Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71712745A= | CA1918844448 | C10orf105,CDH23 | c.3301A= (p.Ile1101=) c.*3191T= (n.*3191T=) c.2732A= c.3316A= (p.Ile1106=) n.142A= c.2076A= c.3496A= (p.Ile1166=) c.3430A= (p.Ile1144=) c.3490A= (p.Ile1164=) c.3436A= (p.Ile1146=) c.3361A= (p.Ile1121=) c.2956A= (p.Ile986=) c.2314A= (p.Ile772=) n.3739A= | |
10 | g.71712745A>C | CA377144441 | C10orf105,CDH23 | c.3301A>C (p.Ile1101Leu) c.*3191T>G (n.*3191T>G) c.2732A>C c.3316A>C (p.Ile1106Leu) n.142A>C c.2076A>C c.3496A>C (p.Ile1166Leu) c.3430A>C (p.Ile1144Leu) c.3490A>C (p.Ile1164Leu) c.3436A>C (p.Ile1146Leu) c.3361A>C (p.Ile1121Leu) c.2956A>C (p.Ile986Leu) c.2314A>C (p.Ile772Leu) n.3739A>C | |
10 | g.71712745A>G | CA233645 | C10orf105,CDH23 | c.3301A>G (p.Ile1101Val) c.*3191T>C (n.*3191T>C) c.2732A>G c.3316A>G (p.Ile1106Val) n.142A>G c.2076A>G c.3496A>G (p.Ile1166Val) c.3430A>G (p.Ile1144Val) c.3490A>G (p.Ile1164Val) c.3436A>G (p.Ile1146Val) c.3361A>G (p.Ile1121Val) c.2956A>G (p.Ile986Val) c.2314A>G (p.Ile772Val) n.3739A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712745A>T | CA377144442 | C10orf105,CDH23 | c.3301A>T (p.Ile1101Phe) c.*3191T>A (n.*3191T>A) c.2732A>T c.3316A>T (p.Ile1106Phe) n.142A>T c.2076A>T c.3496A>T (p.Ile1166Phe) c.3430A>T (p.Ile1144Phe) c.3490A>T (p.Ile1164Phe) c.3436A>T (p.Ile1146Phe) c.3361A>T (p.Ile1121Phe) c.2956A>T (p.Ile986Phe) c.2314A>T (p.Ile772Phe) n.3739A>T | |
10 | g.71712746T>A | CA377144444 | C10orf105,CDH23 | c.3302T>A (p.Ile1101Asn) c.*3190A>T (n.*3190A>T) c.2733T>A c.3317T>A (p.Ile1106Asn) n.143T>A c.2077T>A c.3497T>A (p.Ile1166Asn) c.3431T>A (p.Ile1144Asn) c.3491T>A (p.Ile1164Asn) c.3437T>A (p.Ile1146Asn) c.3362T>A (p.Ile1121Asn) c.2957T>A (p.Ile986Asn) c.2315T>A (p.Ile772Asn) n.3740T>A | |
10 | g.71712746T>C | CA377144448 | C10orf105,CDH23 | c.3302T>C (p.Ile1101Thr) c.*3190A>G (n.*3190A>G) c.2733T>C c.3317T>C (p.Ile1106Thr) n.143T>C c.2077T>C c.3497T>C (p.Ile1166Thr) c.3431T>C (p.Ile1144Thr) c.3491T>C (p.Ile1164Thr) c.3437T>C (p.Ile1146Thr) c.3362T>C (p.Ile1121Thr) c.2957T>C (p.Ile986Thr) c.2315T>C (p.Ile772Thr) n.3740T>C | |
10 | g.71712746T>G | CA377144453 | C10orf105,CDH23 | c.3302T>G (p.Ile1101Ser) c.*3190A>C (n.*3190A>C) c.2733T>G c.3317T>G (p.Ile1106Ser) n.143T>G c.2077T>G c.3497T>G (p.Ile1166Ser) c.3431T>G (p.Ile1144Ser) c.3491T>G (p.Ile1164Ser) c.3437T>G (p.Ile1146Ser) c.3362T>G (p.Ile1121Ser) c.2957T>G (p.Ile986Ser) c.2315T>G (p.Ile772Ser) n.3740T>G | |
10 | g.71712747C>A | CA470063000 | C10orf105,CDH23 | c.3303C>A (p.Ile1101=) c.*3189G>T (n.*3189G>T) c.2734C>A c.3318C>A (p.Ile1106=) n.144C>A c.2078C>A c.3498C>A (p.Ile1166=) c.3432C>A (p.Ile1144=) c.3492C>A (p.Ile1164=) c.3438C>A (p.Ile1146=) c.3363C>A (p.Ile1121=) c.2958C>A (p.Ile986=) c.2316C>A (p.Ile772=) n.3741C>A | |
10 | g.71712747C>G | CA377144461 | C10orf105,CDH23 | c.3303C>G (p.Ile1101Met) c.*3189G>C (n.*3189G>C) c.2734C>G c.3318C>G (p.Ile1106Met) n.144C>G c.2078C>G c.3498C>G (p.Ile1166Met) c.3432C>G (p.Ile1144Met) c.3492C>G (p.Ile1164Met) c.3438C>G (p.Ile1146Met) c.3363C>G (p.Ile1121Met) c.2958C>G (p.Ile986Met) c.2316C>G (p.Ile772Met) n.3741C>G | |
10 | g.71712747C>T | CA470062999 | C10orf105,CDH23 | c.3303C>T (p.Ile1101=) c.*3189G>A (n.*3189G>A) c.2734C>T c.3318C>T (p.Ile1106=) n.144C>T c.2078C>T c.3498C>T (p.Ile1166=) c.3432C>T (p.Ile1144=) c.3492C>T (p.Ile1164=) c.3438C>T (p.Ile1146=) c.3363C>T (p.Ile1121=) c.2958C>T (p.Ile986=) c.2316C>T (p.Ile772=) n.3741C>T | |
10 | g.71712748T>A | CA377144464 | C10orf105,CDH23 | c.3304T>A (p.Phe1102Ile) c.*3188A>T (n.*3188A>T) c.2735T>A c.3319T>A (p.Phe1107Ile) n.145T>A c.2079T>A c.3499T>A (p.Phe1167Ile) c.3433T>A (p.Phe1145Ile) c.3493T>A (p.Phe1165Ile) c.3439T>A (p.Phe1147Ile) c.3364T>A (p.Phe1122Ile) c.2959T>A (p.Phe987Ile) c.2317T>A (p.Phe773Ile) n.3742T>A | |
10 | g.71712748T>C | CA377144469 | C10orf105,CDH23 | c.3304T>C (p.Phe1102Leu) c.*3188A>G (n.*3188A>G) c.2735T>C c.3319T>C (p.Phe1107Leu) n.145T>C c.2079T>C c.3499T>C (p.Phe1167Leu) c.3433T>C (p.Phe1145Leu) c.3493T>C (p.Phe1165Leu) c.3439T>C (p.Phe1147Leu) c.3364T>C (p.Phe1122Leu) c.2959T>C (p.Phe987Leu) c.2317T>C (p.Phe773Leu) n.3742T>C | |
10 | g.71712748T>G | CA377144472 | C10orf105,CDH23 | c.3304T>G (p.Phe1102Val) c.*3188A>C (n.*3188A>C) c.2735T>G c.3319T>G (p.Phe1107Val) n.145T>G c.2079T>G c.3499T>G (p.Phe1167Val) c.3433T>G (p.Phe1145Val) c.3493T>G (p.Phe1165Val) c.3439T>G (p.Phe1147Val) c.3364T>G (p.Phe1122Val) c.2959T>G (p.Phe987Val) c.2317T>G (p.Phe773Val) n.3742T>G | gnomAD v4 |
10 | g.71712749T>A | CA5544550 | C10orf105,CDH23 | c.3305T>A (p.Phe1102Tyr) c.*3187A>T (n.*3187A>T) c.2736T>A c.3320T>A (p.Phe1107Tyr) n.146T>A c.2080T>A c.3500T>A (p.Phe1167Tyr) c.3434T>A (p.Phe1145Tyr) c.3494T>A (p.Phe1165Tyr) c.3440T>A (p.Phe1147Tyr) c.3365T>A (p.Phe1122Tyr) c.2960T>A (p.Phe987Tyr) c.2318T>A (p.Phe773Tyr) n.3743T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712749T>C | CA377144484 | C10orf105,CDH23 | c.3305T>C (p.Phe1102Ser) c.*3187A>G (n.*3187A>G) c.2736T>C c.3320T>C (p.Phe1107Ser) n.146T>C c.2080T>C c.3500T>C (p.Phe1167Ser) c.3434T>C (p.Phe1145Ser) c.3494T>C (p.Phe1165Ser) c.3440T>C (p.Phe1147Ser) c.3365T>C (p.Phe1122Ser) c.2960T>C (p.Phe987Ser) c.2318T>C (p.Phe773Ser) n.3743T>C | |
10 | g.71712749T>G | CA377144487 | C10orf105,CDH23 | c.3305T>G (p.Phe1102Cys) c.*3187A>C (n.*3187A>C) c.2736T>G c.3320T>G (p.Phe1107Cys) n.146T>G c.2080T>G c.3500T>G (p.Phe1167Cys) c.3434T>G (p.Phe1145Cys) c.3494T>G (p.Phe1165Cys) c.3440T>G (p.Phe1147Cys) c.3365T>G (p.Phe1122Cys) c.2960T>G (p.Phe987Cys) c.2318T>G (p.Phe773Cys) n.3743T>G | |
10 | g.71712749T= | CA1918844454 | C10orf105,CDH23 | c.3305T= (p.Phe1102=) c.*3187A= (n.*3187A=) c.2736T= c.3320T= (p.Phe1107=) n.146T= c.2080T= c.3500T= (p.Phe1167=) c.3434T= (p.Phe1145=) c.3494T= (p.Phe1165=) c.3440T= (p.Phe1147=) c.3365T= (p.Phe1122=) c.2960T= (p.Phe987=) c.2318T= (p.Phe773=) n.3743T= | |
10 | g.71712750T>A | CA377144489 | C10orf105,CDH23 | c.3306T>A (p.Phe1102Leu) c.*3186A>T (n.*3186A>T) c.2737T>A c.3321T>A (p.Phe1107Leu) n.147T>A c.2081T>A c.3501T>A (p.Phe1167Leu) c.3435T>A (p.Phe1145Leu) c.3495T>A (p.Phe1165Leu) c.3441T>A (p.Phe1147Leu) c.3366T>A (p.Phe1122Leu) c.2961T>A (p.Phe987Leu) c.2319T>A (p.Phe773Leu) n.3744T>A | |
10 | g.71712750T>C | CA470063002 | C10orf105,CDH23 | c.3306T>C (p.Phe1102=) c.*3186A>G (n.*3186A>G) c.2737T>C c.3321T>C (p.Phe1107=) n.147T>C c.2081T>C c.3501T>C (p.Phe1167=) c.3435T>C (p.Phe1145=) c.3495T>C (p.Phe1165=) c.3441T>C (p.Phe1147=) c.3366T>C (p.Phe1122=) c.2961T>C (p.Phe987=) c.2319T>C (p.Phe773=) n.3744T>C | |
10 | g.71712750T>G | CA377144492 | C10orf105,CDH23 | c.3306T>G (p.Phe1102Leu) c.*3186A>C (n.*3186A>C) c.2737T>G c.3321T>G (p.Phe1107Leu) n.147T>G c.2081T>G c.3501T>G (p.Phe1167Leu) c.3435T>G (p.Phe1145Leu) c.3495T>G (p.Phe1165Leu) c.3441T>G (p.Phe1147Leu) c.3366T>G (p.Phe1122Leu) c.2961T>G (p.Phe987Leu) c.2319T>G (p.Phe773Leu) n.3744T>G | |
10 | g.71712751C>A | CA377144496 | C10orf105,CDH23 | c.3307C>A (p.Leu1103Met) c.*3185G>T (n.*3185G>T) c.2738C>A c.3322C>A (p.Leu1108Met) n.148C>A c.2082C>A c.3502C>A (p.Leu1168Met) c.3436C>A (p.Leu1146Met) c.3496C>A (p.Leu1166Met) c.3442C>A (p.Leu1148Met) c.3367C>A (p.Leu1123Met) c.2962C>A (p.Leu988Met) c.2320C>A (p.Leu774Met) n.3745C>A | |
10 | g.71712751C= | CA1918844460 | C10orf105,CDH23 | c.3307C= (p.Leu1103=) c.*3185G= (n.*3185G=) c.2738C= c.3322C= (p.Leu1108=) n.148C= c.2082C= c.3502C= (p.Leu1168=) c.3436C= (p.Leu1146=) c.3496C= (p.Leu1166=) c.3442C= (p.Leu1148=) c.3367C= (p.Leu1123=) c.2962C= (p.Leu988=) c.2320C= (p.Leu774=) n.3745C= | |
10 | g.71712751C>G | CA377144498 | C10orf105,CDH23 | c.3307C>G (p.Leu1103Val) c.*3185G>C (n.*3185G>C) c.2738C>G c.3322C>G (p.Leu1108Val) n.148C>G c.2082C>G c.3502C>G (p.Leu1168Val) c.3436C>G (p.Leu1146Val) c.3496C>G (p.Leu1166Val) c.3442C>G (p.Leu1148Val) c.3367C>G (p.Leu1123Val) c.2962C>G (p.Leu988Val) c.2320C>G (p.Leu774Val) n.3745C>G | |
10 | g.71712751C>T | CA209465226 | C10orf105,CDH23 | c.3307C>T (p.Leu1103=) c.*3185G>A (n.*3185G>A) c.2738C>T c.3322C>T (p.Leu1108=) n.148C>T c.2082C>T c.3502C>T (p.Leu1168=) c.3436C>T (p.Leu1146=) c.3496C>T (p.Leu1166=) c.3442C>T (p.Leu1148=) c.3367C>T (p.Leu1123=) c.2962C>T (p.Leu988=) c.2320C>T (p.Leu774=) n.3745C>T | dbSNP |
10 | g.71712752T>A | CA377144500 | C10orf105,CDH23 | c.3308T>A (p.Leu1103Gln) c.*3184A>T (n.*3184A>T) c.2739T>A c.3323T>A (p.Leu1108Gln) n.149T>A c.2083T>A c.3503T>A (p.Leu1168Gln) c.3437T>A (p.Leu1146Gln) c.3497T>A (p.Leu1166Gln) c.3443T>A (p.Leu1148Gln) c.3368T>A (p.Leu1123Gln) c.2963T>A (p.Leu988Gln) c.2321T>A (p.Leu774Gln) n.3746T>A | |
10 | g.71712752T>C | CA377144509 | C10orf105,CDH23 | c.3308T>C (p.Leu1103Pro) c.*3184A>G (n.*3184A>G) c.2739T>C c.3323T>C (p.Leu1108Pro) n.149T>C c.2083T>C c.3503T>C (p.Leu1168Pro) c.3437T>C (p.Leu1146Pro) c.3497T>C (p.Leu1166Pro) c.3443T>C (p.Leu1148Pro) c.3368T>C (p.Leu1123Pro) c.2963T>C (p.Leu988Pro) c.2321T>C (p.Leu774Pro) n.3746T>C | |
10 | g.71712752T>G | CA377144502 | C10orf105,CDH23 | c.3308T>G (p.Leu1103Arg) c.*3184A>C (n.*3184A>C) c.2739T>G c.3323T>G (p.Leu1108Arg) n.149T>G c.2083T>G c.3503T>G (p.Leu1168Arg) c.3437T>G (p.Leu1146Arg) c.3497T>G (p.Leu1166Arg) c.3443T>G (p.Leu1148Arg) c.3368T>G (p.Leu1123Arg) c.2963T>G (p.Leu988Arg) c.2321T>G (p.Leu774Arg) n.3746T>G | |
10 | g.71712753G>A | CA470063008 | C10orf105,CDH23 | c.3309G>A (p.Leu1103=) c.*3183C>T (n.*3183C>T) c.2740G>A c.3324G>A (p.Leu1108=) n.150G>A c.2084G>A c.3504G>A (p.Leu1168=) c.3438G>A (p.Leu1146=) c.3498G>A (p.Leu1166=) c.3444G>A (p.Leu1148=) c.3369G>A (p.Leu1123=) c.2964G>A (p.Leu988=) c.2322G>A (p.Leu774=) n.3747G>A | |
10 | g.71712753G>C | CA470063007 | C10orf105,CDH23 | c.3309G>C (p.Leu1103=) c.*3183C>G (n.*3183C>G) c.2740G>C c.3324G>C (p.Leu1108=) n.150G>C c.2084G>C c.3504G>C (p.Leu1168=) c.3438G>C (p.Leu1146=) c.3498G>C (p.Leu1166=) c.3444G>C (p.Leu1148=) c.3369G>C (p.Leu1123=) c.2964G>C (p.Leu988=) c.2322G>C (p.Leu774=) n.3747G>C | |
10 | g.71712753G>T | CA470063006 | C10orf105,CDH23 | c.3309G>T (p.Leu1103=) c.*3183C>A (n.*3183C>A) c.2740G>T c.3324G>T (p.Leu1108=) n.150G>T c.2084G>T c.3504G>T (p.Leu1168=) c.3438G>T (p.Leu1146=) c.3498G>T (p.Leu1166=) c.3444G>T (p.Leu1148=) c.3369G>T (p.Leu1123=) c.2964G>T (p.Leu988=) c.2322G>T (p.Leu774=) n.3747G>T | |
10 | g.71712754C>A | CA377144524 | C10orf105,CDH23 | c.3310C>A (p.Gln1104Lys) c.*3182G>T (n.*3182G>T) c.2741C>A c.3325C>A (p.Gln1109Lys) n.151C>A c.2085C>A c.3505C>A (p.Gln1169Lys) c.3439C>A (p.Gln1147Lys) c.3499C>A (p.Gln1167Lys) c.3445C>A (p.Gln1149Lys) c.3370C>A (p.Gln1124Lys) c.2965C>A (p.Gln989Lys) c.2323C>A (p.Gln775Lys) n.3748C>A | gnomAD v4 |
10 | g.71712754C>G | CA377144539 | C10orf105,CDH23 | c.3310C>G (p.Gln1104Glu) c.*3182G>C (n.*3182G>C) c.2741C>G c.3325C>G (p.Gln1109Glu) n.151C>G c.2085C>G c.3505C>G (p.Gln1169Glu) c.3439C>G (p.Gln1147Glu) c.3499C>G (p.Gln1167Glu) c.3445C>G (p.Gln1149Glu) c.3370C>G (p.Gln1124Glu) c.2965C>G (p.Gln989Glu) c.2323C>G (p.Gln775Glu) n.3748C>G | |
10 | g.71712754C>T | CA377144527 | C10orf105,CDH23 | c.3310C>T (p.Gln1104Ter) c.*3182G>A (n.*3182G>A) c.2741C>T c.3325C>T (p.Gln1109Ter) n.151C>T c.2085C>T c.3505C>T (p.Gln1169Ter) c.3439C>T (p.Gln1147Ter) c.3499C>T (p.Gln1167Ter) c.3445C>T (p.Gln1149Ter) c.3370C>T (p.Gln1124Ter) c.2965C>T (p.Gln989Ter) c.2323C>T (p.Gln775Ter) n.3748C>T | |
10 | g.71712755A>C | CA377144545 | C10orf105,CDH23 | c.3311A>C (p.Gln1104Pro) c.*3181T>G (n.*3181T>G) c.2742A>C c.3326A>C (p.Gln1109Pro) n.152A>C c.2086A>C c.3506A>C (p.Gln1169Pro) c.3440A>C (p.Gln1147Pro) c.3500A>C (p.Gln1167Pro) c.3446A>C (p.Gln1149Pro) c.3371A>C (p.Gln1124Pro) c.2966A>C (p.Gln989Pro) c.2324A>C (p.Gln775Pro) n.3749A>C | |
10 | g.71712755A>G | CA377144553 | C10orf105,CDH23 | c.3311A>G (p.Gln1104Arg) c.*3181T>C (n.*3181T>C) c.2742A>G c.3326A>G (p.Gln1109Arg) n.152A>G c.2086A>G c.3506A>G (p.Gln1169Arg) c.3440A>G (p.Gln1147Arg) c.3500A>G (p.Gln1167Arg) c.3446A>G (p.Gln1149Arg) c.3371A>G (p.Gln1124Arg) c.2966A>G (p.Gln989Arg) c.2324A>G (p.Gln775Arg) n.3749A>G | |
10 | g.71712755A>T | CA377144556 | C10orf105,CDH23 | c.3311A>T (p.Gln1104Leu) c.*3181T>A (n.*3181T>A) c.2742A>T c.3326A>T (p.Gln1109Leu) n.152A>T c.2086A>T c.3506A>T (p.Gln1169Leu) c.3440A>T (p.Gln1147Leu) c.3500A>T (p.Gln1167Leu) c.3446A>T (p.Gln1149Leu) c.3371A>T (p.Gln1124Leu) c.2966A>T (p.Gln989Leu) c.2324A>T (p.Gln775Leu) n.3749A>T | gnomAD v4 |
10 | g.71712756G>A | CA470063011 | C10orf105,CDH23 | c.3312G>A (p.Gln1104=) c.*3180C>T (n.*3180C>T) c.2743G>A c.3327G>A (p.Gln1109=) n.153G>A c.2087G>A c.3507G>A (p.Gln1169=) c.3441G>A (p.Gln1147=) c.3501G>A (p.Gln1167=) c.3447G>A (p.Gln1149=) c.3372G>A (p.Gln1124=) c.2967G>A (p.Gln989=) c.2325G>A (p.Gln775=) n.3750G>A | |
10 | g.71712756G>C | CA377144562 | C10orf105,CDH23 | c.3312G>C (p.Gln1104His) c.*3180C>G (n.*3180C>G) c.2743G>C c.3327G>C (p.Gln1109His) n.153G>C c.2087G>C c.3507G>C (p.Gln1169His) c.3441G>C (p.Gln1147His) c.3501G>C (p.Gln1167His) c.3447G>C (p.Gln1149His) c.3372G>C (p.Gln1124His) c.2967G>C (p.Gln989His) c.2325G>C (p.Gln775His) n.3750G>C | |
10 | g.71712756G>T | CA377144564 | C10orf105,CDH23 | c.3312G>T (p.Gln1104His) c.*3180C>A (n.*3180C>A) c.2743G>T c.3327G>T (p.Gln1109His) n.153G>T c.2087G>T c.3507G>T (p.Gln1169His) c.3441G>T (p.Gln1147His) c.3501G>T (p.Gln1167His) c.3447G>T (p.Gln1149His) c.3372G>T (p.Gln1124His) c.2967G>T (p.Gln989His) c.2325G>T (p.Gln775His) n.3750G>T | |
10 | g.71712757A>C | CA377144568 | C10orf105,CDH23 | c.3313A>C (p.Ser1105Arg) c.*3179T>G (n.*3179T>G) c.2744A>C c.3328A>C (p.Ser1110Arg) n.154A>C c.2088A>C c.3508A>C (p.Ser1170Arg) c.3442A>C (p.Ser1148Arg) c.3502A>C (p.Ser1168Arg) c.3448A>C (p.Ser1150Arg) c.3373A>C (p.Ser1125Arg) c.2968A>C (p.Ser990Arg) c.2326A>C (p.Ser776Arg) n.3751A>C | |
10 | g.71712757A>G | CA377144578 | C10orf105,CDH23 | c.3313A>G (p.Ser1105Gly) c.*3179T>C (n.*3179T>C) c.2744A>G c.3328A>G (p.Ser1110Gly) n.154A>G c.2088A>G c.3508A>G (p.Ser1170Gly) c.3442A>G (p.Ser1148Gly) c.3502A>G (p.Ser1168Gly) c.3448A>G (p.Ser1150Gly) c.3373A>G (p.Ser1125Gly) c.2968A>G (p.Ser990Gly) c.2326A>G (p.Ser776Gly) n.3751A>G | |
10 | g.71712757A>T | CA377144586 | C10orf105,CDH23 | c.3313A>T (p.Ser1105Cys) c.*3179T>A (n.*3179T>A) c.2744A>T c.3328A>T (p.Ser1110Cys) n.154A>T c.2088A>T c.3508A>T (p.Ser1170Cys) c.3442A>T (p.Ser1148Cys) c.3502A>T (p.Ser1168Cys) c.3448A>T (p.Ser1150Cys) c.3373A>T (p.Ser1125Cys) c.2968A>T (p.Ser990Cys) c.2326A>T (p.Ser776Cys) n.3751A>T | |
10 | g.71712758G>A | CA377144592 | C10orf105,CDH23 | c.3314G>A (p.Ser1105Asn) c.*3178C>T (n.*3178C>T) c.2745G>A c.3329G>A (p.Ser1110Asn) n.155G>A c.2089G>A c.3509G>A (p.Ser1170Asn) c.3443G>A (p.Ser1148Asn) c.3503G>A (p.Ser1168Asn) c.3449G>A (p.Ser1150Asn) c.3374G>A (p.Ser1125Asn) c.2969G>A (p.Ser990Asn) c.2327G>A (p.Ser776Asn) n.3752G>A | |
10 | g.71712758G>C | CA377144593 | C10orf105,CDH23 | c.3314G>C (p.Ser1105Thr) c.*3178C>G (n.*3178C>G) c.2745G>C c.3329G>C (p.Ser1110Thr) n.155G>C c.2089G>C c.3509G>C (p.Ser1170Thr) c.3443G>C (p.Ser1148Thr) c.3503G>C (p.Ser1168Thr) c.3449G>C (p.Ser1150Thr) c.3374G>C (p.Ser1125Thr) c.2969G>C (p.Ser990Thr) c.2327G>C (p.Ser776Thr) n.3752G>C | |
10 | g.71712758G>T | CA377144594 | C10orf105,CDH23 | c.3314G>T (p.Ser1105Ile) c.*3178C>A (n.*3178C>A) c.2745G>T c.3329G>T (p.Ser1110Ile) n.155G>T c.2089G>T c.3509G>T (p.Ser1170Ile) c.3443G>T (p.Ser1148Ile) c.3503G>T (p.Ser1168Ile) c.3449G>T (p.Ser1150Ile) c.3374G>T (p.Ser1125Ile) c.2969G>T (p.Ser990Ile) c.2327G>T (p.Ser776Ile) n.3752G>T | |
10 | g.71712759C>A | CA377144599 | C10orf105,CDH23 | c.3315C>A (p.Ser1105Arg) c.*3177G>T (n.*3177G>T) c.2746C>A c.3330C>A (p.Ser1110Arg) n.156C>A c.2090C>A c.3510C>A (p.Ser1170Arg) c.3444C>A (p.Ser1148Arg) c.3504C>A (p.Ser1168Arg) c.3450C>A (p.Ser1150Arg) c.3375C>A (p.Ser1125Arg) c.2970C>A (p.Ser990Arg) c.2328C>A (p.Ser776Arg) n.3753C>A | |
10 | g.71712759C>G | CA377144595 | C10orf105,CDH23 | c.3315C>G (p.Ser1105Arg) c.*3177G>C (n.*3177G>C) c.2746C>G c.3330C>G (p.Ser1110Arg) n.156C>G c.2090C>G c.3510C>G (p.Ser1170Arg) c.3444C>G (p.Ser1148Arg) c.3504C>G (p.Ser1168Arg) c.3450C>G (p.Ser1150Arg) c.3375C>G (p.Ser1125Arg) c.2970C>G (p.Ser990Arg) c.2328C>G (p.Ser776Arg) n.3753C>G | |
10 | g.71712759C>T | CA470063016 | C10orf105,CDH23 | c.3315C>T (p.Ser1105=) c.*3177G>A (n.*3177G>A) c.2746C>T c.3330C>T (p.Ser1110=) n.156C>T c.2090C>T c.3510C>T (p.Ser1170=) c.3444C>T (p.Ser1148=) c.3504C>T (p.Ser1168=) c.3450C>T (p.Ser1150=) c.3375C>T (p.Ser1125=) c.2970C>T (p.Ser990=) c.2328C>T (p.Ser776=) n.3753C>T | |
10 | g.71712760A= | CA1918844468 | C10orf105,CDH23 | c.3316A= (p.Ser1106=) c.*3176T= (n.*3176T=) c.2747A= c.3331A= (p.Ser1111=) n.157A= c.2091A= c.3511A= (p.Ser1171=) c.3445A= (p.Ser1149=) c.3505A= (p.Ser1169=) c.3451A= (p.Ser1151=) c.3376A= (p.Ser1126=) c.2971A= (p.Ser991=) c.2329A= (p.Ser777=) n.3754A= | |
10 | g.71712760A>C | CA377144609 | C10orf105,CDH23 | c.3316A>C (p.Ser1106Arg) c.*3176T>G (n.*3176T>G) c.2747A>C c.3331A>C (p.Ser1111Arg) n.157A>C c.2091A>C c.3511A>C (p.Ser1171Arg) c.3445A>C (p.Ser1149Arg) c.3505A>C (p.Ser1169Arg) c.3451A>C (p.Ser1151Arg) c.3376A>C (p.Ser1126Arg) c.2971A>C (p.Ser991Arg) c.2329A>C (p.Ser777Arg) n.3754A>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712760A>G | CA377144610 | C10orf105,CDH23 | c.3316A>G (p.Ser1106Gly) c.*3176T>C (n.*3176T>C) c.2747A>G c.3331A>G (p.Ser1111Gly) n.157A>G c.2091A>G c.3511A>G (p.Ser1171Gly) c.3445A>G (p.Ser1149Gly) c.3505A>G (p.Ser1169Gly) c.3451A>G (p.Ser1151Gly) c.3376A>G (p.Ser1126Gly) c.2971A>G (p.Ser991Gly) c.2329A>G (p.Ser777Gly) n.3754A>G | gnomAD v4 |
10 | g.71712760A>T | CA377144611 | C10orf105,CDH23 | c.3316A>T (p.Ser1106Cys) c.*3176T>A (n.*3176T>A) c.2747A>T c.3331A>T (p.Ser1111Cys) n.157A>T c.2091A>T c.3511A>T (p.Ser1171Cys) c.3445A>T (p.Ser1149Cys) c.3505A>T (p.Ser1169Cys) c.3451A>T (p.Ser1151Cys) c.3376A>T (p.Ser1126Cys) c.2971A>T (p.Ser991Cys) c.2329A>T (p.Ser777Cys) n.3754A>T | |
10 | g.71712761G>A | CA377144612 | C10orf105,CDH23 | c.3317G>A (p.Ser1106Asn) c.*3175C>T (n.*3175C>T) c.2748G>A c.3332G>A (p.Ser1111Asn) n.158G>A c.2092G>A c.3512G>A (p.Ser1171Asn) c.3446G>A (p.Ser1149Asn) c.3506G>A (p.Ser1169Asn) c.3452G>A (p.Ser1151Asn) c.3377G>A (p.Ser1126Asn) c.2972G>A (p.Ser991Asn) c.2330G>A (p.Ser777Asn) n.3755G>A | |
10 | g.71712761G>C | CA377144613 | C10orf105,CDH23 | c.3317G>C (p.Ser1106Thr) c.*3175C>G (n.*3175C>G) c.2748G>C c.3332G>C (p.Ser1111Thr) n.158G>C c.2092G>C c.3512G>C (p.Ser1171Thr) c.3446G>C (p.Ser1149Thr) c.3506G>C (p.Ser1169Thr) c.3452G>C (p.Ser1151Thr) c.3377G>C (p.Ser1126Thr) c.2972G>C (p.Ser991Thr) c.2330G>C (p.Ser777Thr) n.3755G>C | |
10 | g.71712761G>T | CA377144618 | C10orf105,CDH23 | c.3317G>T (p.Ser1106Ile) c.*3175C>A (n.*3175C>A) c.2748G>T c.3332G>T (p.Ser1111Ile) n.158G>T c.2092G>T c.3512G>T (p.Ser1171Ile) c.3446G>T (p.Ser1149Ile) c.3506G>T (p.Ser1169Ile) c.3452G>T (p.Ser1151Ile) c.3377G>T (p.Ser1126Ile) c.2972G>T (p.Ser991Ile) c.2330G>T (p.Ser777Ile) n.3755G>T | |
10 | g.71712762C>A | CA377144620 | C10orf105,CDH23 | c.3318C>A (p.Ser1106Arg) c.*3174G>T (n.*3174G>T) c.2749C>A c.3333C>A (p.Ser1111Arg) n.159C>A c.2093C>A c.3513C>A (p.Ser1171Arg) c.3447C>A (p.Ser1149Arg) c.3507C>A (p.Ser1169Arg) c.3453C>A (p.Ser1151Arg) c.3378C>A (p.Ser1126Arg) c.2973C>A (p.Ser991Arg) c.2331C>A (p.Ser777Arg) n.3756C>A | |
10 | g.71712762C>G | CA377144623 | C10orf105,CDH23 | c.3318C>G (p.Ser1106Arg) c.*3174G>C (n.*3174G>C) c.2749C>G c.3333C>G (p.Ser1111Arg) n.159C>G c.2093C>G c.3513C>G (p.Ser1171Arg) c.3447C>G (p.Ser1149Arg) c.3507C>G (p.Ser1169Arg) c.3453C>G (p.Ser1151Arg) c.3378C>G (p.Ser1126Arg) c.2973C>G (p.Ser991Arg) c.2331C>G (p.Ser777Arg) n.3756C>G | |
10 | g.71712762C>T | CA470063017 | C10orf105,CDH23 | c.3318C>T (p.Ser1106=) c.*3174G>A (n.*3174G>A) c.2749C>T c.3333C>T (p.Ser1111=) n.159C>T c.2093C>T c.3513C>T (p.Ser1171=) c.3447C>T (p.Ser1149=) c.3507C>T (p.Ser1169=) c.3453C>T (p.Ser1151=) c.3378C>T (p.Ser1126=) c.2973C>T (p.Ser991=) c.2331C>T (p.Ser777=) n.3756C>T | ClinVar dbSNP |
10 | g.71712763T>A | CA377144628 | C10orf105,CDH23 | c.3319T>A (p.Tyr1107Asn) c.*3173A>T (n.*3173A>T) c.2750T>A c.3334T>A (p.Tyr1112Asn) n.160T>A c.2094T>A c.3514T>A (p.Tyr1172Asn) c.3448T>A (p.Tyr1150Asn) c.3508T>A (p.Tyr1170Asn) c.3454T>A (p.Tyr1152Asn) c.3379T>A (p.Tyr1127Asn) c.2974T>A (p.Tyr992Asn) c.2332T>A (p.Tyr778Asn) n.3757T>A | |
10 | g.71712763T>C | CA377144629 | C10orf105,CDH23 | c.3319T>C (p.Tyr1107His) c.*3173A>G (n.*3173A>G) c.2750T>C c.3334T>C (p.Tyr1112His) n.160T>C c.2094T>C c.3514T>C (p.Tyr1172His) c.3448T>C (p.Tyr1150His) c.3508T>C (p.Tyr1170His) c.3454T>C (p.Tyr1152His) c.3379T>C (p.Tyr1127His) c.2974T>C (p.Tyr992His) c.2332T>C (p.Tyr778His) n.3757T>C | |
10 | g.71712763T>G | CA377144633 | C10orf105,CDH23 | c.3319T>G (p.Tyr1107Asp) c.*3173A>C (n.*3173A>C) c.2750T>G c.3334T>G (p.Tyr1112Asp) n.160T>G c.2094T>G c.3514T>G (p.Tyr1172Asp) c.3448T>G (p.Tyr1150Asp) c.3508T>G (p.Tyr1170Asp) c.3454T>G (p.Tyr1152Asp) c.3379T>G (p.Tyr1127Asp) c.2974T>G (p.Tyr992Asp) c.2332T>G (p.Tyr778Asp) n.3757T>G | |
10 | g.71712764A= | CA1918844472 | C10orf105,CDH23 | c.3320A= (p.Tyr1107=) c.*3172T= (n.*3172T=) c.2751A= c.3335A= (p.Tyr1112=) n.161A= c.2095A= c.3515A= (p.Tyr1172=) c.3449A= (p.Tyr1150=) c.3509A= (p.Tyr1170=) c.3455A= (p.Tyr1152=) c.3380A= (p.Tyr1127=) c.2975A= (p.Tyr992=) c.2333A= (p.Tyr778=) n.3758A= | |
10 | g.71712764A>C | CA377144639 | C10orf105,CDH23 | c.3320A>C (p.Tyr1107Ser) c.*3172T>G (n.*3172T>G) c.2751A>C c.3335A>C (p.Tyr1112Ser) n.161A>C c.2095A>C c.3515A>C (p.Tyr1172Ser) c.3449A>C (p.Tyr1150Ser) c.3509A>C (p.Tyr1170Ser) c.3455A>C (p.Tyr1152Ser) c.3380A>C (p.Tyr1127Ser) c.2975A>C (p.Tyr992Ser) c.2333A>C (p.Tyr778Ser) n.3758A>C | |
10 | g.71712764A>G | CA377144643 | C10orf105,CDH23 | c.3320A>G (p.Tyr1107Cys) c.*3172T>C (n.*3172T>C) c.2751A>G c.3335A>G (p.Tyr1112Cys) n.161A>G c.2095A>G c.3515A>G (p.Tyr1172Cys) c.3449A>G (p.Tyr1150Cys) c.3509A>G (p.Tyr1170Cys) c.3455A>G (p.Tyr1152Cys) c.3380A>G (p.Tyr1127Cys) c.2975A>G (p.Tyr992Cys) c.2333A>G (p.Tyr778Cys) n.3758A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.71712764A>T | CA377144636 | C10orf105,CDH23 | c.3320A>T (p.Tyr1107Phe) c.*3172T>A (n.*3172T>A) c.2751A>T c.3335A>T (p.Tyr1112Phe) n.161A>T c.2095A>T c.3515A>T (p.Tyr1172Phe) c.3449A>T (p.Tyr1150Phe) c.3509A>T (p.Tyr1170Phe) c.3455A>T (p.Tyr1152Phe) c.3380A>T (p.Tyr1127Phe) c.2975A>T (p.Tyr992Phe) c.2333A>T (p.Tyr778Phe) n.3758A>T | |
10 | g.71712765T>A | CA377144660 | C10orf105,CDH23 | c.3321T>A (p.Tyr1107Ter) c.*3171A>T (n.*3171A>T) c.2752T>A c.3336T>A (p.Tyr1112Ter) n.162T>A c.2096T>A c.3516T>A (p.Tyr1172Ter) c.3450T>A (p.Tyr1150Ter) c.3510T>A (p.Tyr1170Ter) c.3456T>A (p.Tyr1152Ter) c.3381T>A (p.Tyr1127Ter) c.2976T>A (p.Tyr992Ter) c.2334T>A (p.Tyr778Ter) n.3759T>A | ClinVar |
10 | g.71712765T>C | CA470063022 | C10orf105,CDH23 | c.3321T>C (p.Tyr1107=) c.*3171A>G (n.*3171A>G) c.2752T>C c.3336T>C (p.Tyr1112=) n.162T>C c.2096T>C c.3516T>C (p.Tyr1172=) c.3450T>C (p.Tyr1150=) c.3510T>C (p.Tyr1170=) c.3456T>C (p.Tyr1152=) c.3381T>C (p.Tyr1127=) c.2976T>C (p.Tyr992=) c.2334T>C (p.Tyr778=) n.3759T>C | |
10 | g.71712765T>G | CA377144663 | C10orf105,CDH23 | c.3321T>G (p.Tyr1107Ter) c.*3171A>C (n.*3171A>C) c.2752T>G c.3336T>G (p.Tyr1112Ter) n.162T>G c.2096T>G c.3516T>G (p.Tyr1172Ter) c.3450T>G (p.Tyr1150Ter) c.3510T>G (p.Tyr1170Ter) c.3456T>G (p.Tyr1152Ter) c.3381T>G (p.Tyr1127Ter) c.2976T>G (p.Tyr992Ter) c.2334T>G (p.Tyr778Ter) n.3759T>G | |
10 | g.71712766G>A | CA377144668 | C10orf105,CDH23 | c.3322G>A (p.Glu1108Lys) c.*3170C>T (n.*3170C>T) c.2753G>A c.3337G>A (p.Glu1113Lys) n.163G>A c.2097G>A c.3517G>A (p.Glu1173Lys) c.3451G>A (p.Glu1151Lys) c.3511G>A (p.Glu1171Lys) c.3457G>A (p.Glu1153Lys) c.3382G>A (p.Glu1128Lys) c.2977G>A (p.Glu993Lys) c.2335G>A (p.Glu779Lys) n.3760G>A | |
10 | g.71712766G>C | CA377144673 | C10orf105,CDH23 | c.3322G>C (p.Glu1108Gln) c.*3170C>G (n.*3170C>G) c.2753G>C c.3337G>C (p.Glu1113Gln) n.163G>C c.2097G>C c.3517G>C (p.Glu1173Gln) c.3451G>C (p.Glu1151Gln) c.3511G>C (p.Glu1171Gln) c.3457G>C (p.Glu1153Gln) c.3382G>C (p.Glu1128Gln) c.2977G>C (p.Glu993Gln) c.2335G>C (p.Glu779Gln) n.3760G>C | |
10 | g.71712766G>T | CA377144677 | C10orf105,CDH23 | c.3322G>T (p.Glu1108Ter) c.*3170C>A (n.*3170C>A) c.2753G>T c.3337G>T (p.Glu1113Ter) n.163G>T c.2097G>T c.3517G>T (p.Glu1173Ter) c.3451G>T (p.Glu1151Ter) c.3511G>T (p.Glu1171Ter) c.3457G>T (p.Glu1153Ter) c.3382G>T (p.Glu1128Ter) c.2977G>T (p.Glu993Ter) c.2335G>T (p.Glu779Ter) n.3760G>T | |
10 | g.71712767A>C | CA377144687 | C10orf105,CDH23 | c.3323A>C (p.Glu1108Ala) c.*3169T>G (n.*3169T>G) c.2754A>C c.3338A>C (p.Glu1113Ala) n.164A>C c.2098A>C c.3518A>C (p.Glu1173Ala) c.3452A>C (p.Glu1151Ala) c.3512A>C (p.Glu1171Ala) c.3458A>C (p.Glu1153Ala) c.3383A>C (p.Glu1128Ala) c.2978A>C (p.Glu993Ala) c.2336A>C (p.Glu779Ala) n.3761A>C | |
10 | g.71712767A>G | CA377144684 | C10orf105,CDH23 | c.3323A>G (p.Glu1108Gly) c.*3169T>C (n.*3169T>C) c.2754A>G c.3338A>G (p.Glu1113Gly) n.164A>G c.2098A>G c.3518A>G (p.Glu1173Gly) c.3452A>G (p.Glu1151Gly) c.3512A>G (p.Glu1171Gly) c.3458A>G (p.Glu1153Gly) c.3383A>G (p.Glu1128Gly) c.2978A>G (p.Glu993Gly) c.2336A>G (p.Glu779Gly) n.3761A>G | |
10 | g.71712767A>T | CA377144686 | C10orf105,CDH23 | c.3323A>T (p.Glu1108Val) c.*3169T>A (n.*3169T>A) c.2754A>T c.3338A>T (p.Glu1113Val) n.164A>T c.2098A>T c.3518A>T (p.Glu1173Val) c.3452A>T (p.Glu1151Val) c.3512A>T (p.Glu1171Val) c.3458A>T (p.Glu1153Val) c.3383A>T (p.Glu1128Val) c.2978A>T (p.Glu993Val) c.2336A>T (p.Glu779Val) n.3761A>T | |
10 | g.71712768G>A | CA470063047 | C10orf105,CDH23 | c.3324G>A (p.Glu1108=) c.*3168C>T (n.*3168C>T) c.2755G>A c.3339G>A (p.Glu1113=) n.165G>A c.2099G>A c.3519G>A (p.Glu1173=) c.3453G>A (p.Glu1151=) c.3513G>A (p.Glu1171=) c.3459G>A (p.Glu1153=) c.3384G>A (p.Glu1128=) c.2979G>A (p.Glu993=) c.2337G>A (p.Glu779=) n.3762G>A | ClinVar dbSNP gnomAD v4 |
10 | g.71712768G>C | CA377144693 | C10orf105,CDH23 | c.3324G>C (p.Glu1108Asp) c.*3168C>G (n.*3168C>G) c.2755G>C c.3339G>C (p.Glu1113Asp) n.165G>C c.2099G>C c.3519G>C (p.Glu1173Asp) c.3453G>C (p.Glu1151Asp) c.3513G>C (p.Glu1171Asp) c.3459G>C (p.Glu1153Asp) c.3384G>C (p.Glu1128Asp) c.2979G>C (p.Glu993Asp) c.2337G>C (p.Glu779Asp) n.3762G>C | |
10 | g.71712768G>T | CA377144697 | C10orf105,CDH23 | c.3324G>T (p.Glu1108Asp) c.*3168C>A (n.*3168C>A) c.2755G>T c.3339G>T (p.Glu1113Asp) n.165G>T c.2099G>T c.3519G>T (p.Glu1173Asp) c.3453G>T (p.Glu1151Asp) c.3513G>T (p.Glu1171Asp) c.3459G>T (p.Glu1153Asp) c.3384G>T (p.Glu1128Asp) c.2979G>T (p.Glu993Asp) c.2337G>T (p.Glu779Asp) n.3762G>T | |
10 | g.71712769G>A | CA377144702 | C10orf105,CDH23 | c.3325G>A (p.Ala1109Thr) c.*3167C>T (n.*3167C>T) c.2756G>A c.3340G>A (p.Ala1114Thr) n.166G>A c.2100G>A c.3520G>A (p.Ala1174Thr) c.3454G>A (p.Ala1152Thr) c.3514G>A (p.Ala1172Thr) c.3460G>A (p.Ala1154Thr) c.3385G>A (p.Ala1129Thr) c.2980G>A (p.Ala994Thr) c.2338G>A (p.Ala780Thr) n.3763G>A | |
10 | g.71712769G>C | CA377144705 | C10orf105,CDH23 | c.3325G>C (p.Ala1109Pro) c.*3167C>G (n.*3167C>G) c.2756G>C c.3340G>C (p.Ala1114Pro) n.166G>C c.2100G>C c.3520G>C (p.Ala1174Pro) c.3454G>C (p.Ala1152Pro) c.3514G>C (p.Ala1172Pro) c.3460G>C (p.Ala1154Pro) c.3385G>C (p.Ala1129Pro) c.2980G>C (p.Ala994Pro) c.2338G>C (p.Ala780Pro) n.3763G>C | |
10 | g.71712769G= | CA1918844477 | C10orf105,CDH23 | c.3325G= (p.Ala1109=) c.*3167C= (n.*3167C=) c.2756G= c.3340G= (p.Ala1114=) n.166G= c.2100G= c.3520G= (p.Ala1174=) c.3454G= (p.Ala1152=) c.3514G= (p.Ala1172=) c.3460G= (p.Ala1154=) c.3385G= (p.Ala1129=) c.2980G= (p.Ala994=) c.2338G= (p.Ala780=) n.3763G= | |
10 | g.71712769G>T | CA377144712 | C10orf105,CDH23 | c.3325G>T (p.Ala1109Ser) c.*3167C>A (n.*3167C>A) c.2756G>T c.3340G>T (p.Ala1114Ser) n.166G>T c.2100G>T c.3520G>T (p.Ala1174Ser) c.3454G>T (p.Ala1152Ser) c.3514G>T (p.Ala1172Ser) c.3460G>T (p.Ala1154Ser) c.3385G>T (p.Ala1129Ser) c.2980G>T (p.Ala994Ser) c.2338G>T (p.Ala780Ser) n.3763G>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712770C>A | CA377144716 | C10orf105,CDH23 | c.3326C>A (p.Ala1109Asp) c.*3166G>T (n.*3166G>T) c.2757C>A c.3341C>A (p.Ala1114Asp) n.167C>A c.2101C>A c.3521C>A (p.Ala1174Asp) c.3455C>A (p.Ala1152Asp) c.3515C>A (p.Ala1172Asp) c.3461C>A (p.Ala1154Asp) c.3386C>A (p.Ala1129Asp) c.2981C>A (p.Ala994Asp) c.2339C>A (p.Ala780Asp) n.3764C>A | gnomAD v4 |
10 | g.71712770C= | CA1918844480 | C10orf105,CDH23 | c.3326C= (p.Ala1109=) c.*3166G= (n.*3166G=) c.2757C= c.3341C= (p.Ala1114=) n.167C= c.2101C= c.3521C= (p.Ala1174=) c.3455C= (p.Ala1152=) c.3515C= (p.Ala1172=) c.3461C= (p.Ala1154=) c.3386C= (p.Ala1129=) c.2981C= (p.Ala994=) c.2339C= (p.Ala780=) n.3764C= | |
10 | g.71712770C>G | CA377144717 | C10orf105,CDH23 | c.3326C>G (p.Ala1109Gly) c.*3166G>C (n.*3166G>C) c.2757C>G c.3341C>G (p.Ala1114Gly) n.167C>G c.2101C>G c.3521C>G (p.Ala1174Gly) c.3455C>G (p.Ala1152Gly) c.3515C>G (p.Ala1172Gly) c.3461C>G (p.Ala1154Gly) c.3386C>G (p.Ala1129Gly) c.2981C>G (p.Ala994Gly) c.2339C>G (p.Ala780Gly) n.3764C>G | |
10 | g.71712770C>T | CA183948 | C10orf105,CDH23 | c.3326C>T (p.Ala1109Val) c.*3166G>A (n.*3166G>A) c.2757C>T c.3341C>T (p.Ala1114Val) n.167C>T c.2101C>T c.3521C>T (p.Ala1174Val) c.3455C>T (p.Ala1152Val) c.3515C>T (p.Ala1172Val) c.3461C>T (p.Ala1154Val) c.3386C>T (p.Ala1129Val) c.2981C>T (p.Ala994Val) c.2339C>T (p.Ala780Val) n.3764C>T | ClinVar dbSNP |
10 | g.71712771C>A | CA470063061 | C10orf105,CDH23 | c.3327C>A (p.Ala1109=) c.*3165G>T (n.*3165G>T) c.2758C>A c.3342C>A (p.Ala1114=) n.168C>A c.2102C>A c.3522C>A (p.Ala1174=) c.3456C>A (p.Ala1152=) c.3516C>A (p.Ala1172=) c.3462C>A (p.Ala1154=) c.3387C>A (p.Ala1129=) c.2982C>A (p.Ala994=) c.2340C>A (p.Ala780=) n.3765C>A | |
10 | g.71712771C= | CA1918844488 | C10orf105,CDH23 | c.3327C= (p.Ala1109=) c.*3165G= (n.*3165G=) c.2758C= c.3342C= (p.Ala1114=) n.168C= c.2102C= c.3522C= (p.Ala1174=) c.3456C= (p.Ala1152=) c.3516C= (p.Ala1172=) c.3462C= (p.Ala1154=) c.3387C= (p.Ala1129=) c.2982C= (p.Ala994=) c.2340C= (p.Ala780=) n.3765C= | |
10 | g.71712771C>G | CA470063063 | C10orf105,CDH23 | c.3327C>G (p.Ala1109=) c.*3165G>C (n.*3165G>C) c.2758C>G c.3342C>G (p.Ala1114=) n.168C>G c.2102C>G c.3522C>G (p.Ala1174=) c.3456C>G (p.Ala1152=) c.3516C>G (p.Ala1172=) c.3462C>G (p.Ala1154=) c.3387C>G (p.Ala1129=) c.2982C>G (p.Ala994=) c.2340C>G (p.Ala780=) n.3765C>G | |
10 | g.71712771C>T | CA470063065 | C10orf105,CDH23 | c.3327C>T (p.Ala1109=) c.*3165G>A (n.*3165G>A) c.2758C>T c.3342C>T (p.Ala1114=) n.168C>T c.2102C>T c.3522C>T (p.Ala1174=) c.3456C>T (p.Ala1152=) c.3516C>T (p.Ala1172=) c.3462C>T (p.Ala1154=) c.3387C>T (p.Ala1129=) c.2982C>T (p.Ala994=) c.2340C>T (p.Ala780=) n.3765C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712772A= | CA1918844493 | C10orf105,CDH23 | c.3328A= (p.Ser1110=) c.*3164T= (n.*3164T=) c.2759A= c.3343A= (p.Ser1115=) n.169A= c.2103A= c.3523A= (p.Ser1175=) c.3457A= (p.Ser1153=) c.3517A= (p.Ser1173=) c.3463A= (p.Ser1155=) c.3388A= (p.Ser1130=) c.2983A= (p.Ser995=) c.2341A= (p.Ser781=) n.3766A= | |
10 | g.71712772A>C | CA377144718 | C10orf105,CDH23 | c.3328A>C (p.Ser1110Arg) c.*3164T>G (n.*3164T>G) c.2759A>C c.3343A>C (p.Ser1115Arg) n.169A>C c.2103A>C c.3523A>C (p.Ser1175Arg) c.3457A>C (p.Ser1153Arg) c.3517A>C (p.Ser1173Arg) c.3463A>C (p.Ser1155Arg) c.3388A>C (p.Ser1130Arg) c.2983A>C (p.Ser995Arg) c.2341A>C (p.Ser781Arg) n.3766A>C | |
10 | g.71712772A>G | CA5544551 | C10orf105,CDH23 | c.3328A>G (p.Ser1110Gly) c.*3164T>C (n.*3164T>C) c.2759A>G c.3343A>G (p.Ser1115Gly) n.169A>G c.2103A>G c.3523A>G (p.Ser1175Gly) c.3457A>G (p.Ser1153Gly) c.3517A>G (p.Ser1173Gly) c.3463A>G (p.Ser1155Gly) c.3388A>G (p.Ser1130Gly) c.2983A>G (p.Ser995Gly) c.2341A>G (p.Ser781Gly) n.3766A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712772A>T | CA377144720 | C10orf105,CDH23 | c.3328A>T (p.Ser1110Cys) c.*3164T>A (n.*3164T>A) c.2759A>T c.3343A>T (p.Ser1115Cys) n.169A>T c.2103A>T c.3523A>T (p.Ser1175Cys) c.3457A>T (p.Ser1153Cys) c.3517A>T (p.Ser1173Cys) c.3463A>T (p.Ser1155Cys) c.3388A>T (p.Ser1130Cys) c.2983A>T (p.Ser995Cys) c.2341A>T (p.Ser781Cys) n.3766A>T | |
10 | g.71712773G>A | CA377144724 | C10orf105,CDH23 | c.3329G>A (p.Ser1110Asn) c.*3163C>T (n.*3163C>T) c.2760G>A c.3344G>A (p.Ser1115Asn) n.170G>A c.2104G>A c.3524G>A (p.Ser1175Asn) c.3458G>A (p.Ser1153Asn) c.3518G>A (p.Ser1173Asn) c.3464G>A (p.Ser1155Asn) c.3389G>A (p.Ser1130Asn) c.2984G>A (p.Ser995Asn) c.2342G>A (p.Ser781Asn) n.3767G>A | gnomAD v4 |
10 | g.71712773G>C | CA377144726 | C10orf105,CDH23 | c.3329G>C (p.Ser1110Thr) c.*3163C>G (n.*3163C>G) c.2760G>C c.3344G>C (p.Ser1115Thr) n.170G>C c.2104G>C c.3524G>C (p.Ser1175Thr) c.3458G>C (p.Ser1153Thr) c.3518G>C (p.Ser1173Thr) c.3464G>C (p.Ser1155Thr) c.3389G>C (p.Ser1130Thr) c.2984G>C (p.Ser995Thr) c.2342G>C (p.Ser781Thr) n.3767G>C | |
10 | g.71712773G>T | CA377144728 | C10orf105,CDH23 | c.3329G>T (p.Ser1110Ile) c.*3163C>A (n.*3163C>A) c.2760G>T c.3344G>T (p.Ser1115Ile) n.170G>T c.2104G>T c.3524G>T (p.Ser1175Ile) c.3458G>T (p.Ser1153Ile) c.3518G>T (p.Ser1173Ile) c.3464G>T (p.Ser1155Ile) c.3389G>T (p.Ser1130Ile) c.2984G>T (p.Ser995Ile) c.2342G>T (p.Ser781Ile) n.3767G>T | |
10 | g.71712774C>A | CA377144729 | C10orf105,CDH23 | c.3330C>A (p.Ser1110Arg) c.*3162G>T (n.*3162G>T) c.2761C>A c.3345C>A (p.Ser1115Arg) n.171C>A c.2105C>A c.3525C>A (p.Ser1175Arg) c.3459C>A (p.Ser1153Arg) c.3519C>A (p.Ser1173Arg) c.3465C>A (p.Ser1155Arg) c.3390C>A (p.Ser1130Arg) c.2985C>A (p.Ser995Arg) c.2343C>A (p.Ser781Arg) n.3768C>A | |
10 | g.71712774C= | CA1918844497 | C10orf105,CDH23 | c.3330C= (p.Ser1110=) c.*3162G= (n.*3162G=) c.2761C= c.3345C= (p.Ser1115=) n.171C= c.2105C= c.3525C= (p.Ser1175=) c.3459C= (p.Ser1153=) c.3519C= (p.Ser1173=) c.3465C= (p.Ser1155=) c.3390C= (p.Ser1130=) c.2985C= (p.Ser995=) c.2343C= (p.Ser781=) n.3768C= | |
10 | g.71712774C>G | CA5544552 | C10orf105,CDH23 | c.3330C>G (p.Ser1110Arg) c.*3162G>C (n.*3162G>C) c.2761C>G c.3345C>G (p.Ser1115Arg) n.171C>G c.2105C>G c.3525C>G (p.Ser1175Arg) c.3459C>G (p.Ser1153Arg) c.3519C>G (p.Ser1173Arg) c.3465C>G (p.Ser1155Arg) c.3390C>G (p.Ser1130Arg) c.2985C>G (p.Ser995Arg) c.2343C>G (p.Ser781Arg) n.3768C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712774C>T | CA5544553 | C10orf105,CDH23 | c.3330C>T (p.Ser1110=) c.*3162G>A (n.*3162G>A) c.2761C>T c.3345C>T (p.Ser1115=) n.171C>T c.2105C>T c.3525C>T (p.Ser1175=) c.3459C>T (p.Ser1153=) c.3519C>T (p.Ser1173=) c.3465C>T (p.Ser1155=) c.3390C>T (p.Ser1130=) c.2985C>T (p.Ser995=) c.2343C>T (p.Ser781=) n.3768C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712775G>A | CA137366 | C10orf105,CDH23 | c.3331G>A (p.Val1111Ile) c.*3161C>T (n.*3161C>T) c.2762G>A c.3346G>A (p.Val1116Ile) n.172G>A c.2106G>A c.3526G>A (p.Val1176Ile) c.3460G>A (p.Val1154Ile) c.3520G>A (p.Val1174Ile) c.3466G>A (p.Val1156Ile) c.3391G>A (p.Val1131Ile) c.2986G>A (p.Val996Ile) c.2344G>A (p.Val782Ile) n.3769G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.71712775G>C | CA377144746 | C10orf105,CDH23 | c.3331G>C (p.Val1111Leu) c.*3161C>G (n.*3161C>G) c.2762G>C c.3346G>C (p.Val1116Leu) n.172G>C c.2106G>C c.3526G>C (p.Val1176Leu) c.3460G>C (p.Val1154Leu) c.3520G>C (p.Val1174Leu) c.3466G>C (p.Val1156Leu) c.3391G>C (p.Val1131Leu) c.2986G>C (p.Val996Leu) c.2344G>C (p.Val782Leu) n.3769G>C | |
10 | g.71712775G= | CA1918844505 | C10orf105,CDH23 | c.3331G= (p.Val1111=) c.*3161C= (n.*3161C=) c.2762G= c.3346G= (p.Val1116=) n.172G= c.2106G= c.3526G= (p.Val1176=) c.3460G= (p.Val1154=) c.3520G= (p.Val1174=) c.3466G= (p.Val1156=) c.3391G= (p.Val1131=) c.2986G= (p.Val996=) c.2344G= (p.Val782=) n.3769G= | |
10 | g.71712775G>T | CA5544554 | C10orf105,CDH23 | c.3331G>T (p.Val1111Phe) c.*3161C>A (n.*3161C>A) c.2762G>T c.3346G>T (p.Val1116Phe) n.172G>T c.2106G>T c.3526G>T (p.Val1176Phe) c.3460G>T (p.Val1154Phe) c.3520G>T (p.Val1174Phe) c.3466G>T (p.Val1156Phe) c.3391G>T (p.Val1131Phe) c.2986G>T (p.Val996Phe) c.2344G>T (p.Val782Phe) n.3769G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71712776T>A | CA377144766 | C10orf105,CDH23 | c.3332T>A (p.Val1111Asp) c.*3160A>T (n.*3160A>T) c.2763T>A c.3347T>A (p.Val1116Asp) n.173T>A c.2107T>A c.3527T>A (p.Val1176Asp) c.3461T>A (p.Val1154Asp) c.3521T>A (p.Val1174Asp) c.3467T>A (p.Val1156Asp) c.3392T>A (p.Val1131Asp) c.2987T>A (p.Val996Asp) c.2345T>A (p.Val782Asp) n.3770T>A | |
10 | g.71712776T>C | CA377144763 | C10orf105,CDH23 | c.3332T>C (p.Val1111Ala) c.*3160A>G (n.*3160A>G) c.2763T>C c.3347T>C (p.Val1116Ala) n.173T>C c.2107T>C c.3527T>C (p.Val1176Ala) c.3461T>C (p.Val1154Ala) c.3521T>C (p.Val1174Ala) c.3467T>C (p.Val1156Ala) c.3392T>C (p.Val1131Ala) c.2987T>C (p.Val996Ala) c.2345T>C (p.Val782Ala) n.3770T>C | |
10 | g.71712776T>G | CA377144761 | C10orf105,CDH23 | c.3332T>G (p.Val1111Gly) c.*3160A>C (n.*3160A>C) c.2763T>G c.3347T>G (p.Val1116Gly) n.173T>G c.2107T>G c.3527T>G (p.Val1176Gly) c.3461T>G (p.Val1154Gly) c.3521T>G (p.Val1174Gly) c.3467T>G (p.Val1156Gly) c.3392T>G (p.Val1131Gly) c.2987T>G (p.Val996Gly) c.2345T>G (p.Val782Gly) n.3770T>G | |
10 | g.71712777C>A | CA470063089 | C10orf105,CDH23 | c.3333C>A (p.Val1111=) c.*3159G>T (n.*3159G>T) c.2764C>A c.3348C>A (p.Val1116=) n.174C>A c.2108C>A c.3528C>A (p.Val1176=) c.3462C>A (p.Val1154=) c.3522C>A (p.Val1174=) c.3468C>A (p.Val1156=) c.3393C>A (p.Val1131=) c.2988C>A (p.Val996=) c.2346C>A (p.Val782=) n.3771C>A | |
10 | g.71712777C>G | CA470063091 | C10orf105,CDH23 | c.3333C>G (p.Val1111=) c.*3159G>C (n.*3159G>C) c.2764C>G c.3348C>G (p.Val1116=) n.174C>G c.2108C>G c.3528C>G (p.Val1176=) c.3462C>G (p.Val1154=) c.3522C>G (p.Val1174=) c.3468C>G (p.Val1156=) c.3393C>G (p.Val1131=) c.2988C>G (p.Val996=) c.2346C>G (p.Val782=) n.3771C>G | |
10 | g.71712777C>T | CA470063092 | C10orf105,CDH23 | c.3333C>T (p.Val1111=) c.*3159G>A (n.*3159G>A) c.2764C>T c.3348C>T (p.Val1116=) n.174C>T c.2108C>T c.3528C>T (p.Val1176=) c.3462C>T (p.Val1154=) c.3522C>T (p.Val1174=) c.3468C>T (p.Val1156=) c.3393C>T (p.Val1131=) c.2988C>T (p.Val996=) c.2346C>T (p.Val782=) n.3771C>T | gnomAD v4 |
10 | g.71712778C>A | CA377144774 | C10orf105,CDH23 | c.3334C>A (p.Pro1112Thr) c.*3158G>T (n.*3158G>T) c.2765C>A c.3349C>A (p.Pro1117Thr) n.175C>A c.2109C>A c.3529C>A (p.Pro1177Thr) c.3463C>A (p.Pro1155Thr) c.3523C>A (p.Pro1175Thr) c.3469C>A (p.Pro1157Thr) c.3394C>A (p.Pro1132Thr) c.2989C>A (p.Pro997Thr) c.2347C>A (p.Pro783Thr) n.3772C>A | COSMIC COSMIC |
10 | g.71712778C>G | CA377144770 | C10orf105,CDH23 | c.3334C>G (p.Pro1112Ala) c.*3158G>C (n.*3158G>C) c.2765C>G c.3349C>G (p.Pro1117Ala) n.175C>G c.2109C>G c.3529C>G (p.Pro1177Ala) c.3463C>G (p.Pro1155Ala) c.3523C>G (p.Pro1175Ala) c.3469C>G (p.Pro1157Ala) c.3394C>G (p.Pro1132Ala) c.2989C>G (p.Pro997Ala) c.2347C>G (p.Pro783Ala) n.3772C>G | |
10 | g.71712778C>T | CA377144776 | C10orf105,CDH23 | c.3334C>T (p.Pro1112Ser) c.*3158G>A (n.*3158G>A) c.2765C>T c.3349C>T (p.Pro1117Ser) n.175C>T c.2109C>T c.3529C>T (p.Pro1177Ser) c.3463C>T (p.Pro1155Ser) c.3523C>T (p.Pro1175Ser) c.3469C>T (p.Pro1157Ser) c.3394C>T (p.Pro1132Ser) c.2989C>T (p.Pro997Ser) c.2347C>T (p.Pro783Ser) n.3772C>T | |
10 | g.71712779C>A | CA377144784 | C10orf105,CDH23 | c.3335C>A (p.Pro1112His) c.*3157G>T (n.*3157G>T) c.2766C>A c.3350C>A (p.Pro1117His) n.176C>A c.2110C>A c.3530C>A (p.Pro1177His) c.3464C>A (p.Pro1155His) c.3524C>A (p.Pro1175His) c.3470C>A (p.Pro1157His) c.3395C>A (p.Pro1132His) c.2990C>A (p.Pro997His) c.2348C>A (p.Pro783His) n.3773C>A | |
10 | g.71712779C>G | CA377144785 | C10orf105,CDH23 | c.3335C>G (p.Pro1112Arg) c.*3157G>C (n.*3157G>C) c.2766C>G c.3350C>G (p.Pro1117Arg) n.176C>G c.2110C>G c.3530C>G (p.Pro1177Arg) c.3464C>G (p.Pro1155Arg) c.3524C>G (p.Pro1175Arg) c.3470C>G (p.Pro1157Arg) c.3395C>G (p.Pro1132Arg) c.2990C>G (p.Pro997Arg) c.2348C>G (p.Pro783Arg) n.3773C>G | |
10 | g.71712779C>T | CA377144786 | C10orf105,CDH23 | c.3335C>T (p.Pro1112Leu) c.*3157G>A (n.*3157G>A) c.2766C>T c.3350C>T (p.Pro1117Leu) n.176C>T c.2110C>T c.3530C>T (p.Pro1177Leu) c.3464C>T (p.Pro1155Leu) c.3524C>T (p.Pro1175Leu) c.3470C>T (p.Pro1157Leu) c.3395C>T (p.Pro1132Leu) c.2990C>T (p.Pro997Leu) c.2348C>T (p.Pro783Leu) n.3773C>T | |
10 | g.71712779_71712781del | CA2788479686 | C10orf105,CDH23 | c.3335_3337del (p.Pro1112_Glu1113delinsGln) c.*3155_*3157del (n.*3155_*3157del) c.2766_2768del c.3350_3352del (p.Pro1117_Glu1118delinsGln) n.176_178del c.2110_2112del c.3530_3532del (p.Pro1177_Glu1178delinsGln) c.3464_3466del (p.Pro1155_Glu1156delinsGln) c.3524_3526del (p.Pro1175_Glu1176delinsGln) c.3470_3472del (p.Pro1157_Glu1158delinsGln) c.3395_3397del (p.Pro1132_Glu1133delinsGln) c.2990_2992del (p.Pro997_Glu998delinsGln) c.2348_2350del (p.Pro783_Glu784delinsGln) n.3773_3775del | |
10 | g.71712780T>A | CA470063107 | C10orf105,CDH23 | c.3336T>A (p.Pro1112=) c.*3156A>T (n.*3156A>T) c.2767T>A c.3351T>A (p.Pro1117=) n.177T>A c.2111T>A c.3531T>A (p.Pro1177=) c.3465T>A (p.Pro1155=) c.3525T>A (p.Pro1175=) c.3471T>A (p.Pro1157=) c.3396T>A (p.Pro1132=) c.2991T>A (p.Pro997=) c.2349T>A (p.Pro783=) n.3774T>A | |
10 | g.71712780T>C | CA470063105 | C10orf105,CDH23 | c.3336T>C (p.Pro1112=) c.*3156A>G (n.*3156A>G) c.2767T>C c.3351T>C (p.Pro1117=) n.177T>C c.2111T>C c.3531T>C (p.Pro1177=) c.3465T>C (p.Pro1155=) c.3525T>C (p.Pro1175=) c.3471T>C (p.Pro1157=) c.3396T>C (p.Pro1132=) c.2991T>C (p.Pro997=) c.2349T>C (p.Pro783=) n.3774T>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712780T>G | CA470063104 | C10orf105,CDH23 | c.3336T>G (p.Pro1112=) c.*3156A>C (n.*3156A>C) c.2767T>G c.3351T>G (p.Pro1117=) n.177T>G c.2111T>G c.3531T>G (p.Pro1177=) c.3465T>G (p.Pro1155=) c.3525T>G (p.Pro1175=) c.3471T>G (p.Pro1157=) c.3396T>G (p.Pro1132=) c.2991T>G (p.Pro997=) c.2349T>G (p.Pro783=) n.3774T>G | |
10 | g.71712780T= | CA1918844512 | C10orf105,CDH23 | c.3336T= (p.Pro1112=) c.*3156A= (n.*3156A=) c.2767T= c.3351T= (p.Pro1117=) n.177T= c.2111T= c.3531T= (p.Pro1177=) c.3465T= (p.Pro1155=) c.3525T= (p.Pro1175=) c.3471T= (p.Pro1157=) c.3396T= (p.Pro1132=) c.2991T= (p.Pro997=) c.2349T= (p.Pro783=) n.3774T= | |
10 | g.71712781G>A | CA377144787 | C10orf105,CDH23 | c.3337G>A (p.Glu1113Lys) c.*3155C>T (n.*3155C>T) c.2768G>A c.3352G>A (p.Glu1118Lys) n.178G>A c.2112G>A c.3532G>A (p.Glu1178Lys) c.3466G>A (p.Glu1156Lys) c.3526G>A (p.Glu1176Lys) c.3472G>A (p.Glu1158Lys) c.3397G>A (p.Glu1133Lys) c.2992G>A (p.Glu998Lys) c.2350G>A (p.Glu784Lys) n.3775G>A | |
10 | g.71712781G>C | CA137368 | C10orf105,CDH23 | c.3337G>C (p.Glu1113Gln) c.*3155C>G (n.*3155C>G) c.2768G>C c.3352G>C (p.Glu1118Gln) n.178G>C c.2112G>C c.3532G>C (p.Glu1178Gln) c.3466G>C (p.Glu1156Gln) c.3526G>C (p.Glu1176Gln) c.3472G>C (p.Glu1158Gln) c.3397G>C (p.Glu1133Gln) c.2992G>C (p.Glu998Gln) c.2350G>C (p.Glu784Gln) n.3775G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712781G= | CA1918844519 | C10orf105,CDH23 | c.3337G= (p.Glu1113=) c.*3155C= (n.*3155C=) c.2768G= c.3352G= (p.Glu1118=) n.178G= c.2112G= c.3532G= (p.Glu1178=) c.3466G= (p.Glu1156=) c.3526G= (p.Glu1176=) c.3472G= (p.Glu1158=) c.3397G= (p.Glu1133=) c.2992G= (p.Glu998=) c.2350G= (p.Glu784=) n.3775G= | |
10 | g.71712781G>T | CA377144792 | C10orf105,CDH23 | c.3337G>T (p.Glu1113Ter) c.*3155C>A (n.*3155C>A) c.2768G>T c.3352G>T (p.Glu1118Ter) n.178G>T c.2112G>T c.3532G>T (p.Glu1178Ter) c.3466G>T (p.Glu1156Ter) c.3526G>T (p.Glu1176Ter) c.3472G>T (p.Glu1158Ter) c.3397G>T (p.Glu1133Ter) c.2992G>T (p.Glu998Ter) c.2350G>T (p.Glu784Ter) n.3775G>T | |
10 | g.71712782A>C | CA377144798 | C10orf105,CDH23 | c.3338A>C (p.Glu1113Ala) c.*3154T>G (n.*3154T>G) c.2769A>C c.3353A>C (p.Glu1118Ala) n.179A>C c.2113A>C c.3533A>C (p.Glu1178Ala) c.3467A>C (p.Glu1156Ala) c.3527A>C (p.Glu1176Ala) c.3473A>C (p.Glu1158Ala) c.3398A>C (p.Glu1133Ala) c.2993A>C (p.Glu998Ala) c.2351A>C (p.Glu784Ala) n.3776A>C | |
10 | g.71712782A>G | CA377144803 | C10orf105,CDH23 | c.3338A>G (p.Glu1113Gly) c.*3154T>C (n.*3154T>C) c.2769A>G c.3353A>G (p.Glu1118Gly) n.179A>G c.2113A>G c.3533A>G (p.Glu1178Gly) c.3467A>G (p.Glu1156Gly) c.3527A>G (p.Glu1176Gly) c.3473A>G (p.Glu1158Gly) c.3398A>G (p.Glu1133Gly) c.2993A>G (p.Glu998Gly) c.2351A>G (p.Glu784Gly) n.3776A>G | |
10 | g.71712782A>T | CA377144804 | C10orf105,CDH23 | c.3338A>T (p.Glu1113Val) c.*3154T>A (n.*3154T>A) c.2769A>T c.3353A>T (p.Glu1118Val) n.179A>T c.2113A>T c.3533A>T (p.Glu1178Val) c.3467A>T (p.Glu1156Val) c.3527A>T (p.Glu1176Val) c.3473A>T (p.Glu1158Val) c.3398A>T (p.Glu1133Val) c.2993A>T (p.Glu998Val) c.2351A>T (p.Glu784Val) n.3776A>T | |
10 | g.71712782_71712783delinsAG | CA1918844528 | C10orf105,CDH23 | c.3338_3339delinsAG (p.Glu1113=) c.*3153_*3154delinsCT (n.*3153_*3154delinsCT) c.2769_2770delinsAG c.3353_3354delinsAG (p.Glu1118=) n.179_180delinsAG c.2113_2114delinsAG c.3533_3534delinsAG (p.Glu1178=) c.3467_3468delinsAG (p.Glu1156=) c.3527_3528delinsAG (p.Glu1176=) c.3473_3474delinsAG (p.Glu1158=) c.3398_3399delinsAG (p.Glu1133=) c.2993_2994delinsAG (p.Glu998=) c.2351_2352delinsAG (p.Glu784=) n.3776_3777delinsAG | |
10 | g.71712783G>A | CA470063124 | C10orf105,CDH23 | c.3339G>A (p.Glu1113=) c.*3153C>T (n.*3153C>T) c.2770G>A c.3354G>A (p.Glu1118=) n.180G>A c.2114G>A c.3534G>A (p.Glu1178=) c.3468G>A (p.Glu1156=) c.3528G>A (p.Glu1176=) c.3474G>A (p.Glu1158=) c.3399G>A (p.Glu1133=) c.2994G>A (p.Glu998=) c.2352G>A (p.Glu784=) n.3777G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712783G>C | CA377144816 | C10orf105,CDH23 | c.3339G>C (p.Glu1113Asp) c.*3153C>G (n.*3153C>G) c.2770G>C c.3354G>C (p.Glu1118Asp) n.180G>C c.2114G>C c.3534G>C (p.Glu1178Asp) c.3468G>C (p.Glu1156Asp) c.3528G>C (p.Glu1176Asp) c.3474G>C (p.Glu1158Asp) c.3399G>C (p.Glu1133Asp) c.2994G>C (p.Glu998Asp) c.2352G>C (p.Glu784Asp) n.3777G>C | |
10 | g.71712783G= | CA1918844530 | C10orf105,CDH23 | c.3339G= (p.Glu1113=) c.*3153C= (n.*3153C=) c.2770G= c.3354G= (p.Glu1118=) n.180G= c.2114G= c.3534G= (p.Glu1178=) c.3468G= (p.Glu1156=) c.3528G= (p.Glu1176=) c.3474G= (p.Glu1158=) c.3399G= (p.Glu1133=) c.2994G= (p.Glu998=) c.2352G= (p.Glu784=) n.3777G= | |
10 | g.71712783G>T | CA377144822 | C10orf105,CDH23 | c.3339G>T (p.Glu1113Asp) c.*3153C>A (n.*3153C>A) c.2770G>T c.3354G>T (p.Glu1118Asp) n.180G>T c.2114G>T c.3534G>T (p.Glu1178Asp) c.3468G>T (p.Glu1156Asp) c.3528G>T (p.Glu1176Asp) c.3474G>T (p.Glu1158Asp) c.3399G>T (p.Glu1133Asp) c.2994G>T (p.Glu998Asp) c.2352G>T (p.Glu784Asp) n.3777G>T | |
10 | g.71712784del | CA5544555 | C10orf105,CDH23 | c.3340del (p.Asp1114ThrfsTer11) c.3340del (p.Asp1114ThrfsTer?) c.*3153del (n.*3153del) c.2771del c.3355del (p.Asp1119ThrfsTer11) n.181del c.2115del c.3535del (p.Asp1179ThrfsTer11) c.3469del (p.Asp1157ThrfsTer11) c.3529del (p.Asp1177ThrfsTer11) c.3475del (p.Asp1159ThrfsTer11) c.3400del (p.Asp1134ThrfsTer11) c.2995del (p.Asp999ThrfsTer11) c.2353del (p.Asp785ThrfsTer11) n.3778del | dbSNP ExAC gnomAD v2 |
10 | g.71712784G>A | CA377144845 | C10orf105,CDH23 | c.3340G>A (p.Asp1114Asn) c.*3152C>T (n.*3152C>T) c.2771G>A c.3355G>A (p.Asp1119Asn) n.181G>A c.2115G>A c.3535G>A (p.Asp1179Asn) c.3469G>A (p.Asp1157Asn) c.3529G>A (p.Asp1177Asn) c.3475G>A (p.Asp1159Asn) c.3400G>A (p.Asp1134Asn) c.2995G>A (p.Asp999Asn) c.2353G>A (p.Asp785Asn) n.3778G>A | |
10 | g.71712784G>C | CA377144840 | C10orf105,CDH23 | c.3340G>C (p.Asp1114His) c.*3152C>G (n.*3152C>G) c.2771G>C c.3355G>C (p.Asp1119His) n.181G>C c.2115G>C c.3535G>C (p.Asp1179His) c.3469G>C (p.Asp1157His) c.3529G>C (p.Asp1177His) c.3475G>C (p.Asp1159His) c.3400G>C (p.Asp1134His) c.2995G>C (p.Asp999His) c.2353G>C (p.Asp785His) n.3778G>C | gnomAD v4 |
10 | g.71712784G>T | CA377144836 | C10orf105,CDH23 | c.3340G>T (p.Asp1114Tyr) c.*3152C>A (n.*3152C>A) c.2771G>T c.3355G>T (p.Asp1119Tyr) n.181G>T c.2115G>T c.3535G>T (p.Asp1179Tyr) c.3469G>T (p.Asp1157Tyr) c.3529G>T (p.Asp1177Tyr) c.3475G>T (p.Asp1159Tyr) c.3400G>T (p.Asp1134Tyr) c.2995G>T (p.Asp999Tyr) c.2353G>T (p.Asp785Tyr) n.3778G>T | |
10 | g.71712785A>C | CA377144848 | C10orf105,CDH23 | c.3341A>C (p.Asp1114Ala) c.*3151T>G (n.*3151T>G) c.2772A>C c.3356A>C (p.Asp1119Ala) n.182A>C c.2116A>C c.3536A>C (p.Asp1179Ala) c.3470A>C (p.Asp1157Ala) c.3530A>C (p.Asp1177Ala) c.3476A>C (p.Asp1159Ala) c.3401A>C (p.Asp1134Ala) c.2996A>C (p.Asp999Ala) c.2354A>C (p.Asp785Ala) n.3779A>C | |
10 | g.71712785A>G | CA377144851 | C10orf105,CDH23 | c.3341A>G (p.Asp1114Gly) c.*3151T>C (n.*3151T>C) c.2772A>G c.3356A>G (p.Asp1119Gly) n.182A>G c.2116A>G c.3536A>G (p.Asp1179Gly) c.3470A>G (p.Asp1157Gly) c.3530A>G (p.Asp1177Gly) c.3476A>G (p.Asp1159Gly) c.3401A>G (p.Asp1134Gly) c.2996A>G (p.Asp999Gly) c.2354A>G (p.Asp785Gly) n.3779A>G | |
10 | g.71712785A>T | CA377144854 | C10orf105,CDH23 | c.3341A>T (p.Asp1114Val) c.*3151T>A (n.*3151T>A) c.2772A>T c.3356A>T (p.Asp1119Val) n.182A>T c.2116A>T c.3536A>T (p.Asp1179Val) c.3470A>T (p.Asp1157Val) c.3530A>T (p.Asp1177Val) c.3476A>T (p.Asp1159Val) c.3401A>T (p.Asp1134Val) c.2996A>T (p.Asp999Val) c.2354A>T (p.Asp785Val) n.3779A>T | |
10 | g.71712786C>A | CA377144858 | C10orf105,CDH23 | c.3342C>A (p.Asp1114Glu) c.*3150G>T (n.*3150G>T) c.2773C>A c.3357C>A (p.Asp1119Glu) n.183C>A c.2117C>A c.3537C>A (p.Asp1179Glu) c.3471C>A (p.Asp1157Glu) c.3531C>A (p.Asp1177Glu) c.3477C>A (p.Asp1159Glu) c.3402C>A (p.Asp1134Glu) c.2997C>A (p.Asp999Glu) c.2355C>A (p.Asp785Glu) n.3780C>A | |
10 | g.71712786C= | CA1918844534 | C10orf105,CDH23 | c.3342C= (p.Asp1114=) c.*3150G= (n.*3150G=) c.2773C= c.3357C= (p.Asp1119=) n.183C= c.2117C= c.3537C= (p.Asp1179=) c.3471C= (p.Asp1157=) c.3531C= (p.Asp1177=) c.3477C= (p.Asp1159=) c.3402C= (p.Asp1134=) c.2997C= (p.Asp999=) c.2355C= (p.Asp785=) n.3780C= | |
10 | g.71712786C>G | CA377144860 | C10orf105,CDH23 | c.3342C>G (p.Asp1114Glu) c.*3150G>C (n.*3150G>C) c.2773C>G c.3357C>G (p.Asp1119Glu) n.183C>G c.2117C>G c.3537C>G (p.Asp1179Glu) c.3471C>G (p.Asp1157Glu) c.3531C>G (p.Asp1177Glu) c.3477C>G (p.Asp1159Glu) c.3402C>G (p.Asp1134Glu) c.2997C>G (p.Asp999Glu) c.2355C>G (p.Asp785Glu) n.3780C>G | |
10 | g.71712786C>T | CA470063138 | C10orf105,CDH23 | c.3342C>T (p.Asp1114=) c.*3150G>A (n.*3150G>A) c.2773C>T c.3357C>T (p.Asp1119=) n.183C>T c.2117C>T c.3537C>T (p.Asp1179=) c.3471C>T (p.Asp1157=) c.3531C>T (p.Asp1177=) c.3477C>T (p.Asp1159=) c.3402C>T (p.Asp1134=) c.2997C>T (p.Asp999=) c.2355C>T (p.Asp785=) n.3780C>T | ClinVar dbSNP |
10 | g.71712787A>C | CA377144863 | C10orf105,CDH23 | c.3343A>C (p.Ile1115Leu) c.*3149T>G (n.*3149T>G) c.2774A>C c.3358A>C (p.Ile1120Leu) n.184A>C c.2118A>C c.3538A>C (p.Ile1180Leu) c.3472A>C (p.Ile1158Leu) c.3532A>C (p.Ile1178Leu) c.3478A>C (p.Ile1160Leu) c.3403A>C (p.Ile1135Leu) c.2998A>C (p.Ile1000Leu) c.2356A>C (p.Ile786Leu) n.3781A>C | |
10 | g.71712787A>G | CA377144867 | C10orf105,CDH23 | c.3343A>G (p.Ile1115Val) c.*3149T>C (n.*3149T>C) c.2774A>G c.3358A>G (p.Ile1120Val) n.184A>G c.2118A>G c.3538A>G (p.Ile1180Val) c.3472A>G (p.Ile1158Val) c.3532A>G (p.Ile1178Val) c.3478A>G (p.Ile1160Val) c.3403A>G (p.Ile1135Val) c.2998A>G (p.Ile1000Val) c.2356A>G (p.Ile786Val) n.3781A>G | |
10 | g.71712787A>T | CA377144871 | C10orf105,CDH23 | c.3343A>T (p.Ile1115Phe) c.*3149T>A (n.*3149T>A) c.2774A>T c.3358A>T (p.Ile1120Phe) n.184A>T c.2118A>T c.3538A>T (p.Ile1180Phe) c.3472A>T (p.Ile1158Phe) c.3532A>T (p.Ile1178Phe) c.3478A>T (p.Ile1160Phe) c.3403A>T (p.Ile1135Phe) c.2998A>T (p.Ile1000Phe) c.2356A>T (p.Ile786Phe) n.3781A>T | |
10 | g.71712788T>A | CA377144872 | C10orf105,CDH23 | c.3344T>A (p.Ile1115Asn) c.*3148A>T (n.*3148A>T) c.2775T>A c.3359T>A (p.Ile1120Asn) n.185T>A c.2119T>A c.3539T>A (p.Ile1180Asn) c.3473T>A (p.Ile1158Asn) c.3533T>A (p.Ile1178Asn) c.3479T>A (p.Ile1160Asn) c.3404T>A (p.Ile1135Asn) c.2999T>A (p.Ile1000Asn) c.2357T>A (p.Ile786Asn) n.3782T>A | |
10 | g.71712788T>C | CA377144873 | C10orf105,CDH23 | c.3344T>C (p.Ile1115Thr) c.*3148A>G (n.*3148A>G) c.2775T>C c.3359T>C (p.Ile1120Thr) n.185T>C c.2119T>C c.3539T>C (p.Ile1180Thr) c.3473T>C (p.Ile1158Thr) c.3533T>C (p.Ile1178Thr) c.3479T>C (p.Ile1160Thr) c.3404T>C (p.Ile1135Thr) c.2999T>C (p.Ile1000Thr) c.2357T>C (p.Ile786Thr) n.3782T>C | |
10 | g.71712788T>G | CA377144885 | C10orf105,CDH23 | c.3344T>G (p.Ile1115Ser) c.*3148A>C (n.*3148A>C) c.2775T>G c.3359T>G (p.Ile1120Ser) n.185T>G c.2119T>G c.3539T>G (p.Ile1180Ser) c.3473T>G (p.Ile1158Ser) c.3533T>G (p.Ile1178Ser) c.3479T>G (p.Ile1160Ser) c.3404T>G (p.Ile1135Ser) c.2999T>G (p.Ile1000Ser) c.2357T>G (p.Ile786Ser) n.3782T>G | |
10 | g.71712789C>A | CA470063146 | C10orf105,CDH23 | c.3345C>A (p.Ile1115=) c.*3147G>T (n.*3147G>T) c.2776C>A c.3360C>A (p.Ile1120=) n.186C>A c.2120C>A c.3540C>A (p.Ile1180=) c.3474C>A (p.Ile1158=) c.3534C>A (p.Ile1178=) c.3480C>A (p.Ile1160=) c.3405C>A (p.Ile1135=) c.3000C>A (p.Ile1000=) c.2358C>A (p.Ile786=) n.3783C>A | |
10 | g.71712789C= | CA1918844541 | C10orf105,CDH23 | c.3345C= (p.Ile1115=) c.*3147G= (n.*3147G=) c.2776C= c.3360C= (p.Ile1120=) n.186C= c.2120C= c.3540C= (p.Ile1180=) c.3474C= (p.Ile1158=) c.3534C= (p.Ile1178=) c.3480C= (p.Ile1160=) c.3405C= (p.Ile1135=) c.3000C= (p.Ile1000=) c.2358C= (p.Ile786=) n.3783C= | |
10 | g.71712789C>G | CA377144891 | C10orf105,CDH23 | c.3345C>G (p.Ile1115Met) c.*3147G>C (n.*3147G>C) c.2776C>G c.3360C>G (p.Ile1120Met) n.186C>G c.2120C>G c.3540C>G (p.Ile1180Met) c.3474C>G (p.Ile1158Met) c.3534C>G (p.Ile1178Met) c.3480C>G (p.Ile1160Met) c.3405C>G (p.Ile1135Met) c.3000C>G (p.Ile1000Met) c.2358C>G (p.Ile786Met) n.3783C>G | dbSNP |
10 | g.71712789C>T | CA470063149 | C10orf105,CDH23 | c.3345C>T (p.Ile1115=) c.*3147G>A (n.*3147G>A) c.2776C>T c.3360C>T (p.Ile1120=) n.186C>T c.2120C>T c.3540C>T (p.Ile1180=) c.3474C>T (p.Ile1158=) c.3534C>T (p.Ile1178=) c.3480C>T (p.Ile1160=) c.3405C>T (p.Ile1135=) c.3000C>T (p.Ile1000=) c.2358C>T (p.Ile786=) n.3783C>T | ClinVar |
10 | g.71712790C>A | CA377144918 | C10orf105,CDH23 | c.3346C>A (p.Pro1116Thr) c.*3146G>T (n.*3146G>T) c.2777C>A c.3361C>A (p.Pro1121Thr) n.187C>A c.2121C>A c.3541C>A (p.Pro1181Thr) c.3475C>A (p.Pro1159Thr) c.3535C>A (p.Pro1179Thr) c.3481C>A (p.Pro1161Thr) c.3406C>A (p.Pro1136Thr) c.3001C>A (p.Pro1001Thr) c.2359C>A (p.Pro787Thr) n.3784C>A | |
10 | g.71712790C>G | CA377144902 | C10orf105,CDH23 | c.3346C>G (p.Pro1116Ala) c.*3146G>C (n.*3146G>C) c.2777C>G c.3361C>G (p.Pro1121Ala) n.187C>G c.2121C>G c.3541C>G (p.Pro1181Ala) c.3475C>G (p.Pro1159Ala) c.3535C>G (p.Pro1179Ala) c.3481C>G (p.Pro1161Ala) c.3406C>G (p.Pro1136Ala) c.3001C>G (p.Pro1001Ala) c.2359C>G (p.Pro787Ala) n.3784C>G | |
10 | g.71712790C>T | CA377144899 | C10orf105,CDH23 | c.3346C>T (p.Pro1116Ser) c.*3146G>A (n.*3146G>A) c.2777C>T c.3361C>T (p.Pro1121Ser) n.187C>T c.2121C>T c.3541C>T (p.Pro1181Ser) c.3475C>T (p.Pro1159Ser) c.3535C>T (p.Pro1179Ser) c.3481C>T (p.Pro1161Ser) c.3406C>T (p.Pro1136Ser) c.3001C>T (p.Pro1001Ser) c.2359C>T (p.Pro787Ser) n.3784C>T | |
10 | g.71712791C>A | CA377144921 | C10orf105,CDH23 | c.3347C>A (p.Pro1116His) c.*3145G>T (n.*3145G>T) c.2778C>A c.3362C>A (p.Pro1121His) n.188C>A c.2122C>A c.3542C>A (p.Pro1181His) c.3476C>A (p.Pro1159His) c.3536C>A (p.Pro1179His) c.3482C>A (p.Pro1161His) c.3407C>A (p.Pro1136His) c.3002C>A (p.Pro1001His) c.2360C>A (p.Pro787His) n.3785C>A | |
10 | g.71712791C= | CA1918844545 | C10orf105,CDH23 | c.3347C= (p.Pro1116=) c.*3145G= (n.*3145G=) c.2778C= c.3362C= (p.Pro1121=) n.188C= c.2122C= c.3542C= (p.Pro1181=) c.3476C= (p.Pro1159=) c.3536C= (p.Pro1179=) c.3482C= (p.Pro1161=) c.3407C= (p.Pro1136=) c.3002C= (p.Pro1001=) c.2360C= (p.Pro787=) n.3785C= | |
10 | g.71712791C>G | CA377144925 | C10orf105,CDH23 | c.3347C>G (p.Pro1116Arg) c.*3145G>C (n.*3145G>C) c.2778C>G c.3362C>G (p.Pro1121Arg) n.188C>G c.2122C>G c.3542C>G (p.Pro1181Arg) c.3476C>G (p.Pro1159Arg) c.3536C>G (p.Pro1179Arg) c.3482C>G (p.Pro1161Arg) c.3407C>G (p.Pro1136Arg) c.3002C>G (p.Pro1001Arg) c.2360C>G (p.Pro787Arg) n.3785C>G | |
10 | g.71712791C>T | CA377144938 | C10orf105,CDH23 | c.3347C>T (p.Pro1116Leu) c.*3145G>A (n.*3145G>A) c.2778C>T c.3362C>T (p.Pro1121Leu) n.188C>T c.2122C>T c.3542C>T (p.Pro1181Leu) c.3476C>T (p.Pro1159Leu) c.3536C>T (p.Pro1179Leu) c.3482C>T (p.Pro1161Leu) c.3407C>T (p.Pro1136Leu) c.3002C>T (p.Pro1001Leu) c.2360C>T (p.Pro787Leu) n.3785C>T | ClinVar dbSNP gnomAD v4 |
10 | g.71712792T>A | CA470063158 | C10orf105,CDH23 | c.3348T>A (p.Pro1116=) c.*3144A>T (n.*3144A>T) c.2779T>A c.3363T>A (p.Pro1121=) n.189T>A c.2123T>A c.3543T>A (p.Pro1181=) c.3477T>A (p.Pro1159=) c.3537T>A (p.Pro1179=) c.3483T>A (p.Pro1161=) c.3408T>A (p.Pro1136=) c.3003T>A (p.Pro1001=) c.2361T>A (p.Pro787=) n.3786T>A | |
10 | g.71712792T>C | CA470063159 | C10orf105,CDH23 | c.3348T>C (p.Pro1116=) c.*3144A>G (n.*3144A>G) c.2779T>C c.3363T>C (p.Pro1121=) n.189T>C c.2123T>C c.3543T>C (p.Pro1181=) c.3477T>C (p.Pro1159=) c.3537T>C (p.Pro1179=) c.3483T>C (p.Pro1161=) c.3408T>C (p.Pro1136=) c.3003T>C (p.Pro1001=) c.2361T>C (p.Pro787=) n.3786T>C | |
10 | g.71712792T>G | CA470063160 | C10orf105,CDH23 | c.3348T>G (p.Pro1116=) c.*3144A>C (n.*3144A>C) c.2779T>G c.3363T>G (p.Pro1121=) n.189T>G c.2123T>G c.3543T>G (p.Pro1181=) c.3477T>G (p.Pro1159=) c.3537T>G (p.Pro1179=) c.3483T>G (p.Pro1161=) c.3408T>G (p.Pro1136=) c.3003T>G (p.Pro1001=) c.2361T>G (p.Pro787=) n.3786T>G | |
10 | g.71712793G>A | CA377144942 | C10orf105,CDH23 | c.3349G>A (p.Glu1117Lys) c.*3143C>T (n.*3143C>T) c.2780G>A c.3364G>A (p.Glu1122Lys) n.190G>A c.2124G>A c.3544G>A (p.Glu1182Lys) c.3478G>A (p.Glu1160Lys) c.3538G>A (p.Glu1180Lys) c.3484G>A (p.Glu1162Lys) c.3409G>A (p.Glu1137Lys) c.3004G>A (p.Glu1002Lys) c.2362G>A (p.Glu788Lys) n.3787G>A | |
10 | g.71712793G>C | CA377144951 | C10orf105,CDH23 | c.3349G>C (p.Glu1117Gln) c.*3143C>G (n.*3143C>G) c.2780G>C c.3364G>C (p.Glu1122Gln) n.190G>C c.2124G>C c.3544G>C (p.Glu1182Gln) c.3478G>C (p.Glu1160Gln) c.3538G>C (p.Glu1180Gln) c.3484G>C (p.Glu1162Gln) c.3409G>C (p.Glu1137Gln) c.3004G>C (p.Glu1002Gln) c.2362G>C (p.Glu788Gln) n.3787G>C | |
10 | g.71712793G>T | CA377144963 | C10orf105,CDH23 | c.3349G>T (p.Glu1117Ter) c.*3143C>A (n.*3143C>A) c.2780G>T c.3364G>T (p.Glu1122Ter) n.190G>T c.2124G>T c.3544G>T (p.Glu1182Ter) c.3478G>T (p.Glu1160Ter) c.3538G>T (p.Glu1180Ter) c.3484G>T (p.Glu1162Ter) c.3409G>T (p.Glu1137Ter) c.3004G>T (p.Glu1002Ter) c.2362G>T (p.Glu788Ter) n.3787G>T | |
10 | g.71712794A>C | CA377144970 | C10orf105,CDH23 | c.3350A>C (p.Glu1117Ala) c.*3142T>G (n.*3142T>G) c.2781A>C c.3365A>C (p.Glu1122Ala) n.191A>C c.2125A>C c.3545A>C (p.Glu1182Ala) c.3479A>C (p.Glu1160Ala) c.3539A>C (p.Glu1180Ala) c.3485A>C (p.Glu1162Ala) c.3410A>C (p.Glu1137Ala) c.3005A>C (p.Glu1002Ala) c.2363A>C (p.Glu788Ala) n.3788A>C | |
10 | g.71712794A>G | CA377144965 | C10orf105,CDH23 | c.3350A>G (p.Glu1117Gly) c.*3142T>C (n.*3142T>C) c.2781A>G c.3365A>G (p.Glu1122Gly) n.191A>G c.2125A>G c.3545A>G (p.Glu1182Gly) c.3479A>G (p.Glu1160Gly) c.3539A>G (p.Glu1180Gly) c.3485A>G (p.Glu1162Gly) c.3410A>G (p.Glu1137Gly) c.3005A>G (p.Glu1002Gly) c.2363A>G (p.Glu788Gly) n.3788A>G | |
10 | g.71712794A>T | CA377144967 | C10orf105,CDH23 | c.3350A>T (p.Glu1117Val) c.*3142T>A (n.*3142T>A) c.2781A>T c.3365A>T (p.Glu1122Val) n.191A>T c.2125A>T c.3545A>T (p.Glu1182Val) c.3479A>T (p.Glu1160Val) c.3539A>T (p.Glu1180Val) c.3485A>T (p.Glu1162Val) c.3410A>T (p.Glu1137Val) c.3005A>T (p.Glu1002Val) c.2363A>T (p.Glu788Val) n.3788A>T | |
10 | g.71712795A= | CA1918844550 | C10orf105,CDH23 | c.3351A= (p.Glu1117=) c.*3141T= (n.*3141T=) c.2782A= c.3366A= (p.Glu1122=) n.192A= c.2126A= c.3546A= (p.Glu1182=) c.3480A= (p.Glu1160=) c.3540A= (p.Glu1180=) c.3486A= (p.Glu1162=) c.3411A= (p.Glu1137=) c.3006A= (p.Glu1002=) c.2364A= (p.Glu788=) n.3789A= | |
10 | g.71712795A>C | CA377144972 | C10orf105,CDH23 | c.3351A>C (p.Glu1117Asp) c.*3141T>G (n.*3141T>G) c.2782A>C c.3366A>C (p.Glu1122Asp) n.192A>C c.2126A>C c.3546A>C (p.Glu1182Asp) c.3480A>C (p.Glu1160Asp) c.3540A>C (p.Glu1180Asp) c.3486A>C (p.Glu1162Asp) c.3411A>C (p.Glu1137Asp) c.3006A>C (p.Glu1002Asp) c.2364A>C (p.Glu788Asp) n.3789A>C | |
10 | g.71712795A>G | CA470063172 | C10orf105,CDH23 | c.3351A>G (p.Glu1117=) c.*3141T>C (n.*3141T>C) c.2782A>G c.3366A>G (p.Glu1122=) n.192A>G c.2126A>G c.3546A>G (p.Glu1182=) c.3480A>G (p.Glu1160=) c.3540A>G (p.Glu1180=) c.3486A>G (p.Glu1162=) c.3411A>G (p.Glu1137=) c.3006A>G (p.Glu1002=) c.2364A>G (p.Glu788=) n.3789A>G | ClinVar dbSNP gnomAD v4 |
10 | g.71712795A>T | CA377144976 | C10orf105,CDH23 | c.3351A>T (p.Glu1117Asp) c.*3141T>A (n.*3141T>A) c.2782A>T c.3366A>T (p.Glu1122Asp) n.192A>T c.2126A>T c.3546A>T (p.Glu1182Asp) c.3480A>T (p.Glu1160Asp) c.3540A>T (p.Glu1180Asp) c.3486A>T (p.Glu1162Asp) c.3411A>T (p.Glu1137Asp) c.3006A>T (p.Glu1002Asp) c.2364A>T (p.Glu788Asp) n.3789A>T | |
10 | g.71712796G>A | CA5544556 | C10orf105,CDH23 | c.3352G>A (p.Gly1118Ser) c.*3140C>T (n.*3140C>T) c.2783G>A c.3367G>A (p.Gly1123Ser) n.193G>A c.2127G>A c.3547G>A (p.Gly1183Ser) c.3481G>A (p.Gly1161Ser) c.3541G>A (p.Gly1181Ser) c.3487G>A (p.Gly1163Ser) c.3412G>A (p.Gly1138Ser) c.3007G>A (p.Gly1003Ser) c.2365G>A (p.Gly789Ser) n.3790G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712796G>C | CA377144980 | C10orf105,CDH23 | c.3352G>C (p.Gly1118Arg) c.*3140C>G (n.*3140C>G) c.2783G>C c.3367G>C (p.Gly1123Arg) n.193G>C c.2127G>C c.3547G>C (p.Gly1183Arg) c.3481G>C (p.Gly1161Arg) c.3541G>C (p.Gly1181Arg) c.3487G>C (p.Gly1163Arg) c.3412G>C (p.Gly1138Arg) c.3007G>C (p.Gly1003Arg) c.2365G>C (p.Gly789Arg) n.3790G>C | |
10 | g.71712796G= | CA1918844556 | C10orf105,CDH23 | c.3352G= (p.Gly1118=) c.*3140C= (n.*3140C=) c.2783G= c.3367G= (p.Gly1123=) n.193G= c.2127G= c.3547G= (p.Gly1183=) c.3481G= (p.Gly1161=) c.3541G= (p.Gly1181=) c.3487G= (p.Gly1163=) c.3412G= (p.Gly1138=) c.3007G= (p.Gly1003=) c.2365G= (p.Gly789=) n.3790G= | |
10 | g.71712796G>T | CA377144981 | C10orf105,CDH23 | c.3352G>T (p.Gly1118Cys) c.*3140C>A (n.*3140C>A) c.2783G>T c.3367G>T (p.Gly1123Cys) n.193G>T c.2127G>T c.3547G>T (p.Gly1183Cys) c.3481G>T (p.Gly1161Cys) c.3541G>T (p.Gly1181Cys) c.3487G>T (p.Gly1163Cys) c.3412G>T (p.Gly1138Cys) c.3007G>T (p.Gly1003Cys) c.2365G>T (p.Gly789Cys) n.3790G>T | |
10 | g.71712797del | CA2499220334 | C10orf105,CDH23 | c.3353del (p.Gly1118AlafsTer7) c.3353del (p.Gly1118AlafsTer?) c.*3140del (n.*3140del) c.2784del c.3368del (p.Gly1123AlafsTer7) n.194del c.2128del c.3548del (p.Gly1183AlafsTer7) c.3482del (p.Gly1161AlafsTer7) c.3542del (p.Gly1181AlafsTer7) c.3488del (p.Gly1163AlafsTer7) c.3413del (p.Gly1138AlafsTer7) c.3008del (p.Gly1003AlafsTer7) c.2366del (p.Gly789AlafsTer7) n.3791del | ClinVar dbSNP |
10 | g.71712797G>A | CA377144982 | C10orf105,CDH23 | c.3353G>A (p.Gly1118Asp) c.*3139C>T (n.*3139C>T) c.2784G>A c.3368G>A (p.Gly1123Asp) n.194G>A c.2128G>A c.3548G>A (p.Gly1183Asp) c.3482G>A (p.Gly1161Asp) c.3542G>A (p.Gly1181Asp) c.3488G>A (p.Gly1163Asp) c.3413G>A (p.Gly1138Asp) c.3008G>A (p.Gly1003Asp) c.2366G>A (p.Gly789Asp) n.3791G>A | |
10 | g.71712797G>C | CA377144986 | C10orf105,CDH23 | c.3353G>C (p.Gly1118Ala) c.*3139C>G (n.*3139C>G) c.2784G>C c.3368G>C (p.Gly1123Ala) n.194G>C c.2128G>C c.3548G>C (p.Gly1183Ala) c.3482G>C (p.Gly1161Ala) c.3542G>C (p.Gly1181Ala) c.3488G>C (p.Gly1163Ala) c.3413G>C (p.Gly1138Ala) c.3008G>C (p.Gly1003Ala) c.2366G>C (p.Gly789Ala) n.3791G>C | |
10 | g.71712797G= | CA1918844561 | C10orf105,CDH23 | c.3353G= (p.Gly1118=) c.*3139C= (n.*3139C=) c.2784G= c.3368G= (p.Gly1123=) n.194G= c.2128G= c.3548G= (p.Gly1183=) c.3482G= (p.Gly1161=) c.3542G= (p.Gly1181=) c.3488G= (p.Gly1163=) c.3413G= (p.Gly1138=) c.3008G= (p.Gly1003=) c.2366G= (p.Gly789=) n.3791G= | |
10 | g.71712797G>T | CA5544557 | C10orf105,CDH23 | c.3353G>T (p.Gly1118Val) c.*3139C>A (n.*3139C>A) c.2784G>T c.3368G>T (p.Gly1123Val) n.194G>T c.2128G>T c.3548G>T (p.Gly1183Val) c.3482G>T (p.Gly1161Val) c.3542G>T (p.Gly1181Val) c.3488G>T (p.Gly1163Val) c.3413G>T (p.Gly1138Val) c.3008G>T (p.Gly1003Val) c.2366G>T (p.Gly789Val) n.3791G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712797_71712798insT | CA2609572417 | C10orf105,CDH23 | c.3353_3354insT (p.His1119ProfsTer13) c.3353_3354insT (p.His1119ProfsTer12) c.*3138_*3139insA (n.*3138_*3139insA) c.3353_3354insT (p.His1119ProfsTer25) c.2784_2785insT c.3368_3369insT (p.His1124ProfsTer13) n.194_195insT c.2128_2129insT c.3548_3549insT (p.His1184ProfsTer13) c.3482_3483insT (p.His1162ProfsTer13) c.3542_3543insT (p.His1182ProfsTer13) c.3488_3489insT (p.His1164ProfsTer13) c.3413_3414insT (p.His1139ProfsTer13) c.3008_3009insT (p.His1004ProfsTer13) c.2366_2367insT (p.His790ProfsTer13) n.3791_3792insT | gnomAD v4 |
10 | g.71712798C>A | CA470063181 | C10orf105,CDH23 | c.3354C>A (p.Gly1118=) c.*3138G>T (n.*3138G>T) c.2785C>A c.3369C>A (p.Gly1123=) n.195C>A c.2129C>A c.3549C>A (p.Gly1183=) c.3483C>A (p.Gly1161=) c.3543C>A (p.Gly1181=) c.3489C>A (p.Gly1163=) c.3414C>A (p.Gly1138=) c.3009C>A (p.Gly1003=) c.2367C>A (p.Gly789=) n.3792C>A | |
10 | g.71712798C>G | CA470063183 | C10orf105,CDH23 | c.3354C>G (p.Gly1118=) c.*3138G>C (n.*3138G>C) c.2785C>G c.3369C>G (p.Gly1123=) n.195C>G c.2129C>G c.3549C>G (p.Gly1183=) c.3483C>G (p.Gly1161=) c.3543C>G (p.Gly1181=) c.3489C>G (p.Gly1163=) c.3414C>G (p.Gly1138=) c.3009C>G (p.Gly1003=) c.2367C>G (p.Gly789=) n.3792C>G | |
10 | g.71712798C>T | CA470063184 | C10orf105,CDH23 | c.3354C>T (p.Gly1118=) c.*3138G>A (n.*3138G>A) c.2785C>T c.3369C>T (p.Gly1123=) n.195C>T c.2129C>T c.3549C>T (p.Gly1183=) c.3483C>T (p.Gly1161=) c.3543C>T (p.Gly1181=) c.3489C>T (p.Gly1163=) c.3414C>T (p.Gly1138=) c.3009C>T (p.Gly1003=) c.2367C>T (p.Gly789=) n.3792C>T | |
10 | g.71712799C>A | CA377144990 | C10orf105,CDH23 | c.3355C>A (p.His1119Asn) c.*3137G>T (n.*3137G>T) c.2786C>A c.3370C>A (p.His1124Asn) n.196C>A c.2130C>A c.3550C>A (p.His1184Asn) c.3484C>A (p.His1162Asn) c.3544C>A (p.His1182Asn) c.3490C>A (p.His1164Asn) c.3415C>A (p.His1139Asn) c.3010C>A (p.His1004Asn) c.2368C>A (p.His790Asn) n.3793C>A | |
10 | g.71712799C= | CA1918844564 | C10orf105,CDH23 | c.3355C= (p.His1119=) c.*3137G= (n.*3137G=) c.2786C= c.3370C= (p.His1124=) n.196C= c.2130C= c.3550C= (p.His1184=) c.3484C= (p.His1162=) c.3544C= (p.His1182=) c.3490C= (p.His1164=) c.3415C= (p.His1139=) c.3010C= (p.His1004=) c.2368C= (p.His790=) n.3793C= | |
10 | g.71712799C>G | CA377144997 | C10orf105,CDH23 | c.3355C>G (p.His1119Asp) c.*3137G>C (n.*3137G>C) c.2786C>G c.3370C>G (p.His1124Asp) n.196C>G c.2130C>G c.3550C>G (p.His1184Asp) c.3484C>G (p.His1162Asp) c.3544C>G (p.His1182Asp) c.3490C>G (p.His1164Asp) c.3415C>G (p.His1139Asp) c.3010C>G (p.His1004Asp) c.2368C>G (p.His790Asp) n.3793C>G | |
10 | g.71712799C>T | CA377144999 | C10orf105,CDH23 | c.3355C>T (p.His1119Tyr) c.*3137G>A (n.*3137G>A) c.2786C>T c.3370C>T (p.His1124Tyr) n.196C>T c.2130C>T c.3550C>T (p.His1184Tyr) c.3484C>T (p.His1162Tyr) c.3544C>T (p.His1182Tyr) c.3490C>T (p.His1164Tyr) c.3415C>T (p.His1139Tyr) c.3010C>T (p.His1004Tyr) c.2368C>T (p.His790Tyr) n.3793C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712800A>C | CA377145007 | C10orf105,CDH23 | c.3356A>C (p.His1119Pro) c.*3136T>G (n.*3136T>G) c.2787A>C c.3371A>C (p.His1124Pro) n.197A>C c.2131A>C c.3551A>C (p.His1184Pro) c.3485A>C (p.His1162Pro) c.3545A>C (p.His1182Pro) c.3491A>C (p.His1164Pro) c.3416A>C (p.His1139Pro) c.3011A>C (p.His1004Pro) c.2369A>C (p.His790Pro) n.3794A>C | |
10 | g.71712800A>G | CA377145011 | C10orf105,CDH23 | c.3356A>G (p.His1119Arg) c.*3136T>C (n.*3136T>C) c.2787A>G c.3371A>G (p.His1124Arg) n.197A>G c.2131A>G c.3551A>G (p.His1184Arg) c.3485A>G (p.His1162Arg) c.3545A>G (p.His1182Arg) c.3491A>G (p.His1164Arg) c.3416A>G (p.His1139Arg) c.3011A>G (p.His1004Arg) c.2369A>G (p.His790Arg) n.3794A>G | |
10 | g.71712800A>T | CA377145013 | C10orf105,CDH23 | c.3356A>T (p.His1119Leu) c.*3136T>A (n.*3136T>A) c.2787A>T c.3371A>T (p.His1124Leu) n.197A>T c.2131A>T c.3551A>T (p.His1184Leu) c.3485A>T (p.His1162Leu) c.3545A>T (p.His1182Leu) c.3491A>T (p.His1164Leu) c.3416A>T (p.His1139Leu) c.3011A>T (p.His1004Leu) c.2369A>T (p.His790Leu) n.3794A>T | |
10 | g.71712801C>A | CA377145015 | C10orf105,CDH23 | c.3357C>A (p.His1119Gln) c.*3135G>T (n.*3135G>T) c.2788C>A c.3372C>A (p.His1124Gln) n.198C>A c.2132C>A c.3552C>A (p.His1184Gln) c.3486C>A (p.His1162Gln) c.3546C>A (p.His1182Gln) c.3492C>A (p.His1164Gln) c.3417C>A (p.His1139Gln) c.3012C>A (p.His1004Gln) c.2370C>A (p.His790Gln) n.3795C>A | |
10 | g.71712801C= | CA1918844568 | C10orf105,CDH23 | c.3357C= (p.His1119=) c.*3135G= (n.*3135G=) c.2788C= c.3372C= (p.His1124=) n.198C= c.2132C= c.3552C= (p.His1184=) c.3486C= (p.His1162=) c.3546C= (p.His1182=) c.3492C= (p.His1164=) c.3417C= (p.His1139=) c.3012C= (p.His1004=) c.2370C= (p.His790=) n.3795C= | |
10 | g.71712801C>G | CA377145016 | C10orf105,CDH23 | c.3357C>G (p.His1119Gln) c.*3135G>C (n.*3135G>C) c.2788C>G c.3372C>G (p.His1124Gln) n.198C>G c.2132C>G c.3552C>G (p.His1184Gln) c.3486C>G (p.His1162Gln) c.3546C>G (p.His1182Gln) c.3492C>G (p.His1164Gln) c.3417C>G (p.His1139Gln) c.3012C>G (p.His1004Gln) c.2370C>G (p.His790Gln) n.3795C>G | |
10 | g.71712801C>T | CA470063194 | C10orf105,CDH23 | c.3357C>T (p.His1119=) c.*3135G>A (n.*3135G>A) c.2788C>T c.3372C>T (p.His1124=) n.198C>T c.2132C>T c.3552C>T (p.His1184=) c.3486C>T (p.His1162=) c.3546C>T (p.His1182=) c.3492C>T (p.His1164=) c.3417C>T (p.His1139=) c.3012C>T (p.His1004=) c.2370C>T (p.His790=) n.3795C>T | dbSNP gnomAD v4 |
10 | g.71712802A>C | CA377145017 | C10orf105,CDH23 | c.3358A>C (p.Ser1120Arg) c.*3134T>G (n.*3134T>G) c.2789A>C c.3373A>C (p.Ser1125Arg) n.199A>C c.2133A>C c.3553A>C (p.Ser1185Arg) c.3487A>C (p.Ser1163Arg) c.3547A>C (p.Ser1183Arg) c.3493A>C (p.Ser1165Arg) c.3418A>C (p.Ser1140Arg) c.3013A>C (p.Ser1005Arg) c.2371A>C (p.Ser791Arg) n.3796A>C | |
10 | g.71712802A>G | CA377145018 | C10orf105,CDH23 | c.3358A>G (p.Ser1120Gly) c.*3134T>C (n.*3134T>C) c.2789A>G c.3373A>G (p.Ser1125Gly) n.199A>G c.2133A>G c.3553A>G (p.Ser1185Gly) c.3487A>G (p.Ser1163Gly) c.3547A>G (p.Ser1183Gly) c.3493A>G (p.Ser1165Gly) c.3418A>G (p.Ser1140Gly) c.3013A>G (p.Ser1005Gly) c.2371A>G (p.Ser791Gly) n.3796A>G | gnomAD v4 |
10 | g.71712802A>T | CA377145019 | C10orf105,CDH23 | c.3358A>T (p.Ser1120Cys) c.*3134T>A (n.*3134T>A) c.2789A>T c.3373A>T (p.Ser1125Cys) n.199A>T c.2133A>T c.3553A>T (p.Ser1185Cys) c.3487A>T (p.Ser1163Cys) c.3547A>T (p.Ser1183Cys) c.3493A>T (p.Ser1165Cys) c.3418A>T (p.Ser1140Cys) c.3013A>T (p.Ser1005Cys) c.2371A>T (p.Ser791Cys) n.3796A>T | |
10 | g.71712803G>A | CA377145032 | C10orf105,CDH23 | c.3359G>A (p.Ser1120Asn) c.*3133C>T (n.*3133C>T) c.2790G>A c.3374G>A (p.Ser1125Asn) n.200G>A c.2134G>A c.3554G>A (p.Ser1185Asn) c.3488G>A (p.Ser1163Asn) c.3548G>A (p.Ser1183Asn) c.3494G>A (p.Ser1165Asn) c.3419G>A (p.Ser1140Asn) c.3014G>A (p.Ser1005Asn) c.2372G>A (p.Ser791Asn) n.3797G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712803G>C | CA377145034 | C10orf105,CDH23 | c.3359G>C (p.Ser1120Thr) c.*3133C>G (n.*3133C>G) c.2790G>C c.3374G>C (p.Ser1125Thr) n.200G>C c.2134G>C c.3554G>C (p.Ser1185Thr) c.3488G>C (p.Ser1163Thr) c.3548G>C (p.Ser1183Thr) c.3494G>C (p.Ser1165Thr) c.3419G>C (p.Ser1140Thr) c.3014G>C (p.Ser1005Thr) c.2372G>C (p.Ser791Thr) n.3797G>C | |
10 | g.71712803G= | CA1918844570 | C10orf105,CDH23 | c.3359G= (p.Ser1120=) c.*3133C= (n.*3133C=) c.2790G= c.3374G= (p.Ser1125=) n.200G= c.2134G= c.3554G= (p.Ser1185=) c.3488G= (p.Ser1163=) c.3548G= (p.Ser1183=) c.3494G= (p.Ser1165=) c.3419G= (p.Ser1140=) c.3014G= (p.Ser1005=) c.2372G= (p.Ser791=) n.3797G= | |
10 | g.71712803G>T | CA377145022 | C10orf105,CDH23 | c.3359G>T (p.Ser1120Ile) c.*3133C>A (n.*3133C>A) c.2790G>T c.3374G>T (p.Ser1125Ile) n.200G>T c.2134G>T c.3554G>T (p.Ser1185Ile) c.3488G>T (p.Ser1163Ile) c.3548G>T (p.Ser1183Ile) c.3494G>T (p.Ser1165Ile) c.3419G>T (p.Ser1140Ile) c.3014G>T (p.Ser1005Ile) c.2372G>T (p.Ser791Ile) n.3797G>T | |
10 | g.71712804C>A | CA377145040 | C10orf105,CDH23 | c.3360C>A (p.Ser1120Arg) c.*3132G>T (n.*3132G>T) c.2791C>A c.3375C>A (p.Ser1125Arg) n.201C>A c.2135C>A c.3555C>A (p.Ser1185Arg) c.3489C>A (p.Ser1163Arg) c.3549C>A (p.Ser1183Arg) c.3495C>A (p.Ser1165Arg) c.3420C>A (p.Ser1140Arg) c.3015C>A (p.Ser1005Arg) c.2373C>A (p.Ser791Arg) n.3798C>A | gnomAD v4 |
10 | g.71712804C>G | CA377145041 | C10orf105,CDH23 | c.3360C>G (p.Ser1120Arg) c.*3132G>C (n.*3132G>C) c.2791C>G c.3375C>G (p.Ser1125Arg) n.201C>G c.2135C>G c.3555C>G (p.Ser1185Arg) c.3489C>G (p.Ser1163Arg) c.3549C>G (p.Ser1183Arg) c.3495C>G (p.Ser1165Arg) c.3420C>G (p.Ser1140Arg) c.3015C>G (p.Ser1005Arg) c.2373C>G (p.Ser791Arg) n.3798C>G | |
10 | g.71712804C>T | CA470063206 | C10orf105,CDH23 | c.3360C>T (p.Ser1120=) c.*3132G>A (n.*3132G>A) c.2791C>T c.3375C>T (p.Ser1125=) n.201C>T c.2135C>T c.3555C>T (p.Ser1185=) c.3489C>T (p.Ser1163=) c.3549C>T (p.Ser1183=) c.3495C>T (p.Ser1165=) c.3420C>T (p.Ser1140=) c.3015C>T (p.Ser1005=) c.2373C>T (p.Ser791=) n.3798C>T | |
10 | g.71712805A= | CA1918844574 | C10orf105,CDH23 | c.3361A= (p.Ile1121=) c.*3131T= (n.*3131T=) c.2792A= c.3376A= (p.Ile1126=) n.202A= c.2136A= c.3556A= (p.Ile1186=) c.3490A= (p.Ile1164=) c.3550A= (p.Ile1184=) c.3496A= (p.Ile1166=) c.3421A= (p.Ile1141=) c.3016A= (p.Ile1006=) c.2374A= (p.Ile792=) n.3799A= | |
10 | g.71712805A>C | CA377145045 | C10orf105,CDH23 | c.3361A>C (p.Ile1121Leu) c.*3131T>G (n.*3131T>G) c.2792A>C c.3376A>C (p.Ile1126Leu) n.202A>C c.2136A>C c.3556A>C (p.Ile1186Leu) c.3490A>C (p.Ile1164Leu) c.3550A>C (p.Ile1184Leu) c.3496A>C (p.Ile1166Leu) c.3421A>C (p.Ile1141Leu) c.3016A>C (p.Ile1006Leu) c.2374A>C (p.Ile792Leu) n.3799A>C | |
10 | g.71712805A>G | CA377145050 | C10orf105,CDH23 | c.3361A>G (p.Ile1121Val) c.*3131T>C (n.*3131T>C) c.2792A>G c.3376A>G (p.Ile1126Val) n.202A>G c.2136A>G c.3556A>G (p.Ile1186Val) c.3490A>G (p.Ile1164Val) c.3550A>G (p.Ile1184Val) c.3496A>G (p.Ile1166Val) c.3421A>G (p.Ile1141Val) c.3016A>G (p.Ile1006Val) c.2374A>G (p.Ile792Val) n.3799A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712805A>T | CA137370 | C10orf105,CDH23 | c.3361A>T (p.Ile1121Phe) c.*3131T>A (n.*3131T>A) c.2792A>T c.3376A>T (p.Ile1126Phe) n.202A>T c.2136A>T c.3556A>T (p.Ile1186Phe) c.3490A>T (p.Ile1164Phe) c.3550A>T (p.Ile1184Phe) c.3496A>T (p.Ile1166Phe) c.3421A>T (p.Ile1141Phe) c.3016A>T (p.Ile1006Phe) c.2374A>T (p.Ile792Phe) n.3799A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712806T>A | CA377145051 | C10orf105,CDH23 | c.3362T>A (p.Ile1121Asn) c.*3130A>T (n.*3130A>T) c.2793T>A c.3377T>A (p.Ile1126Asn) n.203T>A c.2137T>A c.3557T>A (p.Ile1186Asn) c.3491T>A (p.Ile1164Asn) c.3551T>A (p.Ile1184Asn) c.3497T>A (p.Ile1166Asn) c.3422T>A (p.Ile1141Asn) c.3017T>A (p.Ile1006Asn) c.2375T>A (p.Ile792Asn) n.3800T>A | ClinVar gnomAD v4 |
10 | g.71712806T>C | CA377145052 | C10orf105,CDH23 | c.3362T>C (p.Ile1121Thr) c.*3130A>G (n.*3130A>G) c.2793T>C c.3377T>C (p.Ile1126Thr) n.203T>C c.2137T>C c.3557T>C (p.Ile1186Thr) c.3491T>C (p.Ile1164Thr) c.3551T>C (p.Ile1184Thr) c.3497T>C (p.Ile1166Thr) c.3422T>C (p.Ile1141Thr) c.3017T>C (p.Ile1006Thr) c.2375T>C (p.Ile792Thr) n.3800T>C | |
10 | g.71712806T>G | CA377145053 | C10orf105,CDH23 | c.3362T>G (p.Ile1121Ser) c.*3130A>C (n.*3130A>C) c.2793T>G c.3377T>G (p.Ile1126Ser) n.203T>G c.2137T>G c.3557T>G (p.Ile1186Ser) c.3491T>G (p.Ile1164Ser) c.3551T>G (p.Ile1184Ser) c.3497T>G (p.Ile1166Ser) c.3422T>G (p.Ile1141Ser) c.3017T>G (p.Ile1006Ser) c.2375T>G (p.Ile792Ser) n.3800T>G | |
10 | g.71712807C>A | CA470063213 | C10orf105,CDH23 | c.3363C>A (p.Ile1121=) c.*3129G>T (n.*3129G>T) c.2794C>A c.3378C>A (p.Ile1126=) n.204C>A c.2138C>A c.3558C>A (p.Ile1186=) c.3492C>A (p.Ile1164=) c.3552C>A (p.Ile1184=) c.3498C>A (p.Ile1166=) c.3423C>A (p.Ile1141=) c.3018C>A (p.Ile1006=) c.2376C>A (p.Ile792=) n.3801C>A | |
10 | g.71712807C>G | CA377145054 | C10orf105,CDH23 | c.3363C>G (p.Ile1121Met) c.*3129G>C (n.*3129G>C) c.2794C>G c.3378C>G (p.Ile1126Met) n.204C>G c.2138C>G c.3558C>G (p.Ile1186Met) c.3492C>G (p.Ile1164Met) c.3552C>G (p.Ile1184Met) c.3498C>G (p.Ile1166Met) c.3423C>G (p.Ile1141Met) c.3018C>G (p.Ile1006Met) c.2376C>G (p.Ile792Met) n.3801C>G | |
10 | g.71712807C>T | CA470063216 | C10orf105,CDH23 | c.3363C>T (p.Ile1121=) c.*3129G>A (n.*3129G>A) c.2794C>T c.3378C>T (p.Ile1126=) n.204C>T c.2138C>T c.3558C>T (p.Ile1186=) c.3492C>T (p.Ile1164=) c.3552C>T (p.Ile1184=) c.3498C>T (p.Ile1166=) c.3423C>T (p.Ile1141=) c.3018C>T (p.Ile1006=) c.2376C>T (p.Ile792=) n.3801C>T | gnomAD v4 |
10 | g.71712808T>A | CA377145060 | C10orf105,CDH23 | c.3364T>A (p.Leu1122Met) c.*3128A>T (n.*3128A>T) c.2795T>A c.3379T>A (p.Leu1127Met) n.205T>A c.2139T>A c.3559T>A (p.Leu1187Met) c.3493T>A (p.Leu1165Met) c.3553T>A (p.Leu1185Met) c.3499T>A (p.Leu1167Met) c.3424T>A (p.Leu1142Met) c.3019T>A (p.Leu1007Met) c.2377T>A (p.Leu793Met) n.3802T>A | |
10 | g.71712808T>C | CA470063220 | C10orf105,CDH23 | c.3364T>C (p.Leu1122=) c.*3128A>G (n.*3128A>G) c.2795T>C c.3379T>C (p.Leu1127=) n.205T>C c.2139T>C c.3559T>C (p.Leu1187=) c.3493T>C (p.Leu1165=) c.3553T>C (p.Leu1185=) c.3499T>C (p.Leu1167=) c.3424T>C (p.Leu1142=) c.3019T>C (p.Leu1007=) c.2377T>C (p.Leu793=) n.3802T>C | |
10 | g.71712808T>G | CA137372 | C10orf105,CDH23 | c.3364T>G (p.Leu1122Val) c.*3128A>C (n.*3128A>C) c.2795T>G c.3379T>G (p.Leu1127Val) n.205T>G c.2139T>G c.3559T>G (p.Leu1187Val) c.3493T>G (p.Leu1165Val) c.3553T>G (p.Leu1185Val) c.3499T>G (p.Leu1167Val) c.3424T>G (p.Leu1142Val) c.3019T>G (p.Leu1007Val) c.2377T>G (p.Leu793Val) n.3802T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712808T= | CA1918844582 | C10orf105,CDH23 | c.3364T= (p.Leu1122=) c.*3128A= (n.*3128A=) c.2795T= c.3379T= (p.Leu1127=) n.205T= c.2139T= c.3559T= (p.Leu1187=) c.3493T= (p.Leu1165=) c.3553T= (p.Leu1185=) c.3499T= (p.Leu1167=) c.3424T= (p.Leu1142=) c.3019T= (p.Leu1007=) c.2377T= (p.Leu793=) n.3802T= | |
10 | g.71712809T>A | CA377145062 | C10orf105,CDH23 | c.3365T>A (p.Leu1122Ter) c.*3127A>T (n.*3127A>T) c.2796T>A c.3380T>A (p.Leu1127Ter) n.206T>A c.2140T>A c.3560T>A (p.Leu1187Ter) c.3494T>A (p.Leu1165Ter) c.3554T>A (p.Leu1185Ter) c.3500T>A (p.Leu1167Ter) c.3425T>A (p.Leu1142Ter) c.3020T>A (p.Leu1007Ter) c.2378T>A (p.Leu793Ter) n.3803T>A | |
10 | g.71712809T>C | CA377145064 | C10orf105,CDH23 | c.3365T>C (p.Leu1122Ser) c.*3127A>G (n.*3127A>G) c.2796T>C c.3380T>C (p.Leu1127Ser) n.206T>C c.2140T>C c.3560T>C (p.Leu1187Ser) c.3494T>C (p.Leu1165Ser) c.3554T>C (p.Leu1185Ser) c.3500T>C (p.Leu1167Ser) c.3425T>C (p.Leu1142Ser) c.3020T>C (p.Leu1007Ser) c.2378T>C (p.Leu793Ser) n.3803T>C | gnomAD v4 |
10 | g.71712809T>G | CA377145071 | C10orf105,CDH23 | c.3365T>G (p.Leu1122Trp) c.*3127A>C (n.*3127A>C) c.2796T>G c.3380T>G (p.Leu1127Trp) n.206T>G c.2140T>G c.3560T>G (p.Leu1187Trp) c.3494T>G (p.Leu1165Trp) c.3554T>G (p.Leu1185Trp) c.3500T>G (p.Leu1167Trp) c.3425T>G (p.Leu1142Trp) c.3020T>G (p.Leu1007Trp) c.2378T>G (p.Leu793Trp) n.3803T>G | |
10 | g.71712810G>A | CA470063227 | C10orf105,CDH23 | c.3366G>A (p.Leu1122=) c.*3126C>T (n.*3126C>T) c.2797G>A c.3381G>A (p.Leu1127=) n.207G>A c.2141G>A c.3561G>A (p.Leu1187=) c.3495G>A (p.Leu1165=) c.3555G>A (p.Leu1185=) c.3501G>A (p.Leu1167=) c.3426G>A (p.Leu1142=) c.3021G>A (p.Leu1007=) c.2379G>A (p.Leu793=) n.3804G>A | |
10 | g.71712810G>C | CA377145081 | C10orf105,CDH23 | c.3366G>C (p.Leu1122Phe) c.*3126C>G (n.*3126C>G) c.2797G>C c.3381G>C (p.Leu1127Phe) n.207G>C c.2141G>C c.3561G>C (p.Leu1187Phe) c.3495G>C (p.Leu1165Phe) c.3555G>C (p.Leu1185Phe) c.3501G>C (p.Leu1167Phe) c.3426G>C (p.Leu1142Phe) c.3021G>C (p.Leu1007Phe) c.2379G>C (p.Leu793Phe) n.3804G>C | |
10 | g.71712810G= | CA1918844586 | C10orf105,CDH23 | c.3366G= (p.Leu1122=) c.*3126C= (n.*3126C=) c.2797G= c.3381G= (p.Leu1127=) n.207G= c.2141G= c.3561G= (p.Leu1187=) c.3495G= (p.Leu1165=) c.3555G= (p.Leu1185=) c.3501G= (p.Leu1167=) c.3426G= (p.Leu1142=) c.3021G= (p.Leu1007=) c.2379G= (p.Leu793=) n.3804G= | |
10 | g.71712810G>T | CA377145087 | C10orf105,CDH23 | c.3366G>T (p.Leu1122Phe) c.*3126C>A (n.*3126C>A) c.2797G>T c.3381G>T (p.Leu1127Phe) n.207G>T c.2141G>T c.3561G>T (p.Leu1187Phe) c.3495G>T (p.Leu1165Phe) c.3555G>T (p.Leu1185Phe) c.3501G>T (p.Leu1167Phe) c.3426G>T (p.Leu1142Phe) c.3021G>T (p.Leu1007Phe) c.2379G>T (p.Leu793Phe) n.3804G>T | ClinVar dbSNP |
10 | g.71712811C>A | CA377145093 | C10orf105,CDH23 | c.3367C>A (p.Gln1123Lys) c.*3125G>T (n.*3125G>T) c.2798C>A c.3382C>A (p.Gln1128Lys) n.208C>A c.2142C>A c.3562C>A (p.Gln1188Lys) c.3496C>A (p.Gln1166Lys) c.3556C>A (p.Gln1186Lys) c.3502C>A (p.Gln1168Lys) c.3427C>A (p.Gln1143Lys) c.3022C>A (p.Gln1008Lys) c.2380C>A (p.Gln794Lys) n.3805C>A | |
10 | g.71712811C>G | CA377145089 | C10orf105,CDH23 | c.3367C>G (p.Gln1123Glu) c.*3125G>C (n.*3125G>C) c.2798C>G c.3382C>G (p.Gln1128Glu) n.208C>G c.2142C>G c.3562C>G (p.Gln1188Glu) c.3496C>G (p.Gln1166Glu) c.3556C>G (p.Gln1186Glu) c.3502C>G (p.Gln1168Glu) c.3427C>G (p.Gln1143Glu) c.3022C>G (p.Gln1008Glu) c.2380C>G (p.Gln794Glu) n.3805C>G | |
10 | g.71712811C>T | CA377145088 | C10orf105,CDH23 | c.3367C>T (p.Gln1123Ter) c.*3125G>A (n.*3125G>A) c.2798C>T c.3382C>T (p.Gln1128Ter) n.208C>T c.2142C>T c.3562C>T (p.Gln1188Ter) c.3496C>T (p.Gln1166Ter) c.3556C>T (p.Gln1186Ter) c.3502C>T (p.Gln1168Ter) c.3427C>T (p.Gln1143Ter) c.3022C>T (p.Gln1008Ter) c.2380C>T (p.Gln794Ter) n.3805C>T | |
10 | g.71712812A>C | CA377145097 | C10orf105,CDH23 | c.3368A>C (p.Gln1123Pro) c.*3124T>G (n.*3124T>G) c.2799A>C c.3383A>C (p.Gln1128Pro) n.209A>C c.2143A>C c.3563A>C (p.Gln1188Pro) c.3497A>C (p.Gln1166Pro) c.3557A>C (p.Gln1186Pro) c.3503A>C (p.Gln1168Pro) c.3428A>C (p.Gln1143Pro) c.3023A>C (p.Gln1008Pro) c.2381A>C (p.Gln794Pro) n.3806A>C | |
10 | g.71712812A>G | CA377145108 | C10orf105,CDH23 | c.3368A>G (p.Gln1123Arg) c.*3124T>C (n.*3124T>C) c.2799A>G c.3383A>G (p.Gln1128Arg) n.209A>G c.2143A>G c.3563A>G (p.Gln1188Arg) c.3497A>G (p.Gln1166Arg) c.3557A>G (p.Gln1186Arg) c.3503A>G (p.Gln1168Arg) c.3428A>G (p.Gln1143Arg) c.3023A>G (p.Gln1008Arg) c.2381A>G (p.Gln794Arg) n.3806A>G | gnomAD v4 |
10 | g.71712812A>T | CA377145116 | C10orf105,CDH23 | c.3368A>T (p.Gln1123Leu) c.*3124T>A (n.*3124T>A) c.2799A>T c.3383A>T (p.Gln1128Leu) n.209A>T c.2143A>T c.3563A>T (p.Gln1188Leu) c.3497A>T (p.Gln1166Leu) c.3557A>T (p.Gln1186Leu) c.3503A>T (p.Gln1168Leu) c.3428A>T (p.Gln1143Leu) c.3023A>T (p.Gln1008Leu) c.2381A>T (p.Gln794Leu) n.3806A>T | |
10 | g.71712813G>A | CA470063236 | C10orf105,CDH23 | c.3369G>A (p.Gln1123=) c.*3123C>T (n.*3123C>T) c.2800G>A c.3384G>A (p.Gln1128=) n.210G>A c.2144G>A c.3564G>A (p.Gln1188=) c.3498G>A (p.Gln1166=) c.3558G>A (p.Gln1186=) c.3504G>A (p.Gln1168=) c.3429G>A (p.Gln1143=) c.3024G>A (p.Gln1008=) c.2382G>A (p.Gln794=) n.3807G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712813G>C | CA377145121 | C10orf105,CDH23 | c.3369G>C (p.Gln1123His) c.*3123C>G (n.*3123C>G) c.2800G>C c.3384G>C (p.Gln1128His) n.210G>C c.2144G>C c.3564G>C (p.Gln1188His) c.3498G>C (p.Gln1166His) c.3558G>C (p.Gln1186His) c.3504G>C (p.Gln1168His) c.3429G>C (p.Gln1143His) c.3024G>C (p.Gln1008His) c.2382G>C (p.Gln794His) n.3807G>C | |
10 | g.71712813G= | CA1918844591 | C10orf105,CDH23 | c.3369G= (p.Gln1123=) c.*3123C= (n.*3123C=) c.2800G= c.3384G= (p.Gln1128=) n.210G= c.2144G= c.3564G= (p.Gln1188=) c.3498G= (p.Gln1166=) c.3558G= (p.Gln1186=) c.3504G= (p.Gln1168=) c.3429G= (p.Gln1143=) c.3024G= (p.Gln1008=) c.2382G= (p.Gln794=) n.3807G= | |
10 | g.71712813G>T | CA377145125 | C10orf105,CDH23 | c.3369G>T (p.Gln1123His) c.*3123C>A (n.*3123C>A) c.2800G>T c.3384G>T (p.Gln1128His) n.210G>T c.2144G>T c.3564G>T (p.Gln1188His) c.3498G>T (p.Gln1166His) c.3558G>T (p.Gln1186His) c.3504G>T (p.Gln1168His) c.3429G>T (p.Gln1143His) c.3024G>T (p.Gln1008His) c.2382G>T (p.Gln794His) n.3807G>T | COSMIC COSMIC |
10 | g.71712822_71712844dup | CA2580081823 | C10orf105,CDH23 | c.3369+9_3369+31dup c.3373+5_3373+27dup c.*3101_*3123dup (n.*3101_*3123dup) c.2800+9_2800+31dup c.3384+9_3384+31dup n.210+9_210+31dup c.2144+9_2144+31dup c.2804+5_2804+27dup c.3564+9_3564+31dup c.3498+9_3498+31dup c.3558+9_3558+31dup c.3504+9_3504+31dup c.3429+9_3429+31dup c.3024+9_3024+31dup c.2382+9_2382+31dup n.3807+9_3807+31dup | ClinVar gnomAD v4 |
10 | g.71712814G>A | CA5544558 | C10orf105,CDH23 | c.3369+1G>A (n.3369+1G>A) c.3370G>A (p.Ala1124Thr) c.*3122C>T (n.*3122C>T) c.2800+1G>A c.3384+1G>A (n.3384+1G>A) n.210+1G>A c.2144+1G>A c.2801G>A c.3564+1G>A (n.3564+1G>A) c.3498+1G>A (n.3498+1G>A) c.3558+1G>A (n.3558+1G>A) c.3504+1G>A (n.3504+1G>A) c.3429+1G>A (n.3429+1G>A) c.3024+1G>A (n.3024+1G>A) c.2382+1G>A (n.2382+1G>A) n.3807+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71712814G>C | CA377145153 | C10orf105,CDH23 | c.3369+1G>C (n.3369+1G>C) c.3370G>C (p.Ala1124Pro) c.*3122C>G (n.*3122C>G) c.2800+1G>C c.3384+1G>C (n.3384+1G>C) n.210+1G>C c.2144+1G>C c.2801G>C c.3564+1G>C (n.3564+1G>C) c.3498+1G>C (n.3498+1G>C) c.3558+1G>C (n.3558+1G>C) c.3504+1G>C (n.3504+1G>C) c.3429+1G>C (n.3429+1G>C) c.3024+1G>C (n.3024+1G>C) c.2382+1G>C (n.2382+1G>C) n.3807+1G>C | |
10 | g.71712814G= | CA1918844598 | C10orf105,CDH23 | c.3369+1G= (n.3369+1G=) c.3370G= (p.Ala1124=) c.*3122C= (n.*3122C=) c.2800+1G= c.3384+1G= (n.3384+1G=) n.210+1G= c.2144+1G= c.2801G= c.3564+1G= (n.3564+1G=) c.3498+1G= (n.3498+1G=) c.3558+1G= (n.3558+1G=) c.3504+1G= (n.3504+1G=) c.3429+1G= (n.3429+1G=) c.3024+1G= (n.3024+1G=) c.2382+1G= (n.2382+1G=) n.3807+1G= | |
10 | g.71712814G>T | CA377145161 | C10orf105,CDH23 | c.3369+1G>T (n.3369+1G>T) c.3370G>T (p.Ala1124Ser) c.*3122C>A (n.*3122C>A) c.2800+1G>T c.3384+1G>T (n.3384+1G>T) n.210+1G>T c.2144+1G>T c.2801G>T c.3564+1G>T (n.3564+1G>T) c.3498+1G>T (n.3498+1G>T) c.3558+1G>T (n.3558+1G>T) c.3504+1G>T (n.3504+1G>T) c.3429+1G>T (n.3429+1G>T) c.3024+1G>T (n.3024+1G>T) c.2382+1G>T (n.2382+1G>T) n.3807+1G>T | |
10 | g.71712815C>A | CA377145164 | C10orf105,CDH23 | c.3369+2C>A (n.3369+2C>A) c.3371C>A (p.Ala1124Glu) c.*3121G>T (n.*3121G>T) c.2800+2C>A c.3384+2C>A (n.3384+2C>A) n.210+2C>A c.2144+2C>A c.2802C>A c.3564+2C>A (n.3564+2C>A) c.3498+2C>A (n.3498+2C>A) c.3558+2C>A (n.3558+2C>A) c.3504+2C>A (n.3504+2C>A) c.3429+2C>A (n.3429+2C>A) c.3024+2C>A (n.3024+2C>A) c.2382+2C>A (n.2382+2C>A) n.3807+2C>A | |
10 | g.71712815C>G | CA377145165 | C10orf105,CDH23 | c.3369+2C>G (n.3369+2C>G) c.3371C>G (p.Ala1124Gly) c.*3121G>C (n.*3121G>C) c.2800+2C>G c.3384+2C>G (n.3384+2C>G) n.210+2C>G c.2144+2C>G c.2802C>G c.3564+2C>G (n.3564+2C>G) c.3498+2C>G (n.3498+2C>G) c.3558+2C>G (n.3558+2C>G) c.3504+2C>G (n.3504+2C>G) c.3429+2C>G (n.3429+2C>G) c.3024+2C>G (n.3024+2C>G) c.2382+2C>G (n.2382+2C>G) n.3807+2C>G | |
10 | g.71712815C>T | CA377145169 | C10orf105,CDH23 | c.3369+2C>T (n.3369+2C>T) c.3371C>T (p.Ala1124Val) c.*3121G>A (n.*3121G>A) c.2800+2C>T c.3384+2C>T (n.3384+2C>T) n.210+2C>T c.2144+2C>T c.2802C>T c.3564+2C>T (n.3564+2C>T) c.3498+2C>T (n.3498+2C>T) c.3558+2C>T (n.3558+2C>T) c.3504+2C>T (n.3504+2C>T) c.3429+2C>T (n.3429+2C>T) c.3024+2C>T (n.3024+2C>T) c.2382+2C>T (n.2382+2C>T) n.3807+2C>T | gnomAD v4 |
10 | g.71712817G>A | CA377145176 | C10orf105,CDH23 | c.3369+4G>A (n.3369+4G>A) c.3373G>A (p.Ala1125Thr) c.*3119C>T (n.*3119C>T) c.2800+4G>A c.3384+4G>A (n.3384+4G>A) n.210+4G>A c.2144+4G>A c.2804G>A c.3564+4G>A (n.3564+4G>A) c.3498+4G>A (n.3498+4G>A) c.3558+4G>A (n.3558+4G>A) c.3504+4G>A (n.3504+4G>A) c.3429+4G>A (n.3429+4G>A) c.3024+4G>A (n.3024+4G>A) c.2382+4G>A (n.2382+4G>A) n.3807+4G>A | gnomAD v4 |
10 | g.71712817G>C | CA377145175 | C10orf105,CDH23 | c.3369+4G>C (n.3369+4G>C) c.3373G>C (p.Ala1125Pro) c.*3119C>G (n.*3119C>G) c.2800+4G>C c.3384+4G>C (n.3384+4G>C) n.210+4G>C c.2144+4G>C c.2804G>C c.3564+4G>C (n.3564+4G>C) c.3498+4G>C (n.3498+4G>C) c.3558+4G>C (n.3558+4G>C) c.3504+4G>C (n.3504+4G>C) c.3429+4G>C (n.3429+4G>C) c.3024+4G>C (n.3024+4G>C) c.2382+4G>C (n.2382+4G>C) n.3807+4G>C | |
10 | g.71712817G= | CA1918844603 | C10orf105,CDH23 | c.3369+4G= (n.3369+4G=) c.3373G= (p.Ala1125=) c.*3119C= (n.*3119C=) c.2800+4G= c.3384+4G= (n.3384+4G=) n.210+4G= c.2144+4G= c.2804G= c.3564+4G= (n.3564+4G=) c.3498+4G= (n.3498+4G=) c.3558+4G= (n.3558+4G=) c.3504+4G= (n.3504+4G=) c.3429+4G= (n.3429+4G=) c.3024+4G= (n.3024+4G=) c.2382+4G= (n.2382+4G=) n.3807+4G= | |
10 | g.71712817G>T | CA377145174 | C10orf105,CDH23 | c.3369+4G>T (n.3369+4G>T) c.3373G>T (p.Ala1125Ser) c.*3119C>A (n.*3119C>A) c.2800+4G>T c.3384+4G>T (n.3384+4G>T) n.210+4G>T c.2144+4G>T c.2804G>T c.3564+4G>T (n.3564+4G>T) c.3498+4G>T (n.3498+4G>T) c.3558+4G>T (n.3558+4G>T) c.3504+4G>T (n.3504+4G>T) c.3429+4G>T (n.3429+4G>T) c.3024+4G>T (n.3024+4G>T) c.2382+4G>T (n.2382+4G>T) n.3807+4G>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712818G>A | CA377145178 | C10orf105,CDH23 | c.3369+5G>A (n.3369+5G>A) c.3373+1G>A (n.3373+1G>A) c.*3118C>T (n.*3118C>T) c.2800+5G>A c.3384+5G>A (n.3384+5G>A) n.210+5G>A c.2144+5G>A c.2804+1G>A c.3564+5G>A (n.3564+5G>A) c.3498+5G>A (n.3498+5G>A) c.3558+5G>A (n.3558+5G>A) c.3504+5G>A (n.3504+5G>A) c.3429+5G>A (n.3429+5G>A) c.3024+5G>A (n.3024+5G>A) c.2382+5G>A (n.2382+5G>A) n.3807+5G>A | gnomAD v4 |
10 | g.71712818G>C | CA377145188 | C10orf105,CDH23 | c.3369+5G>C (n.3369+5G>C) c.3373+1G>C (n.3373+1G>C) c.*3118C>G (n.*3118C>G) c.2800+5G>C c.3384+5G>C (n.3384+5G>C) n.210+5G>C c.2144+5G>C c.2804+1G>C c.3564+5G>C (n.3564+5G>C) c.3498+5G>C (n.3498+5G>C) c.3558+5G>C (n.3558+5G>C) c.3504+5G>C (n.3504+5G>C) c.3429+5G>C (n.3429+5G>C) c.3024+5G>C (n.3024+5G>C) c.2382+5G>C (n.2382+5G>C) n.3807+5G>C | |
10 | g.71712818G>T | CA377145193 | C10orf105,CDH23 | c.3369+5G>T (n.3369+5G>T) c.3373+1G>T (n.3373+1G>T) c.*3118C>A (n.*3118C>A) c.2800+5G>T c.3384+5G>T (n.3384+5G>T) n.210+5G>T c.2144+5G>T c.2804+1G>T c.3564+5G>T (n.3564+5G>T) c.3498+5G>T (n.3498+5G>T) c.3558+5G>T (n.3558+5G>T) c.3504+5G>T (n.3504+5G>T) c.3429+5G>T (n.3429+5G>T) c.3024+5G>T (n.3024+5G>T) c.2382+5G>T (n.2382+5G>T) n.3807+5G>T | |
10 | g.71712819T>A | CA377145194 | C10orf105,CDH23 | c.3369+6T>A (n.3369+6T>A) c.3373+2T>A (n.3373+2T>A) c.*3117A>T (n.*3117A>T) c.2800+6T>A c.3384+6T>A (n.3384+6T>A) n.210+6T>A c.2144+6T>A c.2804+2T>A c.3564+6T>A (n.3564+6T>A) c.3498+6T>A (n.3498+6T>A) c.3558+6T>A (n.3558+6T>A) c.3504+6T>A (n.3504+6T>A) c.3429+6T>A (n.3429+6T>A) c.3024+6T>A (n.3024+6T>A) c.2382+6T>A (n.2382+6T>A) n.3807+6T>A | gnomAD v4 |
10 | g.71712819T>C | CA377145195 | C10orf105,CDH23 | c.3369+6T>C (n.3369+6T>C) c.3373+2T>C (n.3373+2T>C) c.*3117A>G (n.*3117A>G) c.2800+6T>C c.3384+6T>C (n.3384+6T>C) n.210+6T>C c.2144+6T>C c.2804+2T>C c.3564+6T>C (n.3564+6T>C) c.3498+6T>C (n.3498+6T>C) c.3558+6T>C (n.3558+6T>C) c.3504+6T>C (n.3504+6T>C) c.3429+6T>C (n.3429+6T>C) c.3024+6T>C (n.3024+6T>C) c.2382+6T>C (n.2382+6T>C) n.3807+6T>C | |
10 | g.71712819T>G | CA377145203 | C10orf105,CDH23 | c.3369+6T>G (n.3369+6T>G) c.3373+2T>G (n.3373+2T>G) c.*3117A>C (n.*3117A>C) c.2800+6T>G c.3384+6T>G (n.3384+6T>G) n.210+6T>G c.2144+6T>G c.2804+2T>G c.3564+6T>G (n.3564+6T>G) c.3498+6T>G (n.3498+6T>G) c.3558+6T>G (n.3558+6T>G) c.3504+6T>G (n.3504+6T>G) c.3429+6T>G (n.3429+6T>G) c.3024+6T>G (n.3024+6T>G) c.2382+6T>G (n.2382+6T>G) n.3807+6T>G | |
10 | g.71712821G>A | CA594705783 | C10orf105,CDH23 | c.3369+8G>A (n.3369+8G>A) c.3373+4G>A (n.3373+4G>A) c.*3115C>T (n.*3115C>T) c.2800+8G>A c.3384+8G>A (n.3384+8G>A) n.210+8G>A c.2144+8G>A c.2804+4G>A c.3564+8G>A (n.3564+8G>A) c.3498+8G>A (n.3498+8G>A) c.3558+8G>A (n.3558+8G>A) c.3504+8G>A (n.3504+8G>A) c.3429+8G>A (n.3429+8G>A) c.3024+8G>A (n.3024+8G>A) c.2382+8G>A (n.2382+8G>A) n.3807+8G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712821G= | CA1918844609 | C10orf105,CDH23 | c.3369+8G= (n.3369+8G=) c.3373+4G= (n.3373+4G=) c.*3115C= (n.*3115C=) c.2800+8G= c.3384+8G= (n.3384+8G=) n.210+8G= c.2144+8G= c.2804+4G= c.3564+8G= (n.3564+8G=) c.3498+8G= (n.3498+8G=) c.3558+8G= (n.3558+8G=) c.3504+8G= (n.3504+8G=) c.3429+8G= (n.3429+8G=) c.3024+8G= (n.3024+8G=) c.2382+8G= (n.2382+8G=) n.3807+8G= | |
10 | g.71712821G>T | CA5544559 | C10orf105,CDH23 | c.3369+8G>T (n.3369+8G>T) c.3373+4G>T (n.3373+4G>T) c.*3115C>A (n.*3115C>A) c.2800+8G>T c.3384+8G>T (n.3384+8G>T) n.210+8G>T c.2144+8G>T c.2804+4G>T c.3564+8G>T (n.3564+8G>T) c.3498+8G>T (n.3498+8G>T) c.3558+8G>T (n.3558+8G>T) c.3504+8G>T (n.3504+8G>T) c.3429+8G>T (n.3429+8G>T) c.3024+8G>T (n.3024+8G>T) c.2382+8G>T (n.2382+8G>T) n.3807+8G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712821_71712822delinsGC | CA1918844608 | C10orf105,CDH23 | c.3369+8_3369+9delinsGC (n.3369+8_3369+9delinsGC) c.3373+4_3373+5delinsGC (n.3373+4_3373+5delinsGC) c.*3114_*3115delinsGC (n.*3114_*3115delinsGC) c.2800+8_2800+9delinsGC c.3384+8_3384+9delinsGC (n.3384+8_3384+9delinsGC) n.210+8_210+9delinsGC c.2144+8_2144+9delinsGC c.2804+4_2804+5delinsGC c.3564+8_3564+9delinsGC (n.3564+8_3564+9delinsGC) c.3498+8_3498+9delinsGC (n.3498+8_3498+9delinsGC) c.3558+8_3558+9delinsGC (n.3558+8_3558+9delinsGC) c.3504+8_3504+9delinsGC (n.3504+8_3504+9delinsGC) c.3429+8_3429+9delinsGC (n.3429+8_3429+9delinsGC) c.3024+8_3024+9delinsGC (n.3024+8_3024+9delinsGC) c.2382+8_2382+9delinsGC (n.2382+8_2382+9delinsGC) n.3807+8_3807+9delinsGC | |
10 | g.71712821_71712822insAGAT | CA2788479695 | C10orf105,CDH23 | c.3369+8_3369+9insAGAT (n.3369+8_3369+9insAGAT) c.3373+4_3373+5insAGAT (n.3373+4_3373+5insAGAT) c.*3114_*3115insATCT (n.*3114_*3115insATCT) c.2800+8_2800+9insAGAT c.3384+8_3384+9insAGAT (n.3384+8_3384+9insAGAT) n.210+8_210+9insAGAT c.2144+8_2144+9insAGAT c.2804+4_2804+5insAGAT c.3564+8_3564+9insAGAT (n.3564+8_3564+9insAGAT) c.3498+8_3498+9insAGAT (n.3498+8_3498+9insAGAT) c.3558+8_3558+9insAGAT (n.3558+8_3558+9insAGAT) c.3504+8_3504+9insAGAT (n.3504+8_3504+9insAGAT) c.3429+8_3429+9insAGAT (n.3429+8_3429+9insAGAT) c.3024+8_3024+9insAGAT (n.3024+8_3024+9insAGAT) c.2382+8_2382+9insAGAT (n.2382+8_2382+9insAGAT) n.3807+8_3807+9insAGAT | |
10 | g.71712822C>T | CA2609572532 | C10orf105,CDH23 | c.3369+9C>T (n.3369+9C>T) c.3373+5C>T (n.3373+5C>T) c.*3114G>A (n.*3114G>A) c.2800+9C>T c.3384+9C>T (n.3384+9C>T) n.210+9C>T c.2144+9C>T c.2804+5C>T c.3564+9C>T (n.3564+9C>T) c.3498+9C>T (n.3498+9C>T) c.3558+9C>T (n.3558+9C>T) c.3504+9C>T (n.3504+9C>T) c.3429+9C>T (n.3429+9C>T) c.3024+9C>T (n.3024+9C>T) c.2382+9C>T (n.2382+9C>T) n.3807+9C>T | gnomAD v4 |
10 | g.71712824del | CA594705784 | C10orf105,CDH23 | c.3369+11del (n.3369+11del) c.3373+7del (n.3373+7del) c.*3114del (n.*3114del) c.2800+11del c.3384+11del (n.3384+11del) n.210+11del c.2144+11del c.2804+7del c.3564+11del (n.3564+11del) c.3498+11del (n.3498+11del) c.3558+11del (n.3558+11del) c.3504+11del (n.3504+11del) c.3429+11del (n.3429+11del) c.3024+11del (n.3024+11del) c.2382+11del (n.2382+11del) n.3807+11del | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712823C>A | CA2574575065 | C10orf105,CDH23 | c.3369+10C>A (n.3369+10C>A) c.3373+6C>A (n.3373+6C>A) c.*3113G>T (n.*3113G>T) c.2800+10C>A c.3384+10C>A (n.3384+10C>A) n.210+10C>A c.2144+10C>A c.2804+6C>A c.3564+10C>A (n.3564+10C>A) c.3498+10C>A (n.3498+10C>A) c.3558+10C>A (n.3558+10C>A) c.3504+10C>A (n.3504+10C>A) c.3429+10C>A (n.3429+10C>A) c.3024+10C>A (n.3024+10C>A) c.2382+10C>A (n.2382+10C>A) n.3807+10C>A | |
10 | g.71712823C= | CA1918844613 | C10orf105,CDH23 | c.3369+10C= (n.3369+10C=) c.3373+6C= (n.3373+6C=) c.*3113G= (n.*3113G=) c.2800+10C= c.3384+10C= (n.3384+10C=) n.210+10C= c.2144+10C= c.2804+6C= c.3564+10C= (n.3564+10C=) c.3498+10C= (n.3498+10C=) c.3558+10C= (n.3558+10C=) c.3504+10C= (n.3504+10C=) c.3429+10C= (n.3429+10C=) c.3024+10C= (n.3024+10C=) c.2382+10C= (n.2382+10C=) n.3807+10C= | |
10 | g.71712823C>G | CA668081717 | C10orf105,CDH23 | c.3369+10C>G (n.3369+10C>G) c.3373+6C>G (n.3373+6C>G) c.*3113G>C (n.*3113G>C) c.2800+10C>G c.3384+10C>G (n.3384+10C>G) n.210+10C>G c.2144+10C>G c.2804+6C>G c.3564+10C>G (n.3564+10C>G) c.3498+10C>G (n.3498+10C>G) c.3558+10C>G (n.3558+10C>G) c.3504+10C>G (n.3504+10C>G) c.3429+10C>G (n.3429+10C>G) c.3024+10C>G (n.3024+10C>G) c.2382+10C>G (n.2382+10C>G) n.3807+10C>G | dbSNP gnomAD v4 |
10 | g.71712824C= | CA1918844615 | C10orf105,CDH23 | c.3369+11C= (n.3369+11C=) c.3373+7C= (n.3373+7C=) c.*3112G= (n.*3112G=) c.2800+11C= c.3384+11C= (n.3384+11C=) n.210+11C= c.2144+11C= c.2804+7C= c.3564+11C= (n.3564+11C=) c.3498+11C= (n.3498+11C=) c.3558+11C= (n.3558+11C=) c.3504+11C= (n.3504+11C=) c.3429+11C= (n.3429+11C=) c.3024+11C= (n.3024+11C=) c.2382+11C= (n.2382+11C=) n.3807+11C= | |
10 | g.71712824C>T | CA5544560 | C10orf105,CDH23 | c.3369+11C>T (n.3369+11C>T) c.3373+7C>T (n.3373+7C>T) c.*3112G>A (n.*3112G>A) c.2800+11C>T c.3384+11C>T (n.3384+11C>T) n.210+11C>T c.2144+11C>T c.2804+7C>T c.3564+11C>T (n.3564+11C>T) c.3498+11C>T (n.3498+11C>T) c.3558+11C>T (n.3558+11C>T) c.3504+11C>T (n.3504+11C>T) c.3429+11C>T (n.3429+11C>T) c.3024+11C>T (n.3024+11C>T) c.2382+11C>T (n.2382+11C>T) n.3807+11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712825G>A | CA5544561 | C10orf105,CDH23 | c.3369+12G>A (n.3369+12G>A) c.3373+8G>A (n.3373+8G>A) c.*3111C>T (n.*3111C>T) c.2800+12G>A c.3384+12G>A (n.3384+12G>A) n.210+12G>A c.2144+12G>A c.2804+8G>A c.3564+12G>A (n.3564+12G>A) c.3498+12G>A (n.3498+12G>A) c.3558+12G>A (n.3558+12G>A) c.3504+12G>A (n.3504+12G>A) c.3429+12G>A (n.3429+12G>A) c.3024+12G>A (n.3024+12G>A) c.2382+12G>A (n.2382+12G>A) n.3807+12G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712825G>C | CA209465276 | C10orf105,CDH23 | c.3369+12G>C (n.3369+12G>C) c.3373+8G>C (n.3373+8G>C) c.*3111C>G (n.*3111C>G) c.2800+12G>C c.3384+12G>C (n.3384+12G>C) n.210+12G>C c.2144+12G>C c.2804+8G>C c.3564+12G>C (n.3564+12G>C) c.3498+12G>C (n.3498+12G>C) c.3558+12G>C (n.3558+12G>C) c.3504+12G>C (n.3504+12G>C) c.3429+12G>C (n.3429+12G>C) c.3024+12G>C (n.3024+12G>C) c.2382+12G>C (n.2382+12G>C) n.3807+12G>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712825G= | CA1918844622 | C10orf105,CDH23 | c.3369+12G= (n.3369+12G=) c.3373+8G= (n.3373+8G=) c.*3111C= (n.*3111C=) c.2800+12G= c.3384+12G= (n.3384+12G=) n.210+12G= c.2144+12G= c.2804+8G= c.3564+12G= (n.3564+12G=) c.3498+12G= (n.3498+12G=) c.3558+12G= (n.3558+12G=) c.3504+12G= (n.3504+12G=) c.3429+12G= (n.3429+12G=) c.3024+12G= (n.3024+12G=) c.2382+12G= (n.2382+12G=) n.3807+12G= | |
10 | g.71712826T>C | CA2609572560 | C10orf105,CDH23 | c.3369+13T>C (n.3369+13T>C) c.3373+9T>C (n.3373+9T>C) c.*3110A>G (n.*3110A>G) c.2800+13T>C c.3384+13T>C (n.3384+13T>C) n.210+13T>C c.2144+13T>C c.2804+9T>C c.3564+13T>C (n.3564+13T>C) c.3498+13T>C (n.3498+13T>C) c.3558+13T>C (n.3558+13T>C) c.3504+13T>C (n.3504+13T>C) c.3429+13T>C (n.3429+13T>C) c.3024+13T>C (n.3024+13T>C) c.2382+13T>C (n.2382+13T>C) n.3807+13T>C | gnomAD v4 |
10 | g.71712828G>A | CA594705785 | C10orf105,CDH23 | c.3369+15G>A (n.3369+15G>A) c.3373+11G>A (n.3373+11G>A) c.*3108C>T (n.*3108C>T) c.2800+15G>A c.3384+15G>A (n.3384+15G>A) n.210+15G>A c.2144+15G>A c.2804+11G>A c.3564+15G>A (n.3564+15G>A) c.3498+15G>A (n.3498+15G>A) c.3558+15G>A (n.3558+15G>A) c.3504+15G>A (n.3504+15G>A) c.3429+15G>A (n.3429+15G>A) c.3024+15G>A (n.3024+15G>A) c.2382+15G>A (n.2382+15G>A) n.3807+15G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712828G= | CA1918844626 | C10orf105,CDH23 | c.3369+15G= (n.3369+15G=) c.3373+11G= (n.3373+11G=) c.*3108C= (n.*3108C=) c.2800+15G= c.3384+15G= (n.3384+15G=) n.210+15G= c.2144+15G= c.2804+11G= c.3564+15G= (n.3564+15G=) c.3498+15G= (n.3498+15G=) c.3558+15G= (n.3558+15G=) c.3504+15G= (n.3504+15G=) c.3429+15G= (n.3429+15G=) c.3024+15G= (n.3024+15G=) c.2382+15G= (n.2382+15G=) n.3807+15G= | |
10 | g.71712829C= | CA1918844629 | C10orf105,CDH23 | c.3369+16C= (n.3369+16C=) c.3373+12C= (n.3373+12C=) c.*3107G= (n.*3107G=) c.2800+16C= c.3384+16C= (n.3384+16C=) n.210+16C= c.2144+16C= c.2804+12C= c.3564+16C= (n.3564+16C=) c.3498+16C= (n.3498+16C=) c.3558+16C= (n.3558+16C=) c.3504+16C= (n.3504+16C=) c.3429+16C= (n.3429+16C=) c.3024+16C= (n.3024+16C=) c.2382+16C= (n.2382+16C=) n.3807+16C= | |
10 | g.71712829C>G | CA594705786 | C10orf105,CDH23 | c.3369+16C>G (n.3369+16C>G) c.3373+12C>G (n.3373+12C>G) c.*3107G>C (n.*3107G>C) c.2800+16C>G c.3384+16C>G (n.3384+16C>G) n.210+16C>G c.2144+16C>G c.2804+12C>G c.3564+16C>G (n.3564+16C>G) c.3498+16C>G (n.3498+16C>G) c.3558+16C>G (n.3558+16C>G) c.3504+16C>G (n.3504+16C>G) c.3429+16C>G (n.3429+16C>G) c.3024+16C>G (n.3024+16C>G) c.2382+16C>G (n.2382+16C>G) n.3807+16C>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712829C>T | CA2609572568 | C10orf105,CDH23 | c.3369+16C>T (n.3369+16C>T) c.3373+12C>T (n.3373+12C>T) c.*3107G>A (n.*3107G>A) c.2800+16C>T c.3384+16C>T (n.3384+16C>T) n.210+16C>T c.2144+16C>T c.2804+12C>T c.3564+16C>T (n.3564+16C>T) c.3498+16C>T (n.3498+16C>T) c.3558+16C>T (n.3558+16C>T) c.3504+16C>T (n.3504+16C>T) c.3429+16C>T (n.3429+16C>T) c.3024+16C>T (n.3024+16C>T) c.2382+16C>T (n.2382+16C>T) n.3807+16C>T | gnomAD v4 |
10 | g.71712832C= | CA1918844631 | C10orf105,CDH23 | c.3369+19C= (n.3369+19C=) c.3373+15C= (n.3373+15C=) c.*3104G= (n.*3104G=) c.2800+19C= c.3384+19C= (n.3384+19C=) n.210+19C= c.2144+19C= c.2804+15C= c.3564+19C= (n.3564+19C=) c.3498+19C= (n.3498+19C=) c.3558+19C= (n.3558+19C=) c.3504+19C= (n.3504+19C=) c.3429+19C= (n.3429+19C=) c.3024+19C= (n.3024+19C=) c.2382+19C= (n.2382+19C=) n.3807+19C= | |
10 | g.71712832C>G | CA2739275795 | C10orf105,CDH23 | c.3369+19C>G (n.3369+19C>G) c.3373+15C>G (n.3373+15C>G) c.*3104G>C (n.*3104G>C) c.2800+19C>G c.3384+19C>G (n.3384+19C>G) n.210+19C>G c.2144+19C>G c.2804+15C>G c.3564+19C>G (n.3564+19C>G) c.3498+19C>G (n.3498+19C>G) c.3558+19C>G (n.3558+19C>G) c.3504+19C>G (n.3504+19C>G) c.3429+19C>G (n.3429+19C>G) c.3024+19C>G (n.3024+19C>G) c.2382+19C>G (n.2382+19C>G) n.3807+19C>G | ClinVar |
10 | g.71712832C>T | CA594705787 | C10orf105,CDH23 | c.3369+19C>T (n.3369+19C>T) c.3373+15C>T (n.3373+15C>T) c.*3104G>A (n.*3104G>A) c.2800+19C>T c.3384+19C>T (n.3384+19C>T) n.210+19C>T c.2144+19C>T c.2804+15C>T c.3564+19C>T (n.3564+19C>T) c.3498+19C>T (n.3498+19C>T) c.3558+19C>T (n.3558+19C>T) c.3504+19C>T (n.3504+19C>T) c.3429+19C>T (n.3429+19C>T) c.3024+19C>T (n.3024+19C>T) c.2382+19C>T (n.2382+19C>T) n.3807+19C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712834G>C | CA2609572574 | C10orf105,CDH23 | c.3369+21G>C (n.3369+21G>C) c.3373+17G>C (n.3373+17G>C) c.*3102C>G (n.*3102C>G) c.2800+21G>C c.3384+21G>C (n.3384+21G>C) n.210+21G>C c.2144+21G>C c.2804+17G>C c.3564+21G>C (n.3564+21G>C) c.3498+21G>C (n.3498+21G>C) c.3558+21G>C (n.3558+21G>C) c.3504+21G>C (n.3504+21G>C) c.3429+21G>C (n.3429+21G>C) c.3024+21G>C (n.3024+21G>C) c.2382+21G>C (n.2382+21G>C) n.3807+21G>C | gnomAD v4 |
10 | g.71712835G>A | CA2574575066 | C10orf105,CDH23 | c.3369+22G>A (n.3369+22G>A) c.3373+18G>A (n.3373+18G>A) c.*3101C>T (n.*3101C>T) c.2800+22G>A c.3384+22G>A (n.3384+22G>A) n.210+22G>A c.2144+22G>A c.2804+18G>A c.3564+22G>A (n.3564+22G>A) c.3498+22G>A (n.3498+22G>A) c.3558+22G>A (n.3558+22G>A) c.3504+22G>A (n.3504+22G>A) c.3429+22G>A (n.3429+22G>A) c.3024+22G>A (n.3024+22G>A) c.2382+22G>A (n.2382+22G>A) n.3807+22G>A | |
10 | g.71712836G>A | CA5544562 | C10orf105,CDH23 | c.3369+23G>A (n.3369+23G>A) c.3373+19G>A (n.3373+19G>A) c.*3100C>T (n.*3100C>T) c.2800+23G>A c.3384+23G>A (n.3384+23G>A) n.210+23G>A c.2144+23G>A c.2804+19G>A c.3564+23G>A (n.3564+23G>A) c.3498+23G>A (n.3498+23G>A) c.3558+23G>A (n.3558+23G>A) c.3504+23G>A (n.3504+23G>A) c.3429+23G>A (n.3429+23G>A) c.3024+23G>A (n.3024+23G>A) c.2382+23G>A (n.2382+23G>A) n.3807+23G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71712836G= | CA1918844635 | C10orf105,CDH23 | c.3369+23G= (n.3369+23G=) c.3373+19G= (n.3373+19G=) c.*3100C= (n.*3100C=) c.2800+23G= c.3384+23G= (n.3384+23G=) n.210+23G= c.2144+23G= c.2804+19G= c.3564+23G= (n.3564+23G=) c.3498+23G= (n.3498+23G=) c.3558+23G= (n.3558+23G=) c.3504+23G= (n.3504+23G=) c.3429+23G= (n.3429+23G=) c.3024+23G= (n.3024+23G=) c.2382+23G= (n.2382+23G=) n.3807+23G= | |
10 | g.71712836G>T | CA2788479697 | C10orf105,CDH23 | c.3369+23G>T (n.3369+23G>T) c.3373+19G>T (n.3373+19G>T) c.*3100C>A (n.*3100C>A) c.2800+23G>T c.3384+23G>T (n.3384+23G>T) n.210+23G>T c.2144+23G>T c.2804+19G>T c.3564+23G>T (n.3564+23G>T) c.3498+23G>T (n.3498+23G>T) c.3558+23G>T (n.3558+23G>T) c.3504+23G>T (n.3504+23G>T) c.3429+23G>T (n.3429+23G>T) c.3024+23G>T (n.3024+23G>T) c.2382+23G>T (n.2382+23G>T) n.3807+23G>T | |
10 | g.71712838C>A | CA2609572580 | C10orf105,CDH23 | c.3369+25C>A (n.3369+25C>A) c.3373+21C>A (n.3373+21C>A) c.*3098G>T (n.*3098G>T) c.2800+25C>A c.3384+25C>A (n.3384+25C>A) n.210+25C>A c.2144+25C>A c.2804+21C>A c.3564+25C>A (n.3564+25C>A) c.3498+25C>A (n.3498+25C>A) c.3558+25C>A (n.3558+25C>A) c.3504+25C>A (n.3504+25C>A) c.3429+25C>A (n.3429+25C>A) c.3024+25C>A (n.3024+25C>A) c.2382+25C>A (n.2382+25C>A) n.3807+25C>A | gnomAD v4 |
10 | g.71712838_71712839insCACTGAGCATGTGCCC | CA2788479702 | C10orf105,CDH23 | c.3369+25_3369+26insCACTGAGCATGTGCCC (n.3369+25_3369+26insCACTGAGCATGTGCCC) c.3373+21_3373+22insCACTGAGCATGTGCCC (n.3373+21_3373+22insCACTGAGCATGTGCCC) c.*3098_*3099insGGCACATGCTCAGTGG (n.*3098_*3099insGGCACATGCTCAGTGG) c.2800+25_2800+26insCACTGAGCATGTGCCC c.3384+25_3384+26insCACTGAGCATGTGCCC (n.3384+25_3384+26insCACTGAGCATGTGCCC) n.210+25_210+26insCACTGAGCATGTGCCC c.2144+25_2144+26insCACTGAGCATGTGCCC c.2804+21_2804+22insCACTGAGCATGTGCCC c.3564+25_3564+26insCACTGAGCATGTGCCC (n.3564+25_3564+26insCACTGAGCATGTGCCC) c.3498+25_3498+26insCACTGAGCATGTGCCC (n.3498+25_3498+26insCACTGAGCATGTGCCC) c.3558+25_3558+26insCACTGAGCATGTGCCC (n.3558+25_3558+26insCACTGAGCATGTGCCC) c.3504+25_3504+26insCACTGAGCATGTGCCC (n.3504+25_3504+26insCACTGAGCATGTGCCC) c.3429+25_3429+26insCACTGAGCATGTGCCC (n.3429+25_3429+26insCACTGAGCATGTGCCC) c.3024+25_3024+26insCACTGAGCATGTGCCC (n.3024+25_3024+26insCACTGAGCATGTGCCC) c.2382+25_2382+26insCACTGAGCATGTGCCC (n.2382+25_2382+26insCACTGAGCATGTGCCC) n.3807+25_3807+26insCACTGAGCATGTGCCC | |
10 | g.71712838_71712839insCACTGAGCATGTGCCCTC | CA2788479699 | C10orf105,CDH23 | c.3369+25_3369+26insCACTGAGCATGTGCCCTC (n.3369+25_3369+26insCACTGAGCATGTGCCCTC) c.3373+21_3373+22insCACTGAGCATGTGCCCTC (n.3373+21_3373+22insCACTGAGCATGTGCCCTC) c.*3098_*3099insAGGGCACATGCTCAGTGG (n.*3098_*3099insAGGGCACATGCTCAGTGG) c.2800+25_2800+26insCACTGAGCATGTGCCCTC c.3384+25_3384+26insCACTGAGCATGTGCCCTC (n.3384+25_3384+26insCACTGAGCATGTGCCCTC) n.210+25_210+26insCACTGAGCATGTGCCCTC c.2144+25_2144+26insCACTGAGCATGTGCCCTC c.2804+21_2804+22insCACTGAGCATGTGCCCTC c.3564+25_3564+26insCACTGAGCATGTGCCCTC (n.3564+25_3564+26insCACTGAGCATGTGCCCTC) c.3498+25_3498+26insCACTGAGCATGTGCCCTC (n.3498+25_3498+26insCACTGAGCATGTGCCCTC) c.3558+25_3558+26insCACTGAGCATGTGCCCTC (n.3558+25_3558+26insCACTGAGCATGTGCCCTC) c.3504+25_3504+26insCACTGAGCATGTGCCCTC (n.3504+25_3504+26insCACTGAGCATGTGCCCTC) c.3429+25_3429+26insCACTGAGCATGTGCCCTC (n.3429+25_3429+26insCACTGAGCATGTGCCCTC) c.3024+25_3024+26insCACTGAGCATGTGCCCTC (n.3024+25_3024+26insCACTGAGCATGTGCCCTC) c.2382+25_2382+26insCACTGAGCATGTGCCCTC (n.2382+25_2382+26insCACTGAGCATGTGCCCTC) n.3807+25_3807+26insCACTGAGCATGTGCCCTC | |
10 | g.71712839_71712843delinsAGGTG | CA1918844638 | C10orf105,CDH23 | c.3369+26_3369+30delinsAGGTG (n.3369+26_3369+30delinsAGGTG) c.3373+22_3373+26delinsAGGTG (n.3373+22_3373+26delinsAGGTG) c.*3093_*3097delinsCACCT (n.*3093_*3097delinsCACCT) c.2800+26_2800+30delinsAGGTG c.3384+26_3384+30delinsAGGTG (n.3384+26_3384+30delinsAGGTG) n.210+26_210+30delinsAGGTG c.2144+26_2144+30delinsAGGTG c.2804+22_2804+26delinsAGGTG c.3564+26_3564+30delinsAGGTG (n.3564+26_3564+30delinsAGGTG) c.3498+26_3498+30delinsAGGTG (n.3498+26_3498+30delinsAGGTG) c.3558+26_3558+30delinsAGGTG (n.3558+26_3558+30delinsAGGTG) c.3504+26_3504+30delinsAGGTG (n.3504+26_3504+30delinsAGGTG) c.3429+26_3429+30delinsAGGTG (n.3429+26_3429+30delinsAGGTG) c.3024+26_3024+30delinsAGGTG (n.3024+26_3024+30delinsAGGTG) c.2382+26_2382+30delinsAGGTG (n.2382+26_2382+30delinsAGGTG) n.3807+26_3807+30delinsAGGTG | |
10 | g.71712840G>T | CA2609572586 | C10orf105,CDH23 | c.3369+27G>T (n.3369+27G>T) c.3373+23G>T (n.3373+23G>T) c.*3096C>A (n.*3096C>A) c.2800+27G>T c.3384+27G>T (n.3384+27G>T) n.210+27G>T c.2144+27G>T c.2804+23G>T c.3564+27G>T (n.3564+27G>T) c.3498+27G>T (n.3498+27G>T) c.3558+27G>T (n.3558+27G>T) c.3504+27G>T (n.3504+27G>T) c.3429+27G>T (n.3429+27G>T) c.3024+27G>T (n.3024+27G>T) c.2382+27G>T (n.2382+27G>T) n.3807+27G>T | gnomAD v4 |
10 | g.71712841_71712844del | CA929780850 | C10orf105,CDH23 | c.3369+28_3369+31del (n.3369+28_3369+31del) c.3373+24_3373+27del (n.3373+24_3373+27del) c.*3093_*3096del (n.*3093_*3096del) c.2800+28_2800+31del c.3384+28_3384+31del (n.3384+28_3384+31del) n.210+28_210+31del c.2144+28_2144+31del c.2804+24_2804+27del c.3564+28_3564+31del (n.3564+28_3564+31del) c.3498+28_3498+31del (n.3498+28_3498+31del) c.3558+28_3558+31del (n.3558+28_3558+31del) c.3504+28_3504+31del (n.3504+28_3504+31del) c.3429+28_3429+31del (n.3429+28_3429+31del) c.3024+28_3024+31del (n.3024+28_3024+31del) c.2382+28_2382+31del (n.2382+28_2382+31del) n.3807+28_3807+31del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712842T>G | CA1918844641 | C10orf105,CDH23 | c.3369+29T>G (n.3369+29T>G) c.3373+25T>G (n.3373+25T>G) c.*3094A>C (n.*3094A>C) c.2800+29T>G c.3384+29T>G (n.3384+29T>G) n.210+29T>G c.2144+29T>G c.2804+25T>G c.3564+29T>G (n.3564+29T>G) c.3498+29T>G (n.3498+29T>G) c.3558+29T>G (n.3558+29T>G) c.3504+29T>G (n.3504+29T>G) c.3429+29T>G (n.3429+29T>G) c.3024+29T>G (n.3024+29T>G) c.2382+29T>G (n.2382+29T>G) n.3807+29T>G | dbSNP |
10 | g.71712842T= | CA1918844640 | C10orf105,CDH23 | c.3369+29T= (n.3369+29T=) c.3373+25T= (n.3373+25T=) c.*3094A= (n.*3094A=) c.2800+29T= c.3384+29T= (n.3384+29T=) n.210+29T= c.2144+29T= c.2804+25T= c.3564+29T= (n.3564+29T=) c.3498+29T= (n.3498+29T=) c.3558+29T= (n.3558+29T=) c.3504+29T= (n.3504+29T=) c.3429+29T= (n.3429+29T=) c.3024+29T= (n.3024+29T=) c.2382+29T= (n.2382+29T=) n.3807+29T= | |
10 | g.71712843G>C | CA209465287 | C10orf105,CDH23 | c.3369+30G>C (n.3369+30G>C) c.3373+26G>C (n.3373+26G>C) c.*3093C>G (n.*3093C>G) c.2800+30G>C c.3384+30G>C (n.3384+30G>C) n.210+30G>C c.2144+30G>C c.2804+26G>C c.3564+30G>C (n.3564+30G>C) c.3498+30G>C (n.3498+30G>C) c.3558+30G>C (n.3558+30G>C) c.3504+30G>C (n.3504+30G>C) c.3429+30G>C (n.3429+30G>C) c.3024+30G>C (n.3024+30G>C) c.2382+30G>C (n.2382+30G>C) n.3807+30G>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712843G= | CA1918844643 | C10orf105,CDH23 | c.3369+30G= (n.3369+30G=) c.3373+26G= (n.3373+26G=) c.*3093C= (n.*3093C=) c.2800+30G= c.3384+30G= (n.3384+30G=) n.210+30G= c.2144+30G= c.2804+26G= c.3564+30G= (n.3564+30G=) c.3498+30G= (n.3498+30G=) c.3558+30G= (n.3558+30G=) c.3504+30G= (n.3504+30G=) c.3429+30G= (n.3429+30G=) c.3024+30G= (n.3024+30G=) c.2382+30G= (n.2382+30G=) n.3807+30G= | |
10 | g.71712843G>T | CA668081726 | C10orf105,CDH23 | c.3369+30G>T (n.3369+30G>T) c.3373+26G>T (n.3373+26G>T) c.*3093C>A (n.*3093C>A) c.2800+30G>T c.3384+30G>T (n.3384+30G>T) n.210+30G>T c.2144+30G>T c.2804+26G>T c.3564+30G>T (n.3564+30G>T) c.3498+30G>T (n.3498+30G>T) c.3558+30G>T (n.3558+30G>T) c.3504+30G>T (n.3504+30G>T) c.3429+30G>T (n.3429+30G>T) c.3024+30G>T (n.3024+30G>T) c.2382+30G>T (n.2382+30G>T) n.3807+30G>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712844G>A | CA1918844645 | C10orf105,CDH23 | c.3369+31G>A (n.3369+31G>A) c.3373+27G>A (n.3373+27G>A) c.*3092C>T (n.*3092C>T) c.2800+31G>A c.3384+31G>A (n.3384+31G>A) n.210+31G>A c.2144+31G>A c.2804+27G>A c.3564+31G>A (n.3564+31G>A) c.3498+31G>A (n.3498+31G>A) c.3558+31G>A (n.3558+31G>A) c.3504+31G>A (n.3504+31G>A) c.3429+31G>A (n.3429+31G>A) c.3024+31G>A (n.3024+31G>A) c.2382+31G>A (n.2382+31G>A) n.3807+31G>A | dbSNP |
10 | g.71712844G= | CA1918844644 | C10orf105,CDH23 | c.3369+31G= (n.3369+31G=) c.3373+27G= (n.3373+27G=) c.*3092C= (n.*3092C=) c.2800+31G= c.3384+31G= (n.3384+31G=) n.210+31G= c.2144+31G= c.2804+27G= c.3564+31G= (n.3564+31G=) c.3498+31G= (n.3498+31G=) c.3558+31G= (n.3558+31G=) c.3504+31G= (n.3504+31G=) c.3429+31G= (n.3429+31G=) c.3024+31G= (n.3024+31G=) c.2382+31G= (n.2382+31G=) n.3807+31G= | |
10 | g.71712844G>T | CA2609572593 | C10orf105,CDH23 | c.3369+31G>T (n.3369+31G>T) c.3373+27G>T (n.3373+27G>T) c.*3092C>A (n.*3092C>A) c.2800+31G>T c.3384+31G>T (n.3384+31G>T) n.210+31G>T c.2144+31G>T c.2804+27G>T c.3564+31G>T (n.3564+31G>T) c.3498+31G>T (n.3498+31G>T) c.3558+31G>T (n.3558+31G>T) c.3504+31G>T (n.3504+31G>T) c.3429+31G>T (n.3429+31G>T) c.3024+31G>T (n.3024+31G>T) c.2382+31G>T (n.2382+31G>T) n.3807+31G>T | gnomAD v4 |
10 | g.71712845T>G | CA1918844647 | C10orf105,CDH23 | c.3369+32T>G (n.3369+32T>G) c.3373+28T>G (n.3373+28T>G) c.*3091A>C (n.*3091A>C) c.2800+32T>G c.3384+32T>G (n.3384+32T>G) n.210+32T>G c.2144+32T>G c.2804+28T>G c.3564+32T>G (n.3564+32T>G) c.3498+32T>G (n.3498+32T>G) c.3558+32T>G (n.3558+32T>G) c.3504+32T>G (n.3504+32T>G) c.3429+32T>G (n.3429+32T>G) c.3024+32T>G (n.3024+32T>G) c.2382+32T>G (n.2382+32T>G) n.3807+32T>G | dbSNP |
10 | g.71712845T= | CA1918844646 | C10orf105,CDH23 | c.3369+32T= (n.3369+32T=) c.3373+28T= (n.3373+28T=) c.*3091A= (n.*3091A=) c.2800+32T= c.3384+32T= (n.3384+32T=) n.210+32T= c.2144+32T= c.2804+28T= c.3564+32T= (n.3564+32T=) c.3498+32T= (n.3498+32T=) c.3558+32T= (n.3558+32T=) c.3504+32T= (n.3504+32T=) c.3429+32T= (n.3429+32T=) c.3024+32T= (n.3024+32T=) c.2382+32T= (n.2382+32T=) n.3807+32T= |