WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71798392A= | CA1918878421 | CDH23 | c.6868A= (p.Thr2290=) c.801A= (n.801A=) c.465A= (n.465A=) c.6883A= (p.Thr2295=) c.148A= (p.Thr50=) n.404A= c.7063A= (p.Thr2355=) c.6997A= (p.Thr2333=) c.7060A= (p.Thr2354=) c.7057A= (p.Thr2353=) c.7003A= (p.Thr2335=) c.6973A= (p.Thr2325=) c.6928A= (p.Thr2310=) c.6523A= (p.Thr2175=) c.5881A= (p.Thr1961=) c.3391A= (p.Thr1131=) | |
| 10 | g.71798392A>C | CA377157745 | CDH23 | c.6868A>C (p.Thr2290Pro) c.801A>C (n.801A>C) c.465A>C (n.465A>C) c.6883A>C (p.Thr2295Pro) c.148A>C (p.Thr50Pro) n.404A>C c.7063A>C (p.Thr2355Pro) c.6997A>C (p.Thr2333Pro) c.7060A>C (p.Thr2354Pro) c.7057A>C (p.Thr2353Pro) c.7003A>C (p.Thr2335Pro) c.6973A>C (p.Thr2325Pro) c.6928A>C (p.Thr2310Pro) c.6523A>C (p.Thr2175Pro) c.5881A>C (p.Thr1961Pro) c.3391A>C (p.Thr1131Pro) | |
| 10 | g.71798392A>G | CA377157747 | CDH23 | c.6868A>G (p.Thr2290Ala) c.801A>G (n.801A>G) c.465A>G (n.465A>G) c.6883A>G (p.Thr2295Ala) c.148A>G (p.Thr50Ala) n.404A>G c.7063A>G (p.Thr2355Ala) c.6997A>G (p.Thr2333Ala) c.7060A>G (p.Thr2354Ala) c.7057A>G (p.Thr2353Ala) c.7003A>G (p.Thr2335Ala) c.6973A>G (p.Thr2325Ala) c.6928A>G (p.Thr2310Ala) c.6523A>G (p.Thr2175Ala) c.5881A>G (p.Thr1961Ala) c.3391A>G (p.Thr1131Ala) | |
| 10 | g.71798392A>T | CA209469559 | CDH23 | c.6868A>T (p.Thr2290Ser) c.801A>T (n.801A>T) c.465A>T (n.465A>T) c.6883A>T (p.Thr2295Ser) c.148A>T (p.Thr50Ser) n.404A>T c.7063A>T (p.Thr2355Ser) c.6997A>T (p.Thr2333Ser) c.7060A>T (p.Thr2354Ser) c.7057A>T (p.Thr2353Ser) c.7003A>T (p.Thr2335Ser) c.6973A>T (p.Thr2325Ser) c.6928A>T (p.Thr2310Ser) c.6523A>T (p.Thr2175Ser) c.5881A>T (p.Thr1961Ser) c.3391A>T (p.Thr1131Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |