Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71798453C>A | CA377157964 | CDH23 | c.6929C>A (p.Thr2310Asn) c.862C>A (n.862C>A) c.526C>A (n.526C>A) c.6944C>A (p.Thr2315Asn) c.209C>A (p.Thr70Asn) n.465C>A c.7124C>A (p.Thr2375Asn) c.7058C>A (p.Thr2353Asn) c.7121C>A (p.Thr2374Asn) c.7118C>A (p.Thr2373Asn) c.7064C>A (p.Thr2355Asn) c.7034C>A (p.Thr2345Asn) c.6989C>A (p.Thr2330Asn) c.6584C>A (p.Thr2195Asn) c.5942C>A (p.Thr1981Asn) c.3452C>A (p.Thr1151Asn) | gnomAD v4 |
10 | g.71798453C= | CA1918878451 | CDH23 | c.6929C= (p.Thr2310=) c.862C= (n.862C=) c.526C= (n.526C=) c.6944C= (p.Thr2315=) c.209C= (p.Thr70=) n.465C= c.7124C= (p.Thr2375=) c.7058C= (p.Thr2353=) c.7121C= (p.Thr2374=) c.7118C= (p.Thr2373=) c.7064C= (p.Thr2355=) c.7034C= (p.Thr2345=) c.6989C= (p.Thr2330=) c.6584C= (p.Thr2195=) c.5942C= (p.Thr1981=) c.3452C= (p.Thr1151=) | |
10 | g.71798453C>G | CA377157965 | CDH23 | c.6929C>G (p.Thr2310Ser) c.862C>G (n.862C>G) c.526C>G (n.526C>G) c.6944C>G (p.Thr2315Ser) c.209C>G (p.Thr70Ser) n.465C>G c.7124C>G (p.Thr2375Ser) c.7058C>G (p.Thr2353Ser) c.7121C>G (p.Thr2374Ser) c.7118C>G (p.Thr2373Ser) c.7064C>G (p.Thr2355Ser) c.7034C>G (p.Thr2345Ser) c.6989C>G (p.Thr2330Ser) c.6584C>G (p.Thr2195Ser) c.5942C>G (p.Thr1981Ser) c.3452C>G (p.Thr1151Ser) | |
10 | g.71798453C>T | CA5546225 | CDH23 | c.6929C>T (p.Thr2310Ile) c.862C>T (n.862C>T) c.526C>T (n.526C>T) c.6944C>T (p.Thr2315Ile) c.209C>T (p.Thr70Ile) n.465C>T c.7124C>T (p.Thr2375Ile) c.7058C>T (p.Thr2353Ile) c.7121C>T (p.Thr2374Ile) c.7118C>T (p.Thr2373Ile) c.7064C>T (p.Thr2355Ile) c.7034C>T (p.Thr2345Ile) c.6989C>T (p.Thr2330Ile) c.6584C>T (p.Thr2195Ile) c.5942C>T (p.Thr1981Ile) c.3452C>T (p.Thr1151Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798454C>A | CA470062025 | CDH23 | c.6930C>A (p.Thr2310=) c.863C>A (n.863C>A) c.527C>A (n.527C>A) c.6945C>A (p.Thr2315=) c.210C>A (p.Thr70=) n.466C>A c.7125C>A (p.Thr2375=) c.7059C>A (p.Thr2353=) c.7122C>A (p.Thr2374=) c.7119C>A (p.Thr2373=) c.7065C>A (p.Thr2355=) c.7035C>A (p.Thr2345=) c.6990C>A (p.Thr2330=) c.6585C>A (p.Thr2195=) c.5943C>A (p.Thr1981=) c.3453C>A (p.Thr1151=) | ClinVar dbSNP gnomAD v4 |
10 | g.71798454C>G | CA470062027 | CDH23 | c.6930C>G (p.Thr2310=) c.863C>G (n.863C>G) c.527C>G (n.527C>G) c.6945C>G (p.Thr2315=) c.210C>G (p.Thr70=) n.466C>G c.7125C>G (p.Thr2375=) c.7059C>G (p.Thr2353=) c.7122C>G (p.Thr2374=) c.7119C>G (p.Thr2373=) c.7065C>G (p.Thr2355=) c.7035C>G (p.Thr2345=) c.6990C>G (p.Thr2330=) c.6585C>G (p.Thr2195=) c.5943C>G (p.Thr1981=) c.3453C>G (p.Thr1151=) | |
10 | g.71798454C>T | CA470062026 | CDH23 | c.6930C>T (p.Thr2310=) c.863C>T (n.863C>T) c.527C>T (n.527C>T) c.6945C>T (p.Thr2315=) c.210C>T (p.Thr70=) n.466C>T c.7125C>T (p.Thr2375=) c.7059C>T (p.Thr2353=) c.7122C>T (p.Thr2374=) c.7119C>T (p.Thr2373=) c.7065C>T (p.Thr2355=) c.7035C>T (p.Thr2345=) c.6990C>T (p.Thr2330=) c.6585C>T (p.Thr2195=) c.5943C>T (p.Thr1981=) c.3453C>T (p.Thr1151=) | |
10 | g.71798455C>A | CA377157968 | CDH23 | c.6931C>A (p.Pro2311Thr) c.864C>A (n.864C>A) c.528C>A (n.528C>A) c.6946C>A (p.Pro2316Thr) c.211C>A (p.Pro71Thr) n.467C>A c.7126C>A (p.Pro2376Thr) c.7060C>A (p.Pro2354Thr) c.7123C>A (p.Pro2375Thr) c.7120C>A (p.Pro2374Thr) c.7066C>A (p.Pro2356Thr) c.7036C>A (p.Pro2346Thr) c.6991C>A (p.Pro2331Thr) c.6586C>A (p.Pro2196Thr) c.5944C>A (p.Pro1982Thr) c.3454C>A (p.Pro1152Thr) | |
10 | g.71798455C= | CA1918878452 | CDH23 | c.6931C= (p.Pro2311=) c.864C= (n.864C=) c.528C= (n.528C=) c.6946C= (p.Pro2316=) c.211C= (p.Pro71=) n.467C= c.7126C= (p.Pro2376=) c.7060C= (p.Pro2354=) c.7123C= (p.Pro2375=) c.7120C= (p.Pro2374=) c.7066C= (p.Pro2356=) c.7036C= (p.Pro2346=) c.6991C= (p.Pro2331=) c.6586C= (p.Pro2196=) c.5944C= (p.Pro1982=) c.3454C= (p.Pro1152=) | |
10 | g.71798455C>G | CA377157969 | CDH23 | c.6931C>G (p.Pro2311Ala) c.864C>G (n.864C>G) c.528C>G (n.528C>G) c.6946C>G (p.Pro2316Ala) c.211C>G (p.Pro71Ala) n.467C>G c.7126C>G (p.Pro2376Ala) c.7060C>G (p.Pro2354Ala) c.7123C>G (p.Pro2375Ala) c.7120C>G (p.Pro2374Ala) c.7066C>G (p.Pro2356Ala) c.7036C>G (p.Pro2346Ala) c.6991C>G (p.Pro2331Ala) c.6586C>G (p.Pro2196Ala) c.5944C>G (p.Pro1982Ala) c.3454C>G (p.Pro1152Ala) | |
10 | g.71798455C>T | CA377157971 | CDH23 | c.6931C>T (p.Pro2311Ser) c.864C>T (n.864C>T) c.528C>T (n.528C>T) c.6946C>T (p.Pro2316Ser) c.211C>T (p.Pro71Ser) n.467C>T c.7126C>T (p.Pro2376Ser) c.7060C>T (p.Pro2354Ser) c.7123C>T (p.Pro2375Ser) c.7120C>T (p.Pro2374Ser) c.7066C>T (p.Pro2356Ser) c.7036C>T (p.Pro2346Ser) c.6991C>T (p.Pro2331Ser) c.6586C>T (p.Pro2196Ser) c.5944C>T (p.Pro1982Ser) c.3454C>T (p.Pro1152Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.71798456C>A | CA377157972 | CDH23 | c.6932C>A (p.Pro2311His) c.865C>A (n.865C>A) c.529C>A (n.529C>A) c.6947C>A (p.Pro2316His) c.212C>A (p.Pro71His) n.468C>A c.7127C>A (p.Pro2376His) c.7061C>A (p.Pro2354His) c.7124C>A (p.Pro2375His) c.7121C>A (p.Pro2374His) c.7067C>A (p.Pro2356His) c.7037C>A (p.Pro2346His) c.6992C>A (p.Pro2331His) c.6587C>A (p.Pro2196His) c.5945C>A (p.Pro1982His) c.3455C>A (p.Pro1152His) | |
10 | g.71798456C= | CA1918878453 | CDH23 | c.6932C= (p.Pro2311=) c.865C= (n.865C=) c.529C= (n.529C=) c.6947C= (p.Pro2316=) c.212C= (p.Pro71=) n.468C= c.7127C= (p.Pro2376=) c.7061C= (p.Pro2354=) c.7124C= (p.Pro2375=) c.7121C= (p.Pro2374=) c.7067C= (p.Pro2356=) c.7037C= (p.Pro2346=) c.6992C= (p.Pro2331=) c.6587C= (p.Pro2196=) c.5945C= (p.Pro1982=) c.3455C= (p.Pro1152=) | |
10 | g.71798456C>G | CA5546226 | CDH23 | c.6932C>G (p.Pro2311Arg) c.865C>G (n.865C>G) c.529C>G (n.529C>G) c.6947C>G (p.Pro2316Arg) c.212C>G (p.Pro71Arg) n.468C>G c.7127C>G (p.Pro2376Arg) c.7061C>G (p.Pro2354Arg) c.7124C>G (p.Pro2375Arg) c.7121C>G (p.Pro2374Arg) c.7067C>G (p.Pro2356Arg) c.7037C>G (p.Pro2346Arg) c.6992C>G (p.Pro2331Arg) c.6587C>G (p.Pro2196Arg) c.5945C>G (p.Pro1982Arg) c.3455C>G (p.Pro1152Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798456C>T | CA377157973 | CDH23 | c.6932C>T (p.Pro2311Leu) c.865C>T (n.865C>T) c.529C>T (n.529C>T) c.6947C>T (p.Pro2316Leu) c.212C>T (p.Pro71Leu) n.468C>T c.7127C>T (p.Pro2376Leu) c.7061C>T (p.Pro2354Leu) c.7124C>T (p.Pro2375Leu) c.7121C>T (p.Pro2374Leu) c.7067C>T (p.Pro2356Leu) c.7037C>T (p.Pro2346Leu) c.6992C>T (p.Pro2331Leu) c.6587C>T (p.Pro2196Leu) c.5945C>T (p.Pro1982Leu) c.3455C>T (p.Pro1152Leu) | |
10 | g.71798457del | CA2573145283 | CDH23 | c.6933del (p.Thr2313ProfsTer?) c.866del (n.866del) c.530del (n.530del) c.6948del (p.Thr2318ProfsTer?) c.213del (p.Thr73ProfsTer?) n.469del c.7128del (p.Thr2378ProfsTer?) c.7062del (p.Thr2356ProfsTer?) c.7125del (p.Thr2377ProfsTer?) c.7122del (p.Thr2376ProfsTer?) c.7068del (p.Thr2358ProfsTer?) c.7038del (p.Thr2348ProfsTer?) c.6993del (p.Thr2333ProfsTer?) c.6588del (p.Thr2198ProfsTer?) c.5946del (p.Thr1984ProfsTer?) c.3456del (p.Thr1154ProfsTer?) | ClinVar dbSNP |
10 | g.71798457T>A | CA470062029 | CDH23 | c.6933T>A (p.Pro2311=) c.866T>A (n.866T>A) c.530T>A (n.530T>A) c.6948T>A (p.Pro2316=) c.213T>A (p.Pro71=) n.469T>A c.7128T>A (p.Pro2376=) c.7062T>A (p.Pro2354=) c.7125T>A (p.Pro2375=) c.7122T>A (p.Pro2374=) c.7068T>A (p.Pro2356=) c.7038T>A (p.Pro2346=) c.6993T>A (p.Pro2331=) c.6588T>A (p.Pro2196=) c.5946T>A (p.Pro1982=) c.3456T>A (p.Pro1152=) | |
10 | g.71798457T>C | CA470062031 | CDH23 | c.6933T>C (p.Pro2311=) c.866T>C (n.866T>C) c.530T>C (n.530T>C) c.6948T>C (p.Pro2316=) c.213T>C (p.Pro71=) n.469T>C c.7128T>C (p.Pro2376=) c.7062T>C (p.Pro2354=) c.7125T>C (p.Pro2375=) c.7122T>C (p.Pro2374=) c.7068T>C (p.Pro2356=) c.7038T>C (p.Pro2346=) c.6993T>C (p.Pro2331=) c.6588T>C (p.Pro2196=) c.5946T>C (p.Pro1982=) c.3456T>C (p.Pro1152=) | gnomAD v4 |
10 | g.71798457T>G | CA470062032 | CDH23 | c.6933T>G (p.Pro2311=) c.866T>G (n.866T>G) c.530T>G (n.530T>G) c.6948T>G (p.Pro2316=) c.213T>G (p.Pro71=) n.469T>G c.7128T>G (p.Pro2376=) c.7062T>G (p.Pro2354=) c.7125T>G (p.Pro2375=) c.7122T>G (p.Pro2374=) c.7068T>G (p.Pro2356=) c.7038T>G (p.Pro2346=) c.6993T>G (p.Pro2331=) c.6588T>G (p.Pro2196=) c.5946T>G (p.Pro1982=) c.3456T>G (p.Pro1152=) | |
10 | g.71798458G>A | CA377157979 | CDH23 | c.6934G>A (p.Gly2312Arg) c.867G>A (n.867G>A) c.531G>A (n.531G>A) c.6949G>A (p.Gly2317Arg) c.214G>A (p.Gly72Arg) n.470G>A c.7129G>A (p.Gly2377Arg) c.7063G>A (p.Gly2355Arg) c.7126G>A (p.Gly2376Arg) c.7123G>A (p.Gly2375Arg) c.7069G>A (p.Gly2357Arg) c.7039G>A (p.Gly2347Arg) c.6994G>A (p.Gly2332Arg) c.6589G>A (p.Gly2197Arg) c.5947G>A (p.Gly1983Arg) c.3457G>A (p.Gly1153Arg) | |
10 | g.71798458G>C | CA377157977 | CDH23 | c.6934G>C (p.Gly2312Arg) c.867G>C (n.867G>C) c.531G>C (n.531G>C) c.6949G>C (p.Gly2317Arg) c.214G>C (p.Gly72Arg) n.470G>C c.7129G>C (p.Gly2377Arg) c.7063G>C (p.Gly2355Arg) c.7126G>C (p.Gly2376Arg) c.7123G>C (p.Gly2375Arg) c.7069G>C (p.Gly2357Arg) c.7039G>C (p.Gly2347Arg) c.6994G>C (p.Gly2332Arg) c.6589G>C (p.Gly2197Arg) c.5947G>C (p.Gly1983Arg) c.3457G>C (p.Gly1153Arg) | |
10 | g.71798458G>T | CA377157975 | CDH23 | c.6934G>T (p.Gly2312Trp) c.867G>T (n.867G>T) c.531G>T (n.531G>T) c.6949G>T (p.Gly2317Trp) c.214G>T (p.Gly72Trp) n.470G>T c.7129G>T (p.Gly2377Trp) c.7063G>T (p.Gly2355Trp) c.7126G>T (p.Gly2376Trp) c.7123G>T (p.Gly2375Trp) c.7069G>T (p.Gly2357Trp) c.7039G>T (p.Gly2347Trp) c.6994G>T (p.Gly2332Trp) c.6589G>T (p.Gly2197Trp) c.5947G>T (p.Gly1983Trp) c.3457G>T (p.Gly1153Trp) | gnomAD v4 |
10 | g.71798459G>A | CA377157980 | CDH23 | c.6935G>A (p.Gly2312Glu) c.868G>A (n.868G>A) c.532G>A (n.532G>A) c.6950G>A (p.Gly2317Glu) c.215G>A (p.Gly72Glu) n.471G>A c.7130G>A (p.Gly2377Glu) c.7064G>A (p.Gly2355Glu) c.7127G>A (p.Gly2376Glu) c.7124G>A (p.Gly2375Glu) c.7070G>A (p.Gly2357Glu) c.7040G>A (p.Gly2347Glu) c.6995G>A (p.Gly2332Glu) c.6590G>A (p.Gly2197Glu) c.5948G>A (p.Gly1983Glu) c.3458G>A (p.Gly1153Glu) | |
10 | g.71798459G>C | CA377157981 | CDH23 | c.6935G>C (p.Gly2312Ala) c.868G>C (n.868G>C) c.532G>C (n.532G>C) c.6950G>C (p.Gly2317Ala) c.215G>C (p.Gly72Ala) n.471G>C c.7130G>C (p.Gly2377Ala) c.7064G>C (p.Gly2355Ala) c.7127G>C (p.Gly2376Ala) c.7124G>C (p.Gly2375Ala) c.7070G>C (p.Gly2357Ala) c.7040G>C (p.Gly2347Ala) c.6995G>C (p.Gly2332Ala) c.6590G>C (p.Gly2197Ala) c.5948G>C (p.Gly1983Ala) c.3458G>C (p.Gly1153Ala) | |
10 | g.71798459G>T | CA377157983 | CDH23 | c.6935G>T (p.Gly2312Val) c.868G>T (n.868G>T) c.532G>T (n.532G>T) c.6950G>T (p.Gly2317Val) c.215G>T (p.Gly72Val) n.471G>T c.7130G>T (p.Gly2377Val) c.7064G>T (p.Gly2355Val) c.7127G>T (p.Gly2376Val) c.7124G>T (p.Gly2375Val) c.7070G>T (p.Gly2357Val) c.7040G>T (p.Gly2347Val) c.6995G>T (p.Gly2332Val) c.6590G>T (p.Gly2197Val) c.5948G>T (p.Gly1983Val) c.3458G>T (p.Gly1153Val) | |
10 | g.71798460G>A | CA470062033 | CDH23 | c.6936G>A (p.Gly2312=) c.869G>A (n.869G>A) c.533G>A (n.533G>A) c.6951G>A (p.Gly2317=) c.216G>A (p.Gly72=) n.472G>A c.7131G>A (p.Gly2377=) c.7065G>A (p.Gly2355=) c.7128G>A (p.Gly2376=) c.7125G>A (p.Gly2375=) c.7071G>A (p.Gly2357=) c.7041G>A (p.Gly2347=) c.6996G>A (p.Gly2332=) c.6591G>A (p.Gly2197=) c.5949G>A (p.Gly1983=) c.3459G>A (p.Gly1153=) | ClinVar dbSNP gnomAD v4 |
10 | g.71798460G>C | CA470062034 | CDH23 | c.6936G>C (p.Gly2312=) c.869G>C (n.869G>C) c.533G>C (n.533G>C) c.6951G>C (p.Gly2317=) c.216G>C (p.Gly72=) n.472G>C c.7131G>C (p.Gly2377=) c.7065G>C (p.Gly2355=) c.7128G>C (p.Gly2376=) c.7125G>C (p.Gly2375=) c.7071G>C (p.Gly2357=) c.7041G>C (p.Gly2347=) c.6996G>C (p.Gly2332=) c.6591G>C (p.Gly2197=) c.5949G>C (p.Gly1983=) c.3459G>C (p.Gly1153=) | |
10 | g.71798460G>T | CA470062035 | CDH23 | c.6936G>T (p.Gly2312=) c.869G>T (n.869G>T) c.533G>T (n.533G>T) c.6951G>T (p.Gly2317=) c.216G>T (p.Gly72=) n.472G>T c.7131G>T (p.Gly2377=) c.7065G>T (p.Gly2355=) c.7128G>T (p.Gly2376=) c.7125G>T (p.Gly2375=) c.7071G>T (p.Gly2357=) c.7041G>T (p.Gly2347=) c.6996G>T (p.Gly2332=) c.6591G>T (p.Gly2197=) c.5949G>T (p.Gly1983=) c.3459G>T (p.Gly1153=) | gnomAD v4 |
10 | g.71798461A= | CA1918878454 | CDH23 | c.6937A= (p.Thr2313=) c.870A= (n.870A=) c.534A= (n.534A=) c.6952A= (p.Thr2318=) c.217A= (p.Thr73=) n.473A= c.7132A= (p.Thr2378=) c.7066A= (p.Thr2356=) c.7129A= (p.Thr2377=) c.7126A= (p.Thr2376=) c.7072A= (p.Thr2358=) c.7042A= (p.Thr2348=) c.6997A= (p.Thr2333=) c.6592A= (p.Thr2198=) c.5950A= (p.Thr1984=) c.3460A= (p.Thr1154=) | |
10 | g.71798461A>C | CA377157985 | CDH23 | c.6937A>C (p.Thr2313Pro) c.870A>C (n.870A>C) c.534A>C (n.534A>C) c.6952A>C (p.Thr2318Pro) c.217A>C (p.Thr73Pro) n.473A>C c.7132A>C (p.Thr2378Pro) c.7066A>C (p.Thr2356Pro) c.7129A>C (p.Thr2377Pro) c.7126A>C (p.Thr2376Pro) c.7072A>C (p.Thr2358Pro) c.7042A>C (p.Thr2348Pro) c.6997A>C (p.Thr2333Pro) c.6592A>C (p.Thr2198Pro) c.5950A>C (p.Thr1984Pro) c.3460A>C (p.Thr1154Pro) | |
10 | g.71798461A>G | CA377157987 | CDH23 | c.6937A>G (p.Thr2313Ala) c.870A>G (n.870A>G) c.534A>G (n.534A>G) c.6952A>G (p.Thr2318Ala) c.217A>G (p.Thr73Ala) n.473A>G c.7132A>G (p.Thr2378Ala) c.7066A>G (p.Thr2356Ala) c.7129A>G (p.Thr2377Ala) c.7126A>G (p.Thr2376Ala) c.7072A>G (p.Thr2358Ala) c.7042A>G (p.Thr2348Ala) c.6997A>G (p.Thr2333Ala) c.6592A>G (p.Thr2198Ala) c.5950A>G (p.Thr1984Ala) c.3460A>G (p.Thr1154Ala) | |
10 | g.71798461A>T | CA377157988 | CDH23 | c.6937A>T (p.Thr2313Ser) c.870A>T (n.870A>T) c.534A>T (n.534A>T) c.6952A>T (p.Thr2318Ser) c.217A>T (p.Thr73Ser) n.473A>T c.7132A>T (p.Thr2378Ser) c.7066A>T (p.Thr2356Ser) c.7129A>T (p.Thr2377Ser) c.7126A>T (p.Thr2376Ser) c.7072A>T (p.Thr2358Ser) c.7042A>T (p.Thr2348Ser) c.6997A>T (p.Thr2333Ser) c.6592A>T (p.Thr2198Ser) c.5950A>T (p.Thr1984Ser) c.3460A>T (p.Thr1154Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798462C>A | CA377157991 | CDH23 | c.6938C>A (p.Thr2313Asn) c.871C>A (n.871C>A) c.535C>A (n.535C>A) c.6953C>A (p.Thr2318Asn) c.218C>A (p.Thr73Asn) n.474C>A c.7133C>A (p.Thr2378Asn) c.7067C>A (p.Thr2356Asn) c.7130C>A (p.Thr2377Asn) c.7127C>A (p.Thr2376Asn) c.7073C>A (p.Thr2358Asn) c.7043C>A (p.Thr2348Asn) c.6998C>A (p.Thr2333Asn) c.6593C>A (p.Thr2198Asn) c.5951C>A (p.Thr1984Asn) c.3461C>A (p.Thr1154Asn) | dbSNP gnomAD v4 |
10 | g.71798462C= | CA1918878455 | CDH23 | c.6938C= (p.Thr2313=) c.871C= (n.871C=) c.535C= (n.535C=) c.6953C= (p.Thr2318=) c.218C= (p.Thr73=) n.474C= c.7133C= (p.Thr2378=) c.7067C= (p.Thr2356=) c.7130C= (p.Thr2377=) c.7127C= (p.Thr2376=) c.7073C= (p.Thr2358=) c.7043C= (p.Thr2348=) c.6998C= (p.Thr2333=) c.6593C= (p.Thr2198=) c.5951C= (p.Thr1984=) c.3461C= (p.Thr1154=) | |
10 | g.71798462C>G | CA377157992 | CDH23 | c.6938C>G (p.Thr2313Ser) c.871C>G (n.871C>G) c.535C>G (n.535C>G) c.6953C>G (p.Thr2318Ser) c.218C>G (p.Thr73Ser) n.474C>G c.7133C>G (p.Thr2378Ser) c.7067C>G (p.Thr2356Ser) c.7130C>G (p.Thr2377Ser) c.7127C>G (p.Thr2376Ser) c.7073C>G (p.Thr2358Ser) c.7043C>G (p.Thr2348Ser) c.6998C>G (p.Thr2333Ser) c.6593C>G (p.Thr2198Ser) c.5951C>G (p.Thr1984Ser) c.3461C>G (p.Thr1154Ser) | |
10 | g.71798462C>T | CA377157993 | CDH23 | c.6938C>T (p.Thr2313Ile) c.871C>T (n.871C>T) c.535C>T (n.535C>T) c.6953C>T (p.Thr2318Ile) c.218C>T (p.Thr73Ile) n.474C>T c.7133C>T (p.Thr2378Ile) c.7067C>T (p.Thr2356Ile) c.7130C>T (p.Thr2377Ile) c.7127C>T (p.Thr2376Ile) c.7073C>T (p.Thr2358Ile) c.7043C>T (p.Thr2348Ile) c.6998C>T (p.Thr2333Ile) c.6593C>T (p.Thr2198Ile) c.5951C>T (p.Thr1984Ile) c.3461C>T (p.Thr1154Ile) | |
10 | g.71798463C>A | CA470062039 | CDH23 | c.6939C>A (p.Thr2313=) c.872C>A (n.872C>A) c.536C>A (n.536C>A) c.6954C>A (p.Thr2318=) c.219C>A (p.Thr73=) n.475C>A c.7134C>A (p.Thr2378=) c.7068C>A (p.Thr2356=) c.7131C>A (p.Thr2377=) c.7128C>A (p.Thr2376=) c.7074C>A (p.Thr2358=) c.7044C>A (p.Thr2348=) c.6999C>A (p.Thr2333=) c.6594C>A (p.Thr2198=) c.5952C>A (p.Thr1984=) c.3462C>A (p.Thr1154=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798463C= | CA1918878456 | CDH23 | c.6939C= (p.Thr2313=) c.872C= (n.872C=) c.536C= (n.536C=) c.6954C= (p.Thr2318=) c.219C= (p.Thr73=) n.475C= c.7134C= (p.Thr2378=) c.7068C= (p.Thr2356=) c.7131C= (p.Thr2377=) c.7128C= (p.Thr2376=) c.7074C= (p.Thr2358=) c.7044C= (p.Thr2348=) c.6999C= (p.Thr2333=) c.6594C= (p.Thr2198=) c.5952C= (p.Thr1984=) c.3462C= (p.Thr1154=) | |
10 | g.71798463C>G | CA470062040 | CDH23 | c.6939C>G (p.Thr2313=) c.872C>G (n.872C>G) c.536C>G (n.536C>G) c.6954C>G (p.Thr2318=) c.219C>G (p.Thr73=) n.475C>G c.7134C>G (p.Thr2378=) c.7068C>G (p.Thr2356=) c.7131C>G (p.Thr2377=) c.7128C>G (p.Thr2376=) c.7074C>G (p.Thr2358=) c.7044C>G (p.Thr2348=) c.6999C>G (p.Thr2333=) c.6594C>G (p.Thr2198=) c.5952C>G (p.Thr1984=) c.3462C>G (p.Thr1154=) | |
10 | g.71798463C>T | CA470062041 | CDH23 | c.6939C>T (p.Thr2313=) c.872C>T (n.872C>T) c.536C>T (n.536C>T) c.6954C>T (p.Thr2318=) c.219C>T (p.Thr73=) n.475C>T c.7134C>T (p.Thr2378=) c.7068C>T (p.Thr2356=) c.7131C>T (p.Thr2377=) c.7128C>T (p.Thr2376=) c.7074C>T (p.Thr2358=) c.7044C>T (p.Thr2348=) c.6999C>T (p.Thr2333=) c.6594C>T (p.Thr2198=) c.5952C>T (p.Thr1984=) c.3462C>T (p.Thr1154=) | |
10 | g.71798464A>C | CA377157995 | CDH23 | c.6940A>C (p.Thr2314Pro) c.873A>C (n.873A>C) c.537A>C (n.537A>C) c.6955A>C (p.Thr2319Pro) c.220A>C (p.Thr74Pro) n.476A>C c.7135A>C (p.Thr2379Pro) c.7069A>C (p.Thr2357Pro) c.7132A>C (p.Thr2378Pro) c.7129A>C (p.Thr2377Pro) c.7075A>C (p.Thr2359Pro) c.7045A>C (p.Thr2349Pro) c.7000A>C (p.Thr2334Pro) c.6595A>C (p.Thr2199Pro) c.5953A>C (p.Thr1985Pro) c.3463A>C (p.Thr1155Pro) | |
10 | g.71798464A>G | CA377157996 | CDH23 | c.6940A>G (p.Thr2314Ala) c.873A>G (n.873A>G) c.537A>G (n.537A>G) c.6955A>G (p.Thr2319Ala) c.220A>G (p.Thr74Ala) n.476A>G c.7135A>G (p.Thr2379Ala) c.7069A>G (p.Thr2357Ala) c.7132A>G (p.Thr2378Ala) c.7129A>G (p.Thr2377Ala) c.7075A>G (p.Thr2359Ala) c.7045A>G (p.Thr2349Ala) c.7000A>G (p.Thr2334Ala) c.6595A>G (p.Thr2199Ala) c.5953A>G (p.Thr1985Ala) c.3463A>G (p.Thr1155Ala) | |
10 | g.71798464A>T | CA377157998 | CDH23 | c.6940A>T (p.Thr2314Ser) c.873A>T (n.873A>T) c.537A>T (n.537A>T) c.6955A>T (p.Thr2319Ser) c.220A>T (p.Thr74Ser) n.476A>T c.7135A>T (p.Thr2379Ser) c.7069A>T (p.Thr2357Ser) c.7132A>T (p.Thr2378Ser) c.7129A>T (p.Thr2377Ser) c.7075A>T (p.Thr2359Ser) c.7045A>T (p.Thr2349Ser) c.7000A>T (p.Thr2334Ser) c.6595A>T (p.Thr2199Ser) c.5953A>T (p.Thr1985Ser) c.3463A>T (p.Thr1155Ser) | |
10 | g.71798465del | CA2574455491 | CDH23 | c.6941del (p.Thr2314AsnfsTer?) c.874del (n.874del) c.538del (n.538del) c.6956del (p.Thr2319AsnfsTer?) c.221del (p.Thr74AsnfsTer?) n.477del c.7136del (p.Thr2379AsnfsTer?) c.7070del (p.Thr2357AsnfsTer?) c.7133del (p.Thr2378AsnfsTer?) c.7130del (p.Thr2377AsnfsTer?) c.7076del (p.Thr2359AsnfsTer?) c.7046del (p.Thr2349AsnfsTer?) c.7001del (p.Thr2334AsnfsTer?) c.6596del (p.Thr2199AsnfsTer?) c.5954del (p.Thr1985AsnfsTer?) c.3464del (p.Thr1155AsnfsTer?) | |
10 | g.71798465C>A | CA377158000 | CDH23 | c.6941C>A (p.Thr2314Lys) c.874C>A (n.874C>A) c.538C>A (n.538C>A) c.6956C>A (p.Thr2319Lys) c.221C>A (p.Thr74Lys) n.477C>A c.7136C>A (p.Thr2379Lys) c.7070C>A (p.Thr2357Lys) c.7133C>A (p.Thr2378Lys) c.7130C>A (p.Thr2377Lys) c.7076C>A (p.Thr2359Lys) c.7046C>A (p.Thr2349Lys) c.7001C>A (p.Thr2334Lys) c.6596C>A (p.Thr2199Lys) c.5954C>A (p.Thr1985Lys) c.3464C>A (p.Thr1155Lys) | dbSNP |
10 | g.71798465C>G | CA377158002 | CDH23 | c.6941C>G (p.Thr2314Arg) c.874C>G (n.874C>G) c.538C>G (n.538C>G) c.6956C>G (p.Thr2319Arg) c.221C>G (p.Thr74Arg) n.477C>G c.7136C>G (p.Thr2379Arg) c.7070C>G (p.Thr2357Arg) c.7133C>G (p.Thr2378Arg) c.7130C>G (p.Thr2377Arg) c.7076C>G (p.Thr2359Arg) c.7046C>G (p.Thr2349Arg) c.7001C>G (p.Thr2334Arg) c.6596C>G (p.Thr2199Arg) c.5954C>G (p.Thr1985Arg) c.3464C>G (p.Thr1155Arg) | |
10 | g.71798465C>T | CA377157999 | CDH23 | c.6941C>T (p.Thr2314Ile) c.874C>T (n.874C>T) c.538C>T (n.538C>T) c.6956C>T (p.Thr2319Ile) c.221C>T (p.Thr74Ile) n.477C>T c.7136C>T (p.Thr2379Ile) c.7070C>T (p.Thr2357Ile) c.7133C>T (p.Thr2378Ile) c.7130C>T (p.Thr2377Ile) c.7076C>T (p.Thr2359Ile) c.7046C>T (p.Thr2349Ile) c.7001C>T (p.Thr2334Ile) c.6596C>T (p.Thr2199Ile) c.5954C>T (p.Thr1985Ile) c.3464C>T (p.Thr1155Ile) | |
10 | g.71798466del | CA2580081845 | CDH23 | c.6942del (p.Leu2315SerfsTer?) c.875del (n.875del) c.539del (n.539del) c.6957del (p.Leu2320SerfsTer?) c.222del (p.Leu75SerfsTer?) n.478del c.7137del (p.Leu2380SerfsTer?) c.7071del (p.Leu2358SerfsTer?) c.7134del (p.Leu2379SerfsTer?) c.7131del (p.Leu2378SerfsTer?) c.7077del (p.Leu2360SerfsTer?) c.7047del (p.Leu2350SerfsTer?) c.7002del (p.Leu2335SerfsTer?) c.6597del (p.Leu2200SerfsTer?) c.5955del (p.Leu1986SerfsTer?) c.3465del (p.Leu1156SerfsTer?) | ClinVar gnomAD v4 |
10 | g.71798466A>C | CA470062043 | CDH23 | c.6942A>C (p.Thr2314=) c.875A>C (n.875A>C) c.539A>C (n.539A>C) c.6957A>C (p.Thr2319=) c.222A>C (p.Thr74=) n.478A>C c.7137A>C (p.Thr2379=) c.7071A>C (p.Thr2357=) c.7134A>C (p.Thr2378=) c.7131A>C (p.Thr2377=) c.7077A>C (p.Thr2359=) c.7047A>C (p.Thr2349=) c.7002A>C (p.Thr2334=) c.6597A>C (p.Thr2199=) c.5955A>C (p.Thr1985=) c.3465A>C (p.Thr1155=) | |
10 | g.71798466A>G | CA470062044 | CDH23 | c.6942A>G (p.Thr2314=) c.875A>G (n.875A>G) c.539A>G (n.539A>G) c.6957A>G (p.Thr2319=) c.222A>G (p.Thr74=) n.478A>G c.7137A>G (p.Thr2379=) c.7071A>G (p.Thr2357=) c.7134A>G (p.Thr2378=) c.7131A>G (p.Thr2377=) c.7077A>G (p.Thr2359=) c.7047A>G (p.Thr2349=) c.7002A>G (p.Thr2334=) c.6597A>G (p.Thr2199=) c.5955A>G (p.Thr1985=) c.3465A>G (p.Thr1155=) | |
10 | g.71798466A>T | CA470062045 | CDH23 | c.6942A>T (p.Thr2314=) c.875A>T (n.875A>T) c.539A>T (n.539A>T) c.6957A>T (p.Thr2319=) c.222A>T (p.Thr74=) n.478A>T c.7137A>T (p.Thr2379=) c.7071A>T (p.Thr2357=) c.7134A>T (p.Thr2378=) c.7131A>T (p.Thr2377=) c.7077A>T (p.Thr2359=) c.7047A>T (p.Thr2349=) c.7002A>T (p.Thr2334=) c.6597A>T (p.Thr2199=) c.5955A>T (p.Thr1985=) c.3465A>T (p.Thr1155=) | gnomAD v4 |
10 | g.71798467C>A | CA377158003 | CDH23 | c.6943C>A (p.Leu2315Ile) c.876C>A (n.876C>A) c.540C>A (n.540C>A) c.6958C>A (p.Leu2320Ile) c.223C>A (p.Leu75Ile) n.479C>A c.7138C>A (p.Leu2380Ile) c.7072C>A (p.Leu2358Ile) c.7135C>A (p.Leu2379Ile) c.7132C>A (p.Leu2378Ile) c.7078C>A (p.Leu2360Ile) c.7048C>A (p.Leu2350Ile) c.7003C>A (p.Leu2335Ile) c.6598C>A (p.Leu2200Ile) c.5956C>A (p.Leu1986Ile) c.3466C>A (p.Leu1156Ile) | |
10 | g.71798467C>G | CA377158005 | CDH23 | c.6943C>G (p.Leu2315Val) c.876C>G (n.876C>G) c.540C>G (n.540C>G) c.6958C>G (p.Leu2320Val) c.223C>G (p.Leu75Val) n.479C>G c.7138C>G (p.Leu2380Val) c.7072C>G (p.Leu2358Val) c.7135C>G (p.Leu2379Val) c.7132C>G (p.Leu2378Val) c.7078C>G (p.Leu2360Val) c.7048C>G (p.Leu2350Val) c.7003C>G (p.Leu2335Val) c.6598C>G (p.Leu2200Val) c.5956C>G (p.Leu1986Val) c.3466C>G (p.Leu1156Val) | |
10 | g.71798467C>T | CA377158006 | CDH23 | c.6943C>T (p.Leu2315Phe) c.876C>T (n.876C>T) c.540C>T (n.540C>T) c.6958C>T (p.Leu2320Phe) c.223C>T (p.Leu75Phe) n.479C>T c.7138C>T (p.Leu2380Phe) c.7072C>T (p.Leu2358Phe) c.7135C>T (p.Leu2379Phe) c.7132C>T (p.Leu2378Phe) c.7078C>T (p.Leu2360Phe) c.7048C>T (p.Leu2350Phe) c.7003C>T (p.Leu2335Phe) c.6598C>T (p.Leu2200Phe) c.5956C>T (p.Leu1986Phe) c.3466C>T (p.Leu1156Phe) | |
10 | g.71798468_71798469del | CA2695199540 | CDH23 | c.6944_6945del (p.Leu2315HisfsTer9) c.877_878del (n.877_878del) c.541_542del (n.541_542del) c.6959_6960del (p.Leu2320HisfsTer9) c.224_225del (p.Leu75HisfsTer9) n.480_481del c.7139_7140del (p.Leu2380HisfsTer9) c.7073_7074del (p.Leu2358HisfsTer9) c.7136_7137del (p.Leu2379HisfsTer9) c.7133_7134del (p.Leu2378HisfsTer9) c.7079_7080del (p.Leu2360HisfsTer9) c.7049_7050del (p.Leu2350HisfsTer9) c.7004_7005del (p.Leu2335HisfsTer9) c.6599_6600del (p.Leu2200HisfsTer9) c.5957_5958del (p.Leu1986HisfsTer9) c.3467_3468del (p.Leu1156HisfsTer9) | ClinVar |
10 | g.71798468T>A | CA377158008 | CDH23 | c.6944T>A (p.Leu2315His) c.877T>A (n.877T>A) c.541T>A (n.541T>A) c.6959T>A (p.Leu2320His) c.224T>A (p.Leu75His) n.480T>A c.7139T>A (p.Leu2380His) c.7073T>A (p.Leu2358His) c.7136T>A (p.Leu2379His) c.7133T>A (p.Leu2378His) c.7079T>A (p.Leu2360His) c.7049T>A (p.Leu2350His) c.7004T>A (p.Leu2335His) c.6599T>A (p.Leu2200His) c.5957T>A (p.Leu1986His) c.3467T>A (p.Leu1156His) | |
10 | g.71798468T>C | CA377158009 | CDH23 | c.6944T>C (p.Leu2315Pro) c.877T>C (n.877T>C) c.541T>C (n.541T>C) c.6959T>C (p.Leu2320Pro) c.224T>C (p.Leu75Pro) n.480T>C c.7139T>C (p.Leu2380Pro) c.7073T>C (p.Leu2358Pro) c.7136T>C (p.Leu2379Pro) c.7133T>C (p.Leu2378Pro) c.7079T>C (p.Leu2360Pro) c.7049T>C (p.Leu2350Pro) c.7004T>C (p.Leu2335Pro) c.6599T>C (p.Leu2200Pro) c.5957T>C (p.Leu1986Pro) c.3467T>C (p.Leu1156Pro) | |
10 | g.71798468T>G | CA377158011 | CDH23 | c.6944T>G (p.Leu2315Arg) c.877T>G (n.877T>G) c.541T>G (n.541T>G) c.6959T>G (p.Leu2320Arg) c.224T>G (p.Leu75Arg) n.480T>G c.7139T>G (p.Leu2380Arg) c.7073T>G (p.Leu2358Arg) c.7136T>G (p.Leu2379Arg) c.7133T>G (p.Leu2378Arg) c.7079T>G (p.Leu2360Arg) c.7049T>G (p.Leu2350Arg) c.7004T>G (p.Leu2335Arg) c.6599T>G (p.Leu2200Arg) c.5957T>G (p.Leu1986Arg) c.3467T>G (p.Leu1156Arg) | |
10 | g.71798469C>A | CA470062046 | CDH23 | c.6945C>A (p.Leu2315=) c.878C>A (n.878C>A) c.542C>A (n.542C>A) c.6960C>A (p.Leu2320=) c.225C>A (p.Leu75=) n.481C>A c.7140C>A (p.Leu2380=) c.7074C>A (p.Leu2358=) c.7137C>A (p.Leu2379=) c.7134C>A (p.Leu2378=) c.7080C>A (p.Leu2360=) c.7050C>A (p.Leu2350=) c.7005C>A (p.Leu2335=) c.6600C>A (p.Leu2200=) c.5958C>A (p.Leu1986=) c.3468C>A (p.Leu1156=) | |
10 | g.71798469C= | CA1918878457 | CDH23 | c.6945C= (p.Leu2315=) c.878C= (n.878C=) c.542C= (n.542C=) c.6960C= (p.Leu2320=) c.225C= (p.Leu75=) n.481C= c.7140C= (p.Leu2380=) c.7074C= (p.Leu2358=) c.7137C= (p.Leu2379=) c.7134C= (p.Leu2378=) c.7080C= (p.Leu2360=) c.7050C= (p.Leu2350=) c.7005C= (p.Leu2335=) c.6600C= (p.Leu2200=) c.5958C= (p.Leu1986=) c.3468C= (p.Leu1156=) | |
10 | g.71798469C>G | CA470062048 | CDH23 | c.6945C>G (p.Leu2315=) c.878C>G (n.878C>G) c.542C>G (n.542C>G) c.6960C>G (p.Leu2320=) c.225C>G (p.Leu75=) n.481C>G c.7140C>G (p.Leu2380=) c.7074C>G (p.Leu2358=) c.7137C>G (p.Leu2379=) c.7134C>G (p.Leu2378=) c.7080C>G (p.Leu2360=) c.7050C>G (p.Leu2350=) c.7005C>G (p.Leu2335=) c.6600C>G (p.Leu2200=) c.5958C>G (p.Leu1986=) c.3468C>G (p.Leu1156=) | ClinVar dbSNP |
10 | g.71798469C>T | CA470062047 | CDH23 | c.6945C>T (p.Leu2315=) c.878C>T (n.878C>T) c.542C>T (n.542C>T) c.6960C>T (p.Leu2320=) c.225C>T (p.Leu75=) n.481C>T c.7140C>T (p.Leu2380=) c.7074C>T (p.Leu2358=) c.7137C>T (p.Leu2379=) c.7134C>T (p.Leu2378=) c.7080C>T (p.Leu2360=) c.7050C>T (p.Leu2350=) c.7005C>T (p.Leu2335=) c.6600C>T (p.Leu2200=) c.5958C>T (p.Leu1986=) c.3468C>T (p.Leu1156=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798470A>C | CA377158013 | CDH23 | c.6946A>C (p.Ile2316Leu) c.879A>C (n.879A>C) c.543A>C (n.543A>C) c.6961A>C (p.Ile2321Leu) c.226A>C (p.Ile76Leu) n.482A>C c.7141A>C (p.Ile2381Leu) c.7075A>C (p.Ile2359Leu) c.7138A>C (p.Ile2380Leu) c.7135A>C (p.Ile2379Leu) c.7081A>C (p.Ile2361Leu) c.7051A>C (p.Ile2351Leu) c.7006A>C (p.Ile2336Leu) c.6601A>C (p.Ile2201Leu) c.5959A>C (p.Ile1987Leu) c.3469A>C (p.Ile1157Leu) | |
10 | g.71798470A>G | CA377158016 | CDH23 | c.6946A>G (p.Ile2316Val) c.879A>G (n.879A>G) c.543A>G (n.543A>G) c.6961A>G (p.Ile2321Val) c.226A>G (p.Ile76Val) n.482A>G c.7141A>G (p.Ile2381Val) c.7075A>G (p.Ile2359Val) c.7138A>G (p.Ile2380Val) c.7135A>G (p.Ile2379Val) c.7081A>G (p.Ile2361Val) c.7051A>G (p.Ile2351Val) c.7006A>G (p.Ile2336Val) c.6601A>G (p.Ile2201Val) c.5959A>G (p.Ile1987Val) c.3469A>G (p.Ile1157Val) | |
10 | g.71798470A>T | CA377158015 | CDH23 | c.6946A>T (p.Ile2316Phe) c.879A>T (n.879A>T) c.543A>T (n.543A>T) c.6961A>T (p.Ile2321Phe) c.226A>T (p.Ile76Phe) n.482A>T c.7141A>T (p.Ile2381Phe) c.7075A>T (p.Ile2359Phe) c.7138A>T (p.Ile2380Phe) c.7135A>T (p.Ile2379Phe) c.7081A>T (p.Ile2361Phe) c.7051A>T (p.Ile2351Phe) c.7006A>T (p.Ile2336Phe) c.6601A>T (p.Ile2201Phe) c.5959A>T (p.Ile1987Phe) c.3469A>T (p.Ile1157Phe) | |
10 | g.71798471T>A | CA377158018 | CDH23 | c.6947T>A (p.Ile2316Asn) c.880T>A (n.880T>A) c.544T>A (n.544T>A) c.6962T>A (p.Ile2321Asn) c.227T>A (p.Ile76Asn) n.483T>A c.7142T>A (p.Ile2381Asn) c.7076T>A (p.Ile2359Asn) c.7139T>A (p.Ile2380Asn) c.7136T>A (p.Ile2379Asn) c.7082T>A (p.Ile2361Asn) c.7052T>A (p.Ile2351Asn) c.7007T>A (p.Ile2336Asn) c.6602T>A (p.Ile2201Asn) c.5960T>A (p.Ile1987Asn) c.3470T>A (p.Ile1157Asn) | |
10 | g.71798471T>C | CA377158019 | CDH23 | c.6947T>C (p.Ile2316Thr) c.880T>C (n.880T>C) c.544T>C (n.544T>C) c.6962T>C (p.Ile2321Thr) c.227T>C (p.Ile76Thr) n.483T>C c.7142T>C (p.Ile2381Thr) c.7076T>C (p.Ile2359Thr) c.7139T>C (p.Ile2380Thr) c.7136T>C (p.Ile2379Thr) c.7082T>C (p.Ile2361Thr) c.7052T>C (p.Ile2351Thr) c.7007T>C (p.Ile2336Thr) c.6602T>C (p.Ile2201Thr) c.5960T>C (p.Ile1987Thr) c.3470T>C (p.Ile1157Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798471T>G | CA377158021 | CDH23 | c.6947T>G (p.Ile2316Ser) c.880T>G (n.880T>G) c.544T>G (n.544T>G) c.6962T>G (p.Ile2321Ser) c.227T>G (p.Ile76Ser) n.483T>G c.7142T>G (p.Ile2381Ser) c.7076T>G (p.Ile2359Ser) c.7139T>G (p.Ile2380Ser) c.7136T>G (p.Ile2379Ser) c.7082T>G (p.Ile2361Ser) c.7052T>G (p.Ile2351Ser) c.7007T>G (p.Ile2336Ser) c.6602T>G (p.Ile2201Ser) c.5960T>G (p.Ile1987Ser) c.3470T>G (p.Ile1157Ser) | |
10 | g.71798471T= | CA1918878458 | CDH23 | c.6947T= (p.Ile2316=) c.880T= (n.880T=) c.544T= (n.544T=) c.6962T= (p.Ile2321=) c.227T= (p.Ile76=) n.483T= c.7142T= (p.Ile2381=) c.7076T= (p.Ile2359=) c.7139T= (p.Ile2380=) c.7136T= (p.Ile2379=) c.7082T= (p.Ile2361=) c.7052T= (p.Ile2351=) c.7007T= (p.Ile2336=) c.6602T= (p.Ile2201=) c.5960T= (p.Ile1987=) c.3470T= (p.Ile1157=) | |
10 | g.71798472T>A | CA470062052 | CDH23 | c.6948T>A (p.Ile2316=) c.881T>A (n.881T>A) c.545T>A (n.545T>A) c.6963T>A (p.Ile2321=) c.228T>A (p.Ile76=) n.484T>A c.7143T>A (p.Ile2381=) c.7077T>A (p.Ile2359=) c.7140T>A (p.Ile2380=) c.7137T>A (p.Ile2379=) c.7083T>A (p.Ile2361=) c.7053T>A (p.Ile2351=) c.7008T>A (p.Ile2336=) c.6603T>A (p.Ile2201=) c.5961T>A (p.Ile1987=) c.3471T>A (p.Ile1157=) | |
10 | g.71798472T>C | CA470062053 | CDH23 | c.6948T>C (p.Ile2316=) c.881T>C (n.881T>C) c.545T>C (n.545T>C) c.6963T>C (p.Ile2321=) c.228T>C (p.Ile76=) n.484T>C c.7143T>C (p.Ile2381=) c.7077T>C (p.Ile2359=) c.7140T>C (p.Ile2380=) c.7137T>C (p.Ile2379=) c.7083T>C (p.Ile2361=) c.7053T>C (p.Ile2351=) c.7008T>C (p.Ile2336=) c.6603T>C (p.Ile2201=) c.5961T>C (p.Ile1987=) c.3471T>C (p.Ile1157=) | |
10 | g.71798472T>G | CA377158023 | CDH23 | c.6948T>G (p.Ile2316Met) c.881T>G (n.881T>G) c.545T>G (n.545T>G) c.6963T>G (p.Ile2321Met) c.228T>G (p.Ile76Met) n.484T>G c.7143T>G (p.Ile2381Met) c.7077T>G (p.Ile2359Met) c.7140T>G (p.Ile2380Met) c.7137T>G (p.Ile2379Met) c.7083T>G (p.Ile2361Met) c.7053T>G (p.Ile2351Met) c.7008T>G (p.Ile2336Met) c.6603T>G (p.Ile2201Met) c.5961T>G (p.Ile1987Met) c.3471T>G (p.Ile1157Met) | |
10 | g.71798473G>A | CA377158027 | CDH23 | c.6949G>A (p.Ala2317Thr) c.882G>A (n.882G>A) c.546G>A (n.546G>A) c.6964G>A (p.Ala2322Thr) c.229G>A (p.Ala77Thr) n.485G>A c.7144G>A (p.Ala2382Thr) c.7078G>A (p.Ala2360Thr) c.7141G>A (p.Ala2381Thr) c.7138G>A (p.Ala2380Thr) c.7084G>A (p.Ala2362Thr) c.7054G>A (p.Ala2352Thr) c.7009G>A (p.Ala2337Thr) c.6604G>A (p.Ala2202Thr) c.5962G>A (p.Ala1988Thr) c.3472G>A (p.Ala1158Thr) | dbSNP |
10 | g.71798473G>C | CA377158025 | CDH23 | c.6949G>C (p.Ala2317Pro) c.882G>C (n.882G>C) c.546G>C (n.546G>C) c.6964G>C (p.Ala2322Pro) c.229G>C (p.Ala77Pro) n.485G>C c.7144G>C (p.Ala2382Pro) c.7078G>C (p.Ala2360Pro) c.7141G>C (p.Ala2381Pro) c.7138G>C (p.Ala2380Pro) c.7084G>C (p.Ala2362Pro) c.7054G>C (p.Ala2352Pro) c.7009G>C (p.Ala2337Pro) c.6604G>C (p.Ala2202Pro) c.5962G>C (p.Ala1988Pro) c.3472G>C (p.Ala1158Pro) | |
10 | g.71798473G= | CA1918878459 | CDH23 | c.6949G= (p.Ala2317=) c.882G= (n.882G=) c.546G= (n.546G=) c.6964G= (p.Ala2322=) c.229G= (p.Ala77=) n.485G= c.7144G= (p.Ala2382=) c.7078G= (p.Ala2360=) c.7141G= (p.Ala2381=) c.7138G= (p.Ala2380=) c.7084G= (p.Ala2362=) c.7054G= (p.Ala2352=) c.7009G= (p.Ala2337=) c.6604G= (p.Ala2202=) c.5962G= (p.Ala1988=) c.3472G= (p.Ala1158=) | |
10 | g.71798473G>T | CA175511 | CDH23 | c.6949G>T (p.Ala2317Ser) c.882G>T (n.882G>T) c.546G>T (n.546G>T) c.6964G>T (p.Ala2322Ser) c.229G>T (p.Ala77Ser) n.485G>T c.7144G>T (p.Ala2382Ser) c.7078G>T (p.Ala2360Ser) c.7141G>T (p.Ala2381Ser) c.7138G>T (p.Ala2380Ser) c.7084G>T (p.Ala2362Ser) c.7054G>T (p.Ala2352Ser) c.7009G>T (p.Ala2337Ser) c.6604G>T (p.Ala2202Ser) c.5962G>T (p.Ala1988Ser) c.3472G>T (p.Ala1158Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798474C>A | CA377158029 | CDH23 | c.6950C>A (p.Ala2317Asp) c.883C>A (n.883C>A) c.547C>A (n.547C>A) c.6965C>A (p.Ala2322Asp) c.230C>A (p.Ala77Asp) n.486C>A c.7145C>A (p.Ala2382Asp) c.7079C>A (p.Ala2360Asp) c.7142C>A (p.Ala2381Asp) c.7139C>A (p.Ala2380Asp) c.7085C>A (p.Ala2362Asp) c.7055C>A (p.Ala2352Asp) c.7010C>A (p.Ala2337Asp) c.6605C>A (p.Ala2202Asp) c.5963C>A (p.Ala1988Asp) c.3473C>A (p.Ala1158Asp) | |
10 | g.71798474C>G | CA377158030 | CDH23 | c.6950C>G (p.Ala2317Gly) c.883C>G (n.883C>G) c.547C>G (n.547C>G) c.6965C>G (p.Ala2322Gly) c.230C>G (p.Ala77Gly) n.486C>G c.7145C>G (p.Ala2382Gly) c.7079C>G (p.Ala2360Gly) c.7142C>G (p.Ala2381Gly) c.7139C>G (p.Ala2380Gly) c.7085C>G (p.Ala2362Gly) c.7055C>G (p.Ala2352Gly) c.7010C>G (p.Ala2337Gly) c.6605C>G (p.Ala2202Gly) c.5963C>G (p.Ala1988Gly) c.3473C>G (p.Ala1158Gly) | |
10 | g.71798474C>T | CA377158032 | CDH23 | c.6950C>T (p.Ala2317Val) c.883C>T (n.883C>T) c.547C>T (n.547C>T) c.6965C>T (p.Ala2322Val) c.230C>T (p.Ala77Val) n.486C>T c.7145C>T (p.Ala2382Val) c.7079C>T (p.Ala2360Val) c.7142C>T (p.Ala2381Val) c.7139C>T (p.Ala2380Val) c.7085C>T (p.Ala2362Val) c.7055C>T (p.Ala2352Val) c.7010C>T (p.Ala2337Val) c.6605C>T (p.Ala2202Val) c.5963C>T (p.Ala1988Val) c.3473C>T (p.Ala1158Val) | |
10 | g.71798475T>A | CA470062054 | CDH23 | c.6951T>A (p.Ala2317=) c.884T>A (n.884T>A) c.548T>A (n.548T>A) c.6966T>A (p.Ala2322=) c.231T>A (p.Ala77=) n.487T>A c.7146T>A (p.Ala2382=) c.7080T>A (p.Ala2360=) c.7143T>A (p.Ala2381=) c.7140T>A (p.Ala2380=) c.7086T>A (p.Ala2362=) c.7056T>A (p.Ala2352=) c.7011T>A (p.Ala2337=) c.6606T>A (p.Ala2202=) c.5964T>A (p.Ala1988=) c.3474T>A (p.Ala1158=) | |
10 | g.71798475T>C | CA470062056 | CDH23 | c.6951T>C (p.Ala2317=) c.884T>C (n.884T>C) c.548T>C (n.548T>C) c.6966T>C (p.Ala2322=) c.231T>C (p.Ala77=) n.487T>C c.7146T>C (p.Ala2382=) c.7080T>C (p.Ala2360=) c.7143T>C (p.Ala2381=) c.7140T>C (p.Ala2380=) c.7086T>C (p.Ala2362=) c.7056T>C (p.Ala2352=) c.7011T>C (p.Ala2337=) c.6606T>C (p.Ala2202=) c.5964T>C (p.Ala1988=) c.3474T>C (p.Ala1158=) | |
10 | g.71798475T>G | CA470062055 | CDH23 | c.6951T>G (p.Ala2317=) c.884T>G (n.884T>G) c.548T>G (n.548T>G) c.6966T>G (p.Ala2322=) c.231T>G (p.Ala77=) n.487T>G c.7146T>G (p.Ala2382=) c.7080T>G (p.Ala2360=) c.7143T>G (p.Ala2381=) c.7140T>G (p.Ala2380=) c.7086T>G (p.Ala2362=) c.7056T>G (p.Ala2352=) c.7011T>G (p.Ala2337=) c.6606T>G (p.Ala2202=) c.5964T>G (p.Ala1988=) c.3474T>G (p.Ala1158=) | |
10 | g.71798476G>A | CA377158033 | CDH23 | c.6952G>A (p.Val2318Met) c.885G>A (n.885G>A) c.549G>A (n.549G>A) c.6967G>A (p.Val2323Met) c.232G>A (p.Val78Met) n.488G>A c.7147G>A (p.Val2383Met) c.7081G>A (p.Val2361Met) c.7144G>A (p.Val2382Met) c.7141G>A (p.Val2381Met) c.7087G>A (p.Val2363Met) c.7057G>A (p.Val2353Met) c.7012G>A (p.Val2338Met) c.6607G>A (p.Val2203Met) c.5965G>A (p.Val1989Met) c.3475G>A (p.Val1159Met) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798476G>C | CA377158035 | CDH23 | c.6952G>C (p.Val2318Leu) c.885G>C (n.885G>C) c.549G>C (n.549G>C) c.6967G>C (p.Val2323Leu) c.232G>C (p.Val78Leu) n.488G>C c.7147G>C (p.Val2383Leu) c.7081G>C (p.Val2361Leu) c.7144G>C (p.Val2382Leu) c.7141G>C (p.Val2381Leu) c.7087G>C (p.Val2363Leu) c.7057G>C (p.Val2353Leu) c.7012G>C (p.Val2338Leu) c.6607G>C (p.Val2203Leu) c.5965G>C (p.Val1989Leu) c.3475G>C (p.Val1159Leu) | |
10 | g.71798476G= | CA1918878460 | CDH23 | c.6952G= (p.Val2318=) c.885G= (n.885G=) c.549G= (n.549G=) c.6967G= (p.Val2323=) c.232G= (p.Val78=) n.488G= c.7147G= (p.Val2383=) c.7081G= (p.Val2361=) c.7144G= (p.Val2382=) c.7141G= (p.Val2381=) c.7087G= (p.Val2363=) c.7057G= (p.Val2353=) c.7012G= (p.Val2338=) c.6607G= (p.Val2203=) c.5965G= (p.Val1989=) c.3475G= (p.Val1159=) | |
10 | g.71798476G>T | CA377158037 | CDH23 | c.6952G>T (p.Val2318Leu) c.885G>T (n.885G>T) c.549G>T (n.549G>T) c.6967G>T (p.Val2323Leu) c.232G>T (p.Val78Leu) n.488G>T c.7147G>T (p.Val2383Leu) c.7081G>T (p.Val2361Leu) c.7144G>T (p.Val2382Leu) c.7141G>T (p.Val2381Leu) c.7087G>T (p.Val2363Leu) c.7057G>T (p.Val2353Leu) c.7012G>T (p.Val2338Leu) c.6607G>T (p.Val2203Leu) c.5965G>T (p.Val1989Leu) c.3475G>T (p.Val1159Leu) | |
10 | g.71798477T>A | CA377158041 | CDH23 | c.6953T>A (p.Val2318Glu) c.886T>A (n.886T>A) c.550T>A (n.550T>A) c.6968T>A (p.Val2323Glu) c.233T>A (p.Val78Glu) n.489T>A c.7148T>A (p.Val2383Glu) c.7082T>A (p.Val2361Glu) c.7145T>A (p.Val2382Glu) c.7142T>A (p.Val2381Glu) c.7088T>A (p.Val2363Glu) c.7058T>A (p.Val2353Glu) c.7013T>A (p.Val2338Glu) c.6608T>A (p.Val2203Glu) c.5966T>A (p.Val1989Glu) c.3476T>A (p.Val1159Glu) | |
10 | g.71798477T>C | CA377158039 | CDH23 | c.6953T>C (p.Val2318Ala) c.886T>C (n.886T>C) c.550T>C (n.550T>C) c.6968T>C (p.Val2323Ala) c.233T>C (p.Val78Ala) n.489T>C c.7148T>C (p.Val2383Ala) c.7082T>C (p.Val2361Ala) c.7145T>C (p.Val2382Ala) c.7142T>C (p.Val2381Ala) c.7088T>C (p.Val2363Ala) c.7058T>C (p.Val2353Ala) c.7013T>C (p.Val2338Ala) c.6608T>C (p.Val2203Ala) c.5966T>C (p.Val1989Ala) c.3476T>C (p.Val1159Ala) | |
10 | g.71798477T>G | CA377158038 | CDH23 | c.6953T>G (p.Val2318Gly) c.886T>G (n.886T>G) c.550T>G (n.550T>G) c.6968T>G (p.Val2323Gly) c.233T>G (p.Val78Gly) n.489T>G c.7148T>G (p.Val2383Gly) c.7082T>G (p.Val2361Gly) c.7145T>G (p.Val2382Gly) c.7142T>G (p.Val2381Gly) c.7088T>G (p.Val2363Gly) c.7058T>G (p.Val2353Gly) c.7013T>G (p.Val2338Gly) c.6608T>G (p.Val2203Gly) c.5966T>G (p.Val1989Gly) c.3476T>G (p.Val1159Gly) | |
10 | g.71798478G>A | CA470062058 | CDH23 | c.6954G>A (p.Val2318=) c.887G>A (n.887G>A) c.551G>A (n.551G>A) c.6969G>A (p.Val2323=) c.234G>A (p.Val78=) n.490G>A c.7149G>A (p.Val2383=) c.7083G>A (p.Val2361=) c.7146G>A (p.Val2382=) c.7143G>A (p.Val2381=) c.7089G>A (p.Val2363=) c.7059G>A (p.Val2353=) c.7014G>A (p.Val2338=) c.6609G>A (p.Val2203=) c.5967G>A (p.Val1989=) c.3477G>A (p.Val1159=) | COSMIC |
10 | g.71798478G>C | CA470062059 | CDH23 | c.6954G>C (p.Val2318=) c.887G>C (n.887G>C) c.551G>C (n.551G>C) c.6969G>C (p.Val2323=) c.234G>C (p.Val78=) n.490G>C c.7149G>C (p.Val2383=) c.7083G>C (p.Val2361=) c.7146G>C (p.Val2382=) c.7143G>C (p.Val2381=) c.7089G>C (p.Val2363=) c.7059G>C (p.Val2353=) c.7014G>C (p.Val2338=) c.6609G>C (p.Val2203=) c.5967G>C (p.Val1989=) c.3477G>C (p.Val1159=) | ClinVar dbSNP |
10 | g.71798478G>T | CA470062060 | CDH23 | c.6954G>T (p.Val2318=) c.887G>T (n.887G>T) c.551G>T (n.551G>T) c.6969G>T (p.Val2323=) c.234G>T (p.Val78=) n.490G>T c.7149G>T (p.Val2383=) c.7083G>T (p.Val2361=) c.7146G>T (p.Val2382=) c.7143G>T (p.Val2381=) c.7089G>T (p.Val2363=) c.7059G>T (p.Val2353=) c.7014G>T (p.Val2338=) c.6609G>T (p.Val2203=) c.5967G>T (p.Val1989=) c.3477G>T (p.Val1159=) | |
10 | g.71798479G>A | CA377158045 | CDH23 | c.6955G>A (p.Ala2319Thr) c.888G>A (n.888G>A) c.552G>A (n.552G>A) c.6970G>A (p.Ala2324Thr) c.235G>A (p.Ala79Thr) n.491G>A c.7150G>A (p.Ala2384Thr) c.7084G>A (p.Ala2362Thr) c.7147G>A (p.Ala2383Thr) c.7144G>A (p.Ala2382Thr) c.7090G>A (p.Ala2364Thr) c.7060G>A (p.Ala2354Thr) c.7015G>A (p.Ala2339Thr) c.6610G>A (p.Ala2204Thr) c.5968G>A (p.Ala1990Thr) c.3478G>A (p.Ala1160Thr) | dbSNP gnomAD v4 |
10 | g.71798479G>C | CA377158047 | CDH23 | c.6955G>C (p.Ala2319Pro) c.888G>C (n.888G>C) c.552G>C (n.552G>C) c.6970G>C (p.Ala2324Pro) c.235G>C (p.Ala79Pro) n.491G>C c.7150G>C (p.Ala2384Pro) c.7084G>C (p.Ala2362Pro) c.7147G>C (p.Ala2383Pro) c.7144G>C (p.Ala2382Pro) c.7090G>C (p.Ala2364Pro) c.7060G>C (p.Ala2354Pro) c.7015G>C (p.Ala2339Pro) c.6610G>C (p.Ala2204Pro) c.5968G>C (p.Ala1990Pro) c.3478G>C (p.Ala1160Pro) | gnomAD v4 |
10 | g.71798479G>T | CA377158049 | CDH23 | c.6955G>T (p.Ala2319Ser) c.888G>T (n.888G>T) c.552G>T (n.552G>T) c.6970G>T (p.Ala2324Ser) c.235G>T (p.Ala79Ser) n.491G>T c.7150G>T (p.Ala2384Ser) c.7084G>T (p.Ala2362Ser) c.7147G>T (p.Ala2383Ser) c.7144G>T (p.Ala2382Ser) c.7090G>T (p.Ala2364Ser) c.7060G>T (p.Ala2354Ser) c.7015G>T (p.Ala2339Ser) c.6610G>T (p.Ala2204Ser) c.5968G>T (p.Ala1990Ser) c.3478G>T (p.Ala1160Ser) | |
10 | g.71798480C>A | CA377158050 | CDH23 | c.6956C>A (p.Ala2319Glu) c.889C>A (n.889C>A) c.553C>A (n.553C>A) c.6971C>A (p.Ala2324Glu) c.236C>A (p.Ala79Glu) n.492C>A c.7151C>A (p.Ala2384Glu) c.7085C>A (p.Ala2362Glu) c.7148C>A (p.Ala2383Glu) c.7145C>A (p.Ala2382Glu) c.7091C>A (p.Ala2364Glu) c.7061C>A (p.Ala2354Glu) c.7016C>A (p.Ala2339Glu) c.6611C>A (p.Ala2204Glu) c.5969C>A (p.Ala1990Glu) c.3479C>A (p.Ala1160Glu) | |
10 | g.71798480C>G | CA377158051 | CDH23 | c.6956C>G (p.Ala2319Gly) c.889C>G (n.889C>G) c.553C>G (n.553C>G) c.6971C>G (p.Ala2324Gly) c.236C>G (p.Ala79Gly) n.492C>G c.7151C>G (p.Ala2384Gly) c.7085C>G (p.Ala2362Gly) c.7148C>G (p.Ala2383Gly) c.7145C>G (p.Ala2382Gly) c.7091C>G (p.Ala2364Gly) c.7061C>G (p.Ala2354Gly) c.7016C>G (p.Ala2339Gly) c.6611C>G (p.Ala2204Gly) c.5969C>G (p.Ala1990Gly) c.3479C>G (p.Ala1160Gly) | |
10 | g.71798480C>T | CA377158053 | CDH23 | c.6956C>T (p.Ala2319Val) c.889C>T (n.889C>T) c.553C>T (n.553C>T) c.6971C>T (p.Ala2324Val) c.236C>T (p.Ala79Val) n.492C>T c.7151C>T (p.Ala2384Val) c.7085C>T (p.Ala2362Val) c.7148C>T (p.Ala2383Val) c.7145C>T (p.Ala2382Val) c.7091C>T (p.Ala2364Val) c.7061C>T (p.Ala2354Val) c.7016C>T (p.Ala2339Val) c.6611C>T (p.Ala2204Val) c.5969C>T (p.Ala1990Val) c.3479C>T (p.Ala1160Val) | |
10 | g.71798481A>C | CA470062061 | CDH23 | c.6957A>C (p.Ala2319=) c.890A>C (n.890A>C) c.554A>C (n.554A>C) c.6972A>C (p.Ala2324=) c.237A>C (p.Ala79=) n.493A>C c.7152A>C (p.Ala2384=) c.7086A>C (p.Ala2362=) c.7149A>C (p.Ala2383=) c.7146A>C (p.Ala2382=) c.7092A>C (p.Ala2364=) c.7062A>C (p.Ala2354=) c.7017A>C (p.Ala2339=) c.6612A>C (p.Ala2204=) c.5970A>C (p.Ala1990=) c.3480A>C (p.Ala1160=) | |
10 | g.71798481A>G | CA470062063 | CDH23 | c.6957A>G (p.Ala2319=) c.890A>G (n.890A>G) c.554A>G (n.554A>G) c.6972A>G (p.Ala2324=) c.237A>G (p.Ala79=) n.493A>G c.7152A>G (p.Ala2384=) c.7086A>G (p.Ala2362=) c.7149A>G (p.Ala2383=) c.7146A>G (p.Ala2382=) c.7092A>G (p.Ala2364=) c.7062A>G (p.Ala2354=) c.7017A>G (p.Ala2339=) c.6612A>G (p.Ala2204=) c.5970A>G (p.Ala1990=) c.3480A>G (p.Ala1160=) | |
10 | g.71798481A>T | CA470062064 | CDH23 | c.6957A>T (p.Ala2319=) c.890A>T (n.890A>T) c.554A>T (n.554A>T) c.6972A>T (p.Ala2324=) c.237A>T (p.Ala79=) n.493A>T c.7152A>T (p.Ala2384=) c.7086A>T (p.Ala2362=) c.7149A>T (p.Ala2383=) c.7146A>T (p.Ala2382=) c.7092A>T (p.Ala2364=) c.7062A>T (p.Ala2354=) c.7017A>T (p.Ala2339=) c.6612A>T (p.Ala2204=) c.5970A>T (p.Ala1990=) c.3480A>T (p.Ala1160=) | |
10 | g.71798482G>A | CA377158055 | CDH23 | c.6958G>A (p.Ala2320Thr) c.891G>A (n.891G>A) c.555G>A (n.555G>A) c.6973G>A (p.Ala2325Thr) c.238G>A (p.Ala80Thr) n.494G>A c.7153G>A (p.Ala2385Thr) c.7087G>A (p.Ala2363Thr) c.7150G>A (p.Ala2384Thr) c.7147G>A (p.Ala2383Thr) c.7093G>A (p.Ala2365Thr) c.7063G>A (p.Ala2355Thr) c.7018G>A (p.Ala2340Thr) c.6613G>A (p.Ala2205Thr) c.5971G>A (p.Ala1991Thr) c.3481G>A (p.Ala1161Thr) | |
10 | g.71798482G>C | CA377158058 | CDH23 | c.6958G>C (p.Ala2320Pro) c.891G>C (n.891G>C) c.555G>C (n.555G>C) c.6973G>C (p.Ala2325Pro) c.238G>C (p.Ala80Pro) n.494G>C c.7153G>C (p.Ala2385Pro) c.7087G>C (p.Ala2363Pro) c.7150G>C (p.Ala2384Pro) c.7147G>C (p.Ala2383Pro) c.7093G>C (p.Ala2365Pro) c.7063G>C (p.Ala2355Pro) c.7018G>C (p.Ala2340Pro) c.6613G>C (p.Ala2205Pro) c.5971G>C (p.Ala1991Pro) c.3481G>C (p.Ala1161Pro) | |
10 | g.71798482G= | CA1918878461 | CDH23 | c.6958G= (p.Ala2320=) c.891G= (n.891G=) c.555G= (n.555G=) c.6973G= (p.Ala2325=) c.238G= (p.Ala80=) n.494G= c.7153G= (p.Ala2385=) c.7087G= (p.Ala2363=) c.7150G= (p.Ala2384=) c.7147G= (p.Ala2383=) c.7093G= (p.Ala2365=) c.7063G= (p.Ala2355=) c.7018G= (p.Ala2340=) c.6613G= (p.Ala2205=) c.5971G= (p.Ala1991=) c.3481G= (p.Ala1161=) | |
10 | g.71798482G>T | CA377158057 | CDH23 | c.6958G>T (p.Ala2320Ser) c.891G>T (n.891G>T) c.555G>T (n.555G>T) c.6973G>T (p.Ala2325Ser) c.238G>T (p.Ala80Ser) n.494G>T c.7153G>T (p.Ala2385Ser) c.7087G>T (p.Ala2363Ser) c.7150G>T (p.Ala2384Ser) c.7147G>T (p.Ala2383Ser) c.7093G>T (p.Ala2365Ser) c.7063G>T (p.Ala2355Ser) c.7018G>T (p.Ala2340Ser) c.6613G>T (p.Ala2205Ser) c.5971G>T (p.Ala1991Ser) c.3481G>T (p.Ala1161Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798482_71798490delinsGCCGTGGAC | CA1918878462 | CDH23 | c.6958_6966delinsGCCGTGGAC (p.Ala2320=) c.891_899delinsGCCGTGGAC (n.891_899delinsGCCGTGGAC) c.555_563delinsGCCGTGGAC (n.555_563delinsGCCGTGGAC) c.6973_6981delinsGCCGTGGAC (p.Ala2325=) c.238_246delinsGCCGTGGAC (p.Ala80=) n.494_502delinsGCCGTGGAC c.7153_7161delinsGCCGTGGAC (p.Ala2385=) c.7087_7095delinsGCCGTGGAC (p.Ala2363=) c.7150_7158delinsGCCGTGGAC (p.Ala2384=) c.7147_7155delinsGCCGTGGAC (p.Ala2383=) c.7093_7101delinsGCCGTGGAC (p.Ala2365=) c.7063_7071delinsGCCGTGGAC (p.Ala2355=) c.7018_7026delinsGCCGTGGAC (p.Ala2340=) c.6613_6621delinsGCCGTGGAC (p.Ala2205=) c.5971_5979delinsGCCGTGGAC (p.Ala1991=) c.3481_3489delinsGCCGTGGAC (p.Ala1161=) | |
10 | g.71798483C>A | CA377158060 | CDH23 | c.6959C>A (p.Ala2320Asp) c.892C>A (n.892C>A) c.556C>A (n.556C>A) c.6974C>A (p.Ala2325Asp) c.239C>A (p.Ala80Asp) n.495C>A c.7154C>A (p.Ala2385Asp) c.7088C>A (p.Ala2363Asp) c.7151C>A (p.Ala2384Asp) c.7148C>A (p.Ala2383Asp) c.7094C>A (p.Ala2365Asp) c.7064C>A (p.Ala2355Asp) c.7019C>A (p.Ala2340Asp) c.6614C>A (p.Ala2205Asp) c.5972C>A (p.Ala1991Asp) c.3482C>A (p.Ala1161Asp) | dbSNP |
10 | g.71798483C= | CA1918878463 | CDH23 | c.6959C= (p.Ala2320=) c.892C= (n.892C=) c.556C= (n.556C=) c.6974C= (p.Ala2325=) c.239C= (p.Ala80=) n.495C= c.7154C= (p.Ala2385=) c.7088C= (p.Ala2363=) c.7151C= (p.Ala2384=) c.7148C= (p.Ala2383=) c.7094C= (p.Ala2365=) c.7064C= (p.Ala2355=) c.7019C= (p.Ala2340=) c.6614C= (p.Ala2205=) c.5972C= (p.Ala1991=) c.3482C= (p.Ala1161=) | |
10 | g.71798483C>G | CA377158062 | CDH23 | c.6959C>G (p.Ala2320Gly) c.892C>G (n.892C>G) c.556C>G (n.556C>G) c.6974C>G (p.Ala2325Gly) c.239C>G (p.Ala80Gly) n.495C>G c.7154C>G (p.Ala2385Gly) c.7088C>G (p.Ala2363Gly) c.7151C>G (p.Ala2384Gly) c.7148C>G (p.Ala2383Gly) c.7094C>G (p.Ala2365Gly) c.7064C>G (p.Ala2355Gly) c.7019C>G (p.Ala2340Gly) c.6614C>G (p.Ala2205Gly) c.5972C>G (p.Ala1991Gly) c.3482C>G (p.Ala1161Gly) | dbSNP |
10 | g.71798483C>T | CA209469626 | CDH23 | c.6959C>T (p.Ala2320Val) c.892C>T (n.892C>T) c.556C>T (n.556C>T) c.6974C>T (p.Ala2325Val) c.239C>T (p.Ala80Val) n.495C>T c.7154C>T (p.Ala2385Val) c.7088C>T (p.Ala2363Val) c.7151C>T (p.Ala2384Val) c.7148C>T (p.Ala2383Val) c.7094C>T (p.Ala2365Val) c.7064C>T (p.Ala2355Val) c.7019C>T (p.Ala2340Val) c.6614C>T (p.Ala2205Val) c.5972C>T (p.Ala1991Val) c.3482C>T (p.Ala1161Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798485_71798492del | CA1918878464 | CDH23 | c.6961_6968del (p.Val2321Ter) c.894_901del (n.894_901del) c.558_565del (n.558_565del) c.6976_6983del (p.Val2326Ter) c.241_248del (p.Val81Ter) n.497_504del c.7156_7163del (p.Val2386Ter) c.7090_7097del (p.Val2364Ter) c.7153_7160del (p.Val2385Ter) c.7150_7157del (p.Val2384Ter) c.7096_7103del (p.Val2366Ter) c.7066_7073del (p.Val2356Ter) c.7021_7028del (p.Val2341Ter) c.6616_6623del (p.Val2206Ter) c.5974_5981del (p.Val1992Ter) c.3484_3491del (p.Val1162Ter) | ClinVar dbSNP |
10 | g.71798484C>A | CA470062067 | CDH23 | c.6960C>A (p.Ala2320=) c.893C>A (n.893C>A) c.557C>A (n.557C>A) c.6975C>A (p.Ala2325=) c.240C>A (p.Ala80=) n.496C>A c.7155C>A (p.Ala2385=) c.7089C>A (p.Ala2363=) c.7152C>A (p.Ala2384=) c.7149C>A (p.Ala2383=) c.7095C>A (p.Ala2365=) c.7065C>A (p.Ala2355=) c.7020C>A (p.Ala2340=) c.6615C>A (p.Ala2205=) c.5973C>A (p.Ala1991=) c.3483C>A (p.Ala1161=) | |
10 | g.71798484C= | CA1918878465 | CDH23 | c.6960C= (p.Ala2320=) c.893C= (n.893C=) c.557C= (n.557C=) c.6975C= (p.Ala2325=) c.240C= (p.Ala80=) n.496C= c.7155C= (p.Ala2385=) c.7089C= (p.Ala2363=) c.7152C= (p.Ala2384=) c.7149C= (p.Ala2383=) c.7095C= (p.Ala2365=) c.7065C= (p.Ala2355=) c.7020C= (p.Ala2340=) c.6615C= (p.Ala2205=) c.5973C= (p.Ala1991=) c.3483C= (p.Ala1161=) | |
10 | g.71798484C>G | CA470062065 | CDH23 | c.6960C>G (p.Ala2320=) c.893C>G (n.893C>G) c.557C>G (n.557C>G) c.6975C>G (p.Ala2325=) c.240C>G (p.Ala80=) n.496C>G c.7155C>G (p.Ala2385=) c.7089C>G (p.Ala2363=) c.7152C>G (p.Ala2384=) c.7149C>G (p.Ala2383=) c.7095C>G (p.Ala2365=) c.7065C>G (p.Ala2355=) c.7020C>G (p.Ala2340=) c.6615C>G (p.Ala2205=) c.5973C>G (p.Ala1991=) c.3483C>G (p.Ala1161=) | |
10 | g.71798484C>T | CA470062066 | CDH23 | c.6960C>T (p.Ala2320=) c.893C>T (n.893C>T) c.557C>T (n.557C>T) c.6975C>T (p.Ala2325=) c.240C>T (p.Ala80=) n.496C>T c.7155C>T (p.Ala2385=) c.7089C>T (p.Ala2363=) c.7152C>T (p.Ala2384=) c.7149C>T (p.Ala2383=) c.7095C>T (p.Ala2365=) c.7065C>T (p.Ala2355=) c.7020C>T (p.Ala2340=) c.6615C>T (p.Ala2205=) c.5973C>T (p.Ala1991=) c.3483C>T (p.Ala1161=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798485G>A | CA5546227 | CDH23 | c.6961G>A (p.Val2321Met) c.894G>A (n.894G>A) c.558G>A (n.558G>A) c.6976G>A (p.Val2326Met) c.241G>A (p.Val81Met) n.497G>A c.7156G>A (p.Val2386Met) c.7090G>A (p.Val2364Met) c.7153G>A (p.Val2385Met) c.7150G>A (p.Val2384Met) c.7096G>A (p.Val2366Met) c.7066G>A (p.Val2356Met) c.7021G>A (p.Val2341Met) c.6616G>A (p.Val2206Met) c.5974G>A (p.Val1992Met) c.3484G>A (p.Val1162Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798485G>C | CA377158064 | CDH23 | c.6961G>C (p.Val2321Leu) c.894G>C (n.894G>C) c.558G>C (n.558G>C) c.6976G>C (p.Val2326Leu) c.241G>C (p.Val81Leu) n.497G>C c.7156G>C (p.Val2386Leu) c.7090G>C (p.Val2364Leu) c.7153G>C (p.Val2385Leu) c.7150G>C (p.Val2384Leu) c.7096G>C (p.Val2366Leu) c.7066G>C (p.Val2356Leu) c.7021G>C (p.Val2341Leu) c.6616G>C (p.Val2206Leu) c.5974G>C (p.Val1992Leu) c.3484G>C (p.Val1162Leu) | dbSNP |
10 | g.71798485G= | CA1918878466 | CDH23 | c.6961G= (p.Val2321=) c.894G= (n.894G=) c.558G= (n.558G=) c.6976G= (p.Val2326=) c.241G= (p.Val81=) n.497G= c.7156G= (p.Val2386=) c.7090G= (p.Val2364=) c.7153G= (p.Val2385=) c.7150G= (p.Val2384=) c.7096G= (p.Val2366=) c.7066G= (p.Val2356=) c.7021G= (p.Val2341=) c.6616G= (p.Val2206=) c.5974G= (p.Val1992=) c.3484G= (p.Val1162=) | |
10 | g.71798485G>T | CA377158066 | CDH23 | c.6961G>T (p.Val2321Leu) c.894G>T (n.894G>T) c.558G>T (n.558G>T) c.6976G>T (p.Val2326Leu) c.241G>T (p.Val81Leu) n.497G>T c.7156G>T (p.Val2386Leu) c.7090G>T (p.Val2364Leu) c.7153G>T (p.Val2385Leu) c.7150G>T (p.Val2384Leu) c.7096G>T (p.Val2366Leu) c.7066G>T (p.Val2356Leu) c.7021G>T (p.Val2341Leu) c.6616G>T (p.Val2206Leu) c.5974G>T (p.Val1992Leu) c.3484G>T (p.Val1162Leu) | |
10 | g.71798486T>A | CA377158068 | CDH23 | c.6962T>A (p.Val2321Glu) c.895T>A (n.895T>A) c.559T>A (n.559T>A) c.6977T>A (p.Val2326Glu) c.242T>A (p.Val81Glu) n.498T>A c.7157T>A (p.Val2386Glu) c.7091T>A (p.Val2364Glu) c.7154T>A (p.Val2385Glu) c.7151T>A (p.Val2384Glu) c.7097T>A (p.Val2366Glu) c.7067T>A (p.Val2356Glu) c.7022T>A (p.Val2341Glu) c.6617T>A (p.Val2206Glu) c.5975T>A (p.Val1992Glu) c.3485T>A (p.Val1162Glu) | |
10 | g.71798486T>C | CA377158069 | CDH23 | c.6962T>C (p.Val2321Ala) c.895T>C (n.895T>C) c.559T>C (n.559T>C) c.6977T>C (p.Val2326Ala) c.242T>C (p.Val81Ala) n.498T>C c.7157T>C (p.Val2386Ala) c.7091T>C (p.Val2364Ala) c.7154T>C (p.Val2385Ala) c.7151T>C (p.Val2384Ala) c.7097T>C (p.Val2366Ala) c.7067T>C (p.Val2356Ala) c.7022T>C (p.Val2341Ala) c.6617T>C (p.Val2206Ala) c.5975T>C (p.Val1992Ala) c.3485T>C (p.Val1162Ala) | gnomAD v4 |
10 | g.71798486T>G | CA377158070 | CDH23 | c.6962T>G (p.Val2321Gly) c.895T>G (n.895T>G) c.559T>G (n.559T>G) c.6977T>G (p.Val2326Gly) c.242T>G (p.Val81Gly) n.498T>G c.7157T>G (p.Val2386Gly) c.7091T>G (p.Val2364Gly) c.7154T>G (p.Val2385Gly) c.7151T>G (p.Val2384Gly) c.7097T>G (p.Val2366Gly) c.7067T>G (p.Val2356Gly) c.7022T>G (p.Val2341Gly) c.6617T>G (p.Val2206Gly) c.5975T>G (p.Val1992Gly) c.3485T>G (p.Val1162Gly) | dbSNP |
10 | g.71798486T= | CA1918878467 | CDH23 | c.6962T= (p.Val2321=) c.895T= (n.895T=) c.559T= (n.559T=) c.6977T= (p.Val2326=) c.242T= (p.Val81=) n.498T= c.7157T= (p.Val2386=) c.7091T= (p.Val2364=) c.7154T= (p.Val2385=) c.7151T= (p.Val2384=) c.7097T= (p.Val2366=) c.7067T= (p.Val2356=) c.7022T= (p.Val2341=) c.6617T= (p.Val2206=) c.5975T= (p.Val1992=) c.3485T= (p.Val1162=) | |
10 | g.71798487G>A | CA470062069 | CDH23 | c.6963G>A (p.Val2321=) c.896G>A (n.896G>A) c.560G>A (n.560G>A) c.6978G>A (p.Val2326=) c.243G>A (p.Val81=) n.499G>A c.7158G>A (p.Val2386=) c.7092G>A (p.Val2364=) c.7155G>A (p.Val2385=) c.7152G>A (p.Val2384=) c.7098G>A (p.Val2366=) c.7068G>A (p.Val2356=) c.7023G>A (p.Val2341=) c.6618G>A (p.Val2206=) c.5976G>A (p.Val1992=) c.3486G>A (p.Val1162=) | ClinVar dbSNP gnomAD v4 |
10 | g.71798487G>C | CA470062070 | CDH23 | c.6963G>C (p.Val2321=) c.896G>C (n.896G>C) c.560G>C (n.560G>C) c.6978G>C (p.Val2326=) c.243G>C (p.Val81=) n.499G>C c.7158G>C (p.Val2386=) c.7092G>C (p.Val2364=) c.7155G>C (p.Val2385=) c.7152G>C (p.Val2384=) c.7098G>C (p.Val2366=) c.7068G>C (p.Val2356=) c.7023G>C (p.Val2341=) c.6618G>C (p.Val2206=) c.5976G>C (p.Val1992=) c.3486G>C (p.Val1162=) | |
10 | g.71798487G>T | CA470062071 | CDH23 | c.6963G>T (p.Val2321=) c.896G>T (n.896G>T) c.560G>T (n.560G>T) c.6978G>T (p.Val2326=) c.243G>T (p.Val81=) n.499G>T c.7158G>T (p.Val2386=) c.7092G>T (p.Val2364=) c.7155G>T (p.Val2385=) c.7152G>T (p.Val2384=) c.7098G>T (p.Val2366=) c.7068G>T (p.Val2356=) c.7023G>T (p.Val2341=) c.6618G>T (p.Val2206=) c.5976G>T (p.Val1992=) c.3486G>T (p.Val1162=) | |
10 | g.71798488G>A | CA377158071 | CDH23 | c.6964G>A (p.Asp2322Asn) c.897G>A (n.897G>A) c.561G>A (n.561G>A) c.6979G>A (p.Asp2327Asn) c.244G>A (p.Asp82Asn) n.500G>A c.7159G>A (p.Asp2387Asn) c.7093G>A (p.Asp2365Asn) c.7156G>A (p.Asp2386Asn) c.7153G>A (p.Asp2385Asn) c.7099G>A (p.Asp2367Asn) c.7069G>A (p.Asp2357Asn) c.7024G>A (p.Asp2342Asn) c.6619G>A (p.Asp2207Asn) c.5977G>A (p.Asp1993Asn) c.3487G>A (p.Asp1163Asn) | gnomAD v4 |
10 | g.71798488G>C | CA377158072 | CDH23 | c.6964G>C (p.Asp2322His) c.897G>C (n.897G>C) c.561G>C (n.561G>C) c.6979G>C (p.Asp2327His) c.244G>C (p.Asp82His) n.500G>C c.7159G>C (p.Asp2387His) c.7093G>C (p.Asp2365His) c.7156G>C (p.Asp2386His) c.7153G>C (p.Asp2385His) c.7099G>C (p.Asp2367His) c.7069G>C (p.Asp2357His) c.7024G>C (p.Asp2342His) c.6619G>C (p.Asp2207His) c.5977G>C (p.Asp1993His) c.3487G>C (p.Asp1163His) | |
10 | g.71798488G>T | CA377158073 | CDH23 | c.6964G>T (p.Asp2322Tyr) c.897G>T (n.897G>T) c.561G>T (n.561G>T) c.6979G>T (p.Asp2327Tyr) c.244G>T (p.Asp82Tyr) n.500G>T c.7159G>T (p.Asp2387Tyr) c.7093G>T (p.Asp2365Tyr) c.7156G>T (p.Asp2386Tyr) c.7153G>T (p.Asp2385Tyr) c.7099G>T (p.Asp2367Tyr) c.7069G>T (p.Asp2357Tyr) c.7024G>T (p.Asp2342Tyr) c.6619G>T (p.Asp2207Tyr) c.5977G>T (p.Asp1993Tyr) c.3487G>T (p.Asp1163Tyr) | gnomAD v4 |
10 | g.71798489A= | CA1918878469 | CDH23 | c.6965A= (p.Asp2322=) c.898A= (n.898A=) c.562A= (n.562A=) c.6980A= (p.Asp2327=) c.245A= (p.Asp82=) n.501A= c.7160A= (p.Asp2387=) c.7094A= (p.Asp2365=) c.7157A= (p.Asp2386=) c.7154A= (p.Asp2385=) c.7100A= (p.Asp2367=) c.7070A= (p.Asp2357=) c.7025A= (p.Asp2342=) c.6620A= (p.Asp2207=) c.5978A= (p.Asp1993=) c.3488A= (p.Asp1163=) | |
10 | g.71798489A>C | CA377158079 | CDH23 | c.6965A>C (p.Asp2322Ala) c.898A>C (n.898A>C) c.562A>C (n.562A>C) c.6980A>C (p.Asp2327Ala) c.245A>C (p.Asp82Ala) n.501A>C c.7160A>C (p.Asp2387Ala) c.7094A>C (p.Asp2365Ala) c.7157A>C (p.Asp2386Ala) c.7154A>C (p.Asp2385Ala) c.7100A>C (p.Asp2367Ala) c.7070A>C (p.Asp2357Ala) c.7025A>C (p.Asp2342Ala) c.6620A>C (p.Asp2207Ala) c.5978A>C (p.Asp1993Ala) c.3488A>C (p.Asp1163Ala) | |
10 | g.71798489A>G | CA377158074 | CDH23 | c.6965A>G (p.Asp2322Gly) c.898A>G (n.898A>G) c.562A>G (n.562A>G) c.6980A>G (p.Asp2327Gly) c.245A>G (p.Asp82Gly) n.501A>G c.7160A>G (p.Asp2387Gly) c.7094A>G (p.Asp2365Gly) c.7157A>G (p.Asp2386Gly) c.7154A>G (p.Asp2385Gly) c.7100A>G (p.Asp2367Gly) c.7070A>G (p.Asp2357Gly) c.7025A>G (p.Asp2342Gly) c.6620A>G (p.Asp2207Gly) c.5978A>G (p.Asp1993Gly) c.3488A>G (p.Asp1163Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798489A>T | CA377158076 | CDH23 | c.6965A>T (p.Asp2322Val) c.898A>T (n.898A>T) c.562A>T (n.562A>T) c.6980A>T (p.Asp2327Val) c.245A>T (p.Asp82Val) n.501A>T c.7160A>T (p.Asp2387Val) c.7094A>T (p.Asp2365Val) c.7157A>T (p.Asp2386Val) c.7154A>T (p.Asp2385Val) c.7100A>T (p.Asp2367Val) c.7070A>T (p.Asp2357Val) c.7025A>T (p.Asp2342Val) c.6620A>T (p.Asp2207Val) c.5978A>T (p.Asp1993Val) c.3488A>T (p.Asp1163Val) | ClinVar |
10 | g.71798489_71798490delinsAC | CA1918878468 | CDH23 | c.6965_6966delinsAC (p.Asp2322=) c.898_899delinsAC (n.898_899delinsAC) c.562_563delinsAC (n.562_563delinsAC) c.6980_6981delinsAC (p.Asp2327=) c.245_246delinsAC (p.Asp82=) n.501_502delinsAC c.7160_7161delinsAC (p.Asp2387=) c.7094_7095delinsAC (p.Asp2365=) c.7157_7158delinsAC (p.Asp2386=) c.7154_7155delinsAC (p.Asp2385=) c.7100_7101delinsAC (p.Asp2367=) c.7070_7071delinsAC (p.Asp2357=) c.7025_7026delinsAC (p.Asp2342=) c.6620_6621delinsAC (p.Asp2207=) c.5978_5979delinsAC (p.Asp1993=) c.3488_3489delinsAC (p.Asp1163=) | |
10 | g.71798490C>A | CA377158081 | CDH23 | c.6966C>A (p.Asp2322Glu) c.899C>A (n.899C>A) c.563C>A (n.563C>A) c.6981C>A (p.Asp2327Glu) c.246C>A (p.Asp82Glu) n.502C>A c.7161C>A (p.Asp2387Glu) c.7095C>A (p.Asp2365Glu) c.7158C>A (p.Asp2386Glu) c.7155C>A (p.Asp2385Glu) c.7101C>A (p.Asp2367Glu) c.7071C>A (p.Asp2357Glu) c.7026C>A (p.Asp2342Glu) c.6621C>A (p.Asp2207Glu) c.5979C>A (p.Asp1993Glu) c.3489C>A (p.Asp1163Glu) | ClinVar dbSNP |
10 | g.71798490C= | CA1918878470 | CDH23 | c.6966C= (p.Asp2322=) c.899C= (n.899C=) c.563C= (n.563C=) c.6981C= (p.Asp2327=) c.246C= (p.Asp82=) n.502C= c.7161C= (p.Asp2387=) c.7095C= (p.Asp2365=) c.7158C= (p.Asp2386=) c.7155C= (p.Asp2385=) c.7101C= (p.Asp2367=) c.7071C= (p.Asp2357=) c.7026C= (p.Asp2342=) c.6621C= (p.Asp2207=) c.5979C= (p.Asp1993=) c.3489C= (p.Asp1163=) | |
10 | g.71798490C>G | CA377158082 | CDH23 | c.6966C>G (p.Asp2322Glu) c.899C>G (n.899C>G) c.563C>G (n.563C>G) c.6981C>G (p.Asp2327Glu) c.246C>G (p.Asp82Glu) n.502C>G c.7161C>G (p.Asp2387Glu) c.7095C>G (p.Asp2365Glu) c.7158C>G (p.Asp2386Glu) c.7155C>G (p.Asp2385Glu) c.7101C>G (p.Asp2367Glu) c.7071C>G (p.Asp2357Glu) c.7026C>G (p.Asp2342Glu) c.6621C>G (p.Asp2207Glu) c.5979C>G (p.Asp1993Glu) c.3489C>G (p.Asp1163Glu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798490C>T | CA470062073 | CDH23 | c.6966C>T (p.Asp2322=) c.899C>T (n.899C>T) c.563C>T (n.563C>T) c.6981C>T (p.Asp2327=) c.246C>T (p.Asp82=) n.502C>T c.7161C>T (p.Asp2387=) c.7095C>T (p.Asp2365=) c.7158C>T (p.Asp2386=) c.7155C>T (p.Asp2385=) c.7101C>T (p.Asp2367=) c.7071C>T (p.Asp2357=) c.7026C>T (p.Asp2342=) c.6621C>T (p.Asp2207=) c.5979C>T (p.Asp1993=) c.3489C>T (p.Asp1163=) | |
10 | g.71798492del | CA261796 | CDH23 | c.6968del (p.Pro2323LeufsTer?) c.901del (n.901del) c.565del (n.565del) c.6983del (p.Pro2328LeufsTer?) c.248del (p.Pro83LeufsTer?) n.504del c.7163del (p.Pro2388LeufsTer?) c.7097del (p.Pro2366LeufsTer?) c.7160del (p.Pro2387LeufsTer?) c.7157del (p.Pro2386LeufsTer?) c.7103del (p.Pro2368LeufsTer?) c.7073del (p.Pro2358LeufsTer?) c.7028del (p.Pro2343LeufsTer?) c.6623del (p.Pro2208LeufsTer?) c.5981del (p.Pro1994LeufsTer?) c.3491del (p.Pro1164LeufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798491C>A | CA377158085 | CDH23 | c.6967C>A (p.Pro2323Thr) c.900C>A (n.900C>A) c.564C>A (n.564C>A) c.6982C>A (p.Pro2328Thr) c.247C>A (p.Pro83Thr) n.503C>A c.7162C>A (p.Pro2388Thr) c.7096C>A (p.Pro2366Thr) c.7159C>A (p.Pro2387Thr) c.7156C>A (p.Pro2386Thr) c.7102C>A (p.Pro2368Thr) c.7072C>A (p.Pro2358Thr) c.7027C>A (p.Pro2343Thr) c.6622C>A (p.Pro2208Thr) c.5980C>A (p.Pro1994Thr) c.3490C>A (p.Pro1164Thr) | gnomAD v4 |
10 | g.71798491C>G | CA377158087 | CDH23 | c.6967C>G (p.Pro2323Ala) c.900C>G (n.900C>G) c.564C>G (n.564C>G) c.6982C>G (p.Pro2328Ala) c.247C>G (p.Pro83Ala) n.503C>G c.7162C>G (p.Pro2388Ala) c.7096C>G (p.Pro2366Ala) c.7159C>G (p.Pro2387Ala) c.7156C>G (p.Pro2386Ala) c.7102C>G (p.Pro2368Ala) c.7072C>G (p.Pro2358Ala) c.7027C>G (p.Pro2343Ala) c.6622C>G (p.Pro2208Ala) c.5980C>G (p.Pro1994Ala) c.3490C>G (p.Pro1164Ala) | |
10 | g.71798491C>T | CA377158088 | CDH23 | c.6967C>T (p.Pro2323Ser) c.900C>T (n.900C>T) c.564C>T (n.564C>T) c.6982C>T (p.Pro2328Ser) c.247C>T (p.Pro83Ser) n.503C>T c.7162C>T (p.Pro2388Ser) c.7096C>T (p.Pro2366Ser) c.7159C>T (p.Pro2387Ser) c.7156C>T (p.Pro2386Ser) c.7102C>T (p.Pro2368Ser) c.7072C>T (p.Pro2358Ser) c.7027C>T (p.Pro2343Ser) c.6622C>T (p.Pro2208Ser) c.5980C>T (p.Pro1994Ser) c.3490C>T (p.Pro1164Ser) | gnomAD v4 |
10 | g.71798492C>A | CA377158089 | CDH23 | c.6968C>A (p.Pro2323His) c.901C>A (n.901C>A) c.565C>A (n.565C>A) c.6983C>A (p.Pro2328His) c.248C>A (p.Pro83His) n.504C>A c.7163C>A (p.Pro2388His) c.7097C>A (p.Pro2366His) c.7160C>A (p.Pro2387His) c.7157C>A (p.Pro2386His) c.7103C>A (p.Pro2368His) c.7073C>A (p.Pro2358His) c.7028C>A (p.Pro2343His) c.6623C>A (p.Pro2208His) c.5981C>A (p.Pro1994His) c.3491C>A (p.Pro1164His) | |
10 | g.71798492C>G | CA377158090 | CDH23 | c.6968C>G (p.Pro2323Arg) c.901C>G (n.901C>G) c.565C>G (n.565C>G) c.6983C>G (p.Pro2328Arg) c.248C>G (p.Pro83Arg) n.504C>G c.7163C>G (p.Pro2388Arg) c.7097C>G (p.Pro2366Arg) c.7160C>G (p.Pro2387Arg) c.7157C>G (p.Pro2386Arg) c.7103C>G (p.Pro2368Arg) c.7073C>G (p.Pro2358Arg) c.7028C>G (p.Pro2343Arg) c.6623C>G (p.Pro2208Arg) c.5981C>G (p.Pro1994Arg) c.3491C>G (p.Pro1164Arg) | |
10 | g.71798492C>T | CA377158091 | CDH23 | c.6968C>T (p.Pro2323Leu) c.901C>T (n.901C>T) c.565C>T (n.565C>T) c.6983C>T (p.Pro2328Leu) c.248C>T (p.Pro83Leu) n.504C>T c.7163C>T (p.Pro2388Leu) c.7097C>T (p.Pro2366Leu) c.7160C>T (p.Pro2387Leu) c.7157C>T (p.Pro2386Leu) c.7103C>T (p.Pro2368Leu) c.7073C>T (p.Pro2358Leu) c.7028C>T (p.Pro2343Leu) c.6623C>T (p.Pro2208Leu) c.5981C>T (p.Pro1994Leu) c.3491C>T (p.Pro1164Leu) | |
10 | g.71798493T>A | CA470062075 | CDH23 | c.6969T>A (p.Pro2323=) c.902T>A (n.902T>A) c.566T>A (n.566T>A) c.6984T>A (p.Pro2328=) c.249T>A (p.Pro83=) n.505T>A c.7164T>A (p.Pro2388=) c.7098T>A (p.Pro2366=) c.7161T>A (p.Pro2387=) c.7158T>A (p.Pro2386=) c.7104T>A (p.Pro2368=) c.7074T>A (p.Pro2358=) c.7029T>A (p.Pro2343=) c.6624T>A (p.Pro2208=) c.5982T>A (p.Pro1994=) c.3492T>A (p.Pro1164=) | |
10 | g.71798493T>C | CA470062076 | CDH23 | c.6969T>C (p.Pro2323=) c.902T>C (n.902T>C) c.566T>C (n.566T>C) c.6984T>C (p.Pro2328=) c.249T>C (p.Pro83=) n.505T>C c.7164T>C (p.Pro2388=) c.7098T>C (p.Pro2366=) c.7161T>C (p.Pro2387=) c.7158T>C (p.Pro2386=) c.7104T>C (p.Pro2368=) c.7074T>C (p.Pro2358=) c.7029T>C (p.Pro2343=) c.6624T>C (p.Pro2208=) c.5982T>C (p.Pro1994=) c.3492T>C (p.Pro1164=) | dbSNP |
10 | g.71798493T>G | CA470062077 | CDH23 | c.6969T>G (p.Pro2323=) c.902T>G (n.902T>G) c.566T>G (n.566T>G) c.6984T>G (p.Pro2328=) c.249T>G (p.Pro83=) n.505T>G c.7164T>G (p.Pro2388=) c.7098T>G (p.Pro2366=) c.7161T>G (p.Pro2387=) c.7158T>G (p.Pro2386=) c.7104T>G (p.Pro2368=) c.7074T>G (p.Pro2358=) c.7029T>G (p.Pro2343=) c.6624T>G (p.Pro2208=) c.5982T>G (p.Pro1994=) c.3492T>G (p.Pro1164=) | |
10 | g.71798493T= | CA1918878471 | CDH23 | c.6969T= (p.Pro2323=) c.902T= (n.902T=) c.566T= (n.566T=) c.6984T= (p.Pro2328=) c.249T= (p.Pro83=) n.505T= c.7164T= (p.Pro2388=) c.7098T= (p.Pro2366=) c.7161T= (p.Pro2387=) c.7158T= (p.Pro2386=) c.7104T= (p.Pro2368=) c.7074T= (p.Pro2358=) c.7029T= (p.Pro2343=) c.6624T= (p.Pro2208=) c.5982T= (p.Pro1994=) c.3492T= (p.Pro1164=) | |
10 | g.71798494G>A | CA377158092 | CDH23 | c.6970G>A (p.Asp2324Asn) c.903G>A (n.903G>A) c.567G>A (n.567G>A) c.6985G>A (p.Asp2329Asn) c.250G>A (p.Asp84Asn) n.506G>A c.7165G>A (p.Asp2389Asn) c.7099G>A (p.Asp2367Asn) c.7162G>A (p.Asp2388Asn) c.7159G>A (p.Asp2387Asn) c.7105G>A (p.Asp2369Asn) c.7075G>A (p.Asp2359Asn) c.7030G>A (p.Asp2344Asn) c.6625G>A (p.Asp2209Asn) c.5983G>A (p.Asp1995Asn) c.3493G>A (p.Asp1165Asn) | |
10 | g.71798494G>C | CA377158093 | CDH23 | c.6970G>C (p.Asp2324His) c.903G>C (n.903G>C) c.567G>C (n.567G>C) c.6985G>C (p.Asp2329His) c.250G>C (p.Asp84His) n.506G>C c.7165G>C (p.Asp2389His) c.7099G>C (p.Asp2367His) c.7162G>C (p.Asp2388His) c.7159G>C (p.Asp2387His) c.7105G>C (p.Asp2369His) c.7075G>C (p.Asp2359His) c.7030G>C (p.Asp2344His) c.6625G>C (p.Asp2209His) c.5983G>C (p.Asp1995His) c.3493G>C (p.Asp1165His) | |
10 | g.71798494G>T | CA377158094 | CDH23 | c.6970G>T (p.Asp2324Tyr) c.903G>T (n.903G>T) c.567G>T (n.567G>T) c.6985G>T (p.Asp2329Tyr) c.250G>T (p.Asp84Tyr) n.506G>T c.7165G>T (p.Asp2389Tyr) c.7099G>T (p.Asp2367Tyr) c.7162G>T (p.Asp2388Tyr) c.7159G>T (p.Asp2387Tyr) c.7105G>T (p.Asp2369Tyr) c.7075G>T (p.Asp2359Tyr) c.7030G>T (p.Asp2344Tyr) c.6625G>T (p.Asp2209Tyr) c.5983G>T (p.Asp1995Tyr) c.3493G>T (p.Asp1165Tyr) | |
10 | g.71798495A>C | CA377158099 | CDH23 | c.6971A>C (p.Asp2324Ala) c.904A>C (n.904A>C) c.568A>C (n.568A>C) c.6986A>C (p.Asp2329Ala) c.251A>C (p.Asp84Ala) n.507A>C c.7166A>C (p.Asp2389Ala) c.7100A>C (p.Asp2367Ala) c.7163A>C (p.Asp2388Ala) c.7160A>C (p.Asp2387Ala) c.7106A>C (p.Asp2369Ala) c.7076A>C (p.Asp2359Ala) c.7031A>C (p.Asp2344Ala) c.6626A>C (p.Asp2209Ala) c.5984A>C (p.Asp1995Ala) c.3494A>C (p.Asp1165Ala) | |
10 | g.71798495A>G | CA377158098 | CDH23 | c.6971A>G (p.Asp2324Gly) c.904A>G (n.904A>G) c.568A>G (n.568A>G) c.6986A>G (p.Asp2329Gly) c.251A>G (p.Asp84Gly) n.507A>G c.7166A>G (p.Asp2389Gly) c.7100A>G (p.Asp2367Gly) c.7163A>G (p.Asp2388Gly) c.7160A>G (p.Asp2387Gly) c.7106A>G (p.Asp2369Gly) c.7076A>G (p.Asp2359Gly) c.7031A>G (p.Asp2344Gly) c.6626A>G (p.Asp2209Gly) c.5984A>G (p.Asp1995Gly) c.3494A>G (p.Asp1165Gly) | gnomAD v4 |
10 | g.71798495A>T | CA377158096 | CDH23 | c.6971A>T (p.Asp2324Val) c.904A>T (n.904A>T) c.568A>T (n.568A>T) c.6986A>T (p.Asp2329Val) c.251A>T (p.Asp84Val) n.507A>T c.7166A>T (p.Asp2389Val) c.7100A>T (p.Asp2367Val) c.7163A>T (p.Asp2388Val) c.7160A>T (p.Asp2387Val) c.7106A>T (p.Asp2369Val) c.7076A>T (p.Asp2359Val) c.7031A>T (p.Asp2344Val) c.6626A>T (p.Asp2209Val) c.5984A>T (p.Asp1995Val) c.3494A>T (p.Asp1165Val) | dbSNP |
10 | g.71798496C>A | CA377158100 | CDH23 | c.6972C>A (p.Asp2324Glu) c.905C>A (n.905C>A) c.569C>A (n.569C>A) c.6987C>A (p.Asp2329Glu) c.252C>A (p.Asp84Glu) n.508C>A c.7167C>A (p.Asp2389Glu) c.7101C>A (p.Asp2367Glu) c.7164C>A (p.Asp2388Glu) c.7161C>A (p.Asp2387Glu) c.7107C>A (p.Asp2369Glu) c.7077C>A (p.Asp2359Glu) c.7032C>A (p.Asp2344Glu) c.6627C>A (p.Asp2209Glu) c.5985C>A (p.Asp1995Glu) c.3495C>A (p.Asp1165Glu) | |
10 | g.71798496C>G | CA377158102 | CDH23 | c.6972C>G (p.Asp2324Glu) c.905C>G (n.905C>G) c.569C>G (n.569C>G) c.6987C>G (p.Asp2329Glu) c.252C>G (p.Asp84Glu) n.508C>G c.7167C>G (p.Asp2389Glu) c.7101C>G (p.Asp2367Glu) c.7164C>G (p.Asp2388Glu) c.7161C>G (p.Asp2387Glu) c.7107C>G (p.Asp2369Glu) c.7077C>G (p.Asp2359Glu) c.7032C>G (p.Asp2344Glu) c.6627C>G (p.Asp2209Glu) c.5985C>G (p.Asp1995Glu) c.3495C>G (p.Asp1165Glu) | |
10 | g.71798496C>T | CA470062080 | CDH23 | c.6972C>T (p.Asp2324=) c.905C>T (n.905C>T) c.569C>T (n.569C>T) c.6987C>T (p.Asp2329=) c.252C>T (p.Asp84=) n.508C>T c.7167C>T (p.Asp2389=) c.7101C>T (p.Asp2367=) c.7164C>T (p.Asp2388=) c.7161C>T (p.Asp2387=) c.7107C>T (p.Asp2369=) c.7077C>T (p.Asp2359=) c.7032C>T (p.Asp2344=) c.6627C>T (p.Asp2209=) c.5985C>T (p.Asp1995=) c.3495C>T (p.Asp1165=) | gnomAD v4 |
10 | g.71798497A>C | CA377158103 | CDH23 | c.6973A>C (p.Lys2325Gln) c.906A>C (n.906A>C) c.570A>C (n.570A>C) c.6988A>C (p.Lys2330Gln) c.253A>C (p.Lys85Gln) n.509A>C c.7168A>C (p.Lys2390Gln) c.7102A>C (p.Lys2368Gln) c.7165A>C (p.Lys2389Gln) c.7162A>C (p.Lys2388Gln) c.7108A>C (p.Lys2370Gln) c.7078A>C (p.Lys2360Gln) c.7033A>C (p.Lys2345Gln) c.6628A>C (p.Lys2210Gln) c.5986A>C (p.Lys1996Gln) c.3496A>C (p.Lys1166Gln) | |
10 | g.71798497A>G | CA377158105 | CDH23 | c.6973A>G (p.Lys2325Glu) c.906A>G (n.906A>G) c.570A>G (n.570A>G) c.6988A>G (p.Lys2330Glu) c.253A>G (p.Lys85Glu) n.509A>G c.7168A>G (p.Lys2390Glu) c.7102A>G (p.Lys2368Glu) c.7165A>G (p.Lys2389Glu) c.7162A>G (p.Lys2388Glu) c.7108A>G (p.Lys2370Glu) c.7078A>G (p.Lys2360Glu) c.7033A>G (p.Lys2345Glu) c.6628A>G (p.Lys2210Glu) c.5986A>G (p.Lys1996Glu) c.3496A>G (p.Lys1166Glu) | |
10 | g.71798497A>T | CA377158107 | CDH23 | c.6973A>T (p.Lys2325Ter) c.906A>T (n.906A>T) c.570A>T (n.570A>T) c.6988A>T (p.Lys2330Ter) c.253A>T (p.Lys85Ter) n.509A>T c.7168A>T (p.Lys2390Ter) c.7102A>T (p.Lys2368Ter) c.7165A>T (p.Lys2389Ter) c.7162A>T (p.Lys2388Ter) c.7108A>T (p.Lys2370Ter) c.7078A>T (p.Lys2360Ter) c.7033A>T (p.Lys2345Ter) c.6628A>T (p.Lys2210Ter) c.5986A>T (p.Lys1996Ter) c.3496A>T (p.Lys1166Ter) | |
10 | g.71798498dup | CA2580081848 | CDH23 | c.6974dup (p.Leu2327ProfsTer2) c.907dup (n.907dup) c.571dup (n.571dup) c.6989dup (p.Leu2332ProfsTer2) c.254dup (p.Leu87ProfsTer2) n.510dup c.7169dup (p.Leu2392ProfsTer2) c.7103dup (p.Leu2370ProfsTer2) c.7166dup (p.Leu2391ProfsTer2) c.7163dup (p.Leu2390ProfsTer2) c.7109dup (p.Leu2372ProfsTer2) c.7079dup (p.Leu2362ProfsTer2) c.7034dup (p.Leu2347ProfsTer2) c.6629dup (p.Leu2212ProfsTer2) c.5987dup (p.Leu1998ProfsTer2) c.3497dup (p.Leu1168ProfsTer2) | ClinVar |
10 | g.71798498A>C | CA377158108 | CDH23 | c.6974A>C (p.Lys2325Thr) c.907A>C (n.907A>C) c.571A>C (n.571A>C) c.6989A>C (p.Lys2330Thr) c.254A>C (p.Lys85Thr) n.510A>C c.7169A>C (p.Lys2390Thr) c.7103A>C (p.Lys2368Thr) c.7166A>C (p.Lys2389Thr) c.7163A>C (p.Lys2388Thr) c.7109A>C (p.Lys2370Thr) c.7079A>C (p.Lys2360Thr) c.7034A>C (p.Lys2345Thr) c.6629A>C (p.Lys2210Thr) c.5987A>C (p.Lys1996Thr) c.3497A>C (p.Lys1166Thr) | |
10 | g.71798498A>G | CA377158109 | CDH23 | c.6974A>G (p.Lys2325Arg) c.907A>G (n.907A>G) c.571A>G (n.571A>G) c.6989A>G (p.Lys2330Arg) c.254A>G (p.Lys85Arg) n.510A>G c.7169A>G (p.Lys2390Arg) c.7103A>G (p.Lys2368Arg) c.7166A>G (p.Lys2389Arg) c.7163A>G (p.Lys2388Arg) c.7109A>G (p.Lys2370Arg) c.7079A>G (p.Lys2360Arg) c.7034A>G (p.Lys2345Arg) c.6629A>G (p.Lys2210Arg) c.5987A>G (p.Lys1996Arg) c.3497A>G (p.Lys1166Arg) | |
10 | g.71798498A>T | CA377158110 | CDH23 | c.6974A>T (p.Lys2325Met) c.907A>T (n.907A>T) c.571A>T (n.571A>T) c.6989A>T (p.Lys2330Met) c.254A>T (p.Lys85Met) n.510A>T c.7169A>T (p.Lys2390Met) c.7103A>T (p.Lys2368Met) c.7166A>T (p.Lys2389Met) c.7163A>T (p.Lys2388Met) c.7109A>T (p.Lys2370Met) c.7079A>T (p.Lys2360Met) c.7034A>T (p.Lys2345Met) c.6629A>T (p.Lys2210Met) c.5987A>T (p.Lys1996Met) c.3497A>T (p.Lys1166Met) | |
10 | g.71798499G>A | CA470062082 | CDH23 | c.6975G>A (p.Lys2325=) c.908G>A (n.908G>A) c.572G>A (n.572G>A) c.6990G>A (p.Lys2330=) c.255G>A (p.Lys85=) n.511G>A c.7170G>A (p.Lys2390=) c.7104G>A (p.Lys2368=) c.7167G>A (p.Lys2389=) c.7164G>A (p.Lys2388=) c.7110G>A (p.Lys2370=) c.7080G>A (p.Lys2360=) c.7035G>A (p.Lys2345=) c.6630G>A (p.Lys2210=) c.5988G>A (p.Lys1996=) c.3498G>A (p.Lys1166=) | ClinVar dbSNP |
10 | g.71798499G>C | CA377158111 | CDH23 | c.6975G>C (p.Lys2325Asn) c.908G>C (n.908G>C) c.572G>C (n.572G>C) c.6990G>C (p.Lys2330Asn) c.255G>C (p.Lys85Asn) n.511G>C c.7170G>C (p.Lys2390Asn) c.7104G>C (p.Lys2368Asn) c.7167G>C (p.Lys2389Asn) c.7164G>C (p.Lys2388Asn) c.7110G>C (p.Lys2370Asn) c.7080G>C (p.Lys2360Asn) c.7035G>C (p.Lys2345Asn) c.6630G>C (p.Lys2210Asn) c.5988G>C (p.Lys1996Asn) c.3498G>C (p.Lys1166Asn) | |
10 | g.71798499G>T | CA377158113 | CDH23 | c.6975G>T (p.Lys2325Asn) c.908G>T (n.908G>T) c.572G>T (n.572G>T) c.6990G>T (p.Lys2330Asn) c.255G>T (p.Lys85Asn) n.511G>T c.7170G>T (p.Lys2390Asn) c.7104G>T (p.Lys2368Asn) c.7167G>T (p.Lys2389Asn) c.7164G>T (p.Lys2388Asn) c.7110G>T (p.Lys2370Asn) c.7080G>T (p.Lys2360Asn) c.7035G>T (p.Lys2345Asn) c.6630G>T (p.Lys2210Asn) c.5988G>T (p.Lys1996Asn) c.3498G>T (p.Lys1166Asn) | |
10 | g.71798500G>A | CA377158115 | CDH23 | c.6976G>A (p.Gly2326Ser) c.909G>A (n.909G>A) c.573G>A (n.573G>A) c.6991G>A (p.Gly2331Ser) c.256G>A (p.Gly86Ser) n.512G>A c.7171G>A (p.Gly2391Ser) c.7105G>A (p.Gly2369Ser) c.7168G>A (p.Gly2390Ser) c.7165G>A (p.Gly2389Ser) c.7111G>A (p.Gly2371Ser) c.7081G>A (p.Gly2361Ser) c.7036G>A (p.Gly2346Ser) c.6631G>A (p.Gly2211Ser) c.5989G>A (p.Gly1997Ser) c.3499G>A (p.Gly1167Ser) | |
10 | g.71798500G>C | CA377158116 | CDH23 | c.6976G>C (p.Gly2326Arg) c.909G>C (n.909G>C) c.573G>C (n.573G>C) c.6991G>C (p.Gly2331Arg) c.256G>C (p.Gly86Arg) n.512G>C c.7171G>C (p.Gly2391Arg) c.7105G>C (p.Gly2369Arg) c.7168G>C (p.Gly2390Arg) c.7165G>C (p.Gly2389Arg) c.7111G>C (p.Gly2371Arg) c.7081G>C (p.Gly2361Arg) c.7036G>C (p.Gly2346Arg) c.6631G>C (p.Gly2211Arg) c.5989G>C (p.Gly1997Arg) c.3499G>C (p.Gly1167Arg) | |
10 | g.71798500G>T | CA377158118 | CDH23 | c.6976G>T (p.Gly2326Cys) c.909G>T (n.909G>T) c.573G>T (n.573G>T) c.6991G>T (p.Gly2331Cys) c.256G>T (p.Gly86Cys) n.512G>T c.7171G>T (p.Gly2391Cys) c.7105G>T (p.Gly2369Cys) c.7168G>T (p.Gly2390Cys) c.7165G>T (p.Gly2389Cys) c.7111G>T (p.Gly2371Cys) c.7081G>T (p.Gly2361Cys) c.7036G>T (p.Gly2346Cys) c.6631G>T (p.Gly2211Cys) c.5989G>T (p.Gly1997Cys) c.3499G>T (p.Gly1167Cys) | |
10 | g.71798501G>A | CA377158121 | CDH23 | c.6977G>A (p.Gly2326Asp) c.910G>A (n.910G>A) c.574G>A (n.574G>A) c.6992G>A (p.Gly2331Asp) c.257G>A (p.Gly86Asp) n.513G>A c.7172G>A (p.Gly2391Asp) c.7106G>A (p.Gly2369Asp) c.7169G>A (p.Gly2390Asp) c.7166G>A (p.Gly2389Asp) c.7112G>A (p.Gly2371Asp) c.7082G>A (p.Gly2361Asp) c.7037G>A (p.Gly2346Asp) c.6632G>A (p.Gly2211Asp) c.5990G>A (p.Gly1997Asp) c.3500G>A (p.Gly1167Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798501G>C | CA377158126 | CDH23 | c.6977G>C (p.Gly2326Ala) c.910G>C (n.910G>C) c.574G>C (n.574G>C) c.6992G>C (p.Gly2331Ala) c.257G>C (p.Gly86Ala) n.513G>C c.7172G>C (p.Gly2391Ala) c.7106G>C (p.Gly2369Ala) c.7169G>C (p.Gly2390Ala) c.7166G>C (p.Gly2389Ala) c.7112G>C (p.Gly2371Ala) c.7082G>C (p.Gly2361Ala) c.7037G>C (p.Gly2346Ala) c.6632G>C (p.Gly2211Ala) c.5990G>C (p.Gly1997Ala) c.3500G>C (p.Gly1167Ala) | |
10 | g.71798501G= | CA1918878472 | CDH23 | c.6977G= (p.Gly2326=) c.910G= (n.910G=) c.574G= (n.574G=) c.6992G= (p.Gly2331=) c.257G= (p.Gly86=) n.513G= c.7172G= (p.Gly2391=) c.7106G= (p.Gly2369=) c.7169G= (p.Gly2390=) c.7166G= (p.Gly2389=) c.7112G= (p.Gly2371=) c.7082G= (p.Gly2361=) c.7037G= (p.Gly2346=) c.6632G= (p.Gly2211=) c.5990G= (p.Gly1997=) c.3500G= (p.Gly1167=) | |
10 | g.71798501G>T | CA377158119 | CDH23 | c.6977G>T (p.Gly2326Val) c.910G>T (n.910G>T) c.574G>T (n.574G>T) c.6992G>T (p.Gly2331Val) c.257G>T (p.Gly86Val) n.513G>T c.7172G>T (p.Gly2391Val) c.7106G>T (p.Gly2369Val) c.7169G>T (p.Gly2390Val) c.7166G>T (p.Gly2389Val) c.7112G>T (p.Gly2371Val) c.7082G>T (p.Gly2361Val) c.7037G>T (p.Gly2346Val) c.6632G>T (p.Gly2211Val) c.5990G>T (p.Gly1997Val) c.3500G>T (p.Gly1167Val) | |
10 | g.71798502C>A | CA470062083 | CDH23 | c.6978C>A (p.Gly2326=) c.911C>A (n.911C>A) c.575C>A (n.575C>A) c.6993C>A (p.Gly2331=) c.258C>A (p.Gly86=) n.514C>A c.7173C>A (p.Gly2391=) c.7107C>A (p.Gly2369=) c.7170C>A (p.Gly2390=) c.7167C>A (p.Gly2389=) c.7113C>A (p.Gly2371=) c.7083C>A (p.Gly2361=) c.7038C>A (p.Gly2346=) c.6633C>A (p.Gly2211=) c.5991C>A (p.Gly1997=) c.3501C>A (p.Gly1167=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798502C= | CA1918878473 | CDH23 | c.6978C= (p.Gly2326=) c.911C= (n.911C=) c.575C= (n.575C=) c.6993C= (p.Gly2331=) c.258C= (p.Gly86=) n.514C= c.7173C= (p.Gly2391=) c.7107C= (p.Gly2369=) c.7170C= (p.Gly2390=) c.7167C= (p.Gly2389=) c.7113C= (p.Gly2371=) c.7083C= (p.Gly2361=) c.7038C= (p.Gly2346=) c.6633C= (p.Gly2211=) c.5991C= (p.Gly1997=) c.3501C= (p.Gly1167=) | |
10 | g.71798502C>G | CA470062084 | CDH23 | c.6978C>G (p.Gly2326=) c.911C>G (n.911C>G) c.575C>G (n.575C>G) c.6993C>G (p.Gly2331=) c.258C>G (p.Gly86=) n.514C>G c.7173C>G (p.Gly2391=) c.7107C>G (p.Gly2369=) c.7170C>G (p.Gly2390=) c.7167C>G (p.Gly2389=) c.7113C>G (p.Gly2371=) c.7083C>G (p.Gly2361=) c.7038C>G (p.Gly2346=) c.6633C>G (p.Gly2211=) c.5991C>G (p.Gly1997=) c.3501C>G (p.Gly1167=) | |
10 | g.71798502C>T | CA470062085 | CDH23 | c.6978C>T (p.Gly2326=) c.911C>T (n.911C>T) c.575C>T (n.575C>T) c.6993C>T (p.Gly2331=) c.258C>T (p.Gly86=) n.514C>T c.7173C>T (p.Gly2391=) c.7107C>T (p.Gly2369=) c.7170C>T (p.Gly2390=) c.7167C>T (p.Gly2389=) c.7113C>T (p.Gly2371=) c.7083C>T (p.Gly2361=) c.7038C>T (p.Gly2346=) c.6633C>T (p.Gly2211=) c.5991C>T (p.Gly1997=) c.3501C>T (p.Gly1167=) | ClinVar dbSNP gnomAD v4 |
10 | g.71798503C>A | CA377158129 | CDH23 | c.6979C>A (p.Leu2327Ile) c.912C>A (n.912C>A) c.576C>A (n.576C>A) c.6994C>A (p.Leu2332Ile) c.259C>A (p.Leu87Ile) n.515C>A c.7174C>A (p.Leu2392Ile) c.7108C>A (p.Leu2370Ile) c.7171C>A (p.Leu2391Ile) c.7168C>A (p.Leu2390Ile) c.7114C>A (p.Leu2372Ile) c.7084C>A (p.Leu2362Ile) c.7039C>A (p.Leu2347Ile) c.6634C>A (p.Leu2212Ile) c.5992C>A (p.Leu1998Ile) c.3502C>A (p.Leu1168Ile) | |
10 | g.71798503C= | CA1918878474 | CDH23 | c.6979C= (p.Leu2327=) c.912C= (n.912C=) c.576C= (n.576C=) c.6994C= (p.Leu2332=) c.259C= (p.Leu87=) n.515C= c.7174C= (p.Leu2392=) c.7108C= (p.Leu2370=) c.7171C= (p.Leu2391=) c.7168C= (p.Leu2390=) c.7114C= (p.Leu2372=) c.7084C= (p.Leu2362=) c.7039C= (p.Leu2347=) c.6634C= (p.Leu2212=) c.5992C= (p.Leu1998=) c.3502C= (p.Leu1168=) | |
10 | g.71798503C>G | CA377158131 | CDH23 | c.6979C>G (p.Leu2327Val) c.912C>G (n.912C>G) c.576C>G (n.576C>G) c.6994C>G (p.Leu2332Val) c.259C>G (p.Leu87Val) n.515C>G c.7174C>G (p.Leu2392Val) c.7108C>G (p.Leu2370Val) c.7171C>G (p.Leu2391Val) c.7168C>G (p.Leu2390Val) c.7114C>G (p.Leu2372Val) c.7084C>G (p.Leu2362Val) c.7039C>G (p.Leu2347Val) c.6634C>G (p.Leu2212Val) c.5992C>G (p.Leu1998Val) c.3502C>G (p.Leu1168Val) | |
10 | g.71798503C>T | CA377158133 | CDH23 | c.6979C>T (p.Leu2327Phe) c.912C>T (n.912C>T) c.576C>T (n.576C>T) c.6994C>T (p.Leu2332Phe) c.259C>T (p.Leu87Phe) n.515C>T c.7174C>T (p.Leu2392Phe) c.7108C>T (p.Leu2370Phe) c.7171C>T (p.Leu2391Phe) c.7168C>T (p.Leu2390Phe) c.7114C>T (p.Leu2372Phe) c.7084C>T (p.Leu2362Phe) c.7039C>T (p.Leu2347Phe) c.6634C>T (p.Leu2212Phe) c.5992C>T (p.Leu1998Phe) c.3502C>T (p.Leu1168Phe) | dbSNP |
10 | g.71798504T>A | CA209469637 | CDH23 | c.6980T>A (p.Leu2327His) c.913T>A (n.913T>A) c.577T>A (n.577T>A) c.6995T>A (p.Leu2332His) c.260T>A (p.Leu87His) n.516T>A c.7175T>A (p.Leu2392His) c.7109T>A (p.Leu2370His) c.7172T>A (p.Leu2391His) c.7169T>A (p.Leu2390His) c.7115T>A (p.Leu2372His) c.7085T>A (p.Leu2362His) c.7040T>A (p.Leu2347His) c.6635T>A (p.Leu2212His) c.5993T>A (p.Leu1998His) c.3503T>A (p.Leu1168His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798504T>C | CA377158134 | CDH23 | c.6980T>C (p.Leu2327Pro) c.913T>C (n.913T>C) c.577T>C (n.577T>C) c.6995T>C (p.Leu2332Pro) c.260T>C (p.Leu87Pro) n.516T>C c.7175T>C (p.Leu2392Pro) c.7109T>C (p.Leu2370Pro) c.7172T>C (p.Leu2391Pro) c.7169T>C (p.Leu2390Pro) c.7115T>C (p.Leu2372Pro) c.7085T>C (p.Leu2362Pro) c.7040T>C (p.Leu2347Pro) c.6635T>C (p.Leu2212Pro) c.5993T>C (p.Leu1998Pro) c.3503T>C (p.Leu1168Pro) | |
10 | g.71798504T>G | CA377158136 | CDH23 | c.6980T>G (p.Leu2327Arg) c.913T>G (n.913T>G) c.577T>G (n.577T>G) c.6995T>G (p.Leu2332Arg) c.260T>G (p.Leu87Arg) n.516T>G c.7175T>G (p.Leu2392Arg) c.7109T>G (p.Leu2370Arg) c.7172T>G (p.Leu2391Arg) c.7169T>G (p.Leu2390Arg) c.7115T>G (p.Leu2372Arg) c.7085T>G (p.Leu2362Arg) c.7040T>G (p.Leu2347Arg) c.6635T>G (p.Leu2212Arg) c.5993T>G (p.Leu1998Arg) c.3503T>G (p.Leu1168Arg) | gnomAD v4 |
10 | g.71798504T= | CA1918878475 | CDH23 | c.6980T= (p.Leu2327=) c.913T= (n.913T=) c.577T= (n.577T=) c.6995T= (p.Leu2332=) c.260T= (p.Leu87=) n.516T= c.7175T= (p.Leu2392=) c.7109T= (p.Leu2370=) c.7172T= (p.Leu2391=) c.7169T= (p.Leu2390=) c.7115T= (p.Leu2372=) c.7085T= (p.Leu2362=) c.7040T= (p.Leu2347=) c.6635T= (p.Leu2212=) c.5993T= (p.Leu1998=) c.3503T= (p.Leu1168=) | |
10 | g.71798505T>A | CA470062088 | CDH23 | c.6981T>A (p.Leu2327=) c.914T>A (n.914T>A) c.578T>A (n.578T>A) c.6996T>A (p.Leu2332=) c.261T>A (p.Leu87=) n.517T>A c.7176T>A (p.Leu2392=) c.7110T>A (p.Leu2370=) c.7173T>A (p.Leu2391=) c.7170T>A (p.Leu2390=) c.7116T>A (p.Leu2372=) c.7086T>A (p.Leu2362=) c.7041T>A (p.Leu2347=) c.6636T>A (p.Leu2212=) c.5994T>A (p.Leu1998=) c.3504T>A (p.Leu1168=) | |
10 | g.71798505T>C | CA470062087 | CDH23 | c.6981T>C (p.Leu2327=) c.914T>C (n.914T>C) c.578T>C (n.578T>C) c.6996T>C (p.Leu2332=) c.261T>C (p.Leu87=) n.517T>C c.7176T>C (p.Leu2392=) c.7110T>C (p.Leu2370=) c.7173T>C (p.Leu2391=) c.7170T>C (p.Leu2390=) c.7116T>C (p.Leu2372=) c.7086T>C (p.Leu2362=) c.7041T>C (p.Leu2347=) c.6636T>C (p.Leu2212=) c.5994T>C (p.Leu1998=) c.3504T>C (p.Leu1168=) | |
10 | g.71798505T>G | CA470062086 | CDH23 | c.6981T>G (p.Leu2327=) c.914T>G (n.914T>G) c.578T>G (n.578T>G) c.6996T>G (p.Leu2332=) c.261T>G (p.Leu87=) n.517T>G c.7176T>G (p.Leu2392=) c.7110T>G (p.Leu2370=) c.7173T>G (p.Leu2391=) c.7170T>G (p.Leu2390=) c.7116T>G (p.Leu2372=) c.7086T>G (p.Leu2362=) c.7041T>G (p.Leu2347=) c.6636T>G (p.Leu2212=) c.5994T>G (p.Leu1998=) c.3504T>G (p.Leu1168=) | |
10 | g.71798506A= | CA1918878476 | CDH23 | c.6982A= (p.Asn2328=) c.915A= (n.915A=) c.579A= (n.579A=) c.6997A= (p.Asn2333=) c.262A= (p.Asn88=) n.518A= c.7177A= (p.Asn2393=) c.7111A= (p.Asn2371=) c.7174A= (p.Asn2392=) c.7171A= (p.Asn2391=) c.7117A= (p.Asn2373=) c.7087A= (p.Asn2363=) c.7042A= (p.Asn2348=) c.6637A= (p.Asn2213=) c.5995A= (p.Asn1999=) c.3505A= (p.Asn1169=) | |
10 | g.71798506A>C | CA377158156 | CDH23 | c.6982A>C (p.Asn2328His) c.915A>C (n.915A>C) c.579A>C (n.579A>C) c.6997A>C (p.Asn2333His) c.262A>C (p.Asn88His) n.518A>C c.7177A>C (p.Asn2393His) c.7111A>C (p.Asn2371His) c.7174A>C (p.Asn2392His) c.7171A>C (p.Asn2391His) c.7117A>C (p.Asn2373His) c.7087A>C (p.Asn2363His) c.7042A>C (p.Asn2348His) c.6637A>C (p.Asn2213His) c.5995A>C (p.Asn1999His) c.3505A>C (p.Asn1169His) | |
10 | g.71798506A>G | CA377158142 | CDH23 | c.6982A>G (p.Asn2328Asp) c.915A>G (n.915A>G) c.579A>G (n.579A>G) c.6997A>G (p.Asn2333Asp) c.262A>G (p.Asn88Asp) n.518A>G c.7177A>G (p.Asn2393Asp) c.7111A>G (p.Asn2371Asp) c.7174A>G (p.Asn2392Asp) c.7171A>G (p.Asn2391Asp) c.7117A>G (p.Asn2373Asp) c.7087A>G (p.Asn2363Asp) c.7042A>G (p.Asn2348Asp) c.6637A>G (p.Asn2213Asp) c.5995A>G (p.Asn1999Asp) c.3505A>G (p.Asn1169Asp) | dbSNP gnomAD v4 |
10 | g.71798506A>T | CA377158155 | CDH23 | c.6982A>T (p.Asn2328Tyr) c.915A>T (n.915A>T) c.579A>T (n.579A>T) c.6997A>T (p.Asn2333Tyr) c.262A>T (p.Asn88Tyr) n.518A>T c.7177A>T (p.Asn2393Tyr) c.7111A>T (p.Asn2371Tyr) c.7174A>T (p.Asn2392Tyr) c.7171A>T (p.Asn2391Tyr) c.7117A>T (p.Asn2373Tyr) c.7087A>T (p.Asn2363Tyr) c.7042A>T (p.Asn2348Tyr) c.6637A>T (p.Asn2213Tyr) c.5995A>T (p.Asn1999Tyr) c.3505A>T (p.Asn1169Tyr) | |
10 | g.71798507A>C | CA377158158 | CDH23 | c.6983A>C (p.Asn2328Thr) c.916A>C (n.916A>C) c.580A>C (n.580A>C) c.6998A>C (p.Asn2333Thr) c.263A>C (p.Asn88Thr) n.519A>C c.7178A>C (p.Asn2393Thr) c.7112A>C (p.Asn2371Thr) c.7175A>C (p.Asn2392Thr) c.7172A>C (p.Asn2391Thr) c.7118A>C (p.Asn2373Thr) c.7088A>C (p.Asn2363Thr) c.7043A>C (p.Asn2348Thr) c.6638A>C (p.Asn2213Thr) c.5996A>C (p.Asn1999Thr) c.3506A>C (p.Asn1169Thr) | |
10 | g.71798507A>G | CA377158160 | CDH23 | c.6983A>G (p.Asn2328Ser) c.916A>G (n.916A>G) c.580A>G (n.580A>G) c.6998A>G (p.Asn2333Ser) c.263A>G (p.Asn88Ser) n.519A>G c.7178A>G (p.Asn2393Ser) c.7112A>G (p.Asn2371Ser) c.7175A>G (p.Asn2392Ser) c.7172A>G (p.Asn2391Ser) c.7118A>G (p.Asn2373Ser) c.7088A>G (p.Asn2363Ser) c.7043A>G (p.Asn2348Ser) c.6638A>G (p.Asn2213Ser) c.5996A>G (p.Asn1999Ser) c.3506A>G (p.Asn1169Ser) | |
10 | g.71798507A>T | CA377158167 | CDH23 | c.6983A>T (p.Asn2328Ile) c.916A>T (n.916A>T) c.580A>T (n.580A>T) c.6998A>T (p.Asn2333Ile) c.263A>T (p.Asn88Ile) n.519A>T c.7178A>T (p.Asn2393Ile) c.7112A>T (p.Asn2371Ile) c.7175A>T (p.Asn2392Ile) c.7172A>T (p.Asn2391Ile) c.7118A>T (p.Asn2373Ile) c.7088A>T (p.Asn2363Ile) c.7043A>T (p.Asn2348Ile) c.6638A>T (p.Asn2213Ile) c.5996A>T (p.Asn1999Ile) c.3506A>T (p.Asn1169Ile) | |
10 | g.71798508T>A | CA377158169 | CDH23 | c.6984T>A (p.Asn2328Lys) c.917T>A (n.917T>A) c.581T>A (n.581T>A) c.6999T>A (p.Asn2333Lys) c.264T>A (p.Asn88Lys) n.520T>A c.7179T>A (p.Asn2393Lys) c.7113T>A (p.Asn2371Lys) c.7176T>A (p.Asn2392Lys) c.7173T>A (p.Asn2391Lys) c.7119T>A (p.Asn2373Lys) c.7089T>A (p.Asn2363Lys) c.7044T>A (p.Asn2348Lys) c.6639T>A (p.Asn2213Lys) c.5997T>A (p.Asn1999Lys) c.3507T>A (p.Asn1169Lys) | |
10 | g.71798508T>C | CA470062089 | CDH23 | c.6984T>C (p.Asn2328=) c.917T>C (n.917T>C) c.581T>C (n.581T>C) c.6999T>C (p.Asn2333=) c.264T>C (p.Asn88=) n.520T>C c.7179T>C (p.Asn2393=) c.7113T>C (p.Asn2371=) c.7176T>C (p.Asn2392=) c.7173T>C (p.Asn2391=) c.7119T>C (p.Asn2373=) c.7089T>C (p.Asn2363=) c.7044T>C (p.Asn2348=) c.6639T>C (p.Asn2213=) c.5997T>C (p.Asn1999=) c.3507T>C (p.Asn1169=) | |
10 | g.71798508T>G | CA377158170 | CDH23 | c.6984T>G (p.Asn2328Lys) c.917T>G (n.917T>G) c.581T>G (n.581T>G) c.6999T>G (p.Asn2333Lys) c.264T>G (p.Asn88Lys) n.520T>G c.7179T>G (p.Asn2393Lys) c.7113T>G (p.Asn2371Lys) c.7176T>G (p.Asn2392Lys) c.7173T>G (p.Asn2391Lys) c.7119T>G (p.Asn2373Lys) c.7089T>G (p.Asn2363Lys) c.7044T>G (p.Asn2348Lys) c.6639T>G (p.Asn2213Lys) c.5997T>G (p.Asn1999Lys) c.3507T>G (p.Asn1169Lys) | |
10 | g.71798509G>A | CA377158178 | CDH23 | c.6985G>A (p.Gly2329Arg) c.918G>A (n.918G>A) c.582G>A (n.582G>A) c.7000G>A (p.Gly2334Arg) c.265G>A (p.Gly89Arg) n.521G>A c.7180G>A (p.Gly2394Arg) c.7114G>A (p.Gly2372Arg) c.7177G>A (p.Gly2393Arg) c.7174G>A (p.Gly2392Arg) c.7120G>A (p.Gly2374Arg) c.7090G>A (p.Gly2364Arg) c.7045G>A (p.Gly2349Arg) c.6640G>A (p.Gly2214Arg) c.5998G>A (p.Gly2000Arg) c.3508G>A (p.Gly1170Arg) | |
10 | g.71798509G>C | CA377158173 | CDH23 | c.6985G>C (p.Gly2329Arg) c.918G>C (n.918G>C) c.582G>C (n.582G>C) c.7000G>C (p.Gly2334Arg) c.265G>C (p.Gly89Arg) n.521G>C c.7180G>C (p.Gly2394Arg) c.7114G>C (p.Gly2372Arg) c.7177G>C (p.Gly2393Arg) c.7174G>C (p.Gly2392Arg) c.7120G>C (p.Gly2374Arg) c.7090G>C (p.Gly2364Arg) c.7045G>C (p.Gly2349Arg) c.6640G>C (p.Gly2214Arg) c.5998G>C (p.Gly2000Arg) c.3508G>C (p.Gly1170Arg) | |
10 | g.71798509G>T | CA377158175 | CDH23 | c.6985G>T (p.Gly2329Trp) c.918G>T (n.918G>T) c.582G>T (n.582G>T) c.7000G>T (p.Gly2334Trp) c.265G>T (p.Gly89Trp) n.521G>T c.7180G>T (p.Gly2394Trp) c.7114G>T (p.Gly2372Trp) c.7177G>T (p.Gly2393Trp) c.7174G>T (p.Gly2392Trp) c.7120G>T (p.Gly2374Trp) c.7090G>T (p.Gly2364Trp) c.7045G>T (p.Gly2349Trp) c.6640G>T (p.Gly2214Trp) c.5998G>T (p.Gly2000Trp) c.3508G>T (p.Gly1170Trp) | gnomAD v4 |
10 | g.71798510G>A | CA377158179 | CDH23 | c.6986G>A (p.Gly2329Glu) c.919G>A (n.919G>A) c.583G>A (n.583G>A) c.7001G>A (p.Gly2334Glu) c.266G>A (p.Gly89Glu) n.522G>A c.7181G>A (p.Gly2394Glu) c.7115G>A (p.Gly2372Glu) c.7178G>A (p.Gly2393Glu) c.7175G>A (p.Gly2392Glu) c.7121G>A (p.Gly2374Glu) c.7091G>A (p.Gly2364Glu) c.7046G>A (p.Gly2349Glu) c.6641G>A (p.Gly2214Glu) c.5999G>A (p.Gly2000Glu) c.3509G>A (p.Gly1170Glu) | ClinVar |
10 | g.71798510G>C | CA377158180 | CDH23 | c.6986G>C (p.Gly2329Ala) c.919G>C (n.919G>C) c.583G>C (n.583G>C) c.7001G>C (p.Gly2334Ala) c.266G>C (p.Gly89Ala) n.522G>C c.7181G>C (p.Gly2394Ala) c.7115G>C (p.Gly2372Ala) c.7178G>C (p.Gly2393Ala) c.7175G>C (p.Gly2392Ala) c.7121G>C (p.Gly2374Ala) c.7091G>C (p.Gly2364Ala) c.7046G>C (p.Gly2349Ala) c.6641G>C (p.Gly2214Ala) c.5999G>C (p.Gly2000Ala) c.3509G>C (p.Gly1170Ala) | |
10 | g.71798510G>T | CA377158181 | CDH23 | c.6986G>T (p.Gly2329Val) c.919G>T (n.919G>T) c.583G>T (n.583G>T) c.7001G>T (p.Gly2334Val) c.266G>T (p.Gly89Val) n.522G>T c.7181G>T (p.Gly2394Val) c.7115G>T (p.Gly2372Val) c.7178G>T (p.Gly2393Val) c.7175G>T (p.Gly2392Val) c.7121G>T (p.Gly2374Val) c.7091G>T (p.Gly2364Val) c.7046G>T (p.Gly2349Val) c.6641G>T (p.Gly2214Val) c.5999G>T (p.Gly2000Val) c.3509G>T (p.Gly1170Val) | gnomAD v4 |
10 | g.71798511G>A | CA470062090 | CDH23 | c.6987G>A (p.Gly2329=) c.920G>A (n.920G>A) c.584G>A (n.584G>A) c.7002G>A (p.Gly2334=) c.267G>A (p.Gly89=) n.523G>A c.7182G>A (p.Gly2394=) c.7116G>A (p.Gly2372=) c.7179G>A (p.Gly2393=) c.7176G>A (p.Gly2392=) c.7122G>A (p.Gly2374=) c.7092G>A (p.Gly2364=) c.7047G>A (p.Gly2349=) c.6642G>A (p.Gly2214=) c.6000G>A (p.Gly2000=) c.3510G>A (p.Gly1170=) | ClinVar dbSNP gnomAD v4 |
10 | g.71798511G>C | CA470062091 | CDH23 | c.6987G>C (p.Gly2329=) c.920G>C (n.920G>C) c.584G>C (n.584G>C) c.7002G>C (p.Gly2334=) c.267G>C (p.Gly89=) n.523G>C c.7182G>C (p.Gly2394=) c.7116G>C (p.Gly2372=) c.7179G>C (p.Gly2393=) c.7176G>C (p.Gly2392=) c.7122G>C (p.Gly2374=) c.7092G>C (p.Gly2364=) c.7047G>C (p.Gly2349=) c.6642G>C (p.Gly2214=) c.6000G>C (p.Gly2000=) c.3510G>C (p.Gly1170=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798511G= | CA1918878477 | CDH23 | c.6987G= (p.Gly2329=) c.920G= (n.920G=) c.584G= (n.584G=) c.7002G= (p.Gly2334=) c.267G= (p.Gly89=) n.523G= c.7182G= (p.Gly2394=) c.7116G= (p.Gly2372=) c.7179G= (p.Gly2393=) c.7176G= (p.Gly2392=) c.7122G= (p.Gly2374=) c.7092G= (p.Gly2364=) c.7047G= (p.Gly2349=) c.6642G= (p.Gly2214=) c.6000G= (p.Gly2000=) c.3510G= (p.Gly1170=) | |
10 | g.71798511G>T | CA470062092 | CDH23 | c.6987G>T (p.Gly2329=) c.920G>T (n.920G>T) c.584G>T (n.584G>T) c.7002G>T (p.Gly2334=) c.267G>T (p.Gly89=) n.523G>T c.7182G>T (p.Gly2394=) c.7116G>T (p.Gly2372=) c.7179G>T (p.Gly2393=) c.7176G>T (p.Gly2392=) c.7122G>T (p.Gly2374=) c.7092G>T (p.Gly2364=) c.7047G>T (p.Gly2349=) c.6642G>T (p.Gly2214=) c.6000G>T (p.Gly2000=) c.3510G>T (p.Gly1170=) | gnomAD v4 |
10 | g.71798512C>A | CA377158182 | CDH23 | c.6988C>A (p.Leu2330Met) c.921C>A (n.921C>A) c.585C>A (n.585C>A) c.7003C>A (p.Leu2335Met) c.268C>A (p.Leu90Met) n.524C>A c.7183C>A (p.Leu2395Met) c.7117C>A (p.Leu2373Met) c.7180C>A (p.Leu2394Met) c.7177C>A (p.Leu2393Met) c.7123C>A (p.Leu2375Met) c.7093C>A (p.Leu2365Met) c.7048C>A (p.Leu2350Met) c.6643C>A (p.Leu2215Met) c.6001C>A (p.Leu2001Met) c.3511C>A (p.Leu1171Met) | |
10 | g.71798512C= | CA1918878478 | CDH23 | c.6988C= (p.Leu2330=) c.921C= (n.921C=) c.585C= (n.585C=) c.7003C= (p.Leu2335=) c.268C= (p.Leu90=) n.524C= c.7183C= (p.Leu2395=) c.7117C= (p.Leu2373=) c.7180C= (p.Leu2394=) c.7177C= (p.Leu2393=) c.7123C= (p.Leu2375=) c.7093C= (p.Leu2365=) c.7048C= (p.Leu2350=) c.6643C= (p.Leu2215=) c.6001C= (p.Leu2001=) c.3511C= (p.Leu1171=) | |
10 | g.71798512C>G | CA377158183 | CDH23 | c.6988C>G (p.Leu2330Val) c.921C>G (n.921C>G) c.585C>G (n.585C>G) c.7003C>G (p.Leu2335Val) c.268C>G (p.Leu90Val) n.524C>G c.7183C>G (p.Leu2395Val) c.7117C>G (p.Leu2373Val) c.7180C>G (p.Leu2394Val) c.7177C>G (p.Leu2393Val) c.7123C>G (p.Leu2375Val) c.7093C>G (p.Leu2365Val) c.7048C>G (p.Leu2350Val) c.6643C>G (p.Leu2215Val) c.6001C>G (p.Leu2001Val) c.3511C>G (p.Leu1171Val) | |
10 | g.71798512C>T | CA470062093 | CDH23 | c.6988C>T (p.Leu2330=) c.921C>T (n.921C>T) c.585C>T (n.585C>T) c.7003C>T (p.Leu2335=) c.268C>T (p.Leu90=) n.524C>T c.7183C>T (p.Leu2395=) c.7117C>T (p.Leu2373=) c.7180C>T (p.Leu2394=) c.7177C>T (p.Leu2393=) c.7123C>T (p.Leu2375=) c.7093C>T (p.Leu2365=) c.7048C>T (p.Leu2350=) c.6643C>T (p.Leu2215=) c.6001C>T (p.Leu2001=) c.3511C>T (p.Leu1171=) | dbSNP |
10 | g.71798513T>A | CA377158186 | CDH23 | c.6989T>A (p.Leu2330Gln) c.922T>A (n.922T>A) c.586T>A (n.586T>A) c.7004T>A (p.Leu2335Gln) c.269T>A (p.Leu90Gln) n.525T>A c.7184T>A (p.Leu2395Gln) c.7118T>A (p.Leu2373Gln) c.7181T>A (p.Leu2394Gln) c.7178T>A (p.Leu2393Gln) c.7124T>A (p.Leu2375Gln) c.7094T>A (p.Leu2365Gln) c.7049T>A (p.Leu2350Gln) c.6644T>A (p.Leu2215Gln) c.6002T>A (p.Leu2001Gln) c.3512T>A (p.Leu1171Gln) | dbSNP |
10 | g.71798513T>C | CA377158187 | CDH23 | c.6989T>C (p.Leu2330Pro) c.922T>C (n.922T>C) c.586T>C (n.586T>C) c.7004T>C (p.Leu2335Pro) c.269T>C (p.Leu90Pro) n.525T>C c.7184T>C (p.Leu2395Pro) c.7118T>C (p.Leu2373Pro) c.7181T>C (p.Leu2394Pro) c.7178T>C (p.Leu2393Pro) c.7124T>C (p.Leu2375Pro) c.7094T>C (p.Leu2365Pro) c.7049T>C (p.Leu2350Pro) c.6644T>C (p.Leu2215Pro) c.6002T>C (p.Leu2001Pro) c.3512T>C (p.Leu1171Pro) | |
10 | g.71798513T>G | CA377158188 | CDH23 | c.6989T>G (p.Leu2330Arg) c.922T>G (n.922T>G) c.586T>G (n.586T>G) c.7004T>G (p.Leu2335Arg) c.269T>G (p.Leu90Arg) n.525T>G c.7184T>G (p.Leu2395Arg) c.7118T>G (p.Leu2373Arg) c.7181T>G (p.Leu2394Arg) c.7178T>G (p.Leu2393Arg) c.7124T>G (p.Leu2375Arg) c.7094T>G (p.Leu2365Arg) c.7049T>G (p.Leu2350Arg) c.6644T>G (p.Leu2215Arg) c.6002T>G (p.Leu2001Arg) c.3512T>G (p.Leu1171Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798513T= | CA1918878479 | CDH23 | c.6989T= (p.Leu2330=) c.922T= (n.922T=) c.586T= (n.586T=) c.7004T= (p.Leu2335=) c.269T= (p.Leu90=) n.525T= c.7184T= (p.Leu2395=) c.7118T= (p.Leu2373=) c.7181T= (p.Leu2394=) c.7178T= (p.Leu2393=) c.7124T= (p.Leu2375=) c.7094T= (p.Leu2365=) c.7049T= (p.Leu2350=) c.6644T= (p.Leu2215=) c.6002T= (p.Leu2001=) c.3512T= (p.Leu1171=) | |
10 | g.71798514G>A | CA470062094 | CDH23 | c.6990G>A (p.Leu2330=) c.923G>A (n.923G>A) c.587G>A (n.587G>A) c.7005G>A (p.Leu2335=) c.270G>A (p.Leu90=) n.526G>A c.7185G>A (p.Leu2395=) c.7119G>A (p.Leu2373=) c.7182G>A (p.Leu2394=) c.7179G>A (p.Leu2393=) c.7125G>A (p.Leu2375=) c.7095G>A (p.Leu2365=) c.7050G>A (p.Leu2350=) c.6645G>A (p.Leu2215=) c.6003G>A (p.Leu2001=) c.3513G>A (p.Leu1171=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798514G>C | CA470062095 | CDH23 | c.6990G>C (p.Leu2330=) c.923G>C (n.923G>C) c.587G>C (n.587G>C) c.7005G>C (p.Leu2335=) c.270G>C (p.Leu90=) n.526G>C c.7185G>C (p.Leu2395=) c.7119G>C (p.Leu2373=) c.7182G>C (p.Leu2394=) c.7179G>C (p.Leu2393=) c.7125G>C (p.Leu2375=) c.7095G>C (p.Leu2365=) c.7050G>C (p.Leu2350=) c.6645G>C (p.Leu2215=) c.6003G>C (p.Leu2001=) c.3513G>C (p.Leu1171=) | |
10 | g.71798514G= | CA1918878480 | CDH23 | c.6990G= (p.Leu2330=) c.923G= (n.923G=) c.587G= (n.587G=) c.7005G= (p.Leu2335=) c.270G= (p.Leu90=) n.526G= c.7185G= (p.Leu2395=) c.7119G= (p.Leu2373=) c.7182G= (p.Leu2394=) c.7179G= (p.Leu2393=) c.7125G= (p.Leu2375=) c.7095G= (p.Leu2365=) c.7050G= (p.Leu2350=) c.6645G= (p.Leu2215=) c.6003G= (p.Leu2001=) c.3513G= (p.Leu1171=) | |
10 | g.71798514G>T | CA137558 | CDH23 | c.6990G>T (p.Leu2330=) c.923G>T (n.923G>T) c.587G>T (n.587G>T) c.7005G>T (p.Leu2335=) c.270G>T (p.Leu90=) n.526G>T c.7185G>T (p.Leu2395=) c.7119G>T (p.Leu2373=) c.7182G>T (p.Leu2394=) c.7179G>T (p.Leu2393=) c.7125G>T (p.Leu2375=) c.7095G>T (p.Leu2365=) c.7050G>T (p.Leu2350=) c.6645G>T (p.Leu2215=) c.6003G>T (p.Leu2001=) c.3513G>T (p.Leu1171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798515G>A | CA377158198 | CDH23 | c.6991G>A (p.Val2331Ile) c.924G>A (n.924G>A) c.588G>A (n.588G>A) c.7006G>A (p.Val2336Ile) c.271G>A (p.Val91Ile) n.527G>A c.7186G>A (p.Val2396Ile) c.7120G>A (p.Val2374Ile) c.7183G>A (p.Val2395Ile) c.7180G>A (p.Val2394Ile) c.7126G>A (p.Val2376Ile) c.7096G>A (p.Val2366Ile) c.7051G>A (p.Val2351Ile) c.6646G>A (p.Val2216Ile) c.6004G>A (p.Val2002Ile) c.3514G>A (p.Val1172Ile) | gnomAD v4 |
10 | g.71798515G>C | CA377158200 | CDH23 | c.6991G>C (p.Val2331Leu) c.924G>C (n.924G>C) c.588G>C (n.588G>C) c.7006G>C (p.Val2336Leu) c.271G>C (p.Val91Leu) n.527G>C c.7186G>C (p.Val2396Leu) c.7120G>C (p.Val2374Leu) c.7183G>C (p.Val2395Leu) c.7180G>C (p.Val2394Leu) c.7126G>C (p.Val2376Leu) c.7096G>C (p.Val2366Leu) c.7051G>C (p.Val2351Leu) c.6646G>C (p.Val2216Leu) c.6004G>C (p.Val2002Leu) c.3514G>C (p.Val1172Leu) | |
10 | g.71798515G>T | CA377158204 | CDH23 | c.6991G>T (p.Val2331Phe) c.924G>T (n.924G>T) c.588G>T (n.588G>T) c.7006G>T (p.Val2336Phe) c.271G>T (p.Val91Phe) n.527G>T c.7186G>T (p.Val2396Phe) c.7120G>T (p.Val2374Phe) c.7183G>T (p.Val2395Phe) c.7180G>T (p.Val2394Phe) c.7126G>T (p.Val2376Phe) c.7096G>T (p.Val2366Phe) c.7051G>T (p.Val2351Phe) c.6646G>T (p.Val2216Phe) c.6004G>T (p.Val2002Phe) c.3514G>T (p.Val1172Phe) | |
10 | g.71798516T>A | CA377158207 | CDH23 | c.6992T>A (p.Val2331Asp) c.925T>A (n.925T>A) c.589T>A (n.589T>A) c.7007T>A (p.Val2336Asp) c.272T>A (p.Val91Asp) n.528T>A c.7187T>A (p.Val2396Asp) c.7121T>A (p.Val2374Asp) c.7184T>A (p.Val2395Asp) c.7181T>A (p.Val2394Asp) c.7127T>A (p.Val2376Asp) c.7097T>A (p.Val2366Asp) c.7052T>A (p.Val2351Asp) c.6647T>A (p.Val2216Asp) c.6005T>A (p.Val2002Asp) c.3515T>A (p.Val1172Asp) | |
10 | g.71798516T>C | CA377158216 | CDH23 | c.6992T>C (p.Val2331Ala) c.925T>C (n.925T>C) c.589T>C (n.589T>C) c.7007T>C (p.Val2336Ala) c.272T>C (p.Val91Ala) n.528T>C c.7187T>C (p.Val2396Ala) c.7121T>C (p.Val2374Ala) c.7184T>C (p.Val2395Ala) c.7181T>C (p.Val2394Ala) c.7127T>C (p.Val2376Ala) c.7097T>C (p.Val2366Ala) c.7052T>C (p.Val2351Ala) c.6647T>C (p.Val2216Ala) c.6005T>C (p.Val2002Ala) c.3515T>C (p.Val1172Ala) | ClinVar dbSNP |
10 | g.71798516T>G | CA377158210 | CDH23 | c.6992T>G (p.Val2331Gly) c.925T>G (n.925T>G) c.589T>G (n.589T>G) c.7007T>G (p.Val2336Gly) c.272T>G (p.Val91Gly) n.528T>G c.7187T>G (p.Val2396Gly) c.7121T>G (p.Val2374Gly) c.7184T>G (p.Val2395Gly) c.7181T>G (p.Val2394Gly) c.7127T>G (p.Val2376Gly) c.7097T>G (p.Val2366Gly) c.7052T>G (p.Val2351Gly) c.6647T>G (p.Val2216Gly) c.6005T>G (p.Val2002Gly) c.3515T>G (p.Val1172Gly) | |
10 | g.71798517C>A | CA470062098 | CDH23 | c.6993C>A (p.Val2331=) c.926C>A (n.926C>A) c.590C>A (n.590C>A) c.7008C>A (p.Val2336=) c.273C>A (p.Val91=) n.529C>A c.7188C>A (p.Val2396=) c.7122C>A (p.Val2374=) c.7185C>A (p.Val2395=) c.7182C>A (p.Val2394=) c.7128C>A (p.Val2376=) c.7098C>A (p.Val2366=) c.7053C>A (p.Val2351=) c.6648C>A (p.Val2216=) c.6006C>A (p.Val2002=) c.3516C>A (p.Val1172=) | |
10 | g.71798517C= | CA1918878481 | CDH23 | c.6993C= (p.Val2331=) c.926C= (n.926C=) c.590C= (n.590C=) c.7008C= (p.Val2336=) c.273C= (p.Val91=) n.529C= c.7188C= (p.Val2396=) c.7122C= (p.Val2374=) c.7185C= (p.Val2395=) c.7182C= (p.Val2394=) c.7128C= (p.Val2376=) c.7098C= (p.Val2366=) c.7053C= (p.Val2351=) c.6648C= (p.Val2216=) c.6006C= (p.Val2002=) c.3516C= (p.Val1172=) | |
10 | g.71798517C>G | CA5546228 | CDH23 | c.6993C>G (p.Val2331=) c.926C>G (n.926C>G) c.590C>G (n.590C>G) c.7008C>G (p.Val2336=) c.273C>G (p.Val91=) n.529C>G c.7188C>G (p.Val2396=) c.7122C>G (p.Val2374=) c.7185C>G (p.Val2395=) c.7182C>G (p.Val2394=) c.7128C>G (p.Val2376=) c.7098C>G (p.Val2366=) c.7053C>G (p.Val2351=) c.6648C>G (p.Val2216=) c.6006C>G (p.Val2002=) c.3516C>G (p.Val1172=) | ClinVar dbSNP ExAC gnomAD v4 |
10 | g.71798517C>T | CA470062099 | CDH23 | c.6993C>T (p.Val2331=) c.926C>T (n.926C>T) c.590C>T (n.590C>T) c.7008C>T (p.Val2336=) c.273C>T (p.Val91=) n.529C>T c.7188C>T (p.Val2396=) c.7122C>T (p.Val2374=) c.7185C>T (p.Val2395=) c.7182C>T (p.Val2394=) c.7128C>T (p.Val2376=) c.7098C>T (p.Val2366=) c.7053C>T (p.Val2351=) c.6648C>T (p.Val2216=) c.6006C>T (p.Val2002=) c.3516C>T (p.Val1172=) | |
10 | g.71798518A>C | CA377158220 | CDH23 | c.6994A>C (p.Thr2332Pro) c.927A>C (n.927A>C) c.591A>C (n.591A>C) c.7009A>C (p.Thr2337Pro) c.274A>C (p.Thr92Pro) n.530A>C c.7189A>C (p.Thr2397Pro) c.7123A>C (p.Thr2375Pro) c.7186A>C (p.Thr2396Pro) c.7183A>C (p.Thr2395Pro) c.7129A>C (p.Thr2377Pro) c.7099A>C (p.Thr2367Pro) c.7054A>C (p.Thr2352Pro) c.6649A>C (p.Thr2217Pro) c.6007A>C (p.Thr2003Pro) c.3517A>C (p.Thr1173Pro) | |
10 | g.71798518A>G | CA377158223 | CDH23 | c.6994A>G (p.Thr2332Ala) c.927A>G (n.927A>G) c.591A>G (n.591A>G) c.7009A>G (p.Thr2337Ala) c.274A>G (p.Thr92Ala) n.530A>G c.7189A>G (p.Thr2397Ala) c.7123A>G (p.Thr2375Ala) c.7186A>G (p.Thr2396Ala) c.7183A>G (p.Thr2395Ala) c.7129A>G (p.Thr2377Ala) c.7099A>G (p.Thr2367Ala) c.7054A>G (p.Thr2352Ala) c.6649A>G (p.Thr2217Ala) c.6007A>G (p.Thr2003Ala) c.3517A>G (p.Thr1173Ala) | |
10 | g.71798518A>T | CA377158226 | CDH23 | c.6994A>T (p.Thr2332Ser) c.927A>T (n.927A>T) c.591A>T (n.591A>T) c.7009A>T (p.Thr2337Ser) c.274A>T (p.Thr92Ser) n.530A>T c.7189A>T (p.Thr2397Ser) c.7123A>T (p.Thr2375Ser) c.7186A>T (p.Thr2396Ser) c.7183A>T (p.Thr2395Ser) c.7129A>T (p.Thr2377Ser) c.7099A>T (p.Thr2367Ser) c.7054A>T (p.Thr2352Ser) c.6649A>T (p.Thr2217Ser) c.6007A>T (p.Thr2003Ser) c.3517A>T (p.Thr1173Ser) | |
10 | g.71798519C>A | CA377158230 | CDH23 | c.6995C>A (p.Thr2332Asn) c.928C>A (n.928C>A) c.592C>A (n.592C>A) c.7010C>A (p.Thr2337Asn) c.275C>A (p.Thr92Asn) n.531C>A c.7190C>A (p.Thr2397Asn) c.7124C>A (p.Thr2375Asn) c.7187C>A (p.Thr2396Asn) c.7184C>A (p.Thr2395Asn) c.7130C>A (p.Thr2377Asn) c.7100C>A (p.Thr2367Asn) c.7055C>A (p.Thr2352Asn) c.6650C>A (p.Thr2217Asn) c.6008C>A (p.Thr2003Asn) c.3518C>A (p.Thr1173Asn) | |
10 | g.71798519C= | CA1918878482 | CDH23 | c.6995C= (p.Thr2332=) c.928C= (n.928C=) c.592C= (n.592C=) c.7010C= (p.Thr2337=) c.275C= (p.Thr92=) n.531C= c.7190C= (p.Thr2397=) c.7124C= (p.Thr2375=) c.7187C= (p.Thr2396=) c.7184C= (p.Thr2395=) c.7130C= (p.Thr2377=) c.7100C= (p.Thr2367=) c.7055C= (p.Thr2352=) c.6650C= (p.Thr2217=) c.6008C= (p.Thr2003=) c.3518C= (p.Thr1173=) | |
10 | g.71798519C>G | CA377158235 | CDH23 | c.6995C>G (p.Thr2332Ser) c.928C>G (n.928C>G) c.592C>G (n.592C>G) c.7010C>G (p.Thr2337Ser) c.275C>G (p.Thr92Ser) n.531C>G c.7190C>G (p.Thr2397Ser) c.7124C>G (p.Thr2375Ser) c.7187C>G (p.Thr2396Ser) c.7184C>G (p.Thr2395Ser) c.7130C>G (p.Thr2377Ser) c.7100C>G (p.Thr2367Ser) c.7055C>G (p.Thr2352Ser) c.6650C>G (p.Thr2217Ser) c.6008C>G (p.Thr2003Ser) c.3518C>G (p.Thr1173Ser) | |
10 | g.71798519C>T | CA377158241 | CDH23 | c.6995C>T (p.Thr2332Ile) c.928C>T (n.928C>T) c.592C>T (n.592C>T) c.7010C>T (p.Thr2337Ile) c.275C>T (p.Thr92Ile) n.531C>T c.7190C>T (p.Thr2397Ile) c.7124C>T (p.Thr2375Ile) c.7187C>T (p.Thr2396Ile) c.7184C>T (p.Thr2395Ile) c.7130C>T (p.Thr2377Ile) c.7100C>T (p.Thr2367Ile) c.7055C>T (p.Thr2352Ile) c.6650C>T (p.Thr2217Ile) c.6008C>T (p.Thr2003Ile) c.3518C>T (p.Thr1173Ile) | dbSNP |
10 | g.71798520C>A | CA470062100 | CDH23 | c.6996C>A (p.Thr2332=) c.929C>A (n.929C>A) c.593C>A (n.593C>A) c.7011C>A (p.Thr2337=) c.276C>A (p.Thr92=) n.532C>A c.7191C>A (p.Thr2397=) c.7125C>A (p.Thr2375=) c.7188C>A (p.Thr2396=) c.7185C>A (p.Thr2395=) c.7131C>A (p.Thr2377=) c.7101C>A (p.Thr2367=) c.7056C>A (p.Thr2352=) c.6651C>A (p.Thr2217=) c.6009C>A (p.Thr2003=) c.3519C>A (p.Thr1173=) | |
10 | g.71798520C>G | CA470062102 | CDH23 | c.6996C>G (p.Thr2332=) c.929C>G (n.929C>G) c.593C>G (n.593C>G) c.7011C>G (p.Thr2337=) c.276C>G (p.Thr92=) n.532C>G c.7191C>G (p.Thr2397=) c.7125C>G (p.Thr2375=) c.7188C>G (p.Thr2396=) c.7185C>G (p.Thr2395=) c.7131C>G (p.Thr2377=) c.7101C>G (p.Thr2367=) c.7056C>G (p.Thr2352=) c.6651C>G (p.Thr2217=) c.6009C>G (p.Thr2003=) c.3519C>G (p.Thr1173=) | |
10 | g.71798520C>T | CA470062103 | CDH23 | c.6996C>T (p.Thr2332=) c.929C>T (n.929C>T) c.593C>T (n.593C>T) c.7011C>T (p.Thr2337=) c.276C>T (p.Thr92=) n.532C>T c.7191C>T (p.Thr2397=) c.7125C>T (p.Thr2375=) c.7188C>T (p.Thr2396=) c.7185C>T (p.Thr2395=) c.7131C>T (p.Thr2377=) c.7101C>T (p.Thr2367=) c.7056C>T (p.Thr2352=) c.6651C>T (p.Thr2217=) c.6009C>T (p.Thr2003=) c.3519C>T (p.Thr1173=) | gnomAD v4 |
10 | g.71798521T>A | CA377158243 | CDH23 | c.6997T>A (p.Tyr2333Asn) c.930T>A (n.930T>A) c.594T>A (n.594T>A) c.7012T>A (p.Tyr2338Asn) c.277T>A (p.Tyr93Asn) n.533T>A c.7192T>A (p.Tyr2398Asn) c.7126T>A (p.Tyr2376Asn) c.7189T>A (p.Tyr2397Asn) c.7186T>A (p.Tyr2396Asn) c.7132T>A (p.Tyr2378Asn) c.7102T>A (p.Tyr2368Asn) c.7057T>A (p.Tyr2353Asn) c.6652T>A (p.Tyr2218Asn) c.6010T>A (p.Tyr2004Asn) c.3520T>A (p.Tyr1174Asn) | |
10 | g.71798521T>C | CA209469662 | CDH23 | c.6997T>C (p.Tyr2333His) c.930T>C (n.930T>C) c.594T>C (n.594T>C) c.7012T>C (p.Tyr2338His) c.277T>C (p.Tyr93His) n.533T>C c.7192T>C (p.Tyr2398His) c.7126T>C (p.Tyr2376His) c.7189T>C (p.Tyr2397His) c.7186T>C (p.Tyr2396His) c.7132T>C (p.Tyr2378His) c.7102T>C (p.Tyr2368His) c.7057T>C (p.Tyr2353His) c.6652T>C (p.Tyr2218His) c.6010T>C (p.Tyr2004His) c.3520T>C (p.Tyr1174His) | dbSNP |
10 | g.71798521T>G | CA377158247 | CDH23 | c.6997T>G (p.Tyr2333Asp) c.930T>G (n.930T>G) c.594T>G (n.594T>G) c.7012T>G (p.Tyr2338Asp) c.277T>G (p.Tyr93Asp) n.533T>G c.7192T>G (p.Tyr2398Asp) c.7126T>G (p.Tyr2376Asp) c.7189T>G (p.Tyr2397Asp) c.7186T>G (p.Tyr2396Asp) c.7132T>G (p.Tyr2378Asp) c.7102T>G (p.Tyr2368Asp) c.7057T>G (p.Tyr2353Asp) c.6652T>G (p.Tyr2218Asp) c.6010T>G (p.Tyr2004Asp) c.3520T>G (p.Tyr1174Asp) | |
10 | g.71798521T= | CA1918878483 | CDH23 | c.6997T= (p.Tyr2333=) c.930T= (n.930T=) c.594T= (n.594T=) c.7012T= (p.Tyr2338=) c.277T= (p.Tyr93=) n.533T= c.7192T= (p.Tyr2398=) c.7126T= (p.Tyr2376=) c.7189T= (p.Tyr2397=) c.7186T= (p.Tyr2396=) c.7132T= (p.Tyr2378=) c.7102T= (p.Tyr2368=) c.7057T= (p.Tyr2353=) c.6652T= (p.Tyr2218=) c.6010T= (p.Tyr2004=) c.3520T= (p.Tyr1174=) | |
10 | g.71798522A>C | CA377158249 | CDH23 | c.6998A>C (p.Tyr2333Ser) c.931A>C (n.931A>C) c.595A>C (n.595A>C) c.7013A>C (p.Tyr2338Ser) c.278A>C (p.Tyr93Ser) n.534A>C c.7193A>C (p.Tyr2398Ser) c.7127A>C (p.Tyr2376Ser) c.7190A>C (p.Tyr2397Ser) c.7187A>C (p.Tyr2396Ser) c.7133A>C (p.Tyr2378Ser) c.7103A>C (p.Tyr2368Ser) c.7058A>C (p.Tyr2353Ser) c.6653A>C (p.Tyr2218Ser) c.6011A>C (p.Tyr2004Ser) c.3521A>C (p.Tyr1174Ser) | |
10 | g.71798522A>G | CA377158250 | CDH23 | c.6998A>G (p.Tyr2333Cys) c.931A>G (n.931A>G) c.595A>G (n.595A>G) c.7013A>G (p.Tyr2338Cys) c.278A>G (p.Tyr93Cys) n.534A>G c.7193A>G (p.Tyr2398Cys) c.7127A>G (p.Tyr2376Cys) c.7190A>G (p.Tyr2397Cys) c.7187A>G (p.Tyr2396Cys) c.7133A>G (p.Tyr2378Cys) c.7103A>G (p.Tyr2368Cys) c.7058A>G (p.Tyr2353Cys) c.6653A>G (p.Tyr2218Cys) c.6011A>G (p.Tyr2004Cys) c.3521A>G (p.Tyr1174Cys) | |
10 | g.71798522A>T | CA377158251 | CDH23 | c.6998A>T (p.Tyr2333Phe) c.931A>T (n.931A>T) c.595A>T (n.595A>T) c.7013A>T (p.Tyr2338Phe) c.278A>T (p.Tyr93Phe) n.534A>T c.7193A>T (p.Tyr2398Phe) c.7127A>T (p.Tyr2376Phe) c.7190A>T (p.Tyr2397Phe) c.7187A>T (p.Tyr2396Phe) c.7133A>T (p.Tyr2378Phe) c.7103A>T (p.Tyr2368Phe) c.7058A>T (p.Tyr2353Phe) c.6653A>T (p.Tyr2218Phe) c.6011A>T (p.Tyr2004Phe) c.3521A>T (p.Tyr1174Phe) | |
10 | g.71798523C>A | CA377158252 | CDH23 | c.6999C>A (p.Tyr2333Ter) c.932C>A (n.932C>A) c.596C>A (n.596C>A) c.7014C>A (p.Tyr2338Ter) c.279C>A (p.Tyr93Ter) n.535C>A c.7194C>A (p.Tyr2398Ter) c.7128C>A (p.Tyr2376Ter) c.7191C>A (p.Tyr2397Ter) c.7188C>A (p.Tyr2396Ter) c.7134C>A (p.Tyr2378Ter) c.7104C>A (p.Tyr2368Ter) c.7059C>A (p.Tyr2353Ter) c.6654C>A (p.Tyr2218Ter) c.6012C>A (p.Tyr2004Ter) c.3522C>A (p.Tyr1174Ter) | |
10 | g.71798523C= | CA1918878484 | CDH23 | c.6999C= (p.Tyr2333=) c.932C= (n.932C=) c.596C= (n.596C=) c.7014C= (p.Tyr2338=) c.279C= (p.Tyr93=) n.535C= c.7194C= (p.Tyr2398=) c.7128C= (p.Tyr2376=) c.7191C= (p.Tyr2397=) c.7188C= (p.Tyr2396=) c.7134C= (p.Tyr2378=) c.7104C= (p.Tyr2368=) c.7059C= (p.Tyr2353=) c.6654C= (p.Tyr2218=) c.6012C= (p.Tyr2004=) c.3522C= (p.Tyr1174=) | |
10 | g.71798523C>G | CA377158253 | CDH23 | c.6999C>G (p.Tyr2333Ter) c.932C>G (n.932C>G) c.596C>G (n.596C>G) c.7014C>G (p.Tyr2338Ter) c.279C>G (p.Tyr93Ter) n.535C>G c.7194C>G (p.Tyr2398Ter) c.7128C>G (p.Tyr2376Ter) c.7191C>G (p.Tyr2397Ter) c.7188C>G (p.Tyr2396Ter) c.7134C>G (p.Tyr2378Ter) c.7104C>G (p.Tyr2368Ter) c.7059C>G (p.Tyr2353Ter) c.6654C>G (p.Tyr2218Ter) c.6012C>G (p.Tyr2004Ter) c.3522C>G (p.Tyr1174Ter) | |
10 | g.71798523C>T | CA209469663 | CDH23 | c.6999C>T (p.Tyr2333=) c.932C>T (n.932C>T) c.596C>T (n.596C>T) c.7014C>T (p.Tyr2338=) c.279C>T (p.Tyr93=) n.535C>T c.7194C>T (p.Tyr2398=) c.7128C>T (p.Tyr2376=) c.7191C>T (p.Tyr2397=) c.7188C>T (p.Tyr2396=) c.7134C>T (p.Tyr2378=) c.7104C>T (p.Tyr2368=) c.7059C>T (p.Tyr2353=) c.6654C>T (p.Tyr2218=) c.6012C>T (p.Tyr2004=) c.3522C>T (p.Tyr1174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798524A>C | CA377158255 | CDH23 | c.7000A>C (p.Thr2334Pro) c.933A>C (n.933A>C) c.597A>C (n.597A>C) c.7015A>C (p.Thr2339Pro) c.280A>C (p.Thr94Pro) n.536A>C c.7195A>C (p.Thr2399Pro) c.7129A>C (p.Thr2377Pro) c.7192A>C (p.Thr2398Pro) c.7189A>C (p.Thr2397Pro) c.7135A>C (p.Thr2379Pro) c.7105A>C (p.Thr2369Pro) c.7060A>C (p.Thr2354Pro) c.6655A>C (p.Thr2219Pro) c.6013A>C (p.Thr2005Pro) c.3523A>C (p.Thr1175Pro) | |
10 | g.71798524A>G | CA377158263 | CDH23 | c.7000A>G (p.Thr2334Ala) c.933A>G (n.933A>G) c.597A>G (n.597A>G) c.7015A>G (p.Thr2339Ala) c.280A>G (p.Thr94Ala) n.536A>G c.7195A>G (p.Thr2399Ala) c.7129A>G (p.Thr2377Ala) c.7192A>G (p.Thr2398Ala) c.7189A>G (p.Thr2397Ala) c.7135A>G (p.Thr2379Ala) c.7105A>G (p.Thr2369Ala) c.7060A>G (p.Thr2354Ala) c.6655A>G (p.Thr2219Ala) c.6013A>G (p.Thr2005Ala) c.3523A>G (p.Thr1175Ala) | |
10 | g.71798524A>T | CA377158266 | CDH23 | c.7000A>T (p.Thr2334Ser) c.933A>T (n.933A>T) c.597A>T (n.597A>T) c.7015A>T (p.Thr2339Ser) c.280A>T (p.Thr94Ser) n.536A>T c.7195A>T (p.Thr2399Ser) c.7129A>T (p.Thr2377Ser) c.7192A>T (p.Thr2398Ser) c.7189A>T (p.Thr2397Ser) c.7135A>T (p.Thr2379Ser) c.7105A>T (p.Thr2369Ser) c.7060A>T (p.Thr2354Ser) c.6655A>T (p.Thr2219Ser) c.6013A>T (p.Thr2005Ser) c.3523A>T (p.Thr1175Ser) | |
10 | g.71798524_71798525delinsAC | CA1918878485 | CDH23 | c.7000_7001delinsAC (p.Thr2334=) c.933_934delinsAC (n.933_934delinsAC) c.597_598delinsAC (n.597_598delinsAC) c.7015_7016delinsAC (p.Thr2339=) c.280_281delinsAC (p.Thr94=) n.536_537delinsAC c.7195_7196delinsAC (p.Thr2399=) c.7129_7130delinsAC (p.Thr2377=) c.7192_7193delinsAC (p.Thr2398=) c.7189_7190delinsAC (p.Thr2397=) c.7135_7136delinsAC (p.Thr2379=) c.7105_7106delinsAC (p.Thr2369=) c.7060_7061delinsAC (p.Thr2354=) c.6655_6656delinsAC (p.Thr2219=) c.6013_6014delinsAC (p.Thr2005=) c.3523_3524delinsAC (p.Thr1175=) | |
10 | g.71798525C>A | CA377158269 | CDH23 | c.7001C>A (p.Thr2334Asn) c.934C>A (n.934C>A) c.598C>A (n.598C>A) c.7016C>A (p.Thr2339Asn) c.281C>A (p.Thr94Asn) n.537C>A c.7196C>A (p.Thr2399Asn) c.7130C>A (p.Thr2377Asn) c.7193C>A (p.Thr2398Asn) c.7190C>A (p.Thr2397Asn) c.7136C>A (p.Thr2379Asn) c.7106C>A (p.Thr2369Asn) c.7061C>A (p.Thr2354Asn) c.6656C>A (p.Thr2219Asn) c.6014C>A (p.Thr2005Asn) c.3524C>A (p.Thr1175Asn) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798525C= | CA1918878486 | CDH23 | c.7001C= (p.Thr2334=) c.934C= (n.934C=) c.598C= (n.598C=) c.7016C= (p.Thr2339=) c.281C= (p.Thr94=) n.537C= c.7196C= (p.Thr2399=) c.7130C= (p.Thr2377=) c.7193C= (p.Thr2398=) c.7190C= (p.Thr2397=) c.7136C= (p.Thr2379=) c.7106C= (p.Thr2369=) c.7061C= (p.Thr2354=) c.6656C= (p.Thr2219=) c.6014C= (p.Thr2005=) c.3524C= (p.Thr1175=) | |
10 | g.71798525C>G | CA377158272 | CDH23 | c.7001C>G (p.Thr2334Ser) c.934C>G (n.934C>G) c.598C>G (n.598C>G) c.7016C>G (p.Thr2339Ser) c.281C>G (p.Thr94Ser) n.537C>G c.7196C>G (p.Thr2399Ser) c.7130C>G (p.Thr2377Ser) c.7193C>G (p.Thr2398Ser) c.7190C>G (p.Thr2397Ser) c.7136C>G (p.Thr2379Ser) c.7106C>G (p.Thr2369Ser) c.7061C>G (p.Thr2354Ser) c.6656C>G (p.Thr2219Ser) c.6014C>G (p.Thr2005Ser) c.3524C>G (p.Thr1175Ser) | |
10 | g.71798525C>T | CA377158273 | CDH23 | c.7001C>T (p.Thr2334Ile) c.934C>T (n.934C>T) c.598C>T (n.598C>T) c.7016C>T (p.Thr2339Ile) c.281C>T (p.Thr94Ile) n.537C>T c.7196C>T (p.Thr2399Ile) c.7130C>T (p.Thr2377Ile) c.7193C>T (p.Thr2398Ile) c.7190C>T (p.Thr2397Ile) c.7136C>T (p.Thr2379Ile) c.7106C>T (p.Thr2369Ile) c.7061C>T (p.Thr2354Ile) c.6656C>T (p.Thr2219Ile) c.6014C>T (p.Thr2005Ile) c.3524C>T (p.Thr1175Ile) | ClinVar dbSNP gnomAD v4 |
10 | g.71798527del | CA594706180 | CDH23 | c.7003del (p.Leu2335CysfsTer?) c.936del (n.936del) c.600del (n.600del) c.7018del (p.Leu2340CysfsTer?) c.283del (p.Leu95CysfsTer?) n.539del c.7198del (p.Leu2400CysfsTer?) c.7132del (p.Leu2378CysfsTer?) c.7195del (p.Leu2399CysfsTer?) c.7192del (p.Leu2398CysfsTer?) c.7138del (p.Leu2380CysfsTer?) c.7108del (p.Leu2370CysfsTer?) c.7063del (p.Leu2355CysfsTer?) c.6658del (p.Leu2220CysfsTer?) c.6016del (p.Leu2006CysfsTer?) c.3526del (p.Leu1176CysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798526C>A | CA470062110 | CDH23 | c.7002C>A (p.Thr2334=) c.935C>A (n.935C>A) c.599C>A (n.599C>A) c.7017C>A (p.Thr2339=) c.282C>A (p.Thr94=) n.538C>A c.7197C>A (p.Thr2399=) c.7131C>A (p.Thr2377=) c.7194C>A (p.Thr2398=) c.7191C>A (p.Thr2397=) c.7137C>A (p.Thr2379=) c.7107C>A (p.Thr2369=) c.7062C>A (p.Thr2354=) c.6657C>A (p.Thr2219=) c.6015C>A (p.Thr2005=) c.3525C>A (p.Thr1175=) | dbSNP |
10 | g.71798526C= | CA1918878487 | CDH23 | c.7002C= (p.Thr2334=) c.935C= (n.935C=) c.599C= (n.599C=) c.7017C= (p.Thr2339=) c.282C= (p.Thr94=) n.538C= c.7197C= (p.Thr2399=) c.7131C= (p.Thr2377=) c.7194C= (p.Thr2398=) c.7191C= (p.Thr2397=) c.7137C= (p.Thr2379=) c.7107C= (p.Thr2369=) c.7062C= (p.Thr2354=) c.6657C= (p.Thr2219=) c.6015C= (p.Thr2005=) c.3525C= (p.Thr1175=) | |
10 | g.71798526C>G | CA470062108 | CDH23 | c.7002C>G (p.Thr2334=) c.935C>G (n.935C>G) c.599C>G (n.599C>G) c.7017C>G (p.Thr2339=) c.282C>G (p.Thr94=) n.538C>G c.7197C>G (p.Thr2399=) c.7131C>G (p.Thr2377=) c.7194C>G (p.Thr2398=) c.7191C>G (p.Thr2397=) c.7137C>G (p.Thr2379=) c.7107C>G (p.Thr2369=) c.7062C>G (p.Thr2354=) c.6657C>G (p.Thr2219=) c.6015C>G (p.Thr2005=) c.3525C>G (p.Thr1175=) | |
10 | g.71798526C>T | CA470062107 | CDH23 | c.7002C>T (p.Thr2334=) c.935C>T (n.935C>T) c.599C>T (n.599C>T) c.7017C>T (p.Thr2339=) c.282C>T (p.Thr94=) n.538C>T c.7197C>T (p.Thr2399=) c.7131C>T (p.Thr2377=) c.7194C>T (p.Thr2398=) c.7191C>T (p.Thr2397=) c.7137C>T (p.Thr2379=) c.7107C>T (p.Thr2369=) c.7062C>T (p.Thr2354=) c.6657C>T (p.Thr2219=) c.6015C>T (p.Thr2005=) c.3525C>T (p.Thr1175=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798527C>A | CA377158274 | CDH23 | c.7003C>A (p.Leu2335Met) c.936C>A (n.936C>A) c.600C>A (n.600C>A) c.7018C>A (p.Leu2340Met) c.283C>A (p.Leu95Met) n.539C>A c.7198C>A (p.Leu2400Met) c.7132C>A (p.Leu2378Met) c.7195C>A (p.Leu2399Met) c.7192C>A (p.Leu2398Met) c.7138C>A (p.Leu2380Met) c.7108C>A (p.Leu2370Met) c.7063C>A (p.Leu2355Met) c.6658C>A (p.Leu2220Met) c.6016C>A (p.Leu2006Met) c.3526C>A (p.Leu1176Met) | dbSNP |
10 | g.71798527C= | CA1918878488 | CDH23 | c.7003C= (p.Leu2335=) c.936C= (n.936C=) c.600C= (n.600C=) c.7018C= (p.Leu2340=) c.283C= (p.Leu95=) n.539C= c.7198C= (p.Leu2400=) c.7132C= (p.Leu2378=) c.7195C= (p.Leu2399=) c.7192C= (p.Leu2398=) c.7138C= (p.Leu2380=) c.7108C= (p.Leu2370=) c.7063C= (p.Leu2355=) c.6658C= (p.Leu2220=) c.6016C= (p.Leu2006=) c.3526C= (p.Leu1176=) | |
10 | g.71798527C>G | CA377158275 | CDH23 | c.7003C>G (p.Leu2335Val) c.936C>G (n.936C>G) c.600C>G (n.600C>G) c.7018C>G (p.Leu2340Val) c.283C>G (p.Leu95Val) n.539C>G c.7198C>G (p.Leu2400Val) c.7132C>G (p.Leu2378Val) c.7195C>G (p.Leu2399Val) c.7192C>G (p.Leu2398Val) c.7138C>G (p.Leu2380Val) c.7108C>G (p.Leu2370Val) c.7063C>G (p.Leu2355Val) c.6658C>G (p.Leu2220Val) c.6016C>G (p.Leu2006Val) c.3526C>G (p.Leu1176Val) | |
10 | g.71798527C>T | CA209469664 | CDH23 | c.7003C>T (p.Leu2335=) c.936C>T (n.936C>T) c.600C>T (n.600C>T) c.7018C>T (p.Leu2340=) c.283C>T (p.Leu95=) n.539C>T c.7198C>T (p.Leu2400=) c.7132C>T (p.Leu2378=) c.7195C>T (p.Leu2399=) c.7192C>T (p.Leu2398=) c.7138C>T (p.Leu2380=) c.7108C>T (p.Leu2370=) c.7063C>T (p.Leu2355=) c.6658C>T (p.Leu2220=) c.6016C>T (p.Leu2006=) c.3526C>T (p.Leu1176=) | ClinVar dbSNP |
10 | g.71798528T>A | CA377158278 | CDH23 | c.7004T>A (p.Leu2335Gln) c.937T>A (n.937T>A) c.601T>A (n.601T>A) c.7019T>A (p.Leu2340Gln) c.284T>A (p.Leu95Gln) n.540T>A c.7199T>A (p.Leu2400Gln) c.7133T>A (p.Leu2378Gln) c.7196T>A (p.Leu2399Gln) c.7193T>A (p.Leu2398Gln) c.7139T>A (p.Leu2380Gln) c.7109T>A (p.Leu2370Gln) c.7064T>A (p.Leu2355Gln) c.6659T>A (p.Leu2220Gln) c.6017T>A (p.Leu2006Gln) c.3527T>A (p.Leu1176Gln) | |
10 | g.71798528T>C | CA377158280 | CDH23 | c.7004T>C (p.Leu2335Pro) c.937T>C (n.937T>C) c.601T>C (n.601T>C) c.7019T>C (p.Leu2340Pro) c.284T>C (p.Leu95Pro) n.540T>C c.7199T>C (p.Leu2400Pro) c.7133T>C (p.Leu2378Pro) c.7196T>C (p.Leu2399Pro) c.7193T>C (p.Leu2398Pro) c.7139T>C (p.Leu2380Pro) c.7109T>C (p.Leu2370Pro) c.7064T>C (p.Leu2355Pro) c.6659T>C (p.Leu2220Pro) c.6017T>C (p.Leu2006Pro) c.3527T>C (p.Leu1176Pro) | |
10 | g.71798528T>G | CA377158282 | CDH23 | c.7004T>G (p.Leu2335Arg) c.937T>G (n.937T>G) c.601T>G (n.601T>G) c.7019T>G (p.Leu2340Arg) c.284T>G (p.Leu95Arg) n.540T>G c.7199T>G (p.Leu2400Arg) c.7133T>G (p.Leu2378Arg) c.7196T>G (p.Leu2399Arg) c.7193T>G (p.Leu2398Arg) c.7139T>G (p.Leu2380Arg) c.7109T>G (p.Leu2370Arg) c.7064T>G (p.Leu2355Arg) c.6659T>G (p.Leu2220Arg) c.6017T>G (p.Leu2006Arg) c.3527T>G (p.Leu1176Arg) | |
10 | g.71798529G>A | CA470062111 | CDH23 | c.7005G>A (p.Leu2335=) c.938G>A (n.938G>A) c.602G>A (n.602G>A) c.7020G>A (p.Leu2340=) c.285G>A (p.Leu95=) n.541G>A c.7200G>A (p.Leu2400=) c.7134G>A (p.Leu2378=) c.7197G>A (p.Leu2399=) c.7194G>A (p.Leu2398=) c.7140G>A (p.Leu2380=) c.7110G>A (p.Leu2370=) c.7065G>A (p.Leu2355=) c.6660G>A (p.Leu2220=) c.6018G>A (p.Leu2006=) c.3528G>A (p.Leu1176=) | ClinVar dbSNP gnomAD v4 |
10 | g.71798529G>C | CA470062112 | CDH23 | c.7005G>C (p.Leu2335=) c.938G>C (n.938G>C) c.602G>C (n.602G>C) c.7020G>C (p.Leu2340=) c.285G>C (p.Leu95=) n.541G>C c.7200G>C (p.Leu2400=) c.7134G>C (p.Leu2378=) c.7197G>C (p.Leu2399=) c.7194G>C (p.Leu2398=) c.7140G>C (p.Leu2380=) c.7110G>C (p.Leu2370=) c.7065G>C (p.Leu2355=) c.6660G>C (p.Leu2220=) c.6018G>C (p.Leu2006=) c.3528G>C (p.Leu1176=) | gnomAD v4 |
10 | g.71798529G>T | CA470062113 | CDH23 | c.7005G>T (p.Leu2335=) c.938G>T (n.938G>T) c.602G>T (n.602G>T) c.7020G>T (p.Leu2340=) c.285G>T (p.Leu95=) n.541G>T c.7200G>T (p.Leu2400=) c.7134G>T (p.Leu2378=) c.7197G>T (p.Leu2399=) c.7194G>T (p.Leu2398=) c.7140G>T (p.Leu2380=) c.7110G>T (p.Leu2370=) c.7065G>T (p.Leu2355=) c.6660G>T (p.Leu2220=) c.6018G>T (p.Leu2006=) c.3528G>T (p.Leu1176=) | |
10 | g.71798530C>A | CA377158284 | CDH23 | c.7006C>A (p.Leu2336Met) c.939C>A (n.939C>A) c.603C>A (n.603C>A) c.7021C>A (p.Leu2341Met) c.286C>A (p.Leu96Met) n.542C>A c.7201C>A (p.Leu2401Met) c.7135C>A (p.Leu2379Met) c.7198C>A (p.Leu2400Met) c.7195C>A (p.Leu2399Met) c.7141C>A (p.Leu2381Met) c.7111C>A (p.Leu2371Met) c.7066C>A (p.Leu2356Met) c.6661C>A (p.Leu2221Met) c.6019C>A (p.Leu2007Met) c.3529C>A (p.Leu1177Met) | ClinVar dbSNP gnomAD v4 |
10 | g.71798530C= | CA1918878489 | CDH23 | c.7006C= (p.Leu2336=) c.939C= (n.939C=) c.603C= (n.603C=) c.7021C= (p.Leu2341=) c.286C= (p.Leu96=) n.542C= c.7201C= (p.Leu2401=) c.7135C= (p.Leu2379=) c.7198C= (p.Leu2400=) c.7195C= (p.Leu2399=) c.7141C= (p.Leu2381=) c.7111C= (p.Leu2371=) c.7066C= (p.Leu2356=) c.6661C= (p.Leu2221=) c.6019C= (p.Leu2007=) c.3529C= (p.Leu1177=) | |
10 | g.71798530C>G | CA377158283 | CDH23 | c.7006C>G (p.Leu2336Val) c.939C>G (n.939C>G) c.603C>G (n.603C>G) c.7021C>G (p.Leu2341Val) c.286C>G (p.Leu96Val) n.542C>G c.7201C>G (p.Leu2401Val) c.7135C>G (p.Leu2379Val) c.7198C>G (p.Leu2400Val) c.7195C>G (p.Leu2399Val) c.7141C>G (p.Leu2381Val) c.7111C>G (p.Leu2371Val) c.7066C>G (p.Leu2356Val) c.6661C>G (p.Leu2221Val) c.6019C>G (p.Leu2007Val) c.3529C>G (p.Leu1177Val) | gnomAD v4 |
10 | g.71798530C>T | CA470062114 | CDH23 | c.7006C>T (p.Leu2336=) c.939C>T (n.939C>T) c.603C>T (n.603C>T) c.7021C>T (p.Leu2341=) c.286C>T (p.Leu96=) n.542C>T c.7201C>T (p.Leu2401=) c.7135C>T (p.Leu2379=) c.7198C>T (p.Leu2400=) c.7195C>T (p.Leu2399=) c.7141C>T (p.Leu2381=) c.7111C>T (p.Leu2371=) c.7066C>T (p.Leu2356=) c.6661C>T (p.Leu2221=) c.6019C>T (p.Leu2007=) c.3529C>T (p.Leu1177=) | dbSNP |
10 | g.71798531T>A | CA377158294 | CDH23 | c.7007T>A (p.Leu2336Gln) c.940T>A (n.940T>A) c.604T>A (n.604T>A) c.7022T>A (p.Leu2341Gln) c.287T>A (p.Leu96Gln) n.543T>A c.7202T>A (p.Leu2401Gln) c.7136T>A (p.Leu2379Gln) c.7199T>A (p.Leu2400Gln) c.7196T>A (p.Leu2399Gln) c.7142T>A (p.Leu2381Gln) c.7112T>A (p.Leu2371Gln) c.7067T>A (p.Leu2356Gln) c.6662T>A (p.Leu2221Gln) c.6020T>A (p.Leu2007Gln) c.3530T>A (p.Leu1177Gln) | |
10 | g.71798531T>C | CA377158300 | CDH23 | c.7007T>C (p.Leu2336Pro) c.940T>C (n.940T>C) c.604T>C (n.604T>C) c.7022T>C (p.Leu2341Pro) c.287T>C (p.Leu96Pro) n.543T>C c.7202T>C (p.Leu2401Pro) c.7136T>C (p.Leu2379Pro) c.7199T>C (p.Leu2400Pro) c.7196T>C (p.Leu2399Pro) c.7142T>C (p.Leu2381Pro) c.7112T>C (p.Leu2371Pro) c.7067T>C (p.Leu2356Pro) c.6662T>C (p.Leu2221Pro) c.6020T>C (p.Leu2007Pro) c.3530T>C (p.Leu1177Pro) | dbSNP |
10 | g.71798531T>G | CA377158296 | CDH23 | c.7007T>G (p.Leu2336Arg) c.940T>G (n.940T>G) c.604T>G (n.604T>G) c.7022T>G (p.Leu2341Arg) c.287T>G (p.Leu96Arg) n.543T>G c.7202T>G (p.Leu2401Arg) c.7136T>G (p.Leu2379Arg) c.7199T>G (p.Leu2400Arg) c.7196T>G (p.Leu2399Arg) c.7142T>G (p.Leu2381Arg) c.7112T>G (p.Leu2371Arg) c.7067T>G (p.Leu2356Arg) c.6662T>G (p.Leu2221Arg) c.6020T>G (p.Leu2007Arg) c.3530T>G (p.Leu1177Arg) | |
10 | g.71798531T= | CA1918878490 | CDH23 | c.7007T= (p.Leu2336=) c.940T= (n.940T=) c.604T= (n.604T=) c.7022T= (p.Leu2341=) c.287T= (p.Leu96=) n.543T= c.7202T= (p.Leu2401=) c.7136T= (p.Leu2379=) c.7199T= (p.Leu2400=) c.7196T= (p.Leu2399=) c.7142T= (p.Leu2381=) c.7112T= (p.Leu2371=) c.7067T= (p.Leu2356=) c.6662T= (p.Leu2221=) c.6020T= (p.Leu2007=) c.3530T= (p.Leu1177=) | |
10 | g.71798532G>A | CA470062117 | CDH23 | c.7008G>A (p.Leu2336=) c.941G>A (n.941G>A) c.605G>A (n.605G>A) c.7023G>A (p.Leu2341=) c.288G>A (p.Leu96=) n.544G>A c.7203G>A (p.Leu2401=) c.7137G>A (p.Leu2379=) c.7200G>A (p.Leu2400=) c.7197G>A (p.Leu2399=) c.7143G>A (p.Leu2381=) c.7113G>A (p.Leu2371=) c.7068G>A (p.Leu2356=) c.6663G>A (p.Leu2221=) c.6021G>A (p.Leu2007=) c.3531G>A (p.Leu1177=) | |
10 | g.71798532G>C | CA470062119 | CDH23 | c.7008G>C (p.Leu2336=) c.941G>C (n.941G>C) c.605G>C (n.605G>C) c.7023G>C (p.Leu2341=) c.288G>C (p.Leu96=) n.544G>C c.7203G>C (p.Leu2401=) c.7137G>C (p.Leu2379=) c.7200G>C (p.Leu2400=) c.7197G>C (p.Leu2399=) c.7143G>C (p.Leu2381=) c.7113G>C (p.Leu2371=) c.7068G>C (p.Leu2356=) c.6663G>C (p.Leu2221=) c.6021G>C (p.Leu2007=) c.3531G>C (p.Leu1177=) | gnomAD v4 |
10 | g.71798532G>T | CA470062118 | CDH23 | c.7008G>T (p.Leu2336=) c.941G>T (n.941G>T) c.605G>T (n.605G>T) c.7023G>T (p.Leu2341=) c.288G>T (p.Leu96=) n.544G>T c.7203G>T (p.Leu2401=) c.7137G>T (p.Leu2379=) c.7200G>T (p.Leu2400=) c.7197G>T (p.Leu2399=) c.7143G>T (p.Leu2381=) c.7113G>T (p.Leu2371=) c.7068G>T (p.Leu2356=) c.6663G>T (p.Leu2221=) c.6021G>T (p.Leu2007=) c.3531G>T (p.Leu1177=) | COSMIC |
10 | g.71798533del | CA2722286378 | CDH23 | c.7009del (p.Asp2337ThrfsTer?) c.942del (n.942del) c.606del (n.606del) c.7024del (p.Asp2342ThrfsTer?) c.289del (p.Asp97ThrfsTer?) n.545del c.7204del (p.Asp2402ThrfsTer?) c.7138del (p.Asp2380ThrfsTer?) c.7201del (p.Asp2401ThrfsTer?) c.7198del (p.Asp2400ThrfsTer?) c.7144del (p.Asp2382ThrfsTer?) c.7114del (p.Asp2372ThrfsTer?) c.7069del (p.Asp2357ThrfsTer?) c.6664del (p.Asp2222ThrfsTer?) c.6022del (p.Asp2008ThrfsTer?) c.3532del (p.Asp1178ThrfsTer?) | dbSNP |
10 | g.71798533G>A | CA377158303 | CDH23 | c.7009G>A (p.Asp2337Asn) c.942G>A (n.942G>A) c.606G>A (n.606G>A) c.7024G>A (p.Asp2342Asn) c.289G>A (p.Asp97Asn) n.545G>A c.7204G>A (p.Asp2402Asn) c.7138G>A (p.Asp2380Asn) c.7201G>A (p.Asp2401Asn) c.7198G>A (p.Asp2400Asn) c.7144G>A (p.Asp2382Asn) c.7114G>A (p.Asp2372Asn) c.7069G>A (p.Asp2357Asn) c.6664G>A (p.Asp2222Asn) c.6022G>A (p.Asp2008Asn) c.3532G>A (p.Asp1178Asn) | |
10 | g.71798533G>C | CA377158305 | CDH23 | c.7009G>C (p.Asp2337His) c.942G>C (n.942G>C) c.606G>C (n.606G>C) c.7024G>C (p.Asp2342His) c.289G>C (p.Asp97His) n.545G>C c.7204G>C (p.Asp2402His) c.7138G>C (p.Asp2380His) c.7201G>C (p.Asp2401His) c.7198G>C (p.Asp2400His) c.7144G>C (p.Asp2382His) c.7114G>C (p.Asp2372His) c.7069G>C (p.Asp2357His) c.6664G>C (p.Asp2222His) c.6022G>C (p.Asp2008His) c.3532G>C (p.Asp1178His) | |
10 | g.71798533G= | CA1918878491 | CDH23 | c.7009G= (p.Asp2337=) c.942G= (n.942G=) c.606G= (n.606G=) c.7024G= (p.Asp2342=) c.289G= (p.Asp97=) n.545G= c.7204G= (p.Asp2402=) c.7138G= (p.Asp2380=) c.7201G= (p.Asp2401=) c.7198G= (p.Asp2400=) c.7144G= (p.Asp2382=) c.7114G= (p.Asp2372=) c.7069G= (p.Asp2357=) c.6664G= (p.Asp2222=) c.6022G= (p.Asp2008=) c.3532G= (p.Asp1178=) | |
10 | g.71798533G>T | CA377158308 | CDH23 | c.7009G>T (p.Asp2337Tyr) c.942G>T (n.942G>T) c.606G>T (n.606G>T) c.7024G>T (p.Asp2342Tyr) c.289G>T (p.Asp97Tyr) n.545G>T c.7204G>T (p.Asp2402Tyr) c.7138G>T (p.Asp2380Tyr) c.7201G>T (p.Asp2401Tyr) c.7198G>T (p.Asp2400Tyr) c.7144G>T (p.Asp2382Tyr) c.7114G>T (p.Asp2372Tyr) c.7069G>T (p.Asp2357Tyr) c.6664G>T (p.Asp2222Tyr) c.6022G>T (p.Asp2008Tyr) c.3532G>T (p.Asp1178Tyr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798534A>C | CA377158315 | CDH23 | c.7010A>C (p.Asp2337Ala) c.943A>C (n.943A>C) c.607A>C (n.607A>C) c.7025A>C (p.Asp2342Ala) c.290A>C (p.Asp97Ala) n.546A>C c.7205A>C (p.Asp2402Ala) c.7139A>C (p.Asp2380Ala) c.7202A>C (p.Asp2401Ala) c.7199A>C (p.Asp2400Ala) c.7145A>C (p.Asp2382Ala) c.7115A>C (p.Asp2372Ala) c.7070A>C (p.Asp2357Ala) c.6665A>C (p.Asp2222Ala) c.6023A>C (p.Asp2008Ala) c.3533A>C (p.Asp1178Ala) | |
10 | g.71798534A>G | CA377158316 | CDH23 | c.7010A>G (p.Asp2337Gly) c.943A>G (n.943A>G) c.607A>G (n.607A>G) c.7025A>G (p.Asp2342Gly) c.290A>G (p.Asp97Gly) n.546A>G c.7205A>G (p.Asp2402Gly) c.7139A>G (p.Asp2380Gly) c.7202A>G (p.Asp2401Gly) c.7199A>G (p.Asp2400Gly) c.7145A>G (p.Asp2382Gly) c.7115A>G (p.Asp2372Gly) c.7070A>G (p.Asp2357Gly) c.6665A>G (p.Asp2222Gly) c.6023A>G (p.Asp2008Gly) c.3533A>G (p.Asp1178Gly) | |
10 | g.71798534A>T | CA377158320 | CDH23 | c.7010A>T (p.Asp2337Val) c.943A>T (n.943A>T) c.607A>T (n.607A>T) c.7025A>T (p.Asp2342Val) c.290A>T (p.Asp97Val) n.546A>T c.7205A>T (p.Asp2402Val) c.7139A>T (p.Asp2380Val) c.7202A>T (p.Asp2401Val) c.7199A>T (p.Asp2400Val) c.7145A>T (p.Asp2382Val) c.7115A>T (p.Asp2372Val) c.7070A>T (p.Asp2357Val) c.6665A>T (p.Asp2222Val) c.6023A>T (p.Asp2008Val) c.3533A>T (p.Asp1178Val) | |
10 | g.71798535C>A | CA377158325 | CDH23 | c.7011C>A (p.Asp2337Glu) c.944C>A (n.944C>A) c.608C>A (n.608C>A) c.7026C>A (p.Asp2342Glu) c.291C>A (p.Asp97Glu) n.547C>A c.7206C>A (p.Asp2402Glu) c.7140C>A (p.Asp2380Glu) c.7203C>A (p.Asp2401Glu) c.7200C>A (p.Asp2400Glu) c.7146C>A (p.Asp2382Glu) c.7116C>A (p.Asp2372Glu) c.7071C>A (p.Asp2357Glu) c.6666C>A (p.Asp2222Glu) c.6024C>A (p.Asp2008Glu) c.3534C>A (p.Asp1178Glu) | |
10 | g.71798535C= | CA1918878492 | CDH23 | c.7011C= (p.Asp2337=) c.944C= (n.944C=) c.608C= (n.608C=) c.7026C= (p.Asp2342=) c.291C= (p.Asp97=) n.547C= c.7206C= (p.Asp2402=) c.7140C= (p.Asp2380=) c.7203C= (p.Asp2401=) c.7200C= (p.Asp2400=) c.7146C= (p.Asp2382=) c.7116C= (p.Asp2372=) c.7071C= (p.Asp2357=) c.6666C= (p.Asp2222=) c.6024C= (p.Asp2008=) c.3534C= (p.Asp1178=) | |
10 | g.71798535C>G | CA5546229 | CDH23 | c.7011C>G (p.Asp2337Glu) c.944C>G (n.944C>G) c.608C>G (n.608C>G) c.7026C>G (p.Asp2342Glu) c.291C>G (p.Asp97Glu) n.547C>G c.7206C>G (p.Asp2402Glu) c.7140C>G (p.Asp2380Glu) c.7203C>G (p.Asp2401Glu) c.7200C>G (p.Asp2400Glu) c.7146C>G (p.Asp2382Glu) c.7116C>G (p.Asp2372Glu) c.7071C>G (p.Asp2357Glu) c.6666C>G (p.Asp2222Glu) c.6024C>G (p.Asp2008Glu) c.3534C>G (p.Asp1178Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798535C>T | CA470062120 | CDH23 | c.7011C>T (p.Asp2337=) c.944C>T (n.944C>T) c.608C>T (n.608C>T) c.7026C>T (p.Asp2342=) c.291C>T (p.Asp97=) n.547C>T c.7206C>T (p.Asp2402=) c.7140C>T (p.Asp2380=) c.7203C>T (p.Asp2401=) c.7200C>T (p.Asp2400=) c.7146C>T (p.Asp2382=) c.7116C>T (p.Asp2372=) c.7071C>T (p.Asp2357=) c.6666C>T (p.Asp2222=) c.6024C>T (p.Asp2008=) c.3534C>T (p.Asp1178=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798536C>A | CA377158332 | CDH23 | c.7012C>A (p.Leu2338Met) c.945C>A (n.945C>A) c.609C>A (n.609C>A) c.7027C>A (p.Leu2343Met) c.292C>A (p.Leu98Met) n.548C>A c.7207C>A (p.Leu2403Met) c.7141C>A (p.Leu2381Met) c.7204C>A (p.Leu2402Met) c.7201C>A (p.Leu2401Met) c.7147C>A (p.Leu2383Met) c.7117C>A (p.Leu2373Met) c.7072C>A (p.Leu2358Met) c.6667C>A (p.Leu2223Met) c.6025C>A (p.Leu2009Met) c.3535C>A (p.Leu1179Met) | |
10 | g.71798536C>G | CA377158334 | CDH23 | c.7012C>G (p.Leu2338Val) c.945C>G (n.945C>G) c.609C>G (n.609C>G) c.7027C>G (p.Leu2343Val) c.292C>G (p.Leu98Val) n.548C>G c.7207C>G (p.Leu2403Val) c.7141C>G (p.Leu2381Val) c.7204C>G (p.Leu2402Val) c.7201C>G (p.Leu2401Val) c.7147C>G (p.Leu2383Val) c.7117C>G (p.Leu2373Val) c.7072C>G (p.Leu2358Val) c.6667C>G (p.Leu2223Val) c.6025C>G (p.Leu2009Val) c.3535C>G (p.Leu1179Val) | |
10 | g.71798536C>T | CA470062121 | CDH23 | c.7012C>T (p.Leu2338=) c.945C>T (n.945C>T) c.609C>T (n.609C>T) c.7027C>T (p.Leu2343=) c.292C>T (p.Leu98=) n.548C>T c.7207C>T (p.Leu2403=) c.7141C>T (p.Leu2381=) c.7204C>T (p.Leu2402=) c.7201C>T (p.Leu2401=) c.7147C>T (p.Leu2383=) c.7117C>T (p.Leu2373=) c.7072C>T (p.Leu2358=) c.6667C>T (p.Leu2223=) c.6025C>T (p.Leu2009=) c.3535C>T (p.Leu1179=) | |
10 | g.71798537T>A | CA377158336 | CDH23 | c.7013T>A (p.Leu2338Gln) c.946T>A (n.946T>A) c.610T>A (n.610T>A) c.7028T>A (p.Leu2343Gln) c.293T>A (p.Leu98Gln) n.549T>A c.7208T>A (p.Leu2403Gln) c.7142T>A (p.Leu2381Gln) c.7205T>A (p.Leu2402Gln) c.7202T>A (p.Leu2401Gln) c.7148T>A (p.Leu2383Gln) c.7118T>A (p.Leu2373Gln) c.7073T>A (p.Leu2358Gln) c.6668T>A (p.Leu2223Gln) c.6026T>A (p.Leu2009Gln) c.3536T>A (p.Leu1179Gln) | |
10 | g.71798537T>C | CA377158337 | CDH23 | c.7013T>C (p.Leu2338Pro) c.946T>C (n.946T>C) c.610T>C (n.610T>C) c.7028T>C (p.Leu2343Pro) c.293T>C (p.Leu98Pro) n.549T>C c.7208T>C (p.Leu2403Pro) c.7142T>C (p.Leu2381Pro) c.7205T>C (p.Leu2402Pro) c.7202T>C (p.Leu2401Pro) c.7148T>C (p.Leu2383Pro) c.7118T>C (p.Leu2373Pro) c.7073T>C (p.Leu2358Pro) c.6668T>C (p.Leu2223Pro) c.6026T>C (p.Leu2009Pro) c.3536T>C (p.Leu1179Pro) | |
10 | g.71798537T>G | CA377158339 | CDH23 | c.7013T>G (p.Leu2338Arg) c.946T>G (n.946T>G) c.610T>G (n.610T>G) c.7028T>G (p.Leu2343Arg) c.293T>G (p.Leu98Arg) n.549T>G c.7208T>G (p.Leu2403Arg) c.7142T>G (p.Leu2381Arg) c.7205T>G (p.Leu2402Arg) c.7202T>G (p.Leu2401Arg) c.7148T>G (p.Leu2383Arg) c.7118T>G (p.Leu2373Arg) c.7073T>G (p.Leu2358Arg) c.6668T>G (p.Leu2223Arg) c.6026T>G (p.Leu2009Arg) c.3536T>G (p.Leu1179Arg) | |
10 | g.71798538G>A | CA470062123 | CDH23 | c.7014G>A (p.Leu2338=) c.947G>A (n.947G>A) c.611G>A (n.611G>A) c.7029G>A (p.Leu2343=) c.294G>A (p.Leu98=) n.550G>A c.7209G>A (p.Leu2403=) c.7143G>A (p.Leu2381=) c.7206G>A (p.Leu2402=) c.7203G>A (p.Leu2401=) c.7149G>A (p.Leu2383=) c.7119G>A (p.Leu2373=) c.7074G>A (p.Leu2358=) c.6669G>A (p.Leu2223=) c.6027G>A (p.Leu2009=) c.3537G>A (p.Leu1179=) | ClinVar |
10 | g.71798538G>C | CA470062124 | CDH23 | c.7014G>C (p.Leu2338=) c.947G>C (n.947G>C) c.611G>C (n.611G>C) c.7029G>C (p.Leu2343=) c.294G>C (p.Leu98=) n.550G>C c.7209G>C (p.Leu2403=) c.7143G>C (p.Leu2381=) c.7206G>C (p.Leu2402=) c.7203G>C (p.Leu2401=) c.7149G>C (p.Leu2383=) c.7119G>C (p.Leu2373=) c.7074G>C (p.Leu2358=) c.6669G>C (p.Leu2223=) c.6027G>C (p.Leu2009=) c.3537G>C (p.Leu1179=) | |
10 | g.71798538G>T | CA470062125 | CDH23 | c.7014G>T (p.Leu2338=) c.947G>T (n.947G>T) c.611G>T (n.611G>T) c.7029G>T (p.Leu2343=) c.294G>T (p.Leu98=) n.550G>T c.7209G>T (p.Leu2403=) c.7143G>T (p.Leu2381=) c.7206G>T (p.Leu2402=) c.7203G>T (p.Leu2401=) c.7149G>T (p.Leu2383=) c.7119G>T (p.Leu2373=) c.7074G>T (p.Leu2358=) c.6669G>T (p.Leu2223=) c.6027G>T (p.Leu2009=) c.3537G>T (p.Leu1179=) | ClinVar dbSNP |
10 | g.71798539G>A | CA377158343 | CDH23 | c.7015G>A (p.Val2339Met) c.948G>A (n.948G>A) c.612G>A (n.612G>A) c.7030G>A (p.Val2344Met) c.295G>A (p.Val99Met) n.551G>A c.7210G>A (p.Val2404Met) c.7144G>A (p.Val2382Met) c.7207G>A (p.Val2403Met) c.7204G>A (p.Val2402Met) c.7150G>A (p.Val2384Met) c.7120G>A (p.Val2374Met) c.7075G>A (p.Val2359Met) c.6670G>A (p.Val2224Met) c.6028G>A (p.Val2010Met) c.3538G>A (p.Val1180Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798539G>C | CA377158345 | CDH23 | c.7015G>C (p.Val2339Leu) c.948G>C (n.948G>C) c.612G>C (n.612G>C) c.7030G>C (p.Val2344Leu) c.295G>C (p.Val99Leu) n.551G>C c.7210G>C (p.Val2404Leu) c.7144G>C (p.Val2382Leu) c.7207G>C (p.Val2403Leu) c.7204G>C (p.Val2402Leu) c.7150G>C (p.Val2384Leu) c.7120G>C (p.Val2374Leu) c.7075G>C (p.Val2359Leu) c.6670G>C (p.Val2224Leu) c.6028G>C (p.Val2010Leu) c.3538G>C (p.Val1180Leu) | |
10 | g.71798539G= | CA1918878493 | CDH23 | c.7015G= (p.Val2339=) c.948G= (n.948G=) c.612G= (n.612G=) c.7030G= (p.Val2344=) c.295G= (p.Val99=) n.551G= c.7210G= (p.Val2404=) c.7144G= (p.Val2382=) c.7207G= (p.Val2403=) c.7204G= (p.Val2402=) c.7150G= (p.Val2384=) c.7120G= (p.Val2374=) c.7075G= (p.Val2359=) c.6670G= (p.Val2224=) c.6028G= (p.Val2010=) c.3538G= (p.Val1180=) | |
10 | g.71798539G>T | CA377158352 | CDH23 | c.7015G>T (p.Val2339Leu) c.948G>T (n.948G>T) c.612G>T (n.612G>T) c.7030G>T (p.Val2344Leu) c.295G>T (p.Val99Leu) n.551G>T c.7210G>T (p.Val2404Leu) c.7144G>T (p.Val2382Leu) c.7207G>T (p.Val2403Leu) c.7204G>T (p.Val2402Leu) c.7150G>T (p.Val2384Leu) c.7120G>T (p.Val2374Leu) c.7075G>T (p.Val2359Leu) c.6670G>T (p.Val2224Leu) c.6028G>T (p.Val2010Leu) c.3538G>T (p.Val1180Leu) | |
10 | g.71798540T>A | CA377158355 | CDH23 | c.7016T>A (p.Val2339Glu) c.949T>A (n.949T>A) c.613T>A (n.613T>A) c.7031T>A (p.Val2344Glu) c.296T>A (p.Val99Glu) n.552T>A c.7211T>A (p.Val2404Glu) c.7145T>A (p.Val2382Glu) c.7208T>A (p.Val2403Glu) c.7205T>A (p.Val2402Glu) c.7151T>A (p.Val2384Glu) c.7121T>A (p.Val2374Glu) c.7076T>A (p.Val2359Glu) c.6671T>A (p.Val2224Glu) c.6029T>A (p.Val2010Glu) c.3539T>A (p.Val1180Glu) | |
10 | g.71798540T>C | CA377158360 | CDH23 | c.7016T>C (p.Val2339Ala) c.949T>C (n.949T>C) c.613T>C (n.613T>C) c.7031T>C (p.Val2344Ala) c.296T>C (p.Val99Ala) n.552T>C c.7211T>C (p.Val2404Ala) c.7145T>C (p.Val2382Ala) c.7208T>C (p.Val2403Ala) c.7205T>C (p.Val2402Ala) c.7151T>C (p.Val2384Ala) c.7121T>C (p.Val2374Ala) c.7076T>C (p.Val2359Ala) c.6671T>C (p.Val2224Ala) c.6029T>C (p.Val2010Ala) c.3539T>C (p.Val1180Ala) | gnomAD v4 |
10 | g.71798540T>G | CA377158357 | CDH23 | c.7016T>G (p.Val2339Gly) c.949T>G (n.949T>G) c.613T>G (n.613T>G) c.7031T>G (p.Val2344Gly) c.296T>G (p.Val99Gly) n.552T>G c.7211T>G (p.Val2404Gly) c.7145T>G (p.Val2382Gly) c.7208T>G (p.Val2403Gly) c.7205T>G (p.Val2402Gly) c.7151T>G (p.Val2384Gly) c.7121T>G (p.Val2374Gly) c.7076T>G (p.Val2359Gly) c.6671T>G (p.Val2224Gly) c.6029T>G (p.Val2010Gly) c.3539T>G (p.Val1180Gly) | |
10 | g.71798541G>A | CA470062128 | CDH23 | c.7017G>A (p.Val2339=) c.950G>A (n.950G>A) c.614G>A (n.614G>A) c.7032G>A (p.Val2344=) c.297G>A (p.Val99=) n.553G>A c.7212G>A (p.Val2404=) c.7146G>A (p.Val2382=) c.7209G>A (p.Val2403=) c.7206G>A (p.Val2402=) c.7152G>A (p.Val2384=) c.7122G>A (p.Val2374=) c.7077G>A (p.Val2359=) c.6672G>A (p.Val2224=) c.6030G>A (p.Val2010=) c.3540G>A (p.Val1180=) | ClinVar |
10 | g.71798541G>C | CA470062129 | CDH23 | c.7017G>C (p.Val2339=) c.950G>C (n.950G>C) c.614G>C (n.614G>C) c.7032G>C (p.Val2344=) c.297G>C (p.Val99=) n.553G>C c.7212G>C (p.Val2404=) c.7146G>C (p.Val2382=) c.7209G>C (p.Val2403=) c.7206G>C (p.Val2402=) c.7152G>C (p.Val2384=) c.7122G>C (p.Val2374=) c.7077G>C (p.Val2359=) c.6672G>C (p.Val2224=) c.6030G>C (p.Val2010=) c.3540G>C (p.Val1180=) | |
10 | g.71798541G>T | CA470062131 | CDH23 | c.7017G>T (p.Val2339=) c.950G>T (n.950G>T) c.614G>T (n.614G>T) c.7032G>T (p.Val2344=) c.297G>T (p.Val99=) n.553G>T c.7212G>T (p.Val2404=) c.7146G>T (p.Val2382=) c.7209G>T (p.Val2403=) c.7206G>T (p.Val2402=) c.7152G>T (p.Val2384=) c.7122G>T (p.Val2374=) c.7077G>T (p.Val2359=) c.6672G>T (p.Val2224=) c.6030G>T (p.Val2010=) c.3540G>T (p.Val1180=) | |
10 | g.71798542C>A | CA377158363 | CDH23 | c.7018C>A (p.Pro2340Thr) c.951C>A (n.951C>A) c.615C>A (n.615C>A) c.7033C>A (p.Pro2345Thr) c.298C>A (p.Pro100Thr) n.554C>A c.7213C>A (p.Pro2405Thr) c.7147C>A (p.Pro2383Thr) c.7210C>A (p.Pro2404Thr) c.7207C>A (p.Pro2403Thr) c.7153C>A (p.Pro2385Thr) c.7123C>A (p.Pro2375Thr) c.7078C>A (p.Pro2360Thr) c.6673C>A (p.Pro2225Thr) c.6031C>A (p.Pro2011Thr) c.3541C>A (p.Pro1181Thr) | |
10 | g.71798542C= | CA1918878494 | CDH23 | c.7018C= (p.Pro2340=) c.951C= (n.951C=) c.615C= (n.615C=) c.7033C= (p.Pro2345=) c.298C= (p.Pro100=) n.554C= c.7213C= (p.Pro2405=) c.7147C= (p.Pro2383=) c.7210C= (p.Pro2404=) c.7207C= (p.Pro2403=) c.7153C= (p.Pro2385=) c.7123C= (p.Pro2375=) c.7078C= (p.Pro2360=) c.6673C= (p.Pro2225=) c.6031C= (p.Pro2011=) c.3541C= (p.Pro1181=) | |
10 | g.71798542C>G | CA377158367 | CDH23 | c.7018C>G (p.Pro2340Ala) c.951C>G (n.951C>G) c.615C>G (n.615C>G) c.7033C>G (p.Pro2345Ala) c.298C>G (p.Pro100Ala) n.554C>G c.7213C>G (p.Pro2405Ala) c.7147C>G (p.Pro2383Ala) c.7210C>G (p.Pro2404Ala) c.7207C>G (p.Pro2403Ala) c.7153C>G (p.Pro2385Ala) c.7123C>G (p.Pro2375Ala) c.7078C>G (p.Pro2360Ala) c.6673C>G (p.Pro2225Ala) c.6031C>G (p.Pro2011Ala) c.3541C>G (p.Pro1181Ala) | |
10 | g.71798542C>T | CA377158371 | CDH23 | c.7018C>T (p.Pro2340Ser) c.951C>T (n.951C>T) c.615C>T (n.615C>T) c.7033C>T (p.Pro2345Ser) c.298C>T (p.Pro100Ser) n.554C>T c.7213C>T (p.Pro2405Ser) c.7147C>T (p.Pro2383Ser) c.7210C>T (p.Pro2404Ser) c.7207C>T (p.Pro2403Ser) c.7153C>T (p.Pro2385Ser) c.7123C>T (p.Pro2375Ser) c.7078C>T (p.Pro2360Ser) c.6673C>T (p.Pro2225Ser) c.6031C>T (p.Pro2011Ser) c.3541C>T (p.Pro1181Ser) | dbSNP |
10 | g.71798546dup | CA2580081853 | CDH23 | c.7022dup (p.Gly2342ArgfsTer?) c.955dup (n.955dup) c.619dup (n.619dup) c.7037dup (p.Gly2347ArgfsTer?) c.302dup (p.Gly102ArgfsTer?) n.558dup c.7217dup (p.Gly2407ArgfsTer?) c.7151dup (p.Gly2385ArgfsTer?) c.7214dup (p.Gly2406ArgfsTer?) c.7211dup (p.Gly2405ArgfsTer?) c.7157dup (p.Gly2387ArgfsTer?) c.7127dup (p.Gly2377ArgfsTer?) c.7082dup (p.Gly2362ArgfsTer?) c.6677dup (p.Gly2227ArgfsTer?) c.6035dup (p.Gly2013ArgfsTer?) c.3545dup (p.Gly1183ArgfsTer?) | ClinVar |
10 | g.71798546del | CA2574455542 | CDH23 | c.7022del (p.Pro2341GlnfsTer?) c.955del (n.955del) c.619del (n.619del) c.7037del (p.Pro2346GlnfsTer?) c.302del (p.Pro101GlnfsTer?) n.558del c.7217del (p.Pro2406GlnfsTer?) c.7151del (p.Pro2384GlnfsTer?) c.7214del (p.Pro2405GlnfsTer?) c.7211del (p.Pro2404GlnfsTer?) c.7157del (p.Pro2386GlnfsTer?) c.7127del (p.Pro2376GlnfsTer?) c.7082del (p.Pro2361GlnfsTer?) c.6677del (p.Pro2226GlnfsTer?) c.6035del (p.Pro2012GlnfsTer?) c.3545del (p.Pro1182GlnfsTer?) | ClinVar dbSNP |
10 | g.71798543C>A | CA377158374 | CDH23 | c.7019C>A (p.Pro2340His) c.952C>A (n.952C>A) c.616C>A (n.616C>A) c.7034C>A (p.Pro2345His) c.299C>A (p.Pro100His) n.555C>A c.7214C>A (p.Pro2405His) c.7148C>A (p.Pro2383His) c.7211C>A (p.Pro2404His) c.7208C>A (p.Pro2403His) c.7154C>A (p.Pro2385His) c.7124C>A (p.Pro2375His) c.7079C>A (p.Pro2360His) c.6674C>A (p.Pro2225His) c.6032C>A (p.Pro2011His) c.3542C>A (p.Pro1181His) | |
10 | g.71798543C= | CA1918878495 | CDH23 | c.7019C= (p.Pro2340=) c.952C= (n.952C=) c.616C= (n.616C=) c.7034C= (p.Pro2345=) c.299C= (p.Pro100=) n.555C= c.7214C= (p.Pro2405=) c.7148C= (p.Pro2383=) c.7211C= (p.Pro2404=) c.7208C= (p.Pro2403=) c.7154C= (p.Pro2385=) c.7124C= (p.Pro2375=) c.7079C= (p.Pro2360=) c.6674C= (p.Pro2225=) c.6032C= (p.Pro2011=) c.3542C= (p.Pro1181=) | |
10 | g.71798543C>G | CA377158383 | CDH23 | c.7019C>G (p.Pro2340Arg) c.952C>G (n.952C>G) c.616C>G (n.616C>G) c.7034C>G (p.Pro2345Arg) c.299C>G (p.Pro100Arg) n.555C>G c.7214C>G (p.Pro2405Arg) c.7148C>G (p.Pro2383Arg) c.7211C>G (p.Pro2404Arg) c.7208C>G (p.Pro2403Arg) c.7154C>G (p.Pro2385Arg) c.7124C>G (p.Pro2375Arg) c.7079C>G (p.Pro2360Arg) c.6674C>G (p.Pro2225Arg) c.6032C>G (p.Pro2011Arg) c.3542C>G (p.Pro1181Arg) | |
10 | g.71798543C>T | CA377158388 | CDH23 | c.7019C>T (p.Pro2340Leu) c.952C>T (n.952C>T) c.616C>T (n.616C>T) c.7034C>T (p.Pro2345Leu) c.299C>T (p.Pro100Leu) n.555C>T c.7214C>T (p.Pro2405Leu) c.7148C>T (p.Pro2383Leu) c.7211C>T (p.Pro2404Leu) c.7208C>T (p.Pro2403Leu) c.7154C>T (p.Pro2385Leu) c.7124C>T (p.Pro2375Leu) c.7079C>T (p.Pro2360Leu) c.6674C>T (p.Pro2225Leu) c.6032C>T (p.Pro2011Leu) c.3542C>T (p.Pro1181Leu) | dbSNP |
10 | g.71798544C>A | CA470062132 | CDH23 | c.7020C>A (p.Pro2340=) c.953C>A (n.953C>A) c.617C>A (n.617C>A) c.7035C>A (p.Pro2345=) c.300C>A (p.Pro100=) n.556C>A c.7215C>A (p.Pro2405=) c.7149C>A (p.Pro2383=) c.7212C>A (p.Pro2404=) c.7209C>A (p.Pro2403=) c.7155C>A (p.Pro2385=) c.7125C>A (p.Pro2375=) c.7080C>A (p.Pro2360=) c.6675C>A (p.Pro2225=) c.6033C>A (p.Pro2011=) c.3543C>A (p.Pro1181=) | gnomAD v4 |
10 | g.71798544C>G | CA470062134 | CDH23 | c.7020C>G (p.Pro2340=) c.953C>G (n.953C>G) c.617C>G (n.617C>G) c.7035C>G (p.Pro2345=) c.300C>G (p.Pro100=) n.556C>G c.7215C>G (p.Pro2405=) c.7149C>G (p.Pro2383=) c.7212C>G (p.Pro2404=) c.7209C>G (p.Pro2403=) c.7155C>G (p.Pro2385=) c.7125C>G (p.Pro2375=) c.7080C>G (p.Pro2360=) c.6675C>G (p.Pro2225=) c.6033C>G (p.Pro2011=) c.3543C>G (p.Pro1181=) | |
10 | g.71798544C>T | CA470062133 | CDH23 | c.7020C>T (p.Pro2340=) c.953C>T (n.953C>T) c.617C>T (n.617C>T) c.7035C>T (p.Pro2345=) c.300C>T (p.Pro100=) n.556C>T c.7215C>T (p.Pro2405=) c.7149C>T (p.Pro2383=) c.7212C>T (p.Pro2404=) c.7209C>T (p.Pro2403=) c.7155C>T (p.Pro2385=) c.7125C>T (p.Pro2375=) c.7080C>T (p.Pro2360=) c.6675C>T (p.Pro2225=) c.6033C>T (p.Pro2011=) c.3543C>T (p.Pro1181=) | ClinVar |
10 | g.71798545C>A | CA377158390 | CDH23 | c.7021C>A (p.Pro2341Thr) c.954C>A (n.954C>A) c.618C>A (n.618C>A) c.7036C>A (p.Pro2346Thr) c.301C>A (p.Pro101Thr) n.557C>A c.7216C>A (p.Pro2406Thr) c.7150C>A (p.Pro2384Thr) c.7213C>A (p.Pro2405Thr) c.7210C>A (p.Pro2404Thr) c.7156C>A (p.Pro2386Thr) c.7126C>A (p.Pro2376Thr) c.7081C>A (p.Pro2361Thr) c.6676C>A (p.Pro2226Thr) c.6034C>A (p.Pro2012Thr) c.3544C>A (p.Pro1182Thr) | |
10 | g.71798545C= | CA1918878496 | CDH23 | c.7021C= (p.Pro2341=) c.954C= (n.954C=) c.618C= (n.618C=) c.7036C= (p.Pro2346=) c.301C= (p.Pro101=) n.557C= c.7216C= (p.Pro2406=) c.7150C= (p.Pro2384=) c.7213C= (p.Pro2405=) c.7210C= (p.Pro2404=) c.7156C= (p.Pro2386=) c.7126C= (p.Pro2376=) c.7081C= (p.Pro2361=) c.6676C= (p.Pro2226=) c.6034C= (p.Pro2012=) c.3544C= (p.Pro1182=) | |
10 | g.71798545C>G | CA377158393 | CDH23 | c.7021C>G (p.Pro2341Ala) c.954C>G (n.954C>G) c.618C>G (n.618C>G) c.7036C>G (p.Pro2346Ala) c.301C>G (p.Pro101Ala) n.557C>G c.7216C>G (p.Pro2406Ala) c.7150C>G (p.Pro2384Ala) c.7213C>G (p.Pro2405Ala) c.7210C>G (p.Pro2404Ala) c.7156C>G (p.Pro2386Ala) c.7126C>G (p.Pro2376Ala) c.7081C>G (p.Pro2361Ala) c.6676C>G (p.Pro2226Ala) c.6034C>G (p.Pro2012Ala) c.3544C>G (p.Pro1182Ala) | gnomAD v4 |
10 | g.71798545C>T | CA377158396 | CDH23 | c.7021C>T (p.Pro2341Ser) c.954C>T (n.954C>T) c.618C>T (n.618C>T) c.7036C>T (p.Pro2346Ser) c.301C>T (p.Pro101Ser) n.557C>T c.7216C>T (p.Pro2406Ser) c.7150C>T (p.Pro2384Ser) c.7213C>T (p.Pro2405Ser) c.7210C>T (p.Pro2404Ser) c.7156C>T (p.Pro2386Ser) c.7126C>T (p.Pro2376Ser) c.7081C>T (p.Pro2361Ser) c.6676C>T (p.Pro2226Ser) c.6034C>T (p.Pro2012Ser) c.3544C>T (p.Pro1182Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798546C>A | CA377158408 | CDH23 | c.7022C>A (p.Pro2341Gln) c.955C>A (n.955C>A) c.619C>A (n.619C>A) c.7037C>A (p.Pro2346Gln) c.302C>A (p.Pro101Gln) n.558C>A c.7217C>A (p.Pro2406Gln) c.7151C>A (p.Pro2384Gln) c.7214C>A (p.Pro2405Gln) c.7211C>A (p.Pro2404Gln) c.7157C>A (p.Pro2386Gln) c.7127C>A (p.Pro2376Gln) c.7082C>A (p.Pro2361Gln) c.6677C>A (p.Pro2226Gln) c.6035C>A (p.Pro2012Gln) c.3545C>A (p.Pro1182Gln) | |
10 | g.71798546C= | CA1918878497 | CDH23 | c.7022C= (p.Pro2341=) c.955C= (n.955C=) c.619C= (n.619C=) c.7037C= (p.Pro2346=) c.302C= (p.Pro101=) n.558C= c.7217C= (p.Pro2406=) c.7151C= (p.Pro2384=) c.7214C= (p.Pro2405=) c.7211C= (p.Pro2404=) c.7157C= (p.Pro2386=) c.7127C= (p.Pro2376=) c.7082C= (p.Pro2361=) c.6677C= (p.Pro2226=) c.6035C= (p.Pro2012=) c.3545C= (p.Pro1182=) | |
10 | g.71798546C>G | CA377158411 | CDH23 | c.7022C>G (p.Pro2341Arg) c.955C>G (n.955C>G) c.619C>G (n.619C>G) c.7037C>G (p.Pro2346Arg) c.302C>G (p.Pro101Arg) n.558C>G c.7217C>G (p.Pro2406Arg) c.7151C>G (p.Pro2384Arg) c.7214C>G (p.Pro2405Arg) c.7211C>G (p.Pro2404Arg) c.7157C>G (p.Pro2386Arg) c.7127C>G (p.Pro2376Arg) c.7082C>G (p.Pro2361Arg) c.6677C>G (p.Pro2226Arg) c.6035C>G (p.Pro2012Arg) c.3545C>G (p.Pro1182Arg) | ClinVar dbSNP gnomAD v4 |
10 | g.71798546C>T | CA377158414 | CDH23 | c.7022C>T (p.Pro2341Leu) c.955C>T (n.955C>T) c.619C>T (n.619C>T) c.7037C>T (p.Pro2346Leu) c.302C>T (p.Pro101Leu) n.558C>T c.7217C>T (p.Pro2406Leu) c.7151C>T (p.Pro2384Leu) c.7214C>T (p.Pro2405Leu) c.7211C>T (p.Pro2404Leu) c.7157C>T (p.Pro2386Leu) c.7127C>T (p.Pro2376Leu) c.7082C>T (p.Pro2361Leu) c.6677C>T (p.Pro2226Leu) c.6035C>T (p.Pro2012Leu) c.3545C>T (p.Pro1182Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798547A>C | CA470062137 | CDH23 | c.7023A>C (p.Pro2341=) c.956A>C (n.956A>C) c.620A>C (n.620A>C) c.7038A>C (p.Pro2346=) c.303A>C (p.Pro101=) n.559A>C c.7218A>C (p.Pro2406=) c.7152A>C (p.Pro2384=) c.7215A>C (p.Pro2405=) c.7212A>C (p.Pro2404=) c.7158A>C (p.Pro2386=) c.7128A>C (p.Pro2376=) c.7083A>C (p.Pro2361=) c.6678A>C (p.Pro2226=) c.6036A>C (p.Pro2012=) c.3546A>C (p.Pro1182=) | |
10 | g.71798547A>G | CA470062138 | CDH23 | c.7023A>G (p.Pro2341=) c.956A>G (n.956A>G) c.620A>G (n.620A>G) c.7038A>G (p.Pro2346=) c.303A>G (p.Pro101=) n.559A>G c.7218A>G (p.Pro2406=) c.7152A>G (p.Pro2384=) c.7215A>G (p.Pro2405=) c.7212A>G (p.Pro2404=) c.7158A>G (p.Pro2386=) c.7128A>G (p.Pro2376=) c.7083A>G (p.Pro2361=) c.6678A>G (p.Pro2226=) c.6036A>G (p.Pro2012=) c.3546A>G (p.Pro1182=) | ClinVar |
10 | g.71798547A>T | CA470062139 | CDH23 | c.7023A>T (p.Pro2341=) c.956A>T (n.956A>T) c.620A>T (n.620A>T) c.7038A>T (p.Pro2346=) c.303A>T (p.Pro101=) n.559A>T c.7218A>T (p.Pro2406=) c.7152A>T (p.Pro2384=) c.7215A>T (p.Pro2405=) c.7212A>T (p.Pro2404=) c.7158A>T (p.Pro2386=) c.7128A>T (p.Pro2376=) c.7083A>T (p.Pro2361=) c.6678A>T (p.Pro2226=) c.6036A>T (p.Pro2012=) c.3546A>T (p.Pro1182=) | |
10 | g.71798548G>A | CA377158417 | CDH23 | c.7024G>A (p.Gly2342Arg) c.957G>A (n.957G>A) c.621G>A (n.621G>A) c.7039G>A (p.Gly2347Arg) c.304G>A (p.Gly102Arg) n.560G>A c.7219G>A (p.Gly2407Arg) c.7153G>A (p.Gly2385Arg) c.7216G>A (p.Gly2406Arg) c.7213G>A (p.Gly2405Arg) c.7159G>A (p.Gly2387Arg) c.7129G>A (p.Gly2377Arg) c.7084G>A (p.Gly2362Arg) c.6679G>A (p.Gly2227Arg) c.6037G>A (p.Gly2013Arg) c.3547G>A (p.Gly1183Arg) | dbSNP |
10 | g.71798548G>C | CA5546230 | CDH23 | c.7024G>C (p.Gly2342Arg) c.957G>C (n.957G>C) c.621G>C (n.621G>C) c.7039G>C (p.Gly2347Arg) c.304G>C (p.Gly102Arg) n.560G>C c.7219G>C (p.Gly2407Arg) c.7153G>C (p.Gly2385Arg) c.7216G>C (p.Gly2406Arg) c.7213G>C (p.Gly2405Arg) c.7159G>C (p.Gly2387Arg) c.7129G>C (p.Gly2377Arg) c.7084G>C (p.Gly2362Arg) c.6679G>C (p.Gly2227Arg) c.6037G>C (p.Gly2013Arg) c.3547G>C (p.Gly1183Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798548G= | CA1918878498 | CDH23 | c.7024G= (p.Gly2342=) c.957G= (n.957G=) c.621G= (n.621G=) c.7039G= (p.Gly2347=) c.304G= (p.Gly102=) n.560G= c.7219G= (p.Gly2407=) c.7153G= (p.Gly2385=) c.7216G= (p.Gly2406=) c.7213G= (p.Gly2405=) c.7159G= (p.Gly2387=) c.7129G= (p.Gly2377=) c.7084G= (p.Gly2362=) c.6679G= (p.Gly2227=) c.6037G= (p.Gly2013=) c.3547G= (p.Gly1183=) | |
10 | g.71798548G>T | CA377158420 | CDH23 | c.7024G>T (p.Gly2342Trp) c.957G>T (n.957G>T) c.621G>T (n.621G>T) c.7039G>T (p.Gly2347Trp) c.304G>T (p.Gly102Trp) n.560G>T c.7219G>T (p.Gly2407Trp) c.7153G>T (p.Gly2385Trp) c.7216G>T (p.Gly2406Trp) c.7213G>T (p.Gly2405Trp) c.7159G>T (p.Gly2387Trp) c.7129G>T (p.Gly2377Trp) c.7084G>T (p.Gly2362Trp) c.6679G>T (p.Gly2227Trp) c.6037G>T (p.Gly2013Trp) c.3547G>T (p.Gly1183Trp) | |
10 | g.71798550del | CA2695212111 | CDH23 | c.7026del (p.Tyr2343MetfsTer?) c.959del (n.959del) c.623del (n.623del) c.7041del (p.Tyr2348MetfsTer?) c.306del (p.Tyr103MetfsTer?) n.562del c.7221del (p.Tyr2408MetfsTer?) c.7155del (p.Tyr2386MetfsTer?) c.7218del (p.Tyr2407MetfsTer?) c.7215del (p.Tyr2406MetfsTer?) c.7161del (p.Tyr2388MetfsTer?) c.7131del (p.Tyr2378MetfsTer?) c.7086del (p.Tyr2363MetfsTer?) c.6681del (p.Tyr2228MetfsTer?) c.6039del (p.Tyr2014MetfsTer?) c.3549del (p.Tyr1184MetfsTer?) | |
10 | g.71798549G>A | CA377158426 | CDH23 | c.7025G>A (p.Gly2342Glu) c.958G>A (n.958G>A) c.622G>A (n.622G>A) c.7040G>A (p.Gly2347Glu) c.305G>A (p.Gly102Glu) n.561G>A c.7220G>A (p.Gly2407Glu) c.7154G>A (p.Gly2385Glu) c.7217G>A (p.Gly2406Glu) c.7214G>A (p.Gly2405Glu) c.7160G>A (p.Gly2387Glu) c.7130G>A (p.Gly2377Glu) c.7085G>A (p.Gly2362Glu) c.6680G>A (p.Gly2227Glu) c.6038G>A (p.Gly2013Glu) c.3548G>A (p.Gly1183Glu) | gnomAD v4 |
10 | g.71798549G>C | CA5546231 | CDH23 | c.7025G>C (p.Gly2342Ala) c.958G>C (n.958G>C) c.622G>C (n.622G>C) c.7040G>C (p.Gly2347Ala) c.305G>C (p.Gly102Ala) n.561G>C c.7220G>C (p.Gly2407Ala) c.7154G>C (p.Gly2385Ala) c.7217G>C (p.Gly2406Ala) c.7214G>C (p.Gly2405Ala) c.7160G>C (p.Gly2387Ala) c.7130G>C (p.Gly2377Ala) c.7085G>C (p.Gly2362Ala) c.6680G>C (p.Gly2227Ala) c.6038G>C (p.Gly2013Ala) c.3548G>C (p.Gly1183Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798549G= | CA1918878499 | CDH23 | c.7025G= (p.Gly2342=) c.958G= (n.958G=) c.622G= (n.622G=) c.7040G= (p.Gly2347=) c.305G= (p.Gly102=) n.561G= c.7220G= (p.Gly2407=) c.7154G= (p.Gly2385=) c.7217G= (p.Gly2406=) c.7214G= (p.Gly2405=) c.7160G= (p.Gly2387=) c.7130G= (p.Gly2377=) c.7085G= (p.Gly2362=) c.6680G= (p.Gly2227=) c.6038G= (p.Gly2013=) c.3548G= (p.Gly1183=) | |
10 | g.71798549G>T | CA377158432 | CDH23 | c.7025G>T (p.Gly2342Val) c.958G>T (n.958G>T) c.622G>T (n.622G>T) c.7040G>T (p.Gly2347Val) c.305G>T (p.Gly102Val) n.561G>T c.7220G>T (p.Gly2407Val) c.7154G>T (p.Gly2385Val) c.7217G>T (p.Gly2406Val) c.7214G>T (p.Gly2405Val) c.7160G>T (p.Gly2387Val) c.7130G>T (p.Gly2377Val) c.7085G>T (p.Gly2362Val) c.6680G>T (p.Gly2227Val) c.6038G>T (p.Gly2013Val) c.3548G>T (p.Gly1183Val) | |
10 | g.71798550G>A | CA5546233 | CDH23 | c.7026G>A (p.Gly2342=) c.959G>A (n.959G>A) c.623G>A (n.623G>A) c.7041G>A (p.Gly2347=) c.306G>A (p.Gly102=) n.562G>A c.7221G>A (p.Gly2407=) c.7155G>A (p.Gly2385=) c.7218G>A (p.Gly2406=) c.7215G>A (p.Gly2405=) c.7161G>A (p.Gly2387=) c.7131G>A (p.Gly2377=) c.7086G>A (p.Gly2362=) c.6681G>A (p.Gly2227=) c.6039G>A (p.Gly2013=) c.3549G>A (p.Gly1183=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798550G>C | CA5546232 | CDH23 | c.7026G>C (p.Gly2342=) c.959G>C (n.959G>C) c.623G>C (n.623G>C) c.7041G>C (p.Gly2347=) c.306G>C (p.Gly102=) n.562G>C c.7221G>C (p.Gly2407=) c.7155G>C (p.Gly2385=) c.7218G>C (p.Gly2406=) c.7215G>C (p.Gly2405=) c.7161G>C (p.Gly2387=) c.7131G>C (p.Gly2377=) c.7086G>C (p.Gly2362=) c.6681G>C (p.Gly2227=) c.6039G>C (p.Gly2013=) c.3549G>C (p.Gly1183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798550G= | CA1918878500 | CDH23 | c.7026G= (p.Gly2342=) c.959G= (n.959G=) c.623G= (n.623G=) c.7041G= (p.Gly2347=) c.306G= (p.Gly102=) n.562G= c.7221G= (p.Gly2407=) c.7155G= (p.Gly2385=) c.7218G= (p.Gly2406=) c.7215G= (p.Gly2405=) c.7161G= (p.Gly2387=) c.7131G= (p.Gly2377=) c.7086G= (p.Gly2362=) c.6681G= (p.Gly2227=) c.6039G= (p.Gly2013=) c.3549G= (p.Gly1183=) | |
10 | g.71798550G>T | CA470062141 | CDH23 | c.7026G>T (p.Gly2342=) c.959G>T (n.959G>T) c.623G>T (n.623G>T) c.7041G>T (p.Gly2347=) c.306G>T (p.Gly102=) n.562G>T c.7221G>T (p.Gly2407=) c.7155G>T (p.Gly2385=) c.7218G>T (p.Gly2406=) c.7215G>T (p.Gly2405=) c.7161G>T (p.Gly2387=) c.7131G>T (p.Gly2377=) c.7086G>T (p.Gly2362=) c.6681G>T (p.Gly2227=) c.6039G>T (p.Gly2013=) c.3549G>T (p.Gly1183=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798551T>A | CA377158436 | CDH23 | c.7027T>A (p.Tyr2343Asn) c.960T>A (n.960T>A) c.624T>A (n.624T>A) c.7042T>A (p.Tyr2348Asn) c.307T>A (p.Tyr103Asn) n.563T>A c.7222T>A (p.Tyr2408Asn) c.7156T>A (p.Tyr2386Asn) c.7219T>A (p.Tyr2407Asn) c.7216T>A (p.Tyr2406Asn) c.7162T>A (p.Tyr2388Asn) c.7132T>A (p.Tyr2378Asn) c.7087T>A (p.Tyr2363Asn) c.6682T>A (p.Tyr2228Asn) c.6040T>A (p.Tyr2014Asn) c.3550T>A (p.Tyr1184Asn) | |
10 | g.71798551T>C | CA377158440 | CDH23 | c.7027T>C (p.Tyr2343His) c.960T>C (n.960T>C) c.624T>C (n.624T>C) c.7042T>C (p.Tyr2348His) c.307T>C (p.Tyr103His) n.563T>C c.7222T>C (p.Tyr2408His) c.7156T>C (p.Tyr2386His) c.7219T>C (p.Tyr2407His) c.7216T>C (p.Tyr2406His) c.7162T>C (p.Tyr2388His) c.7132T>C (p.Tyr2378His) c.7087T>C (p.Tyr2363His) c.6682T>C (p.Tyr2228His) c.6040T>C (p.Tyr2014His) c.3550T>C (p.Tyr1184His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798551T>G | CA377158441 | CDH23 | c.7027T>G (p.Tyr2343Asp) c.960T>G (n.960T>G) c.624T>G (n.624T>G) c.7042T>G (p.Tyr2348Asp) c.307T>G (p.Tyr103Asp) n.563T>G c.7222T>G (p.Tyr2408Asp) c.7156T>G (p.Tyr2386Asp) c.7219T>G (p.Tyr2407Asp) c.7216T>G (p.Tyr2406Asp) c.7162T>G (p.Tyr2388Asp) c.7132T>G (p.Tyr2378Asp) c.7087T>G (p.Tyr2363Asp) c.6682T>G (p.Tyr2228Asp) c.6040T>G (p.Tyr2014Asp) c.3550T>G (p.Tyr1184Asp) | |
10 | g.71798551T= | CA1918878501 | CDH23 | c.7027T= (p.Tyr2343=) c.960T= (n.960T=) c.624T= (n.624T=) c.7042T= (p.Tyr2348=) c.307T= (p.Tyr103=) n.563T= c.7222T= (p.Tyr2408=) c.7156T= (p.Tyr2386=) c.7219T= (p.Tyr2407=) c.7216T= (p.Tyr2406=) c.7162T= (p.Tyr2388=) c.7132T= (p.Tyr2378=) c.7087T= (p.Tyr2363=) c.6682T= (p.Tyr2228=) c.6040T= (p.Tyr2014=) c.3550T= (p.Tyr1184=) | |
10 | g.71798552A>C | CA377158442 | CDH23 | c.7028A>C (p.Tyr2343Ser) c.961A>C (n.961A>C) c.625A>C (n.625A>C) c.7043A>C (p.Tyr2348Ser) c.308A>C (p.Tyr103Ser) n.564A>C c.7223A>C (p.Tyr2408Ser) c.7157A>C (p.Tyr2386Ser) c.7220A>C (p.Tyr2407Ser) c.7217A>C (p.Tyr2406Ser) c.7163A>C (p.Tyr2388Ser) c.7133A>C (p.Tyr2378Ser) c.7088A>C (p.Tyr2363Ser) c.6683A>C (p.Tyr2228Ser) c.6041A>C (p.Tyr2014Ser) c.3551A>C (p.Tyr1184Ser) | |
10 | g.71798552A>G | CA377158443 | CDH23 | c.7028A>G (p.Tyr2343Cys) c.961A>G (n.961A>G) c.625A>G (n.625A>G) c.7043A>G (p.Tyr2348Cys) c.308A>G (p.Tyr103Cys) n.564A>G c.7223A>G (p.Tyr2408Cys) c.7157A>G (p.Tyr2386Cys) c.7220A>G (p.Tyr2407Cys) c.7217A>G (p.Tyr2406Cys) c.7163A>G (p.Tyr2388Cys) c.7133A>G (p.Tyr2378Cys) c.7088A>G (p.Tyr2363Cys) c.6683A>G (p.Tyr2228Cys) c.6041A>G (p.Tyr2014Cys) c.3551A>G (p.Tyr1184Cys) | |
10 | g.71798552A>T | CA377158444 | CDH23 | c.7028A>T (p.Tyr2343Phe) c.961A>T (n.961A>T) c.625A>T (n.625A>T) c.7043A>T (p.Tyr2348Phe) c.308A>T (p.Tyr103Phe) n.564A>T c.7223A>T (p.Tyr2408Phe) c.7157A>T (p.Tyr2386Phe) c.7220A>T (p.Tyr2407Phe) c.7217A>T (p.Tyr2406Phe) c.7163A>T (p.Tyr2388Phe) c.7133A>T (p.Tyr2378Phe) c.7088A>T (p.Tyr2363Phe) c.6683A>T (p.Tyr2228Phe) c.6041A>T (p.Tyr2014Phe) c.3551A>T (p.Tyr1184Phe) | |
10 | g.71798553T>A | CA377158445 | CDH23 | c.7029T>A (p.Tyr2343Ter) c.962T>A (n.962T>A) c.626T>A (n.626T>A) c.7044T>A (p.Tyr2348Ter) c.309T>A (p.Tyr103Ter) n.565T>A c.7224T>A (p.Tyr2408Ter) c.7158T>A (p.Tyr2386Ter) c.7221T>A (p.Tyr2407Ter) c.7218T>A (p.Tyr2406Ter) c.7164T>A (p.Tyr2388Ter) c.7134T>A (p.Tyr2378Ter) c.7089T>A (p.Tyr2363Ter) c.6684T>A (p.Tyr2228Ter) c.6042T>A (p.Tyr2014Ter) c.3552T>A (p.Tyr1184Ter) | |
10 | g.71798553T>C | CA470062178 | CDH23 | c.7029T>C (p.Tyr2343=) c.962T>C (n.962T>C) c.626T>C (n.626T>C) c.7044T>C (p.Tyr2348=) c.309T>C (p.Tyr103=) n.565T>C c.7224T>C (p.Tyr2408=) c.7158T>C (p.Tyr2386=) c.7221T>C (p.Tyr2407=) c.7218T>C (p.Tyr2406=) c.7164T>C (p.Tyr2388=) c.7134T>C (p.Tyr2378=) c.7089T>C (p.Tyr2363=) c.6684T>C (p.Tyr2228=) c.6042T>C (p.Tyr2014=) c.3552T>C (p.Tyr1184=) | ClinVar dbSNP |
10 | g.71798553T>G | CA377158446 | CDH23 | c.7029T>G (p.Tyr2343Ter) c.962T>G (n.962T>G) c.626T>G (n.626T>G) c.7044T>G (p.Tyr2348Ter) c.309T>G (p.Tyr103Ter) n.565T>G c.7224T>G (p.Tyr2408Ter) c.7158T>G (p.Tyr2386Ter) c.7221T>G (p.Tyr2407Ter) c.7218T>G (p.Tyr2406Ter) c.7164T>G (p.Tyr2388Ter) c.7134T>G (p.Tyr2378Ter) c.7089T>G (p.Tyr2363Ter) c.6684T>G (p.Tyr2228Ter) c.6042T>G (p.Tyr2014Ter) c.3552T>G (p.Tyr1184Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798553T= | CA1918878502 | CDH23 | c.7029T= (p.Tyr2343=) c.962T= (n.962T=) c.626T= (n.626T=) c.7044T= (p.Tyr2348=) c.309T= (p.Tyr103=) n.565T= c.7224T= (p.Tyr2408=) c.7158T= (p.Tyr2386=) c.7221T= (p.Tyr2407=) c.7218T= (p.Tyr2406=) c.7164T= (p.Tyr2388=) c.7134T= (p.Tyr2378=) c.7089T= (p.Tyr2363=) c.6684T= (p.Tyr2228=) c.6042T= (p.Tyr2014=) c.3552T= (p.Tyr1184=) |