Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71730515C>A | CA377154415 | C10orf105,CDH23 | c.3626C>A (p.Thr1209Lys) c.3623C>A (p.Thr1208Lys) c.3641C>A (p.Thr1214Lys) c.-6+7213G>T (n.-6+7213G>T) n.318C>A c.3821C>A (p.Thr1274Lys) c.3755C>A (p.Thr1252Lys) c.3815C>A (p.Thr1272Lys) c.3761C>A (p.Thr1254Lys) c.3686C>A (p.Thr1229Lys) c.3281C>A (p.Thr1094Lys) c.2639C>A (p.Thr880Lys) c.149C>A (p.Thr50Lys) n.4064C>A | dbSNP |
10 | g.71730515C= | CA1918848909 | C10orf105,CDH23 | c.3626C= (p.Thr1209=) c.3623C= (p.Thr1208=) c.3641C= (p.Thr1214=) c.-6+7213G= (n.-6+7213G=) n.318C= c.3821C= (p.Thr1274=) c.3755C= (p.Thr1252=) c.3815C= (p.Thr1272=) c.3761C= (p.Thr1254=) c.3686C= (p.Thr1229=) c.3281C= (p.Thr1094=) c.2639C= (p.Thr880=) c.149C= (p.Thr50=) n.4064C= | |
10 | g.71730515C>G | CA377154417 | C10orf105,CDH23 | c.3626C>G (p.Thr1209Arg) c.3623C>G (p.Thr1208Arg) c.3641C>G (p.Thr1214Arg) c.-6+7213G>C (n.-6+7213G>C) n.318C>G c.3821C>G (p.Thr1274Arg) c.3755C>G (p.Thr1252Arg) c.3815C>G (p.Thr1272Arg) c.3761C>G (p.Thr1254Arg) c.3686C>G (p.Thr1229Arg) c.3281C>G (p.Thr1094Arg) c.2639C>G (p.Thr880Arg) c.149C>G (p.Thr50Arg) n.4064C>G | dbSNP gnomAD v4 |
10 | g.71730515C>T | CA377154418 | C10orf105,CDH23 | c.3626C>T (p.Thr1209Ile) c.3623C>T (p.Thr1208Ile) c.3641C>T (p.Thr1214Ile) c.-6+7213G>A (n.-6+7213G>A) n.318C>T c.3821C>T (p.Thr1274Ile) c.3755C>T (p.Thr1252Ile) c.3815C>T (p.Thr1272Ile) c.3761C>T (p.Thr1254Ile) c.3686C>T (p.Thr1229Ile) c.3281C>T (p.Thr1094Ile) c.2639C>T (p.Thr880Ile) c.149C>T (p.Thr50Ile) n.4064C>T | |
10 | g.71730516A>C | CA470066572 | C10orf105,CDH23 | c.3627A>C (p.Thr1209=) c.3624A>C (p.Thr1208=) c.3642A>C (p.Thr1214=) c.-6+7212T>G (n.-6+7212T>G) n.319A>C c.3822A>C (p.Thr1274=) c.3756A>C (p.Thr1252=) c.3816A>C (p.Thr1272=) c.3762A>C (p.Thr1254=) c.3687A>C (p.Thr1229=) c.3282A>C (p.Thr1094=) c.2640A>C (p.Thr880=) c.150A>C (p.Thr50=) n.4065A>C | |
10 | g.71730516A>G | CA470066575 | C10orf105,CDH23 | c.3627A>G (p.Thr1209=) c.3624A>G (p.Thr1208=) c.3642A>G (p.Thr1214=) c.-6+7212T>C (n.-6+7212T>C) n.319A>G c.3822A>G (p.Thr1274=) c.3756A>G (p.Thr1252=) c.3816A>G (p.Thr1272=) c.3762A>G (p.Thr1254=) c.3687A>G (p.Thr1229=) c.3282A>G (p.Thr1094=) c.2640A>G (p.Thr880=) c.150A>G (p.Thr50=) n.4065A>G | |
10 | g.71730516A>T | CA470066574 | C10orf105,CDH23 | c.3627A>T (p.Thr1209=) c.3624A>T (p.Thr1208=) c.3642A>T (p.Thr1214=) c.-6+7212T>A (n.-6+7212T>A) n.319A>T c.3822A>T (p.Thr1274=) c.3756A>T (p.Thr1252=) c.3816A>T (p.Thr1272=) c.3762A>T (p.Thr1254=) c.3687A>T (p.Thr1229=) c.3282A>T (p.Thr1094=) c.2640A>T (p.Thr880=) c.150A>T (p.Thr50=) n.4065A>T | |
10 | g.71730517C>A | CA377154420 | C10orf105,CDH23 | c.3628C>A (p.Gln1210Lys) c.3625C>A (p.Gln1209Lys) c.3643C>A (p.Gln1215Lys) c.-6+7211G>T (n.-6+7211G>T) n.320C>A c.3823C>A (p.Gln1275Lys) c.3757C>A (p.Gln1253Lys) c.3817C>A (p.Gln1273Lys) c.3763C>A (p.Gln1255Lys) c.3688C>A (p.Gln1230Lys) c.3283C>A (p.Gln1095Lys) c.2641C>A (p.Gln881Lys) c.151C>A (p.Gln51Lys) n.4066C>A | |
10 | g.71730517C= | CA1918848910 | C10orf105,CDH23 | c.3628C= (p.Gln1210=) c.3625C= (p.Gln1209=) c.3643C= (p.Gln1215=) c.-6+7211G= (n.-6+7211G=) n.320C= c.3823C= (p.Gln1275=) c.3757C= (p.Gln1253=) c.3817C= (p.Gln1273=) c.3763C= (p.Gln1255=) c.3688C= (p.Gln1230=) c.3283C= (p.Gln1095=) c.2641C= (p.Gln881=) c.151C= (p.Gln51=) n.4066C= | |
10 | g.71730517C>G | CA377154426 | C10orf105,CDH23 | c.3628C>G (p.Gln1210Glu) c.3625C>G (p.Gln1209Glu) c.3643C>G (p.Gln1215Glu) c.-6+7211G>C (n.-6+7211G>C) n.320C>G c.3823C>G (p.Gln1275Glu) c.3757C>G (p.Gln1253Glu) c.3817C>G (p.Gln1273Glu) c.3763C>G (p.Gln1255Glu) c.3688C>G (p.Gln1230Glu) c.3283C>G (p.Gln1095Glu) c.2641C>G (p.Gln881Glu) c.151C>G (p.Gln51Glu) n.4066C>G | |
10 | g.71730517C>T | CA261778 | C10orf105,CDH23 | c.3628C>T (p.Gln1210Ter) c.3625C>T (p.Gln1209Ter) c.3643C>T (p.Gln1215Ter) c.-6+7211G>A (n.-6+7211G>A) n.320C>T c.3823C>T (p.Gln1275Ter) c.3757C>T (p.Gln1253Ter) c.3817C>T (p.Gln1273Ter) c.3763C>T (p.Gln1255Ter) c.3688C>T (p.Gln1230Ter) c.3283C>T (p.Gln1095Ter) c.2641C>T (p.Gln881Ter) c.151C>T (p.Gln51Ter) n.4066C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71730518A>C | CA377154442 | C10orf105,CDH23 | c.3629A>C (p.Gln1210Pro) c.3626A>C (p.Gln1209Pro) c.3644A>C (p.Gln1215Pro) c.-6+7210T>G (n.-6+7210T>G) n.321A>C c.3824A>C (p.Gln1275Pro) c.3758A>C (p.Gln1253Pro) c.3818A>C (p.Gln1273Pro) c.3764A>C (p.Gln1255Pro) c.3689A>C (p.Gln1230Pro) c.3284A>C (p.Gln1095Pro) c.2642A>C (p.Gln881Pro) c.152A>C (p.Gln51Pro) n.4067A>C | |
10 | g.71730518A>G | CA377154439 | C10orf105,CDH23 | c.3629A>G (p.Gln1210Arg) c.3626A>G (p.Gln1209Arg) c.3644A>G (p.Gln1215Arg) c.-6+7210T>C (n.-6+7210T>C) n.321A>G c.3824A>G (p.Gln1275Arg) c.3758A>G (p.Gln1253Arg) c.3818A>G (p.Gln1273Arg) c.3764A>G (p.Gln1255Arg) c.3689A>G (p.Gln1230Arg) c.3284A>G (p.Gln1095Arg) c.2642A>G (p.Gln881Arg) c.152A>G (p.Gln51Arg) n.4067A>G | |
10 | g.71730518A>T | CA377154438 | C10orf105,CDH23 | c.3629A>T (p.Gln1210Leu) c.3626A>T (p.Gln1209Leu) c.3644A>T (p.Gln1215Leu) c.-6+7210T>A (n.-6+7210T>A) n.321A>T c.3824A>T (p.Gln1275Leu) c.3758A>T (p.Gln1253Leu) c.3818A>T (p.Gln1273Leu) c.3764A>T (p.Gln1255Leu) c.3689A>T (p.Gln1230Leu) c.3284A>T (p.Gln1095Leu) c.2642A>T (p.Gln881Leu) c.152A>T (p.Gln51Leu) n.4067A>T | |
10 | g.71730519G>A | CA470066584 | C10orf105,CDH23 | c.3630G>A (p.Gln1210=) c.3627G>A (p.Gln1209=) c.3645G>A (p.Gln1215=) c.-6+7209C>T (n.-6+7209C>T) n.322G>A c.3825G>A (p.Gln1275=) c.3759G>A (p.Gln1253=) c.3819G>A (p.Gln1273=) c.3765G>A (p.Gln1255=) c.3690G>A (p.Gln1230=) c.3285G>A (p.Gln1095=) c.2643G>A (p.Gln881=) c.153G>A (p.Gln51=) n.4068G>A | |
10 | g.71730519G>C | CA377154445 | C10orf105,CDH23 | c.3630G>C (p.Gln1210His) c.3627G>C (p.Gln1209His) c.3645G>C (p.Gln1215His) c.-6+7209C>G (n.-6+7209C>G) n.322G>C c.3825G>C (p.Gln1275His) c.3759G>C (p.Gln1253His) c.3819G>C (p.Gln1273His) c.3765G>C (p.Gln1255His) c.3690G>C (p.Gln1230His) c.3285G>C (p.Gln1095His) c.2643G>C (p.Gln881His) c.153G>C (p.Gln51His) n.4068G>C | |
10 | g.71730519G>T | CA377154446 | C10orf105,CDH23 | c.3630G>T (p.Gln1210His) c.3627G>T (p.Gln1209His) c.3645G>T (p.Gln1215His) c.-6+7209C>A (n.-6+7209C>A) n.322G>T c.3825G>T (p.Gln1275His) c.3759G>T (p.Gln1253His) c.3819G>T (p.Gln1273His) c.3765G>T (p.Gln1255His) c.3690G>T (p.Gln1230His) c.3285G>T (p.Gln1095His) c.2643G>T (p.Gln881His) c.153G>T (p.Gln51His) n.4068G>T | |
10 | g.71730520C>A | CA377154448 | C10orf105,CDH23 | c.3631C>A (p.Gln1211Lys) c.3628C>A (p.Gln1210Lys) c.3646C>A (p.Gln1216Lys) c.-6+7208G>T (n.-6+7208G>T) n.323C>A c.3826C>A (p.Gln1276Lys) c.3760C>A (p.Gln1254Lys) c.3820C>A (p.Gln1274Lys) c.3766C>A (p.Gln1256Lys) c.3691C>A (p.Gln1231Lys) c.3286C>A (p.Gln1096Lys) c.2644C>A (p.Gln882Lys) c.154C>A (p.Gln52Lys) n.4069C>A | |
10 | g.71730520C>G | CA377154450 | C10orf105,CDH23 | c.3631C>G (p.Gln1211Glu) c.3628C>G (p.Gln1210Glu) c.3646C>G (p.Gln1216Glu) c.-6+7208G>C (n.-6+7208G>C) n.323C>G c.3826C>G (p.Gln1276Glu) c.3760C>G (p.Gln1254Glu) c.3820C>G (p.Gln1274Glu) c.3766C>G (p.Gln1256Glu) c.3691C>G (p.Gln1231Glu) c.3286C>G (p.Gln1096Glu) c.2644C>G (p.Gln882Glu) c.154C>G (p.Gln52Glu) n.4069C>G | |
10 | g.71730520C>T | CA377154453 | C10orf105,CDH23 | c.3631C>T (p.Gln1211Ter) c.3628C>T (p.Gln1210Ter) c.3646C>T (p.Gln1216Ter) c.-6+7208G>A (n.-6+7208G>A) n.323C>T c.3826C>T (p.Gln1276Ter) c.3760C>T (p.Gln1254Ter) c.3820C>T (p.Gln1274Ter) c.3766C>T (p.Gln1256Ter) c.3691C>T (p.Gln1231Ter) c.3286C>T (p.Gln1096Ter) c.2644C>T (p.Gln882Ter) c.154C>T (p.Gln52Ter) n.4069C>T | dbSNP |
10 | g.71730521A>C | CA377154455 | C10orf105,CDH23 | c.3632A>C (p.Gln1211Pro) c.3629A>C (p.Gln1210Pro) c.3647A>C (p.Gln1216Pro) c.-6+7207T>G (n.-6+7207T>G) n.324A>C c.3827A>C (p.Gln1276Pro) c.3761A>C (p.Gln1254Pro) c.3821A>C (p.Gln1274Pro) c.3767A>C (p.Gln1256Pro) c.3692A>C (p.Gln1231Pro) c.3287A>C (p.Gln1096Pro) c.2645A>C (p.Gln882Pro) c.155A>C (p.Gln52Pro) n.4070A>C | |
10 | g.71730521A>G | CA377154457 | C10orf105,CDH23 | c.3632A>G (p.Gln1211Arg) c.3629A>G (p.Gln1210Arg) c.3647A>G (p.Gln1216Arg) c.-6+7207T>C (n.-6+7207T>C) n.324A>G c.3827A>G (p.Gln1276Arg) c.3761A>G (p.Gln1254Arg) c.3821A>G (p.Gln1274Arg) c.3767A>G (p.Gln1256Arg) c.3692A>G (p.Gln1231Arg) c.3287A>G (p.Gln1096Arg) c.2645A>G (p.Gln882Arg) c.155A>G (p.Gln52Arg) n.4070A>G | |
10 | g.71730521A>T | CA377154462 | C10orf105,CDH23 | c.3632A>T (p.Gln1211Leu) c.3629A>T (p.Gln1210Leu) c.3647A>T (p.Gln1216Leu) c.-6+7207T>A (n.-6+7207T>A) n.324A>T c.3827A>T (p.Gln1276Leu) c.3761A>T (p.Gln1254Leu) c.3821A>T (p.Gln1274Leu) c.3767A>T (p.Gln1256Leu) c.3692A>T (p.Gln1231Leu) c.3287A>T (p.Gln1096Leu) c.2645A>T (p.Gln882Leu) c.155A>T (p.Gln52Leu) n.4070A>T | |
10 | g.71730522G>A | CA470066594 | C10orf105,CDH23 | c.3633G>A (p.Gln1211=) c.3630G>A (p.Gln1210=) c.3648G>A (p.Gln1216=) c.-6+7206C>T (n.-6+7206C>T) n.325G>A c.3828G>A (p.Gln1276=) c.3762G>A (p.Gln1254=) c.3822G>A (p.Gln1274=) c.3768G>A (p.Gln1256=) c.3693G>A (p.Gln1231=) c.3288G>A (p.Gln1096=) c.2646G>A (p.Gln882=) c.156G>A (p.Gln52=) n.4071G>A | ClinVar dbSNP |
10 | g.71730522G>C | CA377154464 | C10orf105,CDH23 | c.3633G>C (p.Gln1211His) c.3630G>C (p.Gln1210His) c.3648G>C (p.Gln1216His) c.-6+7206C>G (n.-6+7206C>G) n.325G>C c.3828G>C (p.Gln1276His) c.3762G>C (p.Gln1254His) c.3822G>C (p.Gln1274His) c.3768G>C (p.Gln1256His) c.3693G>C (p.Gln1231His) c.3288G>C (p.Gln1096His) c.2646G>C (p.Gln882His) c.156G>C (p.Gln52His) n.4071G>C | |
10 | g.71730522G= | CA1918848911 | C10orf105,CDH23 | c.3633G= (p.Gln1211=) c.3630G= (p.Gln1210=) c.3648G= (p.Gln1216=) c.-6+7206C= (n.-6+7206C=) n.325G= c.3828G= (p.Gln1276=) c.3762G= (p.Gln1254=) c.3822G= (p.Gln1274=) c.3768G= (p.Gln1256=) c.3693G= (p.Gln1231=) c.3288G= (p.Gln1096=) c.2646G= (p.Gln882=) c.156G= (p.Gln52=) n.4071G= | |
10 | g.71730522G>T | CA5544792 | C10orf105,CDH23 | c.3633G>T (p.Gln1211His) c.3630G>T (p.Gln1210His) c.3648G>T (p.Gln1216His) c.-6+7206C>A (n.-6+7206C>A) n.325G>T c.3828G>T (p.Gln1276His) c.3762G>T (p.Gln1254His) c.3822G>T (p.Gln1274His) c.3768G>T (p.Gln1256His) c.3693G>T (p.Gln1231His) c.3288G>T (p.Gln1096His) c.2646G>T (p.Gln882His) c.156G>T (p.Gln52His) n.4071G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71730523C>A | CA377154469 | C10orf105,CDH23 | c.3634C>A (p.Gln1212Lys) c.3631C>A (p.Gln1211Lys) c.3649C>A (p.Gln1217Lys) c.-6+7205G>T (n.-6+7205G>T) n.326C>A c.3829C>A (p.Gln1277Lys) c.3763C>A (p.Gln1255Lys) c.3823C>A (p.Gln1275Lys) c.3769C>A (p.Gln1257Lys) c.3694C>A (p.Gln1232Lys) c.3289C>A (p.Gln1097Lys) c.2647C>A (p.Gln883Lys) c.157C>A (p.Gln53Lys) n.4072C>A | |
10 | g.71730523C>G | CA377154472 | C10orf105,CDH23 | c.3634C>G (p.Gln1212Glu) c.3631C>G (p.Gln1211Glu) c.3649C>G (p.Gln1217Glu) c.-6+7205G>C (n.-6+7205G>C) n.326C>G c.3829C>G (p.Gln1277Glu) c.3763C>G (p.Gln1255Glu) c.3823C>G (p.Gln1275Glu) c.3769C>G (p.Gln1257Glu) c.3694C>G (p.Gln1232Glu) c.3289C>G (p.Gln1097Glu) c.2647C>G (p.Gln883Glu) c.157C>G (p.Gln53Glu) n.4072C>G | dbSNP |
10 | g.71730523C>T | CA377154474 | C10orf105,CDH23 | c.3634C>T (p.Gln1212Ter) c.3631C>T (p.Gln1211Ter) c.3649C>T (p.Gln1217Ter) c.-6+7205G>A (n.-6+7205G>A) n.326C>T c.3829C>T (p.Gln1277Ter) c.3763C>T (p.Gln1255Ter) c.3823C>T (p.Gln1275Ter) c.3769C>T (p.Gln1257Ter) c.3694C>T (p.Gln1232Ter) c.3289C>T (p.Gln1097Ter) c.2647C>T (p.Gln883Ter) c.157C>T (p.Gln53Ter) n.4072C>T | ClinVar dbSNP gnomAD v4 |
10 | g.71730523dup | CA2840406722 | C10orf105,CDH23 | c.3634dup (p.Gln1212ProfsTer?) c.3631dup (p.Gln1211ProfsTer?) c.3649dup (p.Gln1217ProfsTer?) c.-6+7205dup (n.-6+7205dup) n.326dup c.3829dup (p.Gln1277ProfsTer?) c.3763dup (p.Gln1255ProfsTer?) c.3823dup (p.Gln1275ProfsTer?) c.3769dup (p.Gln1257ProfsTer?) c.3694dup (p.Gln1232ProfsTer?) c.3289dup (p.Gln1097ProfsTer?) c.2647dup (p.Gln883ProfsTer?) c.157dup (p.Gln53ProfsTer?) n.4072dup | |
10 | g.71730524A>C | CA377154476 | C10orf105,CDH23 | c.3635A>C (p.Gln1212Pro) c.3632A>C (p.Gln1211Pro) c.3650A>C (p.Gln1217Pro) c.-6+7204T>G (n.-6+7204T>G) n.327A>C c.3830A>C (p.Gln1277Pro) c.3764A>C (p.Gln1255Pro) c.3824A>C (p.Gln1275Pro) c.3770A>C (p.Gln1257Pro) c.3695A>C (p.Gln1232Pro) c.3290A>C (p.Gln1097Pro) c.2648A>C (p.Gln883Pro) c.158A>C (p.Gln53Pro) n.4073A>C | |
10 | g.71730524A>G | CA377154479 | C10orf105,CDH23 | c.3635A>G (p.Gln1212Arg) c.3632A>G (p.Gln1211Arg) c.3650A>G (p.Gln1217Arg) c.-6+7204T>C (n.-6+7204T>C) n.327A>G c.3830A>G (p.Gln1277Arg) c.3764A>G (p.Gln1255Arg) c.3824A>G (p.Gln1275Arg) c.3770A>G (p.Gln1257Arg) c.3695A>G (p.Gln1232Arg) c.3290A>G (p.Gln1097Arg) c.2648A>G (p.Gln883Arg) c.158A>G (p.Gln53Arg) n.4073A>G | |
10 | g.71730524A>T | CA377154482 | C10orf105,CDH23 | c.3635A>T (p.Gln1212Leu) c.3632A>T (p.Gln1211Leu) c.3650A>T (p.Gln1217Leu) c.-6+7204T>A (n.-6+7204T>A) n.327A>T c.3830A>T (p.Gln1277Leu) c.3764A>T (p.Gln1255Leu) c.3824A>T (p.Gln1275Leu) c.3770A>T (p.Gln1257Leu) c.3695A>T (p.Gln1232Leu) c.3290A>T (p.Gln1097Leu) c.2648A>T (p.Gln883Leu) c.158A>T (p.Gln53Leu) n.4073A>T | |
10 | g.71730525G>A | CA470066604 | C10orf105,CDH23 | c.3636G>A (p.Gln1212=) c.3633G>A (p.Gln1211=) c.3651G>A (p.Gln1217=) c.-6+7203C>T (n.-6+7203C>T) n.328G>A c.3831G>A (p.Gln1277=) c.3765G>A (p.Gln1255=) c.3825G>A (p.Gln1275=) c.3771G>A (p.Gln1257=) c.3696G>A (p.Gln1232=) c.3291G>A (p.Gln1097=) c.2649G>A (p.Gln883=) c.159G>A (p.Gln53=) n.4074G>A | dbSNP |
10 | g.71730525G>C | CA377154484 | C10orf105,CDH23 | c.3636G>C (p.Gln1212His) c.3633G>C (p.Gln1211His) c.3651G>C (p.Gln1217His) c.-6+7203C>G (n.-6+7203C>G) n.328G>C c.3831G>C (p.Gln1277His) c.3765G>C (p.Gln1255His) c.3825G>C (p.Gln1275His) c.3771G>C (p.Gln1257His) c.3696G>C (p.Gln1232His) c.3291G>C (p.Gln1097His) c.2649G>C (p.Gln883His) c.159G>C (p.Gln53His) n.4074G>C | |
10 | g.71730525G>T | CA377154486 | C10orf105,CDH23 | c.3636G>T (p.Gln1212His) c.3633G>T (p.Gln1211His) c.3651G>T (p.Gln1217His) c.-6+7203C>A (n.-6+7203C>A) n.328G>T c.3831G>T (p.Gln1277His) c.3765G>T (p.Gln1255His) c.3825G>T (p.Gln1275His) c.3771G>T (p.Gln1257His) c.3696G>T (p.Gln1232His) c.3291G>T (p.Gln1097His) c.2649G>T (p.Gln883His) c.159G>T (p.Gln53His) n.4074G>T | |
10 | g.71730526T>A | CA377154488 | C10orf105,CDH23 | c.3637T>A (p.Tyr1213Asn) c.3634T>A (p.Tyr1212Asn) c.3652T>A (p.Tyr1218Asn) c.-6+7202A>T (n.-6+7202A>T) n.329T>A c.3832T>A (p.Tyr1278Asn) c.3766T>A (p.Tyr1256Asn) c.3826T>A (p.Tyr1276Asn) c.3772T>A (p.Tyr1258Asn) c.3697T>A (p.Tyr1233Asn) c.3292T>A (p.Tyr1098Asn) c.2650T>A (p.Tyr884Asn) c.160T>A (p.Tyr54Asn) n.4075T>A | dbSNP |
10 | g.71730526T>C | CA209479811 | C10orf105,CDH23 | c.3637T>C (p.Tyr1213His) c.3634T>C (p.Tyr1212His) c.3652T>C (p.Tyr1218His) c.-6+7202A>G (n.-6+7202A>G) n.329T>C c.3832T>C (p.Tyr1278His) c.3766T>C (p.Tyr1256His) c.3826T>C (p.Tyr1276His) c.3772T>C (p.Tyr1258His) c.3697T>C (p.Tyr1233His) c.3292T>C (p.Tyr1098His) c.2650T>C (p.Tyr884His) c.160T>C (p.Tyr54His) n.4075T>C | dbSNP |
10 | g.71730526T>G | CA377154491 | C10orf105,CDH23 | c.3637T>G (p.Tyr1213Asp) c.3634T>G (p.Tyr1212Asp) c.3652T>G (p.Tyr1218Asp) c.-6+7202A>C (n.-6+7202A>C) n.329T>G c.3832T>G (p.Tyr1278Asp) c.3766T>G (p.Tyr1256Asp) c.3826T>G (p.Tyr1276Asp) c.3772T>G (p.Tyr1258Asp) c.3697T>G (p.Tyr1233Asp) c.3292T>G (p.Tyr1098Asp) c.2650T>G (p.Tyr884Asp) c.160T>G (p.Tyr54Asp) n.4075T>G | |
10 | g.71730526T= | CA1918848912 | C10orf105,CDH23 | c.3637T= (p.Tyr1213=) c.3634T= (p.Tyr1212=) c.3652T= (p.Tyr1218=) c.-6+7202A= (n.-6+7202A=) n.329T= c.3832T= (p.Tyr1278=) c.3766T= (p.Tyr1256=) c.3826T= (p.Tyr1276=) c.3772T= (p.Tyr1258=) c.3697T= (p.Tyr1233=) c.3292T= (p.Tyr1098=) c.2650T= (p.Tyr884=) c.160T= (p.Tyr54=) n.4075T= | |
10 | g.71730527A= | CA1918848913 | C10orf105,CDH23 | c.3638A= (p.Tyr1213=) c.3635A= (p.Tyr1212=) c.3653A= (p.Tyr1218=) c.-6+7201T= (n.-6+7201T=) n.330A= c.3833A= (p.Tyr1278=) c.3767A= (p.Tyr1256=) c.3827A= (p.Tyr1276=) c.3773A= (p.Tyr1258=) c.3698A= (p.Tyr1233=) c.3293A= (p.Tyr1098=) c.2651A= (p.Tyr884=) c.161A= (p.Tyr54=) n.4076A= | |
10 | g.71730527A>C | CA377154494 | C10orf105,CDH23 | c.3638A>C (p.Tyr1213Ser) c.3635A>C (p.Tyr1212Ser) c.3653A>C (p.Tyr1218Ser) c.-6+7201T>G (n.-6+7201T>G) n.330A>C c.3833A>C (p.Tyr1278Ser) c.3767A>C (p.Tyr1256Ser) c.3827A>C (p.Tyr1276Ser) c.3773A>C (p.Tyr1258Ser) c.3698A>C (p.Tyr1233Ser) c.3293A>C (p.Tyr1098Ser) c.2651A>C (p.Tyr884Ser) c.161A>C (p.Tyr54Ser) n.4076A>C | |
10 | g.71730527A>G | CA5544793 | C10orf105,CDH23 | c.3638A>G (p.Tyr1213Cys) c.3635A>G (p.Tyr1212Cys) c.3653A>G (p.Tyr1218Cys) c.-6+7201T>C (n.-6+7201T>C) n.330A>G c.3833A>G (p.Tyr1278Cys) c.3767A>G (p.Tyr1256Cys) c.3827A>G (p.Tyr1276Cys) c.3773A>G (p.Tyr1258Cys) c.3698A>G (p.Tyr1233Cys) c.3293A>G (p.Tyr1098Cys) c.2651A>G (p.Tyr884Cys) c.161A>G (p.Tyr54Cys) n.4076A>G | dbSNP ExAC gnomAD v2 |
10 | g.71730527A>T | CA377154497 | C10orf105,CDH23 | c.3638A>T (p.Tyr1213Phe) c.3635A>T (p.Tyr1212Phe) c.3653A>T (p.Tyr1218Phe) c.-6+7201T>A (n.-6+7201T>A) n.330A>T c.3833A>T (p.Tyr1278Phe) c.3767A>T (p.Tyr1256Phe) c.3827A>T (p.Tyr1276Phe) c.3773A>T (p.Tyr1258Phe) c.3698A>T (p.Tyr1233Phe) c.3293A>T (p.Tyr1098Phe) c.2651A>T (p.Tyr884Phe) c.161A>T (p.Tyr54Phe) n.4076A>T | |
10 | g.71730528C>A | CA377154501 | C10orf105,CDH23 | c.3639C>A (p.Tyr1213Ter) c.3636C>A (p.Tyr1212Ter) c.3654C>A (p.Tyr1218Ter) c.-6+7200G>T (n.-6+7200G>T) n.331C>A c.3834C>A (p.Tyr1278Ter) c.3768C>A (p.Tyr1256Ter) c.3828C>A (p.Tyr1276Ter) c.3774C>A (p.Tyr1258Ter) c.3699C>A (p.Tyr1233Ter) c.3294C>A (p.Tyr1098Ter) c.2652C>A (p.Tyr884Ter) c.162C>A (p.Tyr54Ter) n.4077C>A | dbSNP |
10 | g.71730528C>G | CA377154511 | C10orf105,CDH23 | c.3639C>G (p.Tyr1213Ter) c.3636C>G (p.Tyr1212Ter) c.3654C>G (p.Tyr1218Ter) c.-6+7200G>C (n.-6+7200G>C) n.331C>G c.3834C>G (p.Tyr1278Ter) c.3768C>G (p.Tyr1256Ter) c.3828C>G (p.Tyr1276Ter) c.3774C>G (p.Tyr1258Ter) c.3699C>G (p.Tyr1233Ter) c.3294C>G (p.Tyr1098Ter) c.2652C>G (p.Tyr884Ter) c.162C>G (p.Tyr54Ter) n.4077C>G | |
10 | g.71730528C>T | CA470066619 | C10orf105,CDH23 | c.3639C>T (p.Tyr1213=) c.3636C>T (p.Tyr1212=) c.3654C>T (p.Tyr1218=) c.-6+7200G>A (n.-6+7200G>A) n.331C>T c.3834C>T (p.Tyr1278=) c.3768C>T (p.Tyr1256=) c.3828C>T (p.Tyr1276=) c.3774C>T (p.Tyr1258=) c.3699C>T (p.Tyr1233=) c.3294C>T (p.Tyr1098=) c.2652C>T (p.Tyr884=) c.162C>T (p.Tyr54=) n.4077C>T | dbSNP |
10 | g.71730529A= | CA1918848914 | C10orf105,CDH23 | c.3640A= (p.Ser1214=) c.3637A= (p.Ser1213=) c.3655A= (p.Ser1219=) c.-6+7199T= (n.-6+7199T=) n.332A= c.3835A= (p.Ser1279=) c.3769A= (p.Ser1257=) c.3829A= (p.Ser1277=) c.3775A= (p.Ser1259=) c.3700A= (p.Ser1234=) c.3295A= (p.Ser1099=) c.2653A= (p.Ser885=) c.163A= (p.Ser55=) n.4078A= | |
10 | g.71730529A>C | CA377154514 | C10orf105,CDH23 | c.3640A>C (p.Ser1214Arg) c.3637A>C (p.Ser1213Arg) c.3655A>C (p.Ser1219Arg) c.-6+7199T>G (n.-6+7199T>G) n.332A>C c.3835A>C (p.Ser1279Arg) c.3769A>C (p.Ser1257Arg) c.3829A>C (p.Ser1277Arg) c.3775A>C (p.Ser1259Arg) c.3700A>C (p.Ser1234Arg) c.3295A>C (p.Ser1099Arg) c.2653A>C (p.Ser885Arg) c.163A>C (p.Ser55Arg) n.4078A>C |