glu1133Asp)
c.3387G>C (p.Glu1129Asp)
c.3360G>C (p.Glu1120Asp)
n.3938G>C
n.3940G>C
c.3708G>C (p.Glu1236Asp)
c.3477G>C (p.Glu1159Asp)
n.3723G>C
11g.77189458G>TCA381947058MYO7Ac.3618G>T (p.Glu1206Asp)
c.1459G>T
c.3585G>T (p.Glu1195Asp)
c.1161G>T (p.Glu387Asp)
n.145G>T
n.1161G>T
c.3528G>T (p.Glu1176Asp)
c.3399G>T (p.Glu1133Asp)
c.3387G>T (p.Glu1129Asp)
c.3360G>T (p.Glu1120Asp)
n.3938G>T
n.3940G>T
c.3708G>T (p.Glu1236Asp)
c.3477G>T (p.Glu1159Asp)
n.3723G>T

Number of alleles fetched