| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | ClinVar 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 | |
| 10 | g.71730529A>G | CA377154515 | C10orf105,CDH23 | c.3640A>G (p.Ser1214Gly) c.3637A>G (p.Ser1213Gly) c.3655A>G (p.Ser1219Gly) c.-6+7199T>C (n.-6+7199T>C) n.332A>G c.3835A>G (p.Ser1279Gly) c.3769A>G (p.Ser1257Gly) c.3829A>G (p.Ser1277Gly) c.3775A>G (p.Ser1259Gly) c.3700A>G (p.Ser1234Gly) c.3295A>G (p.Ser1099Gly) c.2653A>G (p.Ser885Gly) c.163A>G (p.Ser55Gly) n.4078A>G | |
| 10 | g.71730529A>T | CA377154517 | C10orf105,CDH23 | c.3640A>T (p.Ser1214Cys) c.3637A>T (p.Ser1213Cys) c.3655A>T (p.Ser1219Cys) c.-6+7199T>A (n.-6+7199T>A) n.332A>T c.3835A>T (p.Ser1279Cys) c.3769A>T (p.Ser1257Cys) c.3829A>T (p.Ser1277Cys) c.3775A>T (p.Ser1259Cys) c.3700A>T (p.Ser1234Cys) c.3295A>T (p.Ser1099Cys) c.2653A>T (p.Ser885Cys) c.163A>T (p.Ser55Cys) n.4078A>T | dbSNP |
| 10 | g.71730530G>A | CA377154522 | C10orf105,CDH23 | c.3641G>A (p.Ser1214Asn) c.3638G>A (p.Ser1213Asn) c.3656G>A (p.Ser1219Asn) c.-6+7198C>T (n.-6+7198C>T) n.333G>A c.3836G>A (p.Ser1279Asn) c.3770G>A (p.Ser1257Asn) c.3830G>A (p.Ser1277Asn) c.3776G>A (p.Ser1259Asn) c.3701G>A (p.Ser1234Asn) c.3296G>A (p.Ser1099Asn) c.2654G>A (p.Ser885Asn) c.164G>A (p.Ser55Asn) n.4079G>A | dbSNP |
| 10 | g.71730530G>C | CA377154521 | C10orf105,CDH23 | c.3641G>C (p.Ser1214Thr) c.3638G>C (p.Ser1213Thr) c.3656G>C (p.Ser1219Thr) c.-6+7198C>G (n.-6+7198C>G) n.333G>C c.3836G>C (p.Ser1279Thr) c.3770G>C (p.Ser1257Thr) c.3830G>C (p.Ser1277Thr) c.3776G>C (p.Ser1259Thr) c.3701G>C (p.Ser1234Thr) c.3296G>C (p.Ser1099Thr) c.2654G>C (p.Ser885Thr) c.164G>C (p.Ser55Thr) n.4079G>C | dbSNP |
| 10 | g.71730530G>T | CA377154519 | C10orf105,CDH23 | c.3641G>T (p.Ser1214Ile) c.3638G>T (p.Ser1213Ile) c.3656G>T (p.Ser1219Ile) c.-6+7198C>A (n.-6+7198C>A) n.333G>T c.3836G>T (p.Ser1279Ile) c.3770G>T (p.Ser1257Ile) c.3830G>T (p.Ser1277Ile) c.3776G>T (p.Ser1259Ile) c.3701G>T (p.Ser1234Ile) c.3296G>T (p.Ser1099Ile) c.2654G>T (p.Ser885Ile) c.164G>T (p.Ser55Ile) n.4079G>T | |
| 10 | g.71730531C>A | CA377154523 | C10orf105,CDH23 | c.3642C>A (p.Ser1214Arg) c.3639C>A (p.Ser1213Arg) c.3657C>A (p.Ser1219Arg) c.-6+7197G>T (n.-6+7197G>T) n.334C>A c.3837C>A (p.Ser1279Arg) c.3771C>A (p.Ser1257Arg) c.3831C>A (p.Ser1277Arg) c.3777C>A (p.Ser1259Arg) c.3702C>A (p.Ser1234Arg) c.3297C>A (p.Ser1099Arg) c.2655C>A (p.Ser885Arg) c.165C>A (p.Ser55Arg) n.4080C>A | dbSNP gnomAD v4 |
| 10 | g.71730531C>G | CA377154524 | C10orf105,CDH23 | c.3642C>G (p.Ser1214Arg) c.3639C>G (p.Ser1213Arg) c.3657C>G (p.Ser1219Arg) c.-6+7197G>C (n.-6+7197G>C) n.334C>G c.3837C>G (p.Ser1279Arg) c.3771C>G (p.Ser1257Arg) c.3831C>G (p.Ser1277Arg) c.3777C>G (p.Ser1259Arg) c.3702C>G (p.Ser1234Arg) c.3297C>G (p.Ser1099Arg) c.2655C>G (p.Ser885Arg) c.165C>G (p.Ser55Arg) n.4080C>G | dbSNP |
| 10 | g.71730531C>T | CA470066625 | C10orf105,CDH23 | c.3642C>T (p.Ser1214=) c.3639C>T (p.Ser1213=) c.3657C>T (p.Ser1219=) c.-6+7197G>A (n.-6+7197G>A) n.334C>T c.3837C>T (p.Ser1279=) c.3771C>T (p.Ser1257=) c.3831C>T (p.Ser1277=) c.3777C>T (p.Ser1259=) c.3702C>T (p.Ser1234=) c.3297C>T (p.Ser1099=) c.2655C>T (p.Ser885=) c.165C>T (p.Ser55=) n.4080C>T | ClinVar dbSNP gnomAD v4 |
| 10 | g.71730532C>A | CA377154525 | C10orf105,CDH23 | c.3643C>A (p.Arg1215Ser) c.3640C>A (p.Arg1214Ser) c.3658C>A (p.Arg1220Ser) c.-6+7196G>T (n.-6+7196G>T) n.335C>A c.3838C>A (p.Arg1280Ser) c.3772C>A (p.Arg1258Ser) c.3832C>A (p.Arg1278Ser) c.3778C>A (p.Arg1260Ser) c.3703C>A (p.Arg1235Ser) c.3298C>A (p.Arg1100Ser) c.2656C>A (p.Arg886Ser) c.166C>A (p.Arg56Ser) n.4081C>A | ClinVar |
| 10 | g.71730532C= | CA1918848915 | C10orf105,CDH23 | c.3643C= (p.Arg1215=) c.3640C= (p.Arg1214=) c.3658C= (p.Arg1220=) c.-6+7196G= (n.-6+7196G=) n.335C= c.3838C= (p.Arg1280=) c.3772C= (p.Arg1258=) c.3832C= (p.Arg1278=) c.3778C= (p.Arg1260=) c.3703C= (p.Arg1235=) c.3298C= (p.Arg1100=) c.2656C= (p.Arg886=) c.166C= (p.Arg56=) n.4081C= | |
| 10 | g.71730532C>G | CA377154526 | C10orf105,CDH23 | c.3643C>G (p.Arg1215Gly) c.3640C>G (p.Arg1214Gly) c.3658C>G (p.Arg1220Gly) c.-6+7196G>C (n.-6+7196G>C) n.335C>G c.3838C>G (p.Arg1280Gly) c.3772C>G (p.Arg1258Gly) c.3832C>G (p.Arg1278Gly) c.3778C>G (p.Arg1260Gly) c.3703C>G (p.Arg1235Gly) c.3298C>G (p.Arg1100Gly) c.2656C>G (p.Arg886Gly) c.166C>G (p.Arg56Gly) n.4081C>G | |
| 10 | g.71730532C>T | CA5544794 | C10orf105,CDH23 | c.3643C>T (p.Arg1215Cys) c.3640C>T (p.Arg1214Cys) c.3658C>T (p.Arg1220Cys) c.-6+7196G>A (n.-6+7196G>A) n.335C>T c.3838C>T (p.Arg1280Cys) c.3772C>T (p.Arg1258Cys) c.3832C>T (p.Arg1278Cys) c.3778C>T (p.Arg1260Cys) c.3703C>T (p.Arg1235Cys) c.3298C>T (p.Arg1100Cys) c.2656C>T (p.Arg886Cys) c.166C>T (p.Arg56Cys) n.4081C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71730533G>A | CA5544795 | C10orf105,CDH23 | c.3644G>A (p.Arg1215His) c.3641G>A (p.Arg1214His) c.3659G>A (p.Arg1220His) c.-6+7195C>T (n.-6+7195C>T) n.336G>A c.3839G>A (p.Arg1280His) c.3773G>A (p.Arg1258His) c.3833G>A (p.Arg1278His) c.3779G>A (p.Arg1260His) c.3704G>A (p.Arg1235His) c.3299G>A (p.Arg1100His) c.2657G>A (p.Arg886His) c.167G>A (p.Arg56His) n.4082G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71730533G>C | CA377154531 | C10orf105,CDH23 | c.3644G>C (p.Arg1215Pro) c.3641G>C (p.Arg1214Pro) c.3659G>C (p.Arg1220Pro) c.-6+7195C>G (n.-6+7195C>G) n.336G>C c.3839G>C (p.Arg1280Pro) c.3773G>C (p.Arg1258Pro) c.3833G>C (p.Arg1278Pro) c.3779G>C (p.Arg1260Pro) c.3704G>C (p.Arg1235Pro) c.3299G>C (p.Arg1100Pro) c.2657G>C (p.Arg886Pro) c.167G>C (p.Arg56Pro) n.4082G>C | dbSNP |