Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71709170G>A | CA5544503 | CDH23 | c.3179G>A (p.Arg1060Gln) c.2610G>A c.3194G>A (p.Arg1065Gln) c.1954G>A c.3374G>A (p.Arg1125Gln) c.3308G>A (p.Arg1103Gln) c.3368G>A (p.Arg1123Gln) c.3314G>A (p.Arg1105Gln) c.3239G>A (p.Arg1080Gln) c.2834G>A (p.Arg945Gln) c.2192G>A (p.Arg731Gln) n.3617G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709170G>C | CA5544504 | CDH23 | c.3179G>C (p.Arg1060Pro) c.2610G>C c.3194G>C (p.Arg1065Pro) c.1954G>C c.3374G>C (p.Arg1125Pro) c.3308G>C (p.Arg1103Pro) c.3368G>C (p.Arg1123Pro) c.3314G>C (p.Arg1105Pro) c.3239G>C (p.Arg1080Pro) c.2834G>C (p.Arg945Pro) c.2192G>C (p.Arg731Pro) n.3617G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709170G= | CA1918840914 | CDH23 | c.3179G= (p.Arg1060=) c.2610G= c.3194G= (p.Arg1065=) c.1954G= c.3374G= (p.Arg1125=) c.3308G= (p.Arg1103=) c.3368G= (p.Arg1123=) c.3314G= (p.Arg1105=) c.3239G= (p.Arg1080=) c.2834G= (p.Arg945=) c.2192G= (p.Arg731=) n.3617G= | |
10 | g.71709170G>T | CA377143323 | CDH23 | c.3179G>T (p.Arg1060Leu) c.2610G>T c.3194G>T (p.Arg1065Leu) c.1954G>T c.3374G>T (p.Arg1125Leu) c.3308G>T (p.Arg1103Leu) c.3368G>T (p.Arg1123Leu) c.3314G>T (p.Arg1105Leu) c.3239G>T (p.Arg1080Leu) c.2834G>T (p.Arg945Leu) c.2192G>T (p.Arg731Leu) n.3617G>T | gnomAD v4 COSMIC |
10 | g.71709171G>A | CA470062408 | CDH23 | c.3180G>A (p.Arg1060=) c.2611G>A c.3195G>A (p.Arg1065=) c.1955G>A c.3375G>A (p.Arg1125=) c.3309G>A (p.Arg1103=) c.3369G>A (p.Arg1123=) c.3315G>A (p.Arg1105=) c.3240G>A (p.Arg1080=) c.2835G>A (p.Arg945=) c.2193G>A (p.Arg731=) n.3618G>A | |
10 | g.71709171G>C | CA470062409 | CDH23 | c.3180G>C (p.Arg1060=) c.2611G>C c.3195G>C (p.Arg1065=) c.1955G>C c.3375G>C (p.Arg1125=) c.3309G>C (p.Arg1103=) c.3369G>C (p.Arg1123=) c.3315G>C (p.Arg1105=) c.3240G>C (p.Arg1080=) c.2835G>C (p.Arg945=) c.2193G>C (p.Arg731=) n.3618G>C | |
10 | g.71709171G>T | CA470062410 | CDH23 | c.3180G>T (p.Arg1060=) c.2611G>T c.3195G>T (p.Arg1065=) c.1955G>T c.3375G>T (p.Arg1125=) c.3309G>T (p.Arg1103=) c.3369G>T (p.Arg1123=) c.3315G>T (p.Arg1105=) c.3240G>T (p.Arg1080=) c.2835G>T (p.Arg945=) c.2193G>T (p.Arg731=) n.3618G>T | |
10 | g.71709172G>A | CA16609571 | CDH23 | c.3181G>A (p.Glu1061Lys) c.2612G>A c.3196G>A (p.Glu1066Lys) c.1956G>A c.3376G>A (p.Glu1126Lys) c.3310G>A (p.Glu1104Lys) c.3370G>A (p.Glu1124Lys) c.3316G>A (p.Glu1106Lys) c.3241G>A (p.Glu1081Lys) c.2836G>A (p.Glu946Lys) c.2194G>A (p.Glu732Lys) n.3619G>A | ClinVar dbSNP |
10 | g.71709172G>C | CA377143326 | CDH23 | c.3181G>C (p.Glu1061Gln) c.2612G>C c.3196G>C (p.Glu1066Gln) c.1956G>C c.3376G>C (p.Glu1126Gln) c.3310G>C (p.Glu1104Gln) c.3370G>C (p.Glu1124Gln) c.3316G>C (p.Glu1106Gln) c.3241G>C (p.Glu1081Gln) c.2836G>C (p.Glu946Gln) c.2194G>C (p.Glu732Gln) n.3619G>C | |
10 | g.71709172G= | CA1918840924 | CDH23 | c.3181G= (p.Glu1061=) c.2612G= c.3196G= (p.Glu1066=) c.1956G= c.3376G= (p.Glu1126=) c.3310G= (p.Glu1104=) c.3370G= (p.Glu1124=) c.3316G= (p.Glu1106=) c.3241G= (p.Glu1081=) c.2836G= (p.Glu946=) c.2194G= (p.Glu732=) n.3619G= | |
10 | g.71709172G>T | CA377143328 | CDH23 | c.3181G>T (p.Glu1061Ter) c.2612G>T c.3196G>T (p.Glu1066Ter) c.1956G>T c.3376G>T (p.Glu1126Ter) c.3310G>T (p.Glu1104Ter) c.3370G>T (p.Glu1124Ter) c.3316G>T (p.Glu1106Ter) c.3241G>T (p.Glu1081Ter) c.2836G>T (p.Glu946Ter) c.2194G>T (p.Glu732Ter) n.3619G>T | |
10 | g.71709173A>C | CA377143329 | CDH23 | c.3182A>C (p.Glu1061Ala) c.2613A>C c.3197A>C (p.Glu1066Ala) c.1957A>C c.3377A>C (p.Glu1126Ala) c.3311A>C (p.Glu1104Ala) c.3371A>C (p.Glu1124Ala) c.3317A>C (p.Glu1106Ala) c.3242A>C (p.Glu1081Ala) c.2837A>C (p.Glu946Ala) c.2195A>C (p.Glu732Ala) n.3620A>C | |
10 | g.71709173A>G | CA377143330 | CDH23 | c.3182A>G (p.Glu1061Gly) c.2613A>G c.3197A>G (p.Glu1066Gly) c.1957A>G c.3377A>G (p.Glu1126Gly) c.3311A>G (p.Glu1104Gly) c.3371A>G (p.Glu1124Gly) c.3317A>G (p.Glu1106Gly) c.3242A>G (p.Glu1081Gly) c.2837A>G (p.Glu946Gly) c.2195A>G (p.Glu732Gly) n.3620A>G | |
10 | g.71709173A>T | CA377143332 | CDH23 | c.3182A>T (p.Glu1061Val) c.2613A>T c.3197A>T (p.Glu1066Val) c.1957A>T c.3377A>T (p.Glu1126Val) c.3311A>T (p.Glu1104Val) c.3371A>T (p.Glu1124Val) c.3317A>T (p.Glu1106Val) c.3242A>T (p.Glu1081Val) c.2837A>T (p.Glu946Val) c.2195A>T (p.Glu732Val) n.3620A>T | |
10 | g.71709174G>A | CA470062411 | CDH23 | c.3183G>A (p.Glu1061=) c.2614G>A c.3198G>A (p.Glu1066=) c.1958G>A c.3378G>A (p.Glu1126=) c.3312G>A (p.Glu1104=) c.3372G>A (p.Glu1124=) c.3318G>A (p.Glu1106=) c.3243G>A (p.Glu1081=) c.2838G>A (p.Glu946=) c.2196G>A (p.Glu732=) n.3621G>A | |
10 | g.71709174G>C | CA5544505 | CDH23 | c.3183G>C (p.Glu1061Asp) c.2614G>C c.3198G>C (p.Glu1066Asp) c.1958G>C c.3378G>C (p.Glu1126Asp) c.3312G>C (p.Glu1104Asp) c.3372G>C (p.Glu1124Asp) c.3318G>C (p.Glu1106Asp) c.3243G>C (p.Glu1081Asp) c.2838G>C (p.Glu946Asp) c.2196G>C (p.Glu732Asp) n.3621G>C | ClinVar dbSNP ExAC gnomAD v2 |
10 | g.71709174G= | CA1918840930 | CDH23 | c.3183G= (p.Glu1061=) c.2614G= c.3198G= (p.Glu1066=) c.1958G= c.3378G= (p.Glu1126=) c.3312G= (p.Glu1104=) c.3372G= (p.Glu1124=) c.3318G= (p.Glu1106=) c.3243G= (p.Glu1081=) c.2838G= (p.Glu946=) c.2196G= (p.Glu732=) n.3621G= | |
10 | g.71709174G>T | CA377143335 | CDH23 | c.3183G>T (p.Glu1061Asp) c.2614G>T c.3198G>T (p.Glu1066Asp) c.1958G>T c.3378G>T (p.Glu1126Asp) c.3312G>T (p.Glu1104Asp) c.3372G>T (p.Glu1124Asp) c.3318G>T (p.Glu1106Asp) c.3243G>T (p.Glu1081Asp) c.2838G>T (p.Glu946Asp) c.2196G>T (p.Glu732Asp) n.3621G>T | |
10 | g.71709175A>C | CA377143336 | CDH23 | c.3184A>C (p.Thr1062Pro) c.2615A>C c.3199A>C (p.Thr1067Pro) c.1959A>C c.3379A>C (p.Thr1127Pro) c.3313A>C (p.Thr1105Pro) c.3373A>C (p.Thr1125Pro) c.3319A>C (p.Thr1107Pro) c.3244A>C (p.Thr1082Pro) c.2839A>C (p.Thr947Pro) c.2197A>C (p.Thr733Pro) n.3622A>C | gnomAD v4 |
10 | g.71709175A>G | CA377143337 | CDH23 | c.3184A>G (p.Thr1062Ala) c.2615A>G c.3199A>G (p.Thr1067Ala) c.1959A>G c.3379A>G (p.Thr1127Ala) c.3313A>G (p.Thr1105Ala) c.3373A>G (p.Thr1125Ala) c.3319A>G (p.Thr1107Ala) c.3244A>G (p.Thr1082Ala) c.2839A>G (p.Thr947Ala) c.2197A>G (p.Thr733Ala) n.3622A>G | |
10 | g.71709175A>T | CA377143338 | CDH23 | c.3184A>T (p.Thr1062Ser) c.2615A>T c.3199A>T (p.Thr1067Ser) c.1959A>T c.3379A>T (p.Thr1127Ser) c.3313A>T (p.Thr1105Ser) c.3373A>T (p.Thr1125Ser) c.3319A>T (p.Thr1107Ser) c.3244A>T (p.Thr1082Ser) c.2839A>T (p.Thr947Ser) c.2197A>T (p.Thr733Ser) n.3622A>T | |
10 | g.71709176C>A | CA377143341 | CDH23 | c.3185C>A (p.Thr1062Asn) c.2616C>A c.3200C>A (p.Thr1067Asn) c.1960C>A c.3380C>A (p.Thr1127Asn) c.3314C>A (p.Thr1105Asn) c.3374C>A (p.Thr1125Asn) c.3320C>A (p.Thr1107Asn) c.3245C>A (p.Thr1082Asn) c.2840C>A (p.Thr947Asn) c.2198C>A (p.Thr733Asn) n.3623C>A | |
10 | g.71709176C= | CA1918840935 | CDH23 | c.3185C= (p.Thr1062=) c.2616C= c.3200C= (p.Thr1067=) c.1960C= c.3380C= (p.Thr1127=) c.3314C= (p.Thr1105=) c.3374C= (p.Thr1125=) c.3320C= (p.Thr1107=) c.3245C= (p.Thr1082=) c.2840C= (p.Thr947=) c.2198C= (p.Thr733=) n.3623C= | |
10 | g.71709176C>G | CA377143342 | CDH23 | c.3185C>G (p.Thr1062Ser) c.2616C>G c.3200C>G (p.Thr1067Ser) c.1960C>G c.3380C>G (p.Thr1127Ser) c.3314C>G (p.Thr1105Ser) c.3374C>G (p.Thr1125Ser) c.3320C>G (p.Thr1107Ser) c.3245C>G (p.Thr1082Ser) c.2840C>G (p.Thr947Ser) c.2198C>G (p.Thr733Ser) n.3623C>G | |
10 | g.71709176C>T | CA377143339 | CDH23 | c.3185C>T (p.Thr1062Ile) c.2616C>T c.3200C>T (p.Thr1067Ile) c.1960C>T c.3380C>T (p.Thr1127Ile) c.3314C>T (p.Thr1105Ile) c.3374C>T (p.Thr1125Ile) c.3320C>T (p.Thr1107Ile) c.3245C>T (p.Thr1082Ile) c.2840C>T (p.Thr947Ile) c.2198C>T (p.Thr733Ile) n.3623C>T | dbSNP |
10 | g.71709177C>A | CA5544506 | CDH23 | c.3186C>A (p.Thr1062=) c.2617C>A c.3201C>A (p.Thr1067=) c.1961C>A c.3381C>A (p.Thr1127=) c.3315C>A (p.Thr1105=) c.3375C>A (p.Thr1125=) c.3321C>A (p.Thr1107=) c.3246C>A (p.Thr1082=) c.2841C>A (p.Thr947=) c.2199C>A (p.Thr733=) n.3624C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709177C= | CA1918840940 | CDH23 | c.3186C= (p.Thr1062=) c.2617C= c.3201C= (p.Thr1067=) c.1961C= c.3381C= (p.Thr1127=) c.3315C= (p.Thr1105=) c.3375C= (p.Thr1125=) c.3321C= (p.Thr1107=) c.3246C= (p.Thr1082=) c.2841C= (p.Thr947=) c.2199C= (p.Thr733=) n.3624C= | |
10 | g.71709177C>G | CA470062412 | CDH23 | c.3186C>G (p.Thr1062=) c.2617C>G c.3201C>G (p.Thr1067=) c.1961C>G c.3381C>G (p.Thr1127=) c.3315C>G (p.Thr1105=) c.3375C>G (p.Thr1125=) c.3321C>G (p.Thr1107=) c.3246C>G (p.Thr1082=) c.2841C>G (p.Thr947=) c.2199C>G (p.Thr733=) n.3624C>G | |
10 | g.71709177C>T | CA5544507 | CDH23 | c.3186C>T (p.Thr1062=) c.2617C>T c.3201C>T (p.Thr1067=) c.1961C>T c.3381C>T (p.Thr1127=) c.3315C>T (p.Thr1105=) c.3375C>T (p.Thr1125=) c.3321C>T (p.Thr1107=) c.3246C>T (p.Thr1082=) c.2841C>T (p.Thr947=) c.2199C>T (p.Thr733=) n.3624C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709178A= | CA1918840953 | CDH23 | c.3187A= (p.Thr1063=) c.2618A= c.3202A= (p.Thr1068=) c.1962A= c.3382A= (p.Thr1128=) c.3316A= (p.Thr1106=) c.3376A= (p.Thr1126=) c.3322A= (p.Thr1108=) c.3247A= (p.Thr1083=) c.2842A= (p.Thr948=) c.2200A= (p.Thr734=) n.3625A= | |
10 | g.71709178A>C | CA377143344 | CDH23 | c.3187A>C (p.Thr1063Pro) c.2618A>C c.3202A>C (p.Thr1068Pro) c.1962A>C c.3382A>C (p.Thr1128Pro) c.3316A>C (p.Thr1106Pro) c.3376A>C (p.Thr1126Pro) c.3322A>C (p.Thr1108Pro) c.3247A>C (p.Thr1083Pro) c.2842A>C (p.Thr948Pro) c.2200A>C (p.Thr734Pro) n.3625A>C | |
10 | g.71709178A>G | CA377143345 | CDH23 | c.3187A>G (p.Thr1063Ala) c.2618A>G c.3202A>G (p.Thr1068Ala) c.1962A>G c.3382A>G (p.Thr1128Ala) c.3316A>G (p.Thr1106Ala) c.3376A>G (p.Thr1126Ala) c.3322A>G (p.Thr1108Ala) c.3247A>G (p.Thr1083Ala) c.2842A>G (p.Thr948Ala) c.2200A>G (p.Thr734Ala) n.3625A>G | |
10 | g.71709178A>T | CA377143347 | CDH23 | c.3187A>T (p.Thr1063Ser) c.2618A>T c.3202A>T (p.Thr1068Ser) c.1962A>T c.3382A>T (p.Thr1128Ser) c.3316A>T (p.Thr1106Ser) c.3376A>T (p.Thr1126Ser) c.3322A>T (p.Thr1108Ser) c.3247A>T (p.Thr1083Ser) c.2842A>T (p.Thr948Ser) c.2200A>T (p.Thr734Ser) n.3625A>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71709179C>A | CA377143349 | CDH23 | c.3188C>A (p.Thr1063Lys) c.2619C>A c.3203C>A (p.Thr1068Lys) c.1963C>A c.3383C>A (p.Thr1128Lys) c.3317C>A (p.Thr1106Lys) c.3377C>A (p.Thr1126Lys) c.3323C>A (p.Thr1108Lys) c.3248C>A (p.Thr1083Lys) c.2843C>A (p.Thr948Lys) c.2201C>A (p.Thr734Lys) n.3626C>A | |
10 | g.71709179C>G | CA377143350 | CDH23 | c.3188C>G (p.Thr1063Arg) c.2619C>G c.3203C>G (p.Thr1068Arg) c.1963C>G c.3383C>G (p.Thr1128Arg) c.3317C>G (p.Thr1106Arg) c.3377C>G (p.Thr1126Arg) c.3323C>G (p.Thr1108Arg) c.3248C>G (p.Thr1083Arg) c.2843C>G (p.Thr948Arg) c.2201C>G (p.Thr734Arg) n.3626C>G | |
10 | g.71709179C>T | CA377143351 | CDH23 | c.3188C>T (p.Thr1063Ile) c.2619C>T c.3203C>T (p.Thr1068Ile) c.1963C>T c.3383C>T (p.Thr1128Ile) c.3317C>T (p.Thr1106Ile) c.3377C>T (p.Thr1126Ile) c.3323C>T (p.Thr1108Ile) c.3248C>T (p.Thr1083Ile) c.2843C>T (p.Thr948Ile) c.2201C>T (p.Thr734Ile) n.3626C>T | |
10 | g.71709180A= | CA1918840959 | CDH23 | c.3189A= (p.Thr1063=) c.2620A= c.3204A= (p.Thr1068=) c.1964A= c.3384A= (p.Thr1128=) c.3318A= (p.Thr1106=) c.3378A= (p.Thr1126=) c.3324A= (p.Thr1108=) c.3249A= (p.Thr1083=) c.2844A= (p.Thr948=) c.2202A= (p.Thr734=) n.3627A= | |
10 | g.71709180A>C | CA470062413 | CDH23 | c.3189A>C (p.Thr1063=) c.2620A>C c.3204A>C (p.Thr1068=) c.1964A>C c.3384A>C (p.Thr1128=) c.3318A>C (p.Thr1106=) c.3378A>C (p.Thr1126=) c.3324A>C (p.Thr1108=) c.3249A>C (p.Thr1083=) c.2844A>C (p.Thr948=) c.2202A>C (p.Thr734=) n.3627A>C | |
10 | g.71709180A>G | CA470062414 | CDH23 | c.3189A>G (p.Thr1063=) c.2620A>G c.3204A>G (p.Thr1068=) c.1964A>G c.3384A>G (p.Thr1128=) c.3318A>G (p.Thr1106=) c.3378A>G (p.Thr1126=) c.3324A>G (p.Thr1108=) c.3249A>G (p.Thr1083=) c.2844A>G (p.Thr948=) c.2202A>G (p.Thr734=) n.3627A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709180A>T | CA470062415 | CDH23 | c.3189A>T (p.Thr1063=) c.2620A>T c.3204A>T (p.Thr1068=) c.1964A>T c.3384A>T (p.Thr1128=) c.3318A>T (p.Thr1106=) c.3378A>T (p.Thr1126=) c.3324A>T (p.Thr1108=) c.3249A>T (p.Thr1083=) c.2844A>T (p.Thr948=) c.2202A>T (p.Thr734=) n.3627A>T | |
10 | g.71709181G>A | CA377143352 | CDH23 | c.3190G>A (p.Ala1064Thr) c.2621G>A c.3205G>A (p.Ala1069Thr) c.1965G>A c.3385G>A (p.Ala1129Thr) c.3319G>A (p.Ala1107Thr) c.3379G>A (p.Ala1127Thr) c.3325G>A (p.Ala1109Thr) c.3250G>A (p.Ala1084Thr) c.2845G>A (p.Ala949Thr) c.2203G>A (p.Ala735Thr) n.3628G>A | COSMIC COSMIC |
10 | g.71709181G>C | CA377143354 | CDH23 | c.3190G>C (p.Ala1064Pro) c.2621G>C c.3205G>C (p.Ala1069Pro) c.1965G>C c.3385G>C (p.Ala1129Pro) c.3319G>C (p.Ala1107Pro) c.3379G>C (p.Ala1127Pro) c.3325G>C (p.Ala1109Pro) c.3250G>C (p.Ala1084Pro) c.2845G>C (p.Ala949Pro) c.2203G>C (p.Ala735Pro) n.3628G>C | |
10 | g.71709181G>T | CA377143356 | CDH23 | c.3190G>T (p.Ala1064Ser) c.2621G>T c.3205G>T (p.Ala1069Ser) c.1965G>T c.3385G>T (p.Ala1129Ser) c.3319G>T (p.Ala1107Ser) c.3379G>T (p.Ala1127Ser) c.3325G>T (p.Ala1109Ser) c.3250G>T (p.Ala1084Ser) c.2845G>T (p.Ala949Ser) c.2203G>T (p.Ala735Ser) n.3628G>T | |
10 | g.71709182C>A | CA377143360 | CDH23 | c.3191C>A (p.Ala1064Asp) c.2622C>A c.3206C>A (p.Ala1069Asp) c.1966C>A c.3386C>A (p.Ala1129Asp) c.3320C>A (p.Ala1107Asp) c.3380C>A (p.Ala1127Asp) c.3326C>A (p.Ala1109Asp) c.3251C>A (p.Ala1084Asp) c.2846C>A (p.Ala949Asp) c.2204C>A (p.Ala735Asp) n.3629C>A | |
10 | g.71709182C>G | CA377143361 | CDH23 | c.3191C>G (p.Ala1064Gly) c.2622C>G c.3206C>G (p.Ala1069Gly) c.1966C>G c.3386C>G (p.Ala1129Gly) c.3320C>G (p.Ala1107Gly) c.3380C>G (p.Ala1127Gly) c.3326C>G (p.Ala1109Gly) c.3251C>G (p.Ala1084Gly) c.2846C>G (p.Ala949Gly) c.2204C>G (p.Ala735Gly) n.3629C>G | |
10 | g.71709182C>T | CA377143358 | CDH23 | c.3191C>T (p.Ala1064Val) c.2622C>T c.3206C>T (p.Ala1069Val) c.1966C>T c.3386C>T (p.Ala1129Val) c.3320C>T (p.Ala1107Val) c.3380C>T (p.Ala1127Val) c.3326C>T (p.Ala1109Val) c.3251C>T (p.Ala1084Val) c.2846C>T (p.Ala949Val) c.2204C>T (p.Ala735Val) n.3629C>T | COSMIC |
10 | g.71709183C>A | CA470062416 | CDH23 | c.3192C>A (p.Ala1064=) c.2623C>A c.3207C>A (p.Ala1069=) c.1967C>A c.3387C>A (p.Ala1129=) c.3321C>A (p.Ala1107=) c.3381C>A (p.Ala1127=) c.3327C>A (p.Ala1109=) c.3252C>A (p.Ala1084=) c.2847C>A (p.Ala949=) c.2205C>A (p.Ala735=) n.3630C>A | ClinVar dbSNP |
10 | g.71709183C= | CA1918840965 | CDH23 | c.3192C= (p.Ala1064=) c.2623C= c.3207C= (p.Ala1069=) c.1967C= c.3387C= (p.Ala1129=) c.3321C= (p.Ala1107=) c.3381C= (p.Ala1127=) c.3327C= (p.Ala1109=) c.3252C= (p.Ala1084=) c.2847C= (p.Ala949=) c.2205C= (p.Ala735=) n.3630C= | |
10 | g.71709183C>G | CA470062417 | CDH23 | c.3192C>G (p.Ala1064=) c.2623C>G c.3207C>G (p.Ala1069=) c.1967C>G c.3387C>G (p.Ala1129=) c.3321C>G (p.Ala1107=) c.3381C>G (p.Ala1127=) c.3327C>G (p.Ala1109=) c.3252C>G (p.Ala1084=) c.2847C>G (p.Ala949=) c.2205C>G (p.Ala735=) n.3630C>G | |
10 | g.71709183C>T | CA5544508 | CDH23 | c.3192C>T (p.Ala1064=) c.2623C>T c.3207C>T (p.Ala1069=) c.1967C>T c.3387C>T (p.Ala1129=) c.3321C>T (p.Ala1107=) c.3381C>T (p.Ala1127=) c.3327C>T (p.Ala1109=) c.3252C>T (p.Ala1084=) c.2847C>T (p.Ala949=) c.2205C>T (p.Ala735=) n.3630C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709184G>A | CA377143363 | CDH23 | c.3193G>A (p.Ala1065Thr) c.2624G>A c.3208G>A (p.Ala1070Thr) c.1968G>A c.3388G>A (p.Ala1130Thr) c.3322G>A (p.Ala1108Thr) c.3382G>A (p.Ala1128Thr) c.3328G>A (p.Ala1110Thr) c.3253G>A (p.Ala1085Thr) c.2848G>A (p.Ala950Thr) c.2206G>A (p.Ala736Thr) n.3631G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71709184G>C | CA377143365 | CDH23 | c.3193G>C (p.Ala1065Pro) c.2624G>C c.3208G>C (p.Ala1070Pro) c.1968G>C c.3388G>C (p.Ala1130Pro) c.3322G>C (p.Ala1108Pro) c.3382G>C (p.Ala1128Pro) c.3328G>C (p.Ala1110Pro) c.3253G>C (p.Ala1085Pro) c.2848G>C (p.Ala950Pro) c.2206G>C (p.Ala736Pro) n.3631G>C | |
10 | g.71709184G= | CA1918840969 | CDH23 | c.3193G= (p.Ala1065=) c.2624G= c.3208G= (p.Ala1070=) c.1968G= c.3388G= (p.Ala1130=) c.3322G= (p.Ala1108=) c.3382G= (p.Ala1128=) c.3328G= (p.Ala1110=) c.3253G= (p.Ala1085=) c.2848G= (p.Ala950=) c.2206G= (p.Ala736=) n.3631G= | |
10 | g.71709184G>T | CA377143366 | CDH23 | c.3193G>T (p.Ala1065Ser) c.2624G>T c.3208G>T (p.Ala1070Ser) c.1968G>T c.3388G>T (p.Ala1130Ser) c.3322G>T (p.Ala1108Ser) c.3382G>T (p.Ala1128Ser) c.3328G>T (p.Ala1110Ser) c.3253G>T (p.Ala1085Ser) c.2848G>T (p.Ala950Ser) c.2206G>T (p.Ala736Ser) n.3631G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709185C>A | CA377143371 | CDH23 | c.3194C>A (p.Ala1065Asp) c.2625C>A c.3209C>A (p.Ala1070Asp) c.1969C>A c.3389C>A (p.Ala1130Asp) c.3323C>A (p.Ala1108Asp) c.3383C>A (p.Ala1128Asp) c.3329C>A (p.Ala1110Asp) c.3254C>A (p.Ala1085Asp) c.2849C>A (p.Ala950Asp) c.2207C>A (p.Ala736Asp) n.3632C>A | |
10 | g.71709185C>G | CA377143370 | CDH23 | c.3194C>G (p.Ala1065Gly) c.2625C>G c.3209C>G (p.Ala1070Gly) c.1969C>G c.3389C>G (p.Ala1130Gly) c.3323C>G (p.Ala1108Gly) c.3383C>G (p.Ala1128Gly) c.3329C>G (p.Ala1110Gly) c.3254C>G (p.Ala1085Gly) c.2849C>G (p.Ala950Gly) c.2207C>G (p.Ala736Gly) n.3632C>G | |
10 | g.71709185C>T | CA377143367 | CDH23 | c.3194C>T (p.Ala1065Val) c.2625C>T c.3209C>T (p.Ala1070Val) c.1969C>T c.3389C>T (p.Ala1130Val) c.3323C>T (p.Ala1108Val) c.3383C>T (p.Ala1128Val) c.3329C>T (p.Ala1110Val) c.3254C>T (p.Ala1085Val) c.2849C>T (p.Ala950Val) c.2207C>T (p.Ala736Val) n.3632C>T | |
10 | g.71709186C>A | CA470062418 | CDH23 | c.3195C>A (p.Ala1065=) c.2626C>A c.3210C>A (p.Ala1070=) c.1970C>A c.3390C>A (p.Ala1130=) c.3324C>A (p.Ala1108=) c.3384C>A (p.Ala1128=) c.3330C>A (p.Ala1110=) c.3255C>A (p.Ala1085=) c.2850C>A (p.Ala950=) c.2208C>A (p.Ala736=) n.3633C>A | gnomAD v4 |
10 | g.71709186C= | CA1918840971 | CDH23 | c.3195C= (p.Ala1065=) c.2626C= c.3210C= (p.Ala1070=) c.1970C= c.3390C= (p.Ala1130=) c.3324C= (p.Ala1108=) c.3384C= (p.Ala1128=) c.3330C= (p.Ala1110=) c.3255C= (p.Ala1085=) c.2850C= (p.Ala950=) c.2208C= (p.Ala736=) n.3633C= | |
10 | g.71709186C>G | CA5544509 | CDH23 | c.3195C>G (p.Ala1065=) c.2626C>G c.3210C>G (p.Ala1070=) c.1970C>G c.3390C>G (p.Ala1130=) c.3324C>G (p.Ala1108=) c.3384C>G (p.Ala1128=) c.3330C>G (p.Ala1110=) c.3255C>G (p.Ala1085=) c.2850C>G (p.Ala950=) c.2208C>G (p.Ala736=) n.3633C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71709186C>T | CA470062419 | CDH23 | c.3195C>T (p.Ala1065=) c.2626C>T c.3210C>T (p.Ala1070=) c.1970C>T c.3390C>T (p.Ala1130=) c.3324C>T (p.Ala1108=) c.3384C>T (p.Ala1128=) c.3330C>T (p.Ala1110=) c.3255C>T (p.Ala1085=) c.2850C>T (p.Ala950=) c.2208C>T (p.Ala736=) n.3633C>T | |
10 | g.71709187T>A | CA377143374 | CDH23 | c.3196T>A (p.Tyr1066Asn) c.2627T>A c.3211T>A (p.Tyr1071Asn) c.1971T>A c.3391T>A (p.Tyr1131Asn) c.3325T>A (p.Tyr1109Asn) c.3385T>A (p.Tyr1129Asn) c.3331T>A (p.Tyr1111Asn) c.3256T>A (p.Tyr1086Asn) c.2851T>A (p.Tyr951Asn) c.2209T>A (p.Tyr737Asn) n.3634T>A | |
10 | g.71709187T>C | CA377143375 | CDH23 | c.3196T>C (p.Tyr1066His) c.2627T>C c.3211T>C (p.Tyr1071His) c.1971T>C c.3391T>C (p.Tyr1131His) c.3325T>C (p.Tyr1109His) c.3385T>C (p.Tyr1129His) c.3331T>C (p.Tyr1111His) c.3256T>C (p.Tyr1086His) c.2851T>C (p.Tyr951His) c.2209T>C (p.Tyr737His) n.3634T>C | COSMIC COSMIC |
10 | g.71709187T>G | CA377143377 | CDH23 | c.3196T>G (p.Tyr1066Asp) c.2627T>G c.3211T>G (p.Tyr1071Asp) c.1971T>G c.3391T>G (p.Tyr1131Asp) c.3325T>G (p.Tyr1109Asp) c.3385T>G (p.Tyr1129Asp) c.3331T>G (p.Tyr1111Asp) c.3256T>G (p.Tyr1086Asp) c.2851T>G (p.Tyr951Asp) c.2209T>G (p.Tyr737Asp) n.3634T>G | |
10 | g.71709188A>C | CA377143379 | CDH23 | c.3197A>C (p.Tyr1066Ser) c.2628A>C c.3212A>C (p.Tyr1071Ser) c.1972A>C c.3392A>C (p.Tyr1131Ser) c.3326A>C (p.Tyr1109Ser) c.3386A>C (p.Tyr1129Ser) c.3332A>C (p.Tyr1111Ser) c.3257A>C (p.Tyr1086Ser) c.2852A>C (p.Tyr951Ser) c.2210A>C (p.Tyr737Ser) n.3635A>C | |
10 | g.71709188A>G | CA377143380 | CDH23 | c.3197A>G (p.Tyr1066Cys) c.2628A>G c.3212A>G (p.Tyr1071Cys) c.1972A>G c.3392A>G (p.Tyr1131Cys) c.3326A>G (p.Tyr1109Cys) c.3386A>G (p.Tyr1129Cys) c.3332A>G (p.Tyr1111Cys) c.3257A>G (p.Tyr1086Cys) c.2852A>G (p.Tyr951Cys) c.2210A>G (p.Tyr737Cys) n.3635A>G | gnomAD v4 |
10 | g.71709188A>T | CA377143382 | CDH23 | c.3197A>T (p.Tyr1066Phe) c.2628A>T c.3212A>T (p.Tyr1071Phe) c.1972A>T c.3392A>T (p.Tyr1131Phe) c.3326A>T (p.Tyr1109Phe) c.3386A>T (p.Tyr1129Phe) c.3332A>T (p.Tyr1111Phe) c.3257A>T (p.Tyr1086Phe) c.2852A>T (p.Tyr951Phe) c.2210A>T (p.Tyr737Phe) n.3635A>T | |
10 | g.71709189C>A | CA377143384 | CDH23 | c.3198C>A (p.Tyr1066Ter) c.2629C>A c.3213C>A (p.Tyr1071Ter) c.1973C>A c.3393C>A (p.Tyr1131Ter) c.3327C>A (p.Tyr1109Ter) c.3387C>A (p.Tyr1129Ter) c.3333C>A (p.Tyr1111Ter) c.3258C>A (p.Tyr1086Ter) c.2853C>A (p.Tyr951Ter) c.2211C>A (p.Tyr737Ter) n.3636C>A | |
10 | g.71709189C>G | CA377143385 | CDH23 | c.3198C>G (p.Tyr1066Ter) c.2629C>G c.3213C>G (p.Tyr1071Ter) c.1973C>G c.3393C>G (p.Tyr1131Ter) c.3327C>G (p.Tyr1109Ter) c.3387C>G (p.Tyr1129Ter) c.3333C>G (p.Tyr1111Ter) c.3258C>G (p.Tyr1086Ter) c.2853C>G (p.Tyr951Ter) c.2211C>G (p.Tyr737Ter) n.3636C>G | gnomAD v4 |
10 | g.71709189C>T | CA470062420 | CDH23 | c.3198C>T (p.Tyr1066=) c.2629C>T c.3213C>T (p.Tyr1071=) c.1973C>T c.3393C>T (p.Tyr1131=) c.3327C>T (p.Tyr1109=) c.3387C>T (p.Tyr1129=) c.3333C>T (p.Tyr1111=) c.3258C>T (p.Tyr1086=) c.2853C>T (p.Tyr951=) c.2211C>T (p.Tyr737=) n.3636C>T | ClinVar dbSNP |
10 | g.71709190A= | CA1918840975 | CDH23 | c.3199A= (p.Met1067=) c.2630A= c.3214A= (p.Met1072=) c.1974A= c.3394A= (p.Met1132=) c.3328A= (p.Met1110=) c.3388A= (p.Met1130=) c.3334A= (p.Met1112=) c.3259A= (p.Met1087=) c.2854A= (p.Met952=) c.2212A= (p.Met738=) n.3637A= | |
10 | g.71709190A>C | CA377143387 | CDH23 | c.3199A>C (p.Met1067Leu) c.2630A>C c.3214A>C (p.Met1072Leu) c.1974A>C c.3394A>C (p.Met1132Leu) c.3328A>C (p.Met1110Leu) c.3388A>C (p.Met1130Leu) c.3334A>C (p.Met1112Leu) c.3259A>C (p.Met1087Leu) c.2854A>C (p.Met952Leu) c.2212A>C (p.Met738Leu) n.3637A>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71709190A>G | CA377143388 | CDH23 | c.3199A>G (p.Met1067Val) c.2630A>G c.3214A>G (p.Met1072Val) c.1974A>G c.3394A>G (p.Met1132Val) c.3328A>G (p.Met1110Val) c.3388A>G (p.Met1130Val) c.3334A>G (p.Met1112Val) c.3259A>G (p.Met1087Val) c.2854A>G (p.Met952Val) c.2212A>G (p.Met738Val) n.3637A>G | dbSNP gnomAD v4 COSMIC COSMIC |
10 | g.71709190A>T | CA377143389 | CDH23 | c.3199A>T (p.Met1067Leu) c.2630A>T c.3214A>T (p.Met1072Leu) c.1974A>T c.3394A>T (p.Met1132Leu) c.3328A>T (p.Met1110Leu) c.3388A>T (p.Met1130Leu) c.3334A>T (p.Met1112Leu) c.3259A>T (p.Met1087Leu) c.2854A>T (p.Met952Leu) c.2212A>T (p.Met738Leu) n.3637A>T | gnomAD v4 |
10 | g.71709191T>A | CA377143391 | CDH23 | c.3200T>A (p.Met1067Lys) c.2631T>A c.3215T>A (p.Met1072Lys) c.1975T>A c.3395T>A (p.Met1132Lys) c.3329T>A (p.Met1110Lys) c.3389T>A (p.Met1130Lys) c.3335T>A (p.Met1112Lys) c.3260T>A (p.Met1087Lys) c.2855T>A (p.Met952Lys) c.2213T>A (p.Met738Lys) n.3638T>A | |
10 | g.71709191T>C | CA377143393 | CDH23 | c.3200T>C (p.Met1067Thr) c.2631T>C c.3215T>C (p.Met1072Thr) c.1975T>C c.3395T>C (p.Met1132Thr) c.3329T>C (p.Met1110Thr) c.3389T>C (p.Met1130Thr) c.3335T>C (p.Met1112Thr) c.3260T>C (p.Met1087Thr) c.2855T>C (p.Met952Thr) c.2213T>C (p.Met738Thr) n.3638T>C | dbSNP gnomAD v4 |
10 | g.71709191T>G | CA377143394 | CDH23 | c.3200T>G (p.Met1067Arg) c.2631T>G c.3215T>G (p.Met1072Arg) c.1975T>G c.3395T>G (p.Met1132Arg) c.3329T>G (p.Met1110Arg) c.3389T>G (p.Met1130Arg) c.3335T>G (p.Met1112Arg) c.3260T>G (p.Met1087Arg) c.2855T>G (p.Met952Arg) c.2213T>G (p.Met738Arg) n.3638T>G | |
10 | g.71709191T= | CA1918840980 | CDH23 | c.3200T= (p.Met1067=) c.2631T= c.3215T= (p.Met1072=) c.1975T= c.3395T= (p.Met1132=) c.3329T= (p.Met1110=) c.3389T= (p.Met1130=) c.3335T= (p.Met1112=) c.3260T= (p.Met1087=) c.2855T= (p.Met952=) c.2213T= (p.Met738=) n.3638T= | |
10 | g.71709192G>A | CA5544510 | CDH23 | c.3201G>A (p.Met1067Ile) c.2632G>A c.3216G>A (p.Met1072Ile) c.1976G>A c.3396G>A (p.Met1132Ile) c.3330G>A (p.Met1110Ile) c.3390G>A (p.Met1130Ile) c.3336G>A (p.Met1112Ile) c.3261G>A (p.Met1087Ile) c.2856G>A (p.Met952Ile) c.2214G>A (p.Met738Ile) n.3639G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71709192G>C | CA377143397 | CDH23 | c.3201G>C (p.Met1067Ile) c.2632G>C c.3216G>C (p.Met1072Ile) c.1976G>C c.3396G>C (p.Met1132Ile) c.3330G>C (p.Met1110Ile) c.3390G>C (p.Met1130Ile) c.3336G>C (p.Met1112Ile) c.3261G>C (p.Met1087Ile) c.2856G>C (p.Met952Ile) c.2214G>C (p.Met738Ile) n.3639G>C | |
10 | g.71709192G= | CA1918840983 | CDH23 | c.3201G= (p.Met1067=) c.2632G= c.3216G= (p.Met1072=) c.1976G= c.3396G= (p.Met1132=) c.3330G= (p.Met1110=) c.3390G= (p.Met1130=) c.3336G= (p.Met1112=) c.3261G= (p.Met1087=) c.2856G= (p.Met952=) c.2214G= (p.Met738=) n.3639G= | |
10 | g.71709192G>T | CA377143396 | CDH23 | c.3201G>T (p.Met1067Ile) c.2632G>T c.3216G>T (p.Met1072Ile) c.1976G>T c.3396G>T (p.Met1132Ile) c.3330G>T (p.Met1110Ile) c.3390G>T (p.Met1130Ile) c.3336G>T (p.Met1112Ile) c.3261G>T (p.Met1087Ile) c.2856G>T (p.Met952Ile) c.2214G>T (p.Met738Ile) n.3639G>T | |
10 | g.71709193C>A | CA377143400 | CDH23 | c.3202C>A (p.Leu1068Ile) c.2633C>A c.3217C>A (p.Leu1073Ile) c.1977C>A c.3397C>A (p.Leu1133Ile) c.3331C>A (p.Leu1111Ile) c.3391C>A (p.Leu1131Ile) c.3337C>A (p.Leu1113Ile) c.3262C>A (p.Leu1088Ile) c.2857C>A (p.Leu953Ile) c.2215C>A (p.Leu739Ile) n.3640C>A | |
10 | g.71709193C>G | CA377143401 | CDH23 | c.3202C>G (p.Leu1068Val) c.2633C>G c.3217C>G (p.Leu1073Val) c.1977C>G c.3397C>G (p.Leu1133Val) c.3331C>G (p.Leu1111Val) c.3391C>G (p.Leu1131Val) c.3337C>G (p.Leu1113Val) c.3262C>G (p.Leu1088Val) c.2857C>G (p.Leu953Val) c.2215C>G (p.Leu739Val) n.3640C>G | |
10 | g.71709193C>T | CA377143403 | CDH23 | c.3202C>T (p.Leu1068Phe) c.2633C>T c.3217C>T (p.Leu1073Phe) c.1977C>T c.3397C>T (p.Leu1133Phe) c.3331C>T (p.Leu1111Phe) c.3391C>T (p.Leu1131Phe) c.3337C>T (p.Leu1113Phe) c.3262C>T (p.Leu1088Phe) c.2857C>T (p.Leu953Phe) c.2215C>T (p.Leu739Phe) n.3640C>T | gnomAD v4 |
10 | g.71709194T>A | CA377143404 | CDH23 | c.3203T>A (p.Leu1068His) c.2634T>A c.3218T>A (p.Leu1073His) c.1978T>A c.3398T>A (p.Leu1133His) c.3332T>A (p.Leu1111His) c.3392T>A (p.Leu1131His) c.3338T>A (p.Leu1113His) c.3263T>A (p.Leu1088His) c.2858T>A (p.Leu953His) c.2216T>A (p.Leu739His) n.3641T>A | dbSNP gnomAD v4 |
10 | g.71709194T>C | CA377143405 | CDH23 | c.3203T>C (p.Leu1068Pro) c.2634T>C c.3218T>C (p.Leu1073Pro) c.1978T>C c.3398T>C (p.Leu1133Pro) c.3332T>C (p.Leu1111Pro) c.3392T>C (p.Leu1131Pro) c.3338T>C (p.Leu1113Pro) c.3263T>C (p.Leu1088Pro) c.2858T>C (p.Leu953Pro) c.2216T>C (p.Leu739Pro) n.3641T>C | |
10 | g.71709194T>G | CA377143407 | CDH23 | c.3203T>G (p.Leu1068Arg) c.2634T>G c.3218T>G (p.Leu1073Arg) c.1978T>G c.3398T>G (p.Leu1133Arg) c.3332T>G (p.Leu1111Arg) c.3392T>G (p.Leu1131Arg) c.3338T>G (p.Leu1113Arg) c.3263T>G (p.Leu1088Arg) c.2858T>G (p.Leu953Arg) c.2216T>G (p.Leu739Arg) n.3641T>G | |
10 | g.71709194T= | CA1918840987 | CDH23 | c.3203T= (p.Leu1068=) c.2634T= c.3218T= (p.Leu1073=) c.1978T= c.3398T= (p.Leu1133=) c.3332T= (p.Leu1111=) c.3392T= (p.Leu1131=) c.3338T= (p.Leu1113=) c.3263T= (p.Leu1088=) c.2858T= (p.Leu953=) c.2216T= (p.Leu739=) n.3641T= | |
10 | g.71709195C>A | CA470062422 | CDH23 | c.3204C>A (p.Leu1068=) c.2635C>A c.3219C>A (p.Leu1073=) c.1979C>A c.3399C>A (p.Leu1133=) c.3333C>A (p.Leu1111=) c.3393C>A (p.Leu1131=) c.3339C>A (p.Leu1113=) c.3264C>A (p.Leu1088=) c.2859C>A (p.Leu953=) c.2217C>A (p.Leu739=) n.3642C>A | |
10 | g.71709195C= | CA1918840989 | CDH23 | c.3204C= (p.Leu1068=) c.2635C= c.3219C= (p.Leu1073=) c.1979C= c.3399C= (p.Leu1133=) c.3333C= (p.Leu1111=) c.3393C= (p.Leu1131=) c.3339C= (p.Leu1113=) c.3264C= (p.Leu1088=) c.2859C= (p.Leu953=) c.2217C= (p.Leu739=) n.3642C= | |
10 | g.71709195C>G | CA470062423 | CDH23 | c.3204C>G (p.Leu1068=) c.2635C>G c.3219C>G (p.Leu1073=) c.1979C>G c.3399C>G (p.Leu1133=) c.3333C>G (p.Leu1111=) c.3393C>G (p.Leu1131=) c.3339C>G (p.Leu1113=) c.3264C>G (p.Leu1088=) c.2859C>G (p.Leu953=) c.2217C>G (p.Leu739=) n.3642C>G | |
10 | g.71709195C>T | CA470062424 | CDH23 | c.3204C>T (p.Leu1068=) c.2635C>T c.3219C>T (p.Leu1073=) c.1979C>T c.3399C>T (p.Leu1133=) c.3333C>T (p.Leu1111=) c.3393C>T (p.Leu1131=) c.3339C>T (p.Leu1113=) c.3264C>T (p.Leu1088=) c.2859C>T (p.Leu953=) c.2217C>T (p.Leu739=) n.3642C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709196A>C | CA377143408 | CDH23 | c.3205A>C (p.Ile1069Leu) c.2636A>C c.3220A>C (p.Ile1074Leu) c.1980A>C c.3400A>C (p.Ile1134Leu) c.3334A>C (p.Ile1112Leu) c.3394A>C (p.Ile1132Leu) c.3340A>C (p.Ile1114Leu) c.3265A>C (p.Ile1089Leu) c.2860A>C (p.Ile954Leu) c.2218A>C (p.Ile740Leu) n.3643A>C | gnomAD v4 |
10 | g.71709196A>G | CA377143411 | CDH23 | c.3205A>G (p.Ile1069Val) c.2636A>G c.3220A>G (p.Ile1074Val) c.1980A>G c.3400A>G (p.Ile1134Val) c.3334A>G (p.Ile1112Val) c.3394A>G (p.Ile1132Val) c.3340A>G (p.Ile1114Val) c.3265A>G (p.Ile1089Val) c.2860A>G (p.Ile954Val) c.2218A>G (p.Ile740Val) n.3643A>G | |
10 | g.71709196A>T | CA377143410 | CDH23 | c.3205A>T (p.Ile1069Phe) c.2636A>T c.3220A>T (p.Ile1074Phe) c.1980A>T c.3400A>T (p.Ile1134Phe) c.3334A>T (p.Ile1112Phe) c.3394A>T (p.Ile1132Phe) c.3340A>T (p.Ile1114Phe) c.3265A>T (p.Ile1089Phe) c.2860A>T (p.Ile954Phe) c.2218A>T (p.Ile740Phe) n.3643A>T | gnomAD v4 |
10 | g.71709197T>A | CA377143412 | CDH23 | c.3206T>A (p.Ile1069Asn) c.2637T>A c.3221T>A (p.Ile1074Asn) c.1981T>A c.3401T>A (p.Ile1134Asn) c.3335T>A (p.Ile1112Asn) c.3395T>A (p.Ile1132Asn) c.3341T>A (p.Ile1114Asn) c.3266T>A (p.Ile1089Asn) c.2861T>A (p.Ile954Asn) c.2219T>A (p.Ile740Asn) n.3644T>A | |
10 | g.71709197T>C | CA377143414 | CDH23 | c.3206T>C (p.Ile1069Thr) c.2637T>C c.3221T>C (p.Ile1074Thr) c.1981T>C c.3401T>C (p.Ile1134Thr) c.3335T>C (p.Ile1112Thr) c.3395T>C (p.Ile1132Thr) c.3341T>C (p.Ile1114Thr) c.3266T>C (p.Ile1089Thr) c.2861T>C (p.Ile954Thr) c.2219T>C (p.Ile740Thr) n.3644T>C | |
10 | g.71709197T>G | CA209462231 | CDH23 | c.3206T>G (p.Ile1069Ser) c.2637T>G c.3221T>G (p.Ile1074Ser) c.1981T>G c.3401T>G (p.Ile1134Ser) c.3335T>G (p.Ile1112Ser) c.3395T>G (p.Ile1132Ser) c.3341T>G (p.Ile1114Ser) c.3266T>G (p.Ile1089Ser) c.2861T>G (p.Ile954Ser) c.2219T>G (p.Ile740Ser) n.3644T>G | dbSNP |
10 | g.71709197T= | CA1918840993 | CDH23 | c.3206T= (p.Ile1069=) c.2637T= c.3221T= (p.Ile1074=) c.1981T= c.3401T= (p.Ile1134=) c.3335T= (p.Ile1112=) c.3395T= (p.Ile1132=) c.3341T= (p.Ile1114=) c.3266T= (p.Ile1089=) c.2861T= (p.Ile954=) c.2219T= (p.Ile740=) n.3644T= | |
10 | g.71709198C>A | CA470062425 | CDH23 | c.3207C>A (p.Ile1069=) c.2638C>A c.3222C>A (p.Ile1074=) c.1982C>A c.3402C>A (p.Ile1134=) c.3336C>A (p.Ile1112=) c.3396C>A (p.Ile1132=) c.3342C>A (p.Ile1114=) c.3267C>A (p.Ile1089=) c.2862C>A (p.Ile954=) c.2220C>A (p.Ile740=) n.3645C>A | |
10 | g.71709198C= | CA1918840994 | CDH23 | c.3207C= (p.Ile1069=) c.2638C= c.3222C= (p.Ile1074=) c.1982C= c.3402C= (p.Ile1134=) c.3336C= (p.Ile1112=) c.3396C= (p.Ile1132=) c.3342C= (p.Ile1114=) c.3267C= (p.Ile1089=) c.2862C= (p.Ile954=) c.2220C= (p.Ile740=) n.3645C= | |
10 | g.71709198C>G | CA377143416 | CDH23 | c.3207C>G (p.Ile1069Met) c.2638C>G c.3222C>G (p.Ile1074Met) c.1982C>G c.3402C>G (p.Ile1134Met) c.3336C>G (p.Ile1112Met) c.3396C>G (p.Ile1132Met) c.3342C>G (p.Ile1114Met) c.3267C>G (p.Ile1089Met) c.2862C>G (p.Ile954Met) c.2220C>G (p.Ile740Met) n.3645C>G | |
10 | g.71709198C>T | CA5544511 | CDH23 | c.3207C>T (p.Ile1069=) c.2638C>T c.3222C>T (p.Ile1074=) c.1982C>T c.3402C>T (p.Ile1134=) c.3336C>T (p.Ile1112=) c.3396C>T (p.Ile1132=) c.3342C>T (p.Ile1114=) c.3267C>T (p.Ile1089=) c.2862C>T (p.Ile954=) c.2220C>T (p.Ile740=) n.3645C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71709199C>A | CA377143417 | CDH23 | c.3208C>A (p.Leu1070Met) c.2639C>A c.3223C>A (p.Leu1075Met) c.1983C>A c.3403C>A (p.Leu1135Met) c.3337C>A (p.Leu1113Met) c.3397C>A (p.Leu1133Met) c.3343C>A (p.Leu1115Met) c.3268C>A (p.Leu1090Met) c.2863C>A (p.Leu955Met) c.2221C>A (p.Leu741Met) n.3646C>A | |
10 | g.71709199C= | CA1918840995 | CDH23 | c.3208C= (p.Leu1070=) c.2639C= c.3223C= (p.Leu1075=) c.1983C= c.3403C= (p.Leu1135=) c.3337C= (p.Leu1113=) c.3397C= (p.Leu1133=) c.3343C= (p.Leu1115=) c.3268C= (p.Leu1090=) c.2863C= (p.Leu955=) c.2221C= (p.Leu741=) n.3646C= | |
10 | g.71709199C>G | CA377143419 | CDH23 | c.3208C>G (p.Leu1070Val) c.2639C>G c.3223C>G (p.Leu1075Val) c.1983C>G c.3403C>G (p.Leu1135Val) c.3337C>G (p.Leu1113Val) c.3397C>G (p.Leu1133Val) c.3343C>G (p.Leu1115Val) c.3268C>G (p.Leu1090Val) c.2863C>G (p.Leu955Val) c.2221C>G (p.Leu741Val) n.3646C>G | |
10 | g.71709199C>T | CA5544512 | CDH23 | c.3208C>T (p.Leu1070=) c.2639C>T c.3223C>T (p.Leu1075=) c.1983C>T c.3403C>T (p.Leu1135=) c.3337C>T (p.Leu1113=) c.3397C>T (p.Leu1133=) c.3343C>T (p.Leu1115=) c.3268C>T (p.Leu1090=) c.2863C>T (p.Leu955=) c.2221C>T (p.Leu741=) n.3646C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709200T>A | CA377143421 | CDH23 | c.3209T>A (p.Leu1070Gln) c.2640T>A c.3224T>A (p.Leu1075Gln) c.1984T>A c.3404T>A (p.Leu1135Gln) c.3338T>A (p.Leu1113Gln) c.3398T>A (p.Leu1133Gln) c.3344T>A (p.Leu1115Gln) c.3269T>A (p.Leu1090Gln) c.2864T>A (p.Leu955Gln) c.2222T>A (p.Leu741Gln) n.3647T>A | |
10 | g.71709200T>C | CA209462257 | CDH23 | c.3209T>C (p.Leu1070Pro) c.2640T>C c.3224T>C (p.Leu1075Pro) c.1984T>C c.3404T>C (p.Leu1135Pro) c.3338T>C (p.Leu1113Pro) c.3398T>C (p.Leu1133Pro) c.3344T>C (p.Leu1115Pro) c.3269T>C (p.Leu1090Pro) c.2864T>C (p.Leu955Pro) c.2222T>C (p.Leu741Pro) n.3647T>C | dbSNP |
10 | g.71709200T>G | CA377143423 | CDH23 | c.3209T>G (p.Leu1070Arg) c.2640T>G c.3224T>G (p.Leu1075Arg) c.1984T>G c.3404T>G (p.Leu1135Arg) c.3338T>G (p.Leu1113Arg) c.3398T>G (p.Leu1133Arg) c.3344T>G (p.Leu1115Arg) c.3269T>G (p.Leu1090Arg) c.2864T>G (p.Leu955Arg) c.2222T>G (p.Leu741Arg) n.3647T>G | |
10 | g.71709200T= | CA1918840998 | CDH23 | c.3209T= (p.Leu1070=) c.2640T= c.3224T= (p.Leu1075=) c.1984T= c.3404T= (p.Leu1135=) c.3338T= (p.Leu1113=) c.3398T= (p.Leu1133=) c.3344T= (p.Leu1115=) c.3269T= (p.Leu1090=) c.2864T= (p.Leu955=) c.2222T= (p.Leu741=) n.3647T= | |
10 | g.71709201G>A | CA470062428 | CDH23 | c.3210G>A (p.Leu1070=) c.2641G>A c.3225G>A (p.Leu1075=) c.1985G>A c.3405G>A (p.Leu1135=) c.3339G>A (p.Leu1113=) c.3399G>A (p.Leu1133=) c.3345G>A (p.Leu1115=) c.3270G>A (p.Leu1090=) c.2865G>A (p.Leu955=) c.2223G>A (p.Leu741=) n.3648G>A | |
10 | g.71709201G>C | CA470062427 | CDH23 | c.3210G>C (p.Leu1070=) c.2641G>C c.3225G>C (p.Leu1075=) c.1985G>C c.3405G>C (p.Leu1135=) c.3339G>C (p.Leu1113=) c.3399G>C (p.Leu1133=) c.3345G>C (p.Leu1115=) c.3270G>C (p.Leu1090=) c.2865G>C (p.Leu955=) c.2223G>C (p.Leu741=) n.3648G>C | |
10 | g.71709201G>T | CA470062426 | CDH23 | c.3210G>T (p.Leu1070=) c.2641G>T c.3225G>T (p.Leu1075=) c.1985G>T c.3405G>T (p.Leu1135=) c.3339G>T (p.Leu1113=) c.3399G>T (p.Leu1133=) c.3345G>T (p.Leu1115=) c.3270G>T (p.Leu1090=) c.2865G>T (p.Leu955=) c.2223G>T (p.Leu741=) n.3648G>T | |
10 | g.71709202G>A | CA377143425 | CDH23 | c.3211G>A (p.Glu1071Lys) c.2642G>A c.3226G>A (p.Glu1076Lys) c.1986G>A c.3406G>A (p.Glu1136Lys) c.3340G>A (p.Glu1114Lys) c.3400G>A (p.Glu1134Lys) c.3346G>A (p.Glu1116Lys) c.3271G>A (p.Glu1091Lys) c.2866G>A (p.Glu956Lys) c.2224G>A (p.Glu742Lys) n.3649G>A | ClinVar dbSNP |
10 | g.71709202G>C | CA377143428 | CDH23 | c.3211G>C (p.Glu1071Gln) c.2642G>C c.3226G>C (p.Glu1076Gln) c.1986G>C c.3406G>C (p.Glu1136Gln) c.3340G>C (p.Glu1114Gln) c.3400G>C (p.Glu1134Gln) c.3346G>C (p.Glu1116Gln) c.3271G>C (p.Glu1091Gln) c.2866G>C (p.Glu956Gln) c.2224G>C (p.Glu742Gln) n.3649G>C | |
10 | g.71709202G>T | CA377143427 | CDH23 | c.3211G>T (p.Glu1071Ter) c.2642G>T c.3226G>T (p.Glu1076Ter) c.1986G>T c.3406G>T (p.Glu1136Ter) c.3340G>T (p.Glu1114Ter) c.3400G>T (p.Glu1134Ter) c.3346G>T (p.Glu1116Ter) c.3271G>T (p.Glu1091Ter) c.2866G>T (p.Glu956Ter) c.2224G>T (p.Glu742Ter) n.3649G>T | |
10 | g.71709203A>C | CA377143429 | CDH23 | c.3212A>C (p.Glu1071Ala) c.2643A>C c.3227A>C (p.Glu1076Ala) c.1987A>C c.3407A>C (p.Glu1136Ala) c.3341A>C (p.Glu1114Ala) c.3401A>C (p.Glu1134Ala) c.3347A>C (p.Glu1116Ala) c.3272A>C (p.Glu1091Ala) c.2867A>C (p.Glu956Ala) c.2225A>C (p.Glu742Ala) n.3650A>C | |
10 | g.71709203A>G | CA377143431 | CDH23 | c.3212A>G (p.Glu1071Gly) c.2643A>G c.3227A>G (p.Glu1076Gly) c.1987A>G c.3407A>G (p.Glu1136Gly) c.3341A>G (p.Glu1114Gly) c.3401A>G (p.Glu1134Gly) c.3347A>G (p.Glu1116Gly) c.3272A>G (p.Glu1091Gly) c.2867A>G (p.Glu956Gly) c.2225A>G (p.Glu742Gly) n.3650A>G | |
10 | g.71709203A>T | CA377143433 | CDH23 | c.3212A>T (p.Glu1071Val) c.2643A>T c.3227A>T (p.Glu1076Val) c.1987A>T c.3407A>T (p.Glu1136Val) c.3341A>T (p.Glu1114Val) c.3401A>T (p.Glu1134Val) c.3347A>T (p.Glu1116Val) c.3272A>T (p.Glu1091Val) c.2867A>T (p.Glu956Val) c.2225A>T (p.Glu742Val) n.3650A>T | |
10 | g.71709204G>A | CA5544513 | CDH23 | c.3213G>A (p.Glu1071=) c.2644G>A c.3228G>A (p.Glu1076=) c.1988G>A c.3408G>A (p.Glu1136=) c.3342G>A (p.Glu1114=) c.3402G>A (p.Glu1134=) c.3348G>A (p.Glu1116=) c.3273G>A (p.Glu1091=) c.2868G>A (p.Glu956=) c.2226G>A (p.Glu742=) n.3651G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709204G>C | CA377143435 | CDH23 | c.3213G>C (p.Glu1071Asp) c.2644G>C c.3228G>C (p.Glu1076Asp) c.1988G>C c.3408G>C (p.Glu1136Asp) c.3342G>C (p.Glu1114Asp) c.3402G>C (p.Glu1134Asp) c.3348G>C (p.Glu1116Asp) c.3273G>C (p.Glu1091Asp) c.2868G>C (p.Glu956Asp) c.2226G>C (p.Glu742Asp) n.3651G>C | |
10 | g.71709204G= | CA1918841000 | CDH23 | c.3213G= (p.Glu1071=) c.2644G= c.3228G= (p.Glu1076=) c.1988G= c.3408G= (p.Glu1136=) c.3342G= (p.Glu1114=) c.3402G= (p.Glu1134=) c.3348G= (p.Glu1116=) c.3273G= (p.Glu1091=) c.2868G= (p.Glu956=) c.2226G= (p.Glu742=) n.3651G= | |
10 | g.71709204G>T | CA377143437 | CDH23 | c.3213G>T (p.Glu1071Asp) c.2644G>T c.3228G>T (p.Glu1076Asp) c.1988G>T c.3408G>T (p.Glu1136Asp) c.3342G>T (p.Glu1114Asp) c.3402G>T (p.Glu1134Asp) c.3348G>T (p.Glu1116Asp) c.3273G>T (p.Glu1091Asp) c.2868G>T (p.Glu956Asp) c.2226G>T (p.Glu742Asp) n.3651G>T | |
10 | g.71709205G>A | CA377143439 | CDH23 | c.3214G>A (p.Ala1072Thr) c.2645G>A c.3229G>A (p.Ala1077Thr) c.1989G>A c.3409G>A (p.Ala1137Thr) c.3343G>A (p.Ala1115Thr) c.3403G>A (p.Ala1135Thr) c.3349G>A (p.Ala1117Thr) c.3274G>A (p.Ala1092Thr) c.2869G>A (p.Ala957Thr) c.2227G>A (p.Ala743Thr) n.3652G>A | |
10 | g.71709205G>C | CA377143440 | CDH23 | c.3214G>C (p.Ala1072Pro) c.2645G>C c.3229G>C (p.Ala1077Pro) c.1989G>C c.3409G>C (p.Ala1137Pro) c.3343G>C (p.Ala1115Pro) c.3403G>C (p.Ala1135Pro) c.3349G>C (p.Ala1117Pro) c.3274G>C (p.Ala1092Pro) c.2869G>C (p.Ala957Pro) c.2227G>C (p.Ala743Pro) n.3652G>C | |
10 | g.71709205G>T | CA377143442 | CDH23 | c.3214G>T (p.Ala1072Ser) c.2645G>T c.3229G>T (p.Ala1077Ser) c.1989G>T c.3409G>T (p.Ala1137Ser) c.3343G>T (p.Ala1115Ser) c.3403G>T (p.Ala1135Ser) c.3349G>T (p.Ala1117Ser) c.3274G>T (p.Ala1092Ser) c.2869G>T (p.Ala957Ser) c.2227G>T (p.Ala743Ser) n.3652G>T | |
10 | g.71709206C>A | CA377143443 | CDH23 | c.3215C>A (p.Ala1072Asp) c.2646C>A c.3230C>A (p.Ala1077Asp) c.1990C>A c.3410C>A (p.Ala1137Asp) c.3344C>A (p.Ala1115Asp) c.3404C>A (p.Ala1135Asp) c.3350C>A (p.Ala1117Asp) c.3275C>A (p.Ala1092Asp) c.2870C>A (p.Ala957Asp) c.2228C>A (p.Ala743Asp) n.3653C>A | ClinVar dbSNP |
10 | g.71709206C>G | CA377143444 | CDH23 | c.3215C>G (p.Ala1072Gly) c.2646C>G c.3230C>G (p.Ala1077Gly) c.1990C>G c.3410C>G (p.Ala1137Gly) c.3344C>G (p.Ala1115Gly) c.3404C>G (p.Ala1135Gly) c.3350C>G (p.Ala1117Gly) c.3275C>G (p.Ala1092Gly) c.2870C>G (p.Ala957Gly) c.2228C>G (p.Ala743Gly) n.3653C>G | |
10 | g.71709206C>T | CA377143446 | CDH23 | c.3215C>T (p.Ala1072Val) c.2646C>T c.3230C>T (p.Ala1077Val) c.1990C>T c.3410C>T (p.Ala1137Val) c.3344C>T (p.Ala1115Val) c.3404C>T (p.Ala1135Val) c.3350C>T (p.Ala1117Val) c.3275C>T (p.Ala1092Val) c.2870C>T (p.Ala957Val) c.2228C>T (p.Ala743Val) n.3653C>T | |
10 | g.71709207C>A | CA470062429 | CDH23 | c.3216C>A (p.Ala1072=) c.2647C>A c.3231C>A (p.Ala1077=) c.1991C>A c.3411C>A (p.Ala1137=) c.3345C>A (p.Ala1115=) c.3405C>A (p.Ala1135=) c.3351C>A (p.Ala1117=) c.3276C>A (p.Ala1092=) c.2871C>A (p.Ala957=) c.2229C>A (p.Ala743=) n.3654C>A | |
10 | g.71709207C>G | CA470062430 | CDH23 | c.3216C>G (p.Ala1072=) c.2647C>G c.3231C>G (p.Ala1077=) c.1991C>G c.3411C>G (p.Ala1137=) c.3345C>G (p.Ala1115=) c.3405C>G (p.Ala1135=) c.3351C>G (p.Ala1117=) c.3276C>G (p.Ala1092=) c.2871C>G (p.Ala957=) c.2229C>G (p.Ala743=) n.3654C>G | |
10 | g.71709207C>T | CA470062432 | CDH23 | c.3216C>T (p.Ala1072=) c.2647C>T c.3231C>T (p.Ala1077=) c.1991C>T c.3411C>T (p.Ala1137=) c.3345C>T (p.Ala1115=) c.3405C>T (p.Ala1135=) c.3351C>T (p.Ala1117=) c.3276C>T (p.Ala1092=) c.2871C>T (p.Ala957=) c.2229C>T (p.Ala743=) n.3654C>T | |
10 | g.71709208A= | CA1918841006 | CDH23 | c.3217A= (p.Ile1073=) c.2648A= c.3232A= (p.Ile1078=) c.1992A= c.3412A= (p.Ile1138=) c.3346A= (p.Ile1116=) c.3406A= (p.Ile1136=) c.3352A= (p.Ile1118=) c.3277A= (p.Ile1093=) c.2872A= (p.Ile958=) c.2230A= (p.Ile744=) n.3655A= | |
10 | g.71709208A>C | CA377143451 | CDH23 | c.3217A>C (p.Ile1073Leu) c.2648A>C c.3232A>C (p.Ile1078Leu) c.1992A>C c.3412A>C (p.Ile1138Leu) c.3346A>C (p.Ile1116Leu) c.3406A>C (p.Ile1136Leu) c.3352A>C (p.Ile1118Leu) c.3277A>C (p.Ile1093Leu) c.2872A>C (p.Ile958Leu) c.2230A>C (p.Ile744Leu) n.3655A>C | |
10 | g.71709208A>G | CA377143448 | CDH23 | c.3217A>G (p.Ile1073Val) c.2648A>G c.3232A>G (p.Ile1078Val) c.1992A>G c.3412A>G (p.Ile1138Val) c.3346A>G (p.Ile1116Val) c.3406A>G (p.Ile1136Val) c.3352A>G (p.Ile1118Val) c.3277A>G (p.Ile1093Val) c.2872A>G (p.Ile958Val) c.2230A>G (p.Ile744Val) n.3655A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709208A>T | CA377143449 | CDH23 | c.3217A>T (p.Ile1073Phe) c.2648A>T c.3232A>T (p.Ile1078Phe) c.1992A>T c.3412A>T (p.Ile1138Phe) c.3346A>T (p.Ile1116Phe) c.3406A>T (p.Ile1136Phe) c.3352A>T (p.Ile1118Phe) c.3277A>T (p.Ile1093Phe) c.2872A>T (p.Ile958Phe) c.2230A>T (p.Ile744Phe) n.3655A>T | |
10 | g.71709209T>A | CA377143452 | CDH23 | c.3218T>A (p.Ile1073Asn) c.2649T>A c.3233T>A (p.Ile1078Asn) c.1993T>A c.3413T>A (p.Ile1138Asn) c.3347T>A (p.Ile1116Asn) c.3407T>A (p.Ile1136Asn) c.3353T>A (p.Ile1118Asn) c.3278T>A (p.Ile1093Asn) c.2873T>A (p.Ile958Asn) c.2231T>A (p.Ile744Asn) n.3656T>A | |
10 | g.71709209T>C | CA377143453 | CDH23 | c.3218T>C (p.Ile1073Thr) c.2649T>C c.3233T>C (p.Ile1078Thr) c.1993T>C c.3413T>C (p.Ile1138Thr) c.3347T>C (p.Ile1116Thr) c.3407T>C (p.Ile1136Thr) c.3353T>C (p.Ile1118Thr) c.3278T>C (p.Ile1093Thr) c.2873T>C (p.Ile958Thr) c.2231T>C (p.Ile744Thr) n.3656T>C | |
10 | g.71709209T>G | CA377143455 | CDH23 | c.3218T>G (p.Ile1073Ser) c.2649T>G c.3233T>G (p.Ile1078Ser) c.1993T>G c.3413T>G (p.Ile1138Ser) c.3347T>G (p.Ile1116Ser) c.3407T>G (p.Ile1136Ser) c.3353T>G (p.Ile1118Ser) c.3278T>G (p.Ile1093Ser) c.2873T>G (p.Ile958Ser) c.2231T>G (p.Ile744Ser) n.3656T>G | |
10 | g.71709210C>A | CA470062437 | CDH23 | c.3219C>A (p.Ile1073=) c.2650C>A c.3234C>A (p.Ile1078=) c.1994C>A c.3414C>A (p.Ile1138=) c.3348C>A (p.Ile1116=) c.3408C>A (p.Ile1136=) c.3354C>A (p.Ile1118=) c.3279C>A (p.Ile1093=) c.2874C>A (p.Ile958=) c.2232C>A (p.Ile744=) n.3657C>A | |
10 | g.71709210C= | CA1918841014 | CDH23 | c.3219C= (p.Ile1073=) c.2650C= c.3234C= (p.Ile1078=) c.1994C= c.3414C= (p.Ile1138=) c.3348C= (p.Ile1116=) c.3408C= (p.Ile1136=) c.3354C= (p.Ile1118=) c.3279C= (p.Ile1093=) c.2874C= (p.Ile958=) c.2232C= (p.Ile744=) n.3657C= | |
10 | g.71709210C>G | CA377143456 | CDH23 | c.3219C>G (p.Ile1073Met) c.2650C>G c.3234C>G (p.Ile1078Met) c.1994C>G c.3414C>G (p.Ile1138Met) c.3348C>G (p.Ile1116Met) c.3408C>G (p.Ile1136Met) c.3354C>G (p.Ile1118Met) c.3279C>G (p.Ile1093Met) c.2874C>G (p.Ile958Met) c.2232C>G (p.Ile744Met) n.3657C>G | |
10 | g.71709210C>T | CA5544514 | CDH23 | c.3219C>T (p.Ile1073=) c.2650C>T c.3234C>T (p.Ile1078=) c.1994C>T c.3414C>T (p.Ile1138=) c.3348C>T (p.Ile1116=) c.3408C>T (p.Ile1136=) c.3354C>T (p.Ile1118=) c.3279C>T (p.Ile1093=) c.2874C>T (p.Ile958=) c.2232C>T (p.Ile744=) n.3657C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
10 | g.71709211G>A | CA5544515 | CDH23 | c.3220G>A (p.Asp1074Asn) c.2651G>A c.3235G>A (p.Asp1079Asn) c.1995G>A c.3415G>A (p.Asp1139Asn) c.3349G>A (p.Asp1117Asn) c.3409G>A (p.Asp1137Asn) c.3355G>A (p.Asp1119Asn) c.3280G>A (p.Asp1094Asn) c.2875G>A (p.Asp959Asn) c.2233G>A (p.Asp745Asn) n.3658G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709211G>C | CA377143460 | CDH23 | c.3220G>C (p.Asp1074His) c.2651G>C c.3235G>C (p.Asp1079His) c.1995G>C c.3415G>C (p.Asp1139His) c.3349G>C (p.Asp1117His) c.3409G>C (p.Asp1137His) c.3355G>C (p.Asp1119His) c.3280G>C (p.Asp1094His) c.2875G>C (p.Asp959His) c.2233G>C (p.Asp745His) n.3658G>C | |
10 | g.71709211G= | CA1918841018 | CDH23 | c.3220G= (p.Asp1074=) c.2651G= c.3235G= (p.Asp1079=) c.1995G= c.3415G= (p.Asp1139=) c.3349G= (p.Asp1117=) c.3409G= (p.Asp1137=) c.3355G= (p.Asp1119=) c.3280G= (p.Asp1094=) c.2875G= (p.Asp959=) c.2233G= (p.Asp745=) n.3658G= | |
10 | g.71709211G>T | CA377143461 | CDH23 | c.3220G>T (p.Asp1074Tyr) c.2651G>T c.3235G>T (p.Asp1079Tyr) c.1995G>T c.3415G>T (p.Asp1139Tyr) c.3349G>T (p.Asp1117Tyr) c.3409G>T (p.Asp1137Tyr) c.3355G>T (p.Asp1119Tyr) c.3280G>T (p.Asp1094Tyr) c.2875G>T (p.Asp959Tyr) c.2233G>T (p.Asp745Tyr) n.3658G>T | COSMIC COSMIC |
10 | g.71709211_71709212insA | CA2788479385 | CDH23 | c.3220_3220+1insA (n.3220_3220+1insA) c.2651_2651+1insA c.3235_3235+1insA (n.3235_3235+1insA) c.1995_1995+1insA c.3415_3415+1insA (n.3415_3415+1insA) c.3349_3349+1insA (n.3349_3349+1insA) c.3409_3409+1insA (n.3409_3409+1insA) c.3355_3355+1insA (n.3355_3355+1insA) c.3280_3280+1insA (n.3280_3280+1insA) c.2875_2875+1insA (n.2875_2875+1insA) c.2233_2233+1insA (n.2233_2233+1insA) n.3658_3658+1insA | |
10 | g.71709212G>A | CA377143462 | CDH23 | c.3220+1G>A (n.3220+1G>A) c.2651+1G>A c.3235+1G>A (n.3235+1G>A) c.1995+1G>A c.3415+1G>A (n.3415+1G>A) c.3349+1G>A (n.3349+1G>A) c.3409+1G>A (n.3409+1G>A) c.3355+1G>A (n.3355+1G>A) c.3280+1G>A (n.3280+1G>A) c.2875+1G>A (n.2875+1G>A) c.2233+1G>A (n.2233+1G>A) n.3658+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709212G>C | CA377143464 | CDH23 | c.3220+1G>C (n.3220+1G>C) c.2651+1G>C c.3235+1G>C (n.3235+1G>C) c.1995+1G>C c.3415+1G>C (n.3415+1G>C) c.3349+1G>C (n.3349+1G>C) c.3409+1G>C (n.3409+1G>C) c.3355+1G>C (n.3355+1G>C) c.3280+1G>C (n.3280+1G>C) c.2875+1G>C (n.2875+1G>C) c.2233+1G>C (n.2233+1G>C) n.3658+1G>C | |
10 | g.71709212G= | CA1918841022 | CDH23 | c.3220+1G= (n.3220+1G=) c.2651+1G= c.3235+1G= (n.3235+1G=) c.1995+1G= c.3415+1G= (n.3415+1G=) c.3349+1G= (n.3349+1G=) c.3409+1G= (n.3409+1G=) c.3355+1G= (n.3355+1G=) c.3280+1G= (n.3280+1G=) c.2875+1G= (n.2875+1G=) c.2233+1G= (n.2233+1G=) n.3658+1G= | |
10 | g.71709212G>T | CA377143466 | CDH23 | c.3220+1G>T (n.3220+1G>T) c.2651+1G>T c.3235+1G>T (n.3235+1G>T) c.1995+1G>T c.3415+1G>T (n.3415+1G>T) c.3349+1G>T (n.3349+1G>T) c.3409+1G>T (n.3409+1G>T) c.3355+1G>T (n.3355+1G>T) c.3280+1G>T (n.3280+1G>T) c.2875+1G>T (n.2875+1G>T) c.2233+1G>T (n.2233+1G>T) n.3658+1G>T | ClinVar dbSNP gnomAD v4 |
10 | g.71709213T>A | CA377143468 | CDH23 | c.3220+2T>A (n.3220+2T>A) c.2651+2T>A c.3235+2T>A (n.3235+2T>A) c.1995+2T>A c.3415+2T>A (n.3415+2T>A) c.3349+2T>A (n.3349+2T>A) c.3409+2T>A (n.3409+2T>A) c.3355+2T>A (n.3355+2T>A) c.3280+2T>A (n.3280+2T>A) c.2875+2T>A (n.2875+2T>A) c.2233+2T>A (n.2233+2T>A) n.3658+2T>A | |
10 | g.71709213T>C | CA377143470 | CDH23 | c.3220+2T>C (n.3220+2T>C) c.2651+2T>C c.3235+2T>C (n.3235+2T>C) c.1995+2T>C c.3415+2T>C (n.3415+2T>C) c.3349+2T>C (n.3349+2T>C) c.3409+2T>C (n.3409+2T>C) c.3355+2T>C (n.3355+2T>C) c.3280+2T>C (n.3280+2T>C) c.2875+2T>C (n.2875+2T>C) c.2233+2T>C (n.2233+2T>C) n.3658+2T>C | |
10 | g.71709213T>G | CA377143467 | CDH23 | c.3220+2T>G (n.3220+2T>G) c.2651+2T>G c.3235+2T>G (n.3235+2T>G) c.1995+2T>G c.3415+2T>G (n.3415+2T>G) c.3349+2T>G (n.3349+2T>G) c.3409+2T>G (n.3409+2T>G) c.3355+2T>G (n.3355+2T>G) c.3280+2T>G (n.3280+2T>G) c.2875+2T>G (n.2875+2T>G) c.2233+2T>G (n.2233+2T>G) n.3658+2T>G | |
10 | g.71709215T>C | CA2609570109 | CDH23 | c.3220+4T>C (n.3220+4T>C) c.2651+4T>C c.3235+4T>C (n.3235+4T>C) c.1995+4T>C c.3415+4T>C (n.3415+4T>C) c.3349+4T>C (n.3349+4T>C) c.3409+4T>C (n.3409+4T>C) c.3355+4T>C (n.3355+4T>C) c.3280+4T>C (n.3280+4T>C) c.2875+4T>C (n.2875+4T>C) c.2233+4T>C (n.2233+4T>C) n.3658+4T>C | gnomAD v4 |
10 | g.71709216G>A | CA209462279 | CDH23 | c.3220+5G>A (n.3220+5G>A) c.2651+5G>A c.3235+5G>A (n.3235+5G>A) c.1995+5G>A c.3415+5G>A (n.3415+5G>A) c.3349+5G>A (n.3349+5G>A) c.3409+5G>A (n.3409+5G>A) c.3355+5G>A (n.3355+5G>A) c.3280+5G>A (n.3280+5G>A) c.2875+5G>A (n.2875+5G>A) c.2233+5G>A (n.2233+5G>A) n.3658+5G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709216G= | CA1918841027 | CDH23 | c.3220+5G= (n.3220+5G=) c.2651+5G= c.3235+5G= (n.3235+5G=) c.1995+5G= c.3415+5G= (n.3415+5G=) c.3349+5G= (n.3349+5G=) c.3409+5G= (n.3409+5G=) c.3355+5G= (n.3355+5G=) c.3280+5G= (n.3280+5G=) c.2875+5G= (n.2875+5G=) c.2233+5G= (n.2233+5G=) n.3658+5G= | |
10 | g.71709216G>T | CA2580081888 | CDH23 | c.3220+5G>T (n.3220+5G>T) c.2651+5G>T c.3235+5G>T (n.3235+5G>T) c.1995+5G>T c.3415+5G>T (n.3415+5G>T) c.3349+5G>T (n.3349+5G>T) c.3409+5G>T (n.3409+5G>T) c.3355+5G>T (n.3355+5G>T) c.3280+5G>T (n.3280+5G>T) c.2875+5G>T (n.2875+5G>T) c.2233+5G>T (n.2233+5G>T) n.3658+5G>T | ClinVar gnomAD v4 |
10 | g.71709217C>A | CA2609570117 | CDH23 | c.3220+6C>A (n.3220+6C>A) c.2651+6C>A c.3235+6C>A (n.3235+6C>A) c.1995+6C>A c.3415+6C>A (n.3415+6C>A) c.3349+6C>A (n.3349+6C>A) c.3409+6C>A (n.3409+6C>A) c.3355+6C>A (n.3355+6C>A) c.3280+6C>A (n.3280+6C>A) c.2875+6C>A (n.2875+6C>A) c.2233+6C>A (n.2233+6C>A) n.3658+6C>A | gnomAD v4 |
10 | g.71709219C>T | CA2609570118 | CDH23 | c.3220+8C>T (n.3220+8C>T) c.2651+8C>T c.3235+8C>T (n.3235+8C>T) c.1995+8C>T c.3415+8C>T (n.3415+8C>T) c.3349+8C>T (n.3349+8C>T) c.3409+8C>T (n.3409+8C>T) c.3355+8C>T (n.3355+8C>T) c.3280+8C>T (n.3280+8C>T) c.2875+8C>T (n.2875+8C>T) c.2233+8C>T (n.2233+8C>T) n.3658+8C>T | gnomAD v4 |
10 | g.71709220C>T | CA2609570119 | CDH23 | c.3220+9C>T (n.3220+9C>T) c.2651+9C>T c.3235+9C>T (n.3235+9C>T) c.1995+9C>T c.3415+9C>T (n.3415+9C>T) c.3349+9C>T (n.3349+9C>T) c.3409+9C>T (n.3409+9C>T) c.3355+9C>T (n.3355+9C>T) c.3280+9C>T (n.3280+9C>T) c.2875+9C>T (n.2875+9C>T) c.2233+9C>T (n.2233+9C>T) n.3658+9C>T | gnomAD v4 |
10 | g.71709220_71709221insTGG | CA2609570121 | CDH23 | c.3220+9_3220+10insTGG (n.3220+9_3220+10insTGG) c.2651+9_2651+10insTGG c.3235+9_3235+10insTGG (n.3235+9_3235+10insTGG) c.1995+9_1995+10insTGG c.3415+9_3415+10insTGG (n.3415+9_3415+10insTGG) c.3349+9_3349+10insTGG (n.3349+9_3349+10insTGG) c.3409+9_3409+10insTGG (n.3409+9_3409+10insTGG) c.3355+9_3355+10insTGG (n.3355+9_3355+10insTGG) c.3280+9_3280+10insTGG (n.3280+9_3280+10insTGG) c.2875+9_2875+10insTGG (n.2875+9_2875+10insTGG) c.2233+9_2233+10insTGG (n.2233+9_2233+10insTGG) n.3658+9_3658+10insTGG | gnomAD v4 |
10 | g.71709221A= | CA1918841031 | CDH23 | c.3220+10A= (n.3220+10A=) c.2651+10A= c.3235+10A= (n.3235+10A=) c.1995+10A= c.3415+10A= (n.3415+10A=) c.3349+10A= (n.3349+10A=) c.3409+10A= (n.3409+10A=) c.3355+10A= (n.3355+10A=) c.3280+10A= (n.3280+10A=) c.2875+10A= (n.2875+10A=) c.2233+10A= (n.2233+10A=) n.3658+10A= | |
10 | g.71709221A>C | CA1918841033 | CDH23 | c.3220+10A>C (n.3220+10A>C) c.2651+10A>C c.3235+10A>C (n.3235+10A>C) c.1995+10A>C c.3415+10A>C (n.3415+10A>C) c.3349+10A>C (n.3349+10A>C) c.3409+10A>C (n.3409+10A>C) c.3355+10A>C (n.3355+10A>C) c.3280+10A>C (n.3280+10A>C) c.2875+10A>C (n.2875+10A>C) c.2233+10A>C (n.2233+10A>C) n.3658+10A>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71709221A>G | CA668080020 | CDH23 | c.3220+10A>G (n.3220+10A>G) c.2651+10A>G c.3235+10A>G (n.3235+10A>G) c.1995+10A>G c.3415+10A>G (n.3415+10A>G) c.3349+10A>G (n.3349+10A>G) c.3409+10A>G (n.3409+10A>G) c.3355+10A>G (n.3355+10A>G) c.3280+10A>G (n.3280+10A>G) c.2875+10A>G (n.2875+10A>G) c.2233+10A>G (n.2233+10A>G) n.3658+10A>G | ClinVar dbSNP gnomAD v4 |
10 | g.71709222G>A | CA2609570127 | CDH23 | c.3220+11G>A (n.3220+11G>A) c.2651+11G>A c.3235+11G>A (n.3235+11G>A) c.1995+11G>A c.3415+11G>A (n.3415+11G>A) c.3349+11G>A (n.3349+11G>A) c.3409+11G>A (n.3409+11G>A) c.3355+11G>A (n.3355+11G>A) c.3280+11G>A (n.3280+11G>A) c.2875+11G>A (n.2875+11G>A) c.2233+11G>A (n.2233+11G>A) n.3658+11G>A | gnomAD v4 |
10 | g.71709222G= | CA1918841038 | CDH23 | c.3220+11G= (n.3220+11G=) c.2651+11G= c.3235+11G= (n.3235+11G=) c.1995+11G= c.3415+11G= (n.3415+11G=) c.3349+11G= (n.3349+11G=) c.3409+11G= (n.3409+11G=) c.3355+11G= (n.3355+11G=) c.3280+11G= (n.3280+11G=) c.2875+11G= (n.2875+11G=) c.2233+11G= (n.2233+11G=) n.3658+11G= | |
10 | g.71709222G>T | CA594320697 | CDH23 | c.3220+11G>T (n.3220+11G>T) c.2651+11G>T c.3235+11G>T (n.3235+11G>T) c.1995+11G>T c.3415+11G>T (n.3415+11G>T) c.3349+11G>T (n.3349+11G>T) c.3409+11G>T (n.3409+11G>T) c.3355+11G>T (n.3355+11G>T) c.3280+11G>T (n.3280+11G>T) c.2875+11G>T (n.2875+11G>T) c.2233+11G>T (n.2233+11G>T) n.3658+11G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709222_71709223insGCCATCGGTTGGTGGG | CA2609570126 | CDH23 | c.3220+11_3220+12insGCCATCGGTTGGTGGG (n.3220+11_3220+12insGCCATCGGTTGGTGGG) c.2651+11_2651+12insGCCATCGGTTGGTGGG c.3235+11_3235+12insGCCATCGGTTGGTGGG (n.3235+11_3235+12insGCCATCGGTTGGTGGG) c.1995+11_1995+12insGCCATCGGTTGGTGGG c.3415+11_3415+12insGCCATCGGTTGGTGGG (n.3415+11_3415+12insGCCATCGGTTGGTGGG) c.3349+11_3349+12insGCCATCGGTTGGTGGG (n.3349+11_3349+12insGCCATCGGTTGGTGGG) c.3409+11_3409+12insGCCATCGGTTGGTGGG (n.3409+11_3409+12insGCCATCGGTTGGTGGG) c.3355+11_3355+12insGCCATCGGTTGGTGGG (n.3355+11_3355+12insGCCATCGGTTGGTGGG) c.3280+11_3280+12insGCCATCGGTTGGTGGG (n.3280+11_3280+12insGCCATCGGTTGGTGGG) c.2875+11_2875+12insGCCATCGGTTGGTGGG (n.2875+11_2875+12insGCCATCGGTTGGTGGG) c.2233+11_2233+12insGCCATCGGTTGGTGGG (n.2233+11_2233+12insGCCATCGGTTGGTGGG) n.3658+11_3658+12insGCCATCGGTTGGTGGG | gnomAD v4 |
10 | g.71709223T>G | CA2574574954 | CDH23 | c.3220+12T>G (n.3220+12T>G) c.2651+12T>G c.3235+12T>G (n.3235+12T>G) c.1995+12T>G c.3415+12T>G (n.3415+12T>G) c.3349+12T>G (n.3349+12T>G) c.3409+12T>G (n.3409+12T>G) c.3355+12T>G (n.3355+12T>G) c.3280+12T>G (n.3280+12T>G) c.2875+12T>G (n.2875+12T>G) c.2233+12T>G (n.2233+12T>G) n.3658+12T>G | |
10 | g.71709224C>A | CA2609570129 | CDH23 | c.3220+13C>A (n.3220+13C>A) c.2651+13C>A c.3235+13C>A (n.3235+13C>A) c.1995+13C>A c.3415+13C>A (n.3415+13C>A) c.3349+13C>A (n.3349+13C>A) c.3409+13C>A (n.3409+13C>A) c.3355+13C>A (n.3355+13C>A) c.3280+13C>A (n.3280+13C>A) c.2875+13C>A (n.2875+13C>A) c.2233+13C>A (n.2233+13C>A) n.3658+13C>A | gnomAD v4 |
10 | g.71709224C= | CA1918841040 | CDH23 | c.3220+13C= (n.3220+13C=) c.2651+13C= c.3235+13C= (n.3235+13C=) c.1995+13C= c.3415+13C= (n.3415+13C=) c.3349+13C= (n.3349+13C=) c.3409+13C= (n.3409+13C=) c.3355+13C= (n.3355+13C=) c.3280+13C= (n.3280+13C=) c.2875+13C= (n.2875+13C=) c.2233+13C= (n.2233+13C=) n.3658+13C= | |
10 | g.71709224C>T | CA5544516 | CDH23 | c.3220+13C>T (n.3220+13C>T) c.2651+13C>T c.3235+13C>T (n.3235+13C>T) c.1995+13C>T c.3415+13C>T (n.3415+13C>T) c.3349+13C>T (n.3349+13C>T) c.3409+13C>T (n.3409+13C>T) c.3355+13C>T (n.3355+13C>T) c.3280+13C>T (n.3280+13C>T) c.2875+13C>T (n.2875+13C>T) c.2233+13C>T (n.2233+13C>T) n.3658+13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709226C>A | CA2580081891 | CDH23 | c.3220+15C>A (n.3220+15C>A) c.2651+15C>A c.3235+15C>A (n.3235+15C>A) c.1995+15C>A c.3415+15C>A (n.3415+15C>A) c.3349+15C>A (n.3349+15C>A) c.3409+15C>A (n.3409+15C>A) c.3355+15C>A (n.3355+15C>A) c.3280+15C>A (n.3280+15C>A) c.2875+15C>A (n.2875+15C>A) c.2233+15C>A (n.2233+15C>A) n.3658+15C>A | ClinVar gnomAD v4 |
10 | g.71709226C= | CA1918841049 | CDH23 | c.3220+15C= (n.3220+15C=) c.2651+15C= c.3235+15C= (n.3235+15C=) c.1995+15C= c.3415+15C= (n.3415+15C=) c.3349+15C= (n.3349+15C=) c.3409+15C= (n.3409+15C=) c.3355+15C= (n.3355+15C=) c.3280+15C= (n.3280+15C=) c.2875+15C= (n.2875+15C=) c.2233+15C= (n.2233+15C=) n.3658+15C= | |
10 | g.71709226C>G | CA668080027 | CDH23 | c.3220+15C>G (n.3220+15C>G) c.2651+15C>G c.3235+15C>G (n.3235+15C>G) c.1995+15C>G c.3415+15C>G (n.3415+15C>G) c.3349+15C>G (n.3349+15C>G) c.3409+15C>G (n.3409+15C>G) c.3355+15C>G (n.3355+15C>G) c.3280+15C>G (n.3280+15C>G) c.2875+15C>G (n.2875+15C>G) c.2233+15C>G (n.2233+15C>G) n.3658+15C>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71709226C>T | CA175481 | CDH23 | c.3220+15C>T (n.3220+15C>T) c.2651+15C>T c.3235+15C>T (n.3235+15C>T) c.1995+15C>T c.3415+15C>T (n.3415+15C>T) c.3349+15C>T (n.3349+15C>T) c.3409+15C>T (n.3409+15C>T) c.3355+15C>T (n.3355+15C>T) c.3280+15C>T (n.3280+15C>T) c.2875+15C>T (n.2875+15C>T) c.2233+15C>T (n.2233+15C>T) n.3658+15C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709227G>A | CA5544517 | CDH23 | c.3220+16G>A (n.3220+16G>A) c.2651+16G>A c.3235+16G>A (n.3235+16G>A) c.1995+16G>A c.3415+16G>A (n.3415+16G>A) c.3349+16G>A (n.3349+16G>A) c.3409+16G>A (n.3409+16G>A) c.3355+16G>A (n.3355+16G>A) c.3280+16G>A (n.3280+16G>A) c.2875+16G>A (n.2875+16G>A) c.2233+16G>A (n.2233+16G>A) n.3658+16G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71709227G>C | CA2788479387 | CDH23 | c.3220+16G>C (n.3220+16G>C) c.2651+16G>C c.3235+16G>C (n.3235+16G>C) c.1995+16G>C c.3415+16G>C (n.3415+16G>C) c.3349+16G>C (n.3349+16G>C) c.3409+16G>C (n.3409+16G>C) c.3355+16G>C (n.3355+16G>C) c.3280+16G>C (n.3280+16G>C) c.2875+16G>C (n.2875+16G>C) c.2233+16G>C (n.2233+16G>C) n.3658+16G>C | |
10 | g.71709227G= | CA1918841052 | CDH23 | c.3220+16G= (n.3220+16G=) c.2651+16G= c.3235+16G= (n.3235+16G=) c.1995+16G= c.3415+16G= (n.3415+16G=) c.3349+16G= (n.3349+16G=) c.3409+16G= (n.3409+16G=) c.3355+16G= (n.3355+16G=) c.3280+16G= (n.3280+16G=) c.2875+16G= (n.2875+16G=) c.2233+16G= (n.2233+16G=) n.3658+16G= | |
10 | g.71709227G>T | CA2609570146 | CDH23 | c.3220+16G>T (n.3220+16G>T) c.2651+16G>T c.3235+16G>T (n.3235+16G>T) c.1995+16G>T c.3415+16G>T (n.3415+16G>T) c.3349+16G>T (n.3349+16G>T) c.3409+16G>T (n.3409+16G>T) c.3355+16G>T (n.3355+16G>T) c.3280+16G>T (n.3280+16G>T) c.2875+16G>T (n.2875+16G>T) c.2233+16G>T (n.2233+16G>T) n.3658+16G>T | gnomAD v4 |
10 | g.71709228del | CA2574574957 | CDH23 | c.3220+17del (n.3220+17del) c.2651+17del c.3235+17del (n.3235+17del) c.1995+17del c.3415+17del (n.3415+17del) c.3349+17del (n.3349+17del) c.3409+17del (n.3409+17del) c.3355+17del (n.3355+17del) c.3280+17del (n.3280+17del) c.2875+17del (n.2875+17del) c.2233+17del (n.2233+17del) n.3658+17del | |
10 | g.71709228C>A | CA2574574955 | CDH23 | c.3220+17C>A (n.3220+17C>A) c.2651+17C>A c.3235+17C>A (n.3235+17C>A) c.1995+17C>A c.3415+17C>A (n.3415+17C>A) c.3349+17C>A (n.3349+17C>A) c.3409+17C>A (n.3409+17C>A) c.3355+17C>A (n.3355+17C>A) c.3280+17C>A (n.3280+17C>A) c.2875+17C>A (n.2875+17C>A) c.2233+17C>A (n.2233+17C>A) n.3658+17C>A | |
10 | g.71709228C>T | CA2574574956 | CDH23 | c.3220+17C>T (n.3220+17C>T) c.2651+17C>T c.3235+17C>T (n.3235+17C>T) c.1995+17C>T c.3415+17C>T (n.3415+17C>T) c.3349+17C>T (n.3349+17C>T) c.3409+17C>T (n.3409+17C>T) c.3355+17C>T (n.3355+17C>T) c.3280+17C>T (n.3280+17C>T) c.2875+17C>T (n.2875+17C>T) c.2233+17C>T (n.2233+17C>T) n.3658+17C>T | ClinVar gnomAD v4 |
10 | g.71709229A>C | CA2739275792 | CDH23 | c.3220+18A>C (n.3220+18A>C) c.2651+18A>C c.3235+18A>C (n.3235+18A>C) c.1995+18A>C c.3415+18A>C (n.3415+18A>C) c.3349+18A>C (n.3349+18A>C) c.3409+18A>C (n.3409+18A>C) c.3355+18A>C (n.3355+18A>C) c.3280+18A>C (n.3280+18A>C) c.2875+18A>C (n.2875+18A>C) c.2233+18A>C (n.2233+18A>C) n.3658+18A>C | ClinVar |
10 | g.71709230C>A | CA2609570157 | CDH23 | c.3220+19C>A (n.3220+19C>A) c.2651+19C>A c.3235+19C>A (n.3235+19C>A) c.1995+19C>A c.3415+19C>A (n.3415+19C>A) c.3349+19C>A (n.3349+19C>A) c.3409+19C>A (n.3409+19C>A) c.3355+19C>A (n.3355+19C>A) c.3280+19C>A (n.3280+19C>A) c.2875+19C>A (n.2875+19C>A) c.2233+19C>A (n.2233+19C>A) n.3658+19C>A | gnomAD v4 |
10 | g.71709232del | CA2609570154 | CDH23 | c.3220+21del (n.3220+21del) c.2651+21del c.3235+21del (n.3235+21del) c.1995+21del c.3415+21del (n.3415+21del) c.3349+21del (n.3349+21del) c.3409+21del (n.3409+21del) c.3355+21del (n.3355+21del) c.3280+21del (n.3280+21del) c.2875+21del (n.2875+21del) c.2233+21del (n.2233+21del) n.3658+21del | gnomAD v4 |
10 | g.71709231C>A | CA2574574958 | CDH23 | c.3220+20C>A (n.3220+20C>A) c.2651+20C>A c.3235+20C>A (n.3235+20C>A) c.1995+20C>A c.3415+20C>A (n.3415+20C>A) c.3349+20C>A (n.3349+20C>A) c.3409+20C>A (n.3409+20C>A) c.3355+20C>A (n.3355+20C>A) c.3280+20C>A (n.3280+20C>A) c.2875+20C>A (n.2875+20C>A) c.2233+20C>A (n.2233+20C>A) n.3658+20C>A | gnomAD v4 |
10 | g.71709231C>G | CA2739275793 | CDH23 | c.3220+20C>G (n.3220+20C>G) c.2651+20C>G c.3235+20C>G (n.3235+20C>G) c.1995+20C>G c.3415+20C>G (n.3415+20C>G) c.3349+20C>G (n.3349+20C>G) c.3409+20C>G (n.3409+20C>G) c.3355+20C>G (n.3355+20C>G) c.3280+20C>G (n.3280+20C>G) c.2875+20C>G (n.2875+20C>G) c.2233+20C>G (n.2233+20C>G) n.3658+20C>G | ClinVar |
10 | g.71709234_71709236del | CA2609570159 | CDH23 | c.3220+23_3220+25del (n.3220+23_3220+25del) c.2651+23_2651+25del c.3235+23_3235+25del (n.3235+23_3235+25del) c.1995+23_1995+25del c.3415+23_3415+25del (n.3415+23_3415+25del) c.3349+23_3349+25del (n.3349+23_3349+25del) c.3409+23_3409+25del (n.3409+23_3409+25del) c.3355+23_3355+25del (n.3355+23_3355+25del) c.3280+23_3280+25del (n.3280+23_3280+25del) c.2875+23_2875+25del (n.2875+23_2875+25del) c.2233+23_2233+25del (n.2233+23_2233+25del) n.3658+23_3658+25del | gnomAD v4 |
10 | g.71709232C>A | CA2788479388 | CDH23 | c.3220+21C>A (n.3220+21C>A) c.2651+21C>A c.3235+21C>A (n.3235+21C>A) c.1995+21C>A c.3415+21C>A (n.3415+21C>A) c.3349+21C>A (n.3349+21C>A) c.3409+21C>A (n.3409+21C>A) c.3355+21C>A (n.3355+21C>A) c.3280+21C>A (n.3280+21C>A) c.2875+21C>A (n.2875+21C>A) c.2233+21C>A (n.2233+21C>A) n.3658+21C>A | |
10 | g.71709233A= | CA1918841055 | CDH23 | c.3220+22A= (n.3220+22A=) c.2651+22A= c.3235+22A= (n.3235+22A=) c.1995+22A= c.3415+22A= (n.3415+22A=) c.3349+22A= (n.3349+22A=) c.3409+22A= (n.3409+22A=) c.3355+22A= (n.3355+22A=) c.3280+22A= (n.3280+22A=) c.2875+22A= (n.2875+22A=) c.2233+22A= (n.2233+22A=) n.3658+22A= | |
10 | g.71709233A>G | CA2574574959 | CDH23 | c.3220+22A>G (n.3220+22A>G) c.2651+22A>G c.3235+22A>G (n.3235+22A>G) c.1995+22A>G c.3415+22A>G (n.3415+22A>G) c.3349+22A>G (n.3349+22A>G) c.3409+22A>G (n.3409+22A>G) c.3355+22A>G (n.3355+22A>G) c.3280+22A>G (n.3280+22A>G) c.2875+22A>G (n.2875+22A>G) c.2233+22A>G (n.2233+22A>G) n.3658+22A>G | |
10 | g.71709233A>T | CA1918841057 | CDH23 | c.3220+22A>T (n.3220+22A>T) c.2651+22A>T c.3235+22A>T (n.3235+22A>T) c.1995+22A>T c.3415+22A>T (n.3415+22A>T) c.3349+22A>T (n.3349+22A>T) c.3409+22A>T (n.3409+22A>T) c.3355+22A>T (n.3355+22A>T) c.3280+22A>T (n.3280+22A>T) c.2875+22A>T (n.2875+22A>T) c.2233+22A>T (n.2233+22A>T) n.3658+22A>T | dbSNP |
10 | g.71709234C>A | CA2574574960 | CDH23 | c.3220+23C>A (n.3220+23C>A) c.2651+23C>A c.3235+23C>A (n.3235+23C>A) c.1995+23C>A c.3415+23C>A (n.3415+23C>A) c.3349+23C>A (n.3349+23C>A) c.3409+23C>A (n.3409+23C>A) c.3355+23C>A (n.3355+23C>A) c.3280+23C>A (n.3280+23C>A) c.2875+23C>A (n.2875+23C>A) c.2233+23C>A (n.2233+23C>A) n.3658+23C>A | gnomAD v4 |
10 | g.71709234C= | CA1918841060 | CDH23 | c.3220+23C= (n.3220+23C=) c.2651+23C= c.3235+23C= (n.3235+23C=) c.1995+23C= c.3415+23C= (n.3415+23C=) c.3349+23C= (n.3349+23C=) c.3409+23C= (n.3409+23C=) c.3355+23C= (n.3355+23C=) c.3280+23C= (n.3280+23C=) c.2875+23C= (n.2875+23C=) c.2233+23C= (n.2233+23C=) n.3658+23C= | |
10 | g.71709234C>T | CA668080029 | CDH23 | c.3220+23C>T (n.3220+23C>T) c.2651+23C>T c.3235+23C>T (n.3235+23C>T) c.1995+23C>T c.3415+23C>T (n.3415+23C>T) c.3349+23C>T (n.3349+23C>T) c.3409+23C>T (n.3409+23C>T) c.3355+23C>T (n.3355+23C>T) c.3280+23C>T (n.3280+23C>T) c.2875+23C>T (n.2875+23C>T) c.2233+23C>T (n.2233+23C>T) n.3658+23C>T | dbSNP gnomAD v4 |
10 | g.71709237A= | CA1918841063 | CDH23 | c.3220+26A= (n.3220+26A=) c.2651+26A= c.3235+26A= (n.3235+26A=) c.1995+26A= c.3415+26A= (n.3415+26A=) c.3349+26A= (n.3349+26A=) c.3409+26A= (n.3409+26A=) c.3355+26A= (n.3355+26A=) c.3280+26A= (n.3280+26A=) c.2875+26A= (n.2875+26A=) c.2233+26A= (n.2233+26A=) n.3658+26A= | |
10 | g.71709237A>T | CA5544518 | CDH23 | c.3220+26A>T (n.3220+26A>T) c.2651+26A>T c.3235+26A>T (n.3235+26A>T) c.1995+26A>T c.3415+26A>T (n.3415+26A>T) c.3349+26A>T (n.3349+26A>T) c.3409+26A>T (n.3409+26A>T) c.3355+26A>T (n.3355+26A>T) c.3280+26A>T (n.3280+26A>T) c.2875+26A>T (n.2875+26A>T) c.2233+26A>T (n.2233+26A>T) n.3658+26A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71709238C>A | CA5544519 | CDH23 | c.3220+27C>A (n.3220+27C>A) c.2651+27C>A c.3235+27C>A (n.3235+27C>A) c.1995+27C>A c.3415+27C>A (n.3415+27C>A) c.3349+27C>A (n.3349+27C>A) c.3409+27C>A (n.3409+27C>A) c.3355+27C>A (n.3355+27C>A) c.3280+27C>A (n.3280+27C>A) c.2875+27C>A (n.2875+27C>A) c.2233+27C>A (n.2233+27C>A) n.3658+27C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71709238C= | CA1918841067 | CDH23 | c.3220+27C= (n.3220+27C=) c.2651+27C= c.3235+27C= (n.3235+27C=) c.1995+27C= c.3415+27C= (n.3415+27C=) c.3349+27C= (n.3349+27C=) c.3409+27C= (n.3409+27C=) c.3355+27C= (n.3355+27C=) c.3280+27C= (n.3280+27C=) c.2875+27C= (n.2875+27C=) c.2233+27C= (n.2233+27C=) n.3658+27C= | |
10 | g.71709239A= | CA1918841072 | CDH23 | c.3220+28A= (n.3220+28A=) c.2651+28A= c.3235+28A= (n.3235+28A=) c.1995+28A= c.3415+28A= (n.3415+28A=) c.3349+28A= (n.3349+28A=) c.3409+28A= (n.3409+28A=) c.3355+28A= (n.3355+28A=) c.3280+28A= (n.3280+28A=) c.2875+28A= (n.2875+28A=) c.2233+28A= (n.2233+28A=) n.3658+28A= | |
10 | g.71709239A>C | CA1918841074 | CDH23 | c.3220+28A>C (n.3220+28A>C) c.2651+28A>C c.3235+28A>C (n.3235+28A>C) c.1995+28A>C c.3415+28A>C (n.3415+28A>C) c.3349+28A>C (n.3349+28A>C) c.3409+28A>C (n.3409+28A>C) c.3355+28A>C (n.3355+28A>C) c.3280+28A>C (n.3280+28A>C) c.2875+28A>C (n.2875+28A>C) c.2233+28A>C (n.2233+28A>C) n.3658+28A>C | dbSNP gnomAD v4 |
10 | g.71709239A>G | CA1918841071 | CDH23 | c.3220+28A>G (n.3220+28A>G) c.2651+28A>G c.3235+28A>G (n.3235+28A>G) c.1995+28A>G c.3415+28A>G (n.3415+28A>G) c.3349+28A>G (n.3349+28A>G) c.3409+28A>G (n.3409+28A>G) c.3355+28A>G (n.3355+28A>G) c.3280+28A>G (n.3280+28A>G) c.2875+28A>G (n.2875+28A>G) c.2233+28A>G (n.2233+28A>G) n.3658+28A>G | dbSNP gnomAD v4 |
10 | g.71709240C>A | CA2609570184 | CDH23 | c.3220+29C>A (n.3220+29C>A) c.2651+29C>A c.3235+29C>A (n.3235+29C>A) c.1995+29C>A c.3415+29C>A (n.3415+29C>A) c.3349+29C>A (n.3349+29C>A) c.3409+29C>A (n.3409+29C>A) c.3355+29C>A (n.3355+29C>A) c.3280+29C>A (n.3280+29C>A) c.2875+29C>A (n.2875+29C>A) c.2233+29C>A (n.2233+29C>A) n.3658+29C>A | gnomAD v4 |
10 | g.71709240C= | CA1918841076 | CDH23 | c.3220+29C= (n.3220+29C=) c.2651+29C= c.3235+29C= (n.3235+29C=) c.1995+29C= c.3415+29C= (n.3415+29C=) c.3349+29C= (n.3349+29C=) c.3409+29C= (n.3409+29C=) c.3355+29C= (n.3355+29C=) c.3280+29C= (n.3280+29C=) c.2875+29C= (n.2875+29C=) c.2233+29C= (n.2233+29C=) n.3658+29C= | |
10 | g.71709240C>G | CA5544520 | CDH23 | c.3220+29C>G (n.3220+29C>G) c.2651+29C>G c.3235+29C>G (n.3235+29C>G) c.1995+29C>G c.3415+29C>G (n.3415+29C>G) c.3349+29C>G (n.3349+29C>G) c.3409+29C>G (n.3409+29C>G) c.3355+29C>G (n.3355+29C>G) c.3280+29C>G (n.3280+29C>G) c.2875+29C>G (n.2875+29C>G) c.2233+29C>G (n.2233+29C>G) n.3658+29C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709241A= | CA1918841077 | CDH23 | c.3220+30A= (n.3220+30A=) c.2651+30A= c.3235+30A= (n.3235+30A=) c.1995+30A= c.3415+30A= (n.3415+30A=) c.3349+30A= (n.3349+30A=) c.3409+30A= (n.3409+30A=) c.3355+30A= (n.3355+30A=) c.3280+30A= (n.3280+30A=) c.2875+30A= (n.2875+30A=) c.2233+30A= (n.2233+30A=) n.3658+30A= | |
10 | g.71709241A>G | CA594320704 | CDH23 | c.3220+30A>G (n.3220+30A>G) c.2651+30A>G c.3235+30A>G (n.3235+30A>G) c.1995+30A>G c.3415+30A>G (n.3415+30A>G) c.3349+30A>G (n.3349+30A>G) c.3409+30A>G (n.3409+30A>G) c.3355+30A>G (n.3355+30A>G) c.3280+30A>G (n.3280+30A>G) c.2875+30A>G (n.2875+30A>G) c.2233+30A>G (n.2233+30A>G) n.3658+30A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709242G>C | CA2609570192 | CDH23 | c.3220+31G>C (n.3220+31G>C) c.2651+31G>C c.3235+31G>C (n.3235+31G>C) c.1995+31G>C c.3415+31G>C (n.3415+31G>C) c.3349+31G>C (n.3349+31G>C) c.3409+31G>C (n.3409+31G>C) c.3355+31G>C (n.3355+31G>C) c.3280+31G>C (n.3280+31G>C) c.2875+31G>C (n.2875+31G>C) c.2233+31G>C (n.2233+31G>C) n.3658+31G>C | gnomAD v4 |
10 | g.71709243T>A | CA2609570196 | CDH23 | c.3220+32T>A (n.3220+32T>A) c.2651+32T>A c.3235+32T>A (n.3235+32T>A) c.1995+32T>A c.3415+32T>A (n.3415+32T>A) c.3349+32T>A (n.3349+32T>A) c.3409+32T>A (n.3409+32T>A) c.3355+32T>A (n.3355+32T>A) c.3280+32T>A (n.3280+32T>A) c.2875+32T>A (n.2875+32T>A) c.2233+32T>A (n.2233+32T>A) n.3658+32T>A | gnomAD v4 |
10 | g.71709243T>C | CA5544521 | CDH23 | c.3220+32T>C (n.3220+32T>C) c.2651+32T>C c.3235+32T>C (n.3235+32T>C) c.1995+32T>C c.3415+32T>C (n.3415+32T>C) c.3349+32T>C (n.3349+32T>C) c.3409+32T>C (n.3409+32T>C) c.3355+32T>C (n.3355+32T>C) c.3280+32T>C (n.3280+32T>C) c.2875+32T>C (n.2875+32T>C) c.2233+32T>C (n.2233+32T>C) n.3658+32T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71709243T= | CA1918841081 | CDH23 | c.3220+32T= (n.3220+32T=) c.2651+32T= c.3235+32T= (n.3235+32T=) c.1995+32T= c.3415+32T= (n.3415+32T=) c.3349+32T= (n.3349+32T=) c.3409+32T= (n.3409+32T=) c.3355+32T= (n.3355+32T=) c.3280+32T= (n.3280+32T=) c.2875+32T= (n.2875+32T=) c.2233+32T= (n.2233+32T=) n.3658+32T= | |
10 | g.71709244G>A | CA2574574962 | CDH23 | c.3220+33G>A (n.3220+33G>A) c.2651+33G>A c.3235+33G>A (n.3235+33G>A) c.1995+33G>A c.3415+33G>A (n.3415+33G>A) c.3349+33G>A (n.3349+33G>A) c.3409+33G>A (n.3409+33G>A) c.3355+33G>A (n.3355+33G>A) c.3280+33G>A (n.3280+33G>A) c.2875+33G>A (n.2875+33G>A) c.2233+33G>A (n.2233+33G>A) n.3658+33G>A | gnomAD v4 |
10 | g.71709246_71709255del | CA2574574961 | CDH23 | c.3220+35_3220+44del (n.3220+35_3220+44del) c.2651+35_2651+44del c.3235+35_3235+44del (n.3235+35_3235+44del) c.1995+35_1995+44del c.3415+35_3415+44del (n.3415+35_3415+44del) c.3349+35_3349+44del (n.3349+35_3349+44del) c.3409+35_3409+44del (n.3409+35_3409+44del) c.3355+35_3355+44del (n.3355+35_3355+44del) c.3280+35_3280+44del (n.3280+35_3280+44del) c.2875+35_2875+44del (n.2875+35_2875+44del) c.2233+35_2233+44del (n.2233+35_2233+44del) n.3658+35_3658+44del | |
10 | g.71709245A= | CA1918841082 | CDH23 | c.3220+34A= (n.3220+34A=) c.2651+34A= c.3235+34A= (n.3235+34A=) c.1995+34A= c.3415+34A= (n.3415+34A=) c.3349+34A= (n.3349+34A=) c.3409+34A= (n.3409+34A=) c.3355+34A= (n.3355+34A=) c.3280+34A= (n.3280+34A=) c.2875+34A= (n.2875+34A=) c.2233+34A= (n.2233+34A=) n.3658+34A= | |
10 | g.71709245A>G | CA2574574963 | CDH23 | c.3220+34A>G (n.3220+34A>G) c.2651+34A>G c.3235+34A>G (n.3235+34A>G) c.1995+34A>G c.3415+34A>G (n.3415+34A>G) c.3349+34A>G (n.3349+34A>G) c.3409+34A>G (n.3409+34A>G) c.3355+34A>G (n.3355+34A>G) c.3280+34A>G (n.3280+34A>G) c.2875+34A>G (n.2875+34A>G) c.2233+34A>G (n.2233+34A>G) n.3658+34A>G | gnomAD v4 |
10 | g.71709245A>T | CA594320706 | CDH23 | c.3220+34A>T (n.3220+34A>T) c.2651+34A>T c.3235+34A>T (n.3235+34A>T) c.1995+34A>T c.3415+34A>T (n.3415+34A>T) c.3349+34A>T (n.3349+34A>T) c.3409+34A>T (n.3409+34A>T) c.3355+34A>T (n.3355+34A>T) c.3280+34A>T (n.3280+34A>T) c.2875+34A>T (n.2875+34A>T) c.2233+34A>T (n.2233+34A>T) n.3658+34A>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709252_71709575del | CA2788479390 | CDH23 | c.3220+41_3220+364del (n.3220+41_3220+364del) c.2651+41_2651+364del c.3235+41_3235+364del (n.3235+41_3235+364del) c.1995+41_1995+364del c.3415+41_3415+364del (n.3415+41_3415+364del) c.3349+41_3349+364del (n.3349+41_3349+364del) c.3409+41_3409+364del (n.3409+41_3409+364del) c.3355+41_3355+364del (n.3355+41_3355+364del) c.3280+41_3280+364del (n.3280+41_3280+364del) c.2875+41_2875+364del (n.2875+41_2875+364del) c.2233+41_2233+364del (n.2233+41_2233+364del) n.3658+41_3658+364del | |
10 | g.71709246T>C | CA2609570203 | CDH23 | c.3220+35T>C (n.3220+35T>C) c.2651+35T>C c.3235+35T>C (n.3235+35T>C) c.1995+35T>C c.3415+35T>C (n.3415+35T>C) c.3349+35T>C (n.3349+35T>C) c.3409+35T>C (n.3409+35T>C) c.3355+35T>C (n.3355+35T>C) c.3280+35T>C (n.3280+35T>C) c.2875+35T>C (n.2875+35T>C) c.2233+35T>C (n.2233+35T>C) n.3658+35T>C | gnomAD v4 |
10 | g.71709247C= | CA1918841087 | CDH23 | c.3220+36C= (n.3220+36C=) c.2651+36C= c.3235+36C= (n.3235+36C=) c.1995+36C= c.3415+36C= (n.3415+36C=) c.3349+36C= (n.3349+36C=) c.3409+36C= (n.3409+36C=) c.3355+36C= (n.3355+36C=) c.3280+36C= (n.3280+36C=) c.2875+36C= (n.2875+36C=) c.2233+36C= (n.2233+36C=) n.3658+36C= | |
10 | g.71709247C>G | CA1918841086 | CDH23 | c.3220+36C>G (n.3220+36C>G) c.2651+36C>G c.3235+36C>G (n.3235+36C>G) c.1995+36C>G c.3415+36C>G (n.3415+36C>G) c.3349+36C>G (n.3349+36C>G) c.3409+36C>G (n.3409+36C>G) c.3355+36C>G (n.3355+36C>G) c.3280+36C>G (n.3280+36C>G) c.2875+36C>G (n.2875+36C>G) c.2233+36C>G (n.2233+36C>G) n.3658+36C>G | dbSNP gnomAD v4 |
10 | g.71709248T>G | CA2609570208 | CDH23 | c.3220+37T>G (n.3220+37T>G) c.2651+37T>G c.3235+37T>G (n.3235+37T>G) c.1995+37T>G c.3415+37T>G (n.3415+37T>G) c.3349+37T>G (n.3349+37T>G) c.3409+37T>G (n.3409+37T>G) c.3355+37T>G (n.3355+37T>G) c.3280+37T>G (n.3280+37T>G) c.2875+37T>G (n.2875+37T>G) c.2233+37T>G (n.2233+37T>G) n.3658+37T>G | gnomAD v4 |
10 | g.71709249G>A | CA594320707 | CDH23 | c.3220+38G>A (n.3220+38G>A) c.2651+38G>A c.3235+38G>A (n.3235+38G>A) c.1995+38G>A c.3415+38G>A (n.3415+38G>A) c.3349+38G>A (n.3349+38G>A) c.3409+38G>A (n.3409+38G>A) c.3355+38G>A (n.3355+38G>A) c.3280+38G>A (n.3280+38G>A) c.2875+38G>A (n.2875+38G>A) c.2233+38G>A (n.2233+38G>A) n.3658+38G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709249G= | CA1918841088 | CDH23 | c.3220+38G= (n.3220+38G=) c.2651+38G= c.3235+38G= (n.3235+38G=) c.1995+38G= c.3415+38G= (n.3415+38G=) c.3349+38G= (n.3349+38G=) c.3409+38G= (n.3409+38G=) c.3355+38G= (n.3355+38G=) c.3280+38G= (n.3280+38G=) c.2875+38G= (n.2875+38G=) c.2233+38G= (n.2233+38G=) n.3658+38G= | |
10 | g.71709250G>A | CA2609570211 | CDH23 | c.3220+39G>A (n.3220+39G>A) c.2651+39G>A c.3235+39G>A (n.3235+39G>A) c.1995+39G>A c.3415+39G>A (n.3415+39G>A) c.3349+39G>A (n.3349+39G>A) c.3409+39G>A (n.3409+39G>A) c.3355+39G>A (n.3355+39G>A) c.3280+39G>A (n.3280+39G>A) c.2875+39G>A (n.2875+39G>A) c.2233+39G>A (n.2233+39G>A) n.3658+39G>A | gnomAD v4 |
10 | g.71709251G>A | CA594320710 | CDH23 | c.3220+40G>A (n.3220+40G>A) c.2651+40G>A c.3235+40G>A (n.3235+40G>A) c.1995+40G>A c.3415+40G>A (n.3415+40G>A) c.3349+40G>A (n.3349+40G>A) c.3409+40G>A (n.3409+40G>A) c.3355+40G>A (n.3355+40G>A) c.3280+40G>A (n.3280+40G>A) c.2875+40G>A (n.2875+40G>A) c.2233+40G>A (n.2233+40G>A) n.3658+40G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709251G>C | CA2609570214 | CDH23 | c.3220+40G>C (n.3220+40G>C) c.2651+40G>C c.3235+40G>C (n.3235+40G>C) c.1995+40G>C c.3415+40G>C (n.3415+40G>C) c.3349+40G>C (n.3349+40G>C) c.3409+40G>C (n.3409+40G>C) c.3355+40G>C (n.3355+40G>C) c.3280+40G>C (n.3280+40G>C) c.2875+40G>C (n.2875+40G>C) c.2233+40G>C (n.2233+40G>C) n.3658+40G>C | gnomAD v4 |
10 | g.71709251G= | CA1918841091 | CDH23 | c.3220+40G= (n.3220+40G=) c.2651+40G= c.3235+40G= (n.3235+40G=) c.1995+40G= c.3415+40G= (n.3415+40G=) c.3349+40G= (n.3349+40G=) c.3409+40G= (n.3409+40G=) c.3355+40G= (n.3355+40G=) c.3280+40G= (n.3280+40G=) c.2875+40G= (n.2875+40G=) c.2233+40G= (n.2233+40G=) n.3658+40G= | |
10 | g.71709251G>T | CA5544522 | CDH23 | c.3220+40G>T (n.3220+40G>T) c.2651+40G>T c.3235+40G>T (n.3235+40G>T) c.1995+40G>T c.3415+40G>T (n.3415+40G>T) c.3349+40G>T (n.3349+40G>T) c.3409+40G>T (n.3409+40G>T) c.3355+40G>T (n.3355+40G>T) c.3280+40G>T (n.3280+40G>T) c.2875+40G>T (n.2875+40G>T) c.2233+40G>T (n.2233+40G>T) n.3658+40G>T | dbSNP ExAC gnomAD v2 |
10 | g.71709252C>A | CA2574574964 | CDH23 | c.3220+41C>A (n.3220+41C>A) c.2651+41C>A c.3235+41C>A (n.3235+41C>A) c.1995+41C>A c.3415+41C>A (n.3415+41C>A) c.3349+41C>A (n.3349+41C>A) c.3409+41C>A (n.3409+41C>A) c.3355+41C>A (n.3355+41C>A) c.3280+41C>A (n.3280+41C>A) c.2875+41C>A (n.2875+41C>A) c.2233+41C>A (n.2233+41C>A) n.3658+41C>A | gnomAD v4 |
10 | g.71709253A= | CA1918841095 | CDH23 | c.3220+42A= (n.3220+42A=) c.2651+42A= c.3235+42A= (n.3235+42A=) c.1995+42A= c.3415+42A= (n.3415+42A=) c.3349+42A= (n.3349+42A=) c.3409+42A= (n.3409+42A=) c.3355+42A= (n.3355+42A=) c.3280+42A= (n.3280+42A=) c.2875+42A= (n.2875+42A=) c.2233+42A= (n.2233+42A=) n.3658+42A= | |
10 | g.71709253A>C | CA2574574965 | CDH23 | c.3220+42A>C (n.3220+42A>C) c.2651+42A>C c.3235+42A>C (n.3235+42A>C) c.1995+42A>C c.3415+42A>C (n.3415+42A>C) c.3349+42A>C (n.3349+42A>C) c.3409+42A>C (n.3409+42A>C) c.3355+42A>C (n.3355+42A>C) c.3280+42A>C (n.3280+42A>C) c.2875+42A>C (n.2875+42A>C) c.2233+42A>C (n.2233+42A>C) n.3658+42A>C | gnomAD v4 |
10 | g.71709253A>G | CA5544523 | CDH23 | c.3220+42A>G (n.3220+42A>G) c.2651+42A>G c.3235+42A>G (n.3235+42A>G) c.1995+42A>G c.3415+42A>G (n.3415+42A>G) c.3349+42A>G (n.3349+42A>G) c.3409+42A>G (n.3409+42A>G) c.3355+42A>G (n.3355+42A>G) c.3280+42A>G (n.3280+42A>G) c.2875+42A>G (n.2875+42A>G) c.2233+42A>G (n.2233+42A>G) n.3658+42A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71709255A= | CA1918841098 | CDH23 | c.3220+44A= (n.3220+44A=) c.2651+44A= c.3235+44A= (n.3235+44A=) c.1995+44A= c.3415+44A= (n.3415+44A=) c.3349+44A= (n.3349+44A=) c.3409+44A= (n.3409+44A=) c.3355+44A= (n.3355+44A=) c.3280+44A= (n.3280+44A=) c.2875+44A= (n.2875+44A=) c.2233+44A= (n.2233+44A=) n.3658+44A= | |
10 | g.71709255A>G | CA668080036 | CDH23 | c.3220+44A>G (n.3220+44A>G) c.2651+44A>G c.3235+44A>G (n.3235+44A>G) c.1995+44A>G c.3415+44A>G (n.3415+44A>G) c.3349+44A>G (n.3349+44A>G) c.3409+44A>G (n.3409+44A>G) c.3355+44A>G (n.3355+44A>G) c.3280+44A>G (n.3280+44A>G) c.2875+44A>G (n.2875+44A>G) c.2233+44A>G (n.2233+44A>G) n.3658+44A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71709256G>A | CA929779327 | CDH23 | c.3220+45G>A (n.3220+45G>A) c.2651+45G>A c.3235+45G>A (n.3235+45G>A) c.1995+45G>A c.3415+45G>A (n.3415+45G>A) c.3349+45G>A (n.3349+45G>A) c.3409+45G>A (n.3409+45G>A) c.3355+45G>A (n.3355+45G>A) c.3280+45G>A (n.3280+45G>A) c.2875+45G>A (n.2875+45G>A) c.2233+45G>A (n.2233+45G>A) n.3658+45G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71709256G= | CA1918841103 | CDH23 | c.3220+45G= (n.3220+45G=) c.2651+45G= c.3235+45G= (n.3235+45G=) c.1995+45G= c.3415+45G= (n.3415+45G=) c.3349+45G= (n.3349+45G=) c.3409+45G= (n.3409+45G=) c.3355+45G= (n.3355+45G=) c.3280+45G= (n.3280+45G=) c.2875+45G= (n.2875+45G=) c.2233+45G= (n.2233+45G=) n.3658+45G= | |
10 | g.71709256G>T | CA594320714 | CDH23 | c.3220+45G>T (n.3220+45G>T) c.2651+45G>T c.3235+45G>T (n.3235+45G>T) c.1995+45G>T c.3415+45G>T (n.3415+45G>T) c.3349+45G>T (n.3349+45G>T) c.3409+45G>T (n.3409+45G>T) c.3355+45G>T (n.3355+45G>T) c.3280+45G>T (n.3280+45G>T) c.2875+45G>T (n.2875+45G>T) c.2233+45G>T (n.2233+45G>T) n.3658+45G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709258T>C | CA594320716 | CDH23 | c.3220+47T>C (n.3220+47T>C) c.2651+47T>C c.3235+47T>C (n.3235+47T>C) c.1995+47T>C c.3415+47T>C (n.3415+47T>C) c.3349+47T>C (n.3349+47T>C) c.3409+47T>C (n.3409+47T>C) c.3355+47T>C (n.3355+47T>C) c.3280+47T>C (n.3280+47T>C) c.2875+47T>C (n.2875+47T>C) c.2233+47T>C (n.2233+47T>C) n.3658+47T>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71709258T= | CA1918841104 | CDH23 | c.3220+47T= (n.3220+47T=) c.2651+47T= c.3235+47T= (n.3235+47T=) c.1995+47T= c.3415+47T= (n.3415+47T=) c.3349+47T= (n.3349+47T=) c.3409+47T= (n.3409+47T=) c.3355+47T= (n.3355+47T=) c.3280+47T= (n.3280+47T=) c.2875+47T= (n.2875+47T=) c.2233+47T= (n.2233+47T=) n.3658+47T= | |
10 | g.71709259C>A | CA1918841108 | CDH23 | c.3220+48C>A (n.3220+48C>A) c.2651+48C>A c.3235+48C>A (n.3235+48C>A) c.1995+48C>A c.3415+48C>A (n.3415+48C>A) c.3349+48C>A (n.3349+48C>A) c.3409+48C>A (n.3409+48C>A) c.3355+48C>A (n.3355+48C>A) c.3280+48C>A (n.3280+48C>A) c.2875+48C>A (n.2875+48C>A) c.2233+48C>A (n.2233+48C>A) n.3658+48C>A | dbSNP gnomAD v4 |
10 | g.71709259C= | CA1918841107 | CDH23 | c.3220+48C= (n.3220+48C=) c.2651+48C= c.3235+48C= (n.3235+48C=) c.1995+48C= c.3415+48C= (n.3415+48C=) c.3349+48C= (n.3349+48C=) c.3409+48C= (n.3409+48C=) c.3355+48C= (n.3355+48C=) c.3280+48C= (n.3280+48C=) c.2875+48C= (n.2875+48C=) c.2233+48C= (n.2233+48C=) n.3658+48C= | |
10 | g.71709261C>A | CA2609570228 | CDH23 | c.3220+50C>A (n.3220+50C>A) c.2651+50C>A c.3235+50C>A (n.3235+50C>A) c.1995+50C>A c.3415+50C>A (n.3415+50C>A) c.3349+50C>A (n.3349+50C>A) c.3409+50C>A (n.3409+50C>A) c.3355+50C>A (n.3355+50C>A) c.3280+50C>A (n.3280+50C>A) c.2875+50C>A (n.2875+50C>A) c.2233+50C>A (n.2233+50C>A) n.3658+50C>A | gnomAD v4 |
10 | g.71709261C= | CA1918841111 | CDH23 | c.3220+50C= (n.3220+50C=) c.2651+50C= c.3235+50C= (n.3235+50C=) c.1995+50C= c.3415+50C= (n.3415+50C=) c.3349+50C= (n.3349+50C=) c.3409+50C= (n.3409+50C=) c.3355+50C= (n.3355+50C=) c.3280+50C= (n.3280+50C=) c.2875+50C= (n.2875+50C=) c.2233+50C= (n.2233+50C=) n.3658+50C= | |
10 | g.71709261C>T | CA653386098 | CDH23 | c.3220+50C>T (n.3220+50C>T) c.2651+50C>T c.3235+50C>T (n.3235+50C>T) c.1995+50C>T c.3415+50C>T (n.3415+50C>T) c.3349+50C>T (n.3349+50C>T) c.3409+50C>T (n.3409+50C>T) c.3355+50C>T (n.3355+50C>T) c.3280+50C>T (n.3280+50C>T) c.2875+50C>T (n.2875+50C>T) c.2233+50C>T (n.2233+50C>T) n.3658+50C>T | dbSNP gnomAD v4 COSMIC |
10 | g.71709261_71709283del | CA2609570226 | CDH23 | c.3220+50_3220+72del (n.3220+50_3220+72del) c.2651+50_2651+72del c.3235+50_3235+72del (n.3235+50_3235+72del) c.1995+50_1995+72del c.3415+50_3415+72del (n.3415+50_3415+72del) c.3349+50_3349+72del (n.3349+50_3349+72del) c.3409+50_3409+72del (n.3409+50_3409+72del) c.3355+50_3355+72del (n.3355+50_3355+72del) c.3280+50_3280+72del (n.3280+50_3280+72del) c.2875+50_2875+72del (n.2875+50_2875+72del) c.2233+50_2233+72del (n.2233+50_2233+72del) n.3658+50_3658+72del | gnomAD v4 |
10 | g.71709262A>G | CA2609570236 | CDH23 | c.3220+51A>G (n.3220+51A>G) c.2651+51A>G c.3235+51A>G (n.3235+51A>G) c.1995+51A>G c.3415+51A>G (n.3415+51A>G) c.3349+51A>G (n.3349+51A>G) c.3409+51A>G (n.3409+51A>G) c.3355+51A>G (n.3355+51A>G) c.3280+51A>G (n.3280+51A>G) c.2875+51A>G (n.2875+51A>G) c.2233+51A>G (n.2233+51A>G) n.3658+51A>G | gnomAD v4 |
10 | g.71709263C>A | CA2609570288 | CDH23 | c.3220+52C>A (n.3220+52C>A) c.2651+52C>A c.3235+52C>A (n.3235+52C>A) c.1995+52C>A c.3415+52C>A (n.3415+52C>A) c.3349+52C>A (n.3349+52C>A) c.3409+52C>A (n.3409+52C>A) c.3355+52C>A (n.3355+52C>A) c.3280+52C>A (n.3280+52C>A) c.2875+52C>A (n.2875+52C>A) c.2233+52C>A (n.2233+52C>A) n.3658+52C>A | gnomAD v4 |
10 | g.71709263C= | CA1918841112 | CDH23 | c.3220+52C= (n.3220+52C=) c.2651+52C= c.3235+52C= (n.3235+52C=) c.1995+52C= c.3415+52C= (n.3415+52C=) c.3349+52C= (n.3349+52C=) c.3409+52C= (n.3409+52C=) c.3355+52C= (n.3355+52C=) c.3280+52C= (n.3280+52C=) c.2875+52C= (n.2875+52C=) c.2233+52C= (n.2233+52C=) n.3658+52C= | |
10 | g.71709263C>T | CA209462331 | CDH23 | c.3220+52C>T (n.3220+52C>T) c.2651+52C>T c.3235+52C>T (n.3235+52C>T) c.1995+52C>T c.3415+52C>T (n.3415+52C>T) c.3349+52C>T (n.3349+52C>T) c.3409+52C>T (n.3409+52C>T) c.3355+52C>T (n.3355+52C>T) c.3280+52C>T (n.3280+52C>T) c.2875+52C>T (n.2875+52C>T) c.2233+52C>T (n.2233+52C>T) n.3658+52C>T | dbSNP |
10 | g.71709264A>G | CA2574574966 | CDH23 | c.3220+53A>G (n.3220+53A>G) c.2651+53A>G c.3235+53A>G (n.3235+53A>G) c.1995+53A>G c.3415+53A>G (n.3415+53A>G) c.3349+53A>G (n.3349+53A>G) c.3409+53A>G (n.3409+53A>G) c.3355+53A>G (n.3355+53A>G) c.3280+53A>G (n.3280+53A>G) c.2875+53A>G (n.2875+53A>G) c.2233+53A>G (n.2233+53A>G) n.3658+53A>G | |
10 | g.71709265G>A | CA209462335 | CDH23 | c.3220+54G>A (n.3220+54G>A) c.2651+54G>A c.3235+54G>A (n.3235+54G>A) c.1995+54G>A c.3415+54G>A (n.3415+54G>A) c.3349+54G>A (n.3349+54G>A) c.3409+54G>A (n.3409+54G>A) c.3355+54G>A (n.3355+54G>A) c.3280+54G>A (n.3280+54G>A) c.2875+54G>A (n.2875+54G>A) c.2233+54G>A (n.2233+54G>A) n.3658+54G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71709265G= | CA1918841113 | CDH23 | c.3220+54G= (n.3220+54G=) c.2651+54G= c.3235+54G= (n.3235+54G=) c.1995+54G= c.3415+54G= (n.3415+54G=) c.3349+54G= (n.3349+54G=) c.3409+54G= (n.3409+54G=) c.3355+54G= (n.3355+54G=) c.3280+54G= (n.3280+54G=) c.2875+54G= (n.2875+54G=) c.2233+54G= (n.2233+54G=) n.3658+54G= | |
10 | g.71709265G>T | CA653386102 | CDH23 | c.3220+54G>T (n.3220+54G>T) c.2651+54G>T c.3235+54G>T (n.3235+54G>T) c.1995+54G>T c.3415+54G>T (n.3415+54G>T) c.3349+54G>T (n.3349+54G>T) c.3409+54G>T (n.3409+54G>T) c.3355+54G>T (n.3355+54G>T) c.3280+54G>T (n.3280+54G>T) c.2875+54G>T (n.2875+54G>T) c.2233+54G>T (n.2233+54G>T) n.3658+54G>T | gnomAD v4 COSMIC |
10 | g.71709266G>A | CA2609570299 | CDH23 | c.3220+55G>A (n.3220+55G>A) c.2651+55G>A c.3235+55G>A (n.3235+55G>A) c.1995+55G>A c.3415+55G>A (n.3415+55G>A) c.3349+55G>A (n.3349+55G>A) c.3409+55G>A (n.3409+55G>A) c.3355+55G>A (n.3355+55G>A) c.3280+55G>A (n.3280+55G>A) c.2875+55G>A (n.2875+55G>A) c.2233+55G>A (n.2233+55G>A) n.3658+55G>A | gnomAD v4 |
10 | g.71709266G>T | CA2609570297 | CDH23 | c.3220+55G>T (n.3220+55G>T) c.2651+55G>T c.3235+55G>T (n.3235+55G>T) c.1995+55G>T c.3415+55G>T (n.3415+55G>T) c.3349+55G>T (n.3349+55G>T) c.3409+55G>T (n.3409+55G>T) c.3355+55G>T (n.3355+55G>T) c.3280+55G>T (n.3280+55G>T) c.2875+55G>T (n.2875+55G>T) c.2233+55G>T (n.2233+55G>T) n.3658+55G>T | gnomAD v4 |
10 | g.71709267G>T | CA2574574967 | CDH23 | c.3220+56G>T (n.3220+56G>T) c.2651+56G>T c.3235+56G>T (n.3235+56G>T) c.1995+56G>T c.3415+56G>T (n.3415+56G>T) c.3349+56G>T (n.3349+56G>T) c.3409+56G>T (n.3409+56G>T) c.3355+56G>T (n.3355+56G>T) c.3280+56G>T (n.3280+56G>T) c.2875+56G>T (n.2875+56G>T) c.2233+56G>T (n.2233+56G>T) n.3658+56G>T | gnomAD v4 |
10 | g.71709269G>A | CA1918841117 | CDH23 | c.3220+58G>A (n.3220+58G>A) c.2651+58G>A c.3235+58G>A (n.3235+58G>A) c.1995+58G>A c.3415+58G>A (n.3415+58G>A) c.3349+58G>A (n.3349+58G>A) c.3409+58G>A (n.3409+58G>A) c.3355+58G>A (n.3355+58G>A) c.3280+58G>A (n.3280+58G>A) c.2875+58G>A (n.2875+58G>A) c.2233+58G>A (n.2233+58G>A) n.3658+58G>A | dbSNP gnomAD v4 |
10 | g.71709269G= | CA1918841116 | CDH23 | c.3220+58G= (n.3220+58G=) c.2651+58G= c.3235+58G= (n.3235+58G=) c.1995+58G= c.3415+58G= (n.3415+58G=) c.3349+58G= (n.3349+58G=) c.3409+58G= (n.3409+58G=) c.3355+58G= (n.3355+58G=) c.3280+58G= (n.3280+58G=) c.2875+58G= (n.2875+58G=) c.2233+58G= (n.2233+58G=) n.3658+58G= | |
10 | g.71709269G>T | CA2609570304 | CDH23 | c.3220+58G>T (n.3220+58G>T) c.2651+58G>T c.3235+58G>T (n.3235+58G>T) c.1995+58G>T c.3415+58G>T (n.3415+58G>T) c.3349+58G>T (n.3349+58G>T) c.3409+58G>T (n.3409+58G>T) c.3355+58G>T (n.3355+58G>T) c.3280+58G>T (n.3280+58G>T) c.2875+58G>T (n.2875+58G>T) c.2233+58G>T (n.2233+58G>T) n.3658+58G>T | gnomAD v4 |
10 | g.71709269_71709270insAG | CA2788479391 | CDH23 | c.3220+58_3220+59insAG (n.3220+58_3220+59insAG) c.2651+58_2651+59insAG c.3235+58_3235+59insAG (n.3235+58_3235+59insAG) c.1995+58_1995+59insAG c.3415+58_3415+59insAG (n.3415+58_3415+59insAG) c.3349+58_3349+59insAG (n.3349+58_3349+59insAG) c.3409+58_3409+59insAG (n.3409+58_3409+59insAG) c.3355+58_3355+59insAG (n.3355+58_3355+59insAG) c.3280+58_3280+59insAG (n.3280+58_3280+59insAG) c.2875+58_2875+59insAG (n.2875+58_2875+59insAG) c.2233+58_2233+59insAG (n.2233+58_2233+59insAG) n.3658+58_3658+59insAG | |
10 | g.71709270C>A | CA2574574968 | CDH23 | c.3220+59C>A (n.3220+59C>A) c.2651+59C>A c.3235+59C>A (n.3235+59C>A) c.1995+59C>A c.3415+59C>A (n.3415+59C>A) c.3349+59C>A (n.3349+59C>A) c.3409+59C>A (n.3409+59C>A) c.3355+59C>A (n.3355+59C>A) c.3280+59C>A (n.3280+59C>A) c.2875+59C>A (n.2875+59C>A) c.2233+59C>A (n.2233+59C>A) n.3658+59C>A | gnomAD v4 |
10 | g.71709270C>G | CA2609570309 | CDH23 | c.3220+59C>G (n.3220+59C>G) c.2651+59C>G c.3235+59C>G (n.3235+59C>G) c.1995+59C>G c.3415+59C>G (n.3415+59C>G) c.3349+59C>G (n.3349+59C>G) c.3409+59C>G (n.3409+59C>G) c.3355+59C>G (n.3355+59C>G) c.3280+59C>G (n.3280+59C>G) c.2875+59C>G (n.2875+59C>G) c.2233+59C>G (n.2233+59C>G) n.3658+59C>G | gnomAD v4 |
10 | g.71709270C>T | CA2574574969 | CDH23 | c.3220+59C>T (n.3220+59C>T) c.2651+59C>T c.3235+59C>T (n.3235+59C>T) c.1995+59C>T c.3415+59C>T (n.3415+59C>T) c.3349+59C>T (n.3349+59C>T) c.3409+59C>T (n.3409+59C>T) c.3355+59C>T (n.3355+59C>T) c.3280+59C>T (n.3280+59C>T) c.2875+59C>T (n.2875+59C>T) c.2233+59C>T (n.2233+59C>T) n.3658+59C>T | gnomAD v4 |
10 | g.71709271del | CA2609570307 | CDH23 | c.3220+60del (n.3220+60del) c.2651+60del c.3235+60del (n.3235+60del) c.1995+60del c.3415+60del (n.3415+60del) c.3349+60del (n.3349+60del) c.3409+60del (n.3409+60del) c.3355+60del (n.3355+60del) c.3280+60del (n.3280+60del) c.2875+60del (n.2875+60del) c.2233+60del (n.2233+60del) n.3658+60del | gnomAD v4 |