Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71798393C>A | CA377157750 | CDH23 | c.6869C>A (p.Thr2290Lys) c.802C>A (n.802C>A) c.466C>A (n.466C>A) c.6884C>A (p.Thr2295Lys) c.149C>A (p.Thr50Lys) n.405C>A c.7064C>A (p.Thr2355Lys) c.6998C>A (p.Thr2333Lys) c.7061C>A (p.Thr2354Lys) c.7058C>A (p.Thr2353Lys) c.7004C>A (p.Thr2335Lys) c.6974C>A (p.Thr2325Lys) c.6929C>A (p.Thr2310Lys) c.6524C>A (p.Thr2175Lys) c.5882C>A (p.Thr1961Lys) c.3392C>A (p.Thr1131Lys) | |
10 | g.71798393C= | CA1918878422 | CDH23 | c.6869C= (p.Thr2290=) c.802C= (n.802C=) c.466C= (n.466C=) c.6884C= (p.Thr2295=) c.149C= (p.Thr50=) n.405C= c.7064C= (p.Thr2355=) c.6998C= (p.Thr2333=) c.7061C= (p.Thr2354=) c.7058C= (p.Thr2353=) c.7004C= (p.Thr2335=) c.6974C= (p.Thr2325=) c.6929C= (p.Thr2310=) c.6524C= (p.Thr2175=) c.5882C= (p.Thr1961=) c.3392C= (p.Thr1131=) | |
10 | g.71798393C>G | CA377157751 | CDH23 | c.6869C>G (p.Thr2290Arg) c.802C>G (n.802C>G) c.466C>G (n.466C>G) c.6884C>G (p.Thr2295Arg) c.149C>G (p.Thr50Arg) n.405C>G c.7064C>G (p.Thr2355Arg) c.6998C>G (p.Thr2333Arg) c.7061C>G (p.Thr2354Arg) c.7058C>G (p.Thr2353Arg) c.7004C>G (p.Thr2335Arg) c.6974C>G (p.Thr2325Arg) c.6929C>G (p.Thr2310Arg) c.6524C>G (p.Thr2175Arg) c.5882C>G (p.Thr1961Arg) c.3392C>G (p.Thr1131Arg) | |
10 | g.71798393C>T | CA5546213 | CDH23 | c.6869C>T (p.Thr2290Met) c.802C>T (n.802C>T) c.466C>T (n.466C>T) c.6884C>T (p.Thr2295Met) c.149C>T (p.Thr50Met) n.405C>T c.7064C>T (p.Thr2355Met) c.6998C>T (p.Thr2333Met) c.7061C>T (p.Thr2354Met) c.7058C>T (p.Thr2353Met) c.7004C>T (p.Thr2335Met) c.6974C>T (p.Thr2325Met) c.6929C>T (p.Thr2310Met) c.6524C>T (p.Thr2175Met) c.5882C>T (p.Thr1961Met) c.3392C>T (p.Thr1131Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798394G>A | CA5546214 | CDH23 | c.6870G>A (p.Thr2290=) c.803G>A (n.803G>A) c.467G>A (n.467G>A) c.6885G>A (p.Thr2295=) c.150G>A (p.Thr50=) n.406G>A c.7065G>A (p.Thr2355=) c.6999G>A (p.Thr2333=) c.7062G>A (p.Thr2354=) c.7059G>A (p.Thr2353=) c.7005G>A (p.Thr2335=) c.6975G>A (p.Thr2325=) c.6930G>A (p.Thr2310=) c.6525G>A (p.Thr2175=) c.5883G>A (p.Thr1961=) c.3393G>A (p.Thr1131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71798394G>C | CA470061973 | CDH23 | c.6870G>C (p.Thr2290=) c.803G>C (n.803G>C) c.467G>C (n.467G>C) c.6885G>C (p.Thr2295=) c.150G>C (p.Thr50=) n.406G>C c.7065G>C (p.Thr2355=) c.6999G>C (p.Thr2333=) c.7062G>C (p.Thr2354=) c.7059G>C (p.Thr2353=) c.7005G>C (p.Thr2335=) c.6975G>C (p.Thr2325=) c.6930G>C (p.Thr2310=) c.6525G>C (p.Thr2175=) c.5883G>C (p.Thr1961=) c.3393G>C (p.Thr1131=) | |
10 | g.71798394G= | CA1918878423 | CDH23 | c.6870G= (p.Thr2290=) c.803G= (n.803G=) c.467G= (n.467G=) c.6885G= (p.Thr2295=) c.150G= (p.Thr50=) n.406G= c.7065G= (p.Thr2355=) c.6999G= (p.Thr2333=) c.7062G= (p.Thr2354=) c.7059G= (p.Thr2353=) c.7005G= (p.Thr2335=) c.6975G= (p.Thr2325=) c.6930G= (p.Thr2310=) c.6525G= (p.Thr2175=) c.5883G= (p.Thr1961=) c.3393G= (p.Thr1131=) | |
10 | g.71798394G>T | CA209469563 | CDH23 | c.6870G>T (p.Thr2290=) c.803G>T (n.803G>T) c.467G>T (n.467G>T) c.6885G>T (p.Thr2295=) c.150G>T (p.Thr50=) n.406G>T c.7065G>T (p.Thr2355=) c.6999G>T (p.Thr2333=) c.7062G>T (p.Thr2354=) c.7059G>T (p.Thr2353=) c.7005G>T (p.Thr2335=) c.6975G>T (p.Thr2325=) c.6930G>T (p.Thr2310=) c.6525G>T (p.Thr2175=) c.5883G>T (p.Thr1961=) c.3393G>T (p.Thr1131=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798395C>A | CA377157753 | CDH23 | c.6871C>A (p.Pro2291Thr) c.804C>A (n.804C>A) c.468C>A (n.468C>A) c.6886C>A (p.Pro2296Thr) c.151C>A (p.Pro51Thr) n.407C>A c.7066C>A (p.Pro2356Thr) c.7000C>A (p.Pro2334Thr) c.7063C>A (p.Pro2355Thr) c.7060C>A (p.Pro2354Thr) c.7006C>A (p.Pro2336Thr) c.6976C>A (p.Pro2326Thr) c.6931C>A (p.Pro2311Thr) c.6526C>A (p.Pro2176Thr) c.5884C>A (p.Pro1962Thr) c.3394C>A (p.Pro1132Thr) | |
10 | g.71798395C>G | CA377157754 | CDH23 | c.6871C>G (p.Pro2291Ala) c.804C>G (n.804C>G) c.468C>G (n.468C>G) c.6886C>G (p.Pro2296Ala) c.151C>G (p.Pro51Ala) n.407C>G c.7066C>G (p.Pro2356Ala) c.7000C>G (p.Pro2334Ala) c.7063C>G (p.Pro2355Ala) c.7060C>G (p.Pro2354Ala) c.7006C>G (p.Pro2336Ala) c.6976C>G (p.Pro2326Ala) c.6931C>G (p.Pro2311Ala) c.6526C>G (p.Pro2176Ala) c.5884C>G (p.Pro1962Ala) c.3394C>G (p.Pro1132Ala) | |
10 | g.71798395C>T | CA377157756 | CDH23 | c.6871C>T (p.Pro2291Ser) c.804C>T (n.804C>T) c.468C>T (n.468C>T) c.6886C>T (p.Pro2296Ser) c.151C>T (p.Pro51Ser) n.407C>T c.7066C>T (p.Pro2356Ser) c.7000C>T (p.Pro2334Ser) c.7063C>T (p.Pro2355Ser) c.7060C>T (p.Pro2354Ser) c.7006C>T (p.Pro2336Ser) c.6976C>T (p.Pro2326Ser) c.6931C>T (p.Pro2311Ser) c.6526C>T (p.Pro2176Ser) c.5884C>T (p.Pro1962Ser) c.3394C>T (p.Pro1132Ser) | gnomAD v4 |
10 | g.71798398del | CA2609587676 | CDH23 | c.6874del (p.Gln2292SerfsTer?) c.807del (n.807del) c.471del (n.471del) c.6889del (p.Gln2297SerfsTer?) c.154del (p.Gln52SerfsTer?) n.410del c.7069del (p.Gln2357SerfsTer?) c.7003del (p.Gln2335SerfsTer?) c.7066del (p.Gln2356SerfsTer?) c.7063del (p.Gln2355SerfsTer?) c.7009del (p.Gln2337SerfsTer?) c.6979del (p.Gln2327SerfsTer?) c.6934del (p.Gln2312SerfsTer?) c.6529del (p.Gln2177SerfsTer?) c.5887del (p.Gln1963SerfsTer?) c.3397del (p.Gln1133SerfsTer?) | gnomAD v4 |
10 | g.71798396C>A | CA377157758 | CDH23 | c.6872C>A (p.Pro2291His) c.805C>A (n.805C>A) c.469C>A (n.469C>A) c.6887C>A (p.Pro2296His) c.152C>A (p.Pro51His) n.408C>A c.7067C>A (p.Pro2356His) c.7001C>A (p.Pro2334His) c.7064C>A (p.Pro2355His) c.7061C>A (p.Pro2354His) c.7007C>A (p.Pro2336His) c.6977C>A (p.Pro2326His) c.6932C>A (p.Pro2311His) c.6527C>A (p.Pro2176His) c.5885C>A (p.Pro1962His) c.3395C>A (p.Pro1132His) | |
10 | g.71798396C>G | CA377157759 | CDH23 | c.6872C>G (p.Pro2291Arg) c.805C>G (n.805C>G) c.469C>G (n.469C>G) c.6887C>G (p.Pro2296Arg) c.152C>G (p.Pro51Arg) n.408C>G c.7067C>G (p.Pro2356Arg) c.7001C>G (p.Pro2334Arg) c.7064C>G (p.Pro2355Arg) c.7061C>G (p.Pro2354Arg) c.7007C>G (p.Pro2336Arg) c.6977C>G (p.Pro2326Arg) c.6932C>G (p.Pro2311Arg) c.6527C>G (p.Pro2176Arg) c.5885C>G (p.Pro1962Arg) c.3395C>G (p.Pro1132Arg) | |
10 | g.71798396C>T | CA377157761 | CDH23 | c.6872C>T (p.Pro2291Leu) c.805C>T (n.805C>T) c.469C>T (n.469C>T) c.6887C>T (p.Pro2296Leu) c.152C>T (p.Pro51Leu) n.408C>T c.7067C>T (p.Pro2356Leu) c.7001C>T (p.Pro2334Leu) c.7064C>T (p.Pro2355Leu) c.7061C>T (p.Pro2354Leu) c.7007C>T (p.Pro2336Leu) c.6977C>T (p.Pro2326Leu) c.6932C>T (p.Pro2311Leu) c.6527C>T (p.Pro2176Leu) c.5885C>T (p.Pro1962Leu) c.3395C>T (p.Pro1132Leu) | |
10 | g.71798397C>A | CA470061975 | CDH23 | c.6873C>A (p.Pro2291=) c.806C>A (n.806C>A) c.470C>A (n.470C>A) c.6888C>A (p.Pro2296=) c.153C>A (p.Pro51=) n.409C>A c.7068C>A (p.Pro2356=) c.7002C>A (p.Pro2334=) c.7065C>A (p.Pro2355=) c.7062C>A (p.Pro2354=) c.7008C>A (p.Pro2336=) c.6978C>A (p.Pro2326=) c.6933C>A (p.Pro2311=) c.6528C>A (p.Pro2176=) c.5886C>A (p.Pro1962=) c.3396C>A (p.Pro1132=) | |
10 | g.71798397C= | CA1918878424 | CDH23 | c.6873C= (p.Pro2291=) c.806C= (n.806C=) c.470C= (n.470C=) c.6888C= (p.Pro2296=) c.153C= (p.Pro51=) n.409C= c.7068C= (p.Pro2356=) c.7002C= (p.Pro2334=) c.7065C= (p.Pro2355=) c.7062C= (p.Pro2354=) c.7008C= (p.Pro2336=) c.6978C= (p.Pro2326=) c.6933C= (p.Pro2311=) c.6528C= (p.Pro2176=) c.5886C= (p.Pro1962=) c.3396C= (p.Pro1132=) | |
10 | g.71798397C>G | CA470061976 | CDH23 | c.6873C>G (p.Pro2291=) c.806C>G (n.806C>G) c.470C>G (n.470C>G) c.6888C>G (p.Pro2296=) c.153C>G (p.Pro51=) n.409C>G c.7068C>G (p.Pro2356=) c.7002C>G (p.Pro2334=) c.7065C>G (p.Pro2355=) c.7062C>G (p.Pro2354=) c.7008C>G (p.Pro2336=) c.6978C>G (p.Pro2326=) c.6933C>G (p.Pro2311=) c.6528C>G (p.Pro2176=) c.5886C>G (p.Pro1962=) c.3396C>G (p.Pro1132=) | |
10 | g.71798397C>T | CA5546215 | CDH23 | c.6873C>T (p.Pro2291=) c.806C>T (n.806C>T) c.470C>T (n.470C>T) c.6888C>T (p.Pro2296=) c.153C>T (p.Pro51=) n.409C>T c.7068C>T (p.Pro2356=) c.7002C>T (p.Pro2334=) c.7065C>T (p.Pro2355=) c.7062C>T (p.Pro2354=) c.7008C>T (p.Pro2336=) c.6978C>T (p.Pro2326=) c.6933C>T (p.Pro2311=) c.6528C>T (p.Pro2176=) c.5886C>T (p.Pro1962=) c.3396C>T (p.Pro1132=) | dbSNP ExAC gnomAD v2 |
10 | g.71798398C>A | CA377157763 | CDH23 | c.6874C>A (p.Gln2292Lys) c.807C>A (n.807C>A) c.471C>A (n.471C>A) c.6889C>A (p.Gln2297Lys) c.154C>A (p.Gln52Lys) n.410C>A c.7069C>A (p.Gln2357Lys) c.7003C>A (p.Gln2335Lys) c.7066C>A (p.Gln2356Lys) c.7063C>A (p.Gln2355Lys) c.7009C>A (p.Gln2337Lys) c.6979C>A (p.Gln2327Lys) c.6934C>A (p.Gln2312Lys) c.6529C>A (p.Gln2177Lys) c.5887C>A (p.Gln1963Lys) c.3397C>A (p.Gln1133Lys) | |
10 | g.71798398C>G | CA377157765 | CDH23 | c.6874C>G (p.Gln2292Glu) c.807C>G (n.807C>G) c.471C>G (n.471C>G) c.6889C>G (p.Gln2297Glu) c.154C>G (p.Gln52Glu) n.410C>G c.7069C>G (p.Gln2357Glu) c.7003C>G (p.Gln2335Glu) c.7066C>G (p.Gln2356Glu) c.7063C>G (p.Gln2355Glu) c.7009C>G (p.Gln2337Glu) c.6979C>G (p.Gln2327Glu) c.6934C>G (p.Gln2312Glu) c.6529C>G (p.Gln2177Glu) c.5887C>G (p.Gln1963Glu) c.3397C>G (p.Gln1133Glu) | |
10 | g.71798398C>T | CA377157767 | CDH23 | c.6874C>T (p.Gln2292Ter) c.807C>T (n.807C>T) c.471C>T (n.471C>T) c.6889C>T (p.Gln2297Ter) c.154C>T (p.Gln52Ter) n.410C>T c.7069C>T (p.Gln2357Ter) c.7003C>T (p.Gln2335Ter) c.7066C>T (p.Gln2356Ter) c.7063C>T (p.Gln2355Ter) c.7009C>T (p.Gln2337Ter) c.6979C>T (p.Gln2327Ter) c.6934C>T (p.Gln2312Ter) c.6529C>T (p.Gln2177Ter) c.5887C>T (p.Gln1963Ter) c.3397C>T (p.Gln1133Ter) | |
10 | g.71798399A= | CA1918878425 | CDH23 | c.6875A= (p.Gln2292=) c.808A= (n.808A=) c.472A= (n.472A=) c.6890A= (p.Gln2297=) c.155A= (p.Gln52=) n.411A= c.7070A= (p.Gln2357=) c.7004A= (p.Gln2335=) c.7067A= (p.Gln2356=) c.7064A= (p.Gln2355=) c.7010A= (p.Gln2337=) c.6980A= (p.Gln2327=) c.6935A= (p.Gln2312=) c.6530A= (p.Gln2177=) c.5888A= (p.Gln1963=) c.3398A= (p.Gln1133=) | |
10 | g.71798399A>C | CA377157768 | CDH23 | c.6875A>C (p.Gln2292Pro) c.808A>C (n.808A>C) c.472A>C (n.472A>C) c.6890A>C (p.Gln2297Pro) c.155A>C (p.Gln52Pro) n.411A>C c.7070A>C (p.Gln2357Pro) c.7004A>C (p.Gln2335Pro) c.7067A>C (p.Gln2356Pro) c.7064A>C (p.Gln2355Pro) c.7010A>C (p.Gln2337Pro) c.6980A>C (p.Gln2327Pro) c.6935A>C (p.Gln2312Pro) c.6530A>C (p.Gln2177Pro) c.5888A>C (p.Gln1963Pro) c.3398A>C (p.Gln1133Pro) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798399A>G | CA377157770 | CDH23 | c.6875A>G (p.Gln2292Arg) c.808A>G (n.808A>G) c.472A>G (n.472A>G) c.6890A>G (p.Gln2297Arg) c.155A>G (p.Gln52Arg) n.411A>G c.7070A>G (p.Gln2357Arg) c.7004A>G (p.Gln2335Arg) c.7067A>G (p.Gln2356Arg) c.7064A>G (p.Gln2355Arg) c.7010A>G (p.Gln2337Arg) c.6980A>G (p.Gln2327Arg) c.6935A>G (p.Gln2312Arg) c.6530A>G (p.Gln2177Arg) c.5888A>G (p.Gln1963Arg) c.3398A>G (p.Gln1133Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798399A>T | CA377157771 | CDH23 | c.6875A>T (p.Gln2292Leu) c.808A>T (n.808A>T) c.472A>T (n.472A>T) c.6890A>T (p.Gln2297Leu) c.155A>T (p.Gln52Leu) n.411A>T c.7070A>T (p.Gln2357Leu) c.7004A>T (p.Gln2335Leu) c.7067A>T (p.Gln2356Leu) c.7064A>T (p.Gln2355Leu) c.7010A>T (p.Gln2337Leu) c.6980A>T (p.Gln2327Leu) c.6935A>T (p.Gln2312Leu) c.6530A>T (p.Gln2177Leu) c.5888A>T (p.Gln1963Leu) c.3398A>T (p.Gln1133Leu) | |
10 | g.71798400G>A | CA470061977 | CDH23 | c.6876G>A (p.Gln2292=) c.809G>A (n.809G>A) c.473G>A (n.473G>A) c.6891G>A (p.Gln2297=) c.156G>A (p.Gln52=) n.412G>A c.7071G>A (p.Gln2357=) c.7005G>A (p.Gln2335=) c.7068G>A (p.Gln2356=) c.7065G>A (p.Gln2355=) c.7011G>A (p.Gln2337=) c.6981G>A (p.Gln2327=) c.6936G>A (p.Gln2312=) c.6531G>A (p.Gln2177=) c.5889G>A (p.Gln1963=) c.3399G>A (p.Gln1133=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798400G>C | CA377157773 | CDH23 | c.6876G>C (p.Gln2292His) c.809G>C (n.809G>C) c.473G>C (n.473G>C) c.6891G>C (p.Gln2297His) c.156G>C (p.Gln52His) n.412G>C c.7071G>C (p.Gln2357His) c.7005G>C (p.Gln2335His) c.7068G>C (p.Gln2356His) c.7065G>C (p.Gln2355His) c.7011G>C (p.Gln2337His) c.6981G>C (p.Gln2327His) c.6936G>C (p.Gln2312His) c.6531G>C (p.Gln2177His) c.5889G>C (p.Gln1963His) c.3399G>C (p.Gln1133His) | |
10 | g.71798400G= | CA1918878426 | CDH23 | c.6876G= (p.Gln2292=) c.809G= (n.809G=) c.473G= (n.473G=) c.6891G= (p.Gln2297=) c.156G= (p.Gln52=) n.412G= c.7071G= (p.Gln2357=) c.7005G= (p.Gln2335=) c.7068G= (p.Gln2356=) c.7065G= (p.Gln2355=) c.7011G= (p.Gln2337=) c.6981G= (p.Gln2327=) c.6936G= (p.Gln2312=) c.6531G= (p.Gln2177=) c.5889G= (p.Gln1963=) c.3399G= (p.Gln1133=) | |
10 | g.71798400G>T | CA377157775 | CDH23 | c.6876G>T (p.Gln2292His) c.809G>T (n.809G>T) c.473G>T (n.473G>T) c.6891G>T (p.Gln2297His) c.156G>T (p.Gln52His) n.412G>T c.7071G>T (p.Gln2357His) c.7005G>T (p.Gln2335His) c.7068G>T (p.Gln2356His) c.7065G>T (p.Gln2355His) c.7011G>T (p.Gln2337His) c.6981G>T (p.Gln2327His) c.6936G>T (p.Gln2312His) c.6531G>T (p.Gln2177His) c.5889G>T (p.Gln1963His) c.3399G>T (p.Gln1133His) | |
10 | g.71798401T>A | CA377157776 | CDH23 | c.6877T>A (p.Phe2293Ile) c.810T>A (n.810T>A) c.474T>A (n.474T>A) c.6892T>A (p.Phe2298Ile) c.157T>A (p.Phe53Ile) n.413T>A c.7072T>A (p.Phe2358Ile) c.7006T>A (p.Phe2336Ile) c.7069T>A (p.Phe2357Ile) c.7066T>A (p.Phe2356Ile) c.7012T>A (p.Phe2338Ile) c.6982T>A (p.Phe2328Ile) c.6937T>A (p.Phe2313Ile) c.6532T>A (p.Phe2178Ile) c.5890T>A (p.Phe1964Ile) c.3400T>A (p.Phe1134Ile) | |
10 | g.71798401T>C | CA377157778 | CDH23 | c.6877T>C (p.Phe2293Leu) c.810T>C (n.810T>C) c.474T>C (n.474T>C) c.6892T>C (p.Phe2298Leu) c.157T>C (p.Phe53Leu) n.413T>C c.7072T>C (p.Phe2358Leu) c.7006T>C (p.Phe2336Leu) c.7069T>C (p.Phe2357Leu) c.7066T>C (p.Phe2356Leu) c.7012T>C (p.Phe2338Leu) c.6982T>C (p.Phe2328Leu) c.6937T>C (p.Phe2313Leu) c.6532T>C (p.Phe2178Leu) c.5890T>C (p.Phe1964Leu) c.3400T>C (p.Phe1134Leu) | dbSNP gnomAD v4 |
10 | g.71798401T>G | CA377157779 | CDH23 | c.6877T>G (p.Phe2293Val) c.810T>G (n.810T>G) c.474T>G (n.474T>G) c.6892T>G (p.Phe2298Val) c.157T>G (p.Phe53Val) n.413T>G c.7072T>G (p.Phe2358Val) c.7006T>G (p.Phe2336Val) c.7069T>G (p.Phe2357Val) c.7066T>G (p.Phe2356Val) c.7012T>G (p.Phe2338Val) c.6982T>G (p.Phe2328Val) c.6937T>G (p.Phe2313Val) c.6532T>G (p.Phe2178Val) c.5890T>G (p.Phe1964Val) c.3400T>G (p.Phe1134Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798401T= | CA1918878427 | CDH23 | c.6877T= (p.Phe2293=) c.810T= (n.810T=) c.474T= (n.474T=) c.6892T= (p.Phe2298=) c.157T= (p.Phe53=) n.413T= c.7072T= (p.Phe2358=) c.7006T= (p.Phe2336=) c.7069T= (p.Phe2357=) c.7066T= (p.Phe2356=) c.7012T= (p.Phe2338=) c.6982T= (p.Phe2328=) c.6937T= (p.Phe2313=) c.6532T= (p.Phe2178=) c.5890T= (p.Phe1964=) c.3400T= (p.Phe1134=) | |
10 | g.71798402T>A | CA377157781 | CDH23 | c.6878T>A (p.Phe2293Tyr) c.811T>A (n.811T>A) c.475T>A (n.475T>A) c.6893T>A (p.Phe2298Tyr) c.158T>A (p.Phe53Tyr) n.414T>A c.7073T>A (p.Phe2358Tyr) c.7007T>A (p.Phe2336Tyr) c.7070T>A (p.Phe2357Tyr) c.7067T>A (p.Phe2356Tyr) c.7013T>A (p.Phe2338Tyr) c.6983T>A (p.Phe2328Tyr) c.6938T>A (p.Phe2313Tyr) c.6533T>A (p.Phe2178Tyr) c.5891T>A (p.Phe1964Tyr) c.3401T>A (p.Phe1134Tyr) | |
10 | g.71798402T>C | CA377157783 | CDH23 | c.6878T>C (p.Phe2293Ser) c.811T>C (n.811T>C) c.475T>C (n.475T>C) c.6893T>C (p.Phe2298Ser) c.158T>C (p.Phe53Ser) n.414T>C c.7073T>C (p.Phe2358Ser) c.7007T>C (p.Phe2336Ser) c.7070T>C (p.Phe2357Ser) c.7067T>C (p.Phe2356Ser) c.7013T>C (p.Phe2338Ser) c.6983T>C (p.Phe2328Ser) c.6938T>C (p.Phe2313Ser) c.6533T>C (p.Phe2178Ser) c.5891T>C (p.Phe1964Ser) c.3401T>C (p.Phe1134Ser) | |
10 | g.71798402T>G | CA377157784 | CDH23 | c.6878T>G (p.Phe2293Cys) c.811T>G (n.811T>G) c.475T>G (n.475T>G) c.6893T>G (p.Phe2298Cys) c.158T>G (p.Phe53Cys) n.414T>G c.7073T>G (p.Phe2358Cys) c.7007T>G (p.Phe2336Cys) c.7070T>G (p.Phe2357Cys) c.7067T>G (p.Phe2356Cys) c.7013T>G (p.Phe2338Cys) c.6983T>G (p.Phe2328Cys) c.6938T>G (p.Phe2313Cys) c.6533T>G (p.Phe2178Cys) c.5891T>G (p.Phe1964Cys) c.3401T>G (p.Phe1134Cys) | |
10 | g.71798403C>A | CA377157785 | CDH23 | c.6879C>A (p.Phe2293Leu) c.812C>A (n.812C>A) c.476C>A (n.476C>A) c.6894C>A (p.Phe2298Leu) c.159C>A (p.Phe53Leu) n.415C>A c.7074C>A (p.Phe2358Leu) c.7008C>A (p.Phe2336Leu) c.7071C>A (p.Phe2357Leu) c.7068C>A (p.Phe2356Leu) c.7014C>A (p.Phe2338Leu) c.6984C>A (p.Phe2328Leu) c.6939C>A (p.Phe2313Leu) c.6534C>A (p.Phe2178Leu) c.5892C>A (p.Phe1964Leu) c.3402C>A (p.Phe1134Leu) | |
10 | g.71798403C>G | CA377157787 | CDH23 | c.6879C>G (p.Phe2293Leu) c.812C>G (n.812C>G) c.476C>G (n.476C>G) c.6894C>G (p.Phe2298Leu) c.159C>G (p.Phe53Leu) n.415C>G c.7074C>G (p.Phe2358Leu) c.7008C>G (p.Phe2336Leu) c.7071C>G (p.Phe2357Leu) c.7068C>G (p.Phe2356Leu) c.7014C>G (p.Phe2338Leu) c.6984C>G (p.Phe2328Leu) c.6939C>G (p.Phe2313Leu) c.6534C>G (p.Phe2178Leu) c.5892C>G (p.Phe1964Leu) c.3402C>G (p.Phe1134Leu) | gnomAD v4 COSMIC |
10 | g.71798403C>T | CA470061979 | CDH23 | c.6879C>T (p.Phe2293=) c.812C>T (n.812C>T) c.476C>T (n.476C>T) c.6894C>T (p.Phe2298=) c.159C>T (p.Phe53=) n.415C>T c.7074C>T (p.Phe2358=) c.7008C>T (p.Phe2336=) c.7071C>T (p.Phe2357=) c.7068C>T (p.Phe2356=) c.7014C>T (p.Phe2338=) c.6984C>T (p.Phe2328=) c.6939C>T (p.Phe2313=) c.6534C>T (p.Phe2178=) c.5892C>T (p.Phe1964=) c.3402C>T (p.Phe1134=) | |
10 | g.71798404A>C | CA377157789 | CDH23 | c.6880A>C (p.Lys2294Gln) c.813A>C (n.813A>C) c.477A>C (n.477A>C) c.6895A>C (p.Lys2299Gln) c.160A>C (p.Lys54Gln) n.416A>C c.7075A>C (p.Lys2359Gln) c.7009A>C (p.Lys2337Gln) c.7072A>C (p.Lys2358Gln) c.7069A>C (p.Lys2357Gln) c.7015A>C (p.Lys2339Gln) c.6985A>C (p.Lys2329Gln) c.6940A>C (p.Lys2314Gln) c.6535A>C (p.Lys2179Gln) c.5893A>C (p.Lys1965Gln) c.3403A>C (p.Lys1135Gln) | |
10 | g.71798404A>G | CA377157790 | CDH23 | c.6880A>G (p.Lys2294Glu) c.813A>G (n.813A>G) c.477A>G (n.477A>G) c.6895A>G (p.Lys2299Glu) c.160A>G (p.Lys54Glu) n.416A>G c.7075A>G (p.Lys2359Glu) c.7009A>G (p.Lys2337Glu) c.7072A>G (p.Lys2358Glu) c.7069A>G (p.Lys2357Glu) c.7015A>G (p.Lys2339Glu) c.6985A>G (p.Lys2329Glu) c.6940A>G (p.Lys2314Glu) c.6535A>G (p.Lys2179Glu) c.5893A>G (p.Lys1965Glu) c.3403A>G (p.Lys1135Glu) | |
10 | g.71798404A>T | CA377157792 | CDH23 | c.6880A>T (p.Lys2294Ter) c.813A>T (n.813A>T) c.477A>T (n.477A>T) c.6895A>T (p.Lys2299Ter) c.160A>T (p.Lys54Ter) n.416A>T c.7075A>T (p.Lys2359Ter) c.7009A>T (p.Lys2337Ter) c.7072A>T (p.Lys2358Ter) c.7069A>T (p.Lys2357Ter) c.7015A>T (p.Lys2339Ter) c.6985A>T (p.Lys2329Ter) c.6940A>T (p.Lys2314Ter) c.6535A>T (p.Lys2179Ter) c.5893A>T (p.Lys1965Ter) c.3403A>T (p.Lys1135Ter) | |
10 | g.71798405A>C | CA377157793 | CDH23 | c.6881A>C (p.Lys2294Thr) c.814A>C (n.814A>C) c.478A>C (n.478A>C) c.6896A>C (p.Lys2299Thr) c.161A>C (p.Lys54Thr) n.417A>C c.7076A>C (p.Lys2359Thr) c.7010A>C (p.Lys2337Thr) c.7073A>C (p.Lys2358Thr) c.7070A>C (p.Lys2357Thr) c.7016A>C (p.Lys2339Thr) c.6986A>C (p.Lys2329Thr) c.6941A>C (p.Lys2314Thr) c.6536A>C (p.Lys2179Thr) c.5894A>C (p.Lys1965Thr) c.3404A>C (p.Lys1135Thr) | |
10 | g.71798405A>G | CA377157794 | CDH23 | c.6881A>G (p.Lys2294Arg) c.814A>G (n.814A>G) c.478A>G (n.478A>G) c.6896A>G (p.Lys2299Arg) c.161A>G (p.Lys54Arg) n.417A>G c.7076A>G (p.Lys2359Arg) c.7010A>G (p.Lys2337Arg) c.7073A>G (p.Lys2358Arg) c.7070A>G (p.Lys2357Arg) c.7016A>G (p.Lys2339Arg) c.6986A>G (p.Lys2329Arg) c.6941A>G (p.Lys2314Arg) c.6536A>G (p.Lys2179Arg) c.5894A>G (p.Lys1965Arg) c.3404A>G (p.Lys1135Arg) | |
10 | g.71798405A>T | CA377157797 | CDH23 | c.6881A>T (p.Lys2294Met) c.814A>T (n.814A>T) c.478A>T (n.478A>T) c.6896A>T (p.Lys2299Met) c.161A>T (p.Lys54Met) n.417A>T c.7076A>T (p.Lys2359Met) c.7010A>T (p.Lys2337Met) c.7073A>T (p.Lys2358Met) c.7070A>T (p.Lys2357Met) c.7016A>T (p.Lys2339Met) c.6986A>T (p.Lys2329Met) c.6941A>T (p.Lys2314Met) c.6536A>T (p.Lys2179Met) c.5894A>T (p.Lys1965Met) c.3404A>T (p.Lys1135Met) | |
10 | g.71798405_71798406delinsAG | CA1918878428 | CDH23 | c.6881_6882delinsAG (p.Lys2294=) c.814_815delinsAG (n.814_815delinsAG) c.478_479delinsAG (n.478_479delinsAG) c.6896_6897delinsAG (p.Lys2299=) c.161_162delinsAG (p.Lys54=) n.417_418delinsAG c.7076_7077delinsAG (p.Lys2359=) c.7010_7011delinsAG (p.Lys2337=) c.7073_7074delinsAG (p.Lys2358=) c.7070_7071delinsAG (p.Lys2357=) c.7016_7017delinsAG (p.Lys2339=) c.6986_6987delinsAG (p.Lys2329=) c.6941_6942delinsAG (p.Lys2314=) c.6536_6537delinsAG (p.Lys2179=) c.5894_5895delinsAG (p.Lys1965=) c.3404_3405delinsAG (p.Lys1135=) | |
10 | g.71798406del | CA594706162 | CDH23 | c.6882del (p.Lys2294AsnfsTer?) c.815del (n.815del) c.479del (n.479del) c.6897del (p.Lys2299AsnfsTer?) c.162del (p.Lys54AsnfsTer?) n.418del c.7077del (p.Lys2359AsnfsTer?) c.7011del (p.Lys2337AsnfsTer?) c.7074del (p.Lys2358AsnfsTer?) c.7071del (p.Lys2357AsnfsTer?) c.7017del (p.Lys2339AsnfsTer?) c.6987del (p.Lys2329AsnfsTer?) c.6942del (p.Lys2314AsnfsTer?) c.6537del (p.Lys2179AsnfsTer?) c.5895del (p.Lys1965AsnfsTer?) c.3405del (p.Lys1135AsnfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798406G>A | CA470061983 | CDH23 | c.6882G>A (p.Lys2294=) c.815G>A (n.815G>A) c.479G>A (n.479G>A) c.6897G>A (p.Lys2299=) c.162G>A (p.Lys54=) n.418G>A c.7077G>A (p.Lys2359=) c.7011G>A (p.Lys2337=) c.7074G>A (p.Lys2358=) c.7071G>A (p.Lys2357=) c.7017G>A (p.Lys2339=) c.6987G>A (p.Lys2329=) c.6942G>A (p.Lys2314=) c.6537G>A (p.Lys2179=) c.5895G>A (p.Lys1965=) c.3405G>A (p.Lys1135=) | |
10 | g.71798406G>C | CA377157800 | CDH23 | c.6882G>C (p.Lys2294Asn) c.815G>C (n.815G>C) c.479G>C (n.479G>C) c.6897G>C (p.Lys2299Asn) c.162G>C (p.Lys54Asn) n.418G>C c.7077G>C (p.Lys2359Asn) c.7011G>C (p.Lys2337Asn) c.7074G>C (p.Lys2358Asn) c.7071G>C (p.Lys2357Asn) c.7017G>C (p.Lys2339Asn) c.6987G>C (p.Lys2329Asn) c.6942G>C (p.Lys2314Asn) c.6537G>C (p.Lys2179Asn) c.5895G>C (p.Lys1965Asn) c.3405G>C (p.Lys1135Asn) | |
10 | g.71798406G>T | CA377157798 | CDH23 | c.6882G>T (p.Lys2294Asn) c.815G>T (n.815G>T) c.479G>T (n.479G>T) c.6897G>T (p.Lys2299Asn) c.162G>T (p.Lys54Asn) n.418G>T c.7077G>T (p.Lys2359Asn) c.7011G>T (p.Lys2337Asn) c.7074G>T (p.Lys2358Asn) c.7071G>T (p.Lys2357Asn) c.7017G>T (p.Lys2339Asn) c.6987G>T (p.Lys2329Asn) c.6942G>T (p.Lys2314Asn) c.6537G>T (p.Lys2179Asn) c.5895G>T (p.Lys1965Asn) c.3405G>T (p.Lys1135Asn) | |
10 | g.71798407C>A | CA377157801 | CDH23 | c.6883C>A (p.Pro2295Thr) c.816C>A (n.816C>A) c.480C>A (n.480C>A) c.6898C>A (p.Pro2300Thr) c.163C>A (p.Pro55Thr) n.419C>A c.7078C>A (p.Pro2360Thr) c.7012C>A (p.Pro2338Thr) c.7075C>A (p.Pro2359Thr) c.7072C>A (p.Pro2358Thr) c.7018C>A (p.Pro2340Thr) c.6988C>A (p.Pro2330Thr) c.6943C>A (p.Pro2315Thr) c.6538C>A (p.Pro2180Thr) c.5896C>A (p.Pro1966Thr) c.3406C>A (p.Pro1136Thr) | |
10 | g.71798407C>G | CA377157802 | CDH23 | c.6883C>G (p.Pro2295Ala) c.816C>G (n.816C>G) c.480C>G (n.480C>G) c.6898C>G (p.Pro2300Ala) c.163C>G (p.Pro55Ala) n.419C>G c.7078C>G (p.Pro2360Ala) c.7012C>G (p.Pro2338Ala) c.7075C>G (p.Pro2359Ala) c.7072C>G (p.Pro2358Ala) c.7018C>G (p.Pro2340Ala) c.6988C>G (p.Pro2330Ala) c.6943C>G (p.Pro2315Ala) c.6538C>G (p.Pro2180Ala) c.5896C>G (p.Pro1966Ala) c.3406C>G (p.Pro1136Ala) | |
10 | g.71798407C>T | CA377157803 | CDH23 | c.6883C>T (p.Pro2295Ser) c.816C>T (n.816C>T) c.480C>T (n.480C>T) c.6898C>T (p.Pro2300Ser) c.163C>T (p.Pro55Ser) n.419C>T c.7078C>T (p.Pro2360Ser) c.7012C>T (p.Pro2338Ser) c.7075C>T (p.Pro2359Ser) c.7072C>T (p.Pro2358Ser) c.7018C>T (p.Pro2340Ser) c.6988C>T (p.Pro2330Ser) c.6943C>T (p.Pro2315Ser) c.6538C>T (p.Pro2180Ser) c.5896C>T (p.Pro1966Ser) c.3406C>T (p.Pro1136Ser) | |
10 | g.71798408C>A | CA377157805 | CDH23 | c.6884C>A (p.Pro2295His) c.817C>A (n.817C>A) c.481C>A (n.481C>A) c.6899C>A (p.Pro2300His) c.164C>A (p.Pro55His) n.420C>A c.7079C>A (p.Pro2360His) c.7013C>A (p.Pro2338His) c.7076C>A (p.Pro2359His) c.7073C>A (p.Pro2358His) c.7019C>A (p.Pro2340His) c.6989C>A (p.Pro2330His) c.6944C>A (p.Pro2315His) c.6539C>A (p.Pro2180His) c.5897C>A (p.Pro1966His) c.3407C>A (p.Pro1136His) | |
10 | g.71798408C= | CA1918878429 | CDH23 | c.6884C= (p.Pro2295=) c.817C= (n.817C=) c.481C= (n.481C=) c.6899C= (p.Pro2300=) c.164C= (p.Pro55=) n.420C= c.7079C= (p.Pro2360=) c.7013C= (p.Pro2338=) c.7076C= (p.Pro2359=) c.7073C= (p.Pro2358=) c.7019C= (p.Pro2340=) c.6989C= (p.Pro2330=) c.6944C= (p.Pro2315=) c.6539C= (p.Pro2180=) c.5897C= (p.Pro1966=) c.3407C= (p.Pro1136=) | |
10 | g.71798408C>G | CA377157807 | CDH23 | c.6884C>G (p.Pro2295Arg) c.817C>G (n.817C>G) c.481C>G (n.481C>G) c.6899C>G (p.Pro2300Arg) c.164C>G (p.Pro55Arg) n.420C>G c.7079C>G (p.Pro2360Arg) c.7013C>G (p.Pro2338Arg) c.7076C>G (p.Pro2359Arg) c.7073C>G (p.Pro2358Arg) c.7019C>G (p.Pro2340Arg) c.6989C>G (p.Pro2330Arg) c.6944C>G (p.Pro2315Arg) c.6539C>G (p.Pro2180Arg) c.5897C>G (p.Pro1966Arg) c.3407C>G (p.Pro1136Arg) | |
10 | g.71798408C>T | CA209469580 | CDH23 | c.6884C>T (p.Pro2295Leu) c.817C>T (n.817C>T) c.481C>T (n.481C>T) c.6899C>T (p.Pro2300Leu) c.164C>T (p.Pro55Leu) n.420C>T c.7079C>T (p.Pro2360Leu) c.7013C>T (p.Pro2338Leu) c.7076C>T (p.Pro2359Leu) c.7073C>T (p.Pro2358Leu) c.7019C>T (p.Pro2340Leu) c.6989C>T (p.Pro2330Leu) c.6944C>T (p.Pro2315Leu) c.6539C>T (p.Pro2180Leu) c.5897C>T (p.Pro1966Leu) c.3407C>T (p.Pro1136Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798409C>A | CA470061984 | CDH23 | c.6885C>A (p.Pro2295=) c.818C>A (n.818C>A) c.482C>A (n.482C>A) c.6900C>A (p.Pro2300=) c.165C>A (p.Pro55=) n.421C>A c.7080C>A (p.Pro2360=) c.7014C>A (p.Pro2338=) c.7077C>A (p.Pro2359=) c.7074C>A (p.Pro2358=) c.7020C>A (p.Pro2340=) c.6990C>A (p.Pro2330=) c.6945C>A (p.Pro2315=) c.6540C>A (p.Pro2180=) c.5898C>A (p.Pro1966=) c.3408C>A (p.Pro1136=) | COSMIC |
10 | g.71798409C>G | CA470061986 | CDH23 | c.6885C>G (p.Pro2295=) c.818C>G (n.818C>G) c.482C>G (n.482C>G) c.6900C>G (p.Pro2300=) c.165C>G (p.Pro55=) n.421C>G c.7080C>G (p.Pro2360=) c.7014C>G (p.Pro2338=) c.7077C>G (p.Pro2359=) c.7074C>G (p.Pro2358=) c.7020C>G (p.Pro2340=) c.6990C>G (p.Pro2330=) c.6945C>G (p.Pro2315=) c.6540C>G (p.Pro2180=) c.5898C>G (p.Pro1966=) c.3408C>G (p.Pro1136=) | ClinVar |
10 | g.71798409C>T | CA470061987 | CDH23 | c.6885C>T (p.Pro2295=) c.818C>T (n.818C>T) c.482C>T (n.482C>T) c.6900C>T (p.Pro2300=) c.165C>T (p.Pro55=) n.421C>T c.7080C>T (p.Pro2360=) c.7014C>T (p.Pro2338=) c.7077C>T (p.Pro2359=) c.7074C>T (p.Pro2358=) c.7020C>T (p.Pro2340=) c.6990C>T (p.Pro2330=) c.6945C>T (p.Pro2315=) c.6540C>T (p.Pro2180=) c.5898C>T (p.Pro1966=) c.3408C>T (p.Pro1136=) | |
10 | g.71798410T>A | CA377157809 | CDH23 | c.6886T>A (p.Phe2296Ile) c.819T>A (n.819T>A) c.483T>A (n.483T>A) c.6901T>A (p.Phe2301Ile) c.166T>A (p.Phe56Ile) n.422T>A c.7081T>A (p.Phe2361Ile) c.7015T>A (p.Phe2339Ile) c.7078T>A (p.Phe2360Ile) c.7075T>A (p.Phe2359Ile) c.7021T>A (p.Phe2341Ile) c.6991T>A (p.Phe2331Ile) c.6946T>A (p.Phe2316Ile) c.6541T>A (p.Phe2181Ile) c.5899T>A (p.Phe1967Ile) c.3409T>A (p.Phe1137Ile) | |
10 | g.71798410T>C | CA377157811 | CDH23 | c.6886T>C (p.Phe2296Leu) c.819T>C (n.819T>C) c.483T>C (n.483T>C) c.6901T>C (p.Phe2301Leu) c.166T>C (p.Phe56Leu) n.422T>C c.7081T>C (p.Phe2361Leu) c.7015T>C (p.Phe2339Leu) c.7078T>C (p.Phe2360Leu) c.7075T>C (p.Phe2359Leu) c.7021T>C (p.Phe2341Leu) c.6991T>C (p.Phe2331Leu) c.6946T>C (p.Phe2316Leu) c.6541T>C (p.Phe2181Leu) c.5899T>C (p.Phe1967Leu) c.3409T>C (p.Phe1137Leu) | |
10 | g.71798410T>G | CA377157810 | CDH23 | c.6886T>G (p.Phe2296Val) c.819T>G (n.819T>G) c.483T>G (n.483T>G) c.6901T>G (p.Phe2301Val) c.166T>G (p.Phe56Val) n.422T>G c.7081T>G (p.Phe2361Val) c.7015T>G (p.Phe2339Val) c.7078T>G (p.Phe2360Val) c.7075T>G (p.Phe2359Val) c.7021T>G (p.Phe2341Val) c.6991T>G (p.Phe2331Val) c.6946T>G (p.Phe2316Val) c.6541T>G (p.Phe2181Val) c.5899T>G (p.Phe1967Val) c.3409T>G (p.Phe1137Val) | |
10 | g.71798412del | CA2695212176 | CDH23 | c.6888del (p.Phe2296LeufsTer?) c.821del (n.821del) c.485del (n.485del) c.6903del (p.Phe2301LeufsTer?) c.168del (p.Phe56LeufsTer?) n.424del c.7083del (p.Phe2361LeufsTer?) c.7017del (p.Phe2339LeufsTer?) c.7080del (p.Phe2360LeufsTer?) c.7077del (p.Phe2359LeufsTer?) c.7023del (p.Phe2341LeufsTer?) c.6993del (p.Phe2331LeufsTer?) c.6948del (p.Phe2316LeufsTer?) c.6543del (p.Phe2181LeufsTer?) c.5901del (p.Phe1967LeufsTer?) c.3411del (p.Phe1137LeufsTer?) | |
10 | g.71798411T>A | CA377157812 | CDH23 | c.6887T>A (p.Phe2296Tyr) c.820T>A (n.820T>A) c.484T>A (n.484T>A) c.6902T>A (p.Phe2301Tyr) c.167T>A (p.Phe56Tyr) n.423T>A c.7082T>A (p.Phe2361Tyr) c.7016T>A (p.Phe2339Tyr) c.7079T>A (p.Phe2360Tyr) c.7076T>A (p.Phe2359Tyr) c.7022T>A (p.Phe2341Tyr) c.6992T>A (p.Phe2331Tyr) c.6947T>A (p.Phe2316Tyr) c.6542T>A (p.Phe2181Tyr) c.5900T>A (p.Phe1967Tyr) c.3410T>A (p.Phe1137Tyr) | |
10 | g.71798411T>C | CA377157814 | CDH23 | c.6887T>C (p.Phe2296Ser) c.820T>C (n.820T>C) c.484T>C (n.484T>C) c.6902T>C (p.Phe2301Ser) c.167T>C (p.Phe56Ser) n.423T>C c.7082T>C (p.Phe2361Ser) c.7016T>C (p.Phe2339Ser) c.7079T>C (p.Phe2360Ser) c.7076T>C (p.Phe2359Ser) c.7022T>C (p.Phe2341Ser) c.6992T>C (p.Phe2331Ser) c.6947T>C (p.Phe2316Ser) c.6542T>C (p.Phe2181Ser) c.5900T>C (p.Phe1967Ser) c.3410T>C (p.Phe1137Ser) | |
10 | g.71798411T>G | CA377157815 | CDH23 | c.6887T>G (p.Phe2296Cys) c.820T>G (n.820T>G) c.484T>G (n.484T>G) c.6902T>G (p.Phe2301Cys) c.167T>G (p.Phe56Cys) n.423T>G c.7082T>G (p.Phe2361Cys) c.7016T>G (p.Phe2339Cys) c.7079T>G (p.Phe2360Cys) c.7076T>G (p.Phe2359Cys) c.7022T>G (p.Phe2341Cys) c.6992T>G (p.Phe2331Cys) c.6947T>G (p.Phe2316Cys) c.6542T>G (p.Phe2181Cys) c.5900T>G (p.Phe1967Cys) c.3410T>G (p.Phe1137Cys) | |
10 | g.71798412T>A | CA377157817 | CDH23 | c.6888T>A (p.Phe2296Leu) c.821T>A (n.821T>A) c.485T>A (n.485T>A) c.6903T>A (p.Phe2301Leu) c.168T>A (p.Phe56Leu) n.424T>A c.7083T>A (p.Phe2361Leu) c.7017T>A (p.Phe2339Leu) c.7080T>A (p.Phe2360Leu) c.7077T>A (p.Phe2359Leu) c.7023T>A (p.Phe2341Leu) c.6993T>A (p.Phe2331Leu) c.6948T>A (p.Phe2316Leu) c.6543T>A (p.Phe2181Leu) c.5901T>A (p.Phe1967Leu) c.3411T>A (p.Phe1137Leu) | |
10 | g.71798412T>C | CA470061988 | CDH23 | c.6888T>C (p.Phe2296=) c.821T>C (n.821T>C) c.485T>C (n.485T>C) c.6903T>C (p.Phe2301=) c.168T>C (p.Phe56=) n.424T>C c.7083T>C (p.Phe2361=) c.7017T>C (p.Phe2339=) c.7080T>C (p.Phe2360=) c.7077T>C (p.Phe2359=) c.7023T>C (p.Phe2341=) c.6993T>C (p.Phe2331=) c.6948T>C (p.Phe2316=) c.6543T>C (p.Phe2181=) c.5901T>C (p.Phe1967=) c.3411T>C (p.Phe1137=) | |
10 | g.71798412T>G | CA377157818 | CDH23 | c.6888T>G (p.Phe2296Leu) c.821T>G (n.821T>G) c.485T>G (n.485T>G) c.6903T>G (p.Phe2301Leu) c.168T>G (p.Phe56Leu) n.424T>G c.7083T>G (p.Phe2361Leu) c.7017T>G (p.Phe2339Leu) c.7080T>G (p.Phe2360Leu) c.7077T>G (p.Phe2359Leu) c.7023T>G (p.Phe2341Leu) c.6993T>G (p.Phe2331Leu) c.6948T>G (p.Phe2316Leu) c.6543T>G (p.Phe2181Leu) c.5901T>G (p.Phe1967Leu) c.3411T>G (p.Phe1137Leu) | |
10 | g.71798413G>A | CA5546216 | CDH23 | c.6889G>A (p.Gly2297Arg) c.822G>A (n.822G>A) c.486G>A (n.486G>A) c.6904G>A (p.Gly2302Arg) c.169G>A (p.Gly57Arg) n.425G>A c.7084G>A (p.Gly2362Arg) c.7018G>A (p.Gly2340Arg) c.7081G>A (p.Gly2361Arg) c.7078G>A (p.Gly2360Arg) c.7024G>A (p.Gly2342Arg) c.6994G>A (p.Gly2332Arg) c.6949G>A (p.Gly2317Arg) c.6544G>A (p.Gly2182Arg) c.5902G>A (p.Gly1968Arg) c.3412G>A (p.Gly1138Arg) | dbSNP ExAC gnomAD v2 |
10 | g.71798413G>C | CA377157820 | CDH23 | c.6889G>C (p.Gly2297Arg) c.822G>C (n.822G>C) c.486G>C (n.486G>C) c.6904G>C (p.Gly2302Arg) c.169G>C (p.Gly57Arg) n.425G>C c.7084G>C (p.Gly2362Arg) c.7018G>C (p.Gly2340Arg) c.7081G>C (p.Gly2361Arg) c.7078G>C (p.Gly2360Arg) c.7024G>C (p.Gly2342Arg) c.6994G>C (p.Gly2332Arg) c.6949G>C (p.Gly2317Arg) c.6544G>C (p.Gly2182Arg) c.5902G>C (p.Gly1968Arg) c.3412G>C (p.Gly1138Arg) | |
10 | g.71798413G= | CA1918878430 | CDH23 | c.6889G= (p.Gly2297=) c.822G= (n.822G=) c.486G= (n.486G=) c.6904G= (p.Gly2302=) c.169G= (p.Gly57=) n.425G= c.7084G= (p.Gly2362=) c.7018G= (p.Gly2340=) c.7081G= (p.Gly2361=) c.7078G= (p.Gly2360=) c.7024G= (p.Gly2342=) c.6994G= (p.Gly2332=) c.6949G= (p.Gly2317=) c.6544G= (p.Gly2182=) c.5902G= (p.Gly1968=) c.3412G= (p.Gly1138=) | |
10 | g.71798413G>T | CA377157821 | CDH23 | c.6889G>T (p.Gly2297Trp) c.822G>T (n.822G>T) c.486G>T (n.486G>T) c.6904G>T (p.Gly2302Trp) c.169G>T (p.Gly57Trp) n.425G>T c.7084G>T (p.Gly2362Trp) c.7018G>T (p.Gly2340Trp) c.7081G>T (p.Gly2361Trp) c.7078G>T (p.Gly2360Trp) c.7024G>T (p.Gly2342Trp) c.6994G>T (p.Gly2332Trp) c.6949G>T (p.Gly2317Trp) c.6544G>T (p.Gly2182Trp) c.5902G>T (p.Gly1968Trp) c.3412G>T (p.Gly1138Trp) | |
10 | g.71798414G>A | CA377157823 | CDH23 | c.6890G>A (p.Gly2297Glu) c.823G>A (n.823G>A) c.487G>A (n.487G>A) c.6905G>A (p.Gly2302Glu) c.170G>A (p.Gly57Glu) n.426G>A c.7085G>A (p.Gly2362Glu) c.7019G>A (p.Gly2340Glu) c.7082G>A (p.Gly2361Glu) c.7079G>A (p.Gly2360Glu) c.7025G>A (p.Gly2342Glu) c.6995G>A (p.Gly2332Glu) c.6950G>A (p.Gly2317Glu) c.6545G>A (p.Gly2182Glu) c.5903G>A (p.Gly1968Glu) c.3413G>A (p.Gly1138Glu) | |
10 | g.71798414G>C | CA377157824 | CDH23 | c.6890G>C (p.Gly2297Ala) c.823G>C (n.823G>C) c.487G>C (n.487G>C) c.6905G>C (p.Gly2302Ala) c.170G>C (p.Gly57Ala) n.426G>C c.7085G>C (p.Gly2362Ala) c.7019G>C (p.Gly2340Ala) c.7082G>C (p.Gly2361Ala) c.7079G>C (p.Gly2360Ala) c.7025G>C (p.Gly2342Ala) c.6995G>C (p.Gly2332Ala) c.6950G>C (p.Gly2317Ala) c.6545G>C (p.Gly2182Ala) c.5903G>C (p.Gly1968Ala) c.3413G>C (p.Gly1138Ala) | |
10 | g.71798414G>T | CA377157825 | CDH23 | c.6890G>T (p.Gly2297Val) c.823G>T (n.823G>T) c.487G>T (n.487G>T) c.6905G>T (p.Gly2302Val) c.170G>T (p.Gly57Val) n.426G>T c.7085G>T (p.Gly2362Val) c.7019G>T (p.Gly2340Val) c.7082G>T (p.Gly2361Val) c.7079G>T (p.Gly2360Val) c.7025G>T (p.Gly2342Val) c.6995G>T (p.Gly2332Val) c.6950G>T (p.Gly2317Val) c.6545G>T (p.Gly2182Val) c.5903G>T (p.Gly1968Val) c.3413G>T (p.Gly1138Val) | |
10 | g.71798415G>A | CA470061990 | CDH23 | c.6891G>A (p.Gly2297=) c.824G>A (n.824G>A) c.488G>A (n.488G>A) c.6906G>A (p.Gly2302=) c.171G>A (p.Gly57=) n.427G>A c.7086G>A (p.Gly2362=) c.7020G>A (p.Gly2340=) c.7083G>A (p.Gly2361=) c.7080G>A (p.Gly2360=) c.7026G>A (p.Gly2342=) c.6996G>A (p.Gly2332=) c.6951G>A (p.Gly2317=) c.6546G>A (p.Gly2182=) c.5904G>A (p.Gly1968=) c.3414G>A (p.Gly1138=) | |
10 | g.71798415G>C | CA470061991 | CDH23 | c.6891G>C (p.Gly2297=) c.824G>C (n.824G>C) c.488G>C (n.488G>C) c.6906G>C (p.Gly2302=) c.171G>C (p.Gly57=) n.427G>C c.7086G>C (p.Gly2362=) c.7020G>C (p.Gly2340=) c.7083G>C (p.Gly2361=) c.7080G>C (p.Gly2360=) c.7026G>C (p.Gly2342=) c.6996G>C (p.Gly2332=) c.6951G>C (p.Gly2317=) c.6546G>C (p.Gly2182=) c.5904G>C (p.Gly1968=) c.3414G>C (p.Gly1138=) | |
10 | g.71798415G>T | CA470061992 | CDH23 | c.6891G>T (p.Gly2297=) c.824G>T (n.824G>T) c.488G>T (n.488G>T) c.6906G>T (p.Gly2302=) c.171G>T (p.Gly57=) n.427G>T c.7086G>T (p.Gly2362=) c.7020G>T (p.Gly2340=) c.7083G>T (p.Gly2361=) c.7080G>T (p.Gly2360=) c.7026G>T (p.Gly2342=) c.6996G>T (p.Gly2332=) c.6951G>T (p.Gly2317=) c.6546G>T (p.Gly2182=) c.5904G>T (p.Gly1968=) c.3414G>T (p.Gly1138=) | |
10 | g.71798416A>C | CA377157831 | CDH23 | c.6892A>C (p.Ile2298Leu) c.825A>C (n.825A>C) c.489A>C (n.489A>C) c.6907A>C (p.Ile2303Leu) c.172A>C (p.Ile58Leu) n.428A>C c.7087A>C (p.Ile2363Leu) c.7021A>C (p.Ile2341Leu) c.7084A>C (p.Ile2362Leu) c.7081A>C (p.Ile2361Leu) c.7027A>C (p.Ile2343Leu) c.6997A>C (p.Ile2333Leu) c.6952A>C (p.Ile2318Leu) c.6547A>C (p.Ile2183Leu) c.5905A>C (p.Ile1969Leu) c.3415A>C (p.Ile1139Leu) | |
10 | g.71798416A>G | CA377157829 | CDH23 | c.6892A>G (p.Ile2298Val) c.825A>G (n.825A>G) c.489A>G (n.489A>G) c.6907A>G (p.Ile2303Val) c.172A>G (p.Ile58Val) n.428A>G c.7087A>G (p.Ile2363Val) c.7021A>G (p.Ile2341Val) c.7084A>G (p.Ile2362Val) c.7081A>G (p.Ile2361Val) c.7027A>G (p.Ile2343Val) c.6997A>G (p.Ile2333Val) c.6952A>G (p.Ile2318Val) c.6547A>G (p.Ile2183Val) c.5905A>G (p.Ile1969Val) c.3415A>G (p.Ile1139Val) | |
10 | g.71798416A>T | CA377157827 | CDH23 | c.6892A>T (p.Ile2298Phe) c.825A>T (n.825A>T) c.489A>T (n.489A>T) c.6907A>T (p.Ile2303Phe) c.172A>T (p.Ile58Phe) n.428A>T c.7087A>T (p.Ile2363Phe) c.7021A>T (p.Ile2341Phe) c.7084A>T (p.Ile2362Phe) c.7081A>T (p.Ile2361Phe) c.7027A>T (p.Ile2343Phe) c.6997A>T (p.Ile2333Phe) c.6952A>T (p.Ile2318Phe) c.6547A>T (p.Ile2183Phe) c.5905A>T (p.Ile1969Phe) c.3415A>T (p.Ile1139Phe) | |
10 | g.71798417T>A | CA377157832 | CDH23 | c.6893T>A (p.Ile2298Asn) c.826T>A (n.826T>A) c.490T>A (n.490T>A) c.6908T>A (p.Ile2303Asn) c.173T>A (p.Ile58Asn) n.429T>A c.7088T>A (p.Ile2363Asn) c.7022T>A (p.Ile2341Asn) c.7085T>A (p.Ile2362Asn) c.7082T>A (p.Ile2361Asn) c.7028T>A (p.Ile2343Asn) c.6998T>A (p.Ile2333Asn) c.6953T>A (p.Ile2318Asn) c.6548T>A (p.Ile2183Asn) c.5906T>A (p.Ile1969Asn) c.3416T>A (p.Ile1139Asn) | |
10 | g.71798417T>C | CA377157835 | CDH23 | c.6893T>C (p.Ile2298Thr) c.826T>C (n.826T>C) c.490T>C (n.490T>C) c.6908T>C (p.Ile2303Thr) c.173T>C (p.Ile58Thr) n.429T>C c.7088T>C (p.Ile2363Thr) c.7022T>C (p.Ile2341Thr) c.7085T>C (p.Ile2362Thr) c.7082T>C (p.Ile2361Thr) c.7028T>C (p.Ile2343Thr) c.6998T>C (p.Ile2333Thr) c.6953T>C (p.Ile2318Thr) c.6548T>C (p.Ile2183Thr) c.5906T>C (p.Ile1969Thr) c.3416T>C (p.Ile1139Thr) | dbSNP |
10 | g.71798417T>G | CA377157834 | CDH23 | c.6893T>G (p.Ile2298Ser) c.826T>G (n.826T>G) c.490T>G (n.490T>G) c.6908T>G (p.Ile2303Ser) c.173T>G (p.Ile58Ser) n.429T>G c.7088T>G (p.Ile2363Ser) c.7022T>G (p.Ile2341Ser) c.7085T>G (p.Ile2362Ser) c.7082T>G (p.Ile2361Ser) c.7028T>G (p.Ile2343Ser) c.6998T>G (p.Ile2333Ser) c.6953T>G (p.Ile2318Ser) c.6548T>G (p.Ile2183Ser) c.5906T>G (p.Ile1969Ser) c.3416T>G (p.Ile1139Ser) | |
10 | g.71798418C>A | CA470061993 | CDH23 | c.6894C>A (p.Ile2298=) c.827C>A (n.827C>A) c.491C>A (n.491C>A) c.6909C>A (p.Ile2303=) c.174C>A (p.Ile58=) n.430C>A c.7089C>A (p.Ile2363=) c.7023C>A (p.Ile2341=) c.7086C>A (p.Ile2362=) c.7083C>A (p.Ile2361=) c.7029C>A (p.Ile2343=) c.6999C>A (p.Ile2333=) c.6954C>A (p.Ile2318=) c.6549C>A (p.Ile2183=) c.5907C>A (p.Ile1969=) c.3417C>A (p.Ile1139=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798418C= | CA1918878431 | CDH23 | c.6894C= (p.Ile2298=) c.827C= (n.827C=) c.491C= (n.491C=) c.6909C= (p.Ile2303=) c.174C= (p.Ile58=) n.430C= c.7089C= (p.Ile2363=) c.7023C= (p.Ile2341=) c.7086C= (p.Ile2362=) c.7083C= (p.Ile2361=) c.7029C= (p.Ile2343=) c.6999C= (p.Ile2333=) c.6954C= (p.Ile2318=) c.6549C= (p.Ile2183=) c.5907C= (p.Ile1969=) c.3417C= (p.Ile1139=) | |
10 | g.71798418C>G | CA5546217 | CDH23 | c.6894C>G (p.Ile2298Met) c.827C>G (n.827C>G) c.491C>G (n.491C>G) c.6909C>G (p.Ile2303Met) c.174C>G (p.Ile58Met) n.430C>G c.7089C>G (p.Ile2363Met) c.7023C>G (p.Ile2341Met) c.7086C>G (p.Ile2362Met) c.7083C>G (p.Ile2361Met) c.7029C>G (p.Ile2343Met) c.6999C>G (p.Ile2333Met) c.6954C>G (p.Ile2318Met) c.6549C>G (p.Ile2183Met) c.5907C>G (p.Ile1969Met) c.3417C>G (p.Ile1139Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798418C>T | CA470061994 | CDH23 | c.6894C>T (p.Ile2298=) c.827C>T (n.827C>T) c.491C>T (n.491C>T) c.6909C>T (p.Ile2303=) c.174C>T (p.Ile58=) n.430C>T c.7089C>T (p.Ile2363=) c.7023C>T (p.Ile2341=) c.7086C>T (p.Ile2362=) c.7083C>T (p.Ile2361=) c.7029C>T (p.Ile2343=) c.6999C>T (p.Ile2333=) c.6954C>T (p.Ile2318=) c.6549C>T (p.Ile2183=) c.5907C>T (p.Ile1969=) c.3417C>T (p.Ile1139=) | gnomAD v4 |
10 | g.71798419A>C | CA377157839 | CDH23 | c.6895A>C (p.Thr2299Pro) c.828A>C (n.828A>C) c.492A>C (n.492A>C) c.6910A>C (p.Thr2304Pro) c.175A>C (p.Thr59Pro) n.431A>C c.7090A>C (p.Thr2364Pro) c.7024A>C (p.Thr2342Pro) c.7087A>C (p.Thr2363Pro) c.7084A>C (p.Thr2362Pro) c.7030A>C (p.Thr2344Pro) c.7000A>C (p.Thr2334Pro) c.6955A>C (p.Thr2319Pro) c.6550A>C (p.Thr2184Pro) c.5908A>C (p.Thr1970Pro) c.3418A>C (p.Thr1140Pro) | |
10 | g.71798419A>G | CA377157838 | CDH23 | c.6895A>G (p.Thr2299Ala) c.828A>G (n.828A>G) c.492A>G (n.492A>G) c.6910A>G (p.Thr2304Ala) c.175A>G (p.Thr59Ala) n.431A>G c.7090A>G (p.Thr2364Ala) c.7024A>G (p.Thr2342Ala) c.7087A>G (p.Thr2363Ala) c.7084A>G (p.Thr2362Ala) c.7030A>G (p.Thr2344Ala) c.7000A>G (p.Thr2334Ala) c.6955A>G (p.Thr2319Ala) c.6550A>G (p.Thr2184Ala) c.5908A>G (p.Thr1970Ala) c.3418A>G (p.Thr1140Ala) | ClinVar dbSNP gnomAD v4 |
10 | g.71798419A>T | CA377157840 | CDH23 | c.6895A>T (p.Thr2299Ser) c.828A>T (n.828A>T) c.492A>T (n.492A>T) c.6910A>T (p.Thr2304Ser) c.175A>T (p.Thr59Ser) n.431A>T c.7090A>T (p.Thr2364Ser) c.7024A>T (p.Thr2342Ser) c.7087A>T (p.Thr2363Ser) c.7084A>T (p.Thr2362Ser) c.7030A>T (p.Thr2344Ser) c.7000A>T (p.Thr2334Ser) c.6955A>T (p.Thr2319Ser) c.6550A>T (p.Thr2184Ser) c.5908A>T (p.Thr1970Ser) c.3418A>T (p.Thr1140Ser) | |
10 | g.71798420C>A | CA377157843 | CDH23 | c.6896C>A (p.Thr2299Asn) c.829C>A (n.829C>A) c.493C>A (n.493C>A) c.6911C>A (p.Thr2304Asn) c.176C>A (p.Thr59Asn) n.432C>A c.7091C>A (p.Thr2364Asn) c.7025C>A (p.Thr2342Asn) c.7088C>A (p.Thr2363Asn) c.7085C>A (p.Thr2362Asn) c.7031C>A (p.Thr2344Asn) c.7001C>A (p.Thr2334Asn) c.6956C>A (p.Thr2319Asn) c.6551C>A (p.Thr2184Asn) c.5909C>A (p.Thr1970Asn) c.3419C>A (p.Thr1140Asn) | dbSNP |
10 | g.71798420C= | CA1918878432 | CDH23 | c.6896C= (p.Thr2299=) c.829C= (n.829C=) c.493C= (n.493C=) c.6911C= (p.Thr2304=) c.176C= (p.Thr59=) n.432C= c.7091C= (p.Thr2364=) c.7025C= (p.Thr2342=) c.7088C= (p.Thr2363=) c.7085C= (p.Thr2362=) c.7031C= (p.Thr2344=) c.7001C= (p.Thr2334=) c.6956C= (p.Thr2319=) c.6551C= (p.Thr2184=) c.5909C= (p.Thr1970=) c.3419C= (p.Thr1140=) | |
10 | g.71798420C>G | CA377157846 | CDH23 | c.6896C>G (p.Thr2299Ser) c.829C>G (n.829C>G) c.493C>G (n.493C>G) c.6911C>G (p.Thr2304Ser) c.176C>G (p.Thr59Ser) n.432C>G c.7091C>G (p.Thr2364Ser) c.7025C>G (p.Thr2342Ser) c.7088C>G (p.Thr2363Ser) c.7085C>G (p.Thr2362Ser) c.7031C>G (p.Thr2344Ser) c.7001C>G (p.Thr2334Ser) c.6956C>G (p.Thr2319Ser) c.6551C>G (p.Thr2184Ser) c.5909C>G (p.Thr1970Ser) c.3419C>G (p.Thr1140Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71798420C>T | CA377157844 | CDH23 | c.6896C>T (p.Thr2299Ile) c.829C>T (n.829C>T) c.493C>T (n.493C>T) c.6911C>T (p.Thr2304Ile) c.176C>T (p.Thr59Ile) n.432C>T c.7091C>T (p.Thr2364Ile) c.7025C>T (p.Thr2342Ile) c.7088C>T (p.Thr2363Ile) c.7085C>T (p.Thr2362Ile) c.7031C>T (p.Thr2344Ile) c.7001C>T (p.Thr2334Ile) c.6956C>T (p.Thr2319Ile) c.6551C>T (p.Thr2184Ile) c.5909C>T (p.Thr1970Ile) c.3419C>T (p.Thr1140Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798421C>A | CA470061999 | CDH23 | c.6897C>A (p.Thr2299=) c.830C>A (n.830C>A) c.494C>A (n.494C>A) c.6912C>A (p.Thr2304=) c.177C>A (p.Thr59=) n.433C>A c.7092C>A (p.Thr2364=) c.7026C>A (p.Thr2342=) c.7089C>A (p.Thr2363=) c.7086C>A (p.Thr2362=) c.7032C>A (p.Thr2344=) c.7002C>A (p.Thr2334=) c.6957C>A (p.Thr2319=) c.6552C>A (p.Thr2184=) c.5910C>A (p.Thr1970=) c.3420C>A (p.Thr1140=) | |
10 | g.71798421C>G | CA470061998 | CDH23 | c.6897C>G (p.Thr2299=) c.830C>G (n.830C>G) c.494C>G (n.494C>G) c.6912C>G (p.Thr2304=) c.177C>G (p.Thr59=) n.433C>G c.7092C>G (p.Thr2364=) c.7026C>G (p.Thr2342=) c.7089C>G (p.Thr2363=) c.7086C>G (p.Thr2362=) c.7032C>G (p.Thr2344=) c.7002C>G (p.Thr2334=) c.6957C>G (p.Thr2319=) c.6552C>G (p.Thr2184=) c.5910C>G (p.Thr1970=) c.3420C>G (p.Thr1140=) | |
10 | g.71798421C>T | CA470061997 | CDH23 | c.6897C>T (p.Thr2299=) c.830C>T (n.830C>T) c.494C>T (n.494C>T) c.6912C>T (p.Thr2304=) c.177C>T (p.Thr59=) n.433C>T c.7092C>T (p.Thr2364=) c.7026C>T (p.Thr2342=) c.7089C>T (p.Thr2363=) c.7086C>T (p.Thr2362=) c.7032C>T (p.Thr2344=) c.7002C>T (p.Thr2334=) c.6957C>T (p.Thr2319=) c.6552C>T (p.Thr2184=) c.5910C>T (p.Thr1970=) c.3420C>T (p.Thr1140=) | gnomAD v4 |
10 | g.71798422T>A | CA377157848 | CDH23 | c.6898T>A (p.Tyr2300Asn) c.831T>A (n.831T>A) c.495T>A (n.495T>A) c.6913T>A (p.Tyr2305Asn) c.178T>A (p.Tyr60Asn) n.434T>A c.7093T>A (p.Tyr2365Asn) c.7027T>A (p.Tyr2343Asn) c.7090T>A (p.Tyr2364Asn) c.7087T>A (p.Tyr2363Asn) c.7033T>A (p.Tyr2345Asn) c.7003T>A (p.Tyr2335Asn) c.6958T>A (p.Tyr2320Asn) c.6553T>A (p.Tyr2185Asn) c.5911T>A (p.Tyr1971Asn) c.3421T>A (p.Tyr1141Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798422T>C | CA5546218 | CDH23 | c.6898T>C (p.Tyr2300His) c.831T>C (n.831T>C) c.495T>C (n.495T>C) c.6913T>C (p.Tyr2305His) c.178T>C (p.Tyr60His) n.434T>C c.7093T>C (p.Tyr2365His) c.7027T>C (p.Tyr2343His) c.7090T>C (p.Tyr2364His) c.7087T>C (p.Tyr2363His) c.7033T>C (p.Tyr2345His) c.7003T>C (p.Tyr2335His) c.6958T>C (p.Tyr2320His) c.6553T>C (p.Tyr2185His) c.5911T>C (p.Tyr1971His) c.3421T>C (p.Tyr1141His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798422T>G | CA377157850 | CDH23 | c.6898T>G (p.Tyr2300Asp) c.831T>G (n.831T>G) c.495T>G (n.495T>G) c.6913T>G (p.Tyr2305Asp) c.178T>G (p.Tyr60Asp) n.434T>G c.7093T>G (p.Tyr2365Asp) c.7027T>G (p.Tyr2343Asp) c.7090T>G (p.Tyr2364Asp) c.7087T>G (p.Tyr2363Asp) c.7033T>G (p.Tyr2345Asp) c.7003T>G (p.Tyr2335Asp) c.6958T>G (p.Tyr2320Asp) c.6553T>G (p.Tyr2185Asp) c.5911T>G (p.Tyr1971Asp) c.3421T>G (p.Tyr1141Asp) | |
10 | g.71798422T= | CA1918878433 | CDH23 | c.6898T= (p.Tyr2300=) c.831T= (n.831T=) c.495T= (n.495T=) c.6913T= (p.Tyr2305=) c.178T= (p.Tyr60=) n.434T= c.7093T= (p.Tyr2365=) c.7027T= (p.Tyr2343=) c.7090T= (p.Tyr2364=) c.7087T= (p.Tyr2363=) c.7033T= (p.Tyr2345=) c.7003T= (p.Tyr2335=) c.6958T= (p.Tyr2320=) c.6553T= (p.Tyr2185=) c.5911T= (p.Tyr1971=) c.3421T= (p.Tyr1141=) | |
10 | g.71798423A>C | CA377157851 | CDH23 | c.6899A>C (p.Tyr2300Ser) c.832A>C (n.832A>C) c.496A>C (n.496A>C) c.6914A>C (p.Tyr2305Ser) c.179A>C (p.Tyr60Ser) n.435A>C c.7094A>C (p.Tyr2365Ser) c.7028A>C (p.Tyr2343Ser) c.7091A>C (p.Tyr2364Ser) c.7088A>C (p.Tyr2363Ser) c.7034A>C (p.Tyr2345Ser) c.7004A>C (p.Tyr2335Ser) c.6959A>C (p.Tyr2320Ser) c.6554A>C (p.Tyr2185Ser) c.5912A>C (p.Tyr1971Ser) c.3422A>C (p.Tyr1141Ser) | gnomAD v4 |
10 | g.71798423A>G | CA377157853 | CDH23 | c.6899A>G (p.Tyr2300Cys) c.832A>G (n.832A>G) c.496A>G (n.496A>G) c.6914A>G (p.Tyr2305Cys) c.179A>G (p.Tyr60Cys) n.435A>G c.7094A>G (p.Tyr2365Cys) c.7028A>G (p.Tyr2343Cys) c.7091A>G (p.Tyr2364Cys) c.7088A>G (p.Tyr2363Cys) c.7034A>G (p.Tyr2345Cys) c.7004A>G (p.Tyr2335Cys) c.6959A>G (p.Tyr2320Cys) c.6554A>G (p.Tyr2185Cys) c.5912A>G (p.Tyr1971Cys) c.3422A>G (p.Tyr1141Cys) | gnomAD v4 |
10 | g.71798423A>T | CA377157854 | CDH23 | c.6899A>T (p.Tyr2300Phe) c.832A>T (n.832A>T) c.496A>T (n.496A>T) c.6914A>T (p.Tyr2305Phe) c.179A>T (p.Tyr60Phe) n.435A>T c.7094A>T (p.Tyr2365Phe) c.7028A>T (p.Tyr2343Phe) c.7091A>T (p.Tyr2364Phe) c.7088A>T (p.Tyr2363Phe) c.7034A>T (p.Tyr2345Phe) c.7004A>T (p.Tyr2335Phe) c.6959A>T (p.Tyr2320Phe) c.6554A>T (p.Tyr2185Phe) c.5912A>T (p.Tyr1971Phe) c.3422A>T (p.Tyr1141Phe) | dbSNP |
10 | g.71798424C>A | CA377157856 | CDH23 | c.6900C>A (p.Tyr2300Ter) c.833C>A (n.833C>A) c.497C>A (n.497C>A) c.6915C>A (p.Tyr2305Ter) c.180C>A (p.Tyr60Ter) n.436C>A c.7095C>A (p.Tyr2365Ter) c.7029C>A (p.Tyr2343Ter) c.7092C>A (p.Tyr2364Ter) c.7089C>A (p.Tyr2363Ter) c.7035C>A (p.Tyr2345Ter) c.7005C>A (p.Tyr2335Ter) c.6960C>A (p.Tyr2320Ter) c.6555C>A (p.Tyr2185Ter) c.5913C>A (p.Tyr1971Ter) c.3423C>A (p.Tyr1141Ter) | |
10 | g.71798424C= | CA1918878434 | CDH23 | c.6900C= (p.Tyr2300=) c.833C= (n.833C=) c.497C= (n.497C=) c.6915C= (p.Tyr2305=) c.180C= (p.Tyr60=) n.436C= c.7095C= (p.Tyr2365=) c.7029C= (p.Tyr2343=) c.7092C= (p.Tyr2364=) c.7089C= (p.Tyr2363=) c.7035C= (p.Tyr2345=) c.7005C= (p.Tyr2335=) c.6960C= (p.Tyr2320=) c.6555C= (p.Tyr2185=) c.5913C= (p.Tyr1971=) c.3423C= (p.Tyr1141=) | |
10 | g.71798424C>G | CA377157857 | CDH23 | c.6900C>G (p.Tyr2300Ter) c.833C>G (n.833C>G) c.497C>G (n.497C>G) c.6915C>G (p.Tyr2305Ter) c.180C>G (p.Tyr60Ter) n.436C>G c.7095C>G (p.Tyr2365Ter) c.7029C>G (p.Tyr2343Ter) c.7092C>G (p.Tyr2364Ter) c.7089C>G (p.Tyr2363Ter) c.7035C>G (p.Tyr2345Ter) c.7005C>G (p.Tyr2335Ter) c.6960C>G (p.Tyr2320Ter) c.6555C>G (p.Tyr2185Ter) c.5913C>G (p.Tyr1971Ter) c.3423C>G (p.Tyr1141Ter) | gnomAD v4 |
10 | g.71798424C>T | CA470062000 | CDH23 | c.6900C>T (p.Tyr2300=) c.833C>T (n.833C>T) c.497C>T (n.497C>T) c.6915C>T (p.Tyr2305=) c.180C>T (p.Tyr60=) n.436C>T c.7095C>T (p.Tyr2365=) c.7029C>T (p.Tyr2343=) c.7092C>T (p.Tyr2364=) c.7089C>T (p.Tyr2363=) c.7035C>T (p.Tyr2345=) c.7005C>T (p.Tyr2335=) c.6960C>T (p.Tyr2320=) c.6555C>T (p.Tyr2185=) c.5913C>T (p.Tyr1971=) c.3423C>T (p.Tyr1141=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798425T>A | CA377157859 | CDH23 | c.6901T>A (p.Tyr2301Asn) c.834T>A (n.834T>A) c.498T>A (n.498T>A) c.6916T>A (p.Tyr2306Asn) c.181T>A (p.Tyr61Asn) n.437T>A c.7096T>A (p.Tyr2366Asn) c.7030T>A (p.Tyr2344Asn) c.7093T>A (p.Tyr2365Asn) c.7090T>A (p.Tyr2364Asn) c.7036T>A (p.Tyr2346Asn) c.7006T>A (p.Tyr2336Asn) c.6961T>A (p.Tyr2321Asn) c.6556T>A (p.Tyr2186Asn) c.5914T>A (p.Tyr1972Asn) c.3424T>A (p.Tyr1142Asn) | |
10 | g.71798425T>C | CA5546219 | CDH23 | c.6901T>C (p.Tyr2301His) c.834T>C (n.834T>C) c.498T>C (n.498T>C) c.6916T>C (p.Tyr2306His) c.181T>C (p.Tyr61His) n.437T>C c.7096T>C (p.Tyr2366His) c.7030T>C (p.Tyr2344His) c.7093T>C (p.Tyr2365His) c.7090T>C (p.Tyr2364His) c.7036T>C (p.Tyr2346His) c.7006T>C (p.Tyr2336His) c.6961T>C (p.Tyr2321His) c.6556T>C (p.Tyr2186His) c.5914T>C (p.Tyr1972His) c.3424T>C (p.Tyr1142His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798425T>G | CA377157861 | CDH23 | c.6901T>G (p.Tyr2301Asp) c.834T>G (n.834T>G) c.498T>G (n.498T>G) c.6916T>G (p.Tyr2306Asp) c.181T>G (p.Tyr61Asp) n.437T>G c.7096T>G (p.Tyr2366Asp) c.7030T>G (p.Tyr2344Asp) c.7093T>G (p.Tyr2365Asp) c.7090T>G (p.Tyr2364Asp) c.7036T>G (p.Tyr2346Asp) c.7006T>G (p.Tyr2336Asp) c.6961T>G (p.Tyr2321Asp) c.6556T>G (p.Tyr2186Asp) c.5914T>G (p.Tyr1972Asp) c.3424T>G (p.Tyr1142Asp) | |
10 | g.71798425T= | CA1918878435 | CDH23 | c.6901T= (p.Tyr2301=) c.834T= (n.834T=) c.498T= (n.498T=) c.6916T= (p.Tyr2306=) c.181T= (p.Tyr61=) n.437T= c.7096T= (p.Tyr2366=) c.7030T= (p.Tyr2344=) c.7093T= (p.Tyr2365=) c.7090T= (p.Tyr2364=) c.7036T= (p.Tyr2346=) c.7006T= (p.Tyr2336=) c.6961T= (p.Tyr2321=) c.6556T= (p.Tyr2186=) c.5914T= (p.Tyr1972=) c.3424T= (p.Tyr1142=) | |
10 | g.71798426A= | CA1918878436 | CDH23 | c.6902A= (p.Tyr2301=) c.835A= (n.835A=) c.499A= (n.499A=) c.6917A= (p.Tyr2306=) c.182A= (p.Tyr61=) n.438A= c.7097A= (p.Tyr2366=) c.7031A= (p.Tyr2344=) c.7094A= (p.Tyr2365=) c.7091A= (p.Tyr2364=) c.7037A= (p.Tyr2346=) c.7007A= (p.Tyr2336=) c.6962A= (p.Tyr2321=) c.6557A= (p.Tyr2186=) c.5915A= (p.Tyr1972=) c.3425A= (p.Tyr1142=) | |
10 | g.71798426A>C | CA377157863 | CDH23 | c.6902A>C (p.Tyr2301Ser) c.835A>C (n.835A>C) c.499A>C (n.499A>C) c.6917A>C (p.Tyr2306Ser) c.182A>C (p.Tyr61Ser) n.438A>C c.7097A>C (p.Tyr2366Ser) c.7031A>C (p.Tyr2344Ser) c.7094A>C (p.Tyr2365Ser) c.7091A>C (p.Tyr2364Ser) c.7037A>C (p.Tyr2346Ser) c.7007A>C (p.Tyr2336Ser) c.6962A>C (p.Tyr2321Ser) c.6557A>C (p.Tyr2186Ser) c.5915A>C (p.Tyr1972Ser) c.3425A>C (p.Tyr1142Ser) | |
10 | g.71798426A>G | CA377157865 | CDH23 | c.6902A>G (p.Tyr2301Cys) c.835A>G (n.835A>G) c.499A>G (n.499A>G) c.6917A>G (p.Tyr2306Cys) c.182A>G (p.Tyr61Cys) n.438A>G c.7097A>G (p.Tyr2366Cys) c.7031A>G (p.Tyr2344Cys) c.7094A>G (p.Tyr2365Cys) c.7091A>G (p.Tyr2364Cys) c.7037A>G (p.Tyr2346Cys) c.7007A>G (p.Tyr2336Cys) c.6962A>G (p.Tyr2321Cys) c.6557A>G (p.Tyr2186Cys) c.5915A>G (p.Tyr1972Cys) c.3425A>G (p.Tyr1142Cys) | dbSNP |
10 | g.71798426A>T | CA377157866 | CDH23 | c.6902A>T (p.Tyr2301Phe) c.835A>T (n.835A>T) c.499A>T (n.499A>T) c.6917A>T (p.Tyr2306Phe) c.182A>T (p.Tyr61Phe) n.438A>T c.7097A>T (p.Tyr2366Phe) c.7031A>T (p.Tyr2344Phe) c.7094A>T (p.Tyr2365Phe) c.7091A>T (p.Tyr2364Phe) c.7037A>T (p.Tyr2346Phe) c.7007A>T (p.Tyr2336Phe) c.6962A>T (p.Tyr2321Phe) c.6557A>T (p.Tyr2186Phe) c.5915A>T (p.Tyr1972Phe) c.3425A>T (p.Tyr1142Phe) | |
10 | g.71798427C>A | CA377157867 | CDH23 | c.6903C>A (p.Tyr2301Ter) c.836C>A (n.836C>A) c.500C>A (n.500C>A) c.6918C>A (p.Tyr2306Ter) c.183C>A (p.Tyr61Ter) n.439C>A c.7098C>A (p.Tyr2366Ter) c.7032C>A (p.Tyr2344Ter) c.7095C>A (p.Tyr2365Ter) c.7092C>A (p.Tyr2364Ter) c.7038C>A (p.Tyr2346Ter) c.7008C>A (p.Tyr2336Ter) c.6963C>A (p.Tyr2321Ter) c.6558C>A (p.Tyr2186Ter) c.5916C>A (p.Tyr1972Ter) c.3426C>A (p.Tyr1142Ter) | |
10 | g.71798427C>G | CA377157869 | CDH23 | c.6903C>G (p.Tyr2301Ter) c.836C>G (n.836C>G) c.500C>G (n.500C>G) c.6918C>G (p.Tyr2306Ter) c.183C>G (p.Tyr61Ter) n.439C>G c.7098C>G (p.Tyr2366Ter) c.7032C>G (p.Tyr2344Ter) c.7095C>G (p.Tyr2365Ter) c.7092C>G (p.Tyr2364Ter) c.7038C>G (p.Tyr2346Ter) c.7008C>G (p.Tyr2336Ter) c.6963C>G (p.Tyr2321Ter) c.6558C>G (p.Tyr2186Ter) c.5916C>G (p.Tyr1972Ter) c.3426C>G (p.Tyr1142Ter) | |
10 | g.71798427C>T | CA470062002 | CDH23 | c.6903C>T (p.Tyr2301=) c.836C>T (n.836C>T) c.500C>T (n.500C>T) c.6918C>T (p.Tyr2306=) c.183C>T (p.Tyr61=) n.439C>T c.7098C>T (p.Tyr2366=) c.7032C>T (p.Tyr2344=) c.7095C>T (p.Tyr2365=) c.7092C>T (p.Tyr2364=) c.7038C>T (p.Tyr2346=) c.7008C>T (p.Tyr2336=) c.6963C>T (p.Tyr2321=) c.6558C>T (p.Tyr2186=) c.5916C>T (p.Tyr1972=) c.3426C>T (p.Tyr1142=) | |
10 | g.71798428A>C | CA377157871 | CDH23 | c.6904A>C (p.Met2302Leu) c.837A>C (n.837A>C) c.501A>C (n.501A>C) c.6919A>C (p.Met2307Leu) c.184A>C (p.Met62Leu) n.440A>C c.7099A>C (p.Met2367Leu) c.7033A>C (p.Met2345Leu) c.7096A>C (p.Met2366Leu) c.7093A>C (p.Met2365Leu) c.7039A>C (p.Met2347Leu) c.7009A>C (p.Met2337Leu) c.6964A>C (p.Met2322Leu) c.6559A>C (p.Met2187Leu) c.5917A>C (p.Met1973Leu) c.3427A>C (p.Met1143Leu) | |
10 | g.71798428A>G | CA377157872 | CDH23 | c.6904A>G (p.Met2302Val) c.837A>G (n.837A>G) c.501A>G (n.501A>G) c.6919A>G (p.Met2307Val) c.184A>G (p.Met62Val) n.440A>G c.7099A>G (p.Met2367Val) c.7033A>G (p.Met2345Val) c.7096A>G (p.Met2366Val) c.7093A>G (p.Met2365Val) c.7039A>G (p.Met2347Val) c.7009A>G (p.Met2337Val) c.6964A>G (p.Met2322Val) c.6559A>G (p.Met2187Val) c.5917A>G (p.Met1973Val) c.3427A>G (p.Met1143Val) | |
10 | g.71798428A>T | CA377157874 | CDH23 | c.6904A>T (p.Met2302Leu) c.837A>T (n.837A>T) c.501A>T (n.501A>T) c.6919A>T (p.Met2307Leu) c.184A>T (p.Met62Leu) n.440A>T c.7099A>T (p.Met2367Leu) c.7033A>T (p.Met2345Leu) c.7096A>T (p.Met2366Leu) c.7093A>T (p.Met2365Leu) c.7039A>T (p.Met2347Leu) c.7009A>T (p.Met2337Leu) c.6964A>T (p.Met2322Leu) c.6559A>T (p.Met2187Leu) c.5917A>T (p.Met1973Leu) c.3427A>T (p.Met1143Leu) | |
10 | g.71798429T>A | CA377157876 | CDH23 | c.6905T>A (p.Met2302Lys) c.838T>A (n.838T>A) c.502T>A (n.502T>A) c.6920T>A (p.Met2307Lys) c.185T>A (p.Met62Lys) n.441T>A c.7100T>A (p.Met2367Lys) c.7034T>A (p.Met2345Lys) c.7097T>A (p.Met2366Lys) c.7094T>A (p.Met2365Lys) c.7040T>A (p.Met2347Lys) c.7010T>A (p.Met2337Lys) c.6965T>A (p.Met2322Lys) c.6560T>A (p.Met2187Lys) c.5918T>A (p.Met1973Lys) c.3428T>A (p.Met1143Lys) | |
10 | g.71798429T>C | CA377157877 | CDH23 | c.6905T>C (p.Met2302Thr) c.838T>C (n.838T>C) c.502T>C (n.502T>C) c.6920T>C (p.Met2307Thr) c.185T>C (p.Met62Thr) n.441T>C c.7100T>C (p.Met2367Thr) c.7034T>C (p.Met2345Thr) c.7097T>C (p.Met2366Thr) c.7094T>C (p.Met2365Thr) c.7040T>C (p.Met2347Thr) c.7010T>C (p.Met2337Thr) c.6965T>C (p.Met2322Thr) c.6560T>C (p.Met2187Thr) c.5918T>C (p.Met1973Thr) c.3428T>C (p.Met1143Thr) | |
10 | g.71798429T>G | CA377157879 | CDH23 | c.6905T>G (p.Met2302Arg) c.838T>G (n.838T>G) c.502T>G (n.502T>G) c.6920T>G (p.Met2307Arg) c.185T>G (p.Met62Arg) n.441T>G c.7100T>G (p.Met2367Arg) c.7034T>G (p.Met2345Arg) c.7097T>G (p.Met2366Arg) c.7094T>G (p.Met2365Arg) c.7040T>G (p.Met2347Arg) c.7010T>G (p.Met2337Arg) c.6965T>G (p.Met2322Arg) c.6560T>G (p.Met2187Arg) c.5918T>G (p.Met1973Arg) c.3428T>G (p.Met1143Arg) | |
10 | g.71798430G>A | CA377157881 | CDH23 | c.6906G>A (p.Met2302Ile) c.839G>A (n.839G>A) c.503G>A (n.503G>A) c.6921G>A (p.Met2307Ile) c.186G>A (p.Met62Ile) n.442G>A c.7101G>A (p.Met2367Ile) c.7035G>A (p.Met2345Ile) c.7098G>A (p.Met2366Ile) c.7095G>A (p.Met2365Ile) c.7041G>A (p.Met2347Ile) c.7011G>A (p.Met2337Ile) c.6966G>A (p.Met2322Ile) c.6561G>A (p.Met2187Ile) c.5919G>A (p.Met1973Ile) c.3429G>A (p.Met1143Ile) | gnomAD v4 |
10 | g.71798430G>C | CA377157882 | CDH23 | c.6906G>C (p.Met2302Ile) c.839G>C (n.839G>C) c.503G>C (n.503G>C) c.6921G>C (p.Met2307Ile) c.186G>C (p.Met62Ile) n.442G>C c.7101G>C (p.Met2367Ile) c.7035G>C (p.Met2345Ile) c.7098G>C (p.Met2366Ile) c.7095G>C (p.Met2365Ile) c.7041G>C (p.Met2347Ile) c.7011G>C (p.Met2337Ile) c.6966G>C (p.Met2322Ile) c.6561G>C (p.Met2187Ile) c.5919G>C (p.Met1973Ile) c.3429G>C (p.Met1143Ile) | |
10 | g.71798430G>T | CA377157884 | CDH23 | c.6906G>T (p.Met2302Ile) c.839G>T (n.839G>T) c.503G>T (n.503G>T) c.6921G>T (p.Met2307Ile) c.186G>T (p.Met62Ile) n.442G>T c.7101G>T (p.Met2367Ile) c.7035G>T (p.Met2345Ile) c.7098G>T (p.Met2366Ile) c.7095G>T (p.Met2365Ile) c.7041G>T (p.Met2347Ile) c.7011G>T (p.Met2337Ile) c.6966G>T (p.Met2322Ile) c.6561G>T (p.Met2187Ile) c.5919G>T (p.Met1973Ile) c.3429G>T (p.Met1143Ile) | |
10 | g.71798431G>A | CA377157886 | CDH23 | c.6907G>A (p.Glu2303Lys) c.840G>A (n.840G>A) c.504G>A (n.504G>A) c.6922G>A (p.Glu2308Lys) c.187G>A (p.Glu63Lys) n.443G>A c.7102G>A (p.Glu2368Lys) c.7036G>A (p.Glu2346Lys) c.7099G>A (p.Glu2367Lys) c.7096G>A (p.Glu2366Lys) c.7042G>A (p.Glu2348Lys) c.7012G>A (p.Glu2338Lys) c.6967G>A (p.Glu2323Lys) c.6562G>A (p.Glu2188Lys) c.5920G>A (p.Glu1974Lys) c.3430G>A (p.Glu1144Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798431G>C | CA377157887 | CDH23 | c.6907G>C (p.Glu2303Gln) c.840G>C (n.840G>C) c.504G>C (n.504G>C) c.6922G>C (p.Glu2308Gln) c.187G>C (p.Glu63Gln) n.443G>C c.7102G>C (p.Glu2368Gln) c.7036G>C (p.Glu2346Gln) c.7099G>C (p.Glu2367Gln) c.7096G>C (p.Glu2366Gln) c.7042G>C (p.Glu2348Gln) c.7012G>C (p.Glu2338Gln) c.6967G>C (p.Glu2323Gln) c.6562G>C (p.Glu2188Gln) c.5920G>C (p.Glu1974Gln) c.3430G>C (p.Glu1144Gln) | dbSNP |
10 | g.71798431G= | CA1918878437 | CDH23 | c.6907G= (p.Glu2303=) c.840G= (n.840G=) c.504G= (n.504G=) c.6922G= (p.Glu2308=) c.187G= (p.Glu63=) n.443G= c.7102G= (p.Glu2368=) c.7036G= (p.Glu2346=) c.7099G= (p.Glu2367=) c.7096G= (p.Glu2366=) c.7042G= (p.Glu2348=) c.7012G= (p.Glu2338=) c.6967G= (p.Glu2323=) c.6562G= (p.Glu2188=) c.5920G= (p.Glu1974=) c.3430G= (p.Glu1144=) | |
10 | g.71798431G>T | CA377157888 | CDH23 | c.6907G>T (p.Glu2303Ter) c.840G>T (n.840G>T) c.504G>T (n.504G>T) c.6922G>T (p.Glu2308Ter) c.187G>T (p.Glu63Ter) n.443G>T c.7102G>T (p.Glu2368Ter) c.7036G>T (p.Glu2346Ter) c.7099G>T (p.Glu2367Ter) c.7096G>T (p.Glu2366Ter) c.7042G>T (p.Glu2348Ter) c.7012G>T (p.Glu2338Ter) c.6967G>T (p.Glu2323Ter) c.6562G>T (p.Glu2188Ter) c.5920G>T (p.Glu1974Ter) c.3430G>T (p.Glu1144Ter) | |
10 | g.71798432A= | CA1918878438 | CDH23 | c.6908A= (p.Glu2303=) c.841A= (n.841A=) c.505A= (n.505A=) c.6923A= (p.Glu2308=) c.188A= (p.Glu63=) n.444A= c.7103A= (p.Glu2368=) c.7037A= (p.Glu2346=) c.7100A= (p.Glu2367=) c.7097A= (p.Glu2366=) c.7043A= (p.Glu2348=) c.7013A= (p.Glu2338=) c.6968A= (p.Glu2323=) c.6563A= (p.Glu2188=) c.5921A= (p.Glu1974=) c.3431A= (p.Glu1144=) | |
10 | g.71798432A>C | CA377157890 | CDH23 | c.6908A>C (p.Glu2303Ala) c.841A>C (n.841A>C) c.505A>C (n.505A>C) c.6923A>C (p.Glu2308Ala) c.188A>C (p.Glu63Ala) n.444A>C c.7103A>C (p.Glu2368Ala) c.7037A>C (p.Glu2346Ala) c.7100A>C (p.Glu2367Ala) c.7097A>C (p.Glu2366Ala) c.7043A>C (p.Glu2348Ala) c.7013A>C (p.Glu2338Ala) c.6968A>C (p.Glu2323Ala) c.6563A>C (p.Glu2188Ala) c.5921A>C (p.Glu1974Ala) c.3431A>C (p.Glu1144Ala) | |
10 | g.71798432A>G | CA377157894 | CDH23 | c.6908A>G (p.Glu2303Gly) c.841A>G (n.841A>G) c.505A>G (n.505A>G) c.6923A>G (p.Glu2308Gly) c.188A>G (p.Glu63Gly) n.444A>G c.7103A>G (p.Glu2368Gly) c.7037A>G (p.Glu2346Gly) c.7100A>G (p.Glu2367Gly) c.7097A>G (p.Glu2366Gly) c.7043A>G (p.Glu2348Gly) c.7013A>G (p.Glu2338Gly) c.6968A>G (p.Glu2323Gly) c.6563A>G (p.Glu2188Gly) c.5921A>G (p.Glu1974Gly) c.3431A>G (p.Glu1144Gly) | dbSNP |
10 | g.71798432A>T | CA377157892 | CDH23 | c.6908A>T (p.Glu2303Val) c.841A>T (n.841A>T) c.505A>T (n.505A>T) c.6923A>T (p.Glu2308Val) c.188A>T (p.Glu63Val) n.444A>T c.7103A>T (p.Glu2368Val) c.7037A>T (p.Glu2346Val) c.7100A>T (p.Glu2367Val) c.7097A>T (p.Glu2366Val) c.7043A>T (p.Glu2348Val) c.7013A>T (p.Glu2338Val) c.6968A>T (p.Glu2323Val) c.6563A>T (p.Glu2188Val) c.5921A>T (p.Glu1974Val) c.3431A>T (p.Glu1144Val) | |
10 | g.71798433G>A | CA470062003 | CDH23 | c.6909G>A (p.Glu2303=) c.842G>A (n.842G>A) c.506G>A (n.506G>A) c.6924G>A (p.Glu2308=) c.189G>A (p.Glu63=) n.445G>A c.7104G>A (p.Glu2368=) c.7038G>A (p.Glu2346=) c.7101G>A (p.Glu2367=) c.7098G>A (p.Glu2366=) c.7044G>A (p.Glu2348=) c.7014G>A (p.Glu2338=) c.6969G>A (p.Glu2323=) c.6564G>A (p.Glu2188=) c.5922G>A (p.Glu1974=) c.3432G>A (p.Glu1144=) | ClinVar dbSNP |
10 | g.71798433G>C | CA377157895 | CDH23 | c.6909G>C (p.Glu2303Asp) c.842G>C (n.842G>C) c.506G>C (n.506G>C) c.6924G>C (p.Glu2308Asp) c.189G>C (p.Glu63Asp) n.445G>C c.7104G>C (p.Glu2368Asp) c.7038G>C (p.Glu2346Asp) c.7101G>C (p.Glu2367Asp) c.7098G>C (p.Glu2366Asp) c.7044G>C (p.Glu2348Asp) c.7014G>C (p.Glu2338Asp) c.6969G>C (p.Glu2323Asp) c.6564G>C (p.Glu2188Asp) c.5922G>C (p.Glu1974Asp) c.3432G>C (p.Glu1144Asp) | |
10 | g.71798433G>T | CA377157896 | CDH23 | c.6909G>T (p.Glu2303Asp) c.842G>T (n.842G>T) c.506G>T (n.506G>T) c.6924G>T (p.Glu2308Asp) c.189G>T (p.Glu63Asp) n.445G>T c.7104G>T (p.Glu2368Asp) c.7038G>T (p.Glu2346Asp) c.7101G>T (p.Glu2367Asp) c.7098G>T (p.Glu2366Asp) c.7044G>T (p.Glu2348Asp) c.7014G>T (p.Glu2338Asp) c.6969G>T (p.Glu2323Asp) c.6564G>T (p.Glu2188Asp) c.5922G>T (p.Glu1974Asp) c.3432G>T (p.Glu1144Asp) | gnomAD v4 |
10 | g.71798434C>A | CA470062004 | CDH23 | c.6910C>A (p.Arg2304=) c.843C>A (n.843C>A) c.507C>A (n.507C>A) c.6925C>A (p.Arg2309=) c.190C>A (p.Arg64=) n.446C>A c.7105C>A (p.Arg2369=) c.7039C>A (p.Arg2347=) c.7102C>A (p.Arg2368=) c.7099C>A (p.Arg2367=) c.7045C>A (p.Arg2349=) c.7015C>A (p.Arg2339=) c.6970C>A (p.Arg2324=) c.6565C>A (p.Arg2189=) c.5923C>A (p.Arg1975=) c.3433C>A (p.Arg1145=) | |
10 | g.71798434C= | CA1918878439 | CDH23 | c.6910C= (p.Arg2304=) c.843C= (n.843C=) c.507C= (n.507C=) c.6925C= (p.Arg2309=) c.190C= (p.Arg64=) n.446C= c.7105C= (p.Arg2369=) c.7039C= (p.Arg2347=) c.7102C= (p.Arg2368=) c.7099C= (p.Arg2367=) c.7045C= (p.Arg2349=) c.7015C= (p.Arg2339=) c.6970C= (p.Arg2324=) c.6565C= (p.Arg2189=) c.5923C= (p.Arg1975=) c.3433C= (p.Arg1145=) | |
10 | g.71798434C>G | CA377157898 | CDH23 | c.6910C>G (p.Arg2304Gly) c.843C>G (n.843C>G) c.507C>G (n.507C>G) c.6925C>G (p.Arg2309Gly) c.190C>G (p.Arg64Gly) n.446C>G c.7105C>G (p.Arg2369Gly) c.7039C>G (p.Arg2347Gly) c.7102C>G (p.Arg2368Gly) c.7099C>G (p.Arg2367Gly) c.7045C>G (p.Arg2349Gly) c.7015C>G (p.Arg2339Gly) c.6970C>G (p.Arg2324Gly) c.6565C>G (p.Arg2189Gly) c.5923C>G (p.Arg1975Gly) c.3433C>G (p.Arg1145Gly) | gnomAD v4 |
10 | g.71798434C>T | CA377157900 | CDH23 | c.6910C>T (p.Arg2304Trp) c.843C>T (n.843C>T) c.507C>T (n.507C>T) c.6925C>T (p.Arg2309Trp) c.190C>T (p.Arg64Trp) n.446C>T c.7105C>T (p.Arg2369Trp) c.7039C>T (p.Arg2347Trp) c.7102C>T (p.Arg2368Trp) c.7099C>T (p.Arg2367Trp) c.7045C>T (p.Arg2349Trp) c.7015C>T (p.Arg2339Trp) c.6970C>T (p.Arg2324Trp) c.6565C>T (p.Arg2189Trp) c.5923C>T (p.Arg1975Trp) c.3433C>T (p.Arg1145Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.71798435G>A | CA137554 | CDH23 | c.6911G>A (p.Arg2304Gln) c.844G>A (n.844G>A) c.508G>A (n.508G>A) c.6926G>A (p.Arg2309Gln) c.191G>A (p.Arg64Gln) n.447G>A c.7106G>A (p.Arg2369Gln) c.7040G>A (p.Arg2347Gln) c.7103G>A (p.Arg2368Gln) c.7100G>A (p.Arg2367Gln) c.7046G>A (p.Arg2349Gln) c.7016G>A (p.Arg2339Gln) c.6971G>A (p.Arg2324Gln) c.6566G>A (p.Arg2189Gln) c.5924G>A (p.Arg1975Gln) c.3434G>A (p.Arg1145Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71798435G>C | CA377157902 | CDH23 | c.6911G>C (p.Arg2304Pro) c.844G>C (n.844G>C) c.508G>C (n.508G>C) c.6926G>C (p.Arg2309Pro) c.191G>C (p.Arg64Pro) n.447G>C c.7106G>C (p.Arg2369Pro) c.7040G>C (p.Arg2347Pro) c.7103G>C (p.Arg2368Pro) c.7100G>C (p.Arg2367Pro) c.7046G>C (p.Arg2349Pro) c.7016G>C (p.Arg2339Pro) c.6971G>C (p.Arg2324Pro) c.6566G>C (p.Arg2189Pro) c.5924G>C (p.Arg1975Pro) c.3434G>C (p.Arg1145Pro) | |
10 | g.71798435G= | CA1918878440 | CDH23 | c.6911G= (p.Arg2304=) c.844G= (n.844G=) c.508G= (n.508G=) c.6926G= (p.Arg2309=) c.191G= (p.Arg64=) n.447G= c.7106G= (p.Arg2369=) c.7040G= (p.Arg2347=) c.7103G= (p.Arg2368=) c.7100G= (p.Arg2367=) c.7046G= (p.Arg2349=) c.7016G= (p.Arg2339=) c.6971G= (p.Arg2324=) c.6566G= (p.Arg2189=) c.5924G= (p.Arg1975=) c.3434G= (p.Arg1145=) | |
10 | g.71798435G>T | CA377157903 | CDH23 | c.6911G>T (p.Arg2304Leu) c.844G>T (n.844G>T) c.508G>T (n.508G>T) c.6926G>T (p.Arg2309Leu) c.191G>T (p.Arg64Leu) n.447G>T c.7106G>T (p.Arg2369Leu) c.7040G>T (p.Arg2347Leu) c.7103G>T (p.Arg2368Leu) c.7100G>T (p.Arg2367Leu) c.7046G>T (p.Arg2349Leu) c.7016G>T (p.Arg2339Leu) c.6971G>T (p.Arg2324Leu) c.6566G>T (p.Arg2189Leu) c.5924G>T (p.Arg1975Leu) c.3434G>T (p.Arg1145Leu) | |
10 | g.71798436del | CA2609587785 | CDH23 | c.6912del (p.Ile2305SerfsTer?) c.845del (n.845del) c.509del (n.509del) c.6927del (p.Ile2310SerfsTer?) c.192del (p.Ile65SerfsTer?) n.448del c.7107del (p.Ile2370SerfsTer?) c.7041del (p.Ile2348SerfsTer?) c.7104del (p.Ile2369SerfsTer?) c.7101del (p.Ile2368SerfsTer?) c.7047del (p.Ile2350SerfsTer?) c.7017del (p.Ile2340SerfsTer?) c.6972del (p.Ile2325SerfsTer?) c.6567del (p.Ile2190SerfsTer?) c.5925del (p.Ile1976SerfsTer?) c.3435del (p.Ile1146SerfsTer?) | gnomAD v4 |
10 | g.71798436G>A | CA470062005 | CDH23 | c.6912G>A (p.Arg2304=) c.845G>A (n.845G>A) c.509G>A (n.509G>A) c.6927G>A (p.Arg2309=) c.192G>A (p.Arg64=) n.448G>A c.7107G>A (p.Arg2369=) c.7041G>A (p.Arg2347=) c.7104G>A (p.Arg2368=) c.7101G>A (p.Arg2367=) c.7047G>A (p.Arg2349=) c.7017G>A (p.Arg2339=) c.6972G>A (p.Arg2324=) c.6567G>A (p.Arg2189=) c.5925G>A (p.Arg1975=) c.3435G>A (p.Arg1145=) | |
10 | g.71798436G>C | CA470062006 | CDH23 | c.6912G>C (p.Arg2304=) c.845G>C (n.845G>C) c.509G>C (n.509G>C) c.6927G>C (p.Arg2309=) c.192G>C (p.Arg64=) n.448G>C c.7107G>C (p.Arg2369=) c.7041G>C (p.Arg2347=) c.7104G>C (p.Arg2368=) c.7101G>C (p.Arg2367=) c.7047G>C (p.Arg2349=) c.7017G>C (p.Arg2339=) c.6972G>C (p.Arg2324=) c.6567G>C (p.Arg2189=) c.5925G>C (p.Arg1975=) c.3435G>C (p.Arg1145=) | |
10 | g.71798436G>T | CA470062007 | CDH23 | c.6912G>T (p.Arg2304=) c.845G>T (n.845G>T) c.509G>T (n.509G>T) c.6927G>T (p.Arg2309=) c.192G>T (p.Arg64=) n.448G>T c.7107G>T (p.Arg2369=) c.7041G>T (p.Arg2347=) c.7104G>T (p.Arg2368=) c.7101G>T (p.Arg2367=) c.7047G>T (p.Arg2349=) c.7017G>T (p.Arg2339=) c.6972G>T (p.Arg2324=) c.6567G>T (p.Arg2189=) c.5925G>T (p.Arg1975=) c.3435G>T (p.Arg1145=) | |
10 | g.71798437A>C | CA377157905 | CDH23 | c.6913A>C (p.Ile2305Leu) c.846A>C (n.846A>C) c.510A>C (n.510A>C) c.6928A>C (p.Ile2310Leu) c.193A>C (p.Ile65Leu) n.449A>C c.7108A>C (p.Ile2370Leu) c.7042A>C (p.Ile2348Leu) c.7105A>C (p.Ile2369Leu) c.7102A>C (p.Ile2368Leu) c.7048A>C (p.Ile2350Leu) c.7018A>C (p.Ile2340Leu) c.6973A>C (p.Ile2325Leu) c.6568A>C (p.Ile2190Leu) c.5926A>C (p.Ile1976Leu) c.3436A>C (p.Ile1146Leu) | |
10 | g.71798437A>G | CA377157907 | CDH23 | c.6913A>G (p.Ile2305Val) c.846A>G (n.846A>G) c.510A>G (n.510A>G) c.6928A>G (p.Ile2310Val) c.193A>G (p.Ile65Val) n.449A>G c.7108A>G (p.Ile2370Val) c.7042A>G (p.Ile2348Val) c.7105A>G (p.Ile2369Val) c.7102A>G (p.Ile2368Val) c.7048A>G (p.Ile2350Val) c.7018A>G (p.Ile2340Val) c.6973A>G (p.Ile2325Val) c.6568A>G (p.Ile2190Val) c.5926A>G (p.Ile1976Val) c.3436A>G (p.Ile1146Val) | |
10 | g.71798437A>T | CA377157909 | CDH23 | c.6913A>T (p.Ile2305Phe) c.846A>T (n.846A>T) c.510A>T (n.510A>T) c.6928A>T (p.Ile2310Phe) c.193A>T (p.Ile65Phe) n.449A>T c.7108A>T (p.Ile2370Phe) c.7042A>T (p.Ile2348Phe) c.7105A>T (p.Ile2369Phe) c.7102A>T (p.Ile2368Phe) c.7048A>T (p.Ile2350Phe) c.7018A>T (p.Ile2340Phe) c.6973A>T (p.Ile2325Phe) c.6568A>T (p.Ile2190Phe) c.5926A>T (p.Ile1976Phe) c.3436A>T (p.Ile1146Phe) | |
10 | g.71798438T>A | CA377157913 | CDH23 | c.6914T>A (p.Ile2305Asn) c.847T>A (n.847T>A) c.511T>A (n.511T>A) c.6929T>A (p.Ile2310Asn) c.194T>A (p.Ile65Asn) n.450T>A c.7109T>A (p.Ile2370Asn) c.7043T>A (p.Ile2348Asn) c.7106T>A (p.Ile2369Asn) c.7103T>A (p.Ile2368Asn) c.7049T>A (p.Ile2350Asn) c.7019T>A (p.Ile2340Asn) c.6974T>A (p.Ile2325Asn) c.6569T>A (p.Ile2190Asn) c.5927T>A (p.Ile1976Asn) c.3437T>A (p.Ile1146Asn) | |
10 | g.71798438T>C | CA377157911 | CDH23 | c.6914T>C (p.Ile2305Thr) c.847T>C (n.847T>C) c.511T>C (n.511T>C) c.6929T>C (p.Ile2310Thr) c.194T>C (p.Ile65Thr) n.450T>C c.7109T>C (p.Ile2370Thr) c.7043T>C (p.Ile2348Thr) c.7106T>C (p.Ile2369Thr) c.7103T>C (p.Ile2368Thr) c.7049T>C (p.Ile2350Thr) c.7019T>C (p.Ile2340Thr) c.6974T>C (p.Ile2325Thr) c.6569T>C (p.Ile2190Thr) c.5927T>C (p.Ile1976Thr) c.3437T>C (p.Ile1146Thr) | |
10 | g.71798438T>G | CA377157910 | CDH23 | c.6914T>G (p.Ile2305Ser) c.847T>G (n.847T>G) c.511T>G (n.511T>G) c.6929T>G (p.Ile2310Ser) c.194T>G (p.Ile65Ser) n.450T>G c.7109T>G (p.Ile2370Ser) c.7043T>G (p.Ile2348Ser) c.7106T>G (p.Ile2369Ser) c.7103T>G (p.Ile2368Ser) c.7049T>G (p.Ile2350Ser) c.7019T>G (p.Ile2340Ser) c.6974T>G (p.Ile2325Ser) c.6569T>G (p.Ile2190Ser) c.5927T>G (p.Ile1976Ser) c.3437T>G (p.Ile1146Ser) | |
10 | g.71798439C>A | CA5546221 | CDH23 | c.6915C>A (p.Ile2305=) c.848C>A (n.848C>A) c.512C>A (n.512C>A) c.6930C>A (p.Ile2310=) c.195C>A (p.Ile65=) n.451C>A c.7110C>A (p.Ile2370=) c.7044C>A (p.Ile2348=) c.7107C>A (p.Ile2369=) c.7104C>A (p.Ile2368=) c.7050C>A (p.Ile2350=) c.7020C>A (p.Ile2340=) c.6975C>A (p.Ile2325=) c.6570C>A (p.Ile2190=) c.5928C>A (p.Ile1976=) c.3438C>A (p.Ile1146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798439C= | CA1918878441 | CDH23 | c.6915C= (p.Ile2305=) c.848C= (n.848C=) c.512C= (n.512C=) c.6930C= (p.Ile2310=) c.195C= (p.Ile65=) n.451C= c.7110C= (p.Ile2370=) c.7044C= (p.Ile2348=) c.7107C= (p.Ile2369=) c.7104C= (p.Ile2368=) c.7050C= (p.Ile2350=) c.7020C= (p.Ile2340=) c.6975C= (p.Ile2325=) c.6570C= (p.Ile2190=) c.5928C= (p.Ile1976=) c.3438C= (p.Ile1146=) | |
10 | g.71798439C>G | CA377157916 | CDH23 | c.6915C>G (p.Ile2305Met) c.848C>G (n.848C>G) c.512C>G (n.512C>G) c.6930C>G (p.Ile2310Met) c.195C>G (p.Ile65Met) n.451C>G c.7110C>G (p.Ile2370Met) c.7044C>G (p.Ile2348Met) c.7107C>G (p.Ile2369Met) c.7104C>G (p.Ile2368Met) c.7050C>G (p.Ile2350Met) c.7020C>G (p.Ile2340Met) c.6975C>G (p.Ile2325Met) c.6570C>G (p.Ile2190Met) c.5928C>G (p.Ile1976Met) c.3438C>G (p.Ile1146Met) | |
10 | g.71798439C>T | CA5546220 | CDH23 | c.6915C>T (p.Ile2305=) c.848C>T (n.848C>T) c.512C>T (n.512C>T) c.6930C>T (p.Ile2310=) c.195C>T (p.Ile65=) n.451C>T c.7110C>T (p.Ile2370=) c.7044C>T (p.Ile2348=) c.7107C>T (p.Ile2369=) c.7104C>T (p.Ile2368=) c.7050C>T (p.Ile2350=) c.7020C>T (p.Ile2340=) c.6975C>T (p.Ile2325=) c.6570C>T (p.Ile2190=) c.5928C>T (p.Ile1976=) c.3438C>T (p.Ile1146=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798440C>A | CA377157918 | CDH23 | c.6916C>A (p.Leu2306Met) c.849C>A (n.849C>A) c.513C>A (n.513C>A) c.6931C>A (p.Leu2311Met) c.196C>A (p.Leu66Met) n.452C>A c.7111C>A (p.Leu2371Met) c.7045C>A (p.Leu2349Met) c.7108C>A (p.Leu2370Met) c.7105C>A (p.Leu2369Met) c.7051C>A (p.Leu2351Met) c.7021C>A (p.Leu2341Met) c.6976C>A (p.Leu2326Met) c.6571C>A (p.Leu2191Met) c.5929C>A (p.Leu1977Met) c.3439C>A (p.Leu1147Met) | |
10 | g.71798440C>G | CA377157920 | CDH23 | c.6916C>G (p.Leu2306Val) c.849C>G (n.849C>G) c.513C>G (n.513C>G) c.6931C>G (p.Leu2311Val) c.196C>G (p.Leu66Val) n.452C>G c.7111C>G (p.Leu2371Val) c.7045C>G (p.Leu2349Val) c.7108C>G (p.Leu2370Val) c.7105C>G (p.Leu2369Val) c.7051C>G (p.Leu2351Val) c.7021C>G (p.Leu2341Val) c.6976C>G (p.Leu2326Val) c.6571C>G (p.Leu2191Val) c.5929C>G (p.Leu1977Val) c.3439C>G (p.Leu1147Val) | |
10 | g.71798440C>T | CA470062008 | CDH23 | c.6916C>T (p.Leu2306=) c.849C>T (n.849C>T) c.513C>T (n.513C>T) c.6931C>T (p.Leu2311=) c.196C>T (p.Leu66=) n.452C>T c.7111C>T (p.Leu2371=) c.7045C>T (p.Leu2349=) c.7108C>T (p.Leu2370=) c.7105C>T (p.Leu2369=) c.7051C>T (p.Leu2351=) c.7021C>T (p.Leu2341=) c.6976C>T (p.Leu2326=) c.6571C>T (p.Leu2191=) c.5929C>T (p.Leu1977=) c.3439C>T (p.Leu1147=) | ClinVar |
10 | g.71798441T>A | CA377157921 | CDH23 | c.6917T>A (p.Leu2306Gln) c.850T>A (n.850T>A) c.514T>A (n.514T>A) c.6932T>A (p.Leu2311Gln) c.197T>A (p.Leu66Gln) n.453T>A c.7112T>A (p.Leu2371Gln) c.7046T>A (p.Leu2349Gln) c.7109T>A (p.Leu2370Gln) c.7106T>A (p.Leu2369Gln) c.7052T>A (p.Leu2351Gln) c.7022T>A (p.Leu2341Gln) c.6977T>A (p.Leu2326Gln) c.6572T>A (p.Leu2191Gln) c.5930T>A (p.Leu1977Gln) c.3440T>A (p.Leu1147Gln) | |
10 | g.71798441T>C | CA377157923 | CDH23 | c.6917T>C (p.Leu2306Pro) c.850T>C (n.850T>C) c.514T>C (n.514T>C) c.6932T>C (p.Leu2311Pro) c.197T>C (p.Leu66Pro) n.453T>C c.7112T>C (p.Leu2371Pro) c.7046T>C (p.Leu2349Pro) c.7109T>C (p.Leu2370Pro) c.7106T>C (p.Leu2369Pro) c.7052T>C (p.Leu2351Pro) c.7022T>C (p.Leu2341Pro) c.6977T>C (p.Leu2326Pro) c.6572T>C (p.Leu2191Pro) c.5930T>C (p.Leu1977Pro) c.3440T>C (p.Leu1147Pro) | dbSNP gnomAD v4 |
10 | g.71798441T>G | CA377157924 | CDH23 | c.6917T>G (p.Leu2306Arg) c.850T>G (n.850T>G) c.514T>G (n.514T>G) c.6932T>G (p.Leu2311Arg) c.197T>G (p.Leu66Arg) n.453T>G c.7112T>G (p.Leu2371Arg) c.7046T>G (p.Leu2349Arg) c.7109T>G (p.Leu2370Arg) c.7106T>G (p.Leu2369Arg) c.7052T>G (p.Leu2351Arg) c.7022T>G (p.Leu2341Arg) c.6977T>G (p.Leu2326Arg) c.6572T>G (p.Leu2191Arg) c.5930T>G (p.Leu1977Arg) c.3440T>G (p.Leu1147Arg) | |
10 | g.71798441T= | CA1918878442 | CDH23 | c.6917T= (p.Leu2306=) c.850T= (n.850T=) c.514T= (n.514T=) c.6932T= (p.Leu2311=) c.197T= (p.Leu66=) n.453T= c.7112T= (p.Leu2371=) c.7046T= (p.Leu2349=) c.7109T= (p.Leu2370=) c.7106T= (p.Leu2369=) c.7052T= (p.Leu2351=) c.7022T= (p.Leu2341=) c.6977T= (p.Leu2326=) c.6572T= (p.Leu2191=) c.5930T= (p.Leu1977=) c.3440T= (p.Leu1147=) | |
10 | g.71798442G>A | CA137556 | CDH23 | c.6918G>A (p.Leu2306=) c.851G>A (n.851G>A) c.515G>A (n.515G>A) c.6933G>A (p.Leu2311=) c.198G>A (p.Leu66=) n.454G>A c.7113G>A (p.Leu2371=) c.7047G>A (p.Leu2349=) c.7110G>A (p.Leu2370=) c.7107G>A (p.Leu2369=) c.7053G>A (p.Leu2351=) c.7023G>A (p.Leu2341=) c.6978G>A (p.Leu2326=) c.6573G>A (p.Leu2191=) c.5931G>A (p.Leu1977=) c.3441G>A (p.Leu1147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798442G>C | CA470062012 | CDH23 | c.6918G>C (p.Leu2306=) c.851G>C (n.851G>C) c.515G>C (n.515G>C) c.6933G>C (p.Leu2311=) c.198G>C (p.Leu66=) n.454G>C c.7113G>C (p.Leu2371=) c.7047G>C (p.Leu2349=) c.7110G>C (p.Leu2370=) c.7107G>C (p.Leu2369=) c.7053G>C (p.Leu2351=) c.7023G>C (p.Leu2341=) c.6978G>C (p.Leu2326=) c.6573G>C (p.Leu2191=) c.5931G>C (p.Leu1977=) c.3441G>C (p.Leu1147=) | |
10 | g.71798442G= | CA1918878443 | CDH23 | c.6918G= (p.Leu2306=) c.851G= (n.851G=) c.515G= (n.515G=) c.6933G= (p.Leu2311=) c.198G= (p.Leu66=) n.454G= c.7113G= (p.Leu2371=) c.7047G= (p.Leu2349=) c.7110G= (p.Leu2370=) c.7107G= (p.Leu2369=) c.7053G= (p.Leu2351=) c.7023G= (p.Leu2341=) c.6978G= (p.Leu2326=) c.6573G= (p.Leu2191=) c.5931G= (p.Leu1977=) c.3441G= (p.Leu1147=) | |
10 | g.71798442G>T | CA470062010 | CDH23 | c.6918G>T (p.Leu2306=) c.851G>T (n.851G>T) c.515G>T (n.515G>T) c.6933G>T (p.Leu2311=) c.198G>T (p.Leu66=) n.454G>T c.7113G>T (p.Leu2371=) c.7047G>T (p.Leu2349=) c.7110G>T (p.Leu2370=) c.7107G>T (p.Leu2369=) c.7053G>T (p.Leu2351=) c.7023G>T (p.Leu2341=) c.6978G>T (p.Leu2326=) c.6573G>T (p.Leu2191=) c.5931G>T (p.Leu1977=) c.3441G>T (p.Leu1147=) | |
10 | g.71798443G>A | CA377157927 | CDH23 | c.6919G>A (p.Glu2307Lys) c.852G>A (n.852G>A) c.516G>A (n.516G>A) c.6934G>A (p.Glu2312Lys) c.199G>A (p.Glu67Lys) n.455G>A c.7114G>A (p.Glu2372Lys) c.7048G>A (p.Glu2350Lys) c.7111G>A (p.Glu2371Lys) c.7108G>A (p.Glu2370Lys) c.7054G>A (p.Glu2352Lys) c.7024G>A (p.Glu2342Lys) c.6979G>A (p.Glu2327Lys) c.6574G>A (p.Glu2192Lys) c.5932G>A (p.Glu1978Lys) c.3442G>A (p.Glu1148Lys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798443G>C | CA377157929 | CDH23 | c.6919G>C (p.Glu2307Gln) c.852G>C (n.852G>C) c.516G>C (n.516G>C) c.6934G>C (p.Glu2312Gln) c.199G>C (p.Glu67Gln) n.455G>C c.7114G>C (p.Glu2372Gln) c.7048G>C (p.Glu2350Gln) c.7111G>C (p.Glu2371Gln) c.7108G>C (p.Glu2370Gln) c.7054G>C (p.Glu2352Gln) c.7024G>C (p.Glu2342Gln) c.6979G>C (p.Glu2327Gln) c.6574G>C (p.Glu2192Gln) c.5932G>C (p.Glu1978Gln) c.3442G>C (p.Glu1148Gln) | |
10 | g.71798443G= | CA1918878444 | CDH23 | c.6919G= (p.Glu2307=) c.852G= (n.852G=) c.516G= (n.516G=) c.6934G= (p.Glu2312=) c.199G= (p.Glu67=) n.455G= c.7114G= (p.Glu2372=) c.7048G= (p.Glu2350=) c.7111G= (p.Glu2371=) c.7108G= (p.Glu2370=) c.7054G= (p.Glu2352=) c.7024G= (p.Glu2342=) c.6979G= (p.Glu2327=) c.6574G= (p.Glu2192=) c.5932G= (p.Glu1978=) c.3442G= (p.Glu1148=) | |
10 | g.71798443G>T | CA377157930 | CDH23 | c.6919G>T (p.Glu2307Ter) c.852G>T (n.852G>T) c.516G>T (n.516G>T) c.6934G>T (p.Glu2312Ter) c.199G>T (p.Glu67Ter) n.455G>T c.7114G>T (p.Glu2372Ter) c.7048G>T (p.Glu2350Ter) c.7111G>T (p.Glu2371Ter) c.7108G>T (p.Glu2370Ter) c.7054G>T (p.Glu2352Ter) c.7024G>T (p.Glu2342Ter) c.6979G>T (p.Glu2327Ter) c.6574G>T (p.Glu2192Ter) c.5932G>T (p.Glu1978Ter) c.3442G>T (p.Glu1148Ter) | |
10 | g.71798444A>C | CA377157932 | CDH23 | c.6920A>C (p.Glu2307Ala) c.853A>C (n.853A>C) c.517A>C (n.517A>C) c.6935A>C (p.Glu2312Ala) c.200A>C (p.Glu67Ala) n.456A>C c.7115A>C (p.Glu2372Ala) c.7049A>C (p.Glu2350Ala) c.7112A>C (p.Glu2371Ala) c.7109A>C (p.Glu2370Ala) c.7055A>C (p.Glu2352Ala) c.7025A>C (p.Glu2342Ala) c.6980A>C (p.Glu2327Ala) c.6575A>C (p.Glu2192Ala) c.5933A>C (p.Glu1978Ala) c.3443A>C (p.Glu1148Ala) | |
10 | g.71798444A>G | CA377157934 | CDH23 | c.6920A>G (p.Glu2307Gly) c.853A>G (n.853A>G) c.517A>G (n.517A>G) c.6935A>G (p.Glu2312Gly) c.200A>G (p.Glu67Gly) n.456A>G c.7115A>G (p.Glu2372Gly) c.7049A>G (p.Glu2350Gly) c.7112A>G (p.Glu2371Gly) c.7109A>G (p.Glu2370Gly) c.7055A>G (p.Glu2352Gly) c.7025A>G (p.Glu2342Gly) c.6980A>G (p.Glu2327Gly) c.6575A>G (p.Glu2192Gly) c.5933A>G (p.Glu1978Gly) c.3443A>G (p.Glu1148Gly) | ClinVar gnomAD v4 |
10 | g.71798444A>T | CA377157931 | CDH23 | c.6920A>T (p.Glu2307Val) c.853A>T (n.853A>T) c.517A>T (n.517A>T) c.6935A>T (p.Glu2312Val) c.200A>T (p.Glu67Val) n.456A>T c.7115A>T (p.Glu2372Val) c.7049A>T (p.Glu2350Val) c.7112A>T (p.Glu2371Val) c.7109A>T (p.Glu2370Val) c.7055A>T (p.Glu2352Val) c.7025A>T (p.Glu2342Val) c.6980A>T (p.Glu2327Val) c.6575A>T (p.Glu2192Val) c.5933A>T (p.Glu1978Val) c.3443A>T (p.Glu1148Val) | |
10 | g.71798445G>A | CA470062014 | CDH23 | c.6921G>A (p.Glu2307=) c.854G>A (n.854G>A) c.518G>A (n.518G>A) c.6936G>A (p.Glu2312=) c.201G>A (p.Glu67=) n.457G>A c.7116G>A (p.Glu2372=) c.7050G>A (p.Glu2350=) c.7113G>A (p.Glu2371=) c.7110G>A (p.Glu2370=) c.7056G>A (p.Glu2352=) c.7026G>A (p.Glu2342=) c.6981G>A (p.Glu2327=) c.6576G>A (p.Glu2192=) c.5934G>A (p.Glu1978=) c.3444G>A (p.Glu1148=) | ClinVar dbSNP gnomAD v4 |
10 | g.71798445G>C | CA377157937 | CDH23 | c.6921G>C (p.Glu2307Asp) c.854G>C (n.854G>C) c.518G>C (n.518G>C) c.6936G>C (p.Glu2312Asp) c.201G>C (p.Glu67Asp) n.457G>C c.7116G>C (p.Glu2372Asp) c.7050G>C (p.Glu2350Asp) c.7113G>C (p.Glu2371Asp) c.7110G>C (p.Glu2370Asp) c.7056G>C (p.Glu2352Asp) c.7026G>C (p.Glu2342Asp) c.6981G>C (p.Glu2327Asp) c.6576G>C (p.Glu2192Asp) c.5934G>C (p.Glu1978Asp) c.3444G>C (p.Glu1148Asp) | |
10 | g.71798445G= | CA1918878445 | CDH23 | c.6921G= (p.Glu2307=) c.854G= (n.854G=) c.518G= (n.518G=) c.6936G= (p.Glu2312=) c.201G= (p.Glu67=) n.457G= c.7116G= (p.Glu2372=) c.7050G= (p.Glu2350=) c.7113G= (p.Glu2371=) c.7110G= (p.Glu2370=) c.7056G= (p.Glu2352=) c.7026G= (p.Glu2342=) c.6981G= (p.Glu2327=) c.6576G= (p.Glu2192=) c.5934G= (p.Glu1978=) c.3444G= (p.Glu1148=) | |
10 | g.71798445G>T | CA377157935 | CDH23 | c.6921G>T (p.Glu2307Asp) c.854G>T (n.854G>T) c.518G>T (n.518G>T) c.6936G>T (p.Glu2312Asp) c.201G>T (p.Glu67Asp) n.457G>T c.7116G>T (p.Glu2372Asp) c.7050G>T (p.Glu2350Asp) c.7113G>T (p.Glu2371Asp) c.7110G>T (p.Glu2370Asp) c.7056G>T (p.Glu2352Asp) c.7026G>T (p.Glu2342Asp) c.6981G>T (p.Glu2327Asp) c.6576G>T (p.Glu2192Asp) c.5934G>T (p.Glu1978Asp) c.3444G>T (p.Glu1148Asp) | |
10 | g.71798449dup | CA2788486866 | CDH23 | c.6925dup (p.Ala2309GlyfsTer16) c.858dup (n.858dup) c.522dup (n.522dup) c.6940dup (p.Ala2314GlyfsTer16) c.205dup (p.Ala69GlyfsTer16) n.461dup c.7120dup (p.Ala2374GlyfsTer16) c.7054dup (p.Ala2352GlyfsTer16) c.7117dup (p.Ala2373GlyfsTer16) c.7114dup (p.Ala2372GlyfsTer16) c.7060dup (p.Ala2354GlyfsTer16) c.7030dup (p.Ala2344GlyfsTer16) c.6985dup (p.Ala2329GlyfsTer16) c.6580dup (p.Ala2194GlyfsTer16) c.5938dup (p.Ala1980GlyfsTer16) c.3448dup (p.Ala1150GlyfsTer16) | |
10 | g.71798449del | CA2580081842 | CDH23 | c.6925del (p.Ala2309ProfsTer?) c.858del (n.858del) c.522del (n.522del) c.6940del (p.Ala2314ProfsTer?) c.205del (p.Ala69ProfsTer?) n.461del c.7120del (p.Ala2374ProfsTer?) c.7054del (p.Ala2352ProfsTer?) c.7117del (p.Ala2373ProfsTer?) c.7114del (p.Ala2372ProfsTer?) c.7060del (p.Ala2354ProfsTer?) c.7030del (p.Ala2344ProfsTer?) c.6985del (p.Ala2329ProfsTer?) c.6580del (p.Ala2194ProfsTer?) c.5938del (p.Ala1980ProfsTer?) c.3448del (p.Ala1150ProfsTer?) | ClinVar |
10 | g.71798446G>A | CA377157938 | CDH23 | c.6922G>A (p.Gly2308Arg) c.855G>A (n.855G>A) c.519G>A (n.519G>A) c.6937G>A (p.Gly2313Arg) c.202G>A (p.Gly68Arg) n.458G>A c.7117G>A (p.Gly2373Arg) c.7051G>A (p.Gly2351Arg) c.7114G>A (p.Gly2372Arg) c.7111G>A (p.Gly2371Arg) c.7057G>A (p.Gly2353Arg) c.7027G>A (p.Gly2343Arg) c.6982G>A (p.Gly2328Arg) c.6577G>A (p.Gly2193Arg) c.5935G>A (p.Gly1979Arg) c.3445G>A (p.Gly1149Arg) | |
10 | g.71798446G>C | CA377157939 | CDH23 | c.6922G>C (p.Gly2308Arg) c.855G>C (n.855G>C) c.519G>C (n.519G>C) c.6937G>C (p.Gly2313Arg) c.202G>C (p.Gly68Arg) n.458G>C c.7117G>C (p.Gly2373Arg) c.7051G>C (p.Gly2351Arg) c.7114G>C (p.Gly2372Arg) c.7111G>C (p.Gly2371Arg) c.7057G>C (p.Gly2353Arg) c.7027G>C (p.Gly2343Arg) c.6982G>C (p.Gly2328Arg) c.6577G>C (p.Gly2193Arg) c.5935G>C (p.Gly1979Arg) c.3445G>C (p.Gly1149Arg) | |
10 | g.71798446G>T | CA377157940 | CDH23 | c.6922G>T (p.Gly2308Trp) c.855G>T (n.855G>T) c.519G>T (n.519G>T) c.6937G>T (p.Gly2313Trp) c.202G>T (p.Gly68Trp) n.458G>T c.7117G>T (p.Gly2373Trp) c.7051G>T (p.Gly2351Trp) c.7114G>T (p.Gly2372Trp) c.7111G>T (p.Gly2371Trp) c.7057G>T (p.Gly2353Trp) c.7027G>T (p.Gly2343Trp) c.6982G>T (p.Gly2328Trp) c.6577G>T (p.Gly2193Trp) c.5935G>T (p.Gly1979Trp) c.3445G>T (p.Gly1149Trp) | |
10 | g.71798447G>A | CA377157942 | CDH23 | c.6923G>A (p.Gly2308Glu) c.856G>A (n.856G>A) c.520G>A (n.520G>A) c.6938G>A (p.Gly2313Glu) c.203G>A (p.Gly68Glu) n.459G>A c.7118G>A (p.Gly2373Glu) c.7052G>A (p.Gly2351Glu) c.7115G>A (p.Gly2372Glu) c.7112G>A (p.Gly2371Glu) c.7058G>A (p.Gly2353Glu) c.7028G>A (p.Gly2343Glu) c.6983G>A (p.Gly2328Glu) c.6578G>A (p.Gly2193Glu) c.5936G>A (p.Gly1979Glu) c.3446G>A (p.Gly1149Glu) | |
10 | g.71798447G>C | CA377157944 | CDH23 | c.6923G>C (p.Gly2308Ala) c.856G>C (n.856G>C) c.520G>C (n.520G>C) c.6938G>C (p.Gly2313Ala) c.203G>C (p.Gly68Ala) n.459G>C c.7118G>C (p.Gly2373Ala) c.7052G>C (p.Gly2351Ala) c.7115G>C (p.Gly2372Ala) c.7112G>C (p.Gly2371Ala) c.7058G>C (p.Gly2353Ala) c.7028G>C (p.Gly2343Ala) c.6983G>C (p.Gly2328Ala) c.6578G>C (p.Gly2193Ala) c.5936G>C (p.Gly1979Ala) c.3446G>C (p.Gly1149Ala) | |
10 | g.71798447G>T | CA377157946 | CDH23 | c.6923G>T (p.Gly2308Val) c.856G>T (n.856G>T) c.520G>T (n.520G>T) c.6938G>T (p.Gly2313Val) c.203G>T (p.Gly68Val) n.459G>T c.7118G>T (p.Gly2373Val) c.7052G>T (p.Gly2351Val) c.7115G>T (p.Gly2372Val) c.7112G>T (p.Gly2371Val) c.7058G>T (p.Gly2353Val) c.7028G>T (p.Gly2343Val) c.6983G>T (p.Gly2328Val) c.6578G>T (p.Gly2193Val) c.5936G>T (p.Gly1979Val) c.3446G>T (p.Gly1149Val) | gnomAD v4 |
10 | g.71798448G>A | CA470062018 | CDH23 | c.6924G>A (p.Gly2308=) c.857G>A (n.857G>A) c.521G>A (n.521G>A) c.6939G>A (p.Gly2313=) c.204G>A (p.Gly68=) n.460G>A c.7119G>A (p.Gly2373=) c.7053G>A (p.Gly2351=) c.7116G>A (p.Gly2372=) c.7113G>A (p.Gly2371=) c.7059G>A (p.Gly2353=) c.7029G>A (p.Gly2343=) c.6984G>A (p.Gly2328=) c.6579G>A (p.Gly2193=) c.5937G>A (p.Gly1979=) c.3447G>A (p.Gly1149=) | |
10 | g.71798448G>C | CA470062019 | CDH23 | c.6924G>C (p.Gly2308=) c.857G>C (n.857G>C) c.521G>C (n.521G>C) c.6939G>C (p.Gly2313=) c.204G>C (p.Gly68=) n.460G>C c.7119G>C (p.Gly2373=) c.7053G>C (p.Gly2351=) c.7116G>C (p.Gly2372=) c.7113G>C (p.Gly2371=) c.7059G>C (p.Gly2353=) c.7029G>C (p.Gly2343=) c.6984G>C (p.Gly2328=) c.6579G>C (p.Gly2193=) c.5937G>C (p.Gly1979=) c.3447G>C (p.Gly1149=) | |
10 | g.71798448G= | CA1918878446 | CDH23 | c.6924G= (p.Gly2308=) c.857G= (n.857G=) c.521G= (n.521G=) c.6939G= (p.Gly2313=) c.204G= (p.Gly68=) n.460G= c.7119G= (p.Gly2373=) c.7053G= (p.Gly2351=) c.7116G= (p.Gly2372=) c.7113G= (p.Gly2371=) c.7059G= (p.Gly2353=) c.7029G= (p.Gly2343=) c.6984G= (p.Gly2328=) c.6579G= (p.Gly2193=) c.5937G= (p.Gly1979=) c.3447G= (p.Gly1149=) | |
10 | g.71798448G>T | CA5546222 | CDH23 | c.6924G>T (p.Gly2308=) c.857G>T (n.857G>T) c.521G>T (n.521G>T) c.6939G>T (p.Gly2313=) c.204G>T (p.Gly68=) n.460G>T c.7119G>T (p.Gly2373=) c.7053G>T (p.Gly2351=) c.7116G>T (p.Gly2372=) c.7113G>T (p.Gly2371=) c.7059G>T (p.Gly2353=) c.7029G>T (p.Gly2343=) c.6984G>T (p.Gly2328=) c.6579G>T (p.Gly2193=) c.5937G>T (p.Gly1979=) c.3447G>T (p.Gly1149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71798449G>A | CA377157947 | CDH23 | c.6925G>A (p.Ala2309Thr) c.858G>A (n.858G>A) c.522G>A (n.522G>A) c.6940G>A (p.Ala2314Thr) c.205G>A (p.Ala69Thr) n.461G>A c.7120G>A (p.Ala2374Thr) c.7054G>A (p.Ala2352Thr) c.7117G>A (p.Ala2373Thr) c.7114G>A (p.Ala2372Thr) c.7060G>A (p.Ala2354Thr) c.7030G>A (p.Ala2344Thr) c.6985G>A (p.Ala2329Thr) c.6580G>A (p.Ala2194Thr) c.5938G>A (p.Ala1980Thr) c.3448G>A (p.Ala1150Thr) | dbSNP |
10 | g.71798449G>C | CA377157949 | CDH23 | c.6925G>C (p.Ala2309Pro) c.858G>C (n.858G>C) c.522G>C (n.522G>C) c.6940G>C (p.Ala2314Pro) c.205G>C (p.Ala69Pro) n.461G>C c.7120G>C (p.Ala2374Pro) c.7054G>C (p.Ala2352Pro) c.7117G>C (p.Ala2373Pro) c.7114G>C (p.Ala2372Pro) c.7060G>C (p.Ala2354Pro) c.7030G>C (p.Ala2344Pro) c.6985G>C (p.Ala2329Pro) c.6580G>C (p.Ala2194Pro) c.5938G>C (p.Ala1980Pro) c.3448G>C (p.Ala1150Pro) | |
10 | g.71798449G= | CA1918878447 | CDH23 | c.6925G= (p.Ala2309=) c.858G= (n.858G=) c.522G= (n.522G=) c.6940G= (p.Ala2314=) c.205G= (p.Ala69=) n.461G= c.7120G= (p.Ala2374=) c.7054G= (p.Ala2352=) c.7117G= (p.Ala2373=) c.7114G= (p.Ala2372=) c.7060G= (p.Ala2354=) c.7030G= (p.Ala2344=) c.6985G= (p.Ala2329=) c.6580G= (p.Ala2194=) c.5938G= (p.Ala1980=) c.3448G= (p.Ala1150=) | |
10 | g.71798449G>T | CA377157951 | CDH23 | c.6925G>T (p.Ala2309Ser) c.858G>T (n.858G>T) c.522G>T (n.522G>T) c.6940G>T (p.Ala2314Ser) c.205G>T (p.Ala69Ser) n.461G>T c.7120G>T (p.Ala2374Ser) c.7054G>T (p.Ala2352Ser) c.7117G>T (p.Ala2373Ser) c.7114G>T (p.Ala2372Ser) c.7060G>T (p.Ala2354Ser) c.7030G>T (p.Ala2344Ser) c.6985G>T (p.Ala2329Ser) c.6580G>T (p.Ala2194Ser) c.5938G>T (p.Ala1980Ser) c.3448G>T (p.Ala1150Ser) | |
10 | g.71798450C>A | CA377157953 | CDH23 | c.6926C>A (p.Ala2309Asp) c.859C>A (n.859C>A) c.523C>A (n.523C>A) c.6941C>A (p.Ala2314Asp) c.206C>A (p.Ala69Asp) n.462C>A c.7121C>A (p.Ala2374Asp) c.7055C>A (p.Ala2352Asp) c.7118C>A (p.Ala2373Asp) c.7115C>A (p.Ala2372Asp) c.7061C>A (p.Ala2354Asp) c.7031C>A (p.Ala2344Asp) c.6986C>A (p.Ala2329Asp) c.6581C>A (p.Ala2194Asp) c.5939C>A (p.Ala1980Asp) c.3449C>A (p.Ala1150Asp) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71798450C= | CA1918878448 | CDH23 | c.6926C= (p.Ala2309=) c.859C= (n.859C=) c.523C= (n.523C=) c.6941C= (p.Ala2314=) c.206C= (p.Ala69=) n.462C= c.7121C= (p.Ala2374=) c.7055C= (p.Ala2352=) c.7118C= (p.Ala2373=) c.7115C= (p.Ala2372=) c.7061C= (p.Ala2354=) c.7031C= (p.Ala2344=) c.6986C= (p.Ala2329=) c.6581C= (p.Ala2194=) c.5939C= (p.Ala1980=) c.3449C= (p.Ala1150=) | |
10 | g.71798450C>G | CA377157954 | CDH23 | c.6926C>G (p.Ala2309Gly) c.859C>G (n.859C>G) c.523C>G (n.523C>G) c.6941C>G (p.Ala2314Gly) c.206C>G (p.Ala69Gly) n.462C>G c.7121C>G (p.Ala2374Gly) c.7055C>G (p.Ala2352Gly) c.7118C>G (p.Ala2373Gly) c.7115C>G (p.Ala2372Gly) c.7061C>G (p.Ala2354Gly) c.7031C>G (p.Ala2344Gly) c.6986C>G (p.Ala2329Gly) c.6581C>G (p.Ala2194Gly) c.5939C>G (p.Ala1980Gly) c.3449C>G (p.Ala1150Gly) | dbSNP |
10 | g.71798450C>T | CA377157955 | CDH23 | c.6926C>T (p.Ala2309Val) c.859C>T (n.859C>T) c.523C>T (n.523C>T) c.6941C>T (p.Ala2314Val) c.206C>T (p.Ala69Val) n.462C>T c.7121C>T (p.Ala2374Val) c.7055C>T (p.Ala2352Val) c.7118C>T (p.Ala2373Val) c.7115C>T (p.Ala2372Val) c.7061C>T (p.Ala2354Val) c.7031C>T (p.Ala2344Val) c.6986C>T (p.Ala2329Val) c.6581C>T (p.Ala2194Val) c.5939C>T (p.Ala1980Val) c.3449C>T (p.Ala1150Val) | dbSNP |
10 | g.71798451C>A | CA5546223 | CDH23 | c.6927C>A (p.Ala2309=) c.860C>A (n.860C>A) c.524C>A (n.524C>A) c.6942C>A (p.Ala2314=) c.207C>A (p.Ala69=) n.463C>A c.7122C>A (p.Ala2374=) c.7056C>A (p.Ala2352=) c.7119C>A (p.Ala2373=) c.7116C>A (p.Ala2372=) c.7062C>A (p.Ala2354=) c.7032C>A (p.Ala2344=) c.6987C>A (p.Ala2329=) c.6582C>A (p.Ala2194=) c.5940C>A (p.Ala1980=) c.3450C>A (p.Ala1150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798451C= | CA1918878449 | CDH23 | c.6927C= (p.Ala2309=) c.860C= (n.860C=) c.524C= (n.524C=) c.6942C= (p.Ala2314=) c.207C= (p.Ala69=) n.463C= c.7122C= (p.Ala2374=) c.7056C= (p.Ala2352=) c.7119C= (p.Ala2373=) c.7116C= (p.Ala2372=) c.7062C= (p.Ala2354=) c.7032C= (p.Ala2344=) c.6987C= (p.Ala2329=) c.6582C= (p.Ala2194=) c.5940C= (p.Ala1980=) c.3450C= (p.Ala1150=) | |
10 | g.71798451C>G | CA470062022 | CDH23 | c.6927C>G (p.Ala2309=) c.860C>G (n.860C>G) c.524C>G (n.524C>G) c.6942C>G (p.Ala2314=) c.207C>G (p.Ala69=) n.463C>G c.7122C>G (p.Ala2374=) c.7056C>G (p.Ala2352=) c.7119C>G (p.Ala2373=) c.7116C>G (p.Ala2372=) c.7062C>G (p.Ala2354=) c.7032C>G (p.Ala2344=) c.6987C>G (p.Ala2329=) c.6582C>G (p.Ala2194=) c.5940C>G (p.Ala1980=) c.3450C>G (p.Ala1150=) | |
10 | g.71798451C>T | CA5546224 | CDH23 | c.6927C>T (p.Ala2309=) c.860C>T (n.860C>T) c.524C>T (n.524C>T) c.6942C>T (p.Ala2314=) c.207C>T (p.Ala69=) n.463C>T c.7122C>T (p.Ala2374=) c.7056C>T (p.Ala2352=) c.7119C>T (p.Ala2373=) c.7116C>T (p.Ala2372=) c.7062C>T (p.Ala2354=) c.7032C>T (p.Ala2344=) c.6987C>T (p.Ala2329=) c.6582C>T (p.Ala2194=) c.5940C>T (p.Ala1980=) c.3450C>T (p.Ala1150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798452A= | CA1918878450 | CDH23 | c.6928A= (p.Thr2310=) c.861A= (n.861A=) c.525A= (n.525A=) c.6943A= (p.Thr2315=) c.208A= (p.Thr70=) n.464A= c.7123A= (p.Thr2375=) c.7057A= (p.Thr2353=) c.7120A= (p.Thr2374=) c.7117A= (p.Thr2373=) c.7063A= (p.Thr2355=) c.7033A= (p.Thr2345=) c.6988A= (p.Thr2330=) c.6583A= (p.Thr2195=) c.5941A= (p.Thr1981=) c.3451A= (p.Thr1151=) | |
10 | g.71798452A>C | CA377157959 | CDH23 | c.6928A>C (p.Thr2310Pro) c.861A>C (n.861A>C) c.525A>C (n.525A>C) c.6943A>C (p.Thr2315Pro) c.208A>C (p.Thr70Pro) n.464A>C c.7123A>C (p.Thr2375Pro) c.7057A>C (p.Thr2353Pro) c.7120A>C (p.Thr2374Pro) c.7117A>C (p.Thr2373Pro) c.7063A>C (p.Thr2355Pro) c.7033A>C (p.Thr2345Pro) c.6988A>C (p.Thr2330Pro) c.6583A>C (p.Thr2195Pro) c.5941A>C (p.Thr1981Pro) c.3451A>C (p.Thr1151Pro) | dbSNP |
10 | g.71798452A>G | CA377157960 | CDH23 | c.6928A>G (p.Thr2310Ala) c.861A>G (n.861A>G) c.525A>G (n.525A>G) c.6943A>G (p.Thr2315Ala) c.208A>G (p.Thr70Ala) n.464A>G c.7123A>G (p.Thr2375Ala) c.7057A>G (p.Thr2353Ala) c.7120A>G (p.Thr2374Ala) c.7117A>G (p.Thr2373Ala) c.7063A>G (p.Thr2355Ala) c.7033A>G (p.Thr2345Ala) c.6988A>G (p.Thr2330Ala) c.6583A>G (p.Thr2195Ala) c.5941A>G (p.Thr1981Ala) c.3451A>G (p.Thr1151Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71798452A>T | CA377157962 | CDH23 | c.6928A>T (p.Thr2310Ser) c.861A>T (n.861A>T) c.525A>T (n.525A>T) c.6943A>T (p.Thr2315Ser) c.208A>T (p.Thr70Ser) n.464A>T c.7123A>T (p.Thr2375Ser) c.7057A>T (p.Thr2353Ser) c.7120A>T (p.Thr2374Ser) c.7117A>T (p.Thr2373Ser) c.7063A>T (p.Thr2355Ser) c.7033A>T (p.Thr2345Ser) c.6988A>T (p.Thr2330Ser) c.6583A>T (p.Thr2195Ser) c.5941A>T (p.Thr1981Ser) c.3451A>T (p.Thr1151Ser) | dbSNP |
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.71798492dup | CA2840293842 | CDH23 | c.6968dup (p.Asp2324Ter) c.901dup (n.901dup) c.565dup (n.565dup) c.6983dup (p.Asp2329Ter) c.248dup (p.Asp84Ter) n.504dup c.7163dup (p.Asp2389Ter) c.7097dup (p.Asp2367Ter) c.7160dup (p.Asp2388Ter) c.7157dup (p.Asp2387Ter) c.7103dup (p.Asp2369Ter) c.7073dup (p.Asp2359Ter) c.7028dup (p.Asp2344Ter) c.6623dup (p.Asp2209Ter) c.5981dup (p.Asp1995Ter) c.3491dup (p.Asp1165Ter) | |
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=) |