Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71800649T>A | CA377159834 | CDH23 | c.7376T>A (p.Val2459Glu) c.1309T>A (n.1309T>A) c.973T>A (n.973T>A) c.7391T>A (p.Val2464Glu) c.656T>A (p.Val219Glu) n.912T>A c.7571T>A (p.Val2524Glu) c.7505T>A (p.Val2502Glu) c.7568T>A (p.Val2523Glu) c.7565T>A (p.Val2522Glu) c.7511T>A (p.Val2504Glu) c.7481T>A (p.Val2494Glu) c.7436T>A (p.Val2479Glu) c.7031T>A (p.Val2344Glu) c.6389T>A (p.Val2130Glu) c.3899T>A (p.Val1300Glu) | |
10 | g.71800649T>C | CA209471044 | CDH23 | c.7376T>C (p.Val2459Ala) c.1309T>C (n.1309T>C) c.973T>C (n.973T>C) c.7391T>C (p.Val2464Ala) c.656T>C (p.Val219Ala) n.912T>C c.7571T>C (p.Val2524Ala) c.7505T>C (p.Val2502Ala) c.7568T>C (p.Val2523Ala) c.7565T>C (p.Val2522Ala) c.7511T>C (p.Val2504Ala) c.7481T>C (p.Val2494Ala) c.7436T>C (p.Val2479Ala) c.7031T>C (p.Val2344Ala) c.6389T>C (p.Val2130Ala) c.3899T>C (p.Val1300Ala) | dbSNP gnomAD v4 |
10 | g.71800649T>G | CA377159833 | CDH23 | c.7376T>G (p.Val2459Gly) c.1309T>G (n.1309T>G) c.973T>G (n.973T>G) c.7391T>G (p.Val2464Gly) c.656T>G (p.Val219Gly) n.912T>G c.7571T>G (p.Val2524Gly) c.7505T>G (p.Val2502Gly) c.7568T>G (p.Val2523Gly) c.7565T>G (p.Val2522Gly) c.7511T>G (p.Val2504Gly) c.7481T>G (p.Val2494Gly) c.7436T>G (p.Val2479Gly) c.7031T>G (p.Val2344Gly) c.6389T>G (p.Val2130Gly) c.3899T>G (p.Val1300Gly) | gnomAD v4 |
10 | g.71800649T= | CA1918879387 | CDH23 | c.7376T= (p.Val2459=) c.1309T= (n.1309T=) c.973T= (n.973T=) c.7391T= (p.Val2464=) c.656T= (p.Val219=) n.912T= c.7571T= (p.Val2524=) c.7505T= (p.Val2502=) c.7568T= (p.Val2523=) c.7565T= (p.Val2522=) c.7511T= (p.Val2504=) c.7481T= (p.Val2494=) c.7436T= (p.Val2479=) c.7031T= (p.Val2344=) c.6389T= (p.Val2130=) c.3899T= (p.Val1300=) | |
10 | g.71800650G>A | CA470062238 | CDH23 | c.7377G>A (p.Val2459=) c.1310G>A (n.1310G>A) c.974G>A (n.974G>A) c.7392G>A (p.Val2464=) c.657G>A (p.Val219=) n.913G>A c.7572G>A (p.Val2524=) c.7506G>A (p.Val2502=) c.7569G>A (p.Val2523=) c.7566G>A (p.Val2522=) c.7512G>A (p.Val2504=) c.7482G>A (p.Val2494=) c.7437G>A (p.Val2479=) c.7032G>A (p.Val2344=) c.6390G>A (p.Val2130=) c.3900G>A (p.Val1300=) | dbSNP |
10 | g.71800650G>C | CA470062240 | CDH23 | c.7377G>C (p.Val2459=) c.1310G>C (n.1310G>C) c.974G>C (n.974G>C) c.7392G>C (p.Val2464=) c.657G>C (p.Val219=) n.913G>C c.7572G>C (p.Val2524=) c.7506G>C (p.Val2502=) c.7569G>C (p.Val2523=) c.7566G>C (p.Val2522=) c.7512G>C (p.Val2504=) c.7482G>C (p.Val2494=) c.7437G>C (p.Val2479=) c.7032G>C (p.Val2344=) c.6390G>C (p.Val2130=) c.3900G>C (p.Val1300=) | |
10 | g.71800650G= | CA1918879388 | CDH23 | c.7377G= (p.Val2459=) c.1310G= (n.1310G=) c.974G= (n.974G=) c.7392G= (p.Val2464=) c.657G= (p.Val219=) n.913G= c.7572G= (p.Val2524=) c.7506G= (p.Val2502=) c.7569G= (p.Val2523=) c.7566G= (p.Val2522=) c.7512G= (p.Val2504=) c.7482G= (p.Val2494=) c.7437G= (p.Val2479=) c.7032G= (p.Val2344=) c.6390G= (p.Val2130=) c.3900G= (p.Val1300=) | |
10 | g.71800650G>T | CA470062239 | CDH23 | c.7377G>T (p.Val2459=) c.1310G>T (n.1310G>T) c.974G>T (n.974G>T) c.7392G>T (p.Val2464=) c.657G>T (p.Val219=) n.913G>T c.7572G>T (p.Val2524=) c.7506G>T (p.Val2502=) c.7569G>T (p.Val2523=) c.7566G>T (p.Val2522=) c.7512G>T (p.Val2504=) c.7482G>T (p.Val2494=) c.7437G>T (p.Val2479=) c.7032G>T (p.Val2344=) c.6390G>T (p.Val2130=) c.3900G>T (p.Val1300=) | ClinVar dbSNP |
10 | g.71800651C>A | CA377159835 | CDH23 | c.7378C>A (p.Leu2460Met) c.1311C>A (n.1311C>A) c.975C>A (n.975C>A) c.7393C>A (p.Leu2465Met) c.658C>A (p.Leu220Met) n.914C>A c.7573C>A (p.Leu2525Met) c.7507C>A (p.Leu2503Met) c.7570C>A (p.Leu2524Met) c.7567C>A (p.Leu2523Met) c.7513C>A (p.Leu2505Met) c.7483C>A (p.Leu2495Met) c.7438C>A (p.Leu2480Met) c.7033C>A (p.Leu2345Met) c.6391C>A (p.Leu2131Met) c.3901C>A (p.Leu1301Met) | |
10 | g.71800651C>G | CA377159836 | CDH23 | c.7378C>G (p.Leu2460Val) c.1311C>G (n.1311C>G) c.975C>G (n.975C>G) c.7393C>G (p.Leu2465Val) c.658C>G (p.Leu220Val) n.914C>G c.7573C>G (p.Leu2525Val) c.7507C>G (p.Leu2503Val) c.7570C>G (p.Leu2524Val) c.7567C>G (p.Leu2523Val) c.7513C>G (p.Leu2505Val) c.7483C>G (p.Leu2495Val) c.7438C>G (p.Leu2480Val) c.7033C>G (p.Leu2345Val) c.6391C>G (p.Leu2131Val) c.3901C>G (p.Leu1301Val) | |
10 | g.71800651C>T | CA470062241 | CDH23 | c.7378C>T (p.Leu2460=) c.1311C>T (n.1311C>T) c.975C>T (n.975C>T) c.7393C>T (p.Leu2465=) c.658C>T (p.Leu220=) n.914C>T c.7573C>T (p.Leu2525=) c.7507C>T (p.Leu2503=) c.7570C>T (p.Leu2524=) c.7567C>T (p.Leu2523=) c.7513C>T (p.Leu2505=) c.7483C>T (p.Leu2495=) c.7438C>T (p.Leu2480=) c.7033C>T (p.Leu2345=) c.6391C>T (p.Leu2131=) c.3901C>T (p.Leu1301=) | |
10 | g.71800652T>A | CA377159837 | CDH23 | c.7379T>A (p.Leu2460Gln) c.1312T>A (n.1312T>A) c.976T>A (n.976T>A) c.7394T>A (p.Leu2465Gln) c.659T>A (p.Leu220Gln) n.915T>A c.7574T>A (p.Leu2525Gln) c.7508T>A (p.Leu2503Gln) c.7571T>A (p.Leu2524Gln) c.7568T>A (p.Leu2523Gln) c.7514T>A (p.Leu2505Gln) c.7484T>A (p.Leu2495Gln) c.7439T>A (p.Leu2480Gln) c.7034T>A (p.Leu2345Gln) c.6392T>A (p.Leu2131Gln) c.3902T>A (p.Leu1301Gln) | |
10 | g.71800652T>C | CA377159838 | CDH23 | c.7379T>C (p.Leu2460Pro) c.1312T>C (n.1312T>C) c.976T>C (n.976T>C) c.7394T>C (p.Leu2465Pro) c.659T>C (p.Leu220Pro) n.915T>C c.7574T>C (p.Leu2525Pro) c.7508T>C (p.Leu2503Pro) c.7571T>C (p.Leu2524Pro) c.7568T>C (p.Leu2523Pro) c.7514T>C (p.Leu2505Pro) c.7484T>C (p.Leu2495Pro) c.7439T>C (p.Leu2480Pro) c.7034T>C (p.Leu2345Pro) c.6392T>C (p.Leu2131Pro) c.3902T>C (p.Leu1301Pro) | gnomAD v4 |
10 | g.71800652T>G | CA377159839 | CDH23 | c.7379T>G (p.Leu2460Arg) c.1312T>G (n.1312T>G) c.976T>G (n.976T>G) c.7394T>G (p.Leu2465Arg) c.659T>G (p.Leu220Arg) n.915T>G c.7574T>G (p.Leu2525Arg) c.7508T>G (p.Leu2503Arg) c.7571T>G (p.Leu2524Arg) c.7568T>G (p.Leu2523Arg) c.7514T>G (p.Leu2505Arg) c.7484T>G (p.Leu2495Arg) c.7439T>G (p.Leu2480Arg) c.7034T>G (p.Leu2345Arg) c.6392T>G (p.Leu2131Arg) c.3902T>G (p.Leu1301Arg) | ClinVar dbSNP |
10 | g.71800652T= | CA1918879389 | CDH23 | c.7379T= (p.Leu2460=) c.1312T= (n.1312T=) c.976T= (n.976T=) c.7394T= (p.Leu2465=) c.659T= (p.Leu220=) n.915T= c.7574T= (p.Leu2525=) c.7508T= (p.Leu2503=) c.7571T= (p.Leu2524=) c.7568T= (p.Leu2523=) c.7514T= (p.Leu2505=) c.7484T= (p.Leu2495=) c.7439T= (p.Leu2480=) c.7034T= (p.Leu2345=) c.6392T= (p.Leu2131=) c.3902T= (p.Leu1301=) | |
10 | g.71800653G>A | CA470062242 | CDH23 | c.7380G>A (p.Leu2460=) c.1313G>A (n.1313G>A) c.977G>A (n.977G>A) c.7395G>A (p.Leu2465=) c.660G>A (p.Leu220=) n.916G>A c.7575G>A (p.Leu2525=) c.7509G>A (p.Leu2503=) c.7572G>A (p.Leu2524=) c.7569G>A (p.Leu2523=) c.7515G>A (p.Leu2505=) c.7485G>A (p.Leu2495=) c.7440G>A (p.Leu2480=) c.7035G>A (p.Leu2345=) c.6393G>A (p.Leu2131=) c.3903G>A (p.Leu1301=) | |
10 | g.71800653G>C | CA470062243 | CDH23 | c.7380G>C (p.Leu2460=) c.1313G>C (n.1313G>C) c.977G>C (n.977G>C) c.7395G>C (p.Leu2465=) c.660G>C (p.Leu220=) n.916G>C c.7575G>C (p.Leu2525=) c.7509G>C (p.Leu2503=) c.7572G>C (p.Leu2524=) c.7569G>C (p.Leu2523=) c.7515G>C (p.Leu2505=) c.7485G>C (p.Leu2495=) c.7440G>C (p.Leu2480=) c.7035G>C (p.Leu2345=) c.6393G>C (p.Leu2131=) c.3903G>C (p.Leu1301=) | ClinVar dbSNP |
10 | g.71800653G>T | CA470062244 | CDH23 | c.7380G>T (p.Leu2460=) c.1313G>T (n.1313G>T) c.977G>T (n.977G>T) c.7395G>T (p.Leu2465=) c.660G>T (p.Leu220=) n.916G>T c.7575G>T (p.Leu2525=) c.7509G>T (p.Leu2503=) c.7572G>T (p.Leu2524=) c.7569G>T (p.Leu2523=) c.7515G>T (p.Leu2505=) c.7485G>T (p.Leu2495=) c.7440G>T (p.Leu2480=) c.7035G>T (p.Leu2345=) c.6393G>T (p.Leu2131=) c.3903G>T (p.Leu1301=) | |
10 | g.71800654T>A | CA377159840 | CDH23 | c.7381T>A (p.Ser2461Thr) c.1314T>A (n.1314T>A) c.978T>A (n.978T>A) c.7396T>A (p.Ser2466Thr) c.661T>A (p.Ser221Thr) n.917T>A c.7576T>A (p.Ser2526Thr) c.7510T>A (p.Ser2504Thr) c.7573T>A (p.Ser2525Thr) c.7570T>A (p.Ser2524Thr) c.7516T>A (p.Ser2506Thr) c.7486T>A (p.Ser2496Thr) c.7441T>A (p.Ser2481Thr) c.7036T>A (p.Ser2346Thr) c.6394T>A (p.Ser2132Thr) c.3904T>A (p.Ser1302Thr) | |
10 | g.71800654T>C | CA377159841 | CDH23 | c.7381T>C (p.Ser2461Pro) c.1314T>C (n.1314T>C) c.978T>C (n.978T>C) c.7396T>C (p.Ser2466Pro) c.661T>C (p.Ser221Pro) n.917T>C c.7576T>C (p.Ser2526Pro) c.7510T>C (p.Ser2504Pro) c.7573T>C (p.Ser2525Pro) c.7570T>C (p.Ser2524Pro) c.7516T>C (p.Ser2506Pro) c.7486T>C (p.Ser2496Pro) c.7441T>C (p.Ser2481Pro) c.7036T>C (p.Ser2346Pro) c.6394T>C (p.Ser2132Pro) c.3904T>C (p.Ser1302Pro) | |
10 | g.71800654T>G | CA377159842 | CDH23 | c.7381T>G (p.Ser2461Ala) c.1314T>G (n.1314T>G) c.978T>G (n.978T>G) c.7396T>G (p.Ser2466Ala) c.661T>G (p.Ser221Ala) n.917T>G c.7576T>G (p.Ser2526Ala) c.7510T>G (p.Ser2504Ala) c.7573T>G (p.Ser2525Ala) c.7570T>G (p.Ser2524Ala) c.7516T>G (p.Ser2506Ala) c.7486T>G (p.Ser2496Ala) c.7441T>G (p.Ser2481Ala) c.7036T>G (p.Ser2346Ala) c.6394T>G (p.Ser2132Ala) c.3904T>G (p.Ser1302Ala) | |
10 | g.71800655C>A | CA377159843 | CDH23 | c.7382C>A (p.Ser2461Tyr) c.1315C>A (n.1315C>A) c.979C>A (n.979C>A) c.7397C>A (p.Ser2466Tyr) c.662C>A (p.Ser221Tyr) n.918C>A c.7577C>A (p.Ser2526Tyr) c.7511C>A (p.Ser2504Tyr) c.7574C>A (p.Ser2525Tyr) c.7571C>A (p.Ser2524Tyr) c.7517C>A (p.Ser2506Tyr) c.7487C>A (p.Ser2496Tyr) c.7442C>A (p.Ser2481Tyr) c.7037C>A (p.Ser2346Tyr) c.6395C>A (p.Ser2132Tyr) c.3905C>A (p.Ser1302Tyr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71800655C= | CA1918879390 | CDH23 | c.7382C= (p.Ser2461=) c.1315C= (n.1315C=) c.979C= (n.979C=) c.7397C= (p.Ser2466=) c.662C= (p.Ser221=) n.918C= c.7577C= (p.Ser2526=) c.7511C= (p.Ser2504=) c.7574C= (p.Ser2525=) c.7571C= (p.Ser2524=) c.7517C= (p.Ser2506=) c.7487C= (p.Ser2496=) c.7442C= (p.Ser2481=) c.7037C= (p.Ser2346=) c.6395C= (p.Ser2132=) c.3905C= (p.Ser1302=) | |
10 | g.71800655C>G | CA5546332 | CDH23 | c.7382C>G (p.Ser2461Cys) c.1315C>G (n.1315C>G) c.979C>G (n.979C>G) c.7397C>G (p.Ser2466Cys) c.662C>G (p.Ser221Cys) n.918C>G c.7577C>G (p.Ser2526Cys) c.7511C>G (p.Ser2504Cys) c.7574C>G (p.Ser2525Cys) c.7571C>G (p.Ser2524Cys) c.7517C>G (p.Ser2506Cys) c.7487C>G (p.Ser2496Cys) c.7442C>G (p.Ser2481Cys) c.7037C>G (p.Ser2346Cys) c.6395C>G (p.Ser2132Cys) c.3905C>G (p.Ser1302Cys) | dbSNP ExAC gnomAD v2 |
10 | g.71800655C>T | CA5546331 | CDH23 | c.7382C>T (p.Ser2461Phe) c.1315C>T (n.1315C>T) c.979C>T (n.979C>T) c.7397C>T (p.Ser2466Phe) c.662C>T (p.Ser221Phe) n.918C>T c.7577C>T (p.Ser2526Phe) c.7511C>T (p.Ser2504Phe) c.7574C>T (p.Ser2525Phe) c.7571C>T (p.Ser2524Phe) c.7517C>T (p.Ser2506Phe) c.7487C>T (p.Ser2496Phe) c.7442C>T (p.Ser2481Phe) c.7037C>T (p.Ser2346Phe) c.6395C>T (p.Ser2132Phe) c.3905C>T (p.Ser1302Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800656T>A | CA470062245 | CDH23 | c.7383T>A (p.Ser2461=) c.1316T>A (n.1316T>A) c.980T>A (n.980T>A) c.7398T>A (p.Ser2466=) c.663T>A (p.Ser221=) n.919T>A c.7578T>A (p.Ser2526=) c.7512T>A (p.Ser2504=) c.7575T>A (p.Ser2525=) c.7572T>A (p.Ser2524=) c.7518T>A (p.Ser2506=) c.7488T>A (p.Ser2496=) c.7443T>A (p.Ser2481=) c.7038T>A (p.Ser2346=) c.6396T>A (p.Ser2132=) c.3906T>A (p.Ser1302=) | |
10 | g.71800656T>C | CA470062247 | CDH23 | c.7383T>C (p.Ser2461=) c.1316T>C (n.1316T>C) c.980T>C (n.980T>C) c.7398T>C (p.Ser2466=) c.663T>C (p.Ser221=) n.919T>C c.7578T>C (p.Ser2526=) c.7512T>C (p.Ser2504=) c.7575T>C (p.Ser2525=) c.7572T>C (p.Ser2524=) c.7518T>C (p.Ser2506=) c.7488T>C (p.Ser2496=) c.7443T>C (p.Ser2481=) c.7038T>C (p.Ser2346=) c.6396T>C (p.Ser2132=) c.3906T>C (p.Ser1302=) | |
10 | g.71800656T>G | CA470062246 | CDH23 | c.7383T>G (p.Ser2461=) c.1316T>G (n.1316T>G) c.980T>G (n.980T>G) c.7398T>G (p.Ser2466=) c.663T>G (p.Ser221=) n.919T>G c.7578T>G (p.Ser2526=) c.7512T>G (p.Ser2504=) c.7575T>G (p.Ser2525=) c.7572T>G (p.Ser2524=) c.7518T>G (p.Ser2506=) c.7488T>G (p.Ser2496=) c.7443T>G (p.Ser2481=) c.7038T>G (p.Ser2346=) c.6396T>G (p.Ser2132=) c.3906T>G (p.Ser1302=) | |
10 | g.71800657T>A | CA377159845 | CDH23 | c.7384T>A (p.Ser2462Thr) c.1317T>A (n.1317T>A) c.981T>A (n.981T>A) c.7399T>A (p.Ser2467Thr) c.664T>A (p.Ser222Thr) n.920T>A c.7579T>A (p.Ser2527Thr) c.7513T>A (p.Ser2505Thr) c.7576T>A (p.Ser2526Thr) c.7573T>A (p.Ser2525Thr) c.7519T>A (p.Ser2507Thr) c.7489T>A (p.Ser2497Thr) c.7444T>A (p.Ser2482Thr) c.7039T>A (p.Ser2347Thr) c.6397T>A (p.Ser2133Thr) c.3907T>A (p.Ser1303Thr) | |
10 | g.71800657T>C | CA5546333 | CDH23 | c.7384T>C (p.Ser2462Pro) c.1317T>C (n.1317T>C) c.981T>C (n.981T>C) c.7399T>C (p.Ser2467Pro) c.664T>C (p.Ser222Pro) n.920T>C c.7579T>C (p.Ser2527Pro) c.7513T>C (p.Ser2505Pro) c.7576T>C (p.Ser2526Pro) c.7573T>C (p.Ser2525Pro) c.7519T>C (p.Ser2507Pro) c.7489T>C (p.Ser2497Pro) c.7444T>C (p.Ser2482Pro) c.7039T>C (p.Ser2347Pro) c.6397T>C (p.Ser2133Pro) c.3907T>C (p.Ser1303Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800657T>G | CA377159844 | CDH23 | c.7384T>G (p.Ser2462Ala) c.1317T>G (n.1317T>G) c.981T>G (n.981T>G) c.7399T>G (p.Ser2467Ala) c.664T>G (p.Ser222Ala) n.920T>G c.7579T>G (p.Ser2527Ala) c.7513T>G (p.Ser2505Ala) c.7576T>G (p.Ser2526Ala) c.7573T>G (p.Ser2525Ala) c.7519T>G (p.Ser2507Ala) c.7489T>G (p.Ser2497Ala) c.7444T>G (p.Ser2482Ala) c.7039T>G (p.Ser2347Ala) c.6397T>G (p.Ser2133Ala) c.3907T>G (p.Ser1303Ala) | |
10 | g.71800657T= | CA1918879391 | CDH23 | c.7384T= (p.Ser2462=) c.1317T= (n.1317T=) c.981T= (n.981T=) c.7399T= (p.Ser2467=) c.664T= (p.Ser222=) n.920T= c.7579T= (p.Ser2527=) c.7513T= (p.Ser2505=) c.7576T= (p.Ser2526=) c.7573T= (p.Ser2525=) c.7519T= (p.Ser2507=) c.7489T= (p.Ser2497=) c.7444T= (p.Ser2482=) c.7039T= (p.Ser2347=) c.6397T= (p.Ser2133=) c.3907T= (p.Ser1303=) | |
10 | g.71800658C>A | CA377159846 | CDH23 | c.7385C>A (p.Ser2462Tyr) c.1318C>A (n.1318C>A) c.982C>A (n.982C>A) c.7400C>A (p.Ser2467Tyr) c.665C>A (p.Ser222Tyr) n.921C>A c.7580C>A (p.Ser2527Tyr) c.7514C>A (p.Ser2505Tyr) c.7577C>A (p.Ser2526Tyr) c.7574C>A (p.Ser2525Tyr) c.7520C>A (p.Ser2507Tyr) c.7490C>A (p.Ser2497Tyr) c.7445C>A (p.Ser2482Tyr) c.7040C>A (p.Ser2347Tyr) c.6398C>A (p.Ser2133Tyr) c.3908C>A (p.Ser1303Tyr) | dbSNP |
10 | g.71800658C= | CA1918879392 | CDH23 | c.7385C= (p.Ser2462=) c.1318C= (n.1318C=) c.982C= (n.982C=) c.7400C= (p.Ser2467=) c.665C= (p.Ser222=) n.921C= c.7580C= (p.Ser2527=) c.7514C= (p.Ser2505=) c.7577C= (p.Ser2526=) c.7574C= (p.Ser2525=) c.7520C= (p.Ser2507=) c.7490C= (p.Ser2497=) c.7445C= (p.Ser2482=) c.7040C= (p.Ser2347=) c.6398C= (p.Ser2133=) c.3908C= (p.Ser1303=) | |
10 | g.71800658C>G | CA377159847 | CDH23 | c.7385C>G (p.Ser2462Cys) c.1318C>G (n.1318C>G) c.982C>G (n.982C>G) c.7400C>G (p.Ser2467Cys) c.665C>G (p.Ser222Cys) n.921C>G c.7580C>G (p.Ser2527Cys) c.7514C>G (p.Ser2505Cys) c.7577C>G (p.Ser2526Cys) c.7574C>G (p.Ser2525Cys) c.7520C>G (p.Ser2507Cys) c.7490C>G (p.Ser2497Cys) c.7445C>G (p.Ser2482Cys) c.7040C>G (p.Ser2347Cys) c.6398C>G (p.Ser2133Cys) c.3908C>G (p.Ser1303Cys) | |
10 | g.71800658C>T | CA377159848 | CDH23 | c.7385C>T (p.Ser2462Phe) c.1318C>T (n.1318C>T) c.982C>T (n.982C>T) c.7400C>T (p.Ser2467Phe) c.665C>T (p.Ser222Phe) n.921C>T c.7580C>T (p.Ser2527Phe) c.7514C>T (p.Ser2505Phe) c.7577C>T (p.Ser2526Phe) c.7574C>T (p.Ser2525Phe) c.7520C>T (p.Ser2507Phe) c.7490C>T (p.Ser2497Phe) c.7445C>T (p.Ser2482Phe) c.7040C>T (p.Ser2347Phe) c.6398C>T (p.Ser2133Phe) c.3908C>T (p.Ser1303Phe) | gnomAD v4 |
10 | g.71800659T>A | CA470062248 | CDH23 | c.7386T>A (p.Ser2462=) c.1319T>A (n.1319T>A) c.983T>A (n.983T>A) c.7401T>A (p.Ser2467=) c.666T>A (p.Ser222=) n.922T>A c.7581T>A (p.Ser2527=) c.7515T>A (p.Ser2505=) c.7578T>A (p.Ser2526=) c.7575T>A (p.Ser2525=) c.7521T>A (p.Ser2507=) c.7491T>A (p.Ser2497=) c.7446T>A (p.Ser2482=) c.7041T>A (p.Ser2347=) c.6399T>A (p.Ser2133=) c.3909T>A (p.Ser1303=) | |
10 | g.71800659T>C | CA470062249 | CDH23 | c.7386T>C (p.Ser2462=) c.1319T>C (n.1319T>C) c.983T>C (n.983T>C) c.7401T>C (p.Ser2467=) c.666T>C (p.Ser222=) n.922T>C c.7581T>C (p.Ser2527=) c.7515T>C (p.Ser2505=) c.7578T>C (p.Ser2526=) c.7575T>C (p.Ser2525=) c.7521T>C (p.Ser2507=) c.7491T>C (p.Ser2497=) c.7446T>C (p.Ser2482=) c.7041T>C (p.Ser2347=) c.6399T>C (p.Ser2133=) c.3909T>C (p.Ser1303=) | |
10 | g.71800659T>G | CA470062250 | CDH23 | c.7386T>G (p.Ser2462=) c.1319T>G (n.1319T>G) c.983T>G (n.983T>G) c.7401T>G (p.Ser2467=) c.666T>G (p.Ser222=) n.922T>G c.7581T>G (p.Ser2527=) c.7515T>G (p.Ser2505=) c.7578T>G (p.Ser2526=) c.7575T>G (p.Ser2525=) c.7521T>G (p.Ser2507=) c.7491T>G (p.Ser2497=) c.7446T>G (p.Ser2482=) c.7041T>G (p.Ser2347=) c.6399T>G (p.Ser2133=) c.3909T>G (p.Ser1303=) | |
10 | g.71800660C>A | CA377159849 | CDH23 | c.7387C>A (p.Leu2463Met) c.1320C>A (n.1320C>A) c.984C>A (n.984C>A) c.7402C>A (p.Leu2468Met) c.667C>A (p.Leu223Met) n.923C>A c.7582C>A (p.Leu2528Met) c.7516C>A (p.Leu2506Met) c.7579C>A (p.Leu2527Met) c.7576C>A (p.Leu2526Met) c.7522C>A (p.Leu2508Met) c.7492C>A (p.Leu2498Met) c.7447C>A (p.Leu2483Met) c.7042C>A (p.Leu2348Met) c.6400C>A (p.Leu2134Met) c.3910C>A (p.Leu1304Met) | |
10 | g.71800660C>G | CA377159850 | CDH23 | c.7387C>G (p.Leu2463Val) c.1320C>G (n.1320C>G) c.984C>G (n.984C>G) c.7402C>G (p.Leu2468Val) c.667C>G (p.Leu223Val) n.923C>G c.7582C>G (p.Leu2528Val) c.7516C>G (p.Leu2506Val) c.7579C>G (p.Leu2527Val) c.7576C>G (p.Leu2526Val) c.7522C>G (p.Leu2508Val) c.7492C>G (p.Leu2498Val) c.7447C>G (p.Leu2483Val) c.7042C>G (p.Leu2348Val) c.6400C>G (p.Leu2134Val) c.3910C>G (p.Leu1304Val) | |
10 | g.71800660C>T | CA470062251 | CDH23 | c.7387C>T (p.Leu2463=) c.1320C>T (n.1320C>T) c.984C>T (n.984C>T) c.7402C>T (p.Leu2468=) c.667C>T (p.Leu223=) n.923C>T c.7582C>T (p.Leu2528=) c.7516C>T (p.Leu2506=) c.7579C>T (p.Leu2527=) c.7576C>T (p.Leu2526=) c.7522C>T (p.Leu2508=) c.7492C>T (p.Leu2498=) c.7447C>T (p.Leu2483=) c.7042C>T (p.Leu2348=) c.6400C>T (p.Leu2134=) c.3910C>T (p.Leu1304=) | |
10 | g.71800661T>A | CA377159851 | CDH23 | c.7388T>A (p.Leu2463Gln) c.1321T>A (n.1321T>A) c.985T>A (n.985T>A) c.7403T>A (p.Leu2468Gln) c.668T>A (p.Leu223Gln) n.924T>A c.7583T>A (p.Leu2528Gln) c.7517T>A (p.Leu2506Gln) c.7580T>A (p.Leu2527Gln) c.7577T>A (p.Leu2526Gln) c.7523T>A (p.Leu2508Gln) c.7493T>A (p.Leu2498Gln) c.7448T>A (p.Leu2483Gln) c.7043T>A (p.Leu2348Gln) c.6401T>A (p.Leu2134Gln) c.3911T>A (p.Leu1304Gln) | |
10 | g.71800661T>C | CA377159852 | CDH23 | c.7388T>C (p.Leu2463Pro) c.1321T>C (n.1321T>C) c.985T>C (n.985T>C) c.7403T>C (p.Leu2468Pro) c.668T>C (p.Leu223Pro) n.924T>C c.7583T>C (p.Leu2528Pro) c.7517T>C (p.Leu2506Pro) c.7580T>C (p.Leu2527Pro) c.7577T>C (p.Leu2526Pro) c.7523T>C (p.Leu2508Pro) c.7493T>C (p.Leu2498Pro) c.7448T>C (p.Leu2483Pro) c.7043T>C (p.Leu2348Pro) c.6401T>C (p.Leu2134Pro) c.3911T>C (p.Leu1304Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71800661T>G | CA377159853 | CDH23 | c.7388T>G (p.Leu2463Arg) c.1321T>G (n.1321T>G) c.985T>G (n.985T>G) c.7403T>G (p.Leu2468Arg) c.668T>G (p.Leu223Arg) n.924T>G c.7583T>G (p.Leu2528Arg) c.7517T>G (p.Leu2506Arg) c.7580T>G (p.Leu2527Arg) c.7577T>G (p.Leu2526Arg) c.7523T>G (p.Leu2508Arg) c.7493T>G (p.Leu2498Arg) c.7448T>G (p.Leu2483Arg) c.7043T>G (p.Leu2348Arg) c.6401T>G (p.Leu2134Arg) c.3911T>G (p.Leu1304Arg) | |
10 | g.71800661T= | CA1918879393 | CDH23 | c.7388T= (p.Leu2463=) c.1321T= (n.1321T=) c.985T= (n.985T=) c.7403T= (p.Leu2468=) c.668T= (p.Leu223=) n.924T= c.7583T= (p.Leu2528=) c.7517T= (p.Leu2506=) c.7580T= (p.Leu2527=) c.7577T= (p.Leu2526=) c.7523T= (p.Leu2508=) c.7493T= (p.Leu2498=) c.7448T= (p.Leu2483=) c.7043T= (p.Leu2348=) c.6401T= (p.Leu2134=) c.3911T= (p.Leu1304=) | |
10 | g.71800662G>A | CA470062252 | CDH23 | c.7389G>A (p.Leu2463=) c.1322G>A (n.1322G>A) c.986G>A (n.986G>A) c.7404G>A (p.Leu2468=) c.669G>A (p.Leu223=) n.925G>A c.7584G>A (p.Leu2528=) c.7518G>A (p.Leu2506=) c.7581G>A (p.Leu2527=) c.7578G>A (p.Leu2526=) c.7524G>A (p.Leu2508=) c.7494G>A (p.Leu2498=) c.7449G>A (p.Leu2483=) c.7044G>A (p.Leu2348=) c.6402G>A (p.Leu2134=) c.3912G>A (p.Leu1304=) | dbSNP |
10 | g.71800662G>C | CA470062253 | CDH23 | c.7389G>C (p.Leu2463=) c.1322G>C (n.1322G>C) c.986G>C (n.986G>C) c.7404G>C (p.Leu2468=) c.669G>C (p.Leu223=) n.925G>C c.7584G>C (p.Leu2528=) c.7518G>C (p.Leu2506=) c.7581G>C (p.Leu2527=) c.7578G>C (p.Leu2526=) c.7524G>C (p.Leu2508=) c.7494G>C (p.Leu2498=) c.7449G>C (p.Leu2483=) c.7044G>C (p.Leu2348=) c.6402G>C (p.Leu2134=) c.3912G>C (p.Leu1304=) | |
10 | g.71800662G= | CA1918879394 | CDH23 | c.7389G= (p.Leu2463=) c.1322G= (n.1322G=) c.986G= (n.986G=) c.7404G= (p.Leu2468=) c.669G= (p.Leu223=) n.925G= c.7584G= (p.Leu2528=) c.7518G= (p.Leu2506=) c.7581G= (p.Leu2527=) c.7578G= (p.Leu2526=) c.7524G= (p.Leu2508=) c.7494G= (p.Leu2498=) c.7449G= (p.Leu2483=) c.7044G= (p.Leu2348=) c.6402G= (p.Leu2134=) c.3912G= (p.Leu1304=) | |
10 | g.71800662G>T | CA470062254 | CDH23 | c.7389G>T (p.Leu2463=) c.1322G>T (n.1322G>T) c.986G>T (n.986G>T) c.7404G>T (p.Leu2468=) c.669G>T (p.Leu223=) n.925G>T c.7584G>T (p.Leu2528=) c.7518G>T (p.Leu2506=) c.7581G>T (p.Leu2527=) c.7578G>T (p.Leu2526=) c.7524G>T (p.Leu2508=) c.7494G>T (p.Leu2498=) c.7449G>T (p.Leu2483=) c.7044G>T (p.Leu2348=) c.6402G>T (p.Leu2134=) c.3912G>T (p.Leu1304=) | |
10 | g.71800664_71800668dup | CA2609590840 | CDH23 | c.7391_7395dup (p.Glu2466ThrfsTer10) c.1324_1328dup (n.1324_1328dup) c.988_992dup (n.988_992dup) c.7406_7410dup (p.Glu2471ThrfsTer10) c.671_675dup (p.Glu226ThrfsTer10) n.927_931dup c.7586_7590dup (p.Glu2531ThrfsTer10) c.7520_7524dup (p.Glu2509ThrfsTer10) c.7583_7587dup (p.Glu2530ThrfsTer10) c.7580_7584dup (p.Glu2529ThrfsTer10) c.7526_7530dup (p.Glu2511ThrfsTer10) c.7496_7500dup (p.Glu2501ThrfsTer10) c.7451_7455dup (p.Glu2486ThrfsTer10) c.7046_7050dup (p.Glu2351ThrfsTer10) c.6404_6408dup (p.Glu2137ThrfsTer10) c.3914_3918dup (p.Glu1307ThrfsTer10) | gnomAD v4 |
10 | g.71800663G>A | CA377159854 | CDH23 | c.7390G>A (p.Asp2464Asn) c.1323G>A (n.1323G>A) c.987G>A (n.987G>A) c.7405G>A (p.Asp2469Asn) c.670G>A (p.Asp224Asn) n.926G>A c.7585G>A (p.Asp2529Asn) c.7519G>A (p.Asp2507Asn) c.7582G>A (p.Asp2528Asn) c.7579G>A (p.Asp2527Asn) c.7525G>A (p.Asp2509Asn) c.7495G>A (p.Asp2499Asn) c.7450G>A (p.Asp2484Asn) c.7045G>A (p.Asp2349Asn) c.6403G>A (p.Asp2135Asn) c.3913G>A (p.Asp1305Asn) | gnomAD v4 |
10 | g.71800663G>C | CA377159855 | CDH23 | c.7390G>C (p.Asp2464His) c.1323G>C (n.1323G>C) c.987G>C (n.987G>C) c.7405G>C (p.Asp2469His) c.670G>C (p.Asp224His) n.926G>C c.7585G>C (p.Asp2529His) c.7519G>C (p.Asp2507His) c.7582G>C (p.Asp2528His) c.7579G>C (p.Asp2527His) c.7525G>C (p.Asp2509His) c.7495G>C (p.Asp2499His) c.7450G>C (p.Asp2484His) c.7045G>C (p.Asp2349His) c.6403G>C (p.Asp2135His) c.3913G>C (p.Asp1305His) | |
10 | g.71800663G>T | CA377159856 | CDH23 | c.7390G>T (p.Asp2464Tyr) c.1323G>T (n.1323G>T) c.987G>T (n.987G>T) c.7405G>T (p.Asp2469Tyr) c.670G>T (p.Asp224Tyr) n.926G>T c.7585G>T (p.Asp2529Tyr) c.7519G>T (p.Asp2507Tyr) c.7582G>T (p.Asp2528Tyr) c.7579G>T (p.Asp2527Tyr) c.7525G>T (p.Asp2509Tyr) c.7495G>T (p.Asp2499Tyr) c.7450G>T (p.Asp2484Tyr) c.7045G>T (p.Asp2349Tyr) c.6403G>T (p.Asp2135Tyr) c.3913G>T (p.Asp1305Tyr) | gnomAD v4 |
10 | g.71800664A>C | CA377159859 | CDH23 | c.7391A>C (p.Asp2464Ala) c.1324A>C (n.1324A>C) c.988A>C (n.988A>C) c.7406A>C (p.Asp2469Ala) c.671A>C (p.Asp224Ala) n.927A>C c.7586A>C (p.Asp2529Ala) c.7520A>C (p.Asp2507Ala) c.7583A>C (p.Asp2528Ala) c.7580A>C (p.Asp2527Ala) c.7526A>C (p.Asp2509Ala) c.7496A>C (p.Asp2499Ala) c.7451A>C (p.Asp2484Ala) c.7046A>C (p.Asp2349Ala) c.6404A>C (p.Asp2135Ala) c.3914A>C (p.Asp1305Ala) | |
10 | g.71800664A>G | CA377159858 | CDH23 | c.7391A>G (p.Asp2464Gly) c.1324A>G (n.1324A>G) c.988A>G (n.988A>G) c.7406A>G (p.Asp2469Gly) c.671A>G (p.Asp224Gly) n.927A>G c.7586A>G (p.Asp2529Gly) c.7520A>G (p.Asp2507Gly) c.7583A>G (p.Asp2528Gly) c.7580A>G (p.Asp2527Gly) c.7526A>G (p.Asp2509Gly) c.7496A>G (p.Asp2499Gly) c.7451A>G (p.Asp2484Gly) c.7046A>G (p.Asp2349Gly) c.6404A>G (p.Asp2135Gly) c.3914A>G (p.Asp1305Gly) | |
10 | g.71800664A>T | CA377159857 | CDH23 | c.7391A>T (p.Asp2464Val) c.1324A>T (n.1324A>T) c.988A>T (n.988A>T) c.7406A>T (p.Asp2469Val) c.671A>T (p.Asp224Val) n.927A>T c.7586A>T (p.Asp2529Val) c.7520A>T (p.Asp2507Val) c.7583A>T (p.Asp2528Val) c.7580A>T (p.Asp2527Val) c.7526A>T (p.Asp2509Val) c.7496A>T (p.Asp2499Val) c.7451A>T (p.Asp2484Val) c.7046A>T (p.Asp2349Val) c.6404A>T (p.Asp2135Val) c.3914A>T (p.Asp1305Val) | |
10 | g.71800665C>A | CA377159860 | CDH23 | c.7392C>A (p.Asp2464Glu) c.1325C>A (n.1325C>A) c.989C>A (n.989C>A) c.7407C>A (p.Asp2469Glu) c.672C>A (p.Asp224Glu) n.928C>A c.7587C>A (p.Asp2529Glu) c.7521C>A (p.Asp2507Glu) c.7584C>A (p.Asp2528Glu) c.7581C>A (p.Asp2527Glu) c.7527C>A (p.Asp2509Glu) c.7497C>A (p.Asp2499Glu) c.7452C>A (p.Asp2484Glu) c.7047C>A (p.Asp2349Glu) c.6405C>A (p.Asp2135Glu) c.3915C>A (p.Asp1305Glu) | |
10 | g.71800665C= | CA1918879395 | CDH23 | c.7392C= (p.Asp2464=) c.1325C= (n.1325C=) c.989C= (n.989C=) c.7407C= (p.Asp2469=) c.672C= (p.Asp224=) n.928C= c.7587C= (p.Asp2529=) c.7521C= (p.Asp2507=) c.7584C= (p.Asp2528=) c.7581C= (p.Asp2527=) c.7527C= (p.Asp2509=) c.7497C= (p.Asp2499=) c.7452C= (p.Asp2484=) c.7047C= (p.Asp2349=) c.6405C= (p.Asp2135=) c.3915C= (p.Asp1305=) | |
10 | g.71800665C>G | CA377159861 | CDH23 | c.7392C>G (p.Asp2464Glu) c.1325C>G (n.1325C>G) c.989C>G (n.989C>G) c.7407C>G (p.Asp2469Glu) c.672C>G (p.Asp224Glu) n.928C>G c.7587C>G (p.Asp2529Glu) c.7521C>G (p.Asp2507Glu) c.7584C>G (p.Asp2528Glu) c.7581C>G (p.Asp2527Glu) c.7527C>G (p.Asp2509Glu) c.7497C>G (p.Asp2499Glu) c.7452C>G (p.Asp2484Glu) c.7047C>G (p.Asp2349Glu) c.6405C>G (p.Asp2135Glu) c.3915C>G (p.Asp1305Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71800665C>T | CA470062255 | CDH23 | c.7392C>T (p.Asp2464=) c.1325C>T (n.1325C>T) c.989C>T (n.989C>T) c.7407C>T (p.Asp2469=) c.672C>T (p.Asp224=) n.928C>T c.7587C>T (p.Asp2529=) c.7521C>T (p.Asp2507=) c.7584C>T (p.Asp2528=) c.7581C>T (p.Asp2527=) c.7527C>T (p.Asp2509=) c.7497C>T (p.Asp2499=) c.7452C>T (p.Asp2484=) c.7047C>T (p.Asp2349=) c.6405C>T (p.Asp2135=) c.3915C>T (p.Asp1305=) | |
10 | g.71800666C>A | CA5546334 | CDH23 | c.7393C>A (p.Arg2465=) c.1326C>A (n.1326C>A) c.990C>A (n.990C>A) c.7408C>A (p.Arg2470=) c.673C>A (p.Arg225=) n.929C>A c.7588C>A (p.Arg2530=) c.7522C>A (p.Arg2508=) c.7585C>A (p.Arg2529=) c.7582C>A (p.Arg2528=) c.7528C>A (p.Arg2510=) c.7498C>A (p.Arg2500=) c.7453C>A (p.Arg2485=) c.7048C>A (p.Arg2350=) c.6406C>A (p.Arg2136=) c.3916C>A (p.Arg1306=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71800666C= | CA1918879396 | CDH23 | c.7393C= (p.Arg2465=) c.1326C= (n.1326C=) c.990C= (n.990C=) c.7408C= (p.Arg2470=) c.673C= (p.Arg225=) n.929C= c.7588C= (p.Arg2530=) c.7522C= (p.Arg2508=) c.7585C= (p.Arg2529=) c.7582C= (p.Arg2528=) c.7528C= (p.Arg2510=) c.7498C= (p.Arg2500=) c.7453C= (p.Arg2485=) c.7048C= (p.Arg2350=) c.6406C= (p.Arg2136=) c.3916C= (p.Arg1306=) | |
10 | g.71800666C>G | CA377159862 | CDH23 | c.7393C>G (p.Arg2465Gly) c.1326C>G (n.1326C>G) c.990C>G (n.990C>G) c.7408C>G (p.Arg2470Gly) c.673C>G (p.Arg225Gly) n.929C>G c.7588C>G (p.Arg2530Gly) c.7522C>G (p.Arg2508Gly) c.7585C>G (p.Arg2529Gly) c.7582C>G (p.Arg2528Gly) c.7528C>G (p.Arg2510Gly) c.7498C>G (p.Arg2500Gly) c.7453C>G (p.Arg2485Gly) c.7048C>G (p.Arg2350Gly) c.6406C>G (p.Arg2136Gly) c.3916C>G (p.Arg1306Gly) | gnomAD v4 |
10 | g.71800666C>T | CA377159863 | CDH23 | c.7393C>T (p.Arg2465Trp) c.1326C>T (n.1326C>T) c.990C>T (n.990C>T) c.7408C>T (p.Arg2470Trp) c.673C>T (p.Arg225Trp) n.929C>T c.7588C>T (p.Arg2530Trp) c.7522C>T (p.Arg2508Trp) c.7585C>T (p.Arg2529Trp) c.7582C>T (p.Arg2528Trp) c.7528C>T (p.Arg2510Trp) c.7498C>T (p.Arg2500Trp) c.7453C>T (p.Arg2485Trp) c.7048C>T (p.Arg2350Trp) c.6406C>T (p.Arg2136Trp) c.3916C>T (p.Arg1306Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71800667G>A | CA5546335 | CDH23 | c.7394G>A (p.Arg2465Gln) c.1327G>A (n.1327G>A) c.991G>A (n.991G>A) c.7409G>A (p.Arg2470Gln) c.674G>A (p.Arg225Gln) n.930G>A c.7589G>A (p.Arg2530Gln) c.7523G>A (p.Arg2508Gln) c.7586G>A (p.Arg2529Gln) c.7583G>A (p.Arg2528Gln) c.7529G>A (p.Arg2510Gln) c.7499G>A (p.Arg2500Gln) c.7454G>A (p.Arg2485Gln) c.7049G>A (p.Arg2350Gln) c.6407G>A (p.Arg2136Gln) c.3917G>A (p.Arg1306Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800667G>C | CA377159864 | CDH23 | c.7394G>C (p.Arg2465Pro) c.1327G>C (n.1327G>C) c.991G>C (n.991G>C) c.7409G>C (p.Arg2470Pro) c.674G>C (p.Arg225Pro) n.930G>C c.7589G>C (p.Arg2530Pro) c.7523G>C (p.Arg2508Pro) c.7586G>C (p.Arg2529Pro) c.7583G>C (p.Arg2528Pro) c.7529G>C (p.Arg2510Pro) c.7499G>C (p.Arg2500Pro) c.7454G>C (p.Arg2485Pro) c.7049G>C (p.Arg2350Pro) c.6407G>C (p.Arg2136Pro) c.3917G>C (p.Arg1306Pro) | dbSNP |
10 | g.71800667G= | CA1918879397 | CDH23 | c.7394G= (p.Arg2465=) c.1327G= (n.1327G=) c.991G= (n.991G=) c.7409G= (p.Arg2470=) c.674G= (p.Arg225=) n.930G= c.7589G= (p.Arg2530=) c.7523G= (p.Arg2508=) c.7586G= (p.Arg2529=) c.7583G= (p.Arg2528=) c.7529G= (p.Arg2510=) c.7499G= (p.Arg2500=) c.7454G= (p.Arg2485=) c.7049G= (p.Arg2350=) c.6407G= (p.Arg2136=) c.3917G= (p.Arg1306=) | |
10 | g.71800667G>T | CA377159865 | CDH23 | c.7394G>T (p.Arg2465Leu) c.1327G>T (n.1327G>T) c.991G>T (n.991G>T) c.7409G>T (p.Arg2470Leu) c.674G>T (p.Arg225Leu) n.930G>T c.7589G>T (p.Arg2530Leu) c.7523G>T (p.Arg2508Leu) c.7586G>T (p.Arg2529Leu) c.7583G>T (p.Arg2528Leu) c.7529G>T (p.Arg2510Leu) c.7499G>T (p.Arg2500Leu) c.7454G>T (p.Arg2485Leu) c.7049G>T (p.Arg2350Leu) c.6407G>T (p.Arg2136Leu) c.3917G>T (p.Arg1306Leu) | |
10 | g.71800668G>A | CA5546336 | CDH23 | c.7395G>A (p.Arg2465=) c.1328G>A (n.1328G>A) c.992G>A (n.992G>A) c.7410G>A (p.Arg2470=) c.675G>A (p.Arg225=) n.931G>A c.7590G>A (p.Arg2530=) c.7524G>A (p.Arg2508=) c.7587G>A (p.Arg2529=) c.7584G>A (p.Arg2528=) c.7530G>A (p.Arg2510=) c.7500G>A (p.Arg2500=) c.7455G>A (p.Arg2485=) c.7050G>A (p.Arg2350=) c.6408G>A (p.Arg2136=) c.3918G>A (p.Arg1306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800668G>C | CA470062256 | CDH23 | c.7395G>C (p.Arg2465=) c.1328G>C (n.1328G>C) c.992G>C (n.992G>C) c.7410G>C (p.Arg2470=) c.675G>C (p.Arg225=) n.931G>C c.7590G>C (p.Arg2530=) c.7524G>C (p.Arg2508=) c.7587G>C (p.Arg2529=) c.7584G>C (p.Arg2528=) c.7530G>C (p.Arg2510=) c.7500G>C (p.Arg2500=) c.7455G>C (p.Arg2485=) c.7050G>C (p.Arg2350=) c.6408G>C (p.Arg2136=) c.3918G>C (p.Arg1306=) | |
10 | g.71800668G= | CA1918879398 | CDH23 | c.7395G= (p.Arg2465=) c.1328G= (n.1328G=) c.992G= (n.992G=) c.7410G= (p.Arg2470=) c.675G= (p.Arg225=) n.931G= c.7590G= (p.Arg2530=) c.7524G= (p.Arg2508=) c.7587G= (p.Arg2529=) c.7584G= (p.Arg2528=) c.7530G= (p.Arg2510=) c.7500G= (p.Arg2500=) c.7455G= (p.Arg2485=) c.7050G= (p.Arg2350=) c.6408G= (p.Arg2136=) c.3918G= (p.Arg1306=) | |
10 | g.71800668G>T | CA470062257 | CDH23 | c.7395G>T (p.Arg2465=) c.1328G>T (n.1328G>T) c.992G>T (n.992G>T) c.7410G>T (p.Arg2470=) c.675G>T (p.Arg225=) n.931G>T c.7590G>T (p.Arg2530=) c.7524G>T (p.Arg2508=) c.7587G>T (p.Arg2529=) c.7584G>T (p.Arg2528=) c.7530G>T (p.Arg2510=) c.7500G>T (p.Arg2500=) c.7455G>T (p.Arg2485=) c.7050G>T (p.Arg2350=) c.6408G>T (p.Arg2136=) c.3918G>T (p.Arg1306=) | |
10 | g.71800669G>A | CA377159866 | CDH23 | c.7396G>A (p.Glu2466Lys) c.1329G>A (n.1329G>A) c.993G>A (n.993G>A) c.7411G>A (p.Glu2471Lys) c.676G>A (p.Glu226Lys) n.932G>A c.7591G>A (p.Glu2531Lys) c.7525G>A (p.Glu2509Lys) c.7588G>A (p.Glu2530Lys) c.7585G>A (p.Glu2529Lys) c.7531G>A (p.Glu2511Lys) c.7501G>A (p.Glu2501Lys) c.7456G>A (p.Glu2486Lys) c.7051G>A (p.Glu2351Lys) c.6409G>A (p.Glu2137Lys) c.3919G>A (p.Glu1307Lys) | gnomAD v4 |
10 | g.71800669G>C | CA377159867 | CDH23 | c.7396G>C (p.Glu2466Gln) c.1329G>C (n.1329G>C) c.993G>C (n.993G>C) c.7411G>C (p.Glu2471Gln) c.676G>C (p.Glu226Gln) n.932G>C c.7591G>C (p.Glu2531Gln) c.7525G>C (p.Glu2509Gln) c.7588G>C (p.Glu2530Gln) c.7585G>C (p.Glu2529Gln) c.7531G>C (p.Glu2511Gln) c.7501G>C (p.Glu2501Gln) c.7456G>C (p.Glu2486Gln) c.7051G>C (p.Glu2351Gln) c.6409G>C (p.Glu2137Gln) c.3919G>C (p.Glu1307Gln) | |
10 | g.71800669G>T | CA377159868 | CDH23 | c.7396G>T (p.Glu2466Ter) c.1329G>T (n.1329G>T) c.993G>T (n.993G>T) c.7411G>T (p.Glu2471Ter) c.676G>T (p.Glu226Ter) n.932G>T c.7591G>T (p.Glu2531Ter) c.7525G>T (p.Glu2509Ter) c.7588G>T (p.Glu2530Ter) c.7585G>T (p.Glu2529Ter) c.7531G>T (p.Glu2511Ter) c.7501G>T (p.Glu2501Ter) c.7456G>T (p.Glu2486Ter) c.7051G>T (p.Glu2351Ter) c.6409G>T (p.Glu2137Ter) c.3919G>T (p.Glu1307Ter) | |
10 | g.71800669_71800672delinsGAGA | CA1918879399 | CDH23 | c.7396_7399delinsGAGA (p.Glu2466=) c.1329_1332delinsGAGA (n.1329_1332delinsGAGA) c.993_996delinsGAGA (n.993_996delinsGAGA) c.7411_7414delinsGAGA (p.Glu2471=) c.676_679delinsGAGA (p.Glu226=) n.932_935delinsGAGA c.7591_7594delinsGAGA (p.Glu2531=) c.7525_7528delinsGAGA (p.Glu2509=) c.7588_7591delinsGAGA (p.Glu2530=) c.7585_7588delinsGAGA (p.Glu2529=) c.7531_7534delinsGAGA (p.Glu2511=) c.7501_7504delinsGAGA (p.Glu2501=) c.7456_7459delinsGAGA (p.Glu2486=) c.7051_7054delinsGAGA (p.Glu2351=) c.6409_6412delinsGAGA (p.Glu2137=) c.3919_3922delinsGAGA (p.Glu1307=) | |
10 | g.71800670A>C | CA377159870 | CDH23 | c.7397A>C (p.Glu2466Ala) c.1330A>C (n.1330A>C) c.994A>C (n.994A>C) c.7412A>C (p.Glu2471Ala) c.677A>C (p.Glu226Ala) n.933A>C c.7592A>C (p.Glu2531Ala) c.7526A>C (p.Glu2509Ala) c.7589A>C (p.Glu2530Ala) c.7586A>C (p.Glu2529Ala) c.7532A>C (p.Glu2511Ala) c.7502A>C (p.Glu2501Ala) c.7457A>C (p.Glu2486Ala) c.7052A>C (p.Glu2351Ala) c.6410A>C (p.Glu2137Ala) c.3920A>C (p.Glu1307Ala) | |
10 | g.71800670A>G | CA377159871 | CDH23 | c.7397A>G (p.Glu2466Gly) c.1330A>G (n.1330A>G) c.994A>G (n.994A>G) c.7412A>G (p.Glu2471Gly) c.677A>G (p.Glu226Gly) n.933A>G c.7592A>G (p.Glu2531Gly) c.7526A>G (p.Glu2509Gly) c.7589A>G (p.Glu2530Gly) c.7586A>G (p.Glu2529Gly) c.7532A>G (p.Glu2511Gly) c.7502A>G (p.Glu2501Gly) c.7457A>G (p.Glu2486Gly) c.7052A>G (p.Glu2351Gly) c.6410A>G (p.Glu2137Gly) c.3920A>G (p.Glu1307Gly) | |
10 | g.71800670A>T | CA377159869 | CDH23 | c.7397A>T (p.Glu2466Val) c.1330A>T (n.1330A>T) c.994A>T (n.994A>T) c.7412A>T (p.Glu2471Val) c.677A>T (p.Glu226Val) n.933A>T c.7592A>T (p.Glu2531Val) c.7526A>T (p.Glu2509Val) c.7589A>T (p.Glu2530Val) c.7586A>T (p.Glu2529Val) c.7532A>T (p.Glu2511Val) c.7502A>T (p.Glu2501Val) c.7457A>T (p.Glu2486Val) c.7052A>T (p.Glu2351Val) c.6410A>T (p.Glu2137Val) c.3920A>T (p.Glu1307Val) | |
10 | g.71800675_71800677del | CA5546337 | CDH23 | c.7402_7404del (p.Lys2468del) c.1335_1337del (n.1335_1337del) c.999_1001del (n.999_1001del) c.7417_7419del (p.Lys2473del) c.682_684del (p.Lys228del) n.938_940del c.7597_7599del (p.Lys2533del) c.7531_7533del (p.Lys2511del) c.7594_7596del (p.Lys2532del) c.7591_7593del (p.Lys2531del) c.7537_7539del (p.Lys2513del) c.7507_7509del (p.Lys2503del) c.7462_7464del (p.Lys2488del) c.7057_7059del (p.Lys2353del) c.6415_6417del (p.Lys2139del) c.3925_3927del (p.Lys1309del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71800671G>A | CA470062258 | CDH23 | c.7398G>A (p.Glu2466=) c.1331G>A (n.1331G>A) c.995G>A (n.995G>A) c.7413G>A (p.Glu2471=) c.678G>A (p.Glu226=) n.934G>A c.7593G>A (p.Glu2531=) c.7527G>A (p.Glu2509=) c.7590G>A (p.Glu2530=) c.7587G>A (p.Glu2529=) c.7533G>A (p.Glu2511=) c.7503G>A (p.Glu2501=) c.7458G>A (p.Glu2486=) c.7053G>A (p.Glu2351=) c.6411G>A (p.Glu2137=) c.3921G>A (p.Glu1307=) | ClinVar dbSNP |
10 | g.71800671G>C | CA377159873 | CDH23 | c.7398G>C (p.Glu2466Asp) c.1331G>C (n.1331G>C) c.995G>C (n.995G>C) c.7413G>C (p.Glu2471Asp) c.678G>C (p.Glu226Asp) n.934G>C c.7593G>C (p.Glu2531Asp) c.7527G>C (p.Glu2509Asp) c.7590G>C (p.Glu2530Asp) c.7587G>C (p.Glu2529Asp) c.7533G>C (p.Glu2511Asp) c.7503G>C (p.Glu2501Asp) c.7458G>C (p.Glu2486Asp) c.7053G>C (p.Glu2351Asp) c.6411G>C (p.Glu2137Asp) c.3921G>C (p.Glu1307Asp) | |
10 | g.71800671G>T | CA377159872 | CDH23 | c.7398G>T (p.Glu2466Asp) c.1331G>T (n.1331G>T) c.995G>T (n.995G>T) c.7413G>T (p.Glu2471Asp) c.678G>T (p.Glu226Asp) n.934G>T c.7593G>T (p.Glu2531Asp) c.7527G>T (p.Glu2509Asp) c.7590G>T (p.Glu2530Asp) c.7587G>T (p.Glu2529Asp) c.7533G>T (p.Glu2511Asp) c.7503G>T (p.Glu2501Asp) c.7458G>T (p.Glu2486Asp) c.7053G>T (p.Glu2351Asp) c.6411G>T (p.Glu2137Asp) c.3921G>T (p.Glu1307Asp) | |
10 | g.71800672A= | CA1918879400 | CDH23 | c.7399A= (p.Lys2467=) c.1332A= (n.1332A=) c.996A= (n.996A=) c.7414A= (p.Lys2472=) c.679A= (p.Lys227=) n.935A= c.7594A= (p.Lys2532=) c.7528A= (p.Lys2510=) c.7591A= (p.Lys2531=) c.7588A= (p.Lys2530=) c.7534A= (p.Lys2512=) c.7504A= (p.Lys2502=) c.7459A= (p.Lys2487=) c.7054A= (p.Lys2352=) c.6412A= (p.Lys2138=) c.3922A= (p.Lys1308=) | |
10 | g.71800672A>C | CA377159874 | CDH23 | c.7399A>C (p.Lys2467Gln) c.1332A>C (n.1332A>C) c.996A>C (n.996A>C) c.7414A>C (p.Lys2472Gln) c.679A>C (p.Lys227Gln) n.935A>C c.7594A>C (p.Lys2532Gln) c.7528A>C (p.Lys2510Gln) c.7591A>C (p.Lys2531Gln) c.7588A>C (p.Lys2530Gln) c.7534A>C (p.Lys2512Gln) c.7504A>C (p.Lys2502Gln) c.7459A>C (p.Lys2487Gln) c.7054A>C (p.Lys2352Gln) c.6412A>C (p.Lys2138Gln) c.3922A>C (p.Lys1308Gln) | |
10 | g.71800672A>G | CA5546338 | CDH23 | c.7399A>G (p.Lys2467Glu) c.1332A>G (n.1332A>G) c.996A>G (n.996A>G) c.7414A>G (p.Lys2472Glu) c.679A>G (p.Lys227Glu) n.935A>G c.7594A>G (p.Lys2532Glu) c.7528A>G (p.Lys2510Glu) c.7591A>G (p.Lys2531Glu) c.7588A>G (p.Lys2530Glu) c.7534A>G (p.Lys2512Glu) c.7504A>G (p.Lys2502Glu) c.7459A>G (p.Lys2487Glu) c.7054A>G (p.Lys2352Glu) c.6412A>G (p.Lys2138Glu) c.3922A>G (p.Lys1308Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800672A>T | CA377159875 | CDH23 | c.7399A>T (p.Lys2467Ter) c.1332A>T (n.1332A>T) c.996A>T (n.996A>T) c.7414A>T (p.Lys2472Ter) c.679A>T (p.Lys227Ter) n.935A>T c.7594A>T (p.Lys2532Ter) c.7528A>T (p.Lys2510Ter) c.7591A>T (p.Lys2531Ter) c.7588A>T (p.Lys2530Ter) c.7534A>T (p.Lys2512Ter) c.7504A>T (p.Lys2502Ter) c.7459A>T (p.Lys2487Ter) c.7054A>T (p.Lys2352Ter) c.6412A>T (p.Lys2138Ter) c.3922A>T (p.Lys1308Ter) | |
10 | g.71800673A>C | CA377159876 | CDH23 | c.7400A>C (p.Lys2467Thr) c.1333A>C (n.1333A>C) c.997A>C (n.997A>C) c.7415A>C (p.Lys2472Thr) c.680A>C (p.Lys227Thr) n.936A>C c.7595A>C (p.Lys2532Thr) c.7529A>C (p.Lys2510Thr) c.7592A>C (p.Lys2531Thr) c.7589A>C (p.Lys2530Thr) c.7535A>C (p.Lys2512Thr) c.7505A>C (p.Lys2502Thr) c.7460A>C (p.Lys2487Thr) c.7055A>C (p.Lys2352Thr) c.6413A>C (p.Lys2138Thr) c.3923A>C (p.Lys1308Thr) | |
10 | g.71800673A>G | CA377159877 | CDH23 | c.7400A>G (p.Lys2467Arg) c.1333A>G (n.1333A>G) c.997A>G (n.997A>G) c.7415A>G (p.Lys2472Arg) c.680A>G (p.Lys227Arg) n.936A>G c.7595A>G (p.Lys2532Arg) c.7529A>G (p.Lys2510Arg) c.7592A>G (p.Lys2531Arg) c.7589A>G (p.Lys2530Arg) c.7535A>G (p.Lys2512Arg) c.7505A>G (p.Lys2502Arg) c.7460A>G (p.Lys2487Arg) c.7055A>G (p.Lys2352Arg) c.6413A>G (p.Lys2138Arg) c.3923A>G (p.Lys1308Arg) | |
10 | g.71800673A>T | CA377159878 | CDH23 | c.7400A>T (p.Lys2467Met) c.1333A>T (n.1333A>T) c.997A>T (n.997A>T) c.7415A>T (p.Lys2472Met) c.680A>T (p.Lys227Met) n.936A>T c.7595A>T (p.Lys2532Met) c.7529A>T (p.Lys2510Met) c.7592A>T (p.Lys2531Met) c.7589A>T (p.Lys2530Met) c.7535A>T (p.Lys2512Met) c.7505A>T (p.Lys2502Met) c.7460A>T (p.Lys2487Met) c.7055A>T (p.Lys2352Met) c.6413A>T (p.Lys2138Met) c.3923A>T (p.Lys1308Met) | |
10 | g.71800674G>A | CA470062259 | CDH23 | c.7401G>A (p.Lys2467=) c.1334G>A (n.1334G>A) c.998G>A (n.998G>A) c.7416G>A (p.Lys2472=) c.681G>A (p.Lys227=) n.937G>A c.7596G>A (p.Lys2532=) c.7530G>A (p.Lys2510=) c.7593G>A (p.Lys2531=) c.7590G>A (p.Lys2530=) c.7536G>A (p.Lys2512=) c.7506G>A (p.Lys2502=) c.7461G>A (p.Lys2487=) c.7056G>A (p.Lys2352=) c.6414G>A (p.Lys2138=) c.3924G>A (p.Lys1308=) | |
10 | g.71800674G>C | CA377159879 | CDH23 | c.7401G>C (p.Lys2467Asn) c.1334G>C (n.1334G>C) c.998G>C (n.998G>C) c.7416G>C (p.Lys2472Asn) c.681G>C (p.Lys227Asn) n.937G>C c.7596G>C (p.Lys2532Asn) c.7530G>C (p.Lys2510Asn) c.7593G>C (p.Lys2531Asn) c.7590G>C (p.Lys2530Asn) c.7536G>C (p.Lys2512Asn) c.7506G>C (p.Lys2502Asn) c.7461G>C (p.Lys2487Asn) c.7056G>C (p.Lys2352Asn) c.6414G>C (p.Lys2138Asn) c.3924G>C (p.Lys1308Asn) | |
10 | g.71800674G>T | CA377159880 | CDH23 | c.7401G>T (p.Lys2467Asn) c.1334G>T (n.1334G>T) c.998G>T (n.998G>T) c.7416G>T (p.Lys2472Asn) c.681G>T (p.Lys227Asn) n.937G>T c.7596G>T (p.Lys2532Asn) c.7530G>T (p.Lys2510Asn) c.7593G>T (p.Lys2531Asn) c.7590G>T (p.Lys2530Asn) c.7536G>T (p.Lys2512Asn) c.7506G>T (p.Lys2502Asn) c.7461G>T (p.Lys2487Asn) c.7056G>T (p.Lys2352Asn) c.6414G>T (p.Lys2138Asn) c.3924G>T (p.Lys1308Asn) | |
10 | g.71800675A>C | CA377159881 | CDH23 | c.7402A>C (p.Lys2468Gln) c.1335A>C (n.1335A>C) c.999A>C (n.999A>C) c.7417A>C (p.Lys2473Gln) c.682A>C (p.Lys228Gln) n.938A>C c.7597A>C (p.Lys2533Gln) c.7531A>C (p.Lys2511Gln) c.7594A>C (p.Lys2532Gln) c.7591A>C (p.Lys2531Gln) c.7537A>C (p.Lys2513Gln) c.7507A>C (p.Lys2503Gln) c.7462A>C (p.Lys2488Gln) c.7057A>C (p.Lys2353Gln) c.6415A>C (p.Lys2139Gln) c.3925A>C (p.Lys1309Gln) | |
10 | g.71800675A>G | CA377159882 | CDH23 | c.7402A>G (p.Lys2468Glu) c.1335A>G (n.1335A>G) c.999A>G (n.999A>G) c.7417A>G (p.Lys2473Glu) c.682A>G (p.Lys228Glu) n.938A>G c.7597A>G (p.Lys2533Glu) c.7531A>G (p.Lys2511Glu) c.7594A>G (p.Lys2532Glu) c.7591A>G (p.Lys2531Glu) c.7537A>G (p.Lys2513Glu) c.7507A>G (p.Lys2503Glu) c.7462A>G (p.Lys2488Glu) c.7057A>G (p.Lys2353Glu) c.6415A>G (p.Lys2139Glu) c.3925A>G (p.Lys1309Glu) | |
10 | g.71800675A>T | CA377159883 | CDH23 | c.7402A>T (p.Lys2468Ter) c.1335A>T (n.1335A>T) c.999A>T (n.999A>T) c.7417A>T (p.Lys2473Ter) c.682A>T (p.Lys228Ter) n.938A>T c.7597A>T (p.Lys2533Ter) c.7531A>T (p.Lys2511Ter) c.7594A>T (p.Lys2532Ter) c.7591A>T (p.Lys2531Ter) c.7537A>T (p.Lys2513Ter) c.7507A>T (p.Lys2503Ter) c.7462A>T (p.Lys2488Ter) c.7057A>T (p.Lys2353Ter) c.6415A>T (p.Lys2139Ter) c.3925A>T (p.Lys1309Ter) | |
10 | g.71800676A>C | CA377159886 | CDH23 | c.7403A>C (p.Lys2468Thr) c.1336A>C (n.1336A>C) c.1000A>C (n.1000A>C) c.7418A>C (p.Lys2473Thr) c.683A>C (p.Lys228Thr) n.939A>C c.7598A>C (p.Lys2533Thr) c.7532A>C (p.Lys2511Thr) c.7595A>C (p.Lys2532Thr) c.7592A>C (p.Lys2531Thr) c.7538A>C (p.Lys2513Thr) c.7508A>C (p.Lys2503Thr) c.7463A>C (p.Lys2488Thr) c.7058A>C (p.Lys2353Thr) c.6416A>C (p.Lys2139Thr) c.3926A>C (p.Lys1309Thr) | |
10 | g.71800676A>G | CA377159885 | CDH23 | c.7403A>G (p.Lys2468Arg) c.1336A>G (n.1336A>G) c.1000A>G (n.1000A>G) c.7418A>G (p.Lys2473Arg) c.683A>G (p.Lys228Arg) n.939A>G c.7598A>G (p.Lys2533Arg) c.7532A>G (p.Lys2511Arg) c.7595A>G (p.Lys2532Arg) c.7592A>G (p.Lys2531Arg) c.7538A>G (p.Lys2513Arg) c.7508A>G (p.Lys2503Arg) c.7463A>G (p.Lys2488Arg) c.7058A>G (p.Lys2353Arg) c.6416A>G (p.Lys2139Arg) c.3926A>G (p.Lys1309Arg) | |
10 | g.71800676A>T | CA377159884 | CDH23 | c.7403A>T (p.Lys2468Met) c.1336A>T (n.1336A>T) c.1000A>T (n.1000A>T) c.7418A>T (p.Lys2473Met) c.683A>T (p.Lys228Met) n.939A>T c.7598A>T (p.Lys2533Met) c.7532A>T (p.Lys2511Met) c.7595A>T (p.Lys2532Met) c.7592A>T (p.Lys2531Met) c.7538A>T (p.Lys2513Met) c.7508A>T (p.Lys2503Met) c.7463A>T (p.Lys2488Met) c.7058A>T (p.Lys2353Met) c.6416A>T (p.Lys2139Met) c.3926A>T (p.Lys1309Met) | |
10 | g.71800677G>A | CA5546339 | CDH23 | c.7404G>A (p.Lys2468=) c.1337G>A (n.1337G>A) c.1001G>A (n.1001G>A) c.7419G>A (p.Lys2473=) c.684G>A (p.Lys228=) n.940G>A c.7599G>A (p.Lys2533=) c.7533G>A (p.Lys2511=) c.7596G>A (p.Lys2532=) c.7593G>A (p.Lys2531=) c.7539G>A (p.Lys2513=) c.7509G>A (p.Lys2503=) c.7464G>A (p.Lys2488=) c.7059G>A (p.Lys2353=) c.6417G>A (p.Lys2139=) c.3927G>A (p.Lys1309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800677G>C | CA377159887 | CDH23 | c.7404G>C (p.Lys2468Asn) c.1337G>C (n.1337G>C) c.1001G>C (n.1001G>C) c.7419G>C (p.Lys2473Asn) c.684G>C (p.Lys228Asn) n.940G>C c.7599G>C (p.Lys2533Asn) c.7533G>C (p.Lys2511Asn) c.7596G>C (p.Lys2532Asn) c.7593G>C (p.Lys2531Asn) c.7539G>C (p.Lys2513Asn) c.7509G>C (p.Lys2503Asn) c.7464G>C (p.Lys2488Asn) c.7059G>C (p.Lys2353Asn) c.6417G>C (p.Lys2139Asn) c.3927G>C (p.Lys1309Asn) | |
10 | g.71800677G= | CA1918879401 | CDH23 | c.7404G= (p.Lys2468=) c.1337G= (n.1337G=) c.1001G= (n.1001G=) c.7419G= (p.Lys2473=) c.684G= (p.Lys228=) n.940G= c.7599G= (p.Lys2533=) c.7533G= (p.Lys2511=) c.7596G= (p.Lys2532=) c.7593G= (p.Lys2531=) c.7539G= (p.Lys2513=) c.7509G= (p.Lys2503=) c.7464G= (p.Lys2488=) c.7059G= (p.Lys2353=) c.6417G= (p.Lys2139=) c.3927G= (p.Lys1309=) | |
10 | g.71800677G>T | CA377159888 | CDH23 | c.7404G>T (p.Lys2468Asn) c.1337G>T (n.1337G>T) c.1001G>T (n.1001G>T) c.7419G>T (p.Lys2473Asn) c.684G>T (p.Lys228Asn) n.940G>T c.7599G>T (p.Lys2533Asn) c.7533G>T (p.Lys2511Asn) c.7596G>T (p.Lys2532Asn) c.7593G>T (p.Lys2531Asn) c.7539G>T (p.Lys2513Asn) c.7509G>T (p.Lys2503Asn) c.7464G>T (p.Lys2488Asn) c.7059G>T (p.Lys2353Asn) c.6417G>T (p.Lys2139Asn) c.3927G>T (p.Lys1309Asn) | |
10 | g.71800678G>A | CA5546340 | CDH23 | c.7405G>A (p.Asp2469Asn) c.1338G>A (n.1338G>A) c.1002G>A (n.1002G>A) c.7420G>A (p.Asp2474Asn) c.685G>A (p.Asp229Asn) n.941G>A c.7600G>A (p.Asp2534Asn) c.7534G>A (p.Asp2512Asn) c.7597G>A (p.Asp2533Asn) c.7594G>A (p.Asp2532Asn) c.7540G>A (p.Asp2514Asn) c.7510G>A (p.Asp2504Asn) c.7465G>A (p.Asp2489Asn) c.7060G>A (p.Asp2354Asn) c.6418G>A (p.Asp2140Asn) c.3928G>A (p.Asp1310Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800678G>C | CA377159889 | CDH23 | c.7405G>C (p.Asp2469His) c.1338G>C (n.1338G>C) c.1002G>C (n.1002G>C) c.7420G>C (p.Asp2474His) c.685G>C (p.Asp229His) n.941G>C c.7600G>C (p.Asp2534His) c.7534G>C (p.Asp2512His) c.7597G>C (p.Asp2533His) c.7594G>C (p.Asp2532His) c.7540G>C (p.Asp2514His) c.7510G>C (p.Asp2504His) c.7465G>C (p.Asp2489His) c.7060G>C (p.Asp2354His) c.6418G>C (p.Asp2140His) c.3928G>C (p.Asp1310His) | gnomAD v4 |
10 | g.71800678G= | CA1918879402 | CDH23 | c.7405G= (p.Asp2469=) c.1338G= (n.1338G=) c.1002G= (n.1002G=) c.7420G= (p.Asp2474=) c.685G= (p.Asp229=) n.941G= c.7600G= (p.Asp2534=) c.7534G= (p.Asp2512=) c.7597G= (p.Asp2533=) c.7594G= (p.Asp2532=) c.7540G= (p.Asp2514=) c.7510G= (p.Asp2504=) c.7465G= (p.Asp2489=) c.7060G= (p.Asp2354=) c.6418G= (p.Asp2140=) c.3928G= (p.Asp1310=) | |
10 | g.71800678G>T | CA377159890 | CDH23 | c.7405G>T (p.Asp2469Tyr) c.1338G>T (n.1338G>T) c.1002G>T (n.1002G>T) c.7420G>T (p.Asp2474Tyr) c.685G>T (p.Asp229Tyr) n.941G>T c.7600G>T (p.Asp2534Tyr) c.7534G>T (p.Asp2512Tyr) c.7597G>T (p.Asp2533Tyr) c.7594G>T (p.Asp2532Tyr) c.7540G>T (p.Asp2514Tyr) c.7510G>T (p.Asp2504Tyr) c.7465G>T (p.Asp2489Tyr) c.7060G>T (p.Asp2354Tyr) c.6418G>T (p.Asp2140Tyr) c.3928G>T (p.Asp1310Tyr) | |
10 | g.71800679A>C | CA377159891 | CDH23 | c.7406A>C (p.Asp2469Ala) c.1339A>C (n.1339A>C) c.1003A>C (n.1003A>C) c.7421A>C (p.Asp2474Ala) c.686A>C (p.Asp229Ala) n.942A>C c.7601A>C (p.Asp2534Ala) c.7535A>C (p.Asp2512Ala) c.7598A>C (p.Asp2533Ala) c.7595A>C (p.Asp2532Ala) c.7541A>C (p.Asp2514Ala) c.7511A>C (p.Asp2504Ala) c.7466A>C (p.Asp2489Ala) c.7061A>C (p.Asp2354Ala) c.6419A>C (p.Asp2140Ala) c.3929A>C (p.Asp1310Ala) | |
10 | g.71800679A>G | CA377159892 | CDH23 | c.7406A>G (p.Asp2469Gly) c.1339A>G (n.1339A>G) c.1003A>G (n.1003A>G) c.7421A>G (p.Asp2474Gly) c.686A>G (p.Asp229Gly) n.942A>G c.7601A>G (p.Asp2534Gly) c.7535A>G (p.Asp2512Gly) c.7598A>G (p.Asp2533Gly) c.7595A>G (p.Asp2532Gly) c.7541A>G (p.Asp2514Gly) c.7511A>G (p.Asp2504Gly) c.7466A>G (p.Asp2489Gly) c.7061A>G (p.Asp2354Gly) c.6419A>G (p.Asp2140Gly) c.3929A>G (p.Asp1310Gly) | ClinVar dbSNP |
10 | g.71800679A>T | CA377159893 | CDH23 | c.7406A>T (p.Asp2469Val) c.1339A>T (n.1339A>T) c.1003A>T (n.1003A>T) c.7421A>T (p.Asp2474Val) c.686A>T (p.Asp229Val) n.942A>T c.7601A>T (p.Asp2534Val) c.7535A>T (p.Asp2512Val) c.7598A>T (p.Asp2533Val) c.7595A>T (p.Asp2532Val) c.7541A>T (p.Asp2514Val) c.7511A>T (p.Asp2504Val) c.7466A>T (p.Asp2489Val) c.7061A>T (p.Asp2354Val) c.6419A>T (p.Asp2140Val) c.3929A>T (p.Asp1310Val) | |
10 | g.71800681_71800683dup | CA2609590871 | CDH23 | c.7408_7410dup (p.His2470_Tyr2471insHis) c.1341_1343dup (n.1341_1343dup) c.1005_1007dup (n.1005_1007dup) c.7423_7425dup (p.His2475_Tyr2476insHis) c.688_690dup (p.His230_Tyr231insHis) n.944_946dup c.7603_7605dup (p.His2535_Tyr2536insHis) c.7537_7539dup (p.His2513_Tyr2514insHis) c.7600_7602dup (p.His2534_Tyr2535insHis) c.7597_7599dup (p.His2533_Tyr2534insHis) c.7543_7545dup (p.His2515_Tyr2516insHis) c.7513_7515dup (p.His2505_Tyr2506insHis) c.7468_7470dup (p.His2490_Tyr2491insHis) c.7063_7065dup (p.His2355_Tyr2356insHis) c.6421_6423dup (p.His2141_Tyr2142insHis) c.3931_3933dup (p.His1311_Tyr1312insHis) | gnomAD v4 |
10 | g.71800680C>A | CA377159894 | CDH23 | c.7407C>A (p.Asp2469Glu) c.1340C>A (n.1340C>A) c.1004C>A (n.1004C>A) c.7422C>A (p.Asp2474Glu) c.687C>A (p.Asp229Glu) n.943C>A c.7602C>A (p.Asp2534Glu) c.7536C>A (p.Asp2512Glu) c.7599C>A (p.Asp2533Glu) c.7596C>A (p.Asp2532Glu) c.7542C>A (p.Asp2514Glu) c.7512C>A (p.Asp2504Glu) c.7467C>A (p.Asp2489Glu) c.7062C>A (p.Asp2354Glu) c.6420C>A (p.Asp2140Glu) c.3930C>A (p.Asp1310Glu) | |
10 | g.71800680C= | CA1918879403 | CDH23 | c.7407C= (p.Asp2469=) c.1340C= (n.1340C=) c.1004C= (n.1004C=) c.7422C= (p.Asp2474=) c.687C= (p.Asp229=) n.943C= c.7602C= (p.Asp2534=) c.7536C= (p.Asp2512=) c.7599C= (p.Asp2533=) c.7596C= (p.Asp2532=) c.7542C= (p.Asp2514=) c.7512C= (p.Asp2504=) c.7467C= (p.Asp2489=) c.7062C= (p.Asp2354=) c.6420C= (p.Asp2140=) c.3930C= (p.Asp1310=) | |
10 | g.71800680C>G | CA377159895 | CDH23 | c.7407C>G (p.Asp2469Glu) c.1340C>G (n.1340C>G) c.1004C>G (n.1004C>G) c.7422C>G (p.Asp2474Glu) c.687C>G (p.Asp229Glu) n.943C>G c.7602C>G (p.Asp2534Glu) c.7536C>G (p.Asp2512Glu) c.7599C>G (p.Asp2533Glu) c.7596C>G (p.Asp2532Glu) c.7542C>G (p.Asp2514Glu) c.7512C>G (p.Asp2504Glu) c.7467C>G (p.Asp2489Glu) c.7062C>G (p.Asp2354Glu) c.6420C>G (p.Asp2140Glu) c.3930C>G (p.Asp1310Glu) | |
10 | g.71800680C>T | CA5546341 | CDH23 | c.7407C>T (p.Asp2469=) c.1340C>T (n.1340C>T) c.1004C>T (n.1004C>T) c.7422C>T (p.Asp2474=) c.687C>T (p.Asp229=) n.943C>T c.7602C>T (p.Asp2534=) c.7536C>T (p.Asp2512=) c.7599C>T (p.Asp2533=) c.7596C>T (p.Asp2532=) c.7542C>T (p.Asp2514=) c.7512C>T (p.Asp2504=) c.7467C>T (p.Asp2489=) c.7062C>T (p.Asp2354=) c.6420C>T (p.Asp2140=) c.3930C>T (p.Asp1310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800681C>A | CA377159897 | CDH23 | c.7408C>A (p.His2470Asn) c.1341C>A (n.1341C>A) c.1005C>A (n.1005C>A) c.7423C>A (p.His2475Asn) c.688C>A (p.His230Asn) n.944C>A c.7603C>A (p.His2535Asn) c.7537C>A (p.His2513Asn) c.7600C>A (p.His2534Asn) c.7597C>A (p.His2533Asn) c.7543C>A (p.His2515Asn) c.7513C>A (p.His2505Asn) c.7468C>A (p.His2490Asn) c.7063C>A (p.His2355Asn) c.6421C>A (p.His2141Asn) c.3931C>A (p.His1311Asn) | |
10 | g.71800681C= | CA1918879404 | CDH23 | c.7408C= (p.His2470=) c.1341C= (n.1341C=) c.1005C= (n.1005C=) c.7423C= (p.His2475=) c.688C= (p.His230=) n.944C= c.7603C= (p.His2535=) c.7537C= (p.His2513=) c.7600C= (p.His2534=) c.7597C= (p.His2533=) c.7543C= (p.His2515=) c.7513C= (p.His2505=) c.7468C= (p.His2490=) c.7063C= (p.His2355=) c.6421C= (p.His2141=) c.3931C= (p.His1311=) | |
10 | g.71800681C>G | CA377159896 | CDH23 | c.7408C>G (p.His2470Asp) c.1341C>G (n.1341C>G) c.1005C>G (n.1005C>G) c.7423C>G (p.His2475Asp) c.688C>G (p.His230Asp) n.944C>G c.7603C>G (p.His2535Asp) c.7537C>G (p.His2513Asp) c.7600C>G (p.His2534Asp) c.7597C>G (p.His2533Asp) c.7543C>G (p.His2515Asp) c.7513C>G (p.His2505Asp) c.7468C>G (p.His2490Asp) c.7063C>G (p.His2355Asp) c.6421C>G (p.His2141Asp) c.3931C>G (p.His1311Asp) | |
10 | g.71800681C>T | CA5546342 | CDH23 | c.7408C>T (p.His2470Tyr) c.1341C>T (n.1341C>T) c.1005C>T (n.1005C>T) c.7423C>T (p.His2475Tyr) c.688C>T (p.His230Tyr) n.944C>T c.7603C>T (p.His2535Tyr) c.7537C>T (p.His2513Tyr) c.7600C>T (p.His2534Tyr) c.7597C>T (p.His2533Tyr) c.7543C>T (p.His2515Tyr) c.7513C>T (p.His2505Tyr) c.7468C>T (p.His2490Tyr) c.7063C>T (p.His2355Tyr) c.6421C>T (p.His2141Tyr) c.3931C>T (p.His1311Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71800682A= | CA1918879405 | CDH23 | c.7409A= (p.His2470=) c.1342A= (n.1342A=) c.1006A= (n.1006A=) c.7424A= (p.His2475=) c.689A= (p.His230=) n.945A= c.7604A= (p.His2535=) c.7538A= (p.His2513=) c.7601A= (p.His2534=) c.7598A= (p.His2533=) c.7544A= (p.His2515=) c.7514A= (p.His2505=) c.7469A= (p.His2490=) c.7064A= (p.His2355=) c.6422A= (p.His2141=) c.3932A= (p.His1311=) | |
10 | g.71800682A>C | CA377159898 | CDH23 | c.7409A>C (p.His2470Pro) c.1342A>C (n.1342A>C) c.1006A>C (n.1006A>C) c.7424A>C (p.His2475Pro) c.689A>C (p.His230Pro) n.945A>C c.7604A>C (p.His2535Pro) c.7538A>C (p.His2513Pro) c.7601A>C (p.His2534Pro) c.7598A>C (p.His2533Pro) c.7544A>C (p.His2515Pro) c.7514A>C (p.His2505Pro) c.7469A>C (p.His2490Pro) c.7064A>C (p.His2355Pro) c.6422A>C (p.His2141Pro) c.3932A>C (p.His1311Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71800682A>G | CA377159899 | CDH23 | c.7409A>G (p.His2470Arg) c.1342A>G (n.1342A>G) c.1006A>G (n.1006A>G) c.7424A>G (p.His2475Arg) c.689A>G (p.His230Arg) n.945A>G c.7604A>G (p.His2535Arg) c.7538A>G (p.His2513Arg) c.7601A>G (p.His2534Arg) c.7598A>G (p.His2533Arg) c.7544A>G (p.His2515Arg) c.7514A>G (p.His2505Arg) c.7469A>G (p.His2490Arg) c.7064A>G (p.His2355Arg) c.6422A>G (p.His2141Arg) c.3932A>G (p.His1311Arg) | |
10 | g.71800682A>T | CA377159900 | CDH23 | c.7409A>T (p.His2470Leu) c.1342A>T (n.1342A>T) c.1006A>T (n.1006A>T) c.7424A>T (p.His2475Leu) c.689A>T (p.His230Leu) n.945A>T c.7604A>T (p.His2535Leu) c.7538A>T (p.His2513Leu) c.7601A>T (p.His2534Leu) c.7598A>T (p.His2533Leu) c.7544A>T (p.His2515Leu) c.7514A>T (p.His2505Leu) c.7469A>T (p.His2490Leu) c.7064A>T (p.His2355Leu) c.6422A>T (p.His2141Leu) c.3932A>T (p.His1311Leu) | |
10 | g.71800683C>A | CA377159901 | CDH23 | c.7410C>A (p.His2470Gln) c.1343C>A (n.1343C>A) c.1007C>A (n.1007C>A) c.7425C>A (p.His2475Gln) c.690C>A (p.His230Gln) n.946C>A c.7605C>A (p.His2535Gln) c.7539C>A (p.His2513Gln) c.7602C>A (p.His2534Gln) c.7599C>A (p.His2533Gln) c.7545C>A (p.His2515Gln) c.7515C>A (p.His2505Gln) c.7470C>A (p.His2490Gln) c.7065C>A (p.His2355Gln) c.6423C>A (p.His2141Gln) c.3933C>A (p.His1311Gln) | |
10 | g.71800683C= | CA1918879406 | CDH23 | c.7410C= (p.His2470=) c.1343C= (n.1343C=) c.1007C= (n.1007C=) c.7425C= (p.His2475=) c.690C= (p.His230=) n.946C= c.7605C= (p.His2535=) c.7539C= (p.His2513=) c.7602C= (p.His2534=) c.7599C= (p.His2533=) c.7545C= (p.His2515=) c.7515C= (p.His2505=) c.7470C= (p.His2490=) c.7065C= (p.His2355=) c.6423C= (p.His2141=) c.3933C= (p.His1311=) | |
10 | g.71800683C>G | CA377159902 | CDH23 | c.7410C>G (p.His2470Gln) c.1343C>G (n.1343C>G) c.1007C>G (n.1007C>G) c.7425C>G (p.His2475Gln) c.690C>G (p.His230Gln) n.946C>G c.7605C>G (p.His2535Gln) c.7539C>G (p.His2513Gln) c.7602C>G (p.His2534Gln) c.7599C>G (p.His2533Gln) c.7545C>G (p.His2515Gln) c.7515C>G (p.His2505Gln) c.7470C>G (p.His2490Gln) c.7065C>G (p.His2355Gln) c.6423C>G (p.His2141Gln) c.3933C>G (p.His1311Gln) | |
10 | g.71800683C>T | CA470062261 | CDH23 | c.7410C>T (p.His2470=) c.1343C>T (n.1343C>T) c.1007C>T (n.1007C>T) c.7425C>T (p.His2475=) c.690C>T (p.His230=) n.946C>T c.7605C>T (p.His2535=) c.7539C>T (p.His2513=) c.7602C>T (p.His2534=) c.7599C>T (p.His2533=) c.7545C>T (p.His2515=) c.7515C>T (p.His2505=) c.7470C>T (p.His2490=) c.7065C>T (p.His2355=) c.6423C>T (p.His2141=) c.3933C>T (p.His1311=) | dbSNP |
10 | g.71800684T>A | CA377159903 | CDH23 | c.7411T>A (p.Tyr2471Asn) c.1344T>A (n.1344T>A) c.1008T>A (n.1008T>A) c.7426T>A (p.Tyr2476Asn) c.691T>A (p.Tyr231Asn) n.947T>A c.7606T>A (p.Tyr2536Asn) c.7540T>A (p.Tyr2514Asn) c.7603T>A (p.Tyr2535Asn) c.7600T>A (p.Tyr2534Asn) c.7546T>A (p.Tyr2516Asn) c.7516T>A (p.Tyr2506Asn) c.7471T>A (p.Tyr2491Asn) c.7066T>A (p.Tyr2356Asn) c.6424T>A (p.Tyr2142Asn) c.3934T>A (p.Tyr1312Asn) | |
10 | g.71800684T>C | CA377159904 | CDH23 | c.7411T>C (p.Tyr2471His) c.1344T>C (n.1344T>C) c.1008T>C (n.1008T>C) c.7426T>C (p.Tyr2476His) c.691T>C (p.Tyr231His) n.947T>C c.7606T>C (p.Tyr2536His) c.7540T>C (p.Tyr2514His) c.7603T>C (p.Tyr2535His) c.7600T>C (p.Tyr2534His) c.7546T>C (p.Tyr2516His) c.7516T>C (p.Tyr2506His) c.7471T>C (p.Tyr2491His) c.7066T>C (p.Tyr2356His) c.6424T>C (p.Tyr2142His) c.3934T>C (p.Tyr1312His) | COSMIC |
10 | g.71800684T>G | CA377159905 | CDH23 | c.7411T>G (p.Tyr2471Asp) c.1344T>G (n.1344T>G) c.1008T>G (n.1008T>G) c.7426T>G (p.Tyr2476Asp) c.691T>G (p.Tyr231Asp) n.947T>G c.7606T>G (p.Tyr2536Asp) c.7540T>G (p.Tyr2514Asp) c.7603T>G (p.Tyr2535Asp) c.7600T>G (p.Tyr2534Asp) c.7546T>G (p.Tyr2516Asp) c.7516T>G (p.Tyr2506Asp) c.7471T>G (p.Tyr2491Asp) c.7066T>G (p.Tyr2356Asp) c.6424T>G (p.Tyr2142Asp) c.3934T>G (p.Tyr1312Asp) | |
10 | g.71800685A>C | CA377159906 | CDH23 | c.7412A>C (p.Tyr2471Ser) c.1345A>C (n.1345A>C) c.1009A>C (n.1009A>C) c.7427A>C (p.Tyr2476Ser) c.692A>C (p.Tyr231Ser) n.948A>C c.7607A>C (p.Tyr2536Ser) c.7541A>C (p.Tyr2514Ser) c.7604A>C (p.Tyr2535Ser) c.7601A>C (p.Tyr2534Ser) c.7547A>C (p.Tyr2516Ser) c.7517A>C (p.Tyr2506Ser) c.7472A>C (p.Tyr2491Ser) c.7067A>C (p.Tyr2356Ser) c.6425A>C (p.Tyr2142Ser) c.3935A>C (p.Tyr1312Ser) | |
10 | g.71800685A>G | CA377159907 | CDH23 | c.7412A>G (p.Tyr2471Cys) c.1345A>G (n.1345A>G) c.1009A>G (n.1009A>G) c.7427A>G (p.Tyr2476Cys) c.692A>G (p.Tyr231Cys) n.948A>G c.7607A>G (p.Tyr2536Cys) c.7541A>G (p.Tyr2514Cys) c.7604A>G (p.Tyr2535Cys) c.7601A>G (p.Tyr2534Cys) c.7547A>G (p.Tyr2516Cys) c.7517A>G (p.Tyr2506Cys) c.7472A>G (p.Tyr2491Cys) c.7067A>G (p.Tyr2356Cys) c.6425A>G (p.Tyr2142Cys) c.3935A>G (p.Tyr1312Cys) | gnomAD v4 |
10 | g.71800685A>T | CA377159908 | CDH23 | c.7412A>T (p.Tyr2471Phe) c.1345A>T (n.1345A>T) c.1009A>T (n.1009A>T) c.7427A>T (p.Tyr2476Phe) c.692A>T (p.Tyr231Phe) n.948A>T c.7607A>T (p.Tyr2536Phe) c.7541A>T (p.Tyr2514Phe) c.7604A>T (p.Tyr2535Phe) c.7601A>T (p.Tyr2534Phe) c.7547A>T (p.Tyr2516Phe) c.7517A>T (p.Tyr2506Phe) c.7472A>T (p.Tyr2491Phe) c.7067A>T (p.Tyr2356Phe) c.6425A>T (p.Tyr2142Phe) c.3935A>T (p.Tyr1312Phe) | |
10 | g.71800686T>A | CA377159909 | CDH23 | c.7413T>A (p.Tyr2471Ter) c.1346T>A (n.1346T>A) c.1010T>A (n.1010T>A) c.7428T>A (p.Tyr2476Ter) c.693T>A (p.Tyr231Ter) n.949T>A c.7608T>A (p.Tyr2536Ter) c.7542T>A (p.Tyr2514Ter) c.7605T>A (p.Tyr2535Ter) c.7602T>A (p.Tyr2534Ter) c.7548T>A (p.Tyr2516Ter) c.7518T>A (p.Tyr2506Ter) c.7473T>A (p.Tyr2491Ter) c.7068T>A (p.Tyr2356Ter) c.6426T>A (p.Tyr2142Ter) c.3936T>A (p.Tyr1312Ter) | |
10 | g.71800686T>C | CA470062262 | CDH23 | c.7413T>C (p.Tyr2471=) c.1346T>C (n.1346T>C) c.1010T>C (n.1010T>C) c.7428T>C (p.Tyr2476=) c.693T>C (p.Tyr231=) n.949T>C c.7608T>C (p.Tyr2536=) c.7542T>C (p.Tyr2514=) c.7605T>C (p.Tyr2535=) c.7602T>C (p.Tyr2534=) c.7548T>C (p.Tyr2516=) c.7518T>C (p.Tyr2506=) c.7473T>C (p.Tyr2491=) c.7068T>C (p.Tyr2356=) c.6426T>C (p.Tyr2142=) c.3936T>C (p.Tyr1312=) | gnomAD v4 |
10 | g.71800686T>G | CA377159910 | CDH23 | c.7413T>G (p.Tyr2471Ter) c.1346T>G (n.1346T>G) c.1010T>G (n.1010T>G) c.7428T>G (p.Tyr2476Ter) c.693T>G (p.Tyr231Ter) n.949T>G c.7608T>G (p.Tyr2536Ter) c.7542T>G (p.Tyr2514Ter) c.7605T>G (p.Tyr2535Ter) c.7602T>G (p.Tyr2534Ter) c.7548T>G (p.Tyr2516Ter) c.7518T>G (p.Tyr2506Ter) c.7473T>G (p.Tyr2491Ter) c.7068T>G (p.Tyr2356Ter) c.6426T>G (p.Tyr2142Ter) c.3936T>G (p.Tyr1312Ter) | |
10 | g.71800687A>C | CA377159913 | CDH23 | c.7414A>C (p.Ile2472Leu) c.1347A>C (n.1347A>C) c.1011A>C (n.1011A>C) c.7429A>C (p.Ile2477Leu) c.694A>C (p.Ile232Leu) n.950A>C c.7609A>C (p.Ile2537Leu) c.7543A>C (p.Ile2515Leu) c.7606A>C (p.Ile2536Leu) c.7603A>C (p.Ile2535Leu) c.7549A>C (p.Ile2517Leu) c.7519A>C (p.Ile2507Leu) c.7474A>C (p.Ile2492Leu) c.7069A>C (p.Ile2357Leu) c.6427A>C (p.Ile2143Leu) c.3937A>C (p.Ile1313Leu) | |
10 | g.71800687A>G | CA377159911 | CDH23 | c.7414A>G (p.Ile2472Val) c.1347A>G (n.1347A>G) c.1011A>G (n.1011A>G) c.7429A>G (p.Ile2477Val) c.694A>G (p.Ile232Val) n.950A>G c.7609A>G (p.Ile2537Val) c.7543A>G (p.Ile2515Val) c.7606A>G (p.Ile2536Val) c.7603A>G (p.Ile2535Val) c.7549A>G (p.Ile2517Val) c.7519A>G (p.Ile2507Val) c.7474A>G (p.Ile2492Val) c.7069A>G (p.Ile2357Val) c.6427A>G (p.Ile2143Val) c.3937A>G (p.Ile1313Val) | |
10 | g.71800687A>T | CA377159912 | CDH23 | c.7414A>T (p.Ile2472Phe) c.1347A>T (n.1347A>T) c.1011A>T (n.1011A>T) c.7429A>T (p.Ile2477Phe) c.694A>T (p.Ile232Phe) n.950A>T c.7609A>T (p.Ile2537Phe) c.7543A>T (p.Ile2515Phe) c.7606A>T (p.Ile2536Phe) c.7603A>T (p.Ile2535Phe) c.7549A>T (p.Ile2517Phe) c.7519A>T (p.Ile2507Phe) c.7474A>T (p.Ile2492Phe) c.7069A>T (p.Ile2357Phe) c.6427A>T (p.Ile2143Phe) c.3937A>T (p.Ile1313Phe) | |
10 | g.71800688T>A | CA377159914 | CDH23 | c.7415T>A (p.Ile2472Asn) c.1348T>A (n.1348T>A) c.1012T>A (n.1012T>A) c.7430T>A (p.Ile2477Asn) c.695T>A (p.Ile232Asn) n.951T>A c.7610T>A (p.Ile2537Asn) c.7544T>A (p.Ile2515Asn) c.7607T>A (p.Ile2536Asn) c.7604T>A (p.Ile2535Asn) c.7550T>A (p.Ile2517Asn) c.7520T>A (p.Ile2507Asn) c.7475T>A (p.Ile2492Asn) c.7070T>A (p.Ile2357Asn) c.6428T>A (p.Ile2143Asn) c.3938T>A (p.Ile1313Asn) | gnomAD v4 |
10 | g.71800688T>C | CA377159915 | CDH23 | c.7415T>C (p.Ile2472Thr) c.1348T>C (n.1348T>C) c.1012T>C (n.1012T>C) c.7430T>C (p.Ile2477Thr) c.695T>C (p.Ile232Thr) n.951T>C c.7610T>C (p.Ile2537Thr) c.7544T>C (p.Ile2515Thr) c.7607T>C (p.Ile2536Thr) c.7604T>C (p.Ile2535Thr) c.7550T>C (p.Ile2517Thr) c.7520T>C (p.Ile2507Thr) c.7475T>C (p.Ile2492Thr) c.7070T>C (p.Ile2357Thr) c.6428T>C (p.Ile2143Thr) c.3938T>C (p.Ile1313Thr) | gnomAD v4 |
10 | g.71800688T>G | CA377159916 | CDH23 | c.7415T>G (p.Ile2472Ser) c.1348T>G (n.1348T>G) c.1012T>G (n.1012T>G) c.7430T>G (p.Ile2477Ser) c.695T>G (p.Ile232Ser) n.951T>G c.7610T>G (p.Ile2537Ser) c.7544T>G (p.Ile2515Ser) c.7607T>G (p.Ile2536Ser) c.7604T>G (p.Ile2535Ser) c.7550T>G (p.Ile2517Ser) c.7520T>G (p.Ile2507Ser) c.7475T>G (p.Ile2492Ser) c.7070T>G (p.Ile2357Ser) c.6428T>G (p.Ile2143Ser) c.3938T>G (p.Ile1313Ser) | |
10 | g.71800689C>A | CA470062263 | CDH23 | c.7416C>A (p.Ile2472=) c.1349C>A (n.1349C>A) c.1013C>A (n.1013C>A) c.7431C>A (p.Ile2477=) c.696C>A (p.Ile232=) n.952C>A c.7611C>A (p.Ile2537=) c.7545C>A (p.Ile2515=) c.7608C>A (p.Ile2536=) c.7605C>A (p.Ile2535=) c.7551C>A (p.Ile2517=) c.7521C>A (p.Ile2507=) c.7476C>A (p.Ile2492=) c.7071C>A (p.Ile2357=) c.6429C>A (p.Ile2143=) c.3939C>A (p.Ile1313=) | ClinVar |
10 | g.71800689C>G | CA377159917 | CDH23 | c.7416C>G (p.Ile2472Met) c.1349C>G (n.1349C>G) c.1013C>G (n.1013C>G) c.7431C>G (p.Ile2477Met) c.696C>G (p.Ile232Met) n.952C>G c.7611C>G (p.Ile2537Met) c.7545C>G (p.Ile2515Met) c.7608C>G (p.Ile2536Met) c.7605C>G (p.Ile2535Met) c.7551C>G (p.Ile2517Met) c.7521C>G (p.Ile2507Met) c.7476C>G (p.Ile2492Met) c.7071C>G (p.Ile2357Met) c.6429C>G (p.Ile2143Met) c.3939C>G (p.Ile1313Met) | gnomAD v4 |
10 | g.71800689C>T | CA470062264 | CDH23 | c.7416C>T (p.Ile2472=) c.1349C>T (n.1349C>T) c.1013C>T (n.1013C>T) c.7431C>T (p.Ile2477=) c.696C>T (p.Ile232=) n.952C>T c.7611C>T (p.Ile2537=) c.7545C>T (p.Ile2515=) c.7608C>T (p.Ile2536=) c.7605C>T (p.Ile2535=) c.7551C>T (p.Ile2517=) c.7521C>T (p.Ile2507=) c.7476C>T (p.Ile2492=) c.7071C>T (p.Ile2357=) c.6429C>T (p.Ile2143=) c.3939C>T (p.Ile1313=) | |
10 | g.71800690C>A | CA377159918 | CDH23 | c.7417C>A (p.Leu2473Met) c.1350C>A (n.1350C>A) c.1014C>A (n.1014C>A) c.7432C>A (p.Leu2478Met) c.697C>A (p.Leu233Met) n.953C>A c.7612C>A (p.Leu2538Met) c.7546C>A (p.Leu2516Met) c.7609C>A (p.Leu2537Met) c.7606C>A (p.Leu2536Met) c.7552C>A (p.Leu2518Met) c.7522C>A (p.Leu2508Met) c.7477C>A (p.Leu2493Met) c.7072C>A (p.Leu2358Met) c.6430C>A (p.Leu2144Met) c.3940C>A (p.Leu1314Met) | |
10 | g.71800690C= | CA1918879407 | CDH23 | c.7417C= (p.Leu2473=) c.1350C= (n.1350C=) c.1014C= (n.1014C=) c.7432C= (p.Leu2478=) c.697C= (p.Leu233=) n.953C= c.7612C= (p.Leu2538=) c.7546C= (p.Leu2516=) c.7609C= (p.Leu2537=) c.7606C= (p.Leu2536=) c.7552C= (p.Leu2518=) c.7522C= (p.Leu2508=) c.7477C= (p.Leu2493=) c.7072C= (p.Leu2358=) c.6430C= (p.Leu2144=) c.3940C= (p.Leu1314=) | |
10 | g.71800690C>G | CA377159919 | CDH23 | c.7417C>G (p.Leu2473Val) c.1350C>G (n.1350C>G) c.1014C>G (n.1014C>G) c.7432C>G (p.Leu2478Val) c.697C>G (p.Leu233Val) n.953C>G c.7612C>G (p.Leu2538Val) c.7546C>G (p.Leu2516Val) c.7609C>G (p.Leu2537Val) c.7606C>G (p.Leu2536Val) c.7552C>G (p.Leu2518Val) c.7522C>G (p.Leu2508Val) c.7477C>G (p.Leu2493Val) c.7072C>G (p.Leu2358Val) c.6430C>G (p.Leu2144Val) c.3940C>G (p.Leu1314Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71800690C>T | CA470062265 | CDH23 | c.7417C>T (p.Leu2473=) c.1350C>T (n.1350C>T) c.1014C>T (n.1014C>T) c.7432C>T (p.Leu2478=) c.697C>T (p.Leu233=) n.953C>T c.7612C>T (p.Leu2538=) c.7546C>T (p.Leu2516=) c.7609C>T (p.Leu2537=) c.7606C>T (p.Leu2536=) c.7552C>T (p.Leu2518=) c.7522C>T (p.Leu2508=) c.7477C>T (p.Leu2493=) c.7072C>T (p.Leu2358=) c.6430C>T (p.Leu2144=) c.3940C>T (p.Leu1314=) | gnomAD v4 |
10 | g.71800691T>A | CA377159920 | CDH23 | c.7418T>A (p.Leu2473Gln) c.1351T>A (n.1351T>A) c.1015T>A (n.1015T>A) c.7433T>A (p.Leu2478Gln) c.698T>A (p.Leu233Gln) n.954T>A c.7613T>A (p.Leu2538Gln) c.7547T>A (p.Leu2516Gln) c.7610T>A (p.Leu2537Gln) c.7607T>A (p.Leu2536Gln) c.7553T>A (p.Leu2518Gln) c.7523T>A (p.Leu2508Gln) c.7478T>A (p.Leu2493Gln) c.7073T>A (p.Leu2358Gln) c.6431T>A (p.Leu2144Gln) c.3941T>A (p.Leu1314Gln) | |
10 | g.71800691T>C | CA377159921 | CDH23 | c.7418T>C (p.Leu2473Pro) c.1351T>C (n.1351T>C) c.1015T>C (n.1015T>C) c.7433T>C (p.Leu2478Pro) c.698T>C (p.Leu233Pro) n.954T>C c.7613T>C (p.Leu2538Pro) c.7547T>C (p.Leu2516Pro) c.7610T>C (p.Leu2537Pro) c.7607T>C (p.Leu2536Pro) c.7553T>C (p.Leu2518Pro) c.7523T>C (p.Leu2508Pro) c.7478T>C (p.Leu2493Pro) c.7073T>C (p.Leu2358Pro) c.6431T>C (p.Leu2144Pro) c.3941T>C (p.Leu1314Pro) | dbSNP |
10 | g.71800691T>G | CA377159922 | CDH23 | c.7418T>G (p.Leu2473Arg) c.1351T>G (n.1351T>G) c.1015T>G (n.1015T>G) c.7433T>G (p.Leu2478Arg) c.698T>G (p.Leu233Arg) n.954T>G c.7613T>G (p.Leu2538Arg) c.7547T>G (p.Leu2516Arg) c.7610T>G (p.Leu2537Arg) c.7607T>G (p.Leu2536Arg) c.7553T>G (p.Leu2518Arg) c.7523T>G (p.Leu2508Arg) c.7478T>G (p.Leu2493Arg) c.7073T>G (p.Leu2358Arg) c.6431T>G (p.Leu2144Arg) c.3941T>G (p.Leu1314Arg) | |
10 | g.71800691T= | CA1918879408 | CDH23 | c.7418T= (p.Leu2473=) c.1351T= (n.1351T=) c.1015T= (n.1015T=) c.7433T= (p.Leu2478=) c.698T= (p.Leu233=) n.954T= c.7613T= (p.Leu2538=) c.7547T= (p.Leu2516=) c.7610T= (p.Leu2537=) c.7607T= (p.Leu2536=) c.7553T= (p.Leu2518=) c.7523T= (p.Leu2508=) c.7478T= (p.Leu2493=) c.7073T= (p.Leu2358=) c.6431T= (p.Leu2144=) c.3941T= (p.Leu1314=) | |
10 | g.71800692G>A | CA470062268 | CDH23 | c.7419G>A (p.Leu2473=) c.1352G>A (n.1352G>A) c.1016G>A (n.1016G>A) c.7434G>A (p.Leu2478=) c.699G>A (p.Leu233=) n.955G>A c.7614G>A (p.Leu2538=) c.7548G>A (p.Leu2516=) c.7611G>A (p.Leu2537=) c.7608G>A (p.Leu2536=) c.7554G>A (p.Leu2518=) c.7524G>A (p.Leu2508=) c.7479G>A (p.Leu2493=) c.7074G>A (p.Leu2358=) c.6432G>A (p.Leu2144=) c.3942G>A (p.Leu1314=) | |
10 | g.71800692G>C | CA470062266 | CDH23 | c.7419G>C (p.Leu2473=) c.1352G>C (n.1352G>C) c.1016G>C (n.1016G>C) c.7434G>C (p.Leu2478=) c.699G>C (p.Leu233=) n.955G>C c.7614G>C (p.Leu2538=) c.7548G>C (p.Leu2516=) c.7611G>C (p.Leu2537=) c.7608G>C (p.Leu2536=) c.7554G>C (p.Leu2518=) c.7524G>C (p.Leu2508=) c.7479G>C (p.Leu2493=) c.7074G>C (p.Leu2358=) c.6432G>C (p.Leu2144=) c.3942G>C (p.Leu1314=) | |
10 | g.71800692G>T | CA470062267 | CDH23 | c.7419G>T (p.Leu2473=) c.1352G>T (n.1352G>T) c.1016G>T (n.1016G>T) c.7434G>T (p.Leu2478=) c.699G>T (p.Leu233=) n.955G>T c.7614G>T (p.Leu2538=) c.7548G>T (p.Leu2516=) c.7611G>T (p.Leu2537=) c.7608G>T (p.Leu2536=) c.7554G>T (p.Leu2518=) c.7524G>T (p.Leu2508=) c.7479G>T (p.Leu2493=) c.7074G>T (p.Leu2358=) c.6432G>T (p.Leu2144=) c.3942G>T (p.Leu1314=) | |
10 | g.71800693A>C | CA377159923 | CDH23 | c.7420A>C (p.Thr2474Pro) c.1353A>C (n.1353A>C) c.1017A>C (n.1017A>C) c.7435A>C (p.Thr2479Pro) c.700A>C (p.Thr234Pro) n.956A>C c.7615A>C (p.Thr2539Pro) c.7549A>C (p.Thr2517Pro) c.7612A>C (p.Thr2538Pro) c.7609A>C (p.Thr2537Pro) c.7555A>C (p.Thr2519Pro) c.7525A>C (p.Thr2509Pro) c.7480A>C (p.Thr2494Pro) c.7075A>C (p.Thr2359Pro) c.6433A>C (p.Thr2145Pro) c.3943A>C (p.Thr1315Pro) | |
10 | g.71800693A>G | CA377159924 | CDH23 | c.7420A>G (p.Thr2474Ala) c.1353A>G (n.1353A>G) c.1017A>G (n.1017A>G) c.7435A>G (p.Thr2479Ala) c.700A>G (p.Thr234Ala) n.956A>G c.7615A>G (p.Thr2539Ala) c.7549A>G (p.Thr2517Ala) c.7612A>G (p.Thr2538Ala) c.7609A>G (p.Thr2537Ala) c.7555A>G (p.Thr2519Ala) c.7525A>G (p.Thr2509Ala) c.7480A>G (p.Thr2494Ala) c.7075A>G (p.Thr2359Ala) c.6433A>G (p.Thr2145Ala) c.3943A>G (p.Thr1315Ala) | |
10 | g.71800693A>T | CA377159925 | CDH23 | c.7420A>T (p.Thr2474Ser) c.1353A>T (n.1353A>T) c.1017A>T (n.1017A>T) c.7435A>T (p.Thr2479Ser) c.700A>T (p.Thr234Ser) n.956A>T c.7615A>T (p.Thr2539Ser) c.7549A>T (p.Thr2517Ser) c.7612A>T (p.Thr2538Ser) c.7609A>T (p.Thr2537Ser) c.7555A>T (p.Thr2519Ser) c.7525A>T (p.Thr2509Ser) c.7480A>T (p.Thr2494Ser) c.7075A>T (p.Thr2359Ser) c.6433A>T (p.Thr2145Ser) c.3943A>T (p.Thr1315Ser) | |
10 | g.71800694C>A | CA377159926 | CDH23 | c.7421C>A (p.Thr2474Asn) c.1354C>A (n.1354C>A) c.1018C>A (n.1018C>A) c.7436C>A (p.Thr2479Asn) c.701C>A (p.Thr234Asn) n.957C>A c.7616C>A (p.Thr2539Asn) c.7550C>A (p.Thr2517Asn) c.7613C>A (p.Thr2538Asn) c.7610C>A (p.Thr2537Asn) c.7556C>A (p.Thr2519Asn) c.7526C>A (p.Thr2509Asn) c.7481C>A (p.Thr2494Asn) c.7076C>A (p.Thr2359Asn) c.6434C>A (p.Thr2145Asn) c.3944C>A (p.Thr1315Asn) | |
10 | g.71800694C= | CA1918879409 | CDH23 | c.7421C= (p.Thr2474=) c.1354C= (n.1354C=) c.1018C= (n.1018C=) c.7436C= (p.Thr2479=) c.701C= (p.Thr234=) n.957C= c.7616C= (p.Thr2539=) c.7550C= (p.Thr2517=) c.7613C= (p.Thr2538=) c.7610C= (p.Thr2537=) c.7556C= (p.Thr2519=) c.7526C= (p.Thr2509=) c.7481C= (p.Thr2494=) c.7076C= (p.Thr2359=) c.6434C= (p.Thr2145=) c.3944C= (p.Thr1315=) | |
10 | g.71800694C>G | CA377159927 | CDH23 | c.7421C>G (p.Thr2474Ser) c.1354C>G (n.1354C>G) c.1018C>G (n.1018C>G) c.7436C>G (p.Thr2479Ser) c.701C>G (p.Thr234Ser) n.957C>G c.7616C>G (p.Thr2539Ser) c.7550C>G (p.Thr2517Ser) c.7613C>G (p.Thr2538Ser) c.7610C>G (p.Thr2537Ser) c.7556C>G (p.Thr2519Ser) c.7526C>G (p.Thr2509Ser) c.7481C>G (p.Thr2494Ser) c.7076C>G (p.Thr2359Ser) c.6434C>G (p.Thr2145Ser) c.3944C>G (p.Thr1315Ser) | |
10 | g.71800694C>T | CA5546343 | CDH23 | c.7421C>T (p.Thr2474Ile) c.1354C>T (n.1354C>T) c.1018C>T (n.1018C>T) c.7436C>T (p.Thr2479Ile) c.701C>T (p.Thr234Ile) n.957C>T c.7616C>T (p.Thr2539Ile) c.7550C>T (p.Thr2517Ile) c.7613C>T (p.Thr2538Ile) c.7610C>T (p.Thr2537Ile) c.7556C>T (p.Thr2519Ile) c.7526C>T (p.Thr2509Ile) c.7481C>T (p.Thr2494Ile) c.7076C>T (p.Thr2359Ile) c.6434C>T (p.Thr2145Ile) c.3944C>T (p.Thr1315Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800695T>A | CA470062269 | CDH23 | c.7422T>A (p.Thr2474=) c.1355T>A (n.1355T>A) c.1019T>A (n.1019T>A) c.7437T>A (p.Thr2479=) c.702T>A (p.Thr234=) n.958T>A c.7617T>A (p.Thr2539=) c.7551T>A (p.Thr2517=) c.7614T>A (p.Thr2538=) c.7611T>A (p.Thr2537=) c.7557T>A (p.Thr2519=) c.7527T>A (p.Thr2509=) c.7482T>A (p.Thr2494=) c.7077T>A (p.Thr2359=) c.6435T>A (p.Thr2145=) c.3945T>A (p.Thr1315=) | |
10 | g.71800695T>C | CA470062270 | CDH23 | c.7422T>C (p.Thr2474=) c.1355T>C (n.1355T>C) c.1019T>C (n.1019T>C) c.7437T>C (p.Thr2479=) c.702T>C (p.Thr234=) n.958T>C c.7617T>C (p.Thr2539=) c.7551T>C (p.Thr2517=) c.7614T>C (p.Thr2538=) c.7611T>C (p.Thr2537=) c.7557T>C (p.Thr2519=) c.7527T>C (p.Thr2509=) c.7482T>C (p.Thr2494=) c.7077T>C (p.Thr2359=) c.6435T>C (p.Thr2145=) c.3945T>C (p.Thr1315=) | dbSNP gnomAD v4 |
10 | g.71800695T>G | CA470062271 | CDH23 | c.7422T>G (p.Thr2474=) c.1355T>G (n.1355T>G) c.1019T>G (n.1019T>G) c.7437T>G (p.Thr2479=) c.702T>G (p.Thr234=) n.958T>G c.7617T>G (p.Thr2539=) c.7551T>G (p.Thr2517=) c.7614T>G (p.Thr2538=) c.7611T>G (p.Thr2537=) c.7557T>G (p.Thr2519=) c.7527T>G (p.Thr2509=) c.7482T>G (p.Thr2494=) c.7077T>G (p.Thr2359=) c.6435T>G (p.Thr2145=) c.3945T>G (p.Thr1315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71800695T= | CA1918879410 | CDH23 | c.7422T= (p.Thr2474=) c.1355T= (n.1355T=) c.1019T= (n.1019T=) c.7437T= (p.Thr2479=) c.702T= (p.Thr234=) n.958T= c.7617T= (p.Thr2539=) c.7551T= (p.Thr2517=) c.7614T= (p.Thr2538=) c.7611T= (p.Thr2537=) c.7557T= (p.Thr2519=) c.7527T= (p.Thr2509=) c.7482T= (p.Thr2494=) c.7077T= (p.Thr2359=) c.6435T= (p.Thr2145=) c.3945T= (p.Thr1315=) | |
10 | g.71800696G>A | CA377159929 | CDH23 | c.7423G>A (p.Ala2475Thr) c.1356G>A (n.1356G>A) c.1020G>A (n.1020G>A) c.7438G>A (p.Ala2480Thr) c.703G>A (p.Ala235Thr) n.959G>A c.7618G>A (p.Ala2540Thr) c.7552G>A (p.Ala2518Thr) c.7615G>A (p.Ala2539Thr) c.7612G>A (p.Ala2538Thr) c.7558G>A (p.Ala2520Thr) c.7528G>A (p.Ala2510Thr) c.7483G>A (p.Ala2495Thr) c.7078G>A (p.Ala2360Thr) c.6436G>A (p.Ala2146Thr) c.3946G>A (p.Ala1316Thr) | gnomAD v4 |
10 | g.71800696G>C | CA377159928 | CDH23 | c.7423G>C (p.Ala2475Pro) c.1356G>C (n.1356G>C) c.1020G>C (n.1020G>C) c.7438G>C (p.Ala2480Pro) c.703G>C (p.Ala235Pro) n.959G>C c.7618G>C (p.Ala2540Pro) c.7552G>C (p.Ala2518Pro) c.7615G>C (p.Ala2539Pro) c.7612G>C (p.Ala2538Pro) c.7558G>C (p.Ala2520Pro) c.7528G>C (p.Ala2510Pro) c.7483G>C (p.Ala2495Pro) c.7078G>C (p.Ala2360Pro) c.6436G>C (p.Ala2146Pro) c.3946G>C (p.Ala1316Pro) | |
10 | g.71800696G>T | CA377159930 | CDH23 | c.7423G>T (p.Ala2475Ser) c.1356G>T (n.1356G>T) c.1020G>T (n.1020G>T) c.7438G>T (p.Ala2480Ser) c.703G>T (p.Ala235Ser) n.959G>T c.7618G>T (p.Ala2540Ser) c.7552G>T (p.Ala2518Ser) c.7615G>T (p.Ala2539Ser) c.7612G>T (p.Ala2538Ser) c.7558G>T (p.Ala2520Ser) c.7528G>T (p.Ala2510Ser) c.7483G>T (p.Ala2495Ser) c.7078G>T (p.Ala2360Ser) c.6436G>T (p.Ala2146Ser) c.3946G>T (p.Ala1316Ser) | COSMIC |
10 | g.71800697C>A | CA377159931 | CDH23 | c.7424C>A (p.Ala2475Asp) c.1357C>A (n.1357C>A) c.1021C>A (n.1021C>A) c.7439C>A (p.Ala2480Asp) c.704C>A (p.Ala235Asp) n.960C>A c.7619C>A (p.Ala2540Asp) c.7553C>A (p.Ala2518Asp) c.7616C>A (p.Ala2539Asp) c.7613C>A (p.Ala2538Asp) c.7559C>A (p.Ala2520Asp) c.7529C>A (p.Ala2510Asp) c.7484C>A (p.Ala2495Asp) c.7079C>A (p.Ala2360Asp) c.6437C>A (p.Ala2146Asp) c.3947C>A (p.Ala1316Asp) | |
10 | g.71800697C= | CA1918879411 | CDH23 | c.7424C= (p.Ala2475=) c.1357C= (n.1357C=) c.1021C= (n.1021C=) c.7439C= (p.Ala2480=) c.704C= (p.Ala235=) n.960C= c.7619C= (p.Ala2540=) c.7553C= (p.Ala2518=) c.7616C= (p.Ala2539=) c.7613C= (p.Ala2538=) c.7559C= (p.Ala2520=) c.7529C= (p.Ala2510=) c.7484C= (p.Ala2495=) c.7079C= (p.Ala2360=) c.6437C= (p.Ala2146=) c.3947C= (p.Ala1316=) | |
10 | g.71800697C>G | CA377159932 | CDH23 | c.7424C>G (p.Ala2475Gly) c.1357C>G (n.1357C>G) c.1021C>G (n.1021C>G) c.7439C>G (p.Ala2480Gly) c.704C>G (p.Ala235Gly) n.960C>G c.7619C>G (p.Ala2540Gly) c.7553C>G (p.Ala2518Gly) c.7616C>G (p.Ala2539Gly) c.7613C>G (p.Ala2538Gly) c.7559C>G (p.Ala2520Gly) c.7529C>G (p.Ala2510Gly) c.7484C>G (p.Ala2495Gly) c.7079C>G (p.Ala2360Gly) c.6437C>G (p.Ala2146Gly) c.3947C>G (p.Ala1316Gly) | |
10 | g.71800697C>T | CA5546344 | CDH23 | c.7424C>T (p.Ala2475Val) c.1357C>T (n.1357C>T) c.1021C>T (n.1021C>T) c.7439C>T (p.Ala2480Val) c.704C>T (p.Ala235Val) n.960C>T c.7619C>T (p.Ala2540Val) c.7553C>T (p.Ala2518Val) c.7616C>T (p.Ala2539Val) c.7613C>T (p.Ala2538Val) c.7559C>T (p.Ala2520Val) c.7529C>T (p.Ala2510Val) c.7484C>T (p.Ala2495Val) c.7079C>T (p.Ala2360Val) c.6437C>T (p.Ala2146Val) c.3947C>T (p.Ala1316Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71800698C>A | CA470062272 | CDH23 | c.7425C>A (p.Ala2475=) c.1358C>A (n.1358C>A) c.1022C>A (n.1022C>A) c.7440C>A (p.Ala2480=) c.705C>A (p.Ala235=) n.961C>A c.7620C>A (p.Ala2540=) c.7554C>A (p.Ala2518=) c.7617C>A (p.Ala2539=) c.7614C>A (p.Ala2538=) c.7560C>A (p.Ala2520=) c.7530C>A (p.Ala2510=) c.7485C>A (p.Ala2495=) c.7080C>A (p.Ala2360=) c.6438C>A (p.Ala2146=) c.3948C>A (p.Ala1316=) | |
10 | g.71800698C>G | CA470062273 | CDH23 | c.7425C>G (p.Ala2475=) c.1358C>G (n.1358C>G) c.1022C>G (n.1022C>G) c.7440C>G (p.Ala2480=) c.705C>G (p.Ala235=) n.961C>G c.7620C>G (p.Ala2540=) c.7554C>G (p.Ala2518=) c.7617C>G (p.Ala2539=) c.7614C>G (p.Ala2538=) c.7560C>G (p.Ala2520=) c.7530C>G (p.Ala2510=) c.7485C>G (p.Ala2495=) c.7080C>G (p.Ala2360=) c.6438C>G (p.Ala2146=) c.3948C>G (p.Ala1316=) | |
10 | g.71800698C>T | CA470062274 | CDH23 | c.7425C>T (p.Ala2475=) c.1358C>T (n.1358C>T) c.1022C>T (n.1022C>T) c.7440C>T (p.Ala2480=) c.705C>T (p.Ala235=) n.961C>T c.7620C>T (p.Ala2540=) c.7554C>T (p.Ala2518=) c.7617C>T (p.Ala2539=) c.7614C>T (p.Ala2538=) c.7560C>T (p.Ala2520=) c.7530C>T (p.Ala2510=) c.7485C>T (p.Ala2495=) c.7080C>T (p.Ala2360=) c.6438C>T (p.Ala2146=) c.3948C>T (p.Ala1316=) | |
10 | g.71800699T>A | CA377159933 | CDH23 | c.7426T>A (p.Leu2476Met) c.1359T>A (n.1359T>A) c.1023T>A (n.1023T>A) c.7441T>A (p.Leu2481Met) c.706T>A (p.Leu236Met) n.962T>A c.7621T>A (p.Leu2541Met) c.7555T>A (p.Leu2519Met) c.7618T>A (p.Leu2540Met) c.7615T>A (p.Leu2539Met) c.7561T>A (p.Leu2521Met) c.7531T>A (p.Leu2511Met) c.7486T>A (p.Leu2496Met) c.7081T>A (p.Leu2361Met) c.6439T>A (p.Leu2147Met) c.3949T>A (p.Leu1317Met) | ClinVar dbSNP |
10 | g.71800699T>C | CA470062275 | CDH23 | c.7426T>C (p.Leu2476=) c.1359T>C (n.1359T>C) c.1023T>C (n.1023T>C) c.7441T>C (p.Leu2481=) c.706T>C (p.Leu236=) n.962T>C c.7621T>C (p.Leu2541=) c.7555T>C (p.Leu2519=) c.7618T>C (p.Leu2540=) c.7615T>C (p.Leu2539=) c.7561T>C (p.Leu2521=) c.7531T>C (p.Leu2511=) c.7486T>C (p.Leu2496=) c.7081T>C (p.Leu2361=) c.6439T>C (p.Leu2147=) c.3949T>C (p.Leu1317=) | |
10 | g.71800699T>G | CA377159934 | CDH23 | c.7426T>G (p.Leu2476Val) c.1359T>G (n.1359T>G) c.1023T>G (n.1023T>G) c.7441T>G (p.Leu2481Val) c.706T>G (p.Leu236Val) n.962T>G c.7621T>G (p.Leu2541Val) c.7555T>G (p.Leu2519Val) c.7618T>G (p.Leu2540Val) c.7615T>G (p.Leu2539Val) c.7561T>G (p.Leu2521Val) c.7531T>G (p.Leu2511Val) c.7486T>G (p.Leu2496Val) c.7081T>G (p.Leu2361Val) c.6439T>G (p.Leu2147Val) c.3949T>G (p.Leu1317Val) | |
10 | g.71800700T>A | CA377159935 | CDH23 | c.7427T>A (p.Leu2476Ter) c.1360T>A (n.1360T>A) c.1024T>A (n.1024T>A) c.7442T>A (p.Leu2481Ter) c.707T>A (p.Leu236Ter) n.963T>A c.7622T>A (p.Leu2541Ter) c.7556T>A (p.Leu2519Ter) c.7619T>A (p.Leu2540Ter) c.7616T>A (p.Leu2539Ter) c.7562T>A (p.Leu2521Ter) c.7532T>A (p.Leu2511Ter) c.7487T>A (p.Leu2496Ter) c.7082T>A (p.Leu2361Ter) c.6440T>A (p.Leu2147Ter) c.3950T>A (p.Leu1317Ter) | dbSNP |
10 | g.71800700T>C | CA377159936 | CDH23 | c.7427T>C (p.Leu2476Ser) c.1360T>C (n.1360T>C) c.1024T>C (n.1024T>C) c.7442T>C (p.Leu2481Ser) c.707T>C (p.Leu236Ser) n.963T>C c.7622T>C (p.Leu2541Ser) c.7556T>C (p.Leu2519Ser) c.7619T>C (p.Leu2540Ser) c.7616T>C (p.Leu2539Ser) c.7562T>C (p.Leu2521Ser) c.7532T>C (p.Leu2511Ser) c.7487T>C (p.Leu2496Ser) c.7082T>C (p.Leu2361Ser) c.6440T>C (p.Leu2147Ser) c.3950T>C (p.Leu1317Ser) | gnomAD v4 |
10 | g.71800700T>G | CA377159937 | CDH23 | c.7427T>G (p.Leu2476Trp) c.1360T>G (n.1360T>G) c.1024T>G (n.1024T>G) c.7442T>G (p.Leu2481Trp) c.707T>G (p.Leu236Trp) n.963T>G c.7622T>G (p.Leu2541Trp) c.7556T>G (p.Leu2519Trp) c.7619T>G (p.Leu2540Trp) c.7616T>G (p.Leu2539Trp) c.7562T>G (p.Leu2521Trp) c.7532T>G (p.Leu2511Trp) c.7487T>G (p.Leu2496Trp) c.7082T>G (p.Leu2361Trp) c.6440T>G (p.Leu2147Trp) c.3950T>G (p.Leu1317Trp) | |
10 | g.71800701G>A | CA470062276 | CDH23 | c.7428G>A (p.Leu2476=) c.1361G>A (n.1361G>A) c.1025G>A (n.1025G>A) c.7443G>A (p.Leu2481=) c.708G>A (p.Leu236=) n.964G>A c.7623G>A (p.Leu2541=) c.7557G>A (p.Leu2519=) c.7620G>A (p.Leu2540=) c.7617G>A (p.Leu2539=) c.7563G>A (p.Leu2521=) c.7533G>A (p.Leu2511=) c.7488G>A (p.Leu2496=) c.7083G>A (p.Leu2361=) c.6441G>A (p.Leu2147=) c.3951G>A (p.Leu1317=) | ClinVar |
10 | g.71800701G>C | CA377159938 | CDH23 | c.7428G>C (p.Leu2476Phe) c.1361G>C (n.1361G>C) c.1025G>C (n.1025G>C) c.7443G>C (p.Leu2481Phe) c.708G>C (p.Leu236Phe) n.964G>C c.7623G>C (p.Leu2541Phe) c.7557G>C (p.Leu2519Phe) c.7620G>C (p.Leu2540Phe) c.7617G>C (p.Leu2539Phe) c.7563G>C (p.Leu2521Phe) c.7533G>C (p.Leu2511Phe) c.7488G>C (p.Leu2496Phe) c.7083G>C (p.Leu2361Phe) c.6441G>C (p.Leu2147Phe) c.3951G>C (p.Leu1317Phe) | |
10 | g.71800701G>T | CA377159939 | CDH23 | c.7428G>T (p.Leu2476Phe) c.1361G>T (n.1361G>T) c.1025G>T (n.1025G>T) c.7443G>T (p.Leu2481Phe) c.708G>T (p.Leu236Phe) n.964G>T c.7623G>T (p.Leu2541Phe) c.7557G>T (p.Leu2519Phe) c.7620G>T (p.Leu2540Phe) c.7617G>T (p.Leu2539Phe) c.7563G>T (p.Leu2521Phe) c.7533G>T (p.Leu2511Phe) c.7488G>T (p.Leu2496Phe) c.7083G>T (p.Leu2361Phe) c.6441G>T (p.Leu2147Phe) c.3951G>T (p.Leu1317Phe) | |
10 | g.71800702G>A | CA377159940 | CDH23 | c.7429G>A (p.Ala2477Thr) c.1362G>A (n.1362G>A) c.1026G>A (n.1026G>A) c.7444G>A (p.Ala2482Thr) c.709G>A (p.Ala237Thr) n.965G>A c.7624G>A (p.Ala2542Thr) c.7558G>A (p.Ala2520Thr) c.7621G>A (p.Ala2541Thr) c.7618G>A (p.Ala2540Thr) c.7564G>A (p.Ala2522Thr) c.7534G>A (p.Ala2512Thr) c.7489G>A (p.Ala2497Thr) c.7084G>A (p.Ala2362Thr) c.6442G>A (p.Ala2148Thr) c.3952G>A (p.Ala1318Thr) | |
10 | g.71800702G>C | CA377159941 | CDH23 | c.7429G>C (p.Ala2477Pro) c.1362G>C (n.1362G>C) c.1026G>C (n.1026G>C) c.7444G>C (p.Ala2482Pro) c.709G>C (p.Ala237Pro) n.965G>C c.7624G>C (p.Ala2542Pro) c.7558G>C (p.Ala2520Pro) c.7621G>C (p.Ala2541Pro) c.7618G>C (p.Ala2540Pro) c.7564G>C (p.Ala2522Pro) c.7534G>C (p.Ala2512Pro) c.7489G>C (p.Ala2497Pro) c.7084G>C (p.Ala2362Pro) c.6442G>C (p.Ala2148Pro) c.3952G>C (p.Ala1318Pro) | |
10 | g.71800702G>T | CA377159942 | CDH23 | c.7429G>T (p.Ala2477Ser) c.1362G>T (n.1362G>T) c.1026G>T (n.1026G>T) c.7444G>T (p.Ala2482Ser) c.709G>T (p.Ala237Ser) n.965G>T c.7624G>T (p.Ala2542Ser) c.7558G>T (p.Ala2520Ser) c.7621G>T (p.Ala2541Ser) c.7618G>T (p.Ala2540Ser) c.7564G>T (p.Ala2522Ser) c.7534G>T (p.Ala2512Ser) c.7489G>T (p.Ala2497Ser) c.7084G>T (p.Ala2362Ser) c.6442G>T (p.Ala2148Ser) c.3952G>T (p.Ala1318Ser) | |
10 | g.71800703C>A | CA377159945 | CDH23 | c.7430C>A (p.Ala2477Asp) c.1363C>A (n.1363C>A) c.1027C>A (n.1027C>A) c.7445C>A (p.Ala2482Asp) c.710C>A (p.Ala237Asp) n.966C>A c.7625C>A (p.Ala2542Asp) c.7559C>A (p.Ala2520Asp) c.7622C>A (p.Ala2541Asp) c.7619C>A (p.Ala2540Asp) c.7565C>A (p.Ala2522Asp) c.7535C>A (p.Ala2512Asp) c.7490C>A (p.Ala2497Asp) c.7085C>A (p.Ala2362Asp) c.6443C>A (p.Ala2148Asp) c.3953C>A (p.Ala1318Asp) | |
10 | g.71800703C>G | CA377159943 | CDH23 | c.7430C>G (p.Ala2477Gly) c.1363C>G (n.1363C>G) c.1027C>G (n.1027C>G) c.7445C>G (p.Ala2482Gly) c.710C>G (p.Ala237Gly) n.966C>G c.7625C>G (p.Ala2542Gly) c.7559C>G (p.Ala2520Gly) c.7622C>G (p.Ala2541Gly) c.7619C>G (p.Ala2540Gly) c.7565C>G (p.Ala2522Gly) c.7535C>G (p.Ala2512Gly) c.7490C>G (p.Ala2497Gly) c.7085C>G (p.Ala2362Gly) c.6443C>G (p.Ala2148Gly) c.3953C>G (p.Ala1318Gly) | |
10 | g.71800703C>T | CA377159944 | CDH23 | c.7430C>T (p.Ala2477Val) c.1363C>T (n.1363C>T) c.1027C>T (n.1027C>T) c.7445C>T (p.Ala2482Val) c.710C>T (p.Ala237Val) n.966C>T c.7625C>T (p.Ala2542Val) c.7559C>T (p.Ala2520Val) c.7622C>T (p.Ala2541Val) c.7619C>T (p.Ala2540Val) c.7565C>T (p.Ala2522Val) c.7535C>T (p.Ala2512Val) c.7490C>T (p.Ala2497Val) c.7085C>T (p.Ala2362Val) c.6443C>T (p.Ala2148Val) c.3953C>T (p.Ala1318Val) | gnomAD v4 |
10 | g.71800704C>A | CA470062277 | CDH23 | c.7431C>A (p.Ala2477=) c.1364C>A (n.1364C>A) c.1028C>A (n.1028C>A) c.7446C>A (p.Ala2482=) c.711C>A (p.Ala237=) n.967C>A c.7626C>A (p.Ala2542=) c.7560C>A (p.Ala2520=) c.7623C>A (p.Ala2541=) c.7620C>A (p.Ala2540=) c.7566C>A (p.Ala2522=) c.7536C>A (p.Ala2512=) c.7491C>A (p.Ala2497=) c.7086C>A (p.Ala2362=) c.6444C>A (p.Ala2148=) c.3954C>A (p.Ala1318=) | COSMIC |
10 | g.71800704C>G | CA470062278 | CDH23 | c.7431C>G (p.Ala2477=) c.1364C>G (n.1364C>G) c.1028C>G (n.1028C>G) c.7446C>G (p.Ala2482=) c.711C>G (p.Ala237=) n.967C>G c.7626C>G (p.Ala2542=) c.7560C>G (p.Ala2520=) c.7623C>G (p.Ala2541=) c.7620C>G (p.Ala2540=) c.7566C>G (p.Ala2522=) c.7536C>G (p.Ala2512=) c.7491C>G (p.Ala2497=) c.7086C>G (p.Ala2362=) c.6444C>G (p.Ala2148=) c.3954C>G (p.Ala1318=) | |
10 | g.71800704C>T | CA470062279 | CDH23 | c.7431C>T (p.Ala2477=) c.1364C>T (n.1364C>T) c.1028C>T (n.1028C>T) c.7446C>T (p.Ala2482=) c.711C>T (p.Ala237=) n.967C>T c.7626C>T (p.Ala2542=) c.7560C>T (p.Ala2520=) c.7623C>T (p.Ala2541=) c.7620C>T (p.Ala2540=) c.7566C>T (p.Ala2522=) c.7536C>T (p.Ala2512=) c.7491C>T (p.Ala2497=) c.7086C>T (p.Ala2362=) c.6444C>T (p.Ala2148=) c.3954C>T (p.Ala1318=) | |
10 | g.71800705A>C | CA377159946 | CDH23 | c.7432A>C (p.Lys2478Gln) c.1365A>C (n.1365A>C) c.1029A>C (n.1029A>C) c.7447A>C (p.Lys2483Gln) c.712A>C (p.Lys238Gln) n.968A>C c.7627A>C (p.Lys2543Gln) c.7561A>C (p.Lys2521Gln) c.7624A>C (p.Lys2542Gln) c.7621A>C (p.Lys2541Gln) c.7567A>C (p.Lys2523Gln) c.7537A>C (p.Lys2513Gln) c.7492A>C (p.Lys2498Gln) c.7087A>C (p.Lys2363Gln) c.6445A>C (p.Lys2149Gln) c.3955A>C (p.Lys1319Gln) | |
10 | g.71800705A>G | CA377159947 | CDH23 | c.7432A>G (p.Lys2478Glu) c.1365A>G (n.1365A>G) c.1029A>G (n.1029A>G) c.7447A>G (p.Lys2483Glu) c.712A>G (p.Lys238Glu) n.968A>G c.7627A>G (p.Lys2543Glu) c.7561A>G (p.Lys2521Glu) c.7624A>G (p.Lys2542Glu) c.7621A>G (p.Lys2541Glu) c.7567A>G (p.Lys2523Glu) c.7537A>G (p.Lys2513Glu) c.7492A>G (p.Lys2498Glu) c.7087A>G (p.Lys2363Glu) c.6445A>G (p.Lys2149Glu) c.3955A>G (p.Lys1319Glu) | |
10 | g.71800705A>T | CA377159948 | CDH23 | c.7432A>T (p.Lys2478Ter) c.1365A>T (n.1365A>T) c.1029A>T (n.1029A>T) c.7447A>T (p.Lys2483Ter) c.712A>T (p.Lys238Ter) n.968A>T c.7627A>T (p.Lys2543Ter) c.7561A>T (p.Lys2521Ter) c.7624A>T (p.Lys2542Ter) c.7621A>T (p.Lys2541Ter) c.7567A>T (p.Lys2523Ter) c.7537A>T (p.Lys2513Ter) c.7492A>T (p.Lys2498Ter) c.7087A>T (p.Lys2363Ter) c.6445A>T (p.Lys2149Ter) c.3955A>T (p.Lys1319Ter) | |
10 | g.71800706A>C | CA377159949 | CDH23 | c.7433A>C (p.Lys2478Thr) c.1366A>C (n.1366A>C) c.1030A>C (n.1030A>C) c.7448A>C (p.Lys2483Thr) c.713A>C (p.Lys238Thr) n.969A>C c.7628A>C (p.Lys2543Thr) c.7562A>C (p.Lys2521Thr) c.7625A>C (p.Lys2542Thr) c.7622A>C (p.Lys2541Thr) c.7568A>C (p.Lys2523Thr) c.7538A>C (p.Lys2513Thr) c.7493A>C (p.Lys2498Thr) c.7088A>C (p.Lys2363Thr) c.6446A>C (p.Lys2149Thr) c.3956A>C (p.Lys1319Thr) | |
10 | g.71800706A>G | CA377159950 | CDH23 | c.7433A>G (p.Lys2478Arg) c.1366A>G (n.1366A>G) c.1030A>G (n.1030A>G) c.7448A>G (p.Lys2483Arg) c.713A>G (p.Lys238Arg) n.969A>G c.7628A>G (p.Lys2543Arg) c.7562A>G (p.Lys2521Arg) c.7625A>G (p.Lys2542Arg) c.7622A>G (p.Lys2541Arg) c.7568A>G (p.Lys2523Arg) c.7538A>G (p.Lys2513Arg) c.7493A>G (p.Lys2498Arg) c.7088A>G (p.Lys2363Arg) c.6446A>G (p.Lys2149Arg) c.3956A>G (p.Lys1319Arg) | |
10 | g.71800706A>T | CA377159951 | CDH23 | c.7433A>T (p.Lys2478Ile) c.1366A>T (n.1366A>T) c.1030A>T (n.1030A>T) c.7448A>T (p.Lys2483Ile) c.713A>T (p.Lys238Ile) n.969A>T c.7628A>T (p.Lys2543Ile) c.7562A>T (p.Lys2521Ile) c.7625A>T (p.Lys2542Ile) c.7622A>T (p.Lys2541Ile) c.7568A>T (p.Lys2523Ile) c.7538A>T (p.Lys2513Ile) c.7493A>T (p.Lys2498Ile) c.7088A>T (p.Lys2363Ile) c.6446A>T (p.Lys2149Ile) c.3956A>T (p.Lys1319Ile) | |
10 | g.71800707A>C | CA377159952 | CDH23 | c.7434A>C (p.Lys2478Asn) c.1367A>C (n.1367A>C) c.1031A>C (n.1031A>C) c.7449A>C (p.Lys2483Asn) c.714A>C (p.Lys238Asn) n.970A>C c.7629A>C (p.Lys2543Asn) c.7563A>C (p.Lys2521Asn) c.7626A>C (p.Lys2542Asn) c.7623A>C (p.Lys2541Asn) c.7569A>C (p.Lys2523Asn) c.7539A>C (p.Lys2513Asn) c.7494A>C (p.Lys2498Asn) c.7089A>C (p.Lys2363Asn) c.6447A>C (p.Lys2149Asn) c.3957A>C (p.Lys1319Asn) | |
10 | g.71800707A>G | CA470062280 | CDH23 | c.7434A>G (p.Lys2478=) c.1367A>G (n.1367A>G) c.1031A>G (n.1031A>G) c.7449A>G (p.Lys2483=) c.714A>G (p.Lys238=) n.970A>G c.7629A>G (p.Lys2543=) c.7563A>G (p.Lys2521=) c.7626A>G (p.Lys2542=) c.7623A>G (p.Lys2541=) c.7569A>G (p.Lys2523=) c.7539A>G (p.Lys2513=) c.7494A>G (p.Lys2498=) c.7089A>G (p.Lys2363=) c.6447A>G (p.Lys2149=) c.3957A>G (p.Lys1319=) | |
10 | g.71800707A>T | CA377159953 | CDH23 | c.7434A>T (p.Lys2478Asn) c.1367A>T (n.1367A>T) c.1031A>T (n.1031A>T) c.7449A>T (p.Lys2483Asn) c.714A>T (p.Lys238Asn) n.970A>T c.7629A>T (p.Lys2543Asn) c.7563A>T (p.Lys2521Asn) c.7626A>T (p.Lys2542Asn) c.7623A>T (p.Lys2541Asn) c.7569A>T (p.Lys2523Asn) c.7539A>T (p.Lys2513Asn) c.7494A>T (p.Lys2498Asn) c.7089A>T (p.Lys2363Asn) c.6447A>T (p.Lys2149Asn) c.3957A>T (p.Lys1319Asn) | |
10 | g.71800708G>A | CA377159954 | CDH23 | c.7435G>A (p.Asp2479Asn) c.1368G>A (n.1368G>A) c.1032G>A (n.1032G>A) c.7450G>A (p.Asp2484Asn) c.715G>A (p.Asp239Asn) n.971G>A c.7630G>A (p.Asp2544Asn) c.7564G>A (p.Asp2522Asn) c.7627G>A (p.Asp2543Asn) c.7624G>A (p.Asp2542Asn) c.7570G>A (p.Asp2524Asn) c.7540G>A (p.Asp2514Asn) c.7495G>A (p.Asp2499Asn) c.7090G>A (p.Asp2364Asn) c.6448G>A (p.Asp2150Asn) c.3958G>A (p.Asp1320Asn) | |
10 | g.71800708G>C | CA377159955 | CDH23 | c.7435G>C (p.Asp2479His) c.1368G>C (n.1368G>C) c.1032G>C (n.1032G>C) c.7450G>C (p.Asp2484His) c.715G>C (p.Asp239His) n.971G>C c.7630G>C (p.Asp2544His) c.7564G>C (p.Asp2522His) c.7627G>C (p.Asp2543His) c.7624G>C (p.Asp2542His) c.7570G>C (p.Asp2524His) c.7540G>C (p.Asp2514His) c.7495G>C (p.Asp2499His) c.7090G>C (p.Asp2364His) c.6448G>C (p.Asp2150His) c.3958G>C (p.Asp1320His) | dbSNP |
10 | g.71800708G>T | CA377159956 | CDH23 | c.7435G>T (p.Asp2479Tyr) c.1368G>T (n.1368G>T) c.1032G>T (n.1032G>T) c.7450G>T (p.Asp2484Tyr) c.715G>T (p.Asp239Tyr) n.971G>T c.7630G>T (p.Asp2544Tyr) c.7564G>T (p.Asp2522Tyr) c.7627G>T (p.Asp2543Tyr) c.7624G>T (p.Asp2542Tyr) c.7570G>T (p.Asp2524Tyr) c.7540G>T (p.Asp2514Tyr) c.7495G>T (p.Asp2499Tyr) c.7090G>T (p.Asp2364Tyr) c.6448G>T (p.Asp2150Tyr) c.3958G>T (p.Asp1320Tyr) | |
10 | g.71800709A= | CA1918879412 | CDH23 | c.7436A= (p.Asp2479=) c.1369A= (n.1369A=) c.1033A= (n.1033A=) c.7451A= (p.Asp2484=) c.716A= (p.Asp239=) n.972A= c.7631A= (p.Asp2544=) c.7565A= (p.Asp2522=) c.7628A= (p.Asp2543=) c.7625A= (p.Asp2542=) c.7571A= (p.Asp2524=) c.7541A= (p.Asp2514=) c.7496A= (p.Asp2499=) c.7091A= (p.Asp2364=) c.6449A= (p.Asp2150=) c.3959A= (p.Asp1320=) | |
10 | g.71800709A>C | CA377159959 | CDH23 | c.7436A>C (p.Asp2479Ala) c.1369A>C (n.1369A>C) c.1033A>C (n.1033A>C) c.7451A>C (p.Asp2484Ala) c.716A>C (p.Asp239Ala) n.972A>C c.7631A>C (p.Asp2544Ala) c.7565A>C (p.Asp2522Ala) c.7628A>C (p.Asp2543Ala) c.7625A>C (p.Asp2542Ala) c.7571A>C (p.Asp2524Ala) c.7541A>C (p.Asp2514Ala) c.7496A>C (p.Asp2499Ala) c.7091A>C (p.Asp2364Ala) c.6449A>C (p.Asp2150Ala) c.3959A>C (p.Asp1320Ala) | |
10 | g.71800709A>G | CA377159958 | CDH23 | c.7436A>G (p.Asp2479Gly) c.1369A>G (n.1369A>G) c.1033A>G (n.1033A>G) c.7451A>G (p.Asp2484Gly) c.716A>G (p.Asp239Gly) n.972A>G c.7631A>G (p.Asp2544Gly) c.7565A>G (p.Asp2522Gly) c.7628A>G (p.Asp2543Gly) c.7625A>G (p.Asp2542Gly) c.7571A>G (p.Asp2524Gly) c.7541A>G (p.Asp2514Gly) c.7496A>G (p.Asp2499Gly) c.7091A>G (p.Asp2364Gly) c.6449A>G (p.Asp2150Gly) c.3959A>G (p.Asp1320Gly) | |
10 | g.71800709A>T | CA377159957 | CDH23 | c.7436A>T (p.Asp2479Val) c.1369A>T (n.1369A>T) c.1033A>T (n.1033A>T) c.7451A>T (p.Asp2484Val) c.716A>T (p.Asp239Val) n.972A>T c.7631A>T (p.Asp2544Val) c.7565A>T (p.Asp2522Val) c.7628A>T (p.Asp2543Val) c.7625A>T (p.Asp2542Val) c.7571A>T (p.Asp2524Val) c.7541A>T (p.Asp2514Val) c.7496A>T (p.Asp2499Val) c.7091A>T (p.Asp2364Val) c.6449A>T (p.Asp2150Val) c.3959A>T (p.Asp1320Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71800710C>A | CA377159960 | CDH23 | c.7437C>A (p.Asp2479Glu) c.1370C>A (n.1370C>A) c.1034C>A (n.1034C>A) c.7452C>A (p.Asp2484Glu) c.717C>A (p.Asp239Glu) n.973C>A c.7632C>A (p.Asp2544Glu) c.7566C>A (p.Asp2522Glu) c.7629C>A (p.Asp2543Glu) c.7626C>A (p.Asp2542Glu) c.7572C>A (p.Asp2524Glu) c.7542C>A (p.Asp2514Glu) c.7497C>A (p.Asp2499Glu) c.7092C>A (p.Asp2364Glu) c.6450C>A (p.Asp2150Glu) c.3960C>A (p.Asp1320Glu) | |
10 | g.71800710C= | CA1918879413 | CDH23 | c.7437C= (p.Asp2479=) c.1370C= (n.1370C=) c.1034C= (n.1034C=) c.7452C= (p.Asp2484=) c.717C= (p.Asp239=) n.973C= c.7632C= (p.Asp2544=) c.7566C= (p.Asp2522=) c.7629C= (p.Asp2543=) c.7626C= (p.Asp2542=) c.7572C= (p.Asp2524=) c.7542C= (p.Asp2514=) c.7497C= (p.Asp2499=) c.7092C= (p.Asp2364=) c.6450C= (p.Asp2150=) c.3960C= (p.Asp1320=) | |
10 | g.71800710C>G | CA5546345 | CDH23 | c.7437C>G (p.Asp2479Glu) c.1370C>G (n.1370C>G) c.1034C>G (n.1034C>G) c.7452C>G (p.Asp2484Glu) c.717C>G (p.Asp239Glu) n.973C>G c.7632C>G (p.Asp2544Glu) c.7566C>G (p.Asp2522Glu) c.7629C>G (p.Asp2543Glu) c.7626C>G (p.Asp2542Glu) c.7572C>G (p.Asp2524Glu) c.7542C>G (p.Asp2514Glu) c.7497C>G (p.Asp2499Glu) c.7092C>G (p.Asp2364Glu) c.6450C>G (p.Asp2150Glu) c.3960C>G (p.Asp1320Glu) | dbSNP ExAC gnomAD v2 |
10 | g.71800710C>T | CA470062281 | CDH23 | c.7437C>T (p.Asp2479=) c.1370C>T (n.1370C>T) c.1034C>T (n.1034C>T) c.7452C>T (p.Asp2484=) c.717C>T (p.Asp239=) n.973C>T c.7632C>T (p.Asp2544=) c.7566C>T (p.Asp2522=) c.7629C>T (p.Asp2543=) c.7626C>T (p.Asp2542=) c.7572C>T (p.Asp2524=) c.7542C>T (p.Asp2514=) c.7497C>T (p.Asp2499=) c.7092C>T (p.Asp2364=) c.6450C>T (p.Asp2150=) c.3960C>T (p.Asp1320=) | gnomAD v4 |
10 | g.71800711A>C | CA377159961 | CDH23 | c.7438A>C (p.Asn2480His) c.1371A>C (n.1371A>C) c.1035A>C (n.1035A>C) c.7453A>C (p.Asn2485His) c.718A>C (p.Asn240His) n.974A>C c.7633A>C (p.Asn2545His) c.7567A>C (p.Asn2523His) c.7630A>C (p.Asn2544His) c.7627A>C (p.Asn2543His) c.7573A>C (p.Asn2525His) c.7543A>C (p.Asn2515His) c.7498A>C (p.Asn2500His) c.7093A>C (p.Asn2365His) c.6451A>C (p.Asn2151His) c.3961A>C (p.Asn1321His) | |
10 | g.71800711A>G | CA377159962 | CDH23 | c.7438A>G (p.Asn2480Asp) c.1371A>G (n.1371A>G) c.1035A>G (n.1035A>G) c.7453A>G (p.Asn2485Asp) c.718A>G (p.Asn240Asp) n.974A>G c.7633A>G (p.Asn2545Asp) c.7567A>G (p.Asn2523Asp) c.7630A>G (p.Asn2544Asp) c.7627A>G (p.Asn2543Asp) c.7573A>G (p.Asn2525Asp) c.7543A>G (p.Asn2515Asp) c.7498A>G (p.Asn2500Asp) c.7093A>G (p.Asn2365Asp) c.6451A>G (p.Asn2151Asp) c.3961A>G (p.Asn1321Asp) | |
10 | g.71800711A>T | CA377159963 | CDH23 | c.7438A>T (p.Asn2480Tyr) c.1371A>T (n.1371A>T) c.1035A>T (n.1035A>T) c.7453A>T (p.Asn2485Tyr) c.718A>T (p.Asn240Tyr) n.974A>T c.7633A>T (p.Asn2545Tyr) c.7567A>T (p.Asn2523Tyr) c.7630A>T (p.Asn2544Tyr) c.7627A>T (p.Asn2543Tyr) c.7573A>T (p.Asn2525Tyr) c.7543A>T (p.Asn2515Tyr) c.7498A>T (p.Asn2500Tyr) c.7093A>T (p.Asn2365Tyr) c.6451A>T (p.Asn2151Tyr) c.3961A>T (p.Asn1321Tyr) | |
10 | g.71800712A>C | CA377159964 | CDH23 | c.7439A>C (p.Asn2480Thr) c.1372A>C (n.1372A>C) c.1036A>C (n.1036A>C) c.7454A>C (p.Asn2485Thr) c.719A>C (p.Asn240Thr) n.975A>C c.7634A>C (p.Asn2545Thr) c.7568A>C (p.Asn2523Thr) c.7631A>C (p.Asn2544Thr) c.7628A>C (p.Asn2543Thr) c.7574A>C (p.Asn2525Thr) c.7544A>C (p.Asn2515Thr) c.7499A>C (p.Asn2500Thr) c.7094A>C (p.Asn2365Thr) c.6452A>C (p.Asn2151Thr) c.3962A>C (p.Asn1321Thr) | |
10 | g.71800712A>G | CA377159965 | CDH23 | c.7439A>G (p.Asn2480Ser) c.1372A>G (n.1372A>G) c.1036A>G (n.1036A>G) c.7454A>G (p.Asn2485Ser) c.719A>G (p.Asn240Ser) n.975A>G c.7634A>G (p.Asn2545Ser) c.7568A>G (p.Asn2523Ser) c.7631A>G (p.Asn2544Ser) c.7628A>G (p.Asn2543Ser) c.7574A>G (p.Asn2525Ser) c.7544A>G (p.Asn2515Ser) c.7499A>G (p.Asn2500Ser) c.7094A>G (p.Asn2365Ser) c.6452A>G (p.Asn2151Ser) c.3962A>G (p.Asn1321Ser) | gnomAD v4 |
10 | g.71800712A>T | CA377159966 | CDH23 | c.7439A>T (p.Asn2480Ile) c.1372A>T (n.1372A>T) c.1036A>T (n.1036A>T) c.7454A>T (p.Asn2485Ile) c.719A>T (p.Asn240Ile) n.975A>T c.7634A>T (p.Asn2545Ile) c.7568A>T (p.Asn2523Ile) c.7631A>T (p.Asn2544Ile) c.7628A>T (p.Asn2543Ile) c.7574A>T (p.Asn2525Ile) c.7544A>T (p.Asn2515Ile) c.7499A>T (p.Asn2500Ile) c.7094A>T (p.Asn2365Ile) c.6452A>T (p.Asn2151Ile) c.3962A>T (p.Asn1321Ile) | |
10 | g.71800713C>A | CA377159967 | CDH23 | c.7440C>A (p.Asn2480Lys) c.1373C>A (n.1373C>A) c.1037C>A (n.1037C>A) c.7455C>A (p.Asn2485Lys) c.720C>A (p.Asn240Lys) n.976C>A c.7635C>A (p.Asn2545Lys) c.7569C>A (p.Asn2523Lys) c.7632C>A (p.Asn2544Lys) c.7629C>A (p.Asn2543Lys) c.7575C>A (p.Asn2525Lys) c.7545C>A (p.Asn2515Lys) c.7500C>A (p.Asn2500Lys) c.7095C>A (p.Asn2365Lys) c.6453C>A (p.Asn2151Lys) c.3963C>A (p.Asn1321Lys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71800713C= | CA1918879414 | CDH23 | c.7440C= (p.Asn2480=) c.1373C= (n.1373C=) c.1037C= (n.1037C=) c.7455C= (p.Asn2485=) c.720C= (p.Asn240=) n.976C= c.7635C= (p.Asn2545=) c.7569C= (p.Asn2523=) c.7632C= (p.Asn2544=) c.7629C= (p.Asn2543=) c.7575C= (p.Asn2525=) c.7545C= (p.Asn2515=) c.7500C= (p.Asn2500=) c.7095C= (p.Asn2365=) c.6453C= (p.Asn2151=) c.3963C= (p.Asn1321=) | |
10 | g.71800713C>G | CA377159968 | CDH23 | c.7440C>G (p.Asn2480Lys) c.1373C>G (n.1373C>G) c.1037C>G (n.1037C>G) c.7455C>G (p.Asn2485Lys) c.720C>G (p.Asn240Lys) n.976C>G c.7635C>G (p.Asn2545Lys) c.7569C>G (p.Asn2523Lys) c.7632C>G (p.Asn2544Lys) c.7629C>G (p.Asn2543Lys) c.7575C>G (p.Asn2525Lys) c.7545C>G (p.Asn2515Lys) c.7500C>G (p.Asn2500Lys) c.7095C>G (p.Asn2365Lys) c.6453C>G (p.Asn2151Lys) c.3963C>G (p.Asn1321Lys) | |
10 | g.71800713C>T | CA470062282 | CDH23 | c.7440C>T (p.Asn2480=) c.1373C>T (n.1373C>T) c.1037C>T (n.1037C>T) c.7455C>T (p.Asn2485=) c.720C>T (p.Asn240=) n.976C>T c.7635C>T (p.Asn2545=) c.7569C>T (p.Asn2523=) c.7632C>T (p.Asn2544=) c.7629C>T (p.Asn2543=) c.7575C>T (p.Asn2525=) c.7545C>T (p.Asn2515=) c.7500C>T (p.Asn2500=) c.7095C>T (p.Asn2365=) c.6453C>T (p.Asn2151=) c.3963C>T (p.Asn1321=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71800714C>A | CA5546346 | CDH23 | c.7441C>A (p.Pro2481Thr) c.1374C>A (n.1374C>A) c.1038C>A (n.1038C>A) c.7456C>A (p.Pro2486Thr) c.721C>A (p.Pro241Thr) n.977C>A c.7636C>A (p.Pro2546Thr) c.7570C>A (p.Pro2524Thr) c.7633C>A (p.Pro2545Thr) c.7630C>A (p.Pro2544Thr) c.7576C>A (p.Pro2526Thr) c.7546C>A (p.Pro2516Thr) c.7501C>A (p.Pro2501Thr) c.7096C>A (p.Pro2366Thr) c.6454C>A (p.Pro2152Thr) c.3964C>A (p.Pro1322Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800714C= | CA1918879415 | CDH23 | c.7441C= (p.Pro2481=) c.1374C= (n.1374C=) c.1038C= (n.1038C=) c.7456C= (p.Pro2486=) c.721C= (p.Pro241=) n.977C= c.7636C= (p.Pro2546=) c.7570C= (p.Pro2524=) c.7633C= (p.Pro2545=) c.7630C= (p.Pro2544=) c.7576C= (p.Pro2526=) c.7546C= (p.Pro2516=) c.7501C= (p.Pro2501=) c.7096C= (p.Pro2366=) c.6454C= (p.Pro2152=) c.3964C= (p.Pro1322=) | |
10 | g.71800714C>G | CA377159969 | CDH23 | c.7441C>G (p.Pro2481Ala) c.1374C>G (n.1374C>G) c.1038C>G (n.1038C>G) c.7456C>G (p.Pro2486Ala) c.721C>G (p.Pro241Ala) n.977C>G c.7636C>G (p.Pro2546Ala) c.7570C>G (p.Pro2524Ala) c.7633C>G (p.Pro2545Ala) c.7630C>G (p.Pro2544Ala) c.7576C>G (p.Pro2526Ala) c.7546C>G (p.Pro2516Ala) c.7501C>G (p.Pro2501Ala) c.7096C>G (p.Pro2366Ala) c.6454C>G (p.Pro2152Ala) c.3964C>G (p.Pro1322Ala) | |
10 | g.71800714C>T | CA5546347 | CDH23 | c.7441C>T (p.Pro2481Ser) c.1374C>T (n.1374C>T) c.1038C>T (n.1038C>T) c.7456C>T (p.Pro2486Ser) c.721C>T (p.Pro241Ser) n.977C>T c.7636C>T (p.Pro2546Ser) c.7570C>T (p.Pro2524Ser) c.7633C>T (p.Pro2545Ser) c.7630C>T (p.Pro2544Ser) c.7576C>T (p.Pro2526Ser) c.7546C>T (p.Pro2516Ser) c.7501C>T (p.Pro2501Ser) c.7096C>T (p.Pro2366Ser) c.6454C>T (p.Pro2152Ser) c.3964C>T (p.Pro1322Ser) | dbSNP ExAC gnomAD v2 |
10 | g.71800715C>A | CA377159971 | CDH23 | c.7442C>A (p.Pro2481His) c.1375C>A (n.1375C>A) c.1039C>A (n.1039C>A) c.7457C>A (p.Pro2486His) c.722C>A (p.Pro241His) n.978C>A c.7637C>A (p.Pro2546His) c.7571C>A (p.Pro2524His) c.7634C>A (p.Pro2545His) c.7631C>A (p.Pro2544His) c.7577C>A (p.Pro2526His) c.7547C>A (p.Pro2516His) c.7502C>A (p.Pro2501His) c.7097C>A (p.Pro2366His) c.6455C>A (p.Pro2152His) c.3965C>A (p.Pro1322His) | |
10 | g.71800715C= | CA1918879416 | CDH23 | c.7442C= (p.Pro2481=) c.1375C= (n.1375C=) c.1039C= (n.1039C=) c.7457C= (p.Pro2486=) c.722C= (p.Pro241=) n.978C= c.7637C= (p.Pro2546=) c.7571C= (p.Pro2524=) c.7634C= (p.Pro2545=) c.7631C= (p.Pro2544=) c.7577C= (p.Pro2526=) c.7547C= (p.Pro2516=) c.7502C= (p.Pro2501=) c.7097C= (p.Pro2366=) c.6455C= (p.Pro2152=) c.3965C= (p.Pro1322=) | |
10 | g.71800715C>G | CA137567 | CDH23 | c.7442C>G (p.Pro2481Arg) c.1375C>G (n.1375C>G) c.1039C>G (n.1039C>G) c.7457C>G (p.Pro2486Arg) c.722C>G (p.Pro241Arg) n.978C>G c.7637C>G (p.Pro2546Arg) c.7571C>G (p.Pro2524Arg) c.7634C>G (p.Pro2545Arg) c.7631C>G (p.Pro2544Arg) c.7577C>G (p.Pro2526Arg) c.7547C>G (p.Pro2516Arg) c.7502C>G (p.Pro2501Arg) c.7097C>G (p.Pro2366Arg) c.6455C>G (p.Pro2152Arg) c.3965C>G (p.Pro1322Arg) | ClinVar dbSNP |
10 | g.71800715C>T | CA377159970 | CDH23 | c.7442C>T (p.Pro2481Leu) c.1375C>T (n.1375C>T) c.1039C>T (n.1039C>T) c.7457C>T (p.Pro2486Leu) c.722C>T (p.Pro241Leu) n.978C>T c.7637C>T (p.Pro2546Leu) c.7571C>T (p.Pro2524Leu) c.7634C>T (p.Pro2545Leu) c.7631C>T (p.Pro2544Leu) c.7577C>T (p.Pro2526Leu) c.7547C>T (p.Pro2516Leu) c.7502C>T (p.Pro2501Leu) c.7097C>T (p.Pro2366Leu) c.6455C>T (p.Pro2152Leu) c.3965C>T (p.Pro1322Leu) | ClinVar |
10 | g.71800716T>A | CA470062283 | CDH23 | c.7443T>A (p.Pro2481=) c.1376T>A (n.1376T>A) c.1040T>A (n.1040T>A) c.7458T>A (p.Pro2486=) c.723T>A (p.Pro241=) n.979T>A c.7638T>A (p.Pro2546=) c.7572T>A (p.Pro2524=) c.7635T>A (p.Pro2545=) c.7632T>A (p.Pro2544=) c.7578T>A (p.Pro2526=) c.7548T>A (p.Pro2516=) c.7503T>A (p.Pro2501=) c.7098T>A (p.Pro2366=) c.6456T>A (p.Pro2152=) c.3966T>A (p.Pro1322=) | |
10 | g.71800716T>C | CA470062284 | CDH23 | c.7443T>C (p.Pro2481=) c.1376T>C (n.1376T>C) c.1040T>C (n.1040T>C) c.7458T>C (p.Pro2486=) c.723T>C (p.Pro241=) n.979T>C c.7638T>C (p.Pro2546=) c.7572T>C (p.Pro2524=) c.7635T>C (p.Pro2545=) c.7632T>C (p.Pro2544=) c.7578T>C (p.Pro2526=) c.7548T>C (p.Pro2516=) c.7503T>C (p.Pro2501=) c.7098T>C (p.Pro2366=) c.6456T>C (p.Pro2152=) c.3966T>C (p.Pro1322=) | |
10 | g.71800716T>G | CA470062285 | CDH23 | c.7443T>G (p.Pro2481=) c.1376T>G (n.1376T>G) c.1040T>G (n.1040T>G) c.7458T>G (p.Pro2486=) c.723T>G (p.Pro241=) n.979T>G c.7638T>G (p.Pro2546=) c.7572T>G (p.Pro2524=) c.7635T>G (p.Pro2545=) c.7632T>G (p.Pro2544=) c.7578T>G (p.Pro2526=) c.7548T>G (p.Pro2516=) c.7503T>G (p.Pro2501=) c.7098T>G (p.Pro2366=) c.6456T>G (p.Pro2152=) c.3966T>G (p.Pro1322=) | |
10 | g.71800716T= | CA1918879417 | CDH23 | c.7443T= (p.Pro2481=) c.1376T= (n.1376T=) c.1040T= (n.1040T=) c.7458T= (p.Pro2486=) c.723T= (p.Pro241=) n.979T= c.7638T= (p.Pro2546=) c.7572T= (p.Pro2524=) c.7635T= (p.Pro2545=) c.7632T= (p.Pro2544=) c.7578T= (p.Pro2526=) c.7548T= (p.Pro2516=) c.7503T= (p.Pro2501=) c.7098T= (p.Pro2366=) c.6456T= (p.Pro2152=) c.3966T= (p.Pro1322=) | |
10 | g.71800717G>A | CA5546348 | CDH23 | c.7444G>A (p.Gly2482Arg) c.1377G>A (n.1377G>A) c.1041G>A (n.1041G>A) c.7459G>A (p.Gly2487Arg) c.724G>A (p.Gly242Arg) n.980G>A c.7639G>A (p.Gly2547Arg) c.7573G>A (p.Gly2525Arg) c.7636G>A (p.Gly2546Arg) c.7633G>A (p.Gly2545Arg) c.7579G>A (p.Gly2527Arg) c.7549G>A (p.Gly2517Arg) c.7504G>A (p.Gly2502Arg) c.7099G>A (p.Gly2367Arg) c.6457G>A (p.Gly2153Arg) c.3967G>A (p.Gly1323Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800717G>C | CA377159972 | CDH23 | c.7444G>C (p.Gly2482Arg) c.1377G>C (n.1377G>C) c.1041G>C (n.1041G>C) c.7459G>C (p.Gly2487Arg) c.724G>C (p.Gly242Arg) n.980G>C c.7639G>C (p.Gly2547Arg) c.7573G>C (p.Gly2525Arg) c.7636G>C (p.Gly2546Arg) c.7633G>C (p.Gly2545Arg) c.7579G>C (p.Gly2527Arg) c.7549G>C (p.Gly2517Arg) c.7504G>C (p.Gly2502Arg) c.7099G>C (p.Gly2367Arg) c.6457G>C (p.Gly2153Arg) c.3967G>C (p.Gly1323Arg) | |
10 | g.71800717G= | CA1918879418 | CDH23 | c.7444G= (p.Gly2482=) c.1377G= (n.1377G=) c.1041G= (n.1041G=) c.7459G= (p.Gly2487=) c.724G= (p.Gly242=) n.980G= c.7639G= (p.Gly2547=) c.7573G= (p.Gly2525=) c.7636G= (p.Gly2546=) c.7633G= (p.Gly2545=) c.7579G= (p.Gly2527=) c.7549G= (p.Gly2517=) c.7504G= (p.Gly2502=) c.7099G= (p.Gly2367=) c.6457G= (p.Gly2153=) c.3967G= (p.Gly1323=) | |
10 | g.71800717G>T | CA377159973 | CDH23 | c.7444G>T (p.Gly2482Trp) c.1377G>T (n.1377G>T) c.1041G>T (n.1041G>T) c.7459G>T (p.Gly2487Trp) c.724G>T (p.Gly242Trp) n.980G>T c.7639G>T (p.Gly2547Trp) c.7573G>T (p.Gly2525Trp) c.7636G>T (p.Gly2546Trp) c.7633G>T (p.Gly2545Trp) c.7579G>T (p.Gly2527Trp) c.7549G>T (p.Gly2517Trp) c.7504G>T (p.Gly2502Trp) c.7099G>T (p.Gly2367Trp) c.6457G>T (p.Gly2153Trp) c.3967G>T (p.Gly1323Trp) | |
10 | g.71800720dup | CA209471114 | CDH23 | c.7447dup (p.Asp2483GlyfsTer22) c.1380dup (n.1380dup) c.1044dup (n.1044dup) c.7462dup (p.Asp2488GlyfsTer22) c.727dup (p.Asp243GlyfsTer22) n.983dup c.7642dup (p.Asp2548GlyfsTer22) c.7576dup (p.Asp2526GlyfsTer22) c.7639dup (p.Asp2547GlyfsTer22) c.7636dup (p.Asp2546GlyfsTer22) c.7582dup (p.Asp2528GlyfsTer22) c.7552dup (p.Asp2518GlyfsTer22) c.7507dup (p.Asp2503GlyfsTer22) c.7102dup (p.Asp2368GlyfsTer22) c.6460dup (p.Asp2154GlyfsTer22) c.3970dup (p.Asp1324GlyfsTer22) | dbSNP |
10 | g.71800718G>A | CA377159974 | CDH23 | c.7445G>A (p.Gly2482Glu) c.1378G>A (n.1378G>A) c.1042G>A (n.1042G>A) c.7460G>A (p.Gly2487Glu) c.725G>A (p.Gly242Glu) n.981G>A c.7640G>A (p.Gly2547Glu) c.7574G>A (p.Gly2525Glu) c.7637G>A (p.Gly2546Glu) c.7634G>A (p.Gly2545Glu) c.7580G>A (p.Gly2527Glu) c.7550G>A (p.Gly2517Glu) c.7505G>A (p.Gly2502Glu) c.7100G>A (p.Gly2367Glu) c.6458G>A (p.Gly2153Glu) c.3968G>A (p.Gly1323Glu) | |
10 | g.71800718G>C | CA377159975 | CDH23 | c.7445G>C (p.Gly2482Ala) c.1378G>C (n.1378G>C) c.1042G>C (n.1042G>C) c.7460G>C (p.Gly2487Ala) c.725G>C (p.Gly242Ala) n.981G>C c.7640G>C (p.Gly2547Ala) c.7574G>C (p.Gly2525Ala) c.7637G>C (p.Gly2546Ala) c.7634G>C (p.Gly2545Ala) c.7580G>C (p.Gly2527Ala) c.7550G>C (p.Gly2517Ala) c.7505G>C (p.Gly2502Ala) c.7100G>C (p.Gly2367Ala) c.6458G>C (p.Gly2153Ala) c.3968G>C (p.Gly1323Ala) | |
10 | g.71800718G>T | CA377159976 | CDH23 | c.7445G>T (p.Gly2482Val) c.1378G>T (n.1378G>T) c.1042G>T (n.1042G>T) c.7460G>T (p.Gly2487Val) c.725G>T (p.Gly242Val) n.981G>T c.7640G>T (p.Gly2547Val) c.7574G>T (p.Gly2525Val) c.7637G>T (p.Gly2546Val) c.7634G>T (p.Gly2545Val) c.7580G>T (p.Gly2527Val) c.7550G>T (p.Gly2517Val) c.7505G>T (p.Gly2502Val) c.7100G>T (p.Gly2367Val) c.6458G>T (p.Gly2153Val) c.3968G>T (p.Gly1323Val) | |
10 | g.71800719G>A | CA470062286 | CDH23 | c.7446G>A (p.Gly2482=) c.1379G>A (n.1379G>A) c.1043G>A (n.1043G>A) c.7461G>A (p.Gly2487=) c.726G>A (p.Gly242=) n.982G>A c.7641G>A (p.Gly2547=) c.7575G>A (p.Gly2525=) c.7638G>A (p.Gly2546=) c.7635G>A (p.Gly2545=) c.7581G>A (p.Gly2527=) c.7551G>A (p.Gly2517=) c.7506G>A (p.Gly2502=) c.7101G>A (p.Gly2367=) c.6459G>A (p.Gly2153=) c.3969G>A (p.Gly1323=) | gnomAD v4 |
10 | g.71800719G>C | CA470062287 | CDH23 | c.7446G>C (p.Gly2482=) c.1379G>C (n.1379G>C) c.1043G>C (n.1043G>C) c.7461G>C (p.Gly2487=) c.726G>C (p.Gly242=) n.982G>C c.7641G>C (p.Gly2547=) c.7575G>C (p.Gly2525=) c.7638G>C (p.Gly2546=) c.7635G>C (p.Gly2545=) c.7581G>C (p.Gly2527=) c.7551G>C (p.Gly2517=) c.7506G>C (p.Gly2502=) c.7101G>C (p.Gly2367=) c.6459G>C (p.Gly2153=) c.3969G>C (p.Gly1323=) | |
10 | g.71800719G>T | CA470062288 | CDH23 | c.7446G>T (p.Gly2482=) c.1379G>T (n.1379G>T) c.1043G>T (n.1043G>T) c.7461G>T (p.Gly2487=) c.726G>T (p.Gly242=) n.982G>T c.7641G>T (p.Gly2547=) c.7575G>T (p.Gly2525=) c.7638G>T (p.Gly2546=) c.7635G>T (p.Gly2545=) c.7581G>T (p.Gly2527=) c.7551G>T (p.Gly2517=) c.7506G>T (p.Gly2502=) c.7101G>T (p.Gly2367=) c.6459G>T (p.Gly2153=) c.3969G>T (p.Gly1323=) | |
10 | g.71800720G>A | CA377159977 | CDH23 | c.7447G>A (p.Asp2483Asn) c.1380G>A (n.1380G>A) c.1044G>A (n.1044G>A) c.7462G>A (p.Asp2488Asn) c.727G>A (p.Asp243Asn) n.983G>A c.7642G>A (p.Asp2548Asn) c.7576G>A (p.Asp2526Asn) c.7639G>A (p.Asp2547Asn) c.7636G>A (p.Asp2546Asn) c.7582G>A (p.Asp2528Asn) c.7552G>A (p.Asp2518Asn) c.7507G>A (p.Asp2503Asn) c.7102G>A (p.Asp2368Asn) c.6460G>A (p.Asp2154Asn) c.3970G>A (p.Asp1324Asn) | |
10 | g.71800720G>C | CA377159978 | CDH23 | c.7447G>C (p.Asp2483His) c.1380G>C (n.1380G>C) c.1044G>C (n.1044G>C) c.7462G>C (p.Asp2488His) c.727G>C (p.Asp243His) n.983G>C c.7642G>C (p.Asp2548His) c.7576G>C (p.Asp2526His) c.7639G>C (p.Asp2547His) c.7636G>C (p.Asp2546His) c.7582G>C (p.Asp2528His) c.7552G>C (p.Asp2518His) c.7507G>C (p.Asp2503His) c.7102G>C (p.Asp2368His) c.6460G>C (p.Asp2154His) c.3970G>C (p.Asp1324His) | |
10 | g.71800720G>T | CA377159979 | CDH23 | c.7447G>T (p.Asp2483Tyr) c.1380G>T (n.1380G>T) c.1044G>T (n.1044G>T) c.7462G>T (p.Asp2488Tyr) c.727G>T (p.Asp243Tyr) n.983G>T c.7642G>T (p.Asp2548Tyr) c.7576G>T (p.Asp2526Tyr) c.7639G>T (p.Asp2547Tyr) c.7636G>T (p.Asp2546Tyr) c.7582G>T (p.Asp2528Tyr) c.7552G>T (p.Asp2518Tyr) c.7507G>T (p.Asp2503Tyr) c.7102G>T (p.Asp2368Tyr) c.6460G>T (p.Asp2154Tyr) c.3970G>T (p.Asp1324Tyr) | gnomAD v4 |
10 | g.71800721A>C | CA377159980 | CDH23 | c.7448A>C (p.Asp2483Ala) c.1381A>C (n.1381A>C) c.1045A>C (n.1045A>C) c.7463A>C (p.Asp2488Ala) c.728A>C (p.Asp243Ala) n.984A>C c.7643A>C (p.Asp2548Ala) c.7577A>C (p.Asp2526Ala) c.7640A>C (p.Asp2547Ala) c.7637A>C (p.Asp2546Ala) c.7583A>C (p.Asp2528Ala) c.7553A>C (p.Asp2518Ala) c.7508A>C (p.Asp2503Ala) c.7103A>C (p.Asp2368Ala) c.6461A>C (p.Asp2154Ala) c.3971A>C (p.Asp1324Ala) | |
10 | g.71800721A>G | CA377159981 | CDH23 | c.7448A>G (p.Asp2483Gly) c.1381A>G (n.1381A>G) c.1045A>G (n.1045A>G) c.7463A>G (p.Asp2488Gly) c.728A>G (p.Asp243Gly) n.984A>G c.7643A>G (p.Asp2548Gly) c.7577A>G (p.Asp2526Gly) c.7640A>G (p.Asp2547Gly) c.7637A>G (p.Asp2546Gly) c.7583A>G (p.Asp2528Gly) c.7553A>G (p.Asp2518Gly) c.7508A>G (p.Asp2503Gly) c.7103A>G (p.Asp2368Gly) c.6461A>G (p.Asp2154Gly) c.3971A>G (p.Asp1324Gly) | |
10 | g.71800721A>T | CA377159982 | CDH23 | c.7448A>T (p.Asp2483Val) c.1381A>T (n.1381A>T) c.1045A>T (n.1045A>T) c.7463A>T (p.Asp2488Val) c.728A>T (p.Asp243Val) n.984A>T c.7643A>T (p.Asp2548Val) c.7577A>T (p.Asp2526Val) c.7640A>T (p.Asp2547Val) c.7637A>T (p.Asp2546Val) c.7583A>T (p.Asp2528Val) c.7553A>T (p.Asp2518Val) c.7508A>T (p.Asp2503Val) c.7103A>T (p.Asp2368Val) c.6461A>T (p.Asp2154Val) c.3971A>T (p.Asp1324Val) | |
10 | g.71800722T>A | CA5546349 | CDH23 | c.7449T>A (p.Asp2483Glu) c.1382T>A (n.1382T>A) c.1046T>A (n.1046T>A) c.7464T>A (p.Asp2488Glu) c.729T>A (p.Asp243Glu) n.985T>A c.7644T>A (p.Asp2548Glu) c.7578T>A (p.Asp2526Glu) c.7641T>A (p.Asp2547Glu) c.7638T>A (p.Asp2546Glu) c.7584T>A (p.Asp2528Glu) c.7554T>A (p.Asp2518Glu) c.7509T>A (p.Asp2503Glu) c.7104T>A (p.Asp2368Glu) c.6462T>A (p.Asp2154Glu) c.3972T>A (p.Asp1324Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71800722T>C | CA470062289 | CDH23 | c.7449T>C (p.Asp2483=) c.1382T>C (n.1382T>C) c.1046T>C (n.1046T>C) c.7464T>C (p.Asp2488=) c.729T>C (p.Asp243=) n.985T>C c.7644T>C (p.Asp2548=) c.7578T>C (p.Asp2526=) c.7641T>C (p.Asp2547=) c.7638T>C (p.Asp2546=) c.7584T>C (p.Asp2528=) c.7554T>C (p.Asp2518=) c.7509T>C (p.Asp2503=) c.7104T>C (p.Asp2368=) c.6462T>C (p.Asp2154=) c.3972T>C (p.Asp1324=) | ClinVar dbSNP gnomAD v4 |
10 | g.71800722T>G | CA377159983 | CDH23 | c.7449T>G (p.Asp2483Glu) c.1382T>G (n.1382T>G) c.1046T>G (n.1046T>G) c.7464T>G (p.Asp2488Glu) c.729T>G (p.Asp243Glu) n.985T>G c.7644T>G (p.Asp2548Glu) c.7578T>G (p.Asp2526Glu) c.7641T>G (p.Asp2547Glu) c.7638T>G (p.Asp2546Glu) c.7584T>G (p.Asp2528Glu) c.7554T>G (p.Asp2518Glu) c.7509T>G (p.Asp2503Glu) c.7104T>G (p.Asp2368Glu) c.6462T>G (p.Asp2154Glu) c.3972T>G (p.Asp1324Glu) | |
10 | g.71800722T= | CA1918879419 | CDH23 | c.7449T= (p.Asp2483=) c.1382T= (n.1382T=) c.1046T= (n.1046T=) c.7464T= (p.Asp2488=) c.729T= (p.Asp243=) n.985T= c.7644T= (p.Asp2548=) c.7578T= (p.Asp2526=) c.7641T= (p.Asp2547=) c.7638T= (p.Asp2546=) c.7584T= (p.Asp2528=) c.7554T= (p.Asp2518=) c.7509T= (p.Asp2503=) c.7104T= (p.Asp2368=) c.6462T= (p.Asp2154=) c.3972T= (p.Asp1324=) | |
10 | g.71800723G>A | CA5546350 | CDH23 | c.7450G>A (p.Val2484Ile) c.1383G>A (n.1383G>A) c.1047G>A (n.1047G>A) c.7465G>A (p.Val2489Ile) c.730G>A (p.Val244Ile) n.986G>A c.7645G>A (p.Val2549Ile) c.7579G>A (p.Val2527Ile) c.7642G>A (p.Val2548Ile) c.7639G>A (p.Val2547Ile) c.7585G>A (p.Val2529Ile) c.7555G>A (p.Val2519Ile) c.7510G>A (p.Val2504Ile) c.7105G>A (p.Val2369Ile) c.6463G>A (p.Val2155Ile) c.3973G>A (p.Val1325Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800723G>C | CA377159985 | CDH23 | c.7450G>C (p.Val2484Leu) c.1383G>C (n.1383G>C) c.1047G>C (n.1047G>C) c.7465G>C (p.Val2489Leu) c.730G>C (p.Val244Leu) n.986G>C c.7645G>C (p.Val2549Leu) c.7579G>C (p.Val2527Leu) c.7642G>C (p.Val2548Leu) c.7639G>C (p.Val2547Leu) c.7585G>C (p.Val2529Leu) c.7555G>C (p.Val2519Leu) c.7510G>C (p.Val2504Leu) c.7105G>C (p.Val2369Leu) c.6463G>C (p.Val2155Leu) c.3973G>C (p.Val1325Leu) | |
10 | g.71800723G= | CA1918879420 | CDH23 | c.7450G= (p.Val2484=) c.1383G= (n.1383G=) c.1047G= (n.1047G=) c.7465G= (p.Val2489=) c.730G= (p.Val244=) n.986G= c.7645G= (p.Val2549=) c.7579G= (p.Val2527=) c.7642G= (p.Val2548=) c.7639G= (p.Val2547=) c.7585G= (p.Val2529=) c.7555G= (p.Val2519=) c.7510G= (p.Val2504=) c.7105G= (p.Val2369=) c.6463G= (p.Val2155=) c.3973G= (p.Val1325=) | |
10 | g.71800723G>T | CA377159984 | CDH23 | c.7450G>T (p.Val2484Leu) c.1383G>T (n.1383G>T) c.1047G>T (n.1047G>T) c.7465G>T (p.Val2489Leu) c.730G>T (p.Val244Leu) n.986G>T c.7645G>T (p.Val2549Leu) c.7579G>T (p.Val2527Leu) c.7642G>T (p.Val2548Leu) c.7639G>T (p.Val2547Leu) c.7585G>T (p.Val2529Leu) c.7555G>T (p.Val2519Leu) c.7510G>T (p.Val2504Leu) c.7105G>T (p.Val2369Leu) c.6463G>T (p.Val2155Leu) c.3973G>T (p.Val1325Leu) | |
10 | g.71800724T>A | CA377159986 | CDH23 | c.7451T>A (p.Val2484Glu) c.1384T>A (n.1384T>A) c.1048T>A (n.1048T>A) c.7466T>A (p.Val2489Glu) c.731T>A (p.Val244Glu) n.987T>A c.7646T>A (p.Val2549Glu) c.7580T>A (p.Val2527Glu) c.7643T>A (p.Val2548Glu) c.7640T>A (p.Val2547Glu) c.7586T>A (p.Val2529Glu) c.7556T>A (p.Val2519Glu) c.7511T>A (p.Val2504Glu) c.7106T>A (p.Val2369Glu) c.6464T>A (p.Val2155Glu) c.3974T>A (p.Val1325Glu) | |
10 | g.71800724T>C | CA377159987 | CDH23 | c.7451T>C (p.Val2484Ala) c.1384T>C (n.1384T>C) c.1048T>C (n.1048T>C) c.7466T>C (p.Val2489Ala) c.731T>C (p.Val244Ala) n.987T>C c.7646T>C (p.Val2549Ala) c.7580T>C (p.Val2527Ala) c.7643T>C (p.Val2548Ala) c.7640T>C (p.Val2547Ala) c.7586T>C (p.Val2529Ala) c.7556T>C (p.Val2519Ala) c.7511T>C (p.Val2504Ala) c.7106T>C (p.Val2369Ala) c.6464T>C (p.Val2155Ala) c.3974T>C (p.Val1325Ala) | dbSNP gnomAD v4 |
10 | g.71800724T>G | CA377159988 | CDH23 | c.7451T>G (p.Val2484Gly) c.1384T>G (n.1384T>G) c.1048T>G (n.1048T>G) c.7466T>G (p.Val2489Gly) c.731T>G (p.Val244Gly) n.987T>G c.7646T>G (p.Val2549Gly) c.7580T>G (p.Val2527Gly) c.7643T>G (p.Val2548Gly) c.7640T>G (p.Val2547Gly) c.7586T>G (p.Val2529Gly) c.7556T>G (p.Val2519Gly) c.7511T>G (p.Val2504Gly) c.7106T>G (p.Val2369Gly) c.6464T>G (p.Val2155Gly) c.3974T>G (p.Val1325Gly) | |
10 | g.71800724T= | CA1918879421 | CDH23 | c.7451T= (p.Val2484=) c.1384T= (n.1384T=) c.1048T= (n.1048T=) c.7466T= (p.Val2489=) c.731T= (p.Val244=) n.987T= c.7646T= (p.Val2549=) c.7580T= (p.Val2527=) c.7643T= (p.Val2548=) c.7640T= (p.Val2547=) c.7586T= (p.Val2529=) c.7556T= (p.Val2519=) c.7511T= (p.Val2504=) c.7106T= (p.Val2369=) c.6464T= (p.Val2155=) c.3974T= (p.Val1325=) | |
10 | g.71800725A= | CA1918879422 | CDH23 | c.7452A= (p.Val2484=) c.1385A= (n.1385A=) c.1049A= (n.1049A=) c.7467A= (p.Val2489=) c.732A= (p.Val244=) n.988A= c.7647A= (p.Val2549=) c.7581A= (p.Val2527=) c.7644A= (p.Val2548=) c.7641A= (p.Val2547=) c.7587A= (p.Val2529=) c.7557A= (p.Val2519=) c.7512A= (p.Val2504=) c.7107A= (p.Val2369=) c.6465A= (p.Val2155=) c.3975A= (p.Val1325=) | |
10 | g.71800725A>C | CA470062292 | CDH23 | c.7452A>C (p.Val2484=) c.1385A>C (n.1385A>C) c.1049A>C (n.1049A>C) c.7467A>C (p.Val2489=) c.732A>C (p.Val244=) n.988A>C c.7647A>C (p.Val2549=) c.7581A>C (p.Val2527=) c.7644A>C (p.Val2548=) c.7641A>C (p.Val2547=) c.7587A>C (p.Val2529=) c.7557A>C (p.Val2519=) c.7512A>C (p.Val2504=) c.7107A>C (p.Val2369=) c.6465A>C (p.Val2155=) c.3975A>C (p.Val1325=) | |
10 | g.71800725A>G | CA470062290 | CDH23 | c.7452A>G (p.Val2484=) c.1385A>G (n.1385A>G) c.1049A>G (n.1049A>G) c.7467A>G (p.Val2489=) c.732A>G (p.Val244=) n.988A>G c.7647A>G (p.Val2549=) c.7581A>G (p.Val2527=) c.7644A>G (p.Val2548=) c.7641A>G (p.Val2547=) c.7587A>G (p.Val2529=) c.7557A>G (p.Val2519=) c.7512A>G (p.Val2504=) c.7107A>G (p.Val2369=) c.6465A>G (p.Val2155=) c.3975A>G (p.Val1325=) | ClinVar dbSNP |
10 | g.71800725A>T | CA470062291 | CDH23 | c.7452A>T (p.Val2484=) c.1385A>T (n.1385A>T) c.1049A>T (n.1049A>T) c.7467A>T (p.Val2489=) c.732A>T (p.Val244=) n.988A>T c.7647A>T (p.Val2549=) c.7581A>T (p.Val2527=) c.7644A>T (p.Val2548=) c.7641A>T (p.Val2547=) c.7587A>T (p.Val2529=) c.7557A>T (p.Val2519=) c.7512A>T (p.Val2504=) c.7107A>T (p.Val2369=) c.6465A>T (p.Val2155=) c.3975A>T (p.Val1325=) | |
10 | g.71800726G>A | CA377159989 | CDH23 | c.7453G>A (p.Ala2485Thr) c.1386G>A (n.1386G>A) c.1050G>A (n.1050G>A) c.7468G>A (p.Ala2490Thr) c.733G>A (p.Ala245Thr) n.989G>A c.7648G>A (p.Ala2550Thr) c.7582G>A (p.Ala2528Thr) c.7645G>A (p.Ala2549Thr) c.7642G>A (p.Ala2548Thr) c.7588G>A (p.Ala2530Thr) c.7558G>A (p.Ala2520Thr) c.7513G>A (p.Ala2505Thr) c.7108G>A (p.Ala2370Thr) c.6466G>A (p.Ala2156Thr) c.3976G>A (p.Ala1326Thr) | gnomAD v4 |
10 | g.71800726G>C | CA377159990 | CDH23 | c.7453G>C (p.Ala2485Pro) c.1386G>C (n.1386G>C) c.1050G>C (n.1050G>C) c.7468G>C (p.Ala2490Pro) c.733G>C (p.Ala245Pro) n.989G>C c.7648G>C (p.Ala2550Pro) c.7582G>C (p.Ala2528Pro) c.7645G>C (p.Ala2549Pro) c.7642G>C (p.Ala2548Pro) c.7588G>C (p.Ala2530Pro) c.7558G>C (p.Ala2520Pro) c.7513G>C (p.Ala2505Pro) c.7108G>C (p.Ala2370Pro) c.6466G>C (p.Ala2156Pro) c.3976G>C (p.Ala1326Pro) | |
10 | g.71800726G>T | CA377159991 | CDH23 | c.7453G>T (p.Ala2485Ser) c.1386G>T (n.1386G>T) c.1050G>T (n.1050G>T) c.7468G>T (p.Ala2490Ser) c.733G>T (p.Ala245Ser) n.989G>T c.7648G>T (p.Ala2550Ser) c.7582G>T (p.Ala2528Ser) c.7645G>T (p.Ala2549Ser) c.7642G>T (p.Ala2548Ser) c.7588G>T (p.Ala2530Ser) c.7558G>T (p.Ala2520Ser) c.7513G>T (p.Ala2505Ser) c.7108G>T (p.Ala2370Ser) c.6466G>T (p.Ala2156Ser) c.3976G>T (p.Ala1326Ser) | |
10 | g.71800727C>A | CA377159992 | CDH23 | c.7454C>A (p.Ala2485Asp) c.1387C>A (n.1387C>A) c.1051C>A (n.1051C>A) c.7469C>A (p.Ala2490Asp) c.734C>A (p.Ala245Asp) n.990C>A c.7649C>A (p.Ala2550Asp) c.7583C>A (p.Ala2528Asp) c.7646C>A (p.Ala2549Asp) c.7643C>A (p.Ala2548Asp) c.7589C>A (p.Ala2530Asp) c.7559C>A (p.Ala2520Asp) c.7514C>A (p.Ala2505Asp) c.7109C>A (p.Ala2370Asp) c.6467C>A (p.Ala2156Asp) c.3977C>A (p.Ala1326Asp) | |
10 | g.71800727C>G | CA377159993 | CDH23 | c.7454C>G (p.Ala2485Gly) c.1387C>G (n.1387C>G) c.1051C>G (n.1051C>G) c.7469C>G (p.Ala2490Gly) c.734C>G (p.Ala245Gly) n.990C>G c.7649C>G (p.Ala2550Gly) c.7583C>G (p.Ala2528Gly) c.7646C>G (p.Ala2549Gly) c.7643C>G (p.Ala2548Gly) c.7589C>G (p.Ala2530Gly) c.7559C>G (p.Ala2520Gly) c.7514C>G (p.Ala2505Gly) c.7109C>G (p.Ala2370Gly) c.6467C>G (p.Ala2156Gly) c.3977C>G (p.Ala1326Gly) | |
10 | g.71800727C>T | CA377159994 | CDH23 | c.7454C>T (p.Ala2485Val) c.1387C>T (n.1387C>T) c.1051C>T (n.1051C>T) c.7469C>T (p.Ala2490Val) c.734C>T (p.Ala245Val) n.990C>T c.7649C>T (p.Ala2550Val) c.7583C>T (p.Ala2528Val) c.7646C>T (p.Ala2549Val) c.7643C>T (p.Ala2548Val) c.7589C>T (p.Ala2530Val) c.7559C>T (p.Ala2520Val) c.7514C>T (p.Ala2505Val) c.7109C>T (p.Ala2370Val) c.6467C>T (p.Ala2156Val) c.3977C>T (p.Ala1326Val) | |
10 | g.71800728C>A | CA470062293 | CDH23 | c.7455C>A (p.Ala2485=) c.1388C>A (n.1388C>A) c.1052C>A (n.1052C>A) c.7470C>A (p.Ala2490=) c.735C>A (p.Ala245=) n.991C>A c.7650C>A (p.Ala2550=) c.7584C>A (p.Ala2528=) c.7647C>A (p.Ala2549=) c.7644C>A (p.Ala2548=) c.7590C>A (p.Ala2530=) c.7560C>A (p.Ala2520=) c.7515C>A (p.Ala2505=) c.7110C>A (p.Ala2370=) c.6468C>A (p.Ala2156=) c.3978C>A (p.Ala1326=) | dbSNP |
10 | g.71800728C= | CA1918879423 | CDH23 | c.7455C= (p.Ala2485=) c.1388C= (n.1388C=) c.1052C= (n.1052C=) c.7470C= (p.Ala2490=) c.735C= (p.Ala245=) n.991C= c.7650C= (p.Ala2550=) c.7584C= (p.Ala2528=) c.7647C= (p.Ala2549=) c.7644C= (p.Ala2548=) c.7590C= (p.Ala2530=) c.7560C= (p.Ala2520=) c.7515C= (p.Ala2505=) c.7110C= (p.Ala2370=) c.6468C= (p.Ala2156=) c.3978C= (p.Ala1326=) | |
10 | g.71800728C>G | CA470062294 | CDH23 | c.7455C>G (p.Ala2485=) c.1388C>G (n.1388C>G) c.1052C>G (n.1052C>G) c.7470C>G (p.Ala2490=) c.735C>G (p.Ala245=) n.991C>G c.7650C>G (p.Ala2550=) c.7584C>G (p.Ala2528=) c.7647C>G (p.Ala2549=) c.7644C>G (p.Ala2548=) c.7590C>G (p.Ala2530=) c.7560C>G (p.Ala2520=) c.7515C>G (p.Ala2505=) c.7110C>G (p.Ala2370=) c.6468C>G (p.Ala2156=) c.3978C>G (p.Ala1326=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71800728C>T | CA5546351 | CDH23 | c.7455C>T (p.Ala2485=) c.1388C>T (n.1388C>T) c.1052C>T (n.1052C>T) c.7470C>T (p.Ala2490=) c.735C>T (p.Ala245=) n.991C>T c.7650C>T (p.Ala2550=) c.7584C>T (p.Ala2528=) c.7647C>T (p.Ala2549=) c.7644C>T (p.Ala2548=) c.7590C>T (p.Ala2530=) c.7560C>T (p.Ala2520=) c.7515C>T (p.Ala2505=) c.7110C>T (p.Ala2370=) c.6468C>T (p.Ala2156=) c.3978C>T (p.Ala1326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800729A>C | CA377159995 | CDH23 | c.7456A>C (p.Ser2486Arg) c.1389A>C (n.1389A>C) c.1053A>C (n.1053A>C) c.7471A>C (p.Ser2491Arg) c.736A>C (p.Ser246Arg) n.992A>C c.7651A>C (p.Ser2551Arg) c.7585A>C (p.Ser2529Arg) c.7648A>C (p.Ser2550Arg) c.7645A>C (p.Ser2549Arg) c.7591A>C (p.Ser2531Arg) c.7561A>C (p.Ser2521Arg) c.7516A>C (p.Ser2506Arg) c.7111A>C (p.Ser2371Arg) c.6469A>C (p.Ser2157Arg) c.3979A>C (p.Ser1327Arg) | |
10 | g.71800729A>G | CA377159996 | CDH23 | c.7456A>G (p.Ser2486Gly) c.1389A>G (n.1389A>G) c.1053A>G (n.1053A>G) c.7471A>G (p.Ser2491Gly) c.736A>G (p.Ser246Gly) n.992A>G c.7651A>G (p.Ser2551Gly) c.7585A>G (p.Ser2529Gly) c.7648A>G (p.Ser2550Gly) c.7645A>G (p.Ser2549Gly) c.7591A>G (p.Ser2531Gly) c.7561A>G (p.Ser2521Gly) c.7516A>G (p.Ser2506Gly) c.7111A>G (p.Ser2371Gly) c.6469A>G (p.Ser2157Gly) c.3979A>G (p.Ser1327Gly) | |
10 | g.71800729A>T | CA377159997 | CDH23 | c.7456A>T (p.Ser2486Cys) c.1389A>T (n.1389A>T) c.1053A>T (n.1053A>T) c.7471A>T (p.Ser2491Cys) c.736A>T (p.Ser246Cys) n.992A>T c.7651A>T (p.Ser2551Cys) c.7585A>T (p.Ser2529Cys) c.7648A>T (p.Ser2550Cys) c.7645A>T (p.Ser2549Cys) c.7591A>T (p.Ser2531Cys) c.7561A>T (p.Ser2521Cys) c.7516A>T (p.Ser2506Cys) c.7111A>T (p.Ser2371Cys) c.6469A>T (p.Ser2157Cys) c.3979A>T (p.Ser1327Cys) | |
10 | g.71800730G>A | CA377160000 | CDH23 | c.7457G>A (p.Ser2486Asn) c.1390G>A (n.1390G>A) c.1054G>A (n.1054G>A) c.7472G>A (p.Ser2491Asn) c.737G>A (p.Ser246Asn) n.993G>A c.7652G>A (p.Ser2551Asn) c.7586G>A (p.Ser2529Asn) c.7649G>A (p.Ser2550Asn) c.7646G>A (p.Ser2549Asn) c.7592G>A (p.Ser2531Asn) c.7562G>A (p.Ser2521Asn) c.7517G>A (p.Ser2506Asn) c.7112G>A (p.Ser2371Asn) c.6470G>A (p.Ser2157Asn) c.3980G>A (p.Ser1327Asn) | dbSNP |
10 | g.71800730G>C | CA377159998 | CDH23 | c.7457G>C (p.Ser2486Thr) c.1390G>C (n.1390G>C) c.1054G>C (n.1054G>C) c.7472G>C (p.Ser2491Thr) c.737G>C (p.Ser246Thr) n.993G>C c.7652G>C (p.Ser2551Thr) c.7586G>C (p.Ser2529Thr) c.7649G>C (p.Ser2550Thr) c.7646G>C (p.Ser2549Thr) c.7592G>C (p.Ser2531Thr) c.7562G>C (p.Ser2521Thr) c.7517G>C (p.Ser2506Thr) c.7112G>C (p.Ser2371Thr) c.6470G>C (p.Ser2157Thr) c.3980G>C (p.Ser1327Thr) | |
10 | g.71800730G>T | CA377159999 | CDH23 | c.7457G>T (p.Ser2486Ile) c.1390G>T (n.1390G>T) c.1054G>T (n.1054G>T) c.7472G>T (p.Ser2491Ile) c.737G>T (p.Ser246Ile) n.993G>T c.7652G>T (p.Ser2551Ile) c.7586G>T (p.Ser2529Ile) c.7649G>T (p.Ser2550Ile) c.7646G>T (p.Ser2549Ile) c.7592G>T (p.Ser2531Ile) c.7562G>T (p.Ser2521Ile) c.7517G>T (p.Ser2506Ile) c.7112G>T (p.Ser2371Ile) c.6470G>T (p.Ser2157Ile) c.3980G>T (p.Ser1327Ile) | |
10 | g.71800731C>A | CA209471159 | CDH23 | c.7458C>A (p.Ser2486Arg) c.1391C>A (n.1391C>A) c.1055C>A (n.1055C>A) c.7473C>A (p.Ser2491Arg) c.738C>A (p.Ser246Arg) n.994C>A c.7653C>A (p.Ser2551Arg) c.7587C>A (p.Ser2529Arg) c.7650C>A (p.Ser2550Arg) c.7647C>A (p.Ser2549Arg) c.7593C>A (p.Ser2531Arg) c.7563C>A (p.Ser2521Arg) c.7518C>A (p.Ser2506Arg) c.7113C>A (p.Ser2371Arg) c.6471C>A (p.Ser2157Arg) c.3981C>A (p.Ser1327Arg) | dbSNP |
10 | g.71800731C= | CA1918879424 | CDH23 | c.7458C= (p.Ser2486=) c.1391C= (n.1391C=) c.1055C= (n.1055C=) c.7473C= (p.Ser2491=) c.738C= (p.Ser246=) n.994C= c.7653C= (p.Ser2551=) c.7587C= (p.Ser2529=) c.7650C= (p.Ser2550=) c.7647C= (p.Ser2549=) c.7593C= (p.Ser2531=) c.7563C= (p.Ser2521=) c.7518C= (p.Ser2506=) c.7113C= (p.Ser2371=) c.6471C= (p.Ser2157=) c.3981C= (p.Ser1327=) | |
10 | g.71800731C>G | CA377160001 | CDH23 | c.7458C>G (p.Ser2486Arg) c.1391C>G (n.1391C>G) c.1055C>G (n.1055C>G) c.7473C>G (p.Ser2491Arg) c.738C>G (p.Ser246Arg) n.994C>G c.7653C>G (p.Ser2551Arg) c.7587C>G (p.Ser2529Arg) c.7650C>G (p.Ser2550Arg) c.7647C>G (p.Ser2549Arg) c.7593C>G (p.Ser2531Arg) c.7563C>G (p.Ser2521Arg) c.7518C>G (p.Ser2506Arg) c.7113C>G (p.Ser2371Arg) c.6471C>G (p.Ser2157Arg) c.3981C>G (p.Ser1327Arg) | COSMIC |
10 | g.71800731C>T | CA470062295 | CDH23 | c.7458C>T (p.Ser2486=) c.1391C>T (n.1391C>T) c.1055C>T (n.1055C>T) c.7473C>T (p.Ser2491=) c.738C>T (p.Ser246=) n.994C>T c.7653C>T (p.Ser2551=) c.7587C>T (p.Ser2529=) c.7650C>T (p.Ser2550=) c.7647C>T (p.Ser2549=) c.7593C>T (p.Ser2531=) c.7563C>T (p.Ser2521=) c.7518C>T (p.Ser2506=) c.7113C>T (p.Ser2371=) c.6471C>T (p.Ser2157=) c.3981C>T (p.Ser1327=) | |
10 | g.71800732A>C | CA377160002 | CDH23 | c.7459A>C (p.Asn2487His) c.1392A>C (n.1392A>C) c.1056A>C (n.1056A>C) c.7474A>C (p.Asn2492His) c.739A>C (p.Asn247His) n.995A>C c.7654A>C (p.Asn2552His) c.7588A>C (p.Asn2530His) c.7651A>C (p.Asn2551His) c.7648A>C (p.Asn2550His) c.7594A>C (p.Asn2532His) c.7564A>C (p.Asn2522His) c.7519A>C (p.Asn2507His) c.7114A>C (p.Asn2372His) c.6472A>C (p.Asn2158His) c.3982A>C (p.Asn1328His) | |
10 | g.71800732A>G | CA377160003 | CDH23 | c.7459A>G (p.Asn2487Asp) c.1392A>G (n.1392A>G) c.1056A>G (n.1056A>G) c.7474A>G (p.Asn2492Asp) c.739A>G (p.Asn247Asp) n.995A>G c.7654A>G (p.Asn2552Asp) c.7588A>G (p.Asn2530Asp) c.7651A>G (p.Asn2551Asp) c.7648A>G (p.Asn2550Asp) c.7594A>G (p.Asn2532Asp) c.7564A>G (p.Asn2522Asp) c.7519A>G (p.Asn2507Asp) c.7114A>G (p.Asn2372Asp) c.6472A>G (p.Asn2158Asp) c.3982A>G (p.Asn1328Asp) | |
10 | g.71800732A>T | CA377160004 | CDH23 | c.7459A>T (p.Asn2487Tyr) c.1392A>T (n.1392A>T) c.1056A>T (n.1056A>T) c.7474A>T (p.Asn2492Tyr) c.739A>T (p.Asn247Tyr) n.995A>T c.7654A>T (p.Asn2552Tyr) c.7588A>T (p.Asn2530Tyr) c.7651A>T (p.Asn2551Tyr) c.7648A>T (p.Asn2550Tyr) c.7594A>T (p.Asn2532Tyr) c.7564A>T (p.Asn2522Tyr) c.7519A>T (p.Asn2507Tyr) c.7114A>T (p.Asn2372Tyr) c.6472A>T (p.Asn2158Tyr) c.3982A>T (p.Asn1328Tyr) | |
10 | g.71800733A>C | CA377160005 | CDH23 | c.7460A>C (p.Asn2487Thr) c.1393A>C (n.1393A>C) c.1057A>C (n.1057A>C) c.7475A>C (p.Asn2492Thr) c.740A>C (p.Asn247Thr) n.996A>C c.7655A>C (p.Asn2552Thr) c.7589A>C (p.Asn2530Thr) c.7652A>C (p.Asn2551Thr) c.7649A>C (p.Asn2550Thr) c.7595A>C (p.Asn2532Thr) c.7565A>C (p.Asn2522Thr) c.7520A>C (p.Asn2507Thr) c.7115A>C (p.Asn2372Thr) c.6473A>C (p.Asn2158Thr) c.3983A>C (p.Asn1328Thr) | |
10 | g.71800733A>G | CA377160006 | CDH23 | c.7460A>G (p.Asn2487Ser) c.1393A>G (n.1393A>G) c.1057A>G (n.1057A>G) c.7475A>G (p.Asn2492Ser) c.740A>G (p.Asn247Ser) n.996A>G c.7655A>G (p.Asn2552Ser) c.7589A>G (p.Asn2530Ser) c.7652A>G (p.Asn2551Ser) c.7649A>G (p.Asn2550Ser) c.7595A>G (p.Asn2532Ser) c.7565A>G (p.Asn2522Ser) c.7520A>G (p.Asn2507Ser) c.7115A>G (p.Asn2372Ser) c.6473A>G (p.Asn2158Ser) c.3983A>G (p.Asn1328Ser) | |
10 | g.71800733A>T | CA377160007 | CDH23 | c.7460A>T (p.Asn2487Ile) c.1393A>T (n.1393A>T) c.1057A>T (n.1057A>T) c.7475A>T (p.Asn2492Ile) c.740A>T (p.Asn247Ile) n.996A>T c.7655A>T (p.Asn2552Ile) c.7589A>T (p.Asn2530Ile) c.7652A>T (p.Asn2551Ile) c.7649A>T (p.Asn2550Ile) c.7595A>T (p.Asn2532Ile) c.7565A>T (p.Asn2522Ile) c.7520A>T (p.Asn2507Ile) c.7115A>T (p.Asn2372Ile) c.6473A>T (p.Asn2158Ile) c.3983A>T (p.Asn1328Ile) | |
10 | g.71800734C>A | CA377160008 | CDH23 | c.7461C>A (p.Asn2487Lys) c.1394C>A (n.1394C>A) c.1058C>A (n.1058C>A) c.7476C>A (p.Asn2492Lys) c.741C>A (p.Asn247Lys) n.997C>A c.7656C>A (p.Asn2552Lys) c.7590C>A (p.Asn2530Lys) c.7653C>A (p.Asn2551Lys) c.7650C>A (p.Asn2550Lys) c.7596C>A (p.Asn2532Lys) c.7566C>A (p.Asn2522Lys) c.7521C>A (p.Asn2507Lys) c.7116C>A (p.Asn2372Lys) c.6474C>A (p.Asn2158Lys) c.3984C>A (p.Asn1328Lys) | |
10 | g.71800734C= | CA1918879425 | CDH23 | c.7461C= (p.Asn2487=) c.1394C= (n.1394C=) c.1058C= (n.1058C=) c.7476C= (p.Asn2492=) c.741C= (p.Asn247=) n.997C= c.7656C= (p.Asn2552=) c.7590C= (p.Asn2530=) c.7653C= (p.Asn2551=) c.7650C= (p.Asn2550=) c.7596C= (p.Asn2532=) c.7566C= (p.Asn2522=) c.7521C= (p.Asn2507=) c.7116C= (p.Asn2372=) c.6474C= (p.Asn2158=) c.3984C= (p.Asn1328=) | |
10 | g.71800734C>G | CA377160009 | CDH23 | c.7461C>G (p.Asn2487Lys) c.1394C>G (n.1394C>G) c.1058C>G (n.1058C>G) c.7476C>G (p.Asn2492Lys) c.741C>G (p.Asn247Lys) n.997C>G c.7656C>G (p.Asn2552Lys) c.7590C>G (p.Asn2530Lys) c.7653C>G (p.Asn2551Lys) c.7650C>G (p.Asn2550Lys) c.7596C>G (p.Asn2532Lys) c.7566C>G (p.Asn2522Lys) c.7521C>G (p.Asn2507Lys) c.7116C>G (p.Asn2372Lys) c.6474C>G (p.Asn2158Lys) c.3984C>G (p.Asn1328Lys) | |
10 | g.71800734C>T | CA5546352 | CDH23 | c.7461C>T (p.Asn2487=) c.1394C>T (n.1394C>T) c.1058C>T (n.1058C>T) c.7476C>T (p.Asn2492=) c.741C>T (p.Asn247=) n.997C>T c.7656C>T (p.Asn2552=) c.7590C>T (p.Asn2530=) c.7653C>T (p.Asn2551=) c.7650C>T (p.Asn2550=) c.7596C>T (p.Asn2532=) c.7566C>T (p.Asn2522=) c.7521C>T (p.Asn2507=) c.7116C>T (p.Asn2372=) c.6474C>T (p.Asn2158=) c.3984C>T (p.Asn1328=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71800735C>A | CA377160011 | CDH23 | c.7462C>A (p.Arg2488Ser) c.1395C>A (n.1395C>A) c.1059C>A (n.1059C>A) c.7477C>A (p.Arg2493Ser) c.742C>A (p.Arg248Ser) n.998C>A c.7657C>A (p.Arg2553Ser) c.7591C>A (p.Arg2531Ser) c.7654C>A (p.Arg2552Ser) c.7651C>A (p.Arg2551Ser) c.7597C>A (p.Arg2533Ser) c.7567C>A (p.Arg2523Ser) c.7522C>A (p.Arg2508Ser) c.7117C>A (p.Arg2373Ser) c.6475C>A (p.Arg2159Ser) c.3985C>A (p.Arg1329Ser) | |
10 | g.71800735C= | CA1918879426 | CDH23 | c.7462C= (p.Arg2488=) c.1395C= (n.1395C=) c.1059C= (n.1059C=) c.7477C= (p.Arg2493=) c.742C= (p.Arg248=) n.998C= c.7657C= (p.Arg2553=) c.7591C= (p.Arg2531=) c.7654C= (p.Arg2552=) c.7651C= (p.Arg2551=) c.7597C= (p.Arg2533=) c.7567C= (p.Arg2523=) c.7522C= (p.Arg2508=) c.7117C= (p.Arg2373=) c.6475C= (p.Arg2159=) c.3985C= (p.Arg1329=) | |
10 | g.71800735C>G | CA377160010 | CDH23 | c.7462C>G (p.Arg2488Gly) c.1395C>G (n.1395C>G) c.1059C>G (n.1059C>G) c.7477C>G (p.Arg2493Gly) c.742C>G (p.Arg248Gly) n.998C>G c.7657C>G (p.Arg2553Gly) c.7591C>G (p.Arg2531Gly) c.7654C>G (p.Arg2552Gly) c.7651C>G (p.Arg2551Gly) c.7597C>G (p.Arg2533Gly) c.7567C>G (p.Arg2523Gly) c.7522C>G (p.Arg2508Gly) c.7117C>G (p.Arg2373Gly) c.6475C>G (p.Arg2159Gly) c.3985C>G (p.Arg1329Gly) | |
10 | g.71800735C>T | CA209471167 | CDH23 | c.7462C>T (p.Arg2488Cys) c.1395C>T (n.1395C>T) c.1059C>T (n.1059C>T) c.7477C>T (p.Arg2493Cys) c.742C>T (p.Arg248Cys) n.998C>T c.7657C>T (p.Arg2553Cys) c.7591C>T (p.Arg2531Cys) c.7654C>T (p.Arg2552Cys) c.7651C>T (p.Arg2551Cys) c.7597C>T (p.Arg2533Cys) c.7567C>T (p.Arg2523Cys) c.7522C>T (p.Arg2508Cys) c.7117C>T (p.Arg2373Cys) c.6475C>T (p.Arg2159Cys) c.3985C>T (p.Arg1329Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71800736G>A | CA175515 | CDH23 | c.7463G>A (p.Arg2488His) c.1396G>A (n.1396G>A) c.1060G>A (n.1060G>A) c.7478G>A (p.Arg2493His) c.743G>A (p.Arg248His) n.999G>A c.7658G>A (p.Arg2553His) c.7592G>A (p.Arg2531His) c.7655G>A (p.Arg2552His) c.7652G>A (p.Arg2551His) c.7598G>A (p.Arg2533His) c.7568G>A (p.Arg2523His) c.7523G>A (p.Arg2508His) c.7118G>A (p.Arg2373His) c.6476G>A (p.Arg2159His) c.3986G>A (p.Arg1329His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800736G>C | CA377160012 | CDH23 | c.7463G>C (p.Arg2488Pro) c.1396G>C (n.1396G>C) c.1060G>C (n.1060G>C) c.7478G>C (p.Arg2493Pro) c.743G>C (p.Arg248Pro) n.999G>C c.7658G>C (p.Arg2553Pro) c.7592G>C (p.Arg2531Pro) c.7655G>C (p.Arg2552Pro) c.7652G>C (p.Arg2551Pro) c.7598G>C (p.Arg2533Pro) c.7568G>C (p.Arg2523Pro) c.7523G>C (p.Arg2508Pro) c.7118G>C (p.Arg2373Pro) c.6476G>C (p.Arg2159Pro) c.3986G>C (p.Arg1329Pro) | |
10 | g.71800736G= | CA1918879427 | CDH23 | c.7463G= (p.Arg2488=) c.1396G= (n.1396G=) c.1060G= (n.1060G=) c.7478G= (p.Arg2493=) c.743G= (p.Arg248=) n.999G= c.7658G= (p.Arg2553=) c.7592G= (p.Arg2531=) c.7655G= (p.Arg2552=) c.7652G= (p.Arg2551=) c.7598G= (p.Arg2533=) c.7568G= (p.Arg2523=) c.7523G= (p.Arg2508=) c.7118G= (p.Arg2373=) c.6476G= (p.Arg2159=) c.3986G= (p.Arg1329=) | |
10 | g.71800736G>T | CA377160013 | CDH23 | c.7463G>T (p.Arg2488Leu) c.1396G>T (n.1396G>T) c.1060G>T (n.1060G>T) c.7478G>T (p.Arg2493Leu) c.743G>T (p.Arg248Leu) n.999G>T c.7658G>T (p.Arg2553Leu) c.7592G>T (p.Arg2531Leu) c.7655G>T (p.Arg2552Leu) c.7652G>T (p.Arg2551Leu) c.7598G>T (p.Arg2533Leu) c.7568G>T (p.Arg2523Leu) c.7523G>T (p.Arg2508Leu) c.7118G>T (p.Arg2373Leu) c.6476G>T (p.Arg2159Leu) c.3986G>T (p.Arg1329Leu) | |
10 | g.71800737T>A | CA470062296 | CDH23 | c.7464T>A (p.Arg2488=) c.1397T>A (n.1397T>A) c.1061T>A (n.1061T>A) c.7479T>A (p.Arg2493=) c.744T>A (p.Arg248=) n.1000T>A c.7659T>A (p.Arg2553=) c.7593T>A (p.Arg2531=) c.7656T>A (p.Arg2552=) c.7653T>A (p.Arg2551=) c.7599T>A (p.Arg2533=) c.7569T>A (p.Arg2523=) c.7524T>A (p.Arg2508=) c.7119T>A (p.Arg2373=) c.6477T>A (p.Arg2159=) c.3987T>A (p.Arg1329=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71800737T>C | CA470062297 | CDH23 | c.7464T>C (p.Arg2488=) c.1397T>C (n.1397T>C) c.1061T>C (n.1061T>C) c.7479T>C (p.Arg2493=) c.744T>C (p.Arg248=) n.1000T>C c.7659T>C (p.Arg2553=) c.7593T>C (p.Arg2531=) c.7656T>C (p.Arg2552=) c.7653T>C (p.Arg2551=) c.7599T>C (p.Arg2533=) c.7569T>C (p.Arg2523=) c.7524T>C (p.Arg2508=) c.7119T>C (p.Arg2373=) c.6477T>C (p.Arg2159=) c.3987T>C (p.Arg1329=) | |
10 | g.71800737T>G | CA470062298 | CDH23 | c.7464T>G (p.Arg2488=) c.1397T>G (n.1397T>G) c.1061T>G (n.1061T>G) c.7479T>G (p.Arg2493=) c.744T>G (p.Arg248=) n.1000T>G c.7659T>G (p.Arg2553=) c.7593T>G (p.Arg2531=) c.7656T>G (p.Arg2552=) c.7653T>G (p.Arg2551=) c.7599T>G (p.Arg2533=) c.7569T>G (p.Arg2523=) c.7524T>G (p.Arg2508=) c.7119T>G (p.Arg2373=) c.6477T>G (p.Arg2159=) c.3987T>G (p.Arg1329=) | |
10 | g.71800737T= | CA1918879428 | CDH23 | c.7464T= (p.Arg2488=) c.1397T= (n.1397T=) c.1061T= (n.1061T=) c.7479T= (p.Arg2493=) c.744T= (p.Arg248=) n.1000T= c.7659T= (p.Arg2553=) c.7593T= (p.Arg2531=) c.7656T= (p.Arg2552=) c.7653T= (p.Arg2551=) c.7599T= (p.Arg2533=) c.7569T= (p.Arg2523=) c.7524T= (p.Arg2508=) c.7119T= (p.Arg2373=) c.6477T= (p.Arg2159=) c.3987T= (p.Arg1329=) | |
10 | g.71800738C>A | CA377160014 | CDH23 | c.7465C>A (p.Arg2489Ser) c.1398C>A (n.1398C>A) c.1062C>A (n.1062C>A) c.7480C>A (p.Arg2494Ser) c.745C>A (p.Arg249Ser) n.1001C>A c.7660C>A (p.Arg2554Ser) c.7594C>A (p.Arg2532Ser) c.7657C>A (p.Arg2553Ser) c.7654C>A (p.Arg2552Ser) c.7600C>A (p.Arg2534Ser) c.7570C>A (p.Arg2524Ser) c.7525C>A (p.Arg2509Ser) c.7120C>A (p.Arg2374Ser) c.6478C>A (p.Arg2160Ser) c.3988C>A (p.Arg1330Ser) | |
10 | g.71800738C= | CA1918879429 | CDH23 | c.7465C= (p.Arg2489=) c.1398C= (n.1398C=) c.1062C= (n.1062C=) c.7480C= (p.Arg2494=) c.745C= (p.Arg249=) n.1001C= c.7660C= (p.Arg2554=) c.7594C= (p.Arg2532=) c.7657C= (p.Arg2553=) c.7654C= (p.Arg2552=) c.7600C= (p.Arg2534=) c.7570C= (p.Arg2524=) c.7525C= (p.Arg2509=) c.7120C= (p.Arg2374=) c.6478C= (p.Arg2160=) c.3988C= (p.Arg1330=) | |
10 | g.71800738C>G | CA16605681 | CDH23 | c.7465C>G (p.Arg2489Gly) c.1398C>G (n.1398C>G) c.1062C>G (n.1062C>G) c.7480C>G (p.Arg2494Gly) c.745C>G (p.Arg249Gly) n.1001C>G c.7660C>G (p.Arg2554Gly) c.7594C>G (p.Arg2532Gly) c.7657C>G (p.Arg2553Gly) c.7654C>G (p.Arg2552Gly) c.7600C>G (p.Arg2534Gly) c.7570C>G (p.Arg2524Gly) c.7525C>G (p.Arg2509Gly) c.7120C>G (p.Arg2374Gly) c.6478C>G (p.Arg2160Gly) c.3988C>G (p.Arg1330Gly) | ClinVar dbSNP |
10 | g.71800738C>T | CA5546353 | CDH23 | c.7465C>T (p.Arg2489Cys) c.1398C>T (n.1398C>T) c.1062C>T (n.1062C>T) c.7480C>T (p.Arg2494Cys) c.745C>T (p.Arg249Cys) n.1001C>T c.7660C>T (p.Arg2554Cys) c.7594C>T (p.Arg2532Cys) c.7657C>T (p.Arg2553Cys) c.7654C>T (p.Arg2552Cys) c.7600C>T (p.Arg2534Cys) c.7570C>T (p.Arg2524Cys) c.7525C>T (p.Arg2509Cys) c.7120C>T (p.Arg2374Cys) c.6478C>T (p.Arg2160Cys) c.3988C>T (p.Arg1330Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800739G>A | CA5546354 | CDH23 | c.7466G>A (p.Arg2489His) c.1399G>A (n.1399G>A) c.1063G>A (n.1063G>A) c.7481G>A (p.Arg2494His) c.746G>A (p.Arg249His) n.1002G>A c.7661G>A (p.Arg2554His) c.7595G>A (p.Arg2532His) c.7658G>A (p.Arg2553His) c.7655G>A (p.Arg2552His) c.7601G>A (p.Arg2534His) c.7571G>A (p.Arg2524His) c.7526G>A (p.Arg2509His) c.7121G>A (p.Arg2374His) c.6479G>A (p.Arg2160His) c.3989G>A (p.Arg1330His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71800739G>C | CA377160015 | CDH23 | c.7466G>C (p.Arg2489Pro) c.1399G>C (n.1399G>C) c.1063G>C (n.1063G>C) c.7481G>C (p.Arg2494Pro) c.746G>C (p.Arg249Pro) n.1002G>C c.7661G>C (p.Arg2554Pro) c.7595G>C (p.Arg2532Pro) c.7658G>C (p.Arg2553Pro) c.7655G>C (p.Arg2552Pro) c.7601G>C (p.Arg2534Pro) c.7571G>C (p.Arg2524Pro) c.7526G>C (p.Arg2509Pro) c.7121G>C (p.Arg2374Pro) c.6479G>C (p.Arg2160Pro) c.3989G>C (p.Arg1330Pro) | |
10 | g.71800739G= | CA1918879430 | CDH23 | c.7466G= (p.Arg2489=) c.1399G= (n.1399G=) c.1063G= (n.1063G=) c.7481G= (p.Arg2494=) c.746G= (p.Arg249=) n.1002G= c.7661G= (p.Arg2554=) c.7595G= (p.Arg2532=) c.7658G= (p.Arg2553=) c.7655G= (p.Arg2552=) c.7601G= (p.Arg2534=) c.7571G= (p.Arg2524=) c.7526G= (p.Arg2509=) c.7121G= (p.Arg2374=) c.6479G= (p.Arg2160=) c.3989G= (p.Arg1330=) | |
10 | g.71800739G>T | CA377160016 | CDH23 | c.7466G>T (p.Arg2489Leu) c.1399G>T (n.1399G>T) c.1063G>T (n.1063G>T) c.7481G>T (p.Arg2494Leu) c.746G>T (p.Arg249Leu) n.1002G>T c.7661G>T (p.Arg2554Leu) c.7595G>T (p.Arg2532Leu) c.7658G>T (p.Arg2553Leu) c.7655G>T (p.Arg2552Leu) c.7601G>T (p.Arg2534Leu) c.7571G>T (p.Arg2524Leu) c.7526G>T (p.Arg2509Leu) c.7121G>T (p.Arg2374Leu) c.6479G>T (p.Arg2160Leu) c.3989G>T (p.Arg1330Leu) | |
10 | g.71800740C>A | CA470062299 | CDH23 | c.7467C>A (p.Arg2489=) c.1400C>A (n.1400C>A) c.1064C>A (n.1064C>A) c.7482C>A (p.Arg2494=) c.747C>A (p.Arg249=) n.1003C>A c.7662C>A (p.Arg2554=) c.7596C>A (p.Arg2532=) c.7659C>A (p.Arg2553=) c.7656C>A (p.Arg2552=) c.7602C>A (p.Arg2534=) c.7572C>A (p.Arg2524=) c.7527C>A (p.Arg2509=) c.7122C>A (p.Arg2374=) c.6480C>A (p.Arg2160=) c.3990C>A (p.Arg1330=) | |
10 | g.71800740C= | CA1918879431 | CDH23 | c.7467C= (p.Arg2489=) c.1400C= (n.1400C=) c.1064C= (n.1064C=) c.7482C= (p.Arg2494=) c.747C= (p.Arg249=) n.1003C= c.7662C= (p.Arg2554=) c.7596C= (p.Arg2532=) c.7659C= (p.Arg2553=) c.7656C= (p.Arg2552=) c.7602C= (p.Arg2534=) c.7572C= (p.Arg2524=) c.7527C= (p.Arg2509=) c.7122C= (p.Arg2374=) c.6480C= (p.Arg2160=) c.3990C= (p.Arg1330=) | |
10 | g.71800740C>G | CA470062300 | CDH23 | c.7467C>G (p.Arg2489=) c.1400C>G (n.1400C>G) c.1064C>G (n.1064C>G) c.7482C>G (p.Arg2494=) c.747C>G (p.Arg249=) n.1003C>G c.7662C>G (p.Arg2554=) c.7596C>G (p.Arg2532=) c.7659C>G (p.Arg2553=) c.7656C>G (p.Arg2552=) c.7602C>G (p.Arg2534=) c.7572C>G (p.Arg2524=) c.7527C>G (p.Arg2509=) c.7122C>G (p.Arg2374=) c.6480C>G (p.Arg2160=) c.3990C>G (p.Arg1330=) | gnomAD v4 |
10 | g.71800740C>T | CA137569 | CDH23 | c.7467C>T (p.Arg2489=) c.1400C>T (n.1400C>T) c.1064C>T (n.1064C>T) c.7482C>T (p.Arg2494=) c.747C>T (p.Arg249=) n.1003C>T c.7662C>T (p.Arg2554=) c.7596C>T (p.Arg2532=) c.7659C>T (p.Arg2553=) c.7656C>T (p.Arg2552=) c.7602C>T (p.Arg2534=) c.7572C>T (p.Arg2524=) c.7527C>T (p.Arg2509=) c.7122C>T (p.Arg2374=) c.6480C>T (p.Arg2160=) c.3990C>T (p.Arg1330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800741G>A | CA137571 | CDH23 | c.7468G>A (p.Glu2490Lys) c.1401G>A (n.1401G>A) c.1065G>A (n.1065G>A) c.7483G>A (p.Glu2495Lys) c.748G>A (p.Glu250Lys) n.1004G>A c.7663G>A (p.Glu2555Lys) c.7597G>A (p.Glu2533Lys) c.7660G>A (p.Glu2554Lys) c.7657G>A (p.Glu2553Lys) c.7603G>A (p.Glu2535Lys) c.7573G>A (p.Glu2525Lys) c.7528G>A (p.Glu2510Lys) c.7123G>A (p.Glu2375Lys) c.6481G>A (p.Glu2161Lys) c.3991G>A (p.Glu1331Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71800741G>C | CA377160017 | CDH23 | c.7468G>C (p.Glu2490Gln) c.1401G>C (n.1401G>C) c.1065G>C (n.1065G>C) c.7483G>C (p.Glu2495Gln) c.748G>C (p.Glu250Gln) n.1004G>C c.7663G>C (p.Glu2555Gln) c.7597G>C (p.Glu2533Gln) c.7660G>C (p.Glu2554Gln) c.7657G>C (p.Glu2553Gln) c.7603G>C (p.Glu2535Gln) c.7573G>C (p.Glu2525Gln) c.7528G>C (p.Glu2510Gln) c.7123G>C (p.Glu2375Gln) c.6481G>C (p.Glu2161Gln) c.3991G>C (p.Glu1331Gln) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71800741G= | CA1918879432 | CDH23 | c.7468G= (p.Glu2490=) c.1401G= (n.1401G=) c.1065G= (n.1065G=) c.7483G= (p.Glu2495=) c.748G= (p.Glu250=) n.1004G= c.7663G= (p.Glu2555=) c.7597G= (p.Glu2533=) c.7660G= (p.Glu2554=) c.7657G= (p.Glu2553=) c.7603G= (p.Glu2535=) c.7573G= (p.Glu2525=) c.7528G= (p.Glu2510=) c.7123G= (p.Glu2375=) c.6481G= (p.Glu2161=) c.3991G= (p.Glu1331=) | |
10 | g.71800741G>T | CA377160018 | CDH23 | c.7468G>T (p.Glu2490Ter) c.1401G>T (n.1401G>T) c.1065G>T (n.1065G>T) c.7483G>T (p.Glu2495Ter) c.748G>T (p.Glu250Ter) n.1004G>T c.7663G>T (p.Glu2555Ter) c.7597G>T (p.Glu2533Ter) c.7660G>T (p.Glu2554Ter) c.7657G>T (p.Glu2553Ter) c.7603G>T (p.Glu2535Ter) c.7573G>T (p.Glu2525Ter) c.7528G>T (p.Glu2510Ter) c.7123G>T (p.Glu2375Ter) c.6481G>T (p.Glu2161Ter) c.3991G>T (p.Glu1331Ter) | |
10 | g.71800741_71800742del | CA2788480632 | CDH23 | c.7468_7469del (p.Glu2490LysfsTer14) c.1401_1402del (n.1401_1402del) c.1065_1066del (n.1065_1066del) c.7483_7484del (p.Glu2495LysfsTer14) c.748_749del (p.Glu250LysfsTer14) n.1004_1005del c.7663_7664del (p.Glu2555LysfsTer14) c.7597_7598del (p.Glu2533LysfsTer14) c.7660_7661del (p.Glu2554LysfsTer14) c.7657_7658del (p.Glu2553LysfsTer14) c.7603_7604del (p.Glu2535LysfsTer14) c.7573_7574del (p.Glu2525LysfsTer14) c.7528_7529del (p.Glu2510LysfsTer14) c.7123_7124del (p.Glu2375LysfsTer14) c.6481_6482del (p.Glu2161LysfsTer14) c.3991_3992del (p.Glu1331LysfsTer14) | |
10 | g.71800742A= | CA1918879433 | CDH23 | c.7469A= (p.Glu2490=) c.1402A= (n.1402A=) c.1066A= (n.1066A=) c.7484A= (p.Glu2495=) c.749A= (p.Glu250=) n.1005A= c.7664A= (p.Glu2555=) c.7598A= (p.Glu2533=) c.7661A= (p.Glu2554=) c.7658A= (p.Glu2553=) c.7604A= (p.Glu2535=) c.7574A= (p.Glu2525=) c.7529A= (p.Glu2510=) c.7124A= (p.Glu2375=) c.6482A= (p.Glu2161=) c.3992A= (p.Glu1331=) | |
10 | g.71800742A>C | CA377160020 | CDH23 | c.7469A>C (p.Glu2490Ala) c.1402A>C (n.1402A>C) c.1066A>C (n.1066A>C) c.7484A>C (p.Glu2495Ala) c.749A>C (p.Glu250Ala) n.1005A>C c.7664A>C (p.Glu2555Ala) c.7598A>C (p.Glu2533Ala) c.7661A>C (p.Glu2554Ala) c.7658A>C (p.Glu2553Ala) c.7604A>C (p.Glu2535Ala) c.7574A>C (p.Glu2525Ala) c.7529A>C (p.Glu2510Ala) c.7124A>C (p.Glu2375Ala) c.6482A>C (p.Glu2161Ala) c.3992A>C (p.Glu1331Ala) | |
10 | g.71800742A>G | CA5546355 | CDH23 | c.7469A>G (p.Glu2490Gly) c.1402A>G (n.1402A>G) c.1066A>G (n.1066A>G) c.7484A>G (p.Glu2495Gly) c.749A>G (p.Glu250Gly) n.1005A>G c.7664A>G (p.Glu2555Gly) c.7598A>G (p.Glu2533Gly) c.7661A>G (p.Glu2554Gly) c.7658A>G (p.Glu2553Gly) c.7604A>G (p.Glu2535Gly) c.7574A>G (p.Glu2525Gly) c.7529A>G (p.Glu2510Gly) c.7124A>G (p.Glu2375Gly) c.6482A>G (p.Glu2161Gly) c.3992A>G (p.Glu1331Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71800742A>T | CA377160019 | CDH23 | c.7469A>T (p.Glu2490Val) c.1402A>T (n.1402A>T) c.1066A>T (n.1066A>T) c.7484A>T (p.Glu2495Val) c.749A>T (p.Glu250Val) n.1005A>T c.7664A>T (p.Glu2555Val) c.7598A>T (p.Glu2533Val) c.7661A>T (p.Glu2554Val) c.7658A>T (p.Glu2553Val) c.7604A>T (p.Glu2535Val) c.7574A>T (p.Glu2525Val) c.7529A>T (p.Glu2510Val) c.7124A>T (p.Glu2375Val) c.6482A>T (p.Glu2161Val) c.3992A>T (p.Glu1331Val) | |
10 | g.71800743A>C | CA377160021 | CDH23 | c.7470A>C (p.Glu2490Asp) c.1403A>C (n.1403A>C) c.1067A>C (n.1067A>C) c.7485A>C (p.Glu2495Asp) c.750A>C (p.Glu250Asp) n.1006A>C c.7665A>C (p.Glu2555Asp) c.7599A>C (p.Glu2533Asp) c.7662A>C (p.Glu2554Asp) c.7659A>C (p.Glu2553Asp) c.7605A>C (p.Glu2535Asp) c.7575A>C (p.Glu2525Asp) c.7530A>C (p.Glu2510Asp) c.7125A>C (p.Glu2375Asp) c.6483A>C (p.Glu2161Asp) c.3993A>C (p.Glu1331Asp) | |
10 | g.71800743A>G | CA470062301 | CDH23 | c.7470A>G (p.Glu2490=) c.1403A>G (n.1403A>G) c.1067A>G (n.1067A>G) c.7485A>G (p.Glu2495=) c.750A>G (p.Glu250=) n.1006A>G c.7665A>G (p.Glu2555=) c.7599A>G (p.Glu2533=) c.7662A>G (p.Glu2554=) c.7659A>G (p.Glu2553=) c.7605A>G (p.Glu2535=) c.7575A>G (p.Glu2525=) c.7530A>G (p.Glu2510=) c.7125A>G (p.Glu2375=) c.6483A>G (p.Glu2161=) c.3993A>G (p.Glu1331=) | |
10 | g.71800743A>T | CA377160022 | CDH23 | c.7470A>T (p.Glu2490Asp) c.1403A>T (n.1403A>T) c.1067A>T (n.1067A>T) c.7485A>T (p.Glu2495Asp) c.750A>T (p.Glu250Asp) n.1006A>T c.7665A>T (p.Glu2555Asp) c.7599A>T (p.Glu2533Asp) c.7662A>T (p.Glu2554Asp) c.7659A>T (p.Glu2553Asp) c.7605A>T (p.Glu2535Asp) c.7575A>T (p.Glu2525Asp) c.7530A>T (p.Glu2510Asp) c.7125A>T (p.Glu2375Asp) c.6483A>T (p.Glu2161Asp) c.3993A>T (p.Glu1331Asp) | |
10 | g.71800744A= | CA1918879434 | CDH23 | c.7471A= (p.Asn2491=) c.1404A= (n.1404A=) c.1068A= (n.1068A=) c.7486A= (p.Asn2496=) c.751A= (p.Asn251=) n.1007A= c.7666A= (p.Asn2556=) c.7600A= (p.Asn2534=) c.7663A= (p.Asn2555=) c.7660A= (p.Asn2554=) c.7606A= (p.Asn2536=) c.7576A= (p.Asn2526=) c.7531A= (p.Asn2511=) c.7126A= (p.Asn2376=) c.6484A= (p.Asn2162=) c.3994A= (p.Asn1332=) | |
10 | g.71800744A>C | CA377160023 | CDH23 | c.7471A>C (p.Asn2491His) c.1404A>C (n.1404A>C) c.1068A>C (n.1068A>C) c.7486A>C (p.Asn2496His) c.751A>C (p.Asn251His) n.1007A>C c.7666A>C (p.Asn2556His) c.7600A>C (p.Asn2534His) c.7663A>C (p.Asn2555His) c.7660A>C (p.Asn2554His) c.7606A>C (p.Asn2536His) c.7576A>C (p.Asn2526His) c.7531A>C (p.Asn2511His) c.7126A>C (p.Asn2376His) c.6484A>C (p.Asn2162His) c.3994A>C (p.Asn1332His) | |
10 | g.71800744A>G | CA209471194 | CDH23 | c.7471A>G (p.Asn2491Asp) c.1404A>G (n.1404A>G) c.1068A>G (n.1068A>G) c.7486A>G (p.Asn2496Asp) c.751A>G (p.Asn251Asp) n.1007A>G c.7666A>G (p.Asn2556Asp) c.7600A>G (p.Asn2534Asp) c.7663A>G (p.Asn2555Asp) c.7660A>G (p.Asn2554Asp) c.7606A>G (p.Asn2536Asp) c.7576A>G (p.Asn2526Asp) c.7531A>G (p.Asn2511Asp) c.7126A>G (p.Asn2376Asp) c.6484A>G (p.Asn2162Asp) c.3994A>G (p.Asn1332Asp) | dbSNP gnomAD v4 |
10 | g.71800744A>T | CA377160024 | CDH23 | c.7471A>T (p.Asn2491Tyr) c.1404A>T (n.1404A>T) c.1068A>T (n.1068A>T) c.7486A>T (p.Asn2496Tyr) c.751A>T (p.Asn251Tyr) n.1007A>T c.7666A>T (p.Asn2556Tyr) c.7600A>T (p.Asn2534Tyr) c.7663A>T (p.Asn2555Tyr) c.7660A>T (p.Asn2554Tyr) c.7606A>T (p.Asn2536Tyr) c.7576A>T (p.Asn2526Tyr) c.7531A>T (p.Asn2511Tyr) c.7126A>T (p.Asn2376Tyr) c.6484A>T (p.Asn2162Tyr) c.3994A>T (p.Asn1332Tyr) | |
10 | g.71800745A>C | CA377160025 | CDH23 | c.7472A>C (p.Asn2491Thr) c.1405A>C (n.1405A>C) c.1069A>C (n.1069A>C) c.7487A>C (p.Asn2496Thr) c.752A>C (p.Asn251Thr) n.1008A>C c.7667A>C (p.Asn2556Thr) c.7601A>C (p.Asn2534Thr) c.7664A>C (p.Asn2555Thr) c.7661A>C (p.Asn2554Thr) c.7607A>C (p.Asn2536Thr) c.7577A>C (p.Asn2526Thr) c.7532A>C (p.Asn2511Thr) c.7127A>C (p.Asn2376Thr) c.6485A>C (p.Asn2162Thr) c.3995A>C (p.Asn1332Thr) | |
10 | g.71800745A>G | CA377160026 | CDH23 | c.7472A>G (p.Asn2491Ser) c.1405A>G (n.1405A>G) c.1069A>G (n.1069A>G) c.7487A>G (p.Asn2496Ser) c.752A>G (p.Asn251Ser) n.1008A>G c.7667A>G (p.Asn2556Ser) c.7601A>G (p.Asn2534Ser) c.7664A>G (p.Asn2555Ser) c.7661A>G (p.Asn2554Ser) c.7607A>G (p.Asn2536Ser) c.7577A>G (p.Asn2526Ser) c.7532A>G (p.Asn2511Ser) c.7127A>G (p.Asn2376Ser) c.6485A>G (p.Asn2162Ser) c.3995A>G (p.Asn1332Ser) | |
10 | g.71800745A>T | CA377160027 | CDH23 | c.7472A>T (p.Asn2491Ile) c.1405A>T (n.1405A>T) c.1069A>T (n.1069A>T) c.7487A>T (p.Asn2496Ile) c.752A>T (p.Asn251Ile) n.1008A>T c.7667A>T (p.Asn2556Ile) c.7601A>T (p.Asn2534Ile) c.7664A>T (p.Asn2555Ile) c.7661A>T (p.Asn2554Ile) c.7607A>T (p.Asn2536Ile) c.7577A>T (p.Asn2526Ile) c.7532A>T (p.Asn2511Ile) c.7127A>T (p.Asn2376Ile) c.6485A>T (p.Asn2162Ile) c.3995A>T (p.Asn1332Ile) | |
10 | g.71800746T>A | CA377160028 | CDH23 | c.7473T>A (p.Asn2491Lys) c.1406T>A (n.1406T>A) c.1070T>A (n.1070T>A) c.7488T>A (p.Asn2496Lys) c.753T>A (p.Asn251Lys) n.1009T>A c.7668T>A (p.Asn2556Lys) c.7602T>A (p.Asn2534Lys) c.7665T>A (p.Asn2555Lys) c.7662T>A (p.Asn2554Lys) c.7608T>A (p.Asn2536Lys) c.7578T>A (p.Asn2526Lys) c.7533T>A (p.Asn2511Lys) c.7128T>A (p.Asn2376Lys) c.6486T>A (p.Asn2162Lys) c.3996T>A (p.Asn1332Lys) | |
10 | g.71800746T>C | CA470062302 | CDH23 | c.7473T>C (p.Asn2491=) c.1406T>C (n.1406T>C) c.1070T>C (n.1070T>C) c.7488T>C (p.Asn2496=) c.753T>C (p.Asn251=) n.1009T>C c.7668T>C (p.Asn2556=) c.7602T>C (p.Asn2534=) c.7665T>C (p.Asn2555=) c.7662T>C (p.Asn2554=) c.7608T>C (p.Asn2536=) c.7578T>C (p.Asn2526=) c.7533T>C (p.Asn2511=) c.7128T>C (p.Asn2376=) c.6486T>C (p.Asn2162=) c.3996T>C (p.Asn1332=) | |
10 | g.71800746T>G | CA377160029 | CDH23 | c.7473T>G (p.Asn2491Lys) c.1406T>G (n.1406T>G) c.1070T>G (n.1070T>G) c.7488T>G (p.Asn2496Lys) c.753T>G (p.Asn251Lys) n.1009T>G c.7668T>G (p.Asn2556Lys) c.7602T>G (p.Asn2534Lys) c.7665T>G (p.Asn2555Lys) c.7662T>G (p.Asn2554Lys) c.7608T>G (p.Asn2536Lys) c.7578T>G (p.Asn2526Lys) c.7533T>G (p.Asn2511Lys) c.7128T>G (p.Asn2376Lys) c.6486T>G (p.Asn2162Lys) c.3996T>G (p.Asn1332Lys) | |
10 | g.71800747T>A | CA377160030 | CDH23 | c.7474T>A (p.Ser2492Thr) c.1407T>A (n.1407T>A) c.1071T>A (n.1071T>A) c.7489T>A (p.Ser2497Thr) c.754T>A (p.Ser252Thr) n.1010T>A c.7669T>A (p.Ser2557Thr) c.7603T>A (p.Ser2535Thr) c.7666T>A (p.Ser2556Thr) c.7663T>A (p.Ser2555Thr) c.7609T>A (p.Ser2537Thr) c.7579T>A (p.Ser2527Thr) c.7534T>A (p.Ser2512Thr) c.7129T>A (p.Ser2377Thr) c.6487T>A (p.Ser2163Thr) c.3997T>A (p.Ser1333Thr) | |
10 | g.71800747T>C | CA377160031 | CDH23 | c.7474T>C (p.Ser2492Pro) c.1407T>C (n.1407T>C) c.1071T>C (n.1071T>C) c.7489T>C (p.Ser2497Pro) c.754T>C (p.Ser252Pro) n.1010T>C c.7669T>C (p.Ser2557Pro) c.7603T>C (p.Ser2535Pro) c.7666T>C (p.Ser2556Pro) c.7663T>C (p.Ser2555Pro) c.7609T>C (p.Ser2537Pro) c.7579T>C (p.Ser2527Pro) c.7534T>C (p.Ser2512Pro) c.7129T>C (p.Ser2377Pro) c.6487T>C (p.Ser2163Pro) c.3997T>C (p.Ser1333Pro) | |
10 | g.71800747T>G | CA377160032 | CDH23 | c.7474T>G (p.Ser2492Ala) c.1407T>G (n.1407T>G) c.1071T>G (n.1071T>G) c.7489T>G (p.Ser2497Ala) c.754T>G (p.Ser252Ala) n.1010T>G c.7669T>G (p.Ser2557Ala) c.7603T>G (p.Ser2535Ala) c.7666T>G (p.Ser2556Ala) c.7663T>G (p.Ser2555Ala) c.7609T>G (p.Ser2537Ala) c.7579T>G (p.Ser2527Ala) c.7534T>G (p.Ser2512Ala) c.7129T>G (p.Ser2377Ala) c.6487T>G (p.Ser2163Ala) c.3997T>G (p.Ser1333Ala) | |
10 | g.71800748C>A | CA377160035 | CDH23 | c.7475C>A (p.Ser2492Ter) c.1408C>A (n.1408C>A) c.1072C>A (n.1072C>A) c.7490C>A (p.Ser2497Ter) c.755C>A (p.Ser252Ter) n.1011C>A c.7670C>A (p.Ser2557Ter) c.7604C>A (p.Ser2535Ter) c.7667C>A (p.Ser2556Ter) c.7664C>A (p.Ser2555Ter) c.7610C>A (p.Ser2537Ter) c.7580C>A (p.Ser2527Ter) c.7535C>A (p.Ser2512Ter) c.7130C>A (p.Ser2377Ter) c.6488C>A (p.Ser2163Ter) c.3998C>A (p.Ser1333Ter) | |
10 | g.71800748C>G | CA377160034 | CDH23 | c.7475C>G (p.Ser2492Ter) c.1408C>G (n.1408C>G) c.1072C>G (n.1072C>G) c.7490C>G (p.Ser2497Ter) c.755C>G (p.Ser252Ter) n.1011C>G c.7670C>G (p.Ser2557Ter) c.7604C>G (p.Ser2535Ter) c.7667C>G (p.Ser2556Ter) c.7664C>G (p.Ser2555Ter) c.7610C>G (p.Ser2537Ter) c.7580C>G (p.Ser2527Ter) c.7535C>G (p.Ser2512Ter) c.7130C>G (p.Ser2377Ter) c.6488C>G (p.Ser2163Ter) c.3998C>G (p.Ser1333Ter) | |
10 | g.71800748C>T | CA377160033 | CDH23 | c.7475C>T (p.Ser2492Leu) c.1408C>T (n.1408C>T) c.1072C>T (n.1072C>T) c.7490C>T (p.Ser2497Leu) c.755C>T (p.Ser252Leu) n.1011C>T c.7670C>T (p.Ser2557Leu) c.7604C>T (p.Ser2535Leu) c.7667C>T (p.Ser2556Leu) c.7664C>T (p.Ser2555Leu) c.7610C>T (p.Ser2537Leu) c.7580C>T (p.Ser2527Leu) c.7535C>T (p.Ser2512Leu) c.7130C>T (p.Ser2377Leu) c.6488C>T (p.Ser2163Leu) c.3998C>T (p.Ser1333Leu) | |
10 | g.71800749A>C | CA470062304 | CDH23 | c.7476A>C (p.Ser2492=) c.1409A>C (n.1409A>C) c.1073A>C (n.1073A>C) c.7491A>C (p.Ser2497=) c.756A>C (p.Ser252=) n.1012A>C c.7671A>C (p.Ser2557=) c.7605A>C (p.Ser2535=) c.7668A>C (p.Ser2556=) c.7665A>C (p.Ser2555=) c.7611A>C (p.Ser2537=) c.7581A>C (p.Ser2527=) c.7536A>C (p.Ser2512=) c.7131A>C (p.Ser2377=) c.6489A>C (p.Ser2163=) c.3999A>C (p.Ser1333=) | |
10 | g.71800749A>G | CA470062305 | CDH23 | c.7476A>G (p.Ser2492=) c.1409A>G (n.1409A>G) c.1073A>G (n.1073A>G) c.7491A>G (p.Ser2497=) c.756A>G (p.Ser252=) n.1012A>G c.7671A>G (p.Ser2557=) c.7605A>G (p.Ser2535=) c.7668A>G (p.Ser2556=) c.7665A>G (p.Ser2555=) c.7611A>G (p.Ser2537=) c.7581A>G (p.Ser2527=) c.7536A>G (p.Ser2512=) c.7131A>G (p.Ser2377=) c.6489A>G (p.Ser2163=) c.3999A>G (p.Ser1333=) | |
10 | g.71800749A>T | CA470062306 | CDH23 | c.7476A>T (p.Ser2492=) c.1409A>T (n.1409A>T) c.1073A>T (n.1073A>T) c.7491A>T (p.Ser2497=) c.756A>T (p.Ser252=) n.1012A>T c.7671A>T (p.Ser2557=) c.7605A>T (p.Ser2535=) c.7668A>T (p.Ser2556=) c.7665A>T (p.Ser2555=) c.7611A>T (p.Ser2537=) c.7581A>T (p.Ser2527=) c.7536A>T (p.Ser2512=) c.7131A>T (p.Ser2377=) c.6489A>T (p.Ser2163=) c.3999A>T (p.Ser1333=) |