| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71799529T>A | CA377159268 | CDH23 | c.7262T>A (p.Ile2421Asn) c.1195T>A (n.1195T>A) c.859T>A (n.859T>A) c.7277T>A (p.Ile2426Asn) c.542T>A (p.Ile181Asn) n.798T>A c.7457T>A (p.Ile2486Asn) c.7391T>A (p.Ile2464Asn) c.7454T>A (p.Ile2485Asn) c.7451T>A (p.Ile2484Asn) c.7397T>A (p.Ile2466Asn) c.7367T>A (p.Ile2456Asn) c.7322T>A (p.Ile2441Asn) c.6917T>A (p.Ile2306Asn) c.6275T>A (p.Ile2092Asn) c.3785T>A (p.Ile1262Asn) | |
| 10 | g.71799529T>C | CA377159271 | CDH23 | c.7262T>C (p.Ile2421Thr) c.1195T>C (n.1195T>C) c.859T>C (n.859T>C) c.7277T>C (p.Ile2426Thr) c.542T>C (p.Ile181Thr) n.798T>C c.7457T>C (p.Ile2486Thr) c.7391T>C (p.Ile2464Thr) c.7454T>C (p.Ile2485Thr) c.7451T>C (p.Ile2484Thr) c.7397T>C (p.Ile2466Thr) c.7367T>C (p.Ile2456Thr) c.7322T>C (p.Ile2441Thr) c.6917T>C (p.Ile2306Thr) c.6275T>C (p.Ile2092Thr) c.3785T>C (p.Ile1262Thr) | |
| 10 | g.71799529T>G | CA377159273 | CDH23 | c.7262T>G (p.Ile2421Ser) c.1195T>G (n.1195T>G) c.859T>G (n.859T>G) c.7277T>G (p.Ile2426Ser) c.542T>G (p.Ile181Ser) n.798T>G c.7457T>G (p.Ile2486Ser) c.7391T>G (p.Ile2464Ser) c.7454T>G (p.Ile2485Ser) c.7451T>G (p.Ile2484Ser) c.7397T>G (p.Ile2466Ser) c.7367T>G (p.Ile2456Ser) c.7322T>G (p.Ile2441Ser) c.6917T>G (p.Ile2306Ser) c.6275T>G (p.Ile2092Ser) c.3785T>G (p.Ile1262Ser) | |
| 10 | g.71799530C>A | CA470282066 | CDH23 | c.7263C>A (p.Ile2421=) c.1196C>A (n.1196C>A) c.860C>A (n.860C>A) c.7278C>A (p.Ile2426=) c.543C>A (p.Ile181=) n.799C>A c.7458C>A (p.Ile2486=) c.7392C>A (p.Ile2464=) c.7455C>A (p.Ile2485=) c.7452C>A (p.Ile2484=) c.7398C>A (p.Ile2466=) c.7368C>A (p.Ile2456=) c.7323C>A (p.Ile2441=) c.6918C>A (p.Ile2306=) c.6276C>A (p.Ile2092=) c.3786C>A (p.Ile1262=) | ClinVar dbSNP |
| 10 | g.71799530C= | CA1918878918 | CDH23 | c.7263C= (p.Ile2421=) c.1196C= (n.1196C=) c.860C= (n.860C=) c.7278C= (p.Ile2426=) c.543C= (p.Ile181=) n.799C= c.7458C= (p.Ile2486=) c.7392C= (p.Ile2464=) c.7455C= (p.Ile2485=) c.7452C= (p.Ile2484=) c.7398C= (p.Ile2466=) c.7368C= (p.Ile2456=) c.7323C= (p.Ile2441=) c.6918C= (p.Ile2306=) c.6276C= (p.Ile2092=) c.3786C= (p.Ile1262=) | |
| 10 | g.71799530C>G | CA377159279 | CDH23 | c.7263C>G (p.Ile2421Met) c.1196C>G (n.1196C>G) c.860C>G (n.860C>G) c.7278C>G (p.Ile2426Met) c.543C>G (p.Ile181Met) n.799C>G c.7458C>G (p.Ile2486Met) c.7392C>G (p.Ile2464Met) c.7455C>G (p.Ile2485Met) c.7452C>G (p.Ile2484Met) c.7398C>G (p.Ile2466Met) c.7368C>G (p.Ile2456Met) c.7323C>G (p.Ile2441Met) c.6918C>G (p.Ile2306Met) c.6276C>G (p.Ile2092Met) c.3786C>G (p.Ile1262Met) | |
| 10 | g.71799530C>T | CA470282067 | CDH23 | c.7263C>T (p.Ile2421=) c.1196C>T (n.1196C>T) c.860C>T (n.860C>T) c.7278C>T (p.Ile2426=) c.543C>T (p.Ile181=) n.799C>T c.7458C>T (p.Ile2486=) c.7392C>T (p.Ile2464=) c.7455C>T (p.Ile2485=) c.7452C>T (p.Ile2484=) c.7398C>T (p.Ile2466=) c.7368C>T (p.Ile2456=) c.7323C>T (p.Ile2441=) c.6918C>T (p.Ile2306=) c.6276C>T (p.Ile2092=) c.3786C>T (p.Ile1262=) | gnomAD v4 COSMIC |
| 10 | g.71799531C>A | CA377159280 | CDH23 | c.7264C>A (p.Leu2422Met) c.1197C>A (n.1197C>A) c.861C>A (n.861C>A) c.7279C>A (p.Leu2427Met) c.544C>A (p.Leu182Met) n.800C>A c.7459C>A (p.Leu2487Met) c.7393C>A (p.Leu2465Met) c.7456C>A (p.Leu2486Met) c.7453C>A (p.Leu2485Met) c.7399C>A (p.Leu2467Met) c.7369C>A (p.Leu2457Met) c.7324C>A (p.Leu2442Met) c.6919C>A (p.Leu2307Met) c.6277C>A (p.Leu2093Met) c.3787C>A (p.Leu1263Met) | |
| 10 | g.71799531C>G | CA377159281 | CDH23 | c.7264C>G (p.Leu2422Val) c.1197C>G (n.1197C>G) c.861C>G (n.861C>G) c.7279C>G (p.Leu2427Val) c.544C>G (p.Leu182Val) n.800C>G c.7459C>G (p.Leu2487Val) c.7393C>G (p.Leu2465Val) c.7456C>G (p.Leu2486Val) c.7453C>G (p.Leu2485Val) c.7399C>G (p.Leu2467Val) c.7369C>G (p.Leu2457Val) c.7324C>G (p.Leu2442Val) c.6919C>G (p.Leu2307Val) c.6277C>G (p.Leu2093Val) c.3787C>G (p.Leu1263Val) | gnomAD v4 COSMIC |
| 10 | g.71799531C>T | CA470282068 | CDH23 | c.7264C>T (p.Leu2422=) c.1197C>T (n.1197C>T) c.861C>T (n.861C>T) c.7279C>T (p.Leu2427=) c.544C>T (p.Leu182=) n.800C>T c.7459C>T (p.Leu2487=) c.7393C>T (p.Leu2465=) c.7456C>T (p.Leu2486=) c.7453C>T (p.Leu2485=) c.7399C>T (p.Leu2467=) c.7369C>T (p.Leu2457=) c.7324C>T (p.Leu2442=) c.6919C>T (p.Leu2307=) c.6277C>T (p.Leu2093=) c.3787C>T (p.Leu1263=) | ClinVar gnomAD v4 |
| 10 | g.71799532T>A | CA377159284 | CDH23 | c.7265T>A (p.Leu2422Gln) c.1198T>A (n.1198T>A) c.862T>A (n.862T>A) c.7280T>A (p.Leu2427Gln) c.545T>A (p.Leu182Gln) n.801T>A c.7460T>A (p.Leu2487Gln) c.7394T>A (p.Leu2465Gln) c.7457T>A (p.Leu2486Gln) c.7454T>A (p.Leu2485Gln) c.7400T>A (p.Leu2467Gln) c.7370T>A (p.Leu2457Gln) c.7325T>A (p.Leu2442Gln) c.6920T>A (p.Leu2307Gln) c.6278T>A (p.Leu2093Gln) c.3788T>A (p.Leu1263Gln) | |
| 10 | g.71799532T>C | CA377159282 | CDH23 | c.7265T>C (p.Leu2422Pro) c.1198T>C (n.1198T>C) c.862T>C (n.862T>C) c.7280T>C (p.Leu2427Pro) c.545T>C (p.Leu182Pro) n.801T>C c.7460T>C (p.Leu2487Pro) c.7394T>C (p.Leu2465Pro) c.7457T>C (p.Leu2486Pro) c.7454T>C (p.Leu2485Pro) c.7400T>C (p.Leu2467Pro) c.7370T>C (p.Leu2457Pro) c.7325T>C (p.Leu2442Pro) c.6920T>C (p.Leu2307Pro) c.6278T>C (p.Leu2093Pro) c.3788T>C (p.Leu1263Pro) | |
| 10 | g.71799532T>G | CA377159283 | CDH23 | c.7265T>G (p.Leu2422Arg) c.1198T>G (n.1198T>G) c.862T>G (n.862T>G) c.7280T>G (p.Leu2427Arg) c.545T>G (p.Leu182Arg) n.801T>G c.7460T>G (p.Leu2487Arg) c.7394T>G (p.Leu2465Arg) c.7457T>G (p.Leu2486Arg) c.7454T>G (p.Leu2485Arg) c.7400T>G (p.Leu2467Arg) c.7370T>G (p.Leu2457Arg) c.7325T>G (p.Leu2442Arg) c.6920T>G (p.Leu2307Arg) c.6278T>G (p.Leu2093Arg) c.3788T>G (p.Leu1263Arg) | |
| 10 | g.71799533G>A | CA470282072 | CDH23 | c.7266G>A (p.Leu2422=) c.1199G>A (n.1199G>A) c.863G>A (n.863G>A) c.7281G>A (p.Leu2427=) c.546G>A (p.Leu182=) n.802G>A c.7461G>A (p.Leu2487=) c.7395G>A (p.Leu2465=) c.7458G>A (p.Leu2486=) c.7455G>A (p.Leu2485=) c.7401G>A (p.Leu2467=) c.7371G>A (p.Leu2457=) c.7326G>A (p.Leu2442=) c.6921G>A (p.Leu2307=) c.6279G>A (p.Leu2093=) c.3789G>A (p.Leu1263=) | gnomAD v4 |
| 10 | g.71799533G>C | CA470282073 | CDH23 | c.7266G>C (p.Leu2422=) c.1199G>C (n.1199G>C) c.863G>C (n.863G>C) c.7281G>C (p.Leu2427=) c.546G>C (p.Leu182=) n.802G>C c.7461G>C (p.Leu2487=) c.7395G>C (p.Leu2465=) c.7458G>C (p.Leu2486=) c.7455G>C (p.Leu2485=) c.7401G>C (p.Leu2467=) c.7371G>C (p.Leu2457=) c.7326G>C (p.Leu2442=) c.6921G>C (p.Leu2307=) c.6279G>C (p.Leu2093=) c.3789G>C (p.Leu1263=) | gnomAD v4 |
| 10 | g.71799533G>T | CA470282074 | CDH23 | c.7266G>T (p.Leu2422=) c.1199G>T (n.1199G>T) c.863G>T (n.863G>T) c.7281G>T (p.Leu2427=) c.546G>T (p.Leu182=) n.802G>T c.7461G>T (p.Leu2487=) c.7395G>T (p.Leu2465=) c.7458G>T (p.Leu2486=) c.7455G>T (p.Leu2485=) c.7401G>T (p.Leu2467=) c.7371G>T (p.Leu2457=) c.7326G>T (p.Leu2442=) c.6921G>T (p.Leu2307=) c.6279G>T (p.Leu2093=) c.3789G>T (p.Leu1263=) | |
| 10 | g.71799534A>C | CA377159285 | CDH23 | c.7267A>C (p.Thr2423Pro) c.1200A>C (n.1200A>C) c.864A>C (n.864A>C) c.7282A>C (p.Thr2428Pro) c.547A>C (p.Thr183Pro) n.803A>C c.7462A>C (p.Thr2488Pro) c.7396A>C (p.Thr2466Pro) c.7459A>C (p.Thr2487Pro) c.7456A>C (p.Thr2486Pro) c.7402A>C (p.Thr2468Pro) c.7372A>C (p.Thr2458Pro) c.7327A>C (p.Thr2443Pro) c.6922A>C (p.Thr2308Pro) c.6280A>C (p.Thr2094Pro) c.3790A>C (p.Thr1264Pro) | |
| 10 | g.71799534A>G | CA377159287 | CDH23 | c.7267A>G (p.Thr2423Ala) c.1200A>G (n.1200A>G) c.864A>G (n.864A>G) c.7282A>G (p.Thr2428Ala) c.547A>G (p.Thr183Ala) n.803A>G c.7462A>G (p.Thr2488Ala) c.7396A>G (p.Thr2466Ala) c.7459A>G (p.Thr2487Ala) c.7456A>G (p.Thr2486Ala) c.7402A>G (p.Thr2468Ala) c.7372A>G (p.Thr2458Ala) c.7327A>G (p.Thr2443Ala) c.6922A>G (p.Thr2308Ala) c.6280A>G (p.Thr2094Ala) c.3790A>G (p.Thr1264Ala) | |
| 10 | g.71799534A>T | CA377159289 | CDH23 | c.7267A>T (p.Thr2423Ser) c.1200A>T (n.1200A>T) c.864A>T (n.864A>T) c.7282A>T (p.Thr2428Ser) c.547A>T (p.Thr183Ser) n.803A>T c.7462A>T (p.Thr2488Ser) c.7396A>T (p.Thr2466Ser) c.7459A>T (p.Thr2487Ser) c.7456A>T (p.Thr2486Ser) c.7402A>T (p.Thr2468Ser) c.7372A>T (p.Thr2458Ser) c.7327A>T (p.Thr2443Ser) c.6922A>T (p.Thr2308Ser) c.6280A>T (p.Thr2094Ser) c.3790A>T (p.Thr1264Ser) | |
| 10 | g.71799535C>A | CA377159290 | CDH23 | c.7268C>A (p.Thr2423Lys) c.1201C>A (n.1201C>A) c.865C>A (n.865C>A) c.7283C>A (p.Thr2428Lys) c.548C>A (p.Thr183Lys) n.804C>A c.7463C>A (p.Thr2488Lys) c.7397C>A (p.Thr2466Lys) c.7460C>A (p.Thr2487Lys) c.7457C>A (p.Thr2486Lys) c.7403C>A (p.Thr2468Lys) c.7373C>A (p.Thr2458Lys) c.7328C>A (p.Thr2443Lys) c.6923C>A (p.Thr2308Lys) c.6281C>A (p.Thr2094Lys) c.3791C>A (p.Thr1264Lys) | |
| 10 | g.71799535C>G | CA377159292 | CDH23 | c.7268C>G (p.Thr2423Arg) c.1201C>G (n.1201C>G) c.865C>G (n.865C>G) c.7283C>G (p.Thr2428Arg) c.548C>G (p.Thr183Arg) n.804C>G c.7463C>G (p.Thr2488Arg) c.7397C>G (p.Thr2466Arg) c.7460C>G (p.Thr2487Arg) c.7457C>G (p.Thr2486Arg) c.7403C>G (p.Thr2468Arg) c.7373C>G (p.Thr2458Arg) c.7328C>G (p.Thr2443Arg) c.6923C>G (p.Thr2308Arg) c.6281C>G (p.Thr2094Arg) c.3791C>G (p.Thr1264Arg) | |
| 10 | g.71799535C>T | CA377159293 | CDH23 | c.7268C>T (p.Thr2423Ile) c.1201C>T (n.1201C>T) c.865C>T (n.865C>T) c.7283C>T (p.Thr2428Ile) c.548C>T (p.Thr183Ile) n.804C>T c.7463C>T (p.Thr2488Ile) c.7397C>T (p.Thr2466Ile) c.7460C>T (p.Thr2487Ile) c.7457C>T (p.Thr2486Ile) c.7403C>T (p.Thr2468Ile) c.7373C>T (p.Thr2458Ile) c.7328C>T (p.Thr2443Ile) c.6923C>T (p.Thr2308Ile) c.6281C>T (p.Thr2094Ile) c.3791C>T (p.Thr1264Ile) | |
| 10 | g.71799536A>C | CA470282077 | CDH23 | c.7269A>C (p.Thr2423=) c.1202A>C (n.1202A>C) c.866A>C (n.866A>C) c.7284A>C (p.Thr2428=) c.549A>C (p.Thr183=) n.805A>C c.7464A>C (p.Thr2488=) c.7398A>C (p.Thr2466=) c.7461A>C (p.Thr2487=) c.7458A>C (p.Thr2486=) c.7404A>C (p.Thr2468=) c.7374A>C (p.Thr2458=) c.7329A>C (p.Thr2443=) c.6924A>C (p.Thr2308=) c.6282A>C (p.Thr2094=) c.3792A>C (p.Thr1264=) | |
| 10 | g.71799536A>G | CA470282078 | CDH23 | c.7269A>G (p.Thr2423=) c.1202A>G (n.1202A>G) c.866A>G (n.866A>G) c.7284A>G (p.Thr2428=) c.549A>G (p.Thr183=) n.805A>G c.7464A>G (p.Thr2488=) c.7398A>G (p.Thr2466=) c.7461A>G (p.Thr2487=) c.7458A>G (p.Thr2486=) c.7404A>G (p.Thr2468=) c.7374A>G (p.Thr2458=) c.7329A>G (p.Thr2443=) c.6924A>G (p.Thr2308=) c.6282A>G (p.Thr2094=) c.3792A>G (p.Thr1264=) | |
| 10 | g.71799536A>T | CA470282079 | CDH23 | c.7269A>T (p.Thr2423=) c.1202A>T (n.1202A>T) c.866A>T (n.866A>T) c.7284A>T (p.Thr2428=) c.549A>T (p.Thr183=) n.805A>T c.7464A>T (p.Thr2488=) c.7398A>T (p.Thr2466=) c.7461A>T (p.Thr2487=) c.7458A>T (p.Thr2486=) c.7404A>T (p.Thr2468=) c.7374A>T (p.Thr2458=) c.7329A>T (p.Thr2443=) c.6924A>T (p.Thr2308=) c.6282A>T (p.Thr2094=) c.3792A>T (p.Thr1264=) | |
| 10 | g.71799537G>A | CA377159295 | CDH23 | c.7270G>A (p.Val2424Ile) c.1203G>A (n.1203G>A) c.867G>A (n.867G>A) c.7285G>A (p.Val2429Ile) c.550G>A (p.Val184Ile) n.806G>A c.7465G>A (p.Val2489Ile) c.7399G>A (p.Val2467Ile) c.7462G>A (p.Val2488Ile) c.7459G>A (p.Val2487Ile) c.7405G>A (p.Val2469Ile) c.7375G>A (p.Val2459Ile) c.7330G>A (p.Val2444Ile) c.6925G>A (p.Val2309Ile) c.6283G>A (p.Val2095Ile) c.3793G>A (p.Val1265Ile) | gnomAD v4 |
| 10 | g.71799537G>C | CA377159297 | CDH23 | c.7270G>C (p.Val2424Leu) c.1203G>C (n.1203G>C) c.867G>C (n.867G>C) c.7285G>C (p.Val2429Leu) c.550G>C (p.Val184Leu) n.806G>C c.7465G>C (p.Val2489Leu) c.7399G>C (p.Val2467Leu) c.7462G>C (p.Val2488Leu) c.7459G>C (p.Val2487Leu) c.7405G>C (p.Val2469Leu) c.7375G>C (p.Val2459Leu) c.7330G>C (p.Val2444Leu) c.6925G>C (p.Val2309Leu) c.6283G>C (p.Val2095Leu) c.3793G>C (p.Val1265Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71799537G= | CA1918878919 | CDH23 | c.7270G= (p.Val2424=) c.1203G= (n.1203G=) c.867G= (n.867G=) c.7285G= (p.Val2429=) c.550G= (p.Val184=) n.806G= c.7465G= (p.Val2489=) c.7399G= (p.Val2467=) c.7462G= (p.Val2488=) c.7459G= (p.Val2487=) c.7405G= (p.Val2469=) c.7375G= (p.Val2459=) c.7330G= (p.Val2444=) c.6925G= (p.Val2309=) c.6283G= (p.Val2095=) c.3793G= (p.Val1265=) | |
| 10 | g.71799537G>T | CA377159296 | CDH23 | c.7270G>T (p.Val2424Phe) c.1203G>T (n.1203G>T) c.867G>T (n.867G>T) c.7285G>T (p.Val2429Phe) c.550G>T (p.Val184Phe) n.806G>T c.7465G>T (p.Val2489Phe) c.7399G>T (p.Val2467Phe) c.7462G>T (p.Val2488Phe) c.7459G>T (p.Val2487Phe) c.7405G>T (p.Val2469Phe) c.7375G>T (p.Val2459Phe) c.7330G>T (p.Val2444Phe) c.6925G>T (p.Val2309Phe) c.6283G>T (p.Val2095Phe) c.3793G>T (p.Val1265Phe) | |
| 10 | g.71799538T>A | CA377159298 | CDH23 | c.7271T>A (p.Val2424Asp) c.1204T>A (n.1204T>A) c.868T>A (n.868T>A) c.7286T>A (p.Val2429Asp) c.551T>A (p.Val184Asp) n.807T>A c.7466T>A (p.Val2489Asp) c.7400T>A (p.Val2467Asp) c.7463T>A (p.Val2488Asp) c.7460T>A (p.Val2487Asp) c.7406T>A (p.Val2469Asp) c.7376T>A (p.Val2459Asp) c.7331T>A (p.Val2444Asp) c.6926T>A (p.Val2309Asp) c.6284T>A (p.Val2095Asp) c.3794T>A (p.Val1265Asp) | |
| 10 | g.71799538T>C | CA377159299 | CDH23 | c.7271T>C (p.Val2424Ala) c.1204T>C (n.1204T>C) c.868T>C (n.868T>C) c.7286T>C (p.Val2429Ala) c.551T>C (p.Val184Ala) n.807T>C c.7466T>C (p.Val2489Ala) c.7400T>C (p.Val2467Ala) c.7463T>C (p.Val2488Ala) c.7460T>C (p.Val2487Ala) c.7406T>C (p.Val2469Ala) c.7376T>C (p.Val2459Ala) c.7331T>C (p.Val2444Ala) c.6926T>C (p.Val2309Ala) c.6284T>C (p.Val2095Ala) c.3794T>C (p.Val1265Ala) | |
| 10 | g.71799538T>G | CA377159300 | CDH23 | c.7271T>G (p.Val2424Gly) c.1204T>G (n.1204T>G) c.868T>G (n.868T>G) c.7286T>G (p.Val2429Gly) c.551T>G (p.Val184Gly) n.807T>G c.7466T>G (p.Val2489Gly) c.7400T>G (p.Val2467Gly) c.7463T>G (p.Val2488Gly) c.7460T>G (p.Val2487Gly) c.7406T>G (p.Val2469Gly) c.7376T>G (p.Val2459Gly) c.7331T>G (p.Val2444Gly) c.6926T>G (p.Val2309Gly) c.6284T>G (p.Val2095Gly) c.3794T>G (p.Val1265Gly) | |
| 10 | g.71799539C>A | CA470282083 | CDH23 | c.7272C>A (p.Val2424=) c.1205C>A (n.1205C>A) c.869C>A (n.869C>A) c.7287C>A (p.Val2429=) c.552C>A (p.Val184=) n.808C>A c.7467C>A (p.Val2489=) c.7401C>A (p.Val2467=) c.7464C>A (p.Val2488=) c.7461C>A (p.Val2487=) c.7407C>A (p.Val2469=) c.7377C>A (p.Val2459=) c.7332C>A (p.Val2444=) c.6927C>A (p.Val2309=) c.6285C>A (p.Val2095=) c.3795C>A (p.Val1265=) | |
| 10 | g.71799539C>G | CA470282085 | CDH23 | c.7272C>G (p.Val2424=) c.1205C>G (n.1205C>G) c.869C>G (n.869C>G) c.7287C>G (p.Val2429=) c.552C>G (p.Val184=) n.808C>G c.7467C>G (p.Val2489=) c.7401C>G (p.Val2467=) c.7464C>G (p.Val2488=) c.7461C>G (p.Val2487=) c.7407C>G (p.Val2469=) c.7377C>G (p.Val2459=) c.7332C>G (p.Val2444=) c.6927C>G (p.Val2309=) c.6285C>G (p.Val2095=) c.3795C>G (p.Val1265=) | |
| 10 | g.71799539C>T | CA470282084 | CDH23 | c.7272C>T (p.Val2424=) c.1205C>T (n.1205C>T) c.869C>T (n.869C>T) c.7287C>T (p.Val2429=) c.552C>T (p.Val184=) n.808C>T c.7467C>T (p.Val2489=) c.7401C>T (p.Val2467=) c.7464C>T (p.Val2488=) c.7461C>T (p.Val2487=) c.7407C>T (p.Val2469=) c.7377C>T (p.Val2459=) c.7332C>T (p.Val2444=) c.6927C>T (p.Val2309=) c.6285C>T (p.Val2095=) c.3795C>T (p.Val1265=) | |
| 10 | g.71799540A>C | CA377159301 | CDH23 | c.7273A>C (p.Thr2425Pro) c.1206A>C (n.1206A>C) c.870A>C (n.870A>C) c.7288A>C (p.Thr2430Pro) c.553A>C (p.Thr185Pro) n.809A>C c.7468A>C (p.Thr2490Pro) c.7402A>C (p.Thr2468Pro) c.7465A>C (p.Thr2489Pro) c.7462A>C (p.Thr2488Pro) c.7408A>C (p.Thr2470Pro) c.7378A>C (p.Thr2460Pro) c.7333A>C (p.Thr2445Pro) c.6928A>C (p.Thr2310Pro) c.6286A>C (p.Thr2096Pro) c.3796A>C (p.Thr1266Pro) | |
| 10 | g.71799540A>G | CA377159302 | CDH23 | c.7273A>G (p.Thr2425Ala) c.1206A>G (n.1206A>G) c.870A>G (n.870A>G) c.7288A>G (p.Thr2430Ala) c.553A>G (p.Thr185Ala) n.809A>G c.7468A>G (p.Thr2490Ala) c.7402A>G (p.Thr2468Ala) c.7465A>G (p.Thr2489Ala) c.7462A>G (p.Thr2488Ala) c.7408A>G (p.Thr2470Ala) c.7378A>G (p.Thr2460Ala) c.7333A>G (p.Thr2445Ala) c.6928A>G (p.Thr2310Ala) c.6286A>G (p.Thr2096Ala) c.3796A>G (p.Thr1266Ala) | |
| 10 | g.71799540A>T | CA377159303 | CDH23 | c.7273A>T (p.Thr2425Ser) c.1206A>T (n.1206A>T) c.870A>T (n.870A>T) c.7288A>T (p.Thr2430Ser) c.553A>T (p.Thr185Ser) n.809A>T c.7468A>T (p.Thr2490Ser) c.7402A>T (p.Thr2468Ser) c.7465A>T (p.Thr2489Ser) c.7462A>T (p.Thr2488Ser) c.7408A>T (p.Thr2470Ser) c.7378A>T (p.Thr2460Ser) c.7333A>T (p.Thr2445Ser) c.6928A>T (p.Thr2310Ser) c.6286A>T (p.Thr2096Ser) c.3796A>T (p.Thr1266Ser) | |
| 10 | g.71799540_71799542delinsACT | CA1918878920 | CDH23 | c.7273_7275delinsACT (p.Thr2425=) c.1206_1208delinsACT (n.1206_1208delinsACT) c.870_872delinsACT (n.870_872delinsACT) c.7288_7290delinsACT (p.Thr2430=) c.553_555delinsACT (p.Thr185=) n.809_811delinsACT c.7468_7470delinsACT (p.Thr2490=) c.7402_7404delinsACT (p.Thr2468=) c.7465_7467delinsACT (p.Thr2489=) c.7462_7464delinsACT (p.Thr2488=) c.7408_7410delinsACT (p.Thr2470=) c.7378_7380delinsACT (p.Thr2460=) c.7333_7335delinsACT (p.Thr2445=) c.6928_6930delinsACT (p.Thr2310=) c.6286_6288delinsACT (p.Thr2096=) c.3796_3798delinsACT (p.Thr1266=) | |
| 10 | g.71799541C>A | CA377159306 | CDH23 | c.7274C>A (p.Thr2425Asn) c.1207C>A (n.1207C>A) c.871C>A (n.871C>A) c.7289C>A (p.Thr2430Asn) c.554C>A (p.Thr185Asn) n.810C>A c.7469C>A (p.Thr2490Asn) c.7403C>A (p.Thr2468Asn) c.7466C>A (p.Thr2489Asn) c.7463C>A (p.Thr2488Asn) c.7409C>A (p.Thr2470Asn) c.7379C>A (p.Thr2460Asn) c.7334C>A (p.Thr2445Asn) c.6929C>A (p.Thr2310Asn) c.6287C>A (p.Thr2096Asn) c.3797C>A (p.Thr1266Asn) | |
| 10 | g.71799541C= | CA1918878921 | CDH23 | c.7274C= (p.Thr2425=) c.1207C= (n.1207C=) c.871C= (n.871C=) c.7289C= (p.Thr2430=) c.554C= (p.Thr185=) n.810C= c.7469C= (p.Thr2490=) c.7403C= (p.Thr2468=) c.7466C= (p.Thr2489=) c.7463C= (p.Thr2488=) c.7409C= (p.Thr2470=) c.7379C= (p.Thr2460=) c.7334C= (p.Thr2445=) c.6929C= (p.Thr2310=) c.6287C= (p.Thr2096=) c.3797C= (p.Thr1266=) | |
| 10 | g.71799541C>G | CA377159307 | CDH23 | c.7274C>G (p.Thr2425Ser) c.1207C>G (n.1207C>G) c.871C>G (n.871C>G) c.7289C>G (p.Thr2430Ser) c.554C>G (p.Thr185Ser) n.810C>G c.7469C>G (p.Thr2490Ser) c.7403C>G (p.Thr2468Ser) c.7466C>G (p.Thr2489Ser) c.7463C>G (p.Thr2488Ser) c.7409C>G (p.Thr2470Ser) c.7379C>G (p.Thr2460Ser) c.7334C>G (p.Thr2445Ser) c.6929C>G (p.Thr2310Ser) c.6287C>G (p.Thr2096Ser) c.3797C>G (p.Thr1266Ser) | |
| 10 | g.71799541C>T | CA377159308 | CDH23 | c.7274C>T (p.Thr2425Ile) c.1207C>T (n.1207C>T) c.871C>T (n.871C>T) c.7289C>T (p.Thr2430Ile) c.554C>T (p.Thr185Ile) n.810C>T c.7469C>T (p.Thr2490Ile) c.7403C>T (p.Thr2468Ile) c.7466C>T (p.Thr2489Ile) c.7463C>T (p.Thr2488Ile) c.7409C>T (p.Thr2470Ile) c.7379C>T (p.Thr2460Ile) c.7334C>T (p.Thr2445Ile) c.6929C>T (p.Thr2310Ile) c.6287C>T (p.Thr2096Ile) c.3797C>T (p.Thr1266Ile) | dbSNP |
| 10 | g.71799541_71799542del | CA929793068 | CDH23 | c.7274_7275del (p.Thr2425SerfsTer3) c.1207_1208del (n.1207_1208del) c.871_872del (n.871_872del) c.7289_7290del (p.Thr2430SerfsTer3) c.554_555del (p.Thr185SerfsTer3) n.810_811del c.7469_7470del (p.Thr2490SerfsTer3) c.7403_7404del (p.Thr2468SerfsTer3) c.7466_7467del (p.Thr2489SerfsTer3) c.7463_7464del (p.Thr2488SerfsTer3) c.7409_7410del (p.Thr2470SerfsTer3) c.7379_7380del (p.Thr2460SerfsTer3) c.7334_7335del (p.Thr2445SerfsTer3) c.6929_6930del (p.Thr2310SerfsTer3) c.6287_6288del (p.Thr2096SerfsTer3) c.3797_3798del (p.Thr1266SerfsTer3) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71799542T>A | CA470282087 | CDH23 | c.7275T>A (p.Thr2425=) c.1208T>A (n.1208T>A) c.872T>A (n.872T>A) c.7290T>A (p.Thr2430=) c.555T>A (p.Thr185=) n.811T>A c.7470T>A (p.Thr2490=) c.7404T>A (p.Thr2468=) c.7467T>A (p.Thr2489=) c.7464T>A (p.Thr2488=) c.7410T>A (p.Thr2470=) c.7380T>A (p.Thr2460=) c.7335T>A (p.Thr2445=) c.6930T>A (p.Thr2310=) c.6288T>A (p.Thr2096=) c.3798T>A (p.Thr1266=) | |
| 10 | g.71799542T>C | CA470282088 | CDH23 | c.7275T>C (p.Thr2425=) c.1208T>C (n.1208T>C) c.872T>C (n.872T>C) c.7290T>C (p.Thr2430=) c.555T>C (p.Thr185=) n.811T>C c.7470T>C (p.Thr2490=) c.7404T>C (p.Thr2468=) c.7467T>C (p.Thr2489=) c.7464T>C (p.Thr2488=) c.7410T>C (p.Thr2470=) c.7380T>C (p.Thr2460=) c.7335T>C (p.Thr2445=) c.6930T>C (p.Thr2310=) c.6288T>C (p.Thr2096=) c.3798T>C (p.Thr1266=) | |
| 10 | g.71799542T>G | CA470282090 | CDH23 | c.7275T>G (p.Thr2425=) c.1208T>G (n.1208T>G) c.872T>G (n.872T>G) c.7290T>G (p.Thr2430=) c.555T>G (p.Thr185=) n.811T>G c.7470T>G (p.Thr2490=) c.7404T>G (p.Thr2468=) c.7467T>G (p.Thr2489=) c.7464T>G (p.Thr2488=) c.7410T>G (p.Thr2470=) c.7380T>G (p.Thr2460=) c.7335T>G (p.Thr2445=) c.6930T>G (p.Thr2310=) c.6288T>G (p.Thr2096=) c.3798T>G (p.Thr1266=) | |
| 10 | g.71799543G>A | CA377159310 | CDH23 | c.7276G>A (p.Ala2426Thr) c.1209G>A (n.1209G>A) c.873G>A (n.873G>A) c.7291G>A (p.Ala2431Thr) c.556G>A (p.Ala186Thr) n.812G>A c.7471G>A (p.Ala2491Thr) c.7405G>A (p.Ala2469Thr) c.7468G>A (p.Ala2490Thr) c.7465G>A (p.Ala2489Thr) c.7411G>A (p.Ala2471Thr) c.7381G>A (p.Ala2461Thr) c.7336G>A (p.Ala2446Thr) c.6931G>A (p.Ala2311Thr) c.6289G>A (p.Ala2097Thr) c.3799G>A (p.Ala1267Thr) | |
| 10 | g.71799543G>C | CA377159312 | CDH23 | c.7276G>C (p.Ala2426Pro) c.1209G>C (n.1209G>C) c.873G>C (n.873G>C) c.7291G>C (p.Ala2431Pro) c.556G>C (p.Ala186Pro) n.812G>C c.7471G>C (p.Ala2491Pro) c.7405G>C (p.Ala2469Pro) c.7468G>C (p.Ala2490Pro) c.7465G>C (p.Ala2489Pro) c.7411G>C (p.Ala2471Pro) c.7381G>C (p.Ala2461Pro) c.7336G>C (p.Ala2446Pro) c.6931G>C (p.Ala2311Pro) c.6289G>C (p.Ala2097Pro) c.3799G>C (p.Ala1267Pro) | |
| 10 | g.71799543G>T | CA377159316 | CDH23 | c.7276G>T (p.Ala2426Ser) c.1209G>T (n.1209G>T) c.873G>T (n.873G>T) c.7291G>T (p.Ala2431Ser) c.556G>T (p.Ala186Ser) n.812G>T c.7471G>T (p.Ala2491Ser) c.7405G>T (p.Ala2469Ser) c.7468G>T (p.Ala2490Ser) c.7465G>T (p.Ala2489Ser) c.7411G>T (p.Ala2471Ser) c.7381G>T (p.Ala2461Ser) c.7336G>T (p.Ala2446Ser) c.6931G>T (p.Ala2311Ser) c.6289G>T (p.Ala2097Ser) c.3799G>T (p.Ala1267Ser) |