UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71709169C>A | CA209462174 | CDH23 | c.3178C>A (p.Arg1060=) c.2609C>A c.3193C>A (p.Arg1065=) c.1953C>A c.3373C>A (p.Arg1125=) c.3307C>A (p.Arg1103=) c.3367C>A (p.Arg1123=) c.3313C>A (p.Arg1105=) c.3238C>A (p.Arg1080=) c.2833C>A (p.Arg945=) c.2191C>A (p.Arg731=) n.3616C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71709169C= | CA1918840907 | CDH23 | c.3178C= (p.Arg1060=) c.2609C= c.3193C= (p.Arg1065=) c.1953C= c.3373C= (p.Arg1125=) c.3307C= (p.Arg1103=) c.3367C= (p.Arg1123=) c.3313C= (p.Arg1105=) c.3238C= (p.Arg1080=) c.2833C= (p.Arg945=) c.2191C= (p.Arg731=) n.3616C= | |
| 10 | g.71709169C>G | CA377143320 | CDH23 | c.3178C>G (p.Arg1060Gly) c.2609C>G c.3193C>G (p.Arg1065Gly) c.1953C>G c.3373C>G (p.Arg1125Gly) c.3307C>G (p.Arg1103Gly) c.3367C>G (p.Arg1123Gly) c.3313C>G (p.Arg1105Gly) c.3238C>G (p.Arg1080Gly) c.2833C>G (p.Arg945Gly) c.2191C>G (p.Arg731Gly) n.3616C>G | gnomAD v4 |
| 10 | g.71709169C>T | CA5544502 | CDH23 | c.3178C>T (p.Arg1060Trp) c.2609C>T c.3193C>T (p.Arg1065Trp) c.1953C>T c.3373C>T (p.Arg1125Trp) c.3307C>T (p.Arg1103Trp) c.3367C>T (p.Arg1123Trp) c.3313C>T (p.Arg1105Trp) c.3238C>T (p.Arg1080Trp) c.2833C>T (p.Arg945Trp) c.2191C>T (p.Arg731Trp) n.3616C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |