Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71793225C>T | CA2609580329 | CDH23 | c.6297C>T (p.Gly2099=) c.6312C>T (p.Gly2104=) c.6492C>T (p.Gly2164=) c.6426C>T (p.Gly2142=) c.6489C>T (p.Gly2163=) c.6486C>T (p.Gly2162=) c.6432C>T (p.Gly2144=) c.6357C>T (p.Gly2119=) c.5952C>T (p.Gly1984=) c.5310C>T (p.Gly1770=) c.2820C>T (p.Gly940=) n.6735C>T | gnomAD v4 |
10 | g.71793226C>A | CA377154121 | CDH23 | c.6298C>A (p.Leu2100Ile) c.6313C>A (p.Leu2105Ile) c.6493C>A (p.Leu2165Ile) c.6427C>A (p.Leu2143Ile) c.6490C>A (p.Leu2164Ile) c.6487C>A (p.Leu2163Ile) c.6433C>A (p.Leu2145Ile) c.6358C>A (p.Leu2120Ile) c.5953C>A (p.Leu1985Ile) c.5311C>A (p.Leu1771Ile) c.2821C>A (p.Leu941Ile) n.6736C>A | |
10 | g.71793226C>G | CA377154122 | CDH23 | c.6298C>G (p.Leu2100Val) c.6313C>G (p.Leu2105Val) c.6493C>G (p.Leu2165Val) c.6427C>G (p.Leu2143Val) c.6490C>G (p.Leu2164Val) c.6487C>G (p.Leu2163Val) c.6433C>G (p.Leu2145Val) c.6358C>G (p.Leu2120Val) c.5953C>G (p.Leu1985Val) c.5311C>G (p.Leu1771Val) c.2821C>G (p.Leu941Val) n.6736C>G | |
10 | g.71793226C>T | CA377154125 | CDH23 | c.6298C>T (p.Leu2100Phe) c.6313C>T (p.Leu2105Phe) c.6493C>T (p.Leu2165Phe) c.6427C>T (p.Leu2143Phe) c.6490C>T (p.Leu2164Phe) c.6487C>T (p.Leu2163Phe) c.6433C>T (p.Leu2145Phe) c.6358C>T (p.Leu2120Phe) c.5953C>T (p.Leu1985Phe) c.5311C>T (p.Leu1771Phe) c.2821C>T (p.Leu941Phe) n.6736C>T | |
10 | g.71793227T>A | CA377154127 | CDH23 | c.6299T>A (p.Leu2100His) c.6314T>A (p.Leu2105His) c.6494T>A (p.Leu2165His) c.6428T>A (p.Leu2143His) c.6491T>A (p.Leu2164His) c.6488T>A (p.Leu2163His) c.6434T>A (p.Leu2145His) c.6359T>A (p.Leu2120His) c.5954T>A (p.Leu1985His) c.5312T>A (p.Leu1771His) c.2822T>A (p.Leu941His) n.6737T>A | dbSNP |
10 | g.71793227T>C | CA377154129 | CDH23 | c.6299T>C (p.Leu2100Pro) c.6314T>C (p.Leu2105Pro) c.6494T>C (p.Leu2165Pro) c.6428T>C (p.Leu2143Pro) c.6491T>C (p.Leu2164Pro) c.6488T>C (p.Leu2163Pro) c.6434T>C (p.Leu2145Pro) c.6359T>C (p.Leu2120Pro) c.5954T>C (p.Leu1985Pro) c.5312T>C (p.Leu1771Pro) c.2822T>C (p.Leu941Pro) n.6737T>C | |
10 | g.71793227T>G | CA377154132 | CDH23 | c.6299T>G (p.Leu2100Arg) c.6314T>G (p.Leu2105Arg) c.6494T>G (p.Leu2165Arg) c.6428T>G (p.Leu2143Arg) c.6491T>G (p.Leu2164Arg) c.6488T>G (p.Leu2163Arg) c.6434T>G (p.Leu2145Arg) c.6359T>G (p.Leu2120Arg) c.5954T>G (p.Leu1985Arg) c.5312T>G (p.Leu1771Arg) c.2822T>G (p.Leu941Arg) n.6737T>G | |
10 | g.71793228C= | CA1918874144 | CDH23 | c.6300C= (p.Leu2100=) c.6315C= (p.Leu2105=) c.6495C= (p.Leu2165=) c.6429C= (p.Leu2143=) c.6492C= (p.Leu2164=) c.6489C= (p.Leu2163=) c.6435C= (p.Leu2145=) c.6360C= (p.Leu2120=) c.5955C= (p.Leu1985=) c.5313C= (p.Leu1771=) c.2823C= (p.Leu941=) n.6738C= | |
10 | g.71793228C>G | CA2722285354 | CDH23 | c.6300C>G (p.Leu2100=) c.6315C>G (p.Leu2105=) c.6495C>G (p.Leu2165=) c.6429C>G (p.Leu2143=) c.6492C>G (p.Leu2164=) c.6489C>G (p.Leu2163=) c.6435C>G (p.Leu2145=) c.6360C>G (p.Leu2120=) c.5955C>G (p.Leu1985=) c.5313C>G (p.Leu1771=) c.2823C>G (p.Leu941=) n.6738C>G | dbSNP |
10 | g.71793228C>T | CA2609580336 | CDH23 | c.6300C>T (p.Leu2100=) c.6315C>T (p.Leu2105=) c.6495C>T (p.Leu2165=) c.6429C>T (p.Leu2143=) c.6492C>T (p.Leu2164=) c.6489C>T (p.Leu2163=) c.6435C>T (p.Leu2145=) c.6360C>T (p.Leu2120=) c.5955C>T (p.Leu1985=) c.5313C>T (p.Leu1771=) c.2823C>T (p.Leu941=) n.6738C>T | gnomAD v4 |
10 | g.71793229A= | CA1918874146 | CDH23 | c.6301A= (p.Asn2101=) c.6316A= (p.Asn2106=) c.6496A= (p.Asn2166=) c.6430A= (p.Asn2144=) c.6493A= (p.Asn2165=) c.6490A= (p.Asn2164=) c.6436A= (p.Asn2146=) c.6361A= (p.Asn2121=) c.5956A= (p.Asn1986=) c.5314A= (p.Asn1772=) c.2824A= (p.Asn942=) n.6739A= | |
10 | g.71793229A>C | CA377154135 | CDH23 | c.6301A>C (p.Asn2101His) c.6316A>C (p.Asn2106His) c.6496A>C (p.Asn2166His) c.6430A>C (p.Asn2144His) c.6493A>C (p.Asn2165His) c.6490A>C (p.Asn2164His) c.6436A>C (p.Asn2146His) c.6361A>C (p.Asn2121His) c.5956A>C (p.Asn1986His) c.5314A>C (p.Asn1772His) c.2824A>C (p.Asn942His) n.6739A>C | |
10 | g.71793229A>G | CA5546051 | CDH23 | c.6301A>G (p.Asn2101Asp) c.6316A>G (p.Asn2106Asp) c.6496A>G (p.Asn2166Asp) c.6430A>G (p.Asn2144Asp) c.6493A>G (p.Asn2165Asp) c.6490A>G (p.Asn2164Asp) c.6436A>G (p.Asn2146Asp) c.6361A>G (p.Asn2121Asp) c.5956A>G (p.Asn1986Asp) c.5314A>G (p.Asn1772Asp) c.2824A>G (p.Asn942Asp) n.6739A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793229A>T | CA377154146 | CDH23 | c.6301A>T (p.Asn2101Tyr) c.6316A>T (p.Asn2106Tyr) c.6496A>T (p.Asn2166Tyr) c.6430A>T (p.Asn2144Tyr) c.6493A>T (p.Asn2165Tyr) c.6490A>T (p.Asn2164Tyr) c.6436A>T (p.Asn2146Tyr) c.6361A>T (p.Asn2121Tyr) c.5956A>T (p.Asn1986Tyr) c.5314A>T (p.Asn1772Tyr) c.2824A>T (p.Asn942Tyr) n.6739A>T | |
10 | g.71793229_71793230dup | CA929791260 | CDH23 | c.6301_6302dup (p.Asn2101LysfsTer9) c.6316_6317dup (p.Asn2106LysfsTer9) c.6496_6497dup (p.Asn2166LysfsTer9) c.6430_6431dup (p.Asn2144LysfsTer9) c.6493_6494dup (p.Asn2165LysfsTer9) c.6490_6491dup (p.Asn2164LysfsTer9) c.6436_6437dup (p.Asn2146LysfsTer9) c.6361_6362dup (p.Asn2121LysfsTer9) c.5956_5957dup (p.Asn1986LysfsTer9) c.5314_5315dup (p.Asn1772LysfsTer9) c.2824_2825dup (p.Asn942LysfsTer9) n.6739_6740dup | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793230A= | CA1918874148 | CDH23 | c.6302A= (p.Asn2101=) c.6317A= (p.Asn2106=) c.6497A= (p.Asn2166=) c.6431A= (p.Asn2144=) c.6494A= (p.Asn2165=) c.6491A= (p.Asn2164=) c.6437A= (p.Asn2146=) c.6362A= (p.Asn2121=) c.5957A= (p.Asn1986=) c.5315A= (p.Asn1772=) c.2825A= (p.Asn942=) n.6740A= | |
10 | g.71793230A>C | CA377154159 | CDH23 | c.6302A>C (p.Asn2101Thr) c.6317A>C (p.Asn2106Thr) c.6497A>C (p.Asn2166Thr) c.6431A>C (p.Asn2144Thr) c.6494A>C (p.Asn2165Thr) c.6491A>C (p.Asn2164Thr) c.6437A>C (p.Asn2146Thr) c.6362A>C (p.Asn2121Thr) c.5957A>C (p.Asn1986Thr) c.5315A>C (p.Asn1772Thr) c.2825A>C (p.Asn942Thr) n.6740A>C | |
10 | g.71793230A>G | CA377154161 | CDH23 | c.6302A>G (p.Asn2101Ser) c.6317A>G (p.Asn2106Ser) c.6497A>G (p.Asn2166Ser) c.6431A>G (p.Asn2144Ser) c.6494A>G (p.Asn2165Ser) c.6491A>G (p.Asn2164Ser) c.6437A>G (p.Asn2146Ser) c.6362A>G (p.Asn2121Ser) c.5957A>G (p.Asn1986Ser) c.5315A>G (p.Asn1772Ser) c.2825A>G (p.Asn942Ser) n.6740A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793230A>T | CA377154160 | CDH23 | c.6302A>T (p.Asn2101Ile) c.6317A>T (p.Asn2106Ile) c.6497A>T (p.Asn2166Ile) c.6431A>T (p.Asn2144Ile) c.6494A>T (p.Asn2165Ile) c.6491A>T (p.Asn2164Ile) c.6437A>T (p.Asn2146Ile) c.6362A>T (p.Asn2121Ile) c.5957A>T (p.Asn1986Ile) c.5315A>T (p.Asn1772Ile) c.2825A>T (p.Asn942Ile) n.6740A>T | |
10 | g.71793231T>A | CA377154162 | CDH23 | c.6303T>A (p.Asn2101Lys) c.6318T>A (p.Asn2106Lys) c.6498T>A (p.Asn2166Lys) c.6432T>A (p.Asn2144Lys) c.6495T>A (p.Asn2165Lys) c.6492T>A (p.Asn2164Lys) c.6438T>A (p.Asn2146Lys) c.6363T>A (p.Asn2121Lys) c.5958T>A (p.Asn1986Lys) c.5316T>A (p.Asn1772Lys) c.2826T>A (p.Asn942Lys) n.6741T>A | dbSNP |
10 | g.71793231T>G | CA377154163 | CDH23 | c.6303T>G (p.Asn2101Lys) c.6318T>G (p.Asn2106Lys) c.6498T>G (p.Asn2166Lys) c.6432T>G (p.Asn2144Lys) c.6495T>G (p.Asn2165Lys) c.6492T>G (p.Asn2164Lys) c.6438T>G (p.Asn2146Lys) c.6363T>G (p.Asn2121Lys) c.5958T>G (p.Asn1986Lys) c.5316T>G (p.Asn1772Lys) c.2826T>G (p.Asn942Lys) n.6741T>G | |
10 | g.71793231_71793232delinsTG | CA1918874149 | CDH23 | c.6303_6304delinsTG (p.Asn2101=) c.6318_6319delinsTG (p.Asn2106=) c.6498_6499delinsTG (p.Asn2166=) c.6432_6433delinsTG (p.Asn2144=) c.6495_6496delinsTG (p.Asn2165=) c.6492_6493delinsTG (p.Asn2164=) c.6438_6439delinsTG (p.Asn2146=) c.6363_6364delinsTG (p.Asn2121=) c.5958_5959delinsTG (p.Asn1986=) c.5316_5317delinsTG (p.Asn1772=) c.2826_2827delinsTG (p.Asn942=) n.6741_6742delinsTG | |
10 | g.71793232G>A | CA377154164 | CDH23 | c.6304G>A (p.Gly2102Arg) c.6319G>A (p.Gly2107Arg) c.6499G>A (p.Gly2167Arg) c.6433G>A (p.Gly2145Arg) c.6496G>A (p.Gly2166Arg) c.6493G>A (p.Gly2165Arg) c.6439G>A (p.Gly2147Arg) c.6364G>A (p.Gly2122Arg) c.5959G>A (p.Gly1987Arg) c.5317G>A (p.Gly1773Arg) c.2827G>A (p.Gly943Arg) n.6742G>A | dbSNP |
10 | g.71793232G>C | CA377154165 | CDH23 | c.6304G>C (p.Gly2102Arg) c.6319G>C (p.Gly2107Arg) c.6499G>C (p.Gly2167Arg) c.6433G>C (p.Gly2145Arg) c.6496G>C (p.Gly2166Arg) c.6493G>C (p.Gly2165Arg) c.6439G>C (p.Gly2147Arg) c.6364G>C (p.Gly2122Arg) c.5959G>C (p.Gly1987Arg) c.5317G>C (p.Gly1773Arg) c.2827G>C (p.Gly943Arg) n.6742G>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793232G= | CA1918874151 | CDH23 | c.6304G= (p.Gly2102=) c.6319G= (p.Gly2107=) c.6499G= (p.Gly2167=) c.6433G= (p.Gly2145=) c.6496G= (p.Gly2166=) c.6493G= (p.Gly2165=) c.6439G= (p.Gly2147=) c.6364G= (p.Gly2122=) c.5959G= (p.Gly1987=) c.5317G= (p.Gly1773=) c.2827G= (p.Gly943=) n.6742G= | |
10 | g.71793232G>T | CA209465968 | CDH23 | c.6304G>T (p.Gly2102Trp) c.6319G>T (p.Gly2107Trp) c.6499G>T (p.Gly2167Trp) c.6433G>T (p.Gly2145Trp) c.6496G>T (p.Gly2166Trp) c.6493G>T (p.Gly2165Trp) c.6439G>T (p.Gly2147Trp) c.6364G>T (p.Gly2122Trp) c.5959G>T (p.Gly1987Trp) c.5317G>T (p.Gly1773Trp) c.2827G>T (p.Gly943Trp) n.6742G>T | dbSNP gnomAD v4 |
10 | g.71793235del | CA929791265 | CDH23 | c.6307del (p.Glu2103SerfsTer6) c.6322del (p.Glu2108SerfsTer6) c.6502del (p.Glu2168SerfsTer6) c.6436del (p.Glu2146SerfsTer6) c.6499del (p.Glu2167SerfsTer6) c.6496del (p.Glu2166SerfsTer6) c.6442del (p.Glu2148SerfsTer6) c.6367del (p.Glu2123SerfsTer6) c.5962del (p.Glu1988SerfsTer6) c.5320del (p.Glu1774SerfsTer6) c.2830del (p.Glu944SerfsTer6) n.6745del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793233G>A | CA377154171 | CDH23 | c.6305G>A (p.Gly2102Glu) c.6320G>A (p.Gly2107Glu) c.6500G>A (p.Gly2167Glu) c.6434G>A (p.Gly2145Glu) c.6497G>A (p.Gly2166Glu) c.6494G>A (p.Gly2165Glu) c.6440G>A (p.Gly2147Glu) c.6365G>A (p.Gly2122Glu) c.5960G>A (p.Gly1987Glu) c.5318G>A (p.Gly1773Glu) c.2828G>A (p.Gly943Glu) n.6743G>A | dbSNP gnomAD v2 |
10 | g.71793233G>C | CA377154174 | CDH23 | c.6305G>C (p.Gly2102Ala) c.6320G>C (p.Gly2107Ala) c.6500G>C (p.Gly2167Ala) c.6434G>C (p.Gly2145Ala) c.6497G>C (p.Gly2166Ala) c.6494G>C (p.Gly2165Ala) c.6440G>C (p.Gly2147Ala) c.6365G>C (p.Gly2122Ala) c.5960G>C (p.Gly1987Ala) c.5318G>C (p.Gly1773Ala) c.2828G>C (p.Gly943Ala) n.6743G>C | dbSNP gnomAD v4 |
10 | g.71793233G= | CA1918874153 | CDH23 | c.6305G= (p.Gly2102=) c.6320G= (p.Gly2107=) c.6500G= (p.Gly2167=) c.6434G= (p.Gly2145=) c.6497G= (p.Gly2166=) c.6494G= (p.Gly2165=) c.6440G= (p.Gly2147=) c.6365G= (p.Gly2122=) c.5960G= (p.Gly1987=) c.5318G= (p.Gly1773=) c.2828G= (p.Gly943=) n.6743G= | |
10 | g.71793233G>T | CA377154177 | CDH23 | c.6305G>T (p.Gly2102Val) c.6320G>T (p.Gly2107Val) c.6500G>T (p.Gly2167Val) c.6434G>T (p.Gly2145Val) c.6497G>T (p.Gly2166Val) c.6494G>T (p.Gly2165Val) c.6440G>T (p.Gly2147Val) c.6365G>T (p.Gly2122Val) c.5960G>T (p.Gly1987Val) c.5318G>T (p.Gly1773Val) c.2828G>T (p.Gly943Val) n.6743G>T | dbSNP |
10 | g.71793234G>A | CA5546052 | CDH23 | c.6306G>A (p.Gly2102=) c.6321G>A (p.Gly2107=) c.6501G>A (p.Gly2167=) c.6435G>A (p.Gly2145=) c.6498G>A (p.Gly2166=) c.6495G>A (p.Gly2165=) c.6441G>A (p.Gly2147=) c.6366G>A (p.Gly2122=) c.5961G>A (p.Gly1987=) c.5319G>A (p.Gly1773=) c.2829G>A (p.Gly943=) n.6744G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793234G= | CA1918874155 | CDH23 | c.6306G= (p.Gly2102=) c.6321G= (p.Gly2107=) c.6501G= (p.Gly2167=) c.6435G= (p.Gly2145=) c.6498G= (p.Gly2166=) c.6495G= (p.Gly2165=) c.6441G= (p.Gly2147=) c.6366G= (p.Gly2122=) c.5961G= (p.Gly1987=) c.5319G= (p.Gly1773=) c.2829G= (p.Gly943=) n.6744G= | |
10 | g.71793235G>A | CA377154185 | CDH23 | c.6307G>A (p.Glu2103Lys) c.6322G>A (p.Glu2108Lys) c.6502G>A (p.Glu2168Lys) c.6436G>A (p.Glu2146Lys) c.6499G>A (p.Glu2167Lys) c.6496G>A (p.Glu2166Lys) c.6442G>A (p.Glu2148Lys) c.6367G>A (p.Glu2123Lys) c.5962G>A (p.Glu1988Lys) c.5320G>A (p.Glu1774Lys) c.2830G>A (p.Glu944Lys) n.6745G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793235G>C | CA377154193 | CDH23 | c.6307G>C (p.Glu2103Gln) c.6322G>C (p.Glu2108Gln) c.6502G>C (p.Glu2168Gln) c.6436G>C (p.Glu2146Gln) c.6499G>C (p.Glu2167Gln) c.6496G>C (p.Glu2166Gln) c.6442G>C (p.Glu2148Gln) c.6367G>C (p.Glu2123Gln) c.5962G>C (p.Glu1988Gln) c.5320G>C (p.Glu1774Gln) c.2830G>C (p.Glu944Gln) n.6745G>C | dbSNP |
10 | g.71793235G= | CA1918874156 | CDH23 | c.6307G= (p.Glu2103=) c.6322G= (p.Glu2108=) c.6502G= (p.Glu2168=) c.6436G= (p.Glu2146=) c.6499G= (p.Glu2167=) c.6496G= (p.Glu2166=) c.6442G= (p.Glu2148=) c.6367G= (p.Glu2123=) c.5962G= (p.Glu1988=) c.5320G= (p.Glu1774=) c.2830G= (p.Glu944=) n.6745G= | |
10 | g.71793235G>T | CA377154196 | CDH23 | c.6307G>T (p.Glu2103Ter) c.6322G>T (p.Glu2108Ter) c.6502G>T (p.Glu2168Ter) c.6436G>T (p.Glu2146Ter) c.6499G>T (p.Glu2167Ter) c.6496G>T (p.Glu2166Ter) c.6442G>T (p.Glu2148Ter) c.6367G>T (p.Glu2123Ter) c.5962G>T (p.Glu1988Ter) c.5320G>T (p.Glu1774Ter) c.2830G>T (p.Glu944Ter) n.6745G>T | ClinVar dbSNP gnomAD v4 |
10 | g.71793236A>C | CA377154197 | CDH23 | c.6308A>C (p.Glu2103Ala) c.6323A>C (p.Glu2108Ala) c.6503A>C (p.Glu2168Ala) c.6437A>C (p.Glu2146Ala) c.6500A>C (p.Glu2167Ala) c.6497A>C (p.Glu2166Ala) c.6443A>C (p.Glu2148Ala) c.6368A>C (p.Glu2123Ala) c.5963A>C (p.Glu1988Ala) c.5321A>C (p.Glu1774Ala) c.2831A>C (p.Glu944Ala) n.6746A>C | |
10 | g.71793236A>G | CA377154198 | CDH23 | c.6308A>G (p.Glu2103Gly) c.6323A>G (p.Glu2108Gly) c.6503A>G (p.Glu2168Gly) c.6437A>G (p.Glu2146Gly) c.6500A>G (p.Glu2167Gly) c.6497A>G (p.Glu2166Gly) c.6443A>G (p.Glu2148Gly) c.6368A>G (p.Glu2123Gly) c.5963A>G (p.Glu1988Gly) c.5321A>G (p.Glu1774Gly) c.2831A>G (p.Glu944Gly) n.6746A>G | dbSNP |
10 | g.71793236A>T | CA377154199 | CDH23 | c.6308A>T (p.Glu2103Val) c.6323A>T (p.Glu2108Val) c.6503A>T (p.Glu2168Val) c.6437A>T (p.Glu2146Val) c.6500A>T (p.Glu2167Val) c.6497A>T (p.Glu2166Val) c.6443A>T (p.Glu2148Val) c.6368A>T (p.Glu2123Val) c.5963A>T (p.Glu1988Val) c.5321A>T (p.Glu1774Val) c.2831A>T (p.Glu944Val) n.6746A>T | |
10 | g.71793237G>A | CA594705918 | CDH23 | c.6309G>A (p.Glu2103=) c.6324G>A (p.Glu2108=) c.6504G>A (p.Glu2168=) c.6438G>A (p.Glu2146=) c.6501G>A (p.Glu2167=) c.6498G>A (p.Glu2166=) c.6444G>A (p.Glu2148=) c.6369G>A (p.Glu2123=) c.5964G>A (p.Glu1988=) c.5322G>A (p.Glu1774=) c.2832G>A (p.Glu944=) n.6747G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793237G>C | CA377154200 | CDH23 | c.6309G>C (p.Glu2103Asp) c.6324G>C (p.Glu2108Asp) c.6504G>C (p.Glu2168Asp) c.6438G>C (p.Glu2146Asp) c.6501G>C (p.Glu2167Asp) c.6498G>C (p.Glu2166Asp) c.6444G>C (p.Glu2148Asp) c.6369G>C (p.Glu2123Asp) c.5964G>C (p.Glu1988Asp) c.5322G>C (p.Glu1774Asp) c.2832G>C (p.Glu944Asp) n.6747G>C | |
10 | g.71793237G= | CA1918874158 | CDH23 | c.6309G= (p.Glu2103=) c.6324G= (p.Glu2108=) c.6504G= (p.Glu2168=) c.6438G= (p.Glu2146=) c.6501G= (p.Glu2167=) c.6498G= (p.Glu2166=) c.6444G= (p.Glu2148=) c.6369G= (p.Glu2123=) c.5964G= (p.Glu1988=) c.5322G= (p.Glu1774=) c.2832G= (p.Glu944=) n.6747G= | |
10 | g.71793237G>T | CA377154202 | CDH23 | c.6309G>T (p.Glu2103Asp) c.6324G>T (p.Glu2108Asp) c.6504G>T (p.Glu2168Asp) c.6438G>T (p.Glu2146Asp) c.6501G>T (p.Glu2167Asp) c.6498G>T (p.Glu2166Asp) c.6444G>T (p.Glu2148Asp) c.6369G>T (p.Glu2123Asp) c.5964G>T (p.Glu1988Asp) c.5322G>T (p.Glu1774Asp) c.2832G>T (p.Glu944Asp) n.6747G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793238C>A | CA377154206 | CDH23 | c.6310C>A (p.Leu2104Met) c.6325C>A (p.Leu2109Met) c.6505C>A (p.Leu2169Met) c.6439C>A (p.Leu2147Met) c.6502C>A (p.Leu2168Met) c.6499C>A (p.Leu2167Met) c.6445C>A (p.Leu2149Met) c.6370C>A (p.Leu2124Met) c.5965C>A (p.Leu1989Met) c.5323C>A (p.Leu1775Met) c.2833C>A (p.Leu945Met) n.6748C>A | |
10 | g.71793238C>G | CA377154209 | CDH23 | c.6310C>G (p.Leu2104Val) c.6325C>G (p.Leu2109Val) c.6505C>G (p.Leu2169Val) c.6439C>G (p.Leu2147Val) c.6502C>G (p.Leu2168Val) c.6499C>G (p.Leu2167Val) c.6445C>G (p.Leu2149Val) c.6370C>G (p.Leu2124Val) c.5965C>G (p.Leu1989Val) c.5323C>G (p.Leu1775Val) c.2833C>G (p.Leu945Val) n.6748C>G | gnomAD v4 |
10 | g.71793238C>T | CA2722285418 | CDH23 | c.6310C>T (p.Leu2104=) c.6325C>T (p.Leu2109=) c.6505C>T (p.Leu2169=) c.6439C>T (p.Leu2147=) c.6502C>T (p.Leu2168=) c.6499C>T (p.Leu2167=) c.6445C>T (p.Leu2149=) c.6370C>T (p.Leu2124=) c.5965C>T (p.Leu1989=) c.5323C>T (p.Leu1775=) c.2833C>T (p.Leu945=) n.6748C>T | dbSNP |
10 | g.71793239T>A | CA377154217 | CDH23 | c.6311T>A (p.Leu2104Gln) c.6326T>A (p.Leu2109Gln) c.6506T>A (p.Leu2169Gln) c.6440T>A (p.Leu2147Gln) c.6503T>A (p.Leu2168Gln) c.6500T>A (p.Leu2167Gln) c.6446T>A (p.Leu2149Gln) c.6371T>A (p.Leu2124Gln) c.5966T>A (p.Leu1989Gln) c.5324T>A (p.Leu1775Gln) c.2834T>A (p.Leu945Gln) n.6749T>A | |
10 | g.71793239T>C | CA377154219 | CDH23 | c.6311T>C (p.Leu2104Pro) c.6326T>C (p.Leu2109Pro) c.6506T>C (p.Leu2169Pro) c.6440T>C (p.Leu2147Pro) c.6503T>C (p.Leu2168Pro) c.6500T>C (p.Leu2167Pro) c.6446T>C (p.Leu2149Pro) c.6371T>C (p.Leu2124Pro) c.5966T>C (p.Leu1989Pro) c.5324T>C (p.Leu1775Pro) c.2834T>C (p.Leu945Pro) n.6749T>C | |
10 | g.71793239T>G | CA377154224 | CDH23 | c.6311T>G (p.Leu2104Arg) c.6326T>G (p.Leu2109Arg) c.6506T>G (p.Leu2169Arg) c.6440T>G (p.Leu2147Arg) c.6503T>G (p.Leu2168Arg) c.6500T>G (p.Leu2167Arg) c.6446T>G (p.Leu2149Arg) c.6371T>G (p.Leu2124Arg) c.5966T>G (p.Leu1989Arg) c.5324T>G (p.Leu1775Arg) c.2834T>G (p.Leu945Arg) n.6749T>G | |
10 | g.71793239_71793240delinsTG | CA1918874160 | CDH23 | c.6311_6312delinsTG (p.Leu2104=) c.6326_6327delinsTG (p.Leu2109=) c.6506_6507delinsTG (p.Leu2169=) c.6440_6441delinsTG (p.Leu2147=) c.6503_6504delinsTG (p.Leu2168=) c.6500_6501delinsTG (p.Leu2167=) c.6446_6447delinsTG (p.Leu2149=) c.6371_6372delinsTG (p.Leu2124=) c.5966_5967delinsTG (p.Leu1989=) c.5324_5325delinsTG (p.Leu1775=) c.2834_2835delinsTG (p.Leu945=) n.6749_6750delinsTG | |
10 | g.71793239_71793272delinsCCA | CA2695199526 | CDH23 | c.6311_6344delinsCCA (p.Leu2104ProfsTer29) c.6326_6359delinsCCA (p.Leu2109ProfsTer29) c.6506_6539delinsCCA (p.Leu2169ProfsTer29) c.6440_6473delinsCCA (p.Leu2147ProfsTer29) c.6503_6536delinsCCA (p.Leu2168ProfsTer29) c.6500_6533delinsCCA (p.Leu2167ProfsTer29) c.6446_6479delinsCCA (p.Leu2149ProfsTer29) c.6506_6539delinsCCA (p.Leu2169ProfsTer20) c.6371_6404delinsCCA (p.Leu2124ProfsTer29) c.5966_5999delinsCCA (p.Leu1989ProfsTer29) c.5324_5357delinsCCA (p.Leu1775ProfsTer29) c.2834_2867delinsCCA (p.Leu945ProfsTer29) n.6749_6782delinsCCA | ClinVar |
10 | g.71793240G>A | CA2722065365 | CDH23 | c.6312G>A (p.Leu2104=) c.6327G>A (p.Leu2109=) c.6507G>A (p.Leu2169=) c.6441G>A (p.Leu2147=) c.6504G>A (p.Leu2168=) c.6501G>A (p.Leu2167=) c.6447G>A (p.Leu2149=) c.6372G>A (p.Leu2124=) c.5967G>A (p.Leu1989=) c.5325G>A (p.Leu1775=) c.2835G>A (p.Leu945=) n.6750G>A | dbSNP |
10 | g.71793240G= | CA1918874162 | CDH23 | c.6312G= (p.Leu2104=) c.6327G= (p.Leu2109=) c.6507G= (p.Leu2169=) c.6441G= (p.Leu2147=) c.6504G= (p.Leu2168=) c.6501G= (p.Leu2167=) c.6447G= (p.Leu2149=) c.6372G= (p.Leu2124=) c.5967G= (p.Leu1989=) c.5325G= (p.Leu1775=) c.2835G= (p.Leu945=) n.6750G= | |
10 | g.71793240G>T | CA1918874163 | CDH23 | c.6312G>T (p.Leu2104=) c.6327G>T (p.Leu2109=) c.6507G>T (p.Leu2169=) c.6441G>T (p.Leu2147=) c.6504G>T (p.Leu2168=) c.6501G>T (p.Leu2167=) c.6447G>T (p.Leu2149=) c.6372G>T (p.Leu2124=) c.5967G>T (p.Leu1989=) c.5325G>T (p.Leu1775=) c.2835G>T (p.Leu945=) n.6750G>T | dbSNP gnomAD v4 |
10 | g.71793241del | CA5546053 | CDH23 | c.6313del (p.Val2105SerfsTer4) c.6328del (p.Val2110SerfsTer4) c.6508del (p.Val2170SerfsTer4) c.6442del (p.Val2148SerfsTer4) c.6505del (p.Val2169SerfsTer4) c.6502del (p.Val2168SerfsTer4) c.6448del (p.Val2150SerfsTer4) c.6373del (p.Val2125SerfsTer4) c.5968del (p.Val1990SerfsTer4) c.5326del (p.Val1776SerfsTer4) c.2836del (p.Val946SerfsTer4) n.6751del | dbSNP ExAC gnomAD v2 |
10 | g.71793241G>A | CA377154229 | CDH23 | c.6313G>A (p.Val2105Ile) c.6328G>A (p.Val2110Ile) c.6508G>A (p.Val2170Ile) c.6442G>A (p.Val2148Ile) c.6505G>A (p.Val2169Ile) c.6502G>A (p.Val2168Ile) c.6448G>A (p.Val2150Ile) c.6373G>A (p.Val2125Ile) c.5968G>A (p.Val1990Ile) c.5326G>A (p.Val1776Ile) c.2836G>A (p.Val946Ile) n.6751G>A | dbSNP |
10 | g.71793241G>C | CA377154246 | CDH23 | c.6313G>C (p.Val2105Leu) c.6328G>C (p.Val2110Leu) c.6508G>C (p.Val2170Leu) c.6442G>C (p.Val2148Leu) c.6505G>C (p.Val2169Leu) c.6502G>C (p.Val2168Leu) c.6448G>C (p.Val2150Leu) c.6373G>C (p.Val2125Leu) c.5968G>C (p.Val1990Leu) c.5326G>C (p.Val1776Leu) c.2836G>C (p.Val946Leu) n.6751G>C | gnomAD v4 |
10 | g.71793241G= | CA1918874165 | CDH23 | c.6313G= (p.Val2105=) c.6328G= (p.Val2110=) c.6508G= (p.Val2170=) c.6442G= (p.Val2148=) c.6505G= (p.Val2169=) c.6502G= (p.Val2168=) c.6448G= (p.Val2150=) c.6373G= (p.Val2125=) c.5968G= (p.Val1990=) c.5326G= (p.Val1776=) c.2836G= (p.Val946=) n.6751G= | |
10 | g.71793241G>T | CA377154249 | CDH23 | c.6313G>T (p.Val2105Phe) c.6328G>T (p.Val2110Phe) c.6508G>T (p.Val2170Phe) c.6442G>T (p.Val2148Phe) c.6505G>T (p.Val2169Phe) c.6502G>T (p.Val2168Phe) c.6448G>T (p.Val2150Phe) c.6373G>T (p.Val2125Phe) c.5968G>T (p.Val1990Phe) c.5326G>T (p.Val1776Phe) c.2836G>T (p.Val946Phe) n.6751G>T | |
10 | g.71793242T>A | CA377154252 | CDH23 | c.6314T>A (p.Val2105Asp) c.6329T>A (p.Val2110Asp) c.6509T>A (p.Val2170Asp) c.6443T>A (p.Val2148Asp) c.6506T>A (p.Val2169Asp) c.6503T>A (p.Val2168Asp) c.6449T>A (p.Val2150Asp) c.6374T>A (p.Val2125Asp) c.5969T>A (p.Val1990Asp) c.5327T>A (p.Val1776Asp) c.2837T>A (p.Val946Asp) n.6752T>A | |
10 | g.71793242T>C | CA377154254 | CDH23 | c.6314T>C (p.Val2105Ala) c.6329T>C (p.Val2110Ala) c.6509T>C (p.Val2170Ala) c.6443T>C (p.Val2148Ala) c.6506T>C (p.Val2169Ala) c.6503T>C (p.Val2168Ala) c.6449T>C (p.Val2150Ala) c.6374T>C (p.Val2125Ala) c.5969T>C (p.Val1990Ala) c.5327T>C (p.Val1776Ala) c.2837T>C (p.Val946Ala) n.6752T>C | |
10 | g.71793242T>G | CA377154256 | CDH23 | c.6314T>G (p.Val2105Gly) c.6329T>G (p.Val2110Gly) c.6509T>G (p.Val2170Gly) c.6443T>G (p.Val2148Gly) c.6506T>G (p.Val2169Gly) c.6503T>G (p.Val2168Gly) c.6449T>G (p.Val2150Gly) c.6374T>G (p.Val2125Gly) c.5969T>G (p.Val1990Gly) c.5327T>G (p.Val1776Gly) c.2837T>G (p.Val946Gly) n.6752T>G | |
10 | g.71793243C>A | CA1918874167 | CDH23 | c.6315C>A (p.Val2105=) c.6330C>A (p.Val2110=) c.6510C>A (p.Val2170=) c.6444C>A (p.Val2148=) c.6507C>A (p.Val2169=) c.6504C>A (p.Val2168=) c.6450C>A (p.Val2150=) c.6375C>A (p.Val2125=) c.5970C>A (p.Val1990=) c.5328C>A (p.Val1776=) c.2838C>A (p.Val946=) n.6753C>A | dbSNP gnomAD v4 |
10 | g.71793243C= | CA1918874166 | CDH23 | c.6315C= (p.Val2105=) c.6330C= (p.Val2110=) c.6510C= (p.Val2170=) c.6444C= (p.Val2148=) c.6507C= (p.Val2169=) c.6504C= (p.Val2168=) c.6450C= (p.Val2150=) c.6375C= (p.Val2125=) c.5970C= (p.Val1990=) c.5328C= (p.Val1776=) c.2838C= (p.Val946=) n.6753C= | |
10 | g.71793243C>G | CA2722051847 | CDH23 | c.6315C>G (p.Val2105=) c.6330C>G (p.Val2110=) c.6510C>G (p.Val2170=) c.6444C>G (p.Val2148=) c.6507C>G (p.Val2169=) c.6504C>G (p.Val2168=) c.6450C>G (p.Val2150=) c.6375C>G (p.Val2125=) c.5970C>G (p.Val1990=) c.5328C>G (p.Val1776=) c.2838C>G (p.Val946=) n.6753C>G | dbSNP |
10 | g.71793243C>T | CA2739275742 | CDH23 | c.6315C>T (p.Val2105=) c.6330C>T (p.Val2110=) c.6510C>T (p.Val2170=) c.6444C>T (p.Val2148=) c.6507C>T (p.Val2169=) c.6504C>T (p.Val2168=) c.6450C>T (p.Val2150=) c.6375C>T (p.Val2125=) c.5970C>T (p.Val1990=) c.5328C>T (p.Val1776=) c.2838C>T (p.Val946=) n.6753C>T | ClinVar |
10 | g.71793244T>A | CA377154259 | CDH23 | c.6316T>A (p.Tyr2106Asn) c.6331T>A (p.Tyr2111Asn) c.6511T>A (p.Tyr2171Asn) c.6445T>A (p.Tyr2149Asn) c.6508T>A (p.Tyr2170Asn) c.6505T>A (p.Tyr2169Asn) c.6451T>A (p.Tyr2151Asn) c.6376T>A (p.Tyr2126Asn) c.5971T>A (p.Tyr1991Asn) c.5329T>A (p.Tyr1777Asn) c.2839T>A (p.Tyr947Asn) n.6754T>A | |
10 | g.71793244T>C | CA377154266 | CDH23 | c.6316T>C (p.Tyr2106His) c.6331T>C (p.Tyr2111His) c.6511T>C (p.Tyr2171His) c.6445T>C (p.Tyr2149His) c.6508T>C (p.Tyr2170His) c.6505T>C (p.Tyr2169His) c.6451T>C (p.Tyr2151His) c.6376T>C (p.Tyr2126His) c.5971T>C (p.Tyr1991His) c.5329T>C (p.Tyr1777His) c.2839T>C (p.Tyr947His) n.6754T>C | |
10 | g.71793244T>G | CA377154264 | CDH23 | c.6316T>G (p.Tyr2106Asp) c.6331T>G (p.Tyr2111Asp) c.6511T>G (p.Tyr2171Asp) c.6445T>G (p.Tyr2149Asp) c.6508T>G (p.Tyr2170Asp) c.6505T>G (p.Tyr2169Asp) c.6451T>G (p.Tyr2151Asp) c.6376T>G (p.Tyr2126Asp) c.5971T>G (p.Tyr1991Asp) c.5329T>G (p.Tyr1777Asp) c.2839T>G (p.Tyr947Asp) n.6754T>G | |
10 | g.71793245A>C | CA377154268 | CDH23 | c.6317A>C (p.Tyr2106Ser) c.6332A>C (p.Tyr2111Ser) c.6512A>C (p.Tyr2171Ser) c.6446A>C (p.Tyr2149Ser) c.6509A>C (p.Tyr2170Ser) c.6506A>C (p.Tyr2169Ser) c.6452A>C (p.Tyr2151Ser) c.6377A>C (p.Tyr2126Ser) c.5972A>C (p.Tyr1991Ser) c.5330A>C (p.Tyr1777Ser) c.2840A>C (p.Tyr947Ser) n.6755A>C | |
10 | g.71793245A>G | CA377154270 | CDH23 | c.6317A>G (p.Tyr2106Cys) c.6332A>G (p.Tyr2111Cys) c.6512A>G (p.Tyr2171Cys) c.6446A>G (p.Tyr2149Cys) c.6509A>G (p.Tyr2170Cys) c.6506A>G (p.Tyr2169Cys) c.6452A>G (p.Tyr2151Cys) c.6377A>G (p.Tyr2126Cys) c.5972A>G (p.Tyr1991Cys) c.5330A>G (p.Tyr1777Cys) c.2840A>G (p.Tyr947Cys) n.6755A>G | |
10 | g.71793245A>T | CA377154273 | CDH23 | c.6317A>T (p.Tyr2106Phe) c.6332A>T (p.Tyr2111Phe) c.6512A>T (p.Tyr2171Phe) c.6446A>T (p.Tyr2149Phe) c.6509A>T (p.Tyr2170Phe) c.6506A>T (p.Tyr2169Phe) c.6452A>T (p.Tyr2151Phe) c.6377A>T (p.Tyr2126Phe) c.5972A>T (p.Tyr1991Phe) c.5330A>T (p.Tyr1777Phe) c.2840A>T (p.Tyr947Phe) n.6755A>T | |
10 | g.71793246C>A | CA377154276 | CDH23 | c.6318C>A (p.Tyr2106Ter) c.6333C>A (p.Tyr2111Ter) c.6513C>A (p.Tyr2171Ter) c.6447C>A (p.Tyr2149Ter) c.6510C>A (p.Tyr2170Ter) c.6507C>A (p.Tyr2169Ter) c.6453C>A (p.Tyr2151Ter) c.6378C>A (p.Tyr2126Ter) c.5973C>A (p.Tyr1991Ter) c.5331C>A (p.Tyr1777Ter) c.2841C>A (p.Tyr947Ter) n.6756C>A | |
10 | g.71793246C>G | CA377154277 | CDH23 | c.6318C>G (p.Tyr2106Ter) c.6333C>G (p.Tyr2111Ter) c.6513C>G (p.Tyr2171Ter) c.6447C>G (p.Tyr2149Ter) c.6510C>G (p.Tyr2170Ter) c.6507C>G (p.Tyr2169Ter) c.6453C>G (p.Tyr2151Ter) c.6378C>G (p.Tyr2126Ter) c.5973C>G (p.Tyr1991Ter) c.5331C>G (p.Tyr1777Ter) c.2841C>G (p.Tyr947Ter) n.6756C>G | dbSNP |
10 | g.71793247C>A | CA2499220348 | CDH23 | c.6319C>A (p.Arg2107=) c.6334C>A (p.Arg2112=) c.6514C>A (p.Arg2172=) c.6448C>A (p.Arg2150=) c.6511C>A (p.Arg2171=) c.6508C>A (p.Arg2170=) c.6454C>A (p.Arg2152=) c.6379C>A (p.Arg2127=) c.5974C>A (p.Arg1992=) c.5332C>A (p.Arg1778=) c.2842C>A (p.Arg948=) n.6757C>A | ClinVar dbSNP |
10 | g.71793247C= | CA1918874169 | CDH23 | c.6319C= (p.Arg2107=) c.6334C= (p.Arg2112=) c.6514C= (p.Arg2172=) c.6448C= (p.Arg2150=) c.6511C= (p.Arg2171=) c.6508C= (p.Arg2170=) c.6454C= (p.Arg2152=) c.6379C= (p.Arg2127=) c.5974C= (p.Arg1992=) c.5332C= (p.Arg1778=) c.2842C= (p.Arg948=) n.6757C= | |
10 | g.71793247C>G | CA377154278 | CDH23 | c.6319C>G (p.Arg2107Gly) c.6334C>G (p.Arg2112Gly) c.6514C>G (p.Arg2172Gly) c.6448C>G (p.Arg2150Gly) c.6511C>G (p.Arg2171Gly) c.6508C>G (p.Arg2170Gly) c.6454C>G (p.Arg2152Gly) c.6379C>G (p.Arg2127Gly) c.5974C>G (p.Arg1992Gly) c.5332C>G (p.Arg1778Gly) c.2842C>G (p.Arg948Gly) n.6757C>G | dbSNP gnomAD v4 |
10 | g.71793247C>T | CA377154279 | CDH23 | c.6319C>T (p.Arg2107Ter) c.6334C>T (p.Arg2112Ter) c.6514C>T (p.Arg2172Ter) c.6448C>T (p.Arg2150Ter) c.6511C>T (p.Arg2171Ter) c.6508C>T (p.Arg2170Ter) c.6454C>T (p.Arg2152Ter) c.6379C>T (p.Arg2127Ter) c.5974C>T (p.Arg1992Ter) c.5332C>T (p.Arg1778Ter) c.2842C>T (p.Arg948Ter) n.6757C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.71793248G>A | CA5546054 | CDH23 | c.6320G>A (p.Arg2107Gln) c.6335G>A (p.Arg2112Gln) c.6515G>A (p.Arg2172Gln) c.6449G>A (p.Arg2150Gln) c.6512G>A (p.Arg2171Gln) c.6509G>A (p.Arg2170Gln) c.6455G>A (p.Arg2152Gln) c.6380G>A (p.Arg2127Gln) c.5975G>A (p.Arg1992Gln) c.5333G>A (p.Arg1778Gln) c.2843G>A (p.Arg948Gln) n.6758G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71793248G>C | CA377154282 | CDH23 | c.6320G>C (p.Arg2107Pro) c.6335G>C (p.Arg2112Pro) c.6515G>C (p.Arg2172Pro) c.6449G>C (p.Arg2150Pro) c.6512G>C (p.Arg2171Pro) c.6509G>C (p.Arg2170Pro) c.6455G>C (p.Arg2152Pro) c.6380G>C (p.Arg2127Pro) c.5975G>C (p.Arg1992Pro) c.5333G>C (p.Arg1778Pro) c.2843G>C (p.Arg948Pro) n.6758G>C | dbSNP gnomAD v4 |
10 | g.71793248G= | CA1918874173 | CDH23 | c.6320G= (p.Arg2107=) c.6335G= (p.Arg2112=) c.6515G= (p.Arg2172=) c.6449G= (p.Arg2150=) c.6512G= (p.Arg2171=) c.6509G= (p.Arg2170=) c.6455G= (p.Arg2152=) c.6380G= (p.Arg2127=) c.5975G= (p.Arg1992=) c.5333G= (p.Arg1778=) c.2843G= (p.Arg948=) n.6758G= | |
10 | g.71793248G>T | CA377154284 | CDH23 | c.6320G>T (p.Arg2107Leu) c.6335G>T (p.Arg2112Leu) c.6515G>T (p.Arg2172Leu) c.6449G>T (p.Arg2150Leu) c.6512G>T (p.Arg2171Leu) c.6509G>T (p.Arg2170Leu) c.6455G>T (p.Arg2152Leu) c.6380G>T (p.Arg2127Leu) c.5975G>T (p.Arg1992Leu) c.5333G>T (p.Arg1778Leu) c.2843G>T (p.Arg948Leu) n.6758G>T | ClinVar dbSNP gnomAD v4 |
10 | g.71793250A= | CA1918874177 | CDH23 | c.6322A= (p.Ile2108=) c.6337A= (p.Ile2113=) c.6517A= (p.Ile2173=) c.6451A= (p.Ile2151=) c.6514A= (p.Ile2172=) c.6511A= (p.Ile2171=) c.6457A= (p.Ile2153=) c.6382A= (p.Ile2128=) c.5977A= (p.Ile1993=) c.5335A= (p.Ile1779=) c.2845A= (p.Ile949=) n.6760A= | |
10 | g.71793250A>C | CA377154287 | CDH23 | c.6322A>C (p.Ile2108Leu) c.6337A>C (p.Ile2113Leu) c.6517A>C (p.Ile2173Leu) c.6451A>C (p.Ile2151Leu) c.6514A>C (p.Ile2172Leu) c.6511A>C (p.Ile2171Leu) c.6457A>C (p.Ile2153Leu) c.6382A>C (p.Ile2128Leu) c.5977A>C (p.Ile1993Leu) c.5335A>C (p.Ile1779Leu) c.2845A>C (p.Ile949Leu) n.6760A>C | |
10 | g.71793250A>G | CA377154294 | CDH23 | c.6322A>G (p.Ile2108Val) c.6337A>G (p.Ile2113Val) c.6517A>G (p.Ile2173Val) c.6451A>G (p.Ile2151Val) c.6514A>G (p.Ile2172Val) c.6511A>G (p.Ile2171Val) c.6457A>G (p.Ile2153Val) c.6382A>G (p.Ile2128Val) c.5977A>G (p.Ile1993Val) c.5335A>G (p.Ile1779Val) c.2845A>G (p.Ile949Val) n.6760A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793250A>T | CA377154295 | CDH23 | c.6322A>T (p.Ile2108Leu) c.6337A>T (p.Ile2113Leu) c.6517A>T (p.Ile2173Leu) c.6451A>T (p.Ile2151Leu) c.6514A>T (p.Ile2172Leu) c.6511A>T (p.Ile2171Leu) c.6457A>T (p.Ile2153Leu) c.6382A>T (p.Ile2128Leu) c.5977A>T (p.Ile1993Leu) c.5335A>T (p.Ile1779Leu) c.2845A>T (p.Ile949Leu) n.6760A>T | |
10 | g.71793251T>A | CA377154296 | CDH23 | c.6323T>A (p.Ile2108Lys) c.6338T>A (p.Ile2113Lys) c.6518T>A (p.Ile2173Lys) c.6452T>A (p.Ile2151Lys) c.6515T>A (p.Ile2172Lys) c.6512T>A (p.Ile2171Lys) c.6458T>A (p.Ile2153Lys) c.6383T>A (p.Ile2128Lys) c.5978T>A (p.Ile1993Lys) c.5336T>A (p.Ile1779Lys) c.2846T>A (p.Ile949Lys) n.6761T>A | dbSNP |
10 | g.71793251T>C | CA377154298 | CDH23 | c.6323T>C (p.Ile2108Thr) c.6338T>C (p.Ile2113Thr) c.6518T>C (p.Ile2173Thr) c.6452T>C (p.Ile2151Thr) c.6515T>C (p.Ile2172Thr) c.6512T>C (p.Ile2171Thr) c.6458T>C (p.Ile2153Thr) c.6383T>C (p.Ile2128Thr) c.5978T>C (p.Ile1993Thr) c.5336T>C (p.Ile1779Thr) c.2846T>C (p.Ile949Thr) n.6761T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793251T>G | CA377154297 | CDH23 | c.6323T>G (p.Ile2108Arg) c.6338T>G (p.Ile2113Arg) c.6518T>G (p.Ile2173Arg) c.6452T>G (p.Ile2151Arg) c.6515T>G (p.Ile2172Arg) c.6512T>G (p.Ile2171Arg) c.6458T>G (p.Ile2153Arg) c.6383T>G (p.Ile2128Arg) c.5978T>G (p.Ile1993Arg) c.5336T>G (p.Ile1779Arg) c.2846T>G (p.Ile949Arg) n.6761T>G | |
10 | g.71793251T= | CA1918874179 | CDH23 | c.6323T= (p.Ile2108=) c.6338T= (p.Ile2113=) c.6518T= (p.Ile2173=) c.6452T= (p.Ile2151=) c.6515T= (p.Ile2172=) c.6512T= (p.Ile2171=) c.6458T= (p.Ile2153=) c.6383T= (p.Ile2128=) c.5978T= (p.Ile1993=) c.5336T= (p.Ile1779=) c.2846T= (p.Ile949=) n.6761T= | |
10 | g.71793252A>G | CA377154300 | CDH23 | c.6324A>G (p.Ile2108Met) c.6339A>G (p.Ile2113Met) c.6519A>G (p.Ile2173Met) c.6453A>G (p.Ile2151Met) c.6516A>G (p.Ile2172Met) c.6513A>G (p.Ile2171Met) c.6459A>G (p.Ile2153Met) c.6384A>G (p.Ile2128Met) c.5979A>G (p.Ile1993Met) c.5337A>G (p.Ile1779Met) c.2847A>G (p.Ile949Met) n.6762A>G | |
10 | g.71793253G>A | CA377154309 | CDH23 | c.6325G>A (p.Glu2109Lys) c.6340G>A (p.Glu2114Lys) c.6520G>A (p.Glu2174Lys) c.6454G>A (p.Glu2152Lys) c.6517G>A (p.Glu2173Lys) c.6514G>A (p.Glu2172Lys) c.6460G>A (p.Glu2154Lys) c.6385G>A (p.Glu2129Lys) c.5980G>A (p.Glu1994Lys) c.5338G>A (p.Glu1780Lys) c.2848G>A (p.Glu950Lys) n.6763G>A | |
10 | g.71793253G>C | CA377154312 | CDH23 | c.6325G>C (p.Glu2109Gln) c.6340G>C (p.Glu2114Gln) c.6520G>C (p.Glu2174Gln) c.6454G>C (p.Glu2152Gln) c.6517G>C (p.Glu2173Gln) c.6514G>C (p.Glu2172Gln) c.6460G>C (p.Glu2154Gln) c.6385G>C (p.Glu2129Gln) c.5980G>C (p.Glu1994Gln) c.5338G>C (p.Glu1780Gln) c.2848G>C (p.Glu950Gln) n.6763G>C | |
10 | g.71793253G>T | CA377154315 | CDH23 | c.6325G>T (p.Glu2109Ter) c.6340G>T (p.Glu2114Ter) c.6520G>T (p.Glu2174Ter) c.6454G>T (p.Glu2152Ter) c.6517G>T (p.Glu2173Ter) c.6514G>T (p.Glu2172Ter) c.6460G>T (p.Glu2154Ter) c.6385G>T (p.Glu2129Ter) c.5980G>T (p.Glu1994Ter) c.5338G>T (p.Glu1780Ter) c.2848G>T (p.Glu950Ter) n.6763G>T | |
10 | g.71793254A>C | CA377154317 | CDH23 | c.6326A>C (p.Glu2109Ala) c.6341A>C (p.Glu2114Ala) c.6521A>C (p.Glu2174Ala) c.6455A>C (p.Glu2152Ala) c.6518A>C (p.Glu2173Ala) c.6515A>C (p.Glu2172Ala) c.6461A>C (p.Glu2154Ala) c.6386A>C (p.Glu2129Ala) c.5981A>C (p.Glu1994Ala) c.5339A>C (p.Glu1780Ala) c.2849A>C (p.Glu950Ala) n.6764A>C | |
10 | g.71793254A>G | CA377154319 | CDH23 | c.6326A>G (p.Glu2109Gly) c.6341A>G (p.Glu2114Gly) c.6521A>G (p.Glu2174Gly) c.6455A>G (p.Glu2152Gly) c.6518A>G (p.Glu2173Gly) c.6515A>G (p.Glu2172Gly) c.6461A>G (p.Glu2154Gly) c.6386A>G (p.Glu2129Gly) c.5981A>G (p.Glu1994Gly) c.5339A>G (p.Glu1780Gly) c.2849A>G (p.Glu950Gly) n.6764A>G | gnomAD v4 |
10 | g.71793254A>T | CA377154321 | CDH23 | c.6326A>T (p.Glu2109Val) c.6341A>T (p.Glu2114Val) c.6521A>T (p.Glu2174Val) c.6455A>T (p.Glu2152Val) c.6518A>T (p.Glu2173Val) c.6515A>T (p.Glu2172Val) c.6461A>T (p.Glu2154Val) c.6386A>T (p.Glu2129Val) c.5981A>T (p.Glu1994Val) c.5339A>T (p.Glu1780Val) c.2849A>T (p.Glu950Val) n.6764A>T | |
10 | g.71793255A>C | CA377154323 | CDH23 | c.6327A>C (p.Glu2109Asp) c.6342A>C (p.Glu2114Asp) c.6522A>C (p.Glu2174Asp) c.6456A>C (p.Glu2152Asp) c.6519A>C (p.Glu2173Asp) c.6516A>C (p.Glu2172Asp) c.6462A>C (p.Glu2154Asp) c.6387A>C (p.Glu2129Asp) c.5982A>C (p.Glu1994Asp) c.5340A>C (p.Glu1780Asp) c.2850A>C (p.Glu950Asp) n.6765A>C | |
10 | g.71793255A>T | CA377154327 | CDH23 | c.6327A>T (p.Glu2109Asp) c.6342A>T (p.Glu2114Asp) c.6522A>T (p.Glu2174Asp) c.6456A>T (p.Glu2152Asp) c.6519A>T (p.Glu2173Asp) c.6516A>T (p.Glu2172Asp) c.6462A>T (p.Glu2154Asp) c.6387A>T (p.Glu2129Asp) c.5982A>T (p.Glu1994Asp) c.5340A>T (p.Glu1780Asp) c.2850A>T (p.Glu950Asp) n.6765A>T | |
10 | g.71793256G>A | CA5546055 | CDH23 | c.6328G>A (p.Ala2110Thr) c.6343G>A (p.Ala2115Thr) c.6523G>A (p.Ala2175Thr) c.6457G>A (p.Ala2153Thr) c.6520G>A (p.Ala2174Thr) c.6517G>A (p.Ala2173Thr) c.6463G>A (p.Ala2155Thr) c.6388G>A (p.Ala2130Thr) c.5983G>A (p.Ala1995Thr) c.5341G>A (p.Ala1781Thr) c.2851G>A (p.Ala951Thr) n.6766G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793256G>C | CA377154334 | CDH23 | c.6328G>C (p.Ala2110Pro) c.6343G>C (p.Ala2115Pro) c.6523G>C (p.Ala2175Pro) c.6457G>C (p.Ala2153Pro) c.6520G>C (p.Ala2174Pro) c.6517G>C (p.Ala2173Pro) c.6463G>C (p.Ala2155Pro) c.6388G>C (p.Ala2130Pro) c.5983G>C (p.Ala1995Pro) c.5341G>C (p.Ala1781Pro) c.2851G>C (p.Ala951Pro) n.6766G>C | dbSNP gnomAD v4 |
10 | g.71793256G= | CA1918874180 | CDH23 | c.6328G= (p.Ala2110=) c.6343G= (p.Ala2115=) c.6523G= (p.Ala2175=) c.6457G= (p.Ala2153=) c.6520G= (p.Ala2174=) c.6517G= (p.Ala2173=) c.6463G= (p.Ala2155=) c.6388G= (p.Ala2130=) c.5983G= (p.Ala1995=) c.5341G= (p.Ala1781=) c.2851G= (p.Ala951=) n.6766G= | |
10 | g.71793256G>T | CA377154330 | CDH23 | c.6328G>T (p.Ala2110Ser) c.6343G>T (p.Ala2115Ser) c.6523G>T (p.Ala2175Ser) c.6457G>T (p.Ala2153Ser) c.6520G>T (p.Ala2174Ser) c.6517G>T (p.Ala2173Ser) c.6463G>T (p.Ala2155Ser) c.6388G>T (p.Ala2130Ser) c.5983G>T (p.Ala1995Ser) c.5341G>T (p.Ala1781Ser) c.2851G>T (p.Ala951Ser) n.6766G>T | |
10 | g.71793257C>A | CA377154336 | CDH23 | c.6329C>A (p.Ala2110Asp) c.6344C>A (p.Ala2115Asp) c.6524C>A (p.Ala2175Asp) c.6458C>A (p.Ala2153Asp) c.6521C>A (p.Ala2174Asp) c.6518C>A (p.Ala2173Asp) c.6464C>A (p.Ala2155Asp) c.6389C>A (p.Ala2130Asp) c.5984C>A (p.Ala1995Asp) c.5342C>A (p.Ala1781Asp) c.2852C>A (p.Ala951Asp) n.6767C>A | |
10 | g.71793257C= | CA1918874182 | CDH23 | c.6329C= (p.Ala2110=) c.6344C= (p.Ala2115=) c.6524C= (p.Ala2175=) c.6458C= (p.Ala2153=) c.6521C= (p.Ala2174=) c.6518C= (p.Ala2173=) c.6464C= (p.Ala2155=) c.6389C= (p.Ala2130=) c.5984C= (p.Ala1995=) c.5342C= (p.Ala1781=) c.2852C= (p.Ala951=) n.6767C= | |
10 | g.71793257C>G | CA377154338 | CDH23 | c.6329C>G (p.Ala2110Gly) c.6344C>G (p.Ala2115Gly) c.6524C>G (p.Ala2175Gly) c.6458C>G (p.Ala2153Gly) c.6521C>G (p.Ala2174Gly) c.6518C>G (p.Ala2173Gly) c.6464C>G (p.Ala2155Gly) c.6389C>G (p.Ala2130Gly) c.5984C>G (p.Ala1995Gly) c.5342C>G (p.Ala1781Gly) c.2852C>G (p.Ala951Gly) n.6767C>G | |
10 | g.71793257C>T | CA137531 | CDH23 | c.6329C>T (p.Ala2110Val) c.6344C>T (p.Ala2115Val) c.6524C>T (p.Ala2175Val) c.6458C>T (p.Ala2153Val) c.6521C>T (p.Ala2174Val) c.6518C>T (p.Ala2173Val) c.6464C>T (p.Ala2155Val) c.6389C>T (p.Ala2130Val) c.5984C>T (p.Ala1995Val) c.5342C>T (p.Ala1781Val) c.2852C>T (p.Ala951Val) n.6767C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793258T>G | CA209465999 | CDH23 | c.6330T>G (p.Ala2110=) c.6345T>G (p.Ala2115=) c.6525T>G (p.Ala2175=) c.6459T>G (p.Ala2153=) c.6522T>G (p.Ala2174=) c.6519T>G (p.Ala2173=) c.6465T>G (p.Ala2155=) c.6390T>G (p.Ala2130=) c.5985T>G (p.Ala1995=) c.5343T>G (p.Ala1781=) c.2853T>G (p.Ala951=) n.6768T>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793258T= | CA1918874184 | CDH23 | c.6330T= (p.Ala2110=) c.6345T= (p.Ala2115=) c.6525T= (p.Ala2175=) c.6459T= (p.Ala2153=) c.6522T= (p.Ala2174=) c.6519T= (p.Ala2173=) c.6465T= (p.Ala2155=) c.6390T= (p.Ala2130=) c.5985T= (p.Ala1995=) c.5343T= (p.Ala1781=) c.2853T= (p.Ala951=) n.6768T= | |
10 | g.71793259G>A | CA377154348 | CDH23 | c.6331G>A (p.Gly2111Arg) c.6346G>A (p.Gly2116Arg) c.6526G>A (p.Gly2176Arg) c.6460G>A (p.Gly2154Arg) c.6523G>A (p.Gly2175Arg) c.6520G>A (p.Gly2174Arg) c.6466G>A (p.Gly2156Arg) c.6391G>A (p.Gly2131Arg) c.5986G>A (p.Gly1996Arg) c.5344G>A (p.Gly1782Arg) c.2854G>A (p.Gly952Arg) n.6769G>A | dbSNP |
10 | g.71793259G>C | CA377154352 | CDH23 | c.6331G>C (p.Gly2111Arg) c.6346G>C (p.Gly2116Arg) c.6526G>C (p.Gly2176Arg) c.6460G>C (p.Gly2154Arg) c.6523G>C (p.Gly2175Arg) c.6520G>C (p.Gly2174Arg) c.6466G>C (p.Gly2156Arg) c.6391G>C (p.Gly2131Arg) c.5986G>C (p.Gly1996Arg) c.5344G>C (p.Gly1782Arg) c.2854G>C (p.Gly952Arg) n.6769G>C | dbSNP |
10 | g.71793259G>T | CA377154357 | CDH23 | c.6331G>T (p.Gly2111Trp) c.6346G>T (p.Gly2116Trp) c.6526G>T (p.Gly2176Trp) c.6460G>T (p.Gly2154Trp) c.6523G>T (p.Gly2175Trp) c.6520G>T (p.Gly2174Trp) c.6466G>T (p.Gly2156Trp) c.6391G>T (p.Gly2131Trp) c.5986G>T (p.Gly1996Trp) c.5344G>T (p.Gly1782Trp) c.2854G>T (p.Gly952Trp) n.6769G>T | |
10 | g.71793262del | CA2609580382 | CDH23 | c.6334del (p.Ala2112LeufsTer?) c.6349del (p.Ala2117LeufsTer?) c.6529del (p.Ala2177LeufsTer?) c.6463del (p.Ala2155LeufsTer?) c.6526del (p.Ala2176LeufsTer?) c.6523del (p.Ala2175LeufsTer?) c.6469del (p.Ala2157LeufsTer?) c.6529del (p.Ala2177LeufsTer22) c.6394del (p.Ala2132LeufsTer?) c.5989del (p.Ala1997LeufsTer?) c.5347del (p.Ala1783LeufsTer?) c.2857del (p.Ala953LeufsTer?) n.6772del | gnomAD v4 |
10 | g.71793260G>A | CA377154360 | CDH23 | c.6332G>A (p.Gly2111Glu) c.6347G>A (p.Gly2116Glu) c.6527G>A (p.Gly2176Glu) c.6461G>A (p.Gly2154Glu) c.6524G>A (p.Gly2175Glu) c.6521G>A (p.Gly2174Glu) c.6467G>A (p.Gly2156Glu) c.6392G>A (p.Gly2131Glu) c.5987G>A (p.Gly1996Glu) c.5345G>A (p.Gly1782Glu) c.2855G>A (p.Gly952Glu) n.6770G>A | dbSNP gnomAD v4 |
10 | g.71793260G>C | CA377154362 | CDH23 | c.6332G>C (p.Gly2111Ala) c.6347G>C (p.Gly2116Ala) c.6527G>C (p.Gly2176Ala) c.6461G>C (p.Gly2154Ala) c.6524G>C (p.Gly2175Ala) c.6521G>C (p.Gly2174Ala) c.6467G>C (p.Gly2156Ala) c.6392G>C (p.Gly2131Ala) c.5987G>C (p.Gly1996Ala) c.5345G>C (p.Gly1782Ala) c.2855G>C (p.Gly952Ala) n.6770G>C | |
10 | g.71793260G>T | CA377154363 | CDH23 | c.6332G>T (p.Gly2111Val) c.6347G>T (p.Gly2116Val) c.6527G>T (p.Gly2176Val) c.6461G>T (p.Gly2154Val) c.6524G>T (p.Gly2175Val) c.6521G>T (p.Gly2174Val) c.6467G>T (p.Gly2156Val) c.6392G>T (p.Gly2131Val) c.5987G>T (p.Gly1996Val) c.5345G>T (p.Gly1782Val) c.2855G>T (p.Gly952Val) n.6770G>T | |
10 | g.71793261G>A | CA5546056 | CDH23 | c.6333G>A (p.Gly2111=) c.6348G>A (p.Gly2116=) c.6528G>A (p.Gly2176=) c.6462G>A (p.Gly2154=) c.6525G>A (p.Gly2175=) c.6522G>A (p.Gly2174=) c.6468G>A (p.Gly2156=) c.6393G>A (p.Gly2131=) c.5988G>A (p.Gly1996=) c.5346G>A (p.Gly1782=) c.2856G>A (p.Gly952=) n.6771G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793261G= | CA1918874186 | CDH23 | c.6333G= (p.Gly2111=) c.6348G= (p.Gly2116=) c.6528G= (p.Gly2176=) c.6462G= (p.Gly2154=) c.6525G= (p.Gly2175=) c.6522G= (p.Gly2174=) c.6468G= (p.Gly2156=) c.6393G= (p.Gly2131=) c.5988G= (p.Gly1996=) c.5346G= (p.Gly1782=) c.2856G= (p.Gly952=) n.6771G= | |
10 | g.71793262G>A | CA5546057 | CDH23 | c.6334G>A (p.Ala2112Thr) c.6349G>A (p.Ala2117Thr) c.6529G>A (p.Ala2177Thr) c.6463G>A (p.Ala2155Thr) c.6526G>A (p.Ala2176Thr) c.6523G>A (p.Ala2175Thr) c.6469G>A (p.Ala2157Thr) c.6394G>A (p.Ala2132Thr) c.5989G>A (p.Ala1997Thr) c.5347G>A (p.Ala1783Thr) c.2857G>A (p.Ala953Thr) n.6772G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793262G>C | CA377154374 | CDH23 | c.6334G>C (p.Ala2112Pro) c.6349G>C (p.Ala2117Pro) c.6529G>C (p.Ala2177Pro) c.6463G>C (p.Ala2155Pro) c.6526G>C (p.Ala2176Pro) c.6523G>C (p.Ala2175Pro) c.6469G>C (p.Ala2157Pro) c.6394G>C (p.Ala2132Pro) c.5989G>C (p.Ala1997Pro) c.5347G>C (p.Ala1783Pro) c.2857G>C (p.Ala953Pro) n.6772G>C | |
10 | g.71793262G= | CA1918874190 | CDH23 | c.6334G= (p.Ala2112=) c.6349G= (p.Ala2117=) c.6529G= (p.Ala2177=) c.6463G= (p.Ala2155=) c.6526G= (p.Ala2176=) c.6523G= (p.Ala2175=) c.6469G= (p.Ala2157=) c.6394G= (p.Ala2132=) c.5989G= (p.Ala1997=) c.5347G= (p.Ala1783=) c.2857G= (p.Ala953=) n.6772G= | |
10 | g.71793262G>T | CA377154376 | CDH23 | c.6334G>T (p.Ala2112Ser) c.6349G>T (p.Ala2117Ser) c.6529G>T (p.Ala2177Ser) c.6463G>T (p.Ala2155Ser) c.6526G>T (p.Ala2176Ser) c.6523G>T (p.Ala2175Ser) c.6469G>T (p.Ala2157Ser) c.6394G>T (p.Ala2132Ser) c.5989G>T (p.Ala1997Ser) c.5347G>T (p.Ala1783Ser) c.2857G>T (p.Ala953Ser) n.6772G>T | gnomAD v4 |
10 | g.71793263C>A | CA377154389 | CDH23 | c.6335C>A (p.Ala2112Asp) c.6350C>A (p.Ala2117Asp) c.6530C>A (p.Ala2177Asp) c.6464C>A (p.Ala2155Asp) c.6527C>A (p.Ala2176Asp) c.6524C>A (p.Ala2175Asp) c.6470C>A (p.Ala2157Asp) c.6395C>A (p.Ala2132Asp) c.5990C>A (p.Ala1997Asp) c.5348C>A (p.Ala1783Asp) c.2858C>A (p.Ala953Asp) n.6773C>A | |
10 | g.71793263C= | CA1918874193 | CDH23 | c.6335C= (p.Ala2112=) c.6350C= (p.Ala2117=) c.6530C= (p.Ala2177=) c.6464C= (p.Ala2155=) c.6527C= (p.Ala2176=) c.6524C= (p.Ala2175=) c.6470C= (p.Ala2157=) c.6395C= (p.Ala2132=) c.5990C= (p.Ala1997=) c.5348C= (p.Ala1783=) c.2858C= (p.Ala953=) n.6773C= | |
10 | g.71793263C>G | CA377154379 | CDH23 | c.6335C>G (p.Ala2112Gly) c.6350C>G (p.Ala2117Gly) c.6530C>G (p.Ala2177Gly) c.6464C>G (p.Ala2155Gly) c.6527C>G (p.Ala2176Gly) c.6524C>G (p.Ala2175Gly) c.6470C>G (p.Ala2157Gly) c.6395C>G (p.Ala2132Gly) c.5990C>G (p.Ala1997Gly) c.5348C>G (p.Ala1783Gly) c.2858C>G (p.Ala953Gly) n.6773C>G | |
10 | g.71793263C>T | CA377154387 | CDH23 | c.6335C>T (p.Ala2112Val) c.6350C>T (p.Ala2117Val) c.6530C>T (p.Ala2177Val) c.6464C>T (p.Ala2155Val) c.6527C>T (p.Ala2176Val) c.6524C>T (p.Ala2175Val) c.6470C>T (p.Ala2157Val) c.6395C>T (p.Ala2132Val) c.5990C>T (p.Ala1997Val) c.5348C>T (p.Ala1783Val) c.2858C>T (p.Ala953Val) n.6773C>T | dbSNP |
10 | g.71793264T>A | CA2722285582 | CDH23 | c.6336T>A (p.Ala2112=) c.6351T>A (p.Ala2117=) c.6531T>A (p.Ala2177=) c.6465T>A (p.Ala2155=) c.6528T>A (p.Ala2176=) c.6525T>A (p.Ala2175=) c.6471T>A (p.Ala2157=) c.6396T>A (p.Ala2132=) c.5991T>A (p.Ala1997=) c.5349T>A (p.Ala1783=) c.2859T>A (p.Ala953=) n.6774T>A | dbSNP |
10 | g.71793264T>C | CA2697558461 | CDH23 | c.6336T>C (p.Ala2112=) c.6351T>C (p.Ala2117=) c.6531T>C (p.Ala2177=) c.6465T>C (p.Ala2155=) c.6528T>C (p.Ala2176=) c.6525T>C (p.Ala2175=) c.6471T>C (p.Ala2157=) c.6396T>C (p.Ala2132=) c.5991T>C (p.Ala1997=) c.5349T>C (p.Ala1783=) c.2859T>C (p.Ala953=) n.6774T>C | ClinVar |
10 | g.71793265C>A | CA377154400 | CDH23 | c.6337C>A (p.Gln2113Lys) c.6352C>A (p.Gln2118Lys) c.6532C>A (p.Gln2178Lys) c.6466C>A (p.Gln2156Lys) c.6529C>A (p.Gln2177Lys) c.6526C>A (p.Gln2176Lys) c.6472C>A (p.Gln2158Lys) c.6397C>A (p.Gln2133Lys) c.5992C>A (p.Gln1998Lys) c.5350C>A (p.Gln1784Lys) c.2860C>A (p.Gln954Lys) n.6775C>A | dbSNP |
10 | g.71793265C= | CA1918874194 | CDH23 | c.6337C= (p.Gln2113=) c.6352C= (p.Gln2118=) c.6532C= (p.Gln2178=) c.6466C= (p.Gln2156=) c.6529C= (p.Gln2177=) c.6526C= (p.Gln2176=) c.6472C= (p.Gln2158=) c.6397C= (p.Gln2133=) c.5992C= (p.Gln1998=) c.5350C= (p.Gln1784=) c.2860C= (p.Gln954=) n.6775C= | |
10 | g.71793265C>G | CA377154407 | CDH23 | c.6337C>G (p.Gln2113Glu) c.6352C>G (p.Gln2118Glu) c.6532C>G (p.Gln2178Glu) c.6466C>G (p.Gln2156Glu) c.6529C>G (p.Gln2177Glu) c.6526C>G (p.Gln2176Glu) c.6472C>G (p.Gln2158Glu) c.6397C>G (p.Gln2133Glu) c.5992C>G (p.Gln1998Glu) c.5350C>G (p.Gln1784Glu) c.2860C>G (p.Gln954Glu) n.6775C>G | |
10 | g.71793265C>T | CA5546058 | CDH23 | c.6337C>T (p.Gln2113Ter) c.6352C>T (p.Gln2118Ter) c.6532C>T (p.Gln2178Ter) c.6466C>T (p.Gln2156Ter) c.6529C>T (p.Gln2177Ter) c.6526C>T (p.Gln2176Ter) c.6472C>T (p.Gln2158Ter) c.6397C>T (p.Gln2133Ter) c.5992C>T (p.Gln1998Ter) c.5350C>T (p.Gln1784Ter) c.2860C>T (p.Gln954Ter) n.6775C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793266A= | CA1918874196 | CDH23 | c.6338A= (p.Gln2113=) c.6353A= (p.Gln2118=) c.6533A= (p.Gln2178=) c.6467A= (p.Gln2156=) c.6530A= (p.Gln2177=) c.6527A= (p.Gln2176=) c.6473A= (p.Gln2158=) c.6398A= (p.Gln2133=) c.5993A= (p.Gln1998=) c.5351A= (p.Gln1784=) c.2861A= (p.Gln954=) n.6776A= | |
10 | g.71793266A>C | CA377154411 | CDH23 | c.6338A>C (p.Gln2113Pro) c.6353A>C (p.Gln2118Pro) c.6533A>C (p.Gln2178Pro) c.6467A>C (p.Gln2156Pro) c.6530A>C (p.Gln2177Pro) c.6527A>C (p.Gln2176Pro) c.6473A>C (p.Gln2158Pro) c.6398A>C (p.Gln2133Pro) c.5993A>C (p.Gln1998Pro) c.5351A>C (p.Gln1784Pro) c.2861A>C (p.Gln954Pro) n.6776A>C | |
10 | g.71793266A>G | CA377154412 | CDH23 | c.6338A>G (p.Gln2113Arg) c.6353A>G (p.Gln2118Arg) c.6533A>G (p.Gln2178Arg) c.6467A>G (p.Gln2156Arg) c.6530A>G (p.Gln2177Arg) c.6527A>G (p.Gln2176Arg) c.6473A>G (p.Gln2158Arg) c.6398A>G (p.Gln2133Arg) c.5993A>G (p.Gln1998Arg) c.5351A>G (p.Gln1784Arg) c.2861A>G (p.Gln954Arg) n.6776A>G | dbSNP gnomAD v4 |
10 | g.71793266A>T | CA209466001 | CDH23 | c.6338A>T (p.Gln2113Leu) c.6353A>T (p.Gln2118Leu) c.6533A>T (p.Gln2178Leu) c.6467A>T (p.Gln2156Leu) c.6530A>T (p.Gln2177Leu) c.6527A>T (p.Gln2176Leu) c.6473A>T (p.Gln2158Leu) c.6398A>T (p.Gln2133Leu) c.5993A>T (p.Gln1998Leu) c.5351A>T (p.Gln1784Leu) c.2861A>T (p.Gln954Leu) n.6776A>T | dbSNP |
10 | g.71793267G>A | CA2580081859 | CDH23 | c.6339G>A (p.Gln2113=) c.6354G>A (p.Gln2118=) c.6534G>A (p.Gln2178=) c.6468G>A (p.Gln2156=) c.6531G>A (p.Gln2177=) c.6528G>A (p.Gln2176=) c.6474G>A (p.Gln2158=) c.6399G>A (p.Gln2133=) c.5994G>A (p.Gln1998=) c.5352G>A (p.Gln1784=) c.2862G>A (p.Gln954=) n.6777G>A | ClinVar |
10 | g.71793267G>C | CA377154421 | CDH23 | c.6339G>C (p.Gln2113His) c.6354G>C (p.Gln2118His) c.6534G>C (p.Gln2178His) c.6468G>C (p.Gln2156His) c.6531G>C (p.Gln2177His) c.6528G>C (p.Gln2176His) c.6474G>C (p.Gln2158His) c.6399G>C (p.Gln2133His) c.5994G>C (p.Gln1998His) c.5352G>C (p.Gln1784His) c.2862G>C (p.Gln954His) n.6777G>C | |
10 | g.71793267G>T | CA377154424 | CDH23 | c.6339G>T (p.Gln2113His) c.6354G>T (p.Gln2118His) c.6534G>T (p.Gln2178His) c.6468G>T (p.Gln2156His) c.6531G>T (p.Gln2177His) c.6528G>T (p.Gln2176His) c.6474G>T (p.Gln2158His) c.6399G>T (p.Gln2133His) c.5994G>T (p.Gln1998His) c.5352G>T (p.Gln1784His) c.2862G>T (p.Gln954His) n.6777G>T | |
10 | g.71793268G>A | CA209466006 | CDH23 | c.6340G>A (p.Asp2114Asn) c.6355G>A (p.Asp2119Asn) c.6535G>A (p.Asp2179Asn) c.6469G>A (p.Asp2157Asn) c.6532G>A (p.Asp2178Asn) c.6529G>A (p.Asp2177Asn) c.6475G>A (p.Asp2159Asn) c.6400G>A (p.Asp2134Asn) c.5995G>A (p.Asp1999Asn) c.5353G>A (p.Asp1785Asn) c.2863G>A (p.Asp955Asn) n.6778G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793268G>C | CA377154427 | CDH23 | c.6340G>C (p.Asp2114His) c.6355G>C (p.Asp2119His) c.6535G>C (p.Asp2179His) c.6469G>C (p.Asp2157His) c.6532G>C (p.Asp2178His) c.6529G>C (p.Asp2177His) c.6475G>C (p.Asp2159His) c.6400G>C (p.Asp2134His) c.5995G>C (p.Asp1999His) c.5353G>C (p.Asp1785His) c.2863G>C (p.Asp955His) n.6778G>C | |
10 | g.71793268G= | CA1918874197 | CDH23 | c.6340G= (p.Asp2114=) c.6355G= (p.Asp2119=) c.6535G= (p.Asp2179=) c.6469G= (p.Asp2157=) c.6532G= (p.Asp2178=) c.6529G= (p.Asp2177=) c.6475G= (p.Asp2159=) c.6400G= (p.Asp2134=) c.5995G= (p.Asp1999=) c.5353G= (p.Asp1785=) c.2863G= (p.Asp955=) n.6778G= | |
10 | g.71793268G>T | CA377154428 | CDH23 | c.6340G>T (p.Asp2114Tyr) c.6355G>T (p.Asp2119Tyr) c.6535G>T (p.Asp2179Tyr) c.6469G>T (p.Asp2157Tyr) c.6532G>T (p.Asp2178Tyr) c.6529G>T (p.Asp2177Tyr) c.6475G>T (p.Asp2159Tyr) c.6400G>T (p.Asp2134Tyr) c.5995G>T (p.Asp1999Tyr) c.5353G>T (p.Asp1785Tyr) c.2863G>T (p.Asp955Tyr) n.6778G>T | |
10 | g.71793269A>C | CA377154431 | CDH23 | c.6341A>C (p.Asp2114Ala) c.6356A>C (p.Asp2119Ala) c.6536A>C (p.Asp2179Ala) c.6470A>C (p.Asp2157Ala) c.6533A>C (p.Asp2178Ala) c.6530A>C (p.Asp2177Ala) c.6476A>C (p.Asp2159Ala) c.6401A>C (p.Asp2134Ala) c.5996A>C (p.Asp1999Ala) c.5354A>C (p.Asp1785Ala) c.2864A>C (p.Asp955Ala) n.6779A>C | |
10 | g.71793269A>G | CA377154433 | CDH23 | c.6341A>G (p.Asp2114Gly) c.6356A>G (p.Asp2119Gly) c.6536A>G (p.Asp2179Gly) c.6470A>G (p.Asp2157Gly) c.6533A>G (p.Asp2178Gly) c.6530A>G (p.Asp2177Gly) c.6476A>G (p.Asp2159Gly) c.6401A>G (p.Asp2134Gly) c.5996A>G (p.Asp1999Gly) c.5354A>G (p.Asp1785Gly) c.2864A>G (p.Asp955Gly) n.6779A>G | |
10 | g.71793269A>T | CA377154430 | CDH23 | c.6341A>T (p.Asp2114Val) c.6356A>T (p.Asp2119Val) c.6536A>T (p.Asp2179Val) c.6470A>T (p.Asp2157Val) c.6533A>T (p.Asp2178Val) c.6530A>T (p.Asp2177Val) c.6476A>T (p.Asp2159Val) c.6401A>T (p.Asp2134Val) c.5996A>T (p.Asp1999Val) c.5354A>T (p.Asp1785Val) c.2864A>T (p.Asp955Val) n.6779A>T | |
10 | g.71793270C>A | CA377154435 | CDH23 | c.6342C>A (p.Asp2114Glu) c.6357C>A (p.Asp2119Glu) c.6537C>A (p.Asp2179Glu) c.6471C>A (p.Asp2157Glu) c.6534C>A (p.Asp2178Glu) c.6531C>A (p.Asp2177Glu) c.6477C>A (p.Asp2159Glu) c.6402C>A (p.Asp2134Glu) c.5997C>A (p.Asp1999Glu) c.5355C>A (p.Asp1785Glu) c.2865C>A (p.Asp955Glu) n.6780C>A | dbSNP |
10 | g.71793270C>G | CA377154437 | CDH23 | c.6342C>G (p.Asp2114Glu) c.6357C>G (p.Asp2119Glu) c.6537C>G (p.Asp2179Glu) c.6471C>G (p.Asp2157Glu) c.6534C>G (p.Asp2178Glu) c.6531C>G (p.Asp2177Glu) c.6477C>G (p.Asp2159Glu) c.6402C>G (p.Asp2134Glu) c.5997C>G (p.Asp1999Glu) c.5355C>G (p.Asp1785Glu) c.2865C>G (p.Asp955Glu) n.6780C>G | |
10 | g.71793271C>A | CA377154440 | CDH23 | c.6343C>A (p.Arg2115Ser) c.6358C>A (p.Arg2120Ser) c.6538C>A (p.Arg2180Ser) c.6472C>A (p.Arg2158Ser) c.6535C>A (p.Arg2179Ser) c.6532C>A (p.Arg2178Ser) c.6478C>A (p.Arg2160Ser) c.6403C>A (p.Arg2135Ser) c.5998C>A (p.Arg2000Ser) c.5356C>A (p.Arg1786Ser) c.2866C>A (p.Arg956Ser) n.6781C>A | ClinVar dbSNP gnomAD v4 COSMIC |
10 | g.71793271C= | CA1918874200 | CDH23 | c.6343C= (p.Arg2115=) c.6358C= (p.Arg2120=) c.6538C= (p.Arg2180=) c.6472C= (p.Arg2158=) c.6535C= (p.Arg2179=) c.6532C= (p.Arg2178=) c.6478C= (p.Arg2160=) c.6403C= (p.Arg2135=) c.5998C= (p.Arg2000=) c.5356C= (p.Arg1786=) c.2866C= (p.Arg956=) n.6781C= | |
10 | g.71793271C>G | CA5546060 | CDH23 | c.6343C>G (p.Arg2115Gly) c.6358C>G (p.Arg2120Gly) c.6538C>G (p.Arg2180Gly) c.6472C>G (p.Arg2158Gly) c.6535C>G (p.Arg2179Gly) c.6532C>G (p.Arg2178Gly) c.6478C>G (p.Arg2160Gly) c.6403C>G (p.Arg2135Gly) c.5998C>G (p.Arg2000Gly) c.5356C>G (p.Arg1786Gly) c.2866C>G (p.Arg956Gly) n.6781C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793271C>T | CA5546059 | CDH23 | c.6343C>T (p.Arg2115Cys) c.6358C>T (p.Arg2120Cys) c.6538C>T (p.Arg2180Cys) c.6472C>T (p.Arg2158Cys) c.6535C>T (p.Arg2179Cys) c.6532C>T (p.Arg2178Cys) c.6478C>T (p.Arg2160Cys) c.6403C>T (p.Arg2135Cys) c.5998C>T (p.Arg2000Cys) c.5356C>T (p.Arg1786Cys) c.2866C>T (p.Arg956Cys) n.6781C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793271_71793272delinsCG | CA1918874202 | CDH23 | c.6343_6344delinsCG (p.Arg2115=) c.6358_6359delinsCG (p.Arg2120=) c.6538_6539delinsCG (p.Arg2180=) c.6472_6473delinsCG (p.Arg2158=) c.6535_6536delinsCG (p.Arg2179=) c.6532_6533delinsCG (p.Arg2178=) c.6478_6479delinsCG (p.Arg2160=) c.6403_6404delinsCG (p.Arg2135=) c.5998_5999delinsCG (p.Arg2000=) c.5356_5357delinsCG (p.Arg1786=) c.2866_2867delinsCG (p.Arg956=) n.6781_6782delinsCG | |
10 | g.71793272del | CA915945955 | CDH23 | c.6344del (p.Arg2115ProfsTer28) c.6359del (p.Arg2120ProfsTer28) c.6539del (p.Arg2180ProfsTer28) c.6473del (p.Arg2158ProfsTer28) c.6536del (p.Arg2179ProfsTer28) c.6533del (p.Arg2178ProfsTer28) c.6479del (p.Arg2160ProfsTer28) c.6539del (p.Arg2180ProfsTer19) c.6404del (p.Arg2135ProfsTer28) c.5999del (p.Arg2000ProfsTer28) c.5357del (p.Arg1786ProfsTer28) c.2867del (p.Arg956ProfsTer28) n.6782del | ClinVar dbSNP gnomAD v4 |
10 | g.71793272G>A | CA377154451 | CDH23 | c.6344G>A (p.Arg2115His) c.6359G>A (p.Arg2120His) c.6539G>A (p.Arg2180His) c.6473G>A (p.Arg2158His) c.6536G>A (p.Arg2179His) c.6533G>A (p.Arg2178His) c.6479G>A (p.Arg2160His) c.6404G>A (p.Arg2135His) c.5999G>A (p.Arg2000His) c.5357G>A (p.Arg1786His) c.2867G>A (p.Arg956His) n.6782G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793272G>C | CA377154452 | CDH23 | c.6344G>C (p.Arg2115Pro) c.6359G>C (p.Arg2120Pro) c.6539G>C (p.Arg2180Pro) c.6473G>C (p.Arg2158Pro) c.6536G>C (p.Arg2179Pro) c.6533G>C (p.Arg2178Pro) c.6479G>C (p.Arg2160Pro) c.6404G>C (p.Arg2135Pro) c.5999G>C (p.Arg2000Pro) c.5357G>C (p.Arg1786Pro) c.2867G>C (p.Arg956Pro) n.6782G>C | |
10 | g.71793272G= | CA1918874207 | CDH23 | c.6344G= (p.Arg2115=) c.6359G= (p.Arg2120=) c.6539G= (p.Arg2180=) c.6473G= (p.Arg2158=) c.6536G= (p.Arg2179=) c.6533G= (p.Arg2178=) c.6479G= (p.Arg2160=) c.6404G= (p.Arg2135=) c.5999G= (p.Arg2000=) c.5357G= (p.Arg1786=) c.2867G= (p.Arg956=) n.6782G= | |
10 | g.71793272G>T | CA377154454 | CDH23 | c.6344G>T (p.Arg2115Leu) c.6359G>T (p.Arg2120Leu) c.6539G>T (p.Arg2180Leu) c.6473G>T (p.Arg2158Leu) c.6536G>T (p.Arg2179Leu) c.6533G>T (p.Arg2178Leu) c.6479G>T (p.Arg2160Leu) c.6404G>T (p.Arg2135Leu) c.5999G>T (p.Arg2000Leu) c.5357G>T (p.Arg1786Leu) c.2867G>T (p.Arg956Leu) n.6782G>T | gnomAD v4 |
10 | g.71793272_71793273delinsGC | CA1918874208 | CDH23 | c.6344_6345delinsGC (p.Arg2115=) c.6359_6360delinsGC (p.Arg2120=) c.6539_6540delinsGC (p.Arg2180=) c.6473_6474delinsGC (p.Arg2158=) c.6536_6537delinsGC (p.Arg2179=) c.6533_6534delinsGC (p.Arg2178=) c.6479_6480delinsGC (p.Arg2160=) c.6404_6405delinsGC (p.Arg2135=) c.5999_6000delinsGC (p.Arg2000=) c.5357_5358delinsGC (p.Arg1786=) c.2867_2868delinsGC (p.Arg956=) n.6782_6783delinsGC | |
10 | g.71793273del | CA916083138 | CDH23 | c.6345del (p.Phe2116SerfsTer27) c.6360del (p.Phe2121SerfsTer27) c.6540del (p.Phe2181SerfsTer27) c.6474del (p.Phe2159SerfsTer27) c.6537del (p.Phe2180SerfsTer27) c.6534del (p.Phe2179SerfsTer27) c.6480del (p.Phe2161SerfsTer27) c.6540del (p.Phe2181SerfsTer18) c.6405del (p.Phe2136SerfsTer27) c.6000del (p.Phe2001SerfsTer27) c.5358del (p.Phe1787SerfsTer27) c.2868del (p.Phe957SerfsTer27) n.6783del | ClinVar dbSNP |
10 | g.71793273C>T | CA2609580403 | CDH23 | c.6345C>T (p.Arg2115=) c.6360C>T (p.Arg2120=) c.6540C>T (p.Arg2180=) c.6474C>T (p.Arg2158=) c.6537C>T (p.Arg2179=) c.6534C>T (p.Arg2178=) c.6480C>T (p.Arg2160=) c.6405C>T (p.Arg2135=) c.6000C>T (p.Arg2000=) c.5358C>T (p.Arg1786=) c.2868C>T (p.Arg956=) n.6783C>T | gnomAD v4 |
10 | g.71793274T>A | CA377154458 | CDH23 | c.6346T>A (p.Phe2116Ile) c.6361T>A (p.Phe2121Ile) c.6541T>A (p.Phe2181Ile) c.6475T>A (p.Phe2159Ile) c.6538T>A (p.Phe2180Ile) c.6535T>A (p.Phe2179Ile) c.6481T>A (p.Phe2161Ile) c.6406T>A (p.Phe2136Ile) c.6001T>A (p.Phe2001Ile) c.5359T>A (p.Phe1787Ile) c.2869T>A (p.Phe957Ile) n.6784T>A | |
10 | g.71793274T>C | CA377154460 | CDH23 | c.6346T>C (p.Phe2116Leu) c.6361T>C (p.Phe2121Leu) c.6541T>C (p.Phe2181Leu) c.6475T>C (p.Phe2159Leu) c.6538T>C (p.Phe2180Leu) c.6535T>C (p.Phe2179Leu) c.6481T>C (p.Phe2161Leu) c.6406T>C (p.Phe2136Leu) c.6001T>C (p.Phe2001Leu) c.5359T>C (p.Phe1787Leu) c.2869T>C (p.Phe957Leu) n.6784T>C | gnomAD v4 |
10 | g.71793274T>G | CA377154463 | CDH23 | c.6346T>G (p.Phe2116Val) c.6361T>G (p.Phe2121Val) c.6541T>G (p.Phe2181Val) c.6475T>G (p.Phe2159Val) c.6538T>G (p.Phe2180Val) c.6535T>G (p.Phe2179Val) c.6481T>G (p.Phe2161Val) c.6406T>G (p.Phe2136Val) c.6001T>G (p.Phe2001Val) c.5359T>G (p.Phe1787Val) c.2869T>G (p.Phe957Val) n.6784T>G | |
10 | g.71793274_71793275del | CA2695199527 | CDH23 | c.6346_6347del (p.Phe2116ProfsTer13) c.6361_6362del (p.Phe2121ProfsTer13) c.6541_6542del (p.Phe2181ProfsTer13) c.6475_6476del (p.Phe2159ProfsTer13) c.6538_6539del (p.Phe2180ProfsTer13) c.6535_6536del (p.Phe2179ProfsTer13) c.6481_6482del (p.Phe2161ProfsTer13) c.6541_6542del (p.Phe2181ProfsTer20) c.6406_6407del (p.Phe2136ProfsTer13) c.6001_6002del (p.Phe2001ProfsTer13) c.5359_5360del (p.Phe1787ProfsTer13) c.2869_2870del (p.Phe957ProfsTer13) n.6784_6785del | ClinVar |
10 | g.71793275T>A | CA377154465 | CDH23 | c.6347T>A (p.Phe2116Tyr) c.6362T>A (p.Phe2121Tyr) c.6542T>A (p.Phe2181Tyr) c.6476T>A (p.Phe2159Tyr) c.6539T>A (p.Phe2180Tyr) c.6536T>A (p.Phe2179Tyr) c.6482T>A (p.Phe2161Tyr) c.6407T>A (p.Phe2136Tyr) c.6002T>A (p.Phe2001Tyr) c.5360T>A (p.Phe1787Tyr) c.2870T>A (p.Phe957Tyr) n.6785T>A | |
10 | g.71793275T>C | CA377154466 | CDH23 | c.6347T>C (p.Phe2116Ser) c.6362T>C (p.Phe2121Ser) c.6542T>C (p.Phe2181Ser) c.6476T>C (p.Phe2159Ser) c.6539T>C (p.Phe2180Ser) c.6536T>C (p.Phe2179Ser) c.6482T>C (p.Phe2161Ser) c.6407T>C (p.Phe2136Ser) c.6002T>C (p.Phe2001Ser) c.5360T>C (p.Phe1787Ser) c.2870T>C (p.Phe957Ser) n.6785T>C | |
10 | g.71793275T>G | CA377154468 | CDH23 | c.6347T>G (p.Phe2116Cys) c.6362T>G (p.Phe2121Cys) c.6542T>G (p.Phe2181Cys) c.6476T>G (p.Phe2159Cys) c.6539T>G (p.Phe2180Cys) c.6536T>G (p.Phe2179Cys) c.6482T>G (p.Phe2161Cys) c.6407T>G (p.Phe2136Cys) c.6002T>G (p.Phe2001Cys) c.5360T>G (p.Phe1787Cys) c.2870T>G (p.Phe957Cys) n.6785T>G | |
10 | g.71793276C>A | CA377154471 | CDH23 | c.6348C>A (p.Phe2116Leu) c.6363C>A (p.Phe2121Leu) c.6543C>A (p.Phe2181Leu) c.6477C>A (p.Phe2159Leu) c.6540C>A (p.Phe2180Leu) c.6537C>A (p.Phe2179Leu) c.6483C>A (p.Phe2161Leu) c.6408C>A (p.Phe2136Leu) c.6003C>A (p.Phe2001Leu) c.5361C>A (p.Phe1787Leu) c.2871C>A (p.Phe957Leu) n.6786C>A | |
10 | g.71793276C= | CA1918874212 | CDH23 | c.6348C= (p.Phe2116=) c.6363C= (p.Phe2121=) c.6543C= (p.Phe2181=) c.6477C= (p.Phe2159=) c.6540C= (p.Phe2180=) c.6537C= (p.Phe2179=) c.6483C= (p.Phe2161=) c.6408C= (p.Phe2136=) c.6003C= (p.Phe2001=) c.5361C= (p.Phe1787=) c.2871C= (p.Phe957=) n.6786C= | |
10 | g.71793276C>G | CA209466023 | CDH23 | c.6348C>G (p.Phe2116Leu) c.6363C>G (p.Phe2121Leu) c.6543C>G (p.Phe2181Leu) c.6477C>G (p.Phe2159Leu) c.6540C>G (p.Phe2180Leu) c.6537C>G (p.Phe2179Leu) c.6483C>G (p.Phe2161Leu) c.6408C>G (p.Phe2136Leu) c.6003C>G (p.Phe2001Leu) c.5361C>G (p.Phe1787Leu) c.2871C>G (p.Phe957Leu) n.6786C>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793276C>T | CA645559613 | CDH23 | c.6348C>T (p.Phe2116=) c.6363C>T (p.Phe2121=) c.6543C>T (p.Phe2181=) c.6477C>T (p.Phe2159=) c.6540C>T (p.Phe2180=) c.6537C>T (p.Phe2179=) c.6483C>T (p.Phe2161=) c.6408C>T (p.Phe2136=) c.6003C>T (p.Phe2001=) c.5361C>T (p.Phe1787=) c.2871C>T (p.Phe957=) n.6786C>T | ClinVar dbSNP COSMIC |
10 | g.71793277C>A | CA377154475 | CDH23 | c.6349C>A (p.Leu2117Ile) c.6364C>A (p.Leu2122Ile) c.6544C>A (p.Leu2182Ile) c.6478C>A (p.Leu2160Ile) c.6541C>A (p.Leu2181Ile) c.6538C>A (p.Leu2180Ile) c.6484C>A (p.Leu2162Ile) c.6409C>A (p.Leu2137Ile) c.6004C>A (p.Leu2002Ile) c.5362C>A (p.Leu1788Ile) c.2872C>A (p.Leu958Ile) n.6787C>A | |
10 | g.71793277C>G | CA377154478 | CDH23 | c.6349C>G (p.Leu2117Val) c.6364C>G (p.Leu2122Val) c.6544C>G (p.Leu2182Val) c.6478C>G (p.Leu2160Val) c.6541C>G (p.Leu2181Val) c.6538C>G (p.Leu2180Val) c.6484C>G (p.Leu2162Val) c.6409C>G (p.Leu2137Val) c.6004C>G (p.Leu2002Val) c.5362C>G (p.Leu1788Val) c.2872C>G (p.Leu958Val) n.6787C>G | |
10 | g.71793277C>T | CA377154487 | CDH23 | c.6349C>T (p.Leu2117Phe) c.6364C>T (p.Leu2122Phe) c.6544C>T (p.Leu2182Phe) c.6478C>T (p.Leu2160Phe) c.6541C>T (p.Leu2181Phe) c.6538C>T (p.Leu2180Phe) c.6484C>T (p.Leu2162Phe) c.6409C>T (p.Leu2137Phe) c.6004C>T (p.Leu2002Phe) c.5362C>T (p.Leu1788Phe) c.2872C>T (p.Leu958Phe) n.6787C>T | |
10 | g.71793278T>A | CA377154489 | CDH23 | c.6350T>A (p.Leu2117His) c.6365T>A (p.Leu2122His) c.6545T>A (p.Leu2182His) c.6479T>A (p.Leu2160His) c.6542T>A (p.Leu2181His) c.6539T>A (p.Leu2180His) c.6485T>A (p.Leu2162His) c.6410T>A (p.Leu2137His) c.6005T>A (p.Leu2002His) c.5363T>A (p.Leu1788His) c.2873T>A (p.Leu958His) n.6788T>A | |
10 | g.71793278T>C | CA377154492 | CDH23 | c.6350T>C (p.Leu2117Pro) c.6365T>C (p.Leu2122Pro) c.6545T>C (p.Leu2182Pro) c.6479T>C (p.Leu2160Pro) c.6542T>C (p.Leu2181Pro) c.6539T>C (p.Leu2180Pro) c.6485T>C (p.Leu2162Pro) c.6410T>C (p.Leu2137Pro) c.6005T>C (p.Leu2002Pro) c.5363T>C (p.Leu1788Pro) c.2873T>C (p.Leu958Pro) n.6788T>C | |
10 | g.71793278T>G | CA377154493 | CDH23 | c.6350T>G (p.Leu2117Arg) c.6365T>G (p.Leu2122Arg) c.6545T>G (p.Leu2182Arg) c.6479T>G (p.Leu2160Arg) c.6542T>G (p.Leu2181Arg) c.6539T>G (p.Leu2180Arg) c.6485T>G (p.Leu2162Arg) c.6410T>G (p.Leu2137Arg) c.6005T>G (p.Leu2002Arg) c.5363T>G (p.Leu1788Arg) c.2873T>G (p.Leu958Arg) n.6788T>G | |
10 | g.71793279C= | CA1918874214 | CDH23 | c.6351C= (p.Leu2117=) c.6366C= (p.Leu2122=) c.6546C= (p.Leu2182=) c.6480C= (p.Leu2160=) c.6543C= (p.Leu2181=) c.6540C= (p.Leu2180=) c.6486C= (p.Leu2162=) c.6411C= (p.Leu2137=) c.6006C= (p.Leu2002=) c.5364C= (p.Leu1788=) c.2874C= (p.Leu958=) n.6789C= | |
10 | g.71793279C>T | CA929791299 | CDH23 | c.6351C>T (p.Leu2117=) c.6366C>T (p.Leu2122=) c.6546C>T (p.Leu2182=) c.6480C>T (p.Leu2160=) c.6543C>T (p.Leu2181=) c.6540C>T (p.Leu2180=) c.6486C>T (p.Leu2162=) c.6411C>T (p.Leu2137=) c.6006C>T (p.Leu2002=) c.5364C>T (p.Leu1788=) c.2874C>T (p.Leu958=) n.6789C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793280A= | CA1918874215 | CDH23 | c.6352A= (p.Ile2118=) c.6367A= (p.Ile2123=) c.6547A= (p.Ile2183=) c.6481A= (p.Ile2161=) c.6544A= (p.Ile2182=) c.6541A= (p.Ile2181=) c.6487A= (p.Ile2163=) c.6412A= (p.Ile2138=) c.6007A= (p.Ile2003=) c.5365A= (p.Ile1789=) c.2875A= (p.Ile959=) n.6790A= | |
10 | g.71793280A>C | CA377154495 | CDH23 | c.6352A>C (p.Ile2118Leu) c.6367A>C (p.Ile2123Leu) c.6547A>C (p.Ile2183Leu) c.6481A>C (p.Ile2161Leu) c.6544A>C (p.Ile2182Leu) c.6541A>C (p.Ile2181Leu) c.6487A>C (p.Ile2163Leu) c.6412A>C (p.Ile2138Leu) c.6007A>C (p.Ile2003Leu) c.5365A>C (p.Ile1789Leu) c.2875A>C (p.Ile959Leu) n.6790A>C | |
10 | g.71793280A>G | CA377154498 | CDH23 | c.6352A>G (p.Ile2118Val) c.6367A>G (p.Ile2123Val) c.6547A>G (p.Ile2183Val) c.6481A>G (p.Ile2161Val) c.6544A>G (p.Ile2182Val) c.6541A>G (p.Ile2181Val) c.6487A>G (p.Ile2163Val) c.6412A>G (p.Ile2138Val) c.6007A>G (p.Ile2003Val) c.5365A>G (p.Ile1789Val) c.2875A>G (p.Ile959Val) n.6790A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793280A>T | CA377154499 | CDH23 | c.6352A>T (p.Ile2118Phe) c.6367A>T (p.Ile2123Phe) c.6547A>T (p.Ile2183Phe) c.6481A>T (p.Ile2161Phe) c.6544A>T (p.Ile2182Phe) c.6541A>T (p.Ile2181Phe) c.6487A>T (p.Ile2163Phe) c.6412A>T (p.Ile2138Phe) c.6007A>T (p.Ile2003Phe) c.5365A>T (p.Ile1789Phe) c.2875A>T (p.Ile959Phe) n.6790A>T | gnomAD v4 |
10 | g.71793281T>A | CA377154502 | CDH23 | c.6353T>A (p.Ile2118Asn) c.6368T>A (p.Ile2123Asn) c.6548T>A (p.Ile2183Asn) c.6482T>A (p.Ile2161Asn) c.6545T>A (p.Ile2182Asn) c.6542T>A (p.Ile2181Asn) c.6488T>A (p.Ile2163Asn) c.6413T>A (p.Ile2138Asn) c.6008T>A (p.Ile2003Asn) c.5366T>A (p.Ile1789Asn) c.2876T>A (p.Ile959Asn) n.6791T>A | COSMIC |
10 | g.71793281T>C | CA377154506 | CDH23 | c.6353T>C (p.Ile2118Thr) c.6368T>C (p.Ile2123Thr) c.6548T>C (p.Ile2183Thr) c.6482T>C (p.Ile2161Thr) c.6545T>C (p.Ile2182Thr) c.6542T>C (p.Ile2181Thr) c.6488T>C (p.Ile2163Thr) c.6413T>C (p.Ile2138Thr) c.6008T>C (p.Ile2003Thr) c.5366T>C (p.Ile1789Thr) c.2876T>C (p.Ile959Thr) n.6791T>C | |
10 | g.71793281T>G | CA377154507 | CDH23 | c.6353T>G (p.Ile2118Ser) c.6368T>G (p.Ile2123Ser) c.6548T>G (p.Ile2183Ser) c.6482T>G (p.Ile2161Ser) c.6545T>G (p.Ile2182Ser) c.6542T>G (p.Ile2181Ser) c.6488T>G (p.Ile2163Ser) c.6413T>G (p.Ile2138Ser) c.6008T>G (p.Ile2003Ser) c.5366T>G (p.Ile1789Ser) c.2876T>G (p.Ile959Ser) n.6791T>G | |
10 | g.71793282T>C | CA915945956 | CDH23 | c.6354T>C (p.Ile2118=) c.6369T>C (p.Ile2123=) c.6549T>C (p.Ile2183=) c.6483T>C (p.Ile2161=) c.6546T>C (p.Ile2182=) c.6543T>C (p.Ile2181=) c.6489T>C (p.Ile2163=) c.6414T>C (p.Ile2138=) c.6009T>C (p.Ile2003=) c.5367T>C (p.Ile1789=) c.2877T>C (p.Ile959=) n.6792T>C | ClinVar dbSNP |
10 | g.71793282T>G | CA377154509 | CDH23 | c.6354T>G (p.Ile2118Met) c.6369T>G (p.Ile2123Met) c.6549T>G (p.Ile2183Met) c.6483T>G (p.Ile2161Met) c.6546T>G (p.Ile2182Met) c.6543T>G (p.Ile2181Met) c.6489T>G (p.Ile2163Met) c.6414T>G (p.Ile2138Met) c.6009T>G (p.Ile2003Met) c.5367T>G (p.Ile1789Met) c.2877T>G (p.Ile959Met) n.6792T>G | |
10 | g.71793282T= | CA1918874217 | CDH23 | c.6354T= (p.Ile2118=) c.6369T= (p.Ile2123=) c.6549T= (p.Ile2183=) c.6483T= (p.Ile2161=) c.6546T= (p.Ile2182=) c.6543T= (p.Ile2181=) c.6489T= (p.Ile2163=) c.6414T= (p.Ile2138=) c.6009T= (p.Ile2003=) c.5367T= (p.Ile1789=) c.2877T= (p.Ile959=) n.6792T= | |
10 | g.71793283C>A | CA377154530 | CDH23 | c.6355C>A (p.His2119Asn) c.6370C>A (p.His2124Asn) c.6550C>A (p.His2184Asn) c.6484C>A (p.His2162Asn) c.6547C>A (p.His2183Asn) c.6544C>A (p.His2182Asn) c.6490C>A (p.His2164Asn) c.6415C>A (p.His2139Asn) c.6010C>A (p.His2004Asn) c.5368C>A (p.His1790Asn) c.2878C>A (p.His960Asn) n.6793C>A | |
10 | g.71793283C>G | CA377154533 | CDH23 | c.6355C>G (p.His2119Asp) c.6370C>G (p.His2124Asp) c.6550C>G (p.His2184Asp) c.6484C>G (p.His2162Asp) c.6547C>G (p.His2183Asp) c.6544C>G (p.His2182Asp) c.6490C>G (p.His2164Asp) c.6415C>G (p.His2139Asp) c.6010C>G (p.His2004Asp) c.5368C>G (p.His1790Asp) c.2878C>G (p.His960Asp) n.6793C>G | |
10 | g.71793283C>T | CA377154512 | CDH23 | c.6355C>T (p.His2119Tyr) c.6370C>T (p.His2124Tyr) c.6550C>T (p.His2184Tyr) c.6484C>T (p.His2162Tyr) c.6547C>T (p.His2183Tyr) c.6544C>T (p.His2182Tyr) c.6490C>T (p.His2164Tyr) c.6415C>T (p.His2139Tyr) c.6010C>T (p.His2004Tyr) c.5368C>T (p.His1790Tyr) c.2878C>T (p.His960Tyr) n.6793C>T | gnomAD v4 |
10 | g.71793284A>C | CA377154535 | CDH23 | c.6356A>C (p.His2119Pro) c.6371A>C (p.His2124Pro) c.6551A>C (p.His2184Pro) c.6485A>C (p.His2162Pro) c.6548A>C (p.His2183Pro) c.6545A>C (p.His2182Pro) c.6491A>C (p.His2164Pro) c.6416A>C (p.His2139Pro) c.6011A>C (p.His2004Pro) c.5369A>C (p.His1790Pro) c.2879A>C (p.His960Pro) n.6794A>C | gnomAD v4 |
10 | g.71793284A>G | CA377154538 | CDH23 | c.6356A>G (p.His2119Arg) c.6371A>G (p.His2124Arg) c.6551A>G (p.His2184Arg) c.6485A>G (p.His2162Arg) c.6548A>G (p.His2183Arg) c.6545A>G (p.His2182Arg) c.6491A>G (p.His2164Arg) c.6416A>G (p.His2139Arg) c.6011A>G (p.His2004Arg) c.5369A>G (p.His1790Arg) c.2879A>G (p.His960Arg) n.6794A>G | |
10 | g.71793284A>T | CA377154540 | CDH23 | c.6356A>T (p.His2119Leu) c.6371A>T (p.His2124Leu) c.6551A>T (p.His2184Leu) c.6485A>T (p.His2162Leu) c.6548A>T (p.His2183Leu) c.6545A>T (p.His2182Leu) c.6491A>T (p.His2164Leu) c.6416A>T (p.His2139Leu) c.6011A>T (p.His2004Leu) c.5369A>T (p.His1790Leu) c.2879A>T (p.His960Leu) n.6794A>T | |
10 | g.71793285T>A | CA377154541 | CDH23 | c.6357T>A (p.His2119Gln) c.6372T>A (p.His2124Gln) c.6552T>A (p.His2184Gln) c.6486T>A (p.His2162Gln) c.6549T>A (p.His2183Gln) c.6546T>A (p.His2182Gln) c.6492T>A (p.His2164Gln) c.6417T>A (p.His2139Gln) c.6012T>A (p.His2004Gln) c.5370T>A (p.His1790Gln) c.2880T>A (p.His960Gln) n.6795T>A | |
10 | g.71793285T>G | CA377154543 | CDH23 | c.6357T>G (p.His2119Gln) c.6372T>G (p.His2124Gln) c.6552T>G (p.His2184Gln) c.6486T>G (p.His2162Gln) c.6549T>G (p.His2183Gln) c.6546T>G (p.His2182Gln) c.6492T>G (p.His2164Gln) c.6417T>G (p.His2139Gln) c.6012T>G (p.His2004Gln) c.5370T>G (p.His1790Gln) c.2880T>G (p.His960Gln) n.6795T>G | |
10 | g.71793286C>A | CA377154546 | CDH23 | c.6358C>A (p.Leu2120Met) c.6373C>A (p.Leu2125Met) c.6553C>A (p.Leu2185Met) c.6487C>A (p.Leu2163Met) c.6550C>A (p.Leu2184Met) c.6547C>A (p.Leu2183Met) c.6493C>A (p.Leu2165Met) c.6418C>A (p.Leu2140Met) c.6013C>A (p.Leu2005Met) c.5371C>A (p.Leu1791Met) c.2881C>A (p.Leu961Met) n.6796C>A | |
10 | g.71793286C= | CA1918874218 | CDH23 | c.6358C= (p.Leu2120=) c.6373C= (p.Leu2125=) c.6553C= (p.Leu2185=) c.6487C= (p.Leu2163=) c.6550C= (p.Leu2184=) c.6547C= (p.Leu2183=) c.6493C= (p.Leu2165=) c.6418C= (p.Leu2140=) c.6013C= (p.Leu2005=) c.5371C= (p.Leu1791=) c.2881C= (p.Leu961=) n.6796C= | |
10 | g.71793286C>G | CA377154548 | CDH23 | c.6358C>G (p.Leu2120Val) c.6373C>G (p.Leu2125Val) c.6553C>G (p.Leu2185Val) c.6487C>G (p.Leu2163Val) c.6550C>G (p.Leu2184Val) c.6547C>G (p.Leu2183Val) c.6493C>G (p.Leu2165Val) c.6418C>G (p.Leu2140Val) c.6013C>G (p.Leu2005Val) c.5371C>G (p.Leu1791Val) c.2881C>G (p.Leu961Val) n.6796C>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793286C>T | CA1918874220 | CDH23 | c.6358C>T (p.Leu2120=) c.6373C>T (p.Leu2125=) c.6553C>T (p.Leu2185=) c.6487C>T (p.Leu2163=) c.6550C>T (p.Leu2184=) c.6547C>T (p.Leu2183=) c.6493C>T (p.Leu2165=) c.6418C>T (p.Leu2140=) c.6013C>T (p.Leu2005=) c.5371C>T (p.Leu1791=) c.2881C>T (p.Leu961=) n.6796C>T | dbSNP gnomAD v4 |
10 | g.71793287T>A | CA377154550 | CDH23 | c.6359T>A (p.Leu2120Gln) c.6374T>A (p.Leu2125Gln) c.6554T>A (p.Leu2185Gln) c.6488T>A (p.Leu2163Gln) c.6551T>A (p.Leu2184Gln) c.6548T>A (p.Leu2183Gln) c.6494T>A (p.Leu2165Gln) c.6419T>A (p.Leu2140Gln) c.6014T>A (p.Leu2005Gln) c.5372T>A (p.Leu1791Gln) c.2882T>A (p.Leu961Gln) n.6797T>A | |
10 | g.71793287T>C | CA377154551 | CDH23 | c.6359T>C (p.Leu2120Pro) c.6374T>C (p.Leu2125Pro) c.6554T>C (p.Leu2185Pro) c.6488T>C (p.Leu2163Pro) c.6551T>C (p.Leu2184Pro) c.6548T>C (p.Leu2183Pro) c.6494T>C (p.Leu2165Pro) c.6419T>C (p.Leu2140Pro) c.6014T>C (p.Leu2005Pro) c.5372T>C (p.Leu1791Pro) c.2882T>C (p.Leu961Pro) n.6797T>C | |
10 | g.71793287T>G | CA377154554 | CDH23 | c.6359T>G (p.Leu2120Arg) c.6374T>G (p.Leu2125Arg) c.6554T>G (p.Leu2185Arg) c.6488T>G (p.Leu2163Arg) c.6551T>G (p.Leu2184Arg) c.6548T>G (p.Leu2183Arg) c.6494T>G (p.Leu2165Arg) c.6419T>G (p.Leu2140Arg) c.6014T>G (p.Leu2005Arg) c.5372T>G (p.Leu1791Arg) c.2882T>G (p.Leu961Arg) n.6797T>G | |
10 | g.71793289G>A | CA377154556 | CDH23 | c.6361G>A (p.Val2121Ile) c.6376G>A (p.Val2126Ile) c.6556G>A (p.Val2186Ile) c.6490G>A (p.Val2164Ile) c.6553G>A (p.Val2185Ile) c.6550G>A (p.Val2184Ile) c.6496G>A (p.Val2166Ile) c.6421G>A (p.Val2141Ile) c.6016G>A (p.Val2006Ile) c.5374G>A (p.Val1792Ile) c.2884G>A (p.Val962Ile) n.6799G>A | |
10 | g.71793289G>C | CA377154558 | CDH23 | c.6361G>C (p.Val2121Leu) c.6376G>C (p.Val2126Leu) c.6556G>C (p.Val2186Leu) c.6490G>C (p.Val2164Leu) c.6553G>C (p.Val2185Leu) c.6550G>C (p.Val2184Leu) c.6496G>C (p.Val2166Leu) c.6421G>C (p.Val2141Leu) c.6016G>C (p.Val2006Leu) c.5374G>C (p.Val1792Leu) c.2884G>C (p.Val962Leu) n.6799G>C | |
10 | g.71793289G>T | CA377154560 | CDH23 | c.6361G>T (p.Val2121Phe) c.6376G>T (p.Val2126Phe) c.6556G>T (p.Val2186Phe) c.6490G>T (p.Val2164Phe) c.6553G>T (p.Val2185Phe) c.6550G>T (p.Val2184Phe) c.6496G>T (p.Val2166Phe) c.6421G>T (p.Val2141Phe) c.6016G>T (p.Val2006Phe) c.5374G>T (p.Val1792Phe) c.2884G>T (p.Val962Phe) n.6799G>T | |
10 | g.71793290T>A | CA377154567 | CDH23 | c.6362T>A (p.Val2121Asp) c.6377T>A (p.Val2126Asp) c.6557T>A (p.Val2186Asp) c.6491T>A (p.Val2164Asp) c.6554T>A (p.Val2185Asp) c.6551T>A (p.Val2184Asp) c.6497T>A (p.Val2166Asp) c.6422T>A (p.Val2141Asp) c.6017T>A (p.Val2006Asp) c.5375T>A (p.Val1792Asp) c.2885T>A (p.Val962Asp) n.6800T>A | |
10 | g.71793290T>C | CA377154566 | CDH23 | c.6362T>C (p.Val2121Ala) c.6377T>C (p.Val2126Ala) c.6557T>C (p.Val2186Ala) c.6491T>C (p.Val2164Ala) c.6554T>C (p.Val2185Ala) c.6551T>C (p.Val2184Ala) c.6497T>C (p.Val2166Ala) c.6422T>C (p.Val2141Ala) c.6017T>C (p.Val2006Ala) c.5375T>C (p.Val1792Ala) c.2885T>C (p.Val962Ala) n.6800T>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793290T>G | CA377154563 | CDH23 | c.6362T>G (p.Val2121Gly) c.6377T>G (p.Val2126Gly) c.6557T>G (p.Val2186Gly) c.6491T>G (p.Val2164Gly) c.6554T>G (p.Val2185Gly) c.6551T>G (p.Val2184Gly) c.6497T>G (p.Val2166Gly) c.6422T>G (p.Val2141Gly) c.6017T>G (p.Val2006Gly) c.5375T>G (p.Val1792Gly) c.2885T>G (p.Val962Gly) n.6800T>G | |
10 | g.71793290T= | CA1918874222 | CDH23 | c.6362T= (p.Val2121=) c.6377T= (p.Val2126=) c.6557T= (p.Val2186=) c.6491T= (p.Val2164=) c.6554T= (p.Val2185=) c.6551T= (p.Val2184=) c.6497T= (p.Val2166=) c.6422T= (p.Val2141=) c.6017T= (p.Val2006=) c.5375T= (p.Val1792=) c.2885T= (p.Val962=) n.6800T= | |
10 | g.71793291C>A | CA2722018818 | CDH23 | c.6363C>A (p.Val2121=) c.6378C>A (p.Val2126=) c.6558C>A (p.Val2186=) c.6492C>A (p.Val2164=) c.6555C>A (p.Val2185=) c.6552C>A (p.Val2184=) c.6498C>A (p.Val2166=) c.6423C>A (p.Val2141=) c.6018C>A (p.Val2006=) c.5376C>A (p.Val1792=) c.2886C>A (p.Val962=) n.6801C>A | dbSNP |
10 | g.71793291C= | CA1918874223 | CDH23 | c.6363C= (p.Val2121=) c.6378C= (p.Val2126=) c.6558C= (p.Val2186=) c.6492C= (p.Val2164=) c.6555C= (p.Val2185=) c.6552C= (p.Val2184=) c.6498C= (p.Val2166=) c.6423C= (p.Val2141=) c.6018C= (p.Val2006=) c.5376C= (p.Val1792=) c.2886C= (p.Val962=) n.6801C= | |
10 | g.71793291C>T | CA5546061 | CDH23 | c.6363C>T (p.Val2121=) c.6378C>T (p.Val2126=) c.6558C>T (p.Val2186=) c.6492C>T (p.Val2164=) c.6555C>T (p.Val2185=) c.6552C>T (p.Val2184=) c.6498C>T (p.Val2166=) c.6423C>T (p.Val2141=) c.6018C>T (p.Val2006=) c.5376C>T (p.Val1792=) c.2886C>T (p.Val962=) n.6801C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793292A>C | CA377154571 | CDH23 | c.6364A>C (p.Thr2122Pro) c.6379A>C (p.Thr2127Pro) c.6559A>C (p.Thr2187Pro) c.6493A>C (p.Thr2165Pro) c.6556A>C (p.Thr2186Pro) c.6553A>C (p.Thr2185Pro) c.6499A>C (p.Thr2167Pro) c.6424A>C (p.Thr2142Pro) c.6019A>C (p.Thr2007Pro) c.5377A>C (p.Thr1793Pro) c.2887A>C (p.Thr963Pro) n.6802A>C | |
10 | g.71793292A>G | CA377154573 | CDH23 | c.6364A>G (p.Thr2122Ala) c.6379A>G (p.Thr2127Ala) c.6559A>G (p.Thr2187Ala) c.6493A>G (p.Thr2165Ala) c.6556A>G (p.Thr2186Ala) c.6553A>G (p.Thr2185Ala) c.6499A>G (p.Thr2167Ala) c.6424A>G (p.Thr2142Ala) c.6019A>G (p.Thr2007Ala) c.5377A>G (p.Thr1793Ala) c.2887A>G (p.Thr963Ala) n.6802A>G | |
10 | g.71793292A>T | CA377154576 | CDH23 | c.6364A>T (p.Thr2122Ser) c.6379A>T (p.Thr2127Ser) c.6559A>T (p.Thr2187Ser) c.6493A>T (p.Thr2165Ser) c.6556A>T (p.Thr2186Ser) c.6553A>T (p.Thr2185Ser) c.6499A>T (p.Thr2167Ser) c.6424A>T (p.Thr2142Ser) c.6019A>T (p.Thr2007Ser) c.5377A>T (p.Thr1793Ser) c.2887A>T (p.Thr963Ser) n.6802A>T | |
10 | g.71793293C>A | CA377154579 | CDH23 | c.6365C>A (p.Thr2122Asn) c.6380C>A (p.Thr2127Asn) c.6560C>A (p.Thr2187Asn) c.6494C>A (p.Thr2165Asn) c.6557C>A (p.Thr2186Asn) c.6554C>A (p.Thr2185Asn) c.6500C>A (p.Thr2167Asn) c.6425C>A (p.Thr2142Asn) c.6020C>A (p.Thr2007Asn) c.5378C>A (p.Thr1793Asn) c.2888C>A (p.Thr963Asn) n.6803C>A | |
10 | g.71793293C= | CA1918874225 | CDH23 | c.6365C= (p.Thr2122=) c.6380C= (p.Thr2127=) c.6560C= (p.Thr2187=) c.6494C= (p.Thr2165=) c.6557C= (p.Thr2186=) c.6554C= (p.Thr2185=) c.6500C= (p.Thr2167=) c.6425C= (p.Thr2142=) c.6020C= (p.Thr2007=) c.5378C= (p.Thr1793=) c.2888C= (p.Thr963=) n.6803C= | |
10 | g.71793293C>G | CA377154581 | CDH23 | c.6365C>G (p.Thr2122Ser) c.6380C>G (p.Thr2127Ser) c.6560C>G (p.Thr2187Ser) c.6494C>G (p.Thr2165Ser) c.6557C>G (p.Thr2186Ser) c.6554C>G (p.Thr2185Ser) c.6500C>G (p.Thr2167Ser) c.6425C>G (p.Thr2142Ser) c.6020C>G (p.Thr2007Ser) c.5378C>G (p.Thr1793Ser) c.2888C>G (p.Thr963Ser) n.6803C>G | dbSNP gnomAD v4 |
10 | g.71793293C>T | CA377154584 | CDH23 | c.6365C>T (p.Thr2122Ile) c.6380C>T (p.Thr2127Ile) c.6560C>T (p.Thr2187Ile) c.6494C>T (p.Thr2165Ile) c.6557C>T (p.Thr2186Ile) c.6554C>T (p.Thr2185Ile) c.6500C>T (p.Thr2167Ile) c.6425C>T (p.Thr2142Ile) c.6020C>T (p.Thr2007Ile) c.5378C>T (p.Thr1793Ile) c.2888C>T (p.Thr963Ile) n.6803C>T | dbSNP |
10 | g.71793294C= | CA1918874226 | CDH23 | c.6366C= (p.Thr2122=) c.6381C= (p.Thr2127=) c.6561C= (p.Thr2187=) c.6495C= (p.Thr2165=) c.6558C= (p.Thr2186=) c.6555C= (p.Thr2185=) c.6501C= (p.Thr2167=) c.6426C= (p.Thr2142=) c.6021C= (p.Thr2007=) c.5379C= (p.Thr1793=) c.2889C= (p.Thr963=) n.6804C= | |
10 | g.71793294C>G | CA2580081861 | CDH23 | c.6366C>G (p.Thr2122=) c.6381C>G (p.Thr2127=) c.6561C>G (p.Thr2187=) c.6495C>G (p.Thr2165=) c.6558C>G (p.Thr2186=) c.6555C>G (p.Thr2185=) c.6501C>G (p.Thr2167=) c.6426C>G (p.Thr2142=) c.6021C>G (p.Thr2007=) c.5379C>G (p.Thr1793=) c.2889C>G (p.Thr963=) n.6804C>G | ClinVar |
10 | g.71793294C>T | CA5546062 | CDH23 | c.6366C>T (p.Thr2122=) c.6381C>T (p.Thr2127=) c.6561C>T (p.Thr2187=) c.6495C>T (p.Thr2165=) c.6558C>T (p.Thr2186=) c.6555C>T (p.Thr2185=) c.6501C>T (p.Thr2167=) c.6426C>T (p.Thr2142=) c.6021C>T (p.Thr2007=) c.5379C>T (p.Thr1793=) c.2889C>T (p.Thr963=) n.6804C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793295G>A | CA184511 | CDH23 | c.6367G>A (p.Gly2123Arg) c.6382G>A (p.Gly2128Arg) c.6562G>A (p.Gly2188Arg) c.6496G>A (p.Gly2166Arg) c.6559G>A (p.Gly2187Arg) c.6556G>A (p.Gly2186Arg) c.6502G>A (p.Gly2168Arg) c.6427G>A (p.Gly2143Arg) c.6022G>A (p.Gly2008Arg) c.5380G>A (p.Gly1794Arg) c.2890G>A (p.Gly964Arg) n.6805G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71793295G>C | CA377154590 | CDH23 | c.6367G>C (p.Gly2123Arg) c.6382G>C (p.Gly2128Arg) c.6562G>C (p.Gly2188Arg) c.6496G>C (p.Gly2166Arg) c.6559G>C (p.Gly2187Arg) c.6556G>C (p.Gly2186Arg) c.6502G>C (p.Gly2168Arg) c.6427G>C (p.Gly2143Arg) c.6022G>C (p.Gly2008Arg) c.5380G>C (p.Gly1794Arg) c.2890G>C (p.Gly964Arg) n.6805G>C | |
10 | g.71793295G= | CA1918874228 | CDH23 | c.6367G= (p.Gly2123=) c.6382G= (p.Gly2128=) c.6562G= (p.Gly2188=) c.6496G= (p.Gly2166=) c.6559G= (p.Gly2187=) c.6556G= (p.Gly2186=) c.6502G= (p.Gly2168=) c.6427G= (p.Gly2143=) c.6022G= (p.Gly2008=) c.5380G= (p.Gly1794=) c.2890G= (p.Gly964=) n.6805G= | |
10 | g.71793295G>T | CA377154592 | CDH23 | c.6367G>T (p.Gly2123Trp) c.6382G>T (p.Gly2128Trp) c.6562G>T (p.Gly2188Trp) c.6496G>T (p.Gly2166Trp) c.6559G>T (p.Gly2187Trp) c.6556G>T (p.Gly2186Trp) c.6502G>T (p.Gly2168Trp) c.6427G>T (p.Gly2143Trp) c.6022G>T (p.Gly2008Trp) c.5380G>T (p.Gly1794Trp) c.2890G>T (p.Gly964Trp) n.6805G>T | dbSNP |
10 | g.71793296G>A | CA377154595 | CDH23 | c.6368G>A (p.Gly2123Glu) c.6383G>A (p.Gly2128Glu) c.6563G>A (p.Gly2188Glu) c.6497G>A (p.Gly2166Glu) c.6560G>A (p.Gly2187Glu) c.6557G>A (p.Gly2186Glu) c.6503G>A (p.Gly2168Glu) c.6428G>A (p.Gly2143Glu) c.6023G>A (p.Gly2008Glu) c.5381G>A (p.Gly1794Glu) c.2891G>A (p.Gly964Glu) n.6806G>A | ClinVar dbSNP |
10 | g.71793296G>C | CA377154597 | CDH23 | c.6368G>C (p.Gly2123Ala) c.6383G>C (p.Gly2128Ala) c.6563G>C (p.Gly2188Ala) c.6497G>C (p.Gly2166Ala) c.6560G>C (p.Gly2187Ala) c.6557G>C (p.Gly2186Ala) c.6503G>C (p.Gly2168Ala) c.6428G>C (p.Gly2143Ala) c.6023G>C (p.Gly2008Ala) c.5381G>C (p.Gly1794Ala) c.2891G>C (p.Gly964Ala) n.6806G>C | dbSNP |
10 | g.71793296G= | CA1918874230 | CDH23 | c.6368G= (p.Gly2123=) c.6383G= (p.Gly2128=) c.6563G= (p.Gly2188=) c.6497G= (p.Gly2166=) c.6560G= (p.Gly2187=) c.6557G= (p.Gly2186=) c.6503G= (p.Gly2168=) c.6428G= (p.Gly2143=) c.6023G= (p.Gly2008=) c.5381G= (p.Gly1794=) c.2891G= (p.Gly964=) n.6806G= | |
10 | g.71793296G>T | CA377154599 | CDH23 | c.6368G>T (p.Gly2123Val) c.6383G>T (p.Gly2128Val) c.6563G>T (p.Gly2188Val) c.6497G>T (p.Gly2166Val) c.6560G>T (p.Gly2187Val) c.6557G>T (p.Gly2186Val) c.6503G>T (p.Gly2168Val) c.6428G>T (p.Gly2143Val) c.6023G>T (p.Gly2008Val) c.5381G>T (p.Gly1794Val) c.2891G>T (p.Gly964Val) n.6806G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793297G>A | CA1918874232 | CDH23 | c.6369G>A (p.Gly2123=) c.6384G>A (p.Gly2128=) c.6564G>A (p.Gly2188=) c.6498G>A (p.Gly2166=) c.6561G>A (p.Gly2187=) c.6558G>A (p.Gly2186=) c.6504G>A (p.Gly2168=) c.6429G>A (p.Gly2143=) c.6024G>A (p.Gly2008=) c.5382G>A (p.Gly1794=) c.2892G>A (p.Gly964=) n.6807G>A | ClinVar dbSNP |
10 | g.71793297G>C | CA5546063 | CDH23 | c.6369G>C (p.Gly2123=) c.6384G>C (p.Gly2128=) c.6564G>C (p.Gly2188=) c.6498G>C (p.Gly2166=) c.6561G>C (p.Gly2187=) c.6558G>C (p.Gly2186=) c.6504G>C (p.Gly2168=) c.6429G>C (p.Gly2143=) c.6024G>C (p.Gly2008=) c.5382G>C (p.Gly1794=) c.2892G>C (p.Gly964=) n.6807G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793297G= | CA1918874231 | CDH23 | c.6369G= (p.Gly2123=) c.6384G= (p.Gly2128=) c.6564G= (p.Gly2188=) c.6498G= (p.Gly2166=) c.6561G= (p.Gly2187=) c.6558G= (p.Gly2186=) c.6504G= (p.Gly2168=) c.6429G= (p.Gly2143=) c.6024G= (p.Gly2008=) c.5382G= (p.Gly1794=) c.2892G= (p.Gly964=) n.6807G= | |
10 | g.71793297G>T | CA2499220349 | CDH23 | c.6369G>T (p.Gly2123=) c.6384G>T (p.Gly2128=) c.6564G>T (p.Gly2188=) c.6498G>T (p.Gly2166=) c.6561G>T (p.Gly2187=) c.6558G>T (p.Gly2186=) c.6504G>T (p.Gly2168=) c.6429G>T (p.Gly2143=) c.6024G>T (p.Gly2008=) c.5382G>T (p.Gly1794=) c.2892G>T (p.Gly964=) n.6807G>T | ClinVar dbSNP gnomAD v4 |
10 | g.71793298G>A | CA377154613 | CDH23 | c.6370G>A (p.Val2124Ile) c.6385G>A (p.Val2129Ile) c.6565G>A (p.Val2189Ile) c.6499G>A (p.Val2167Ile) c.6562G>A (p.Val2188Ile) c.6559G>A (p.Val2187Ile) c.6505G>A (p.Val2169Ile) c.6430G>A (p.Val2144Ile) c.6025G>A (p.Val2009Ile) c.5383G>A (p.Val1795Ile) c.2893G>A (p.Val965Ile) n.6808G>A | |
10 | g.71793298G>C | CA377154615 | CDH23 | c.6370G>C (p.Val2124Leu) c.6385G>C (p.Val2129Leu) c.6565G>C (p.Val2189Leu) c.6499G>C (p.Val2167Leu) c.6562G>C (p.Val2188Leu) c.6559G>C (p.Val2187Leu) c.6505G>C (p.Val2169Leu) c.6430G>C (p.Val2144Leu) c.6025G>C (p.Val2009Leu) c.5383G>C (p.Val1795Leu) c.2893G>C (p.Val965Leu) n.6808G>C | |
10 | g.71793298G>T | CA377154610 | CDH23 | c.6370G>T (p.Val2124Phe) c.6385G>T (p.Val2129Phe) c.6565G>T (p.Val2189Phe) c.6499G>T (p.Val2167Phe) c.6562G>T (p.Val2188Phe) c.6559G>T (p.Val2187Phe) c.6505G>T (p.Val2169Phe) c.6430G>T (p.Val2144Phe) c.6025G>T (p.Val2009Phe) c.5383G>T (p.Val1795Phe) c.2893G>T (p.Val965Phe) n.6808G>T | gnomAD v4 |
10 | g.71793299T>A | CA377154617 | CDH23 | c.6371T>A (p.Val2124Asp) c.6386T>A (p.Val2129Asp) c.6566T>A (p.Val2189Asp) c.6500T>A (p.Val2167Asp) c.6563T>A (p.Val2188Asp) c.6560T>A (p.Val2187Asp) c.6506T>A (p.Val2169Asp) c.6431T>A (p.Val2144Asp) c.6026T>A (p.Val2009Asp) c.5384T>A (p.Val1795Asp) c.2894T>A (p.Val965Asp) n.6809T>A | |
10 | g.71793299T>C | CA377154619 | CDH23 | c.6371T>C (p.Val2124Ala) c.6386T>C (p.Val2129Ala) c.6566T>C (p.Val2189Ala) c.6500T>C (p.Val2167Ala) c.6563T>C (p.Val2188Ala) c.6560T>C (p.Val2187Ala) c.6506T>C (p.Val2169Ala) c.6431T>C (p.Val2144Ala) c.6026T>C (p.Val2009Ala) c.5384T>C (p.Val1795Ala) c.2894T>C (p.Val965Ala) n.6809T>C | |
10 | g.71793299T>G | CA377154622 | CDH23 | c.6371T>G (p.Val2124Gly) c.6386T>G (p.Val2129Gly) c.6566T>G (p.Val2189Gly) c.6500T>G (p.Val2167Gly) c.6563T>G (p.Val2188Gly) c.6560T>G (p.Val2187Gly) c.6506T>G (p.Val2169Gly) c.6431T>G (p.Val2144Gly) c.6026T>G (p.Val2009Gly) c.5384T>G (p.Val1795Gly) c.2894T>G (p.Val965Gly) n.6809T>G | |
10 | g.71793300C= | CA1918874233 | CDH23 | c.6372C= (p.Val2124=) c.6387C= (p.Val2129=) c.6567C= (p.Val2189=) c.6501C= (p.Val2167=) c.6564C= (p.Val2188=) c.6561C= (p.Val2187=) c.6507C= (p.Val2169=) c.6432C= (p.Val2144=) c.6027C= (p.Val2009=) c.5385C= (p.Val1795=) c.2895C= (p.Val965=) n.6810C= | |
10 | g.71793300C>G | CA2722034577 | CDH23 | c.6372C>G (p.Val2124=) c.6387C>G (p.Val2129=) c.6567C>G (p.Val2189=) c.6501C>G (p.Val2167=) c.6564C>G (p.Val2188=) c.6561C>G (p.Val2187=) c.6507C>G (p.Val2169=) c.6432C>G (p.Val2144=) c.6027C>G (p.Val2009=) c.5385C>G (p.Val1795=) c.2895C>G (p.Val965=) n.6810C>G | dbSNP |
10 | g.71793300C>T | CA668105192 | CDH23 | c.6372C>T (p.Val2124=) c.6387C>T (p.Val2129=) c.6567C>T (p.Val2189=) c.6501C>T (p.Val2167=) c.6564C>T (p.Val2188=) c.6561C>T (p.Val2187=) c.6507C>T (p.Val2169=) c.6432C>T (p.Val2144=) c.6027C>T (p.Val2009=) c.5385C>T (p.Val1795=) c.2895C>T (p.Val965=) n.6810C>T | dbSNP |
10 | g.71793301A>C | CA377154623 | CDH23 | c.6373A>C (p.Ile2125Leu) c.6388A>C (p.Ile2130Leu) c.6568A>C (p.Ile2190Leu) c.6502A>C (p.Ile2168Leu) c.6565A>C (p.Ile2189Leu) c.6562A>C (p.Ile2188Leu) c.6508A>C (p.Ile2170Leu) c.6433A>C (p.Ile2145Leu) c.6028A>C (p.Ile2010Leu) c.5386A>C (p.Ile1796Leu) c.2896A>C (p.Ile966Leu) n.6811A>C | |
10 | g.71793301A>G | CA377154625 | CDH23 | c.6373A>G (p.Ile2125Val) c.6388A>G (p.Ile2130Val) c.6568A>G (p.Ile2190Val) c.6502A>G (p.Ile2168Val) c.6565A>G (p.Ile2189Val) c.6562A>G (p.Ile2188Val) c.6508A>G (p.Ile2170Val) c.6433A>G (p.Ile2145Val) c.6028A>G (p.Ile2010Val) c.5386A>G (p.Ile1796Val) c.2896A>G (p.Ile966Val) n.6811A>G | gnomAD v4 |
10 | g.71793301A>T | CA377154628 | CDH23 | c.6373A>T (p.Ile2125Phe) c.6388A>T (p.Ile2130Phe) c.6568A>T (p.Ile2190Phe) c.6502A>T (p.Ile2168Phe) c.6565A>T (p.Ile2189Phe) c.6562A>T (p.Ile2188Phe) c.6508A>T (p.Ile2170Phe) c.6433A>T (p.Ile2145Phe) c.6028A>T (p.Ile2010Phe) c.5386A>T (p.Ile1796Phe) c.2896A>T (p.Ile966Phe) n.6811A>T | gnomAD v4 |
10 | g.71793302T>A | CA377154630 | CDH23 | c.6374T>A (p.Ile2125Asn) c.6389T>A (p.Ile2130Asn) c.6569T>A (p.Ile2190Asn) c.6503T>A (p.Ile2168Asn) c.6566T>A (p.Ile2189Asn) c.6563T>A (p.Ile2188Asn) c.6509T>A (p.Ile2170Asn) c.6434T>A (p.Ile2145Asn) c.6029T>A (p.Ile2010Asn) c.5387T>A (p.Ile1796Asn) c.2897T>A (p.Ile966Asn) n.6812T>A | |
10 | g.71793302T>C | CA377154631 | CDH23 | c.6374T>C (p.Ile2125Thr) c.6389T>C (p.Ile2130Thr) c.6569T>C (p.Ile2190Thr) c.6503T>C (p.Ile2168Thr) c.6566T>C (p.Ile2189Thr) c.6563T>C (p.Ile2188Thr) c.6509T>C (p.Ile2170Thr) c.6434T>C (p.Ile2145Thr) c.6029T>C (p.Ile2010Thr) c.5387T>C (p.Ile1796Thr) c.2897T>C (p.Ile966Thr) n.6812T>C | |
10 | g.71793302T>G | CA377154633 | CDH23 | c.6374T>G (p.Ile2125Ser) c.6389T>G (p.Ile2130Ser) c.6569T>G (p.Ile2190Ser) c.6503T>G (p.Ile2168Ser) c.6566T>G (p.Ile2189Ser) c.6563T>G (p.Ile2188Ser) c.6509T>G (p.Ile2170Ser) c.6434T>G (p.Ile2145Ser) c.6029T>G (p.Ile2010Ser) c.5387T>G (p.Ile1796Ser) c.2897T>G (p.Ile966Ser) n.6812T>G | |
10 | g.71793303C>A | CA1139661502 | CDH23 | c.6375C>A (p.Ile2125=) c.6390C>A (p.Ile2130=) c.6570C>A (p.Ile2190=) c.6504C>A (p.Ile2168=) c.6567C>A (p.Ile2189=) c.6564C>A (p.Ile2188=) c.6510C>A (p.Ile2170=) c.6435C>A (p.Ile2145=) c.6030C>A (p.Ile2010=) c.5388C>A (p.Ile1796=) c.2898C>A (p.Ile966=) n.6813C>A | ClinVar dbSNP |
10 | g.71793303C= | CA1918874235 | CDH23 | c.6375C= (p.Ile2125=) c.6390C= (p.Ile2130=) c.6570C= (p.Ile2190=) c.6504C= (p.Ile2168=) c.6567C= (p.Ile2189=) c.6564C= (p.Ile2188=) c.6510C= (p.Ile2170=) c.6435C= (p.Ile2145=) c.6030C= (p.Ile2010=) c.5388C= (p.Ile1796=) c.2898C= (p.Ile966=) n.6813C= | |
10 | g.71793303C>G | CA209466039 | CDH23 | c.6375C>G (p.Ile2125Met) c.6390C>G (p.Ile2130Met) c.6570C>G (p.Ile2190Met) c.6504C>G (p.Ile2168Met) c.6567C>G (p.Ile2189Met) c.6564C>G (p.Ile2188Met) c.6510C>G (p.Ile2170Met) c.6435C>G (p.Ile2145Met) c.6030C>G (p.Ile2010Met) c.5388C>G (p.Ile1796Met) c.2898C>G (p.Ile966Met) n.6813C>G | dbSNP |
10 | g.71793303C>T | CA1918874236 | CDH23 | c.6375C>T (p.Ile2125=) c.6390C>T (p.Ile2130=) c.6570C>T (p.Ile2190=) c.6504C>T (p.Ile2168=) c.6567C>T (p.Ile2189=) c.6564C>T (p.Ile2188=) c.6510C>T (p.Ile2170=) c.6435C>T (p.Ile2145=) c.6030C>T (p.Ile2010=) c.5388C>T (p.Ile1796=) c.2898C>T (p.Ile966=) n.6813C>T | dbSNP |
10 | g.71793304del | CA2573145263 | CDH23 | c.6376del (p.Arg2126ValfsTer17) c.6391del (p.Arg2131ValfsTer17) c.6571del (p.Arg2191ValfsTer17) c.6505del (p.Arg2169ValfsTer17) c.6568del (p.Arg2190ValfsTer17) c.6565del (p.Arg2189ValfsTer17) c.6511del (p.Arg2171ValfsTer17) c.6571del (p.Arg2191ValfsTer8) c.6436del (p.Arg2146ValfsTer17) c.6031del (p.Arg2011ValfsTer17) c.5389del (p.Arg1797ValfsTer17) c.2899del (p.Arg967ValfsTer17) n.6814del | ClinVar dbSNP |
10 | g.71793304C>A | CA377154638 | CDH23 | c.6376C>A (p.Arg2126Ser) c.6391C>A (p.Arg2131Ser) c.6571C>A (p.Arg2191Ser) c.6505C>A (p.Arg2169Ser) c.6568C>A (p.Arg2190Ser) c.6565C>A (p.Arg2189Ser) c.6511C>A (p.Arg2171Ser) c.6436C>A (p.Arg2146Ser) c.6031C>A (p.Arg2011Ser) c.5389C>A (p.Arg1797Ser) c.2899C>A (p.Arg967Ser) n.6814C>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793304C= | CA1918874240 | CDH23 | c.6376C= (p.Arg2126=) c.6391C= (p.Arg2131=) c.6571C= (p.Arg2191=) c.6505C= (p.Arg2169=) c.6568C= (p.Arg2190=) c.6565C= (p.Arg2189=) c.6511C= (p.Arg2171=) c.6436C= (p.Arg2146=) c.6031C= (p.Arg2011=) c.5389C= (p.Arg1797=) c.2899C= (p.Arg967=) n.6814C= | |
10 | g.71793304C>G | CA377154640 | CDH23 | c.6376C>G (p.Arg2126Gly) c.6391C>G (p.Arg2131Gly) c.6571C>G (p.Arg2191Gly) c.6505C>G (p.Arg2169Gly) c.6568C>G (p.Arg2190Gly) c.6565C>G (p.Arg2189Gly) c.6511C>G (p.Arg2171Gly) c.6436C>G (p.Arg2146Gly) c.6031C>G (p.Arg2011Gly) c.5389C>G (p.Arg1797Gly) c.2899C>G (p.Arg967Gly) n.6814C>G | gnomAD v4 |
10 | g.71793304C>T | CA5546064 | CDH23 | c.6376C>T (p.Arg2126Cys) c.6391C>T (p.Arg2131Cys) c.6571C>T (p.Arg2191Cys) c.6505C>T (p.Arg2169Cys) c.6568C>T (p.Arg2190Cys) c.6565C>T (p.Arg2189Cys) c.6511C>T (p.Arg2171Cys) c.6436C>T (p.Arg2146Cys) c.6031C>T (p.Arg2011Cys) c.5389C>T (p.Arg1797Cys) c.2899C>T (p.Arg967Cys) n.6814C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793305G>A | CA5546065 | CDH23 | c.6377G>A (p.Arg2126His) c.6392G>A (p.Arg2131His) c.6572G>A (p.Arg2191His) c.6506G>A (p.Arg2169His) c.6569G>A (p.Arg2190His) c.6566G>A (p.Arg2189His) c.6512G>A (p.Arg2171His) c.6437G>A (p.Arg2146His) c.6032G>A (p.Arg2011His) c.5390G>A (p.Arg1797His) c.2900G>A (p.Arg967His) n.6815G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793305G>C | CA377154645 | CDH23 | c.6377G>C (p.Arg2126Pro) c.6392G>C (p.Arg2131Pro) c.6572G>C (p.Arg2191Pro) c.6506G>C (p.Arg2169Pro) c.6569G>C (p.Arg2190Pro) c.6566G>C (p.Arg2189Pro) c.6512G>C (p.Arg2171Pro) c.6437G>C (p.Arg2146Pro) c.6032G>C (p.Arg2011Pro) c.5390G>C (p.Arg1797Pro) c.2900G>C (p.Arg967Pro) n.6815G>C | |
10 | g.71793305G= | CA1918874242 | CDH23 | c.6377G= (p.Arg2126=) c.6392G= (p.Arg2131=) c.6572G= (p.Arg2191=) c.6506G= (p.Arg2169=) c.6569G= (p.Arg2190=) c.6566G= (p.Arg2189=) c.6512G= (p.Arg2171=) c.6437G= (p.Arg2146=) c.6032G= (p.Arg2011=) c.5390G= (p.Arg1797=) c.2900G= (p.Arg967=) n.6815G= | |
10 | g.71793305G>T | CA377154647 | CDH23 | c.6377G>T (p.Arg2126Leu) c.6392G>T (p.Arg2131Leu) c.6572G>T (p.Arg2191Leu) c.6506G>T (p.Arg2169Leu) c.6569G>T (p.Arg2190Leu) c.6566G>T (p.Arg2189Leu) c.6512G>T (p.Arg2171Leu) c.6437G>T (p.Arg2146Leu) c.6032G>T (p.Arg2011Leu) c.5390G>T (p.Arg1797Leu) c.2900G>T (p.Arg967Leu) n.6815G>T | |
10 | g.71793305delinsCGT | CA2695199528 | CDH23 | c.6377delinsCGT (p.Arg2126ProfsTer18) c.6392delinsCGT (p.Arg2131ProfsTer18) c.6572delinsCGT (p.Arg2191ProfsTer18) c.6506delinsCGT (p.Arg2169ProfsTer18) c.6569delinsCGT (p.Arg2190ProfsTer18) c.6566delinsCGT (p.Arg2189ProfsTer18) c.6512delinsCGT (p.Arg2171ProfsTer18) c.6572delinsCGT (p.Arg2191ProfsTer9) c.6437delinsCGT (p.Arg2146ProfsTer18) c.6032delinsCGT (p.Arg2011ProfsTer18) c.5390delinsCGT (p.Arg1797ProfsTer18) c.2900delinsCGT (p.Arg967ProfsTer18) n.6815delinsCGT | ClinVar |
10 | g.71793306T>C | CA2609580439 | CDH23 | c.6378T>C (p.Arg2126=) c.6393T>C (p.Arg2131=) c.6573T>C (p.Arg2191=) c.6507T>C (p.Arg2169=) c.6570T>C (p.Arg2190=) c.6567T>C (p.Arg2189=) c.6513T>C (p.Arg2171=) c.6438T>C (p.Arg2146=) c.6033T>C (p.Arg2011=) c.5391T>C (p.Arg1797=) c.2901T>C (p.Arg967=) n.6816T>C | gnomAD v4 |
10 | g.71793307G>A | CA377154651 | CDH23 | c.6379G>A (p.Val2127Ile) c.6394G>A (p.Val2132Ile) c.6574G>A (p.Val2192Ile) c.6508G>A (p.Val2170Ile) c.6571G>A (p.Val2191Ile) c.6568G>A (p.Val2190Ile) c.6514G>A (p.Val2172Ile) c.6439G>A (p.Val2147Ile) c.6034G>A (p.Val2012Ile) c.5392G>A (p.Val1798Ile) c.2902G>A (p.Val968Ile) n.6817G>A | gnomAD v4 |
10 | g.71793307G>C | CA377154653 | CDH23 | c.6379G>C (p.Val2127Leu) c.6394G>C (p.Val2132Leu) c.6574G>C (p.Val2192Leu) c.6508G>C (p.Val2170Leu) c.6571G>C (p.Val2191Leu) c.6568G>C (p.Val2190Leu) c.6514G>C (p.Val2172Leu) c.6439G>C (p.Val2147Leu) c.6034G>C (p.Val2012Leu) c.5392G>C (p.Val1798Leu) c.2902G>C (p.Val968Leu) n.6817G>C | |
10 | g.71793307G= | CA1918874245 | CDH23 | c.6379G= (p.Val2127=) c.6394G= (p.Val2132=) c.6574G= (p.Val2192=) c.6508G= (p.Val2170=) c.6571G= (p.Val2191=) c.6568G= (p.Val2190=) c.6514G= (p.Val2172=) c.6439G= (p.Val2147=) c.6034G= (p.Val2012=) c.5392G= (p.Val1798=) c.2902G= (p.Val968=) n.6817G= | |
10 | g.71793307G>T | CA5546066 | CDH23 | c.6379G>T (p.Val2127Phe) c.6394G>T (p.Val2132Phe) c.6574G>T (p.Val2192Phe) c.6508G>T (p.Val2170Phe) c.6571G>T (p.Val2191Phe) c.6568G>T (p.Val2190Phe) c.6514G>T (p.Val2172Phe) c.6439G>T (p.Val2147Phe) c.6034G>T (p.Val2012Phe) c.5392G>T (p.Val1798Phe) c.2902G>T (p.Val968Phe) n.6817G>T | ClinVar dbSNP ExAC gnomAD v4 |
10 | g.71793308T>A | CA377154658 | CDH23 | c.6380T>A (p.Val2127Asp) c.6395T>A (p.Val2132Asp) c.6575T>A (p.Val2192Asp) c.6509T>A (p.Val2170Asp) c.6572T>A (p.Val2191Asp) c.6569T>A (p.Val2190Asp) c.6515T>A (p.Val2172Asp) c.6440T>A (p.Val2147Asp) c.6035T>A (p.Val2012Asp) c.5393T>A (p.Val1798Asp) c.2903T>A (p.Val968Asp) n.6818T>A | |
10 | g.71793308T>C | CA377154660 | CDH23 | c.6380T>C (p.Val2127Ala) c.6395T>C (p.Val2132Ala) c.6575T>C (p.Val2192Ala) c.6509T>C (p.Val2170Ala) c.6572T>C (p.Val2191Ala) c.6569T>C (p.Val2190Ala) c.6515T>C (p.Val2172Ala) c.6440T>C (p.Val2147Ala) c.6035T>C (p.Val2012Ala) c.5393T>C (p.Val1798Ala) c.2903T>C (p.Val968Ala) n.6818T>C | gnomAD v4 |
10 | g.71793308T>G | CA377154663 | CDH23 | c.6380T>G (p.Val2127Gly) c.6395T>G (p.Val2132Gly) c.6575T>G (p.Val2192Gly) c.6509T>G (p.Val2170Gly) c.6572T>G (p.Val2191Gly) c.6569T>G (p.Val2190Gly) c.6515T>G (p.Val2172Gly) c.6440T>G (p.Val2147Gly) c.6035T>G (p.Val2012Gly) c.5393T>G (p.Val1798Gly) c.2903T>G (p.Val968Gly) n.6818T>G | |
10 | g.71793309T>C | CA594705919 | CDH23 | c.6381T>C (p.Val2127=) c.6396T>C (p.Val2132=) c.6576T>C (p.Val2192=) c.6510T>C (p.Val2170=) c.6573T>C (p.Val2191=) c.6570T>C (p.Val2190=) c.6516T>C (p.Val2172=) c.6441T>C (p.Val2147=) c.6036T>C (p.Val2012=) c.5394T>C (p.Val1798=) c.2904T>C (p.Val968=) n.6819T>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793309T= | CA1918874247 | CDH23 | c.6381T= (p.Val2127=) c.6396T= (p.Val2132=) c.6576T= (p.Val2192=) c.6510T= (p.Val2170=) c.6573T= (p.Val2191=) c.6570T= (p.Val2190=) c.6516T= (p.Val2172=) c.6441T= (p.Val2147=) c.6036T= (p.Val2012=) c.5394T= (p.Val1798=) c.2904T= (p.Val968=) n.6819T= | |
10 | g.71793310G>A | CA377154667 | CDH23 | c.6382G>A (p.Gly2128Ser) c.6397G>A (p.Gly2133Ser) c.6577G>A (p.Gly2193Ser) c.6511G>A (p.Gly2171Ser) c.6574G>A (p.Gly2192Ser) c.6571G>A (p.Gly2191Ser) c.6517G>A (p.Gly2173Ser) c.6577G>A (p.Ala2193Thr) c.6442G>A (p.Gly2148Ser) c.6037G>A (p.Gly2013Ser) c.5395G>A (p.Gly1799Ser) c.2905G>A (p.Gly969Ser) n.6820G>A | gnomAD v4 |
10 | g.71793310G>C | CA377154669 | CDH23 | c.6382G>C (p.Gly2128Arg) c.6397G>C (p.Gly2133Arg) c.6577G>C (p.Gly2193Arg) c.6511G>C (p.Gly2171Arg) c.6574G>C (p.Gly2192Arg) c.6571G>C (p.Gly2191Arg) c.6517G>C (p.Gly2173Arg) c.6577G>C (p.Ala2193Pro) c.6442G>C (p.Gly2148Arg) c.6037G>C (p.Gly2013Arg) c.5395G>C (p.Gly1799Arg) c.2905G>C (p.Gly969Arg) n.6820G>C | |
10 | g.71793310G>T | CA377154673 | CDH23 | c.6382G>T (p.Gly2128Cys) c.6397G>T (p.Gly2133Cys) c.6577G>T (p.Gly2193Cys) c.6511G>T (p.Gly2171Cys) c.6574G>T (p.Gly2192Cys) c.6571G>T (p.Gly2191Cys) c.6517G>T (p.Gly2173Cys) c.6577G>T (p.Ala2193Ser) c.6442G>T (p.Gly2148Cys) c.6037G>T (p.Gly2013Cys) c.5395G>T (p.Gly1799Cys) c.2905G>T (p.Gly969Cys) n.6820G>T | |
10 | g.71793311G>A | CA377154675 | CDH23 | c.6383G>A (p.Gly2128Asp) c.6398G>A (p.Gly2133Asp) c.6578G>A (p.Gly2193Asp) c.6512G>A (p.Gly2171Asp) c.6575G>A (p.Gly2192Asp) c.6572G>A (p.Gly2191Asp) c.6518G>A (p.Gly2173Asp) c.6577+1G>A (n.6577+1G>A) c.6443G>A (p.Gly2148Asp) c.6038G>A (p.Gly2013Asp) c.5396G>A (p.Gly1799Asp) c.2906G>A (p.Gly969Asp) n.6821G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793311G>C | CA377154677 | CDH23 | c.6383G>C (p.Gly2128Ala) c.6398G>C (p.Gly2133Ala) c.6578G>C (p.Gly2193Ala) c.6512G>C (p.Gly2171Ala) c.6575G>C (p.Gly2192Ala) c.6572G>C (p.Gly2191Ala) c.6518G>C (p.Gly2173Ala) c.6577+1G>C (n.6577+1G>C) c.6443G>C (p.Gly2148Ala) c.6038G>C (p.Gly2013Ala) c.5396G>C (p.Gly1799Ala) c.2906G>C (p.Gly969Ala) n.6821G>C | |
10 | g.71793311G= | CA1918874248 | CDH23 | c.6383G= (p.Gly2128=) c.6398G= (p.Gly2133=) c.6578G= (p.Gly2193=) c.6512G= (p.Gly2171=) c.6575G= (p.Gly2192=) c.6572G= (p.Gly2191=) c.6518G= (p.Gly2173=) c.6577+1G= (n.6577+1G=) c.6443G= (p.Gly2148=) c.6038G= (p.Gly2013=) c.5396G= (p.Gly1799=) c.2906G= (p.Gly969=) n.6821G= | |
10 | g.71793311G>T | CA377154679 | CDH23 | c.6383G>T (p.Gly2128Val) c.6398G>T (p.Gly2133Val) c.6578G>T (p.Gly2193Val) c.6512G>T (p.Gly2171Val) c.6575G>T (p.Gly2192Val) c.6572G>T (p.Gly2191Val) c.6518G>T (p.Gly2173Val) c.6577+1G>T (n.6577+1G>T) c.6443G>T (p.Gly2148Val) c.6038G>T (p.Gly2013Val) c.5396G>T (p.Gly1799Val) c.2906G>T (p.Gly969Val) n.6821G>T | |
10 | g.71793313A>C | CA377154689 | CDH23 | c.6385A>C (p.Asn2129His) c.6400A>C (p.Asn2134His) c.6580A>C (p.Asn2194His) c.6514A>C (p.Asn2172His) c.6577A>C (p.Asn2193His) c.6574A>C (p.Asn2192His) c.6520A>C (p.Asn2174His) c.6577+3A>C (n.6577+3A>C) c.6445A>C (p.Asn2149His) c.6040A>C (p.Asn2014His) c.5398A>C (p.Asn1800His) c.2908A>C (p.Asn970His) n.6823A>C | |
10 | g.71793313A>G | CA377154684 | CDH23 | c.6385A>G (p.Asn2129Asp) c.6400A>G (p.Asn2134Asp) c.6580A>G (p.Asn2194Asp) c.6514A>G (p.Asn2172Asp) c.6577A>G (p.Asn2193Asp) c.6574A>G (p.Asn2192Asp) c.6520A>G (p.Asn2174Asp) c.6577+3A>G (n.6577+3A>G) c.6445A>G (p.Asn2149Asp) c.6040A>G (p.Asn2014Asp) c.5398A>G (p.Asn1800Asp) c.2908A>G (p.Asn970Asp) n.6823A>G | |
10 | g.71793313A>T | CA377154686 | CDH23 | c.6385A>T (p.Asn2129Tyr) c.6400A>T (p.Asn2134Tyr) c.6580A>T (p.Asn2194Tyr) c.6514A>T (p.Asn2172Tyr) c.6577A>T (p.Asn2193Tyr) c.6574A>T (p.Asn2192Tyr) c.6520A>T (p.Asn2174Tyr) c.6577+3A>T (n.6577+3A>T) c.6445A>T (p.Asn2149Tyr) c.6040A>T (p.Asn2014Tyr) c.5398A>T (p.Asn1800Tyr) c.2908A>T (p.Asn970Tyr) n.6823A>T | COSMIC |
10 | g.71793314A>C | CA377154690 | CDH23 | c.6386A>C (p.Asn2129Thr) c.6401A>C (p.Asn2134Thr) c.6581A>C (p.Asn2194Thr) c.6515A>C (p.Asn2172Thr) c.6578A>C (p.Asn2193Thr) c.6575A>C (p.Asn2192Thr) c.6521A>C (p.Asn2174Thr) c.6577+4A>C (n.6577+4A>C) c.6446A>C (p.Asn2149Thr) c.6041A>C (p.Asn2014Thr) c.5399A>C (p.Asn1800Thr) c.2909A>C (p.Asn970Thr) n.6824A>C | |
10 | g.71793314A>G | CA377154696 | CDH23 | c.6386A>G (p.Asn2129Ser) c.6401A>G (p.Asn2134Ser) c.6581A>G (p.Asn2194Ser) c.6515A>G (p.Asn2172Ser) c.6578A>G (p.Asn2193Ser) c.6575A>G (p.Asn2192Ser) c.6521A>G (p.Asn2174Ser) c.6577+4A>G (n.6577+4A>G) c.6446A>G (p.Asn2149Ser) c.6041A>G (p.Asn2014Ser) c.5399A>G (p.Asn1800Ser) c.2909A>G (p.Asn970Ser) n.6824A>G | |
10 | g.71793314A>T | CA377154693 | CDH23 | c.6386A>T (p.Asn2129Ile) c.6401A>T (p.Asn2134Ile) c.6581A>T (p.Asn2194Ile) c.6515A>T (p.Asn2172Ile) c.6578A>T (p.Asn2193Ile) c.6575A>T (p.Asn2192Ile) c.6521A>T (p.Asn2174Ile) c.6577+4A>T (n.6577+4A>T) c.6446A>T (p.Asn2149Ile) c.6041A>T (p.Asn2014Ile) c.5399A>T (p.Asn1800Ile) c.2909A>T (p.Asn970Ile) n.6824A>T | |
10 | g.71793315T>A | CA377154699 | CDH23 | c.6387T>A (p.Asn2129Lys) c.6402T>A (p.Asn2134Lys) c.6582T>A (p.Asn2194Lys) c.6516T>A (p.Asn2172Lys) c.6579T>A (p.Asn2193Lys) c.6576T>A (p.Asn2192Lys) c.6522T>A (p.Asn2174Lys) c.6577+5T>A (n.6577+5T>A) c.6447T>A (p.Asn2149Lys) c.6042T>A (p.Asn2014Lys) c.5400T>A (p.Asn1800Lys) c.2910T>A (p.Asn970Lys) n.6825T>A | |
10 | g.71793315T>C | CA2499220350 | CDH23 | c.6387T>C (p.Asn2129=) c.6402T>C (p.Asn2134=) c.6582T>C (p.Asn2194=) c.6516T>C (p.Asn2172=) c.6579T>C (p.Asn2193=) c.6576T>C (p.Asn2192=) c.6522T>C (p.Asn2174=) c.6577+5T>C (n.6577+5T>C) c.6447T>C (p.Asn2149=) c.6042T>C (p.Asn2014=) c.5400T>C (p.Asn1800=) c.2910T>C (p.Asn970=) n.6825T>C | ClinVar dbSNP |
10 | g.71793315T>G | CA377154701 | CDH23 | c.6387T>G (p.Asn2129Lys) c.6402T>G (p.Asn2134Lys) c.6582T>G (p.Asn2194Lys) c.6516T>G (p.Asn2172Lys) c.6579T>G (p.Asn2193Lys) c.6576T>G (p.Asn2192Lys) c.6522T>G (p.Asn2174Lys) c.6577+5T>G (n.6577+5T>G) c.6447T>G (p.Asn2149Lys) c.6042T>G (p.Asn2014Lys) c.5400T>G (p.Asn1800Lys) c.2910T>G (p.Asn970Lys) n.6825T>G | |
10 | g.71793316G>A | CA377154704 | CDH23 | c.6388G>A (p.Ala2130Thr) c.6403G>A (p.Ala2135Thr) c.6583G>A (p.Ala2195Thr) c.6517G>A (p.Ala2173Thr) c.6580G>A (p.Ala2194Thr) c.6577G>A (p.Ala2193Thr) c.6523G>A (p.Ala2175Thr) c.6577+6G>A (n.6577+6G>A) c.6448G>A (p.Ala2150Thr) c.6043G>A (p.Ala2015Thr) c.5401G>A (p.Ala1801Thr) c.2911G>A (p.Ala971Thr) n.6826G>A | dbSNP |
10 | g.71793316G>C | CA377154706 | CDH23 | c.6388G>C (p.Ala2130Pro) c.6403G>C (p.Ala2135Pro) c.6583G>C (p.Ala2195Pro) c.6517G>C (p.Ala2173Pro) c.6580G>C (p.Ala2194Pro) c.6577G>C (p.Ala2193Pro) c.6523G>C (p.Ala2175Pro) c.6577+6G>C (n.6577+6G>C) c.6448G>C (p.Ala2150Pro) c.6043G>C (p.Ala2015Pro) c.5401G>C (p.Ala1801Pro) c.2911G>C (p.Ala971Pro) n.6826G>C | |
10 | g.71793316G>T | CA377154707 | CDH23 | c.6388G>T (p.Ala2130Ser) c.6403G>T (p.Ala2135Ser) c.6583G>T (p.Ala2195Ser) c.6517G>T (p.Ala2173Ser) c.6580G>T (p.Ala2194Ser) c.6577G>T (p.Ala2193Ser) c.6523G>T (p.Ala2175Ser) c.6577+6G>T (n.6577+6G>T) c.6448G>T (p.Ala2150Ser) c.6043G>T (p.Ala2015Ser) c.5401G>T (p.Ala1801Ser) c.2911G>T (p.Ala971Ser) n.6826G>T | |
10 | g.71793316_71793319delinsGCCA | CA1918874250 | CDH23 | c.6388_6391delinsGCCA (p.Ala2130=) c.6403_6406delinsGCCA (p.Ala2135=) c.6583_6586delinsGCCA (p.Ala2195=) c.6517_6520delinsGCCA (p.Ala2173=) c.6580_6583delinsGCCA (p.Ala2194=) c.6577_6580delinsGCCA (p.Ala2193=) c.6523_6526delinsGCCA (p.Ala2175=) c.6577+6_6577+9delinsGCCA (n.6577+6_6577+9delinsGCCA) c.6448_6451delinsGCCA (p.Ala2150=) c.6043_6046delinsGCCA (p.Ala2015=) c.5401_5404delinsGCCA (p.Ala1801=) c.2911_2914delinsGCCA (p.Ala971=) n.6826_6829delinsGCCA | |
10 | g.71793317C>A | CA377154711 | CDH23 | c.6389C>A (p.Ala2130Asp) c.6404C>A (p.Ala2135Asp) c.6584C>A (p.Ala2195Asp) c.6518C>A (p.Ala2173Asp) c.6581C>A (p.Ala2194Asp) c.6578C>A (p.Ala2193Asp) c.6524C>A (p.Ala2175Asp) c.6577+7C>A (n.6577+7C>A) c.6449C>A (p.Ala2150Asp) c.6044C>A (p.Ala2015Asp) c.5402C>A (p.Ala1801Asp) c.2912C>A (p.Ala971Asp) n.6827C>A | |
10 | g.71793317C>G | CA377154713 | CDH23 | c.6389C>G (p.Ala2130Gly) c.6404C>G (p.Ala2135Gly) c.6584C>G (p.Ala2195Gly) c.6518C>G (p.Ala2173Gly) c.6581C>G (p.Ala2194Gly) c.6578C>G (p.Ala2193Gly) c.6524C>G (p.Ala2175Gly) c.6577+7C>G (n.6577+7C>G) c.6449C>G (p.Ala2150Gly) c.6044C>G (p.Ala2015Gly) c.5402C>G (p.Ala1801Gly) c.2912C>G (p.Ala971Gly) n.6827C>G | |
10 | g.71793317C>T | CA377154715 | CDH23 | c.6389C>T (p.Ala2130Val) c.6404C>T (p.Ala2135Val) c.6584C>T (p.Ala2195Val) c.6518C>T (p.Ala2173Val) c.6581C>T (p.Ala2194Val) c.6578C>T (p.Ala2193Val) c.6524C>T (p.Ala2175Val) c.6577+7C>T (n.6577+7C>T) c.6449C>T (p.Ala2150Val) c.6044C>T (p.Ala2015Val) c.5402C>T (p.Ala1801Val) c.2912C>T (p.Ala971Val) n.6827C>T | ClinVar dbSNP |
10 | g.71793320_71793322del | CA5546067 | CDH23 | c.6392_6394del (p.Thr2131del) c.6407_6409del (p.Thr2136del) c.6587_6589del (p.Thr2196del) c.6521_6523del (p.Thr2174del) c.6584_6586del (p.Thr2195del) c.6581_6583del (p.Thr2194del) c.6527_6529del (p.Thr2176del) c.6577+10_6577+12del (n.6577+10_6577+12del) c.6452_6454del (p.Thr2151del) c.6047_6049del (p.Thr2016del) c.5405_5407del (p.Thr1802del) c.2915_2917del (p.Thr972del) n.6830_6832del | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793319A= | CA1918874253 | CDH23 | c.6391A= (p.Thr2131=) c.6406A= (p.Thr2136=) c.6586A= (p.Thr2196=) c.6520A= (p.Thr2174=) c.6583A= (p.Thr2195=) c.6580A= (p.Thr2194=) c.6526A= (p.Thr2176=) c.6577+9A= (n.6577+9A=) c.6451A= (p.Thr2151=) c.6046A= (p.Thr2016=) c.5404A= (p.Thr1802=) c.2914A= (p.Thr972=) n.6829A= | |
10 | g.71793319A>C | CA377154720 | CDH23 | c.6391A>C (p.Thr2131Pro) c.6406A>C (p.Thr2136Pro) c.6586A>C (p.Thr2196Pro) c.6520A>C (p.Thr2174Pro) c.6583A>C (p.Thr2195Pro) c.6580A>C (p.Thr2194Pro) c.6526A>C (p.Thr2176Pro) c.6577+9A>C (n.6577+9A>C) c.6451A>C (p.Thr2151Pro) c.6046A>C (p.Thr2016Pro) c.5404A>C (p.Thr1802Pro) c.2914A>C (p.Thr972Pro) n.6829A>C | |
10 | g.71793319A>G | CA377154722 | CDH23 | c.6391A>G (p.Thr2131Ala) c.6406A>G (p.Thr2136Ala) c.6586A>G (p.Thr2196Ala) c.6520A>G (p.Thr2174Ala) c.6583A>G (p.Thr2195Ala) c.6580A>G (p.Thr2194Ala) c.6526A>G (p.Thr2176Ala) c.6577+9A>G (n.6577+9A>G) c.6451A>G (p.Thr2151Ala) c.6046A>G (p.Thr2016Ala) c.5404A>G (p.Thr1802Ala) c.2914A>G (p.Thr972Ala) n.6829A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793319A>T | CA377154723 | CDH23 | c.6391A>T (p.Thr2131Ser) c.6406A>T (p.Thr2136Ser) c.6586A>T (p.Thr2196Ser) c.6520A>T (p.Thr2174Ser) c.6583A>T (p.Thr2195Ser) c.6580A>T (p.Thr2194Ser) c.6526A>T (p.Thr2176Ser) c.6577+9A>T (n.6577+9A>T) c.6451A>T (p.Thr2151Ser) c.6046A>T (p.Thr2016Ser) c.5404A>T (p.Thr1802Ser) c.2914A>T (p.Thr972Ser) n.6829A>T | |
10 | g.71793319_71793320delinsAC | CA1918874252 | CDH23 | c.6391_6392delinsAC (p.Thr2131=) c.6406_6407delinsAC (p.Thr2136=) c.6586_6587delinsAC (p.Thr2196=) c.6520_6521delinsAC (p.Thr2174=) c.6583_6584delinsAC (p.Thr2195=) c.6580_6581delinsAC (p.Thr2194=) c.6526_6527delinsAC (p.Thr2176=) c.6577+9_6577+10delinsAC (n.6577+9_6577+10delinsAC) c.6451_6452delinsAC (p.Thr2151=) c.6046_6047delinsAC (p.Thr2016=) c.5404_5405delinsAC (p.Thr1802=) c.2914_2915delinsAC (p.Thr972=) n.6829_6830delinsAC | |
10 | g.71793320C>A | CA377154730 | CDH23 | c.6392C>A (p.Thr2131Asn) c.6407C>A (p.Thr2136Asn) c.6587C>A (p.Thr2196Asn) c.6521C>A (p.Thr2174Asn) c.6584C>A (p.Thr2195Asn) c.6581C>A (p.Thr2194Asn) c.6527C>A (p.Thr2176Asn) c.6577+10C>A (n.6577+10C>A) c.6452C>A (p.Thr2151Asn) c.6047C>A (p.Thr2016Asn) c.5405C>A (p.Thr1802Asn) c.2915C>A (p.Thr972Asn) n.6830C>A | |
10 | g.71793320C= | CA1918874256 | CDH23 | c.6392C= (p.Thr2131=) c.6407C= (p.Thr2136=) c.6587C= (p.Thr2196=) c.6521C= (p.Thr2174=) c.6584C= (p.Thr2195=) c.6581C= (p.Thr2194=) c.6527C= (p.Thr2176=) c.6577+10C= (n.6577+10C=) c.6452C= (p.Thr2151=) c.6047C= (p.Thr2016=) c.5405C= (p.Thr1802=) c.2915C= (p.Thr972=) n.6830C= | |
10 | g.71793320C>G | CA5546069 | CDH23 | c.6392C>G (p.Thr2131Ser) c.6407C>G (p.Thr2136Ser) c.6587C>G (p.Thr2196Ser) c.6521C>G (p.Thr2174Ser) c.6584C>G (p.Thr2195Ser) c.6581C>G (p.Thr2194Ser) c.6527C>G (p.Thr2176Ser) c.6577+10C>G (n.6577+10C>G) c.6452C>G (p.Thr2151Ser) c.6047C>G (p.Thr2016Ser) c.5405C>G (p.Thr1802Ser) c.2915C>G (p.Thr972Ser) n.6830C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793320C>T | CA377154728 | CDH23 | c.6392C>T (p.Thr2131Ile) c.6407C>T (p.Thr2136Ile) c.6587C>T (p.Thr2196Ile) c.6521C>T (p.Thr2174Ile) c.6584C>T (p.Thr2195Ile) c.6581C>T (p.Thr2194Ile) c.6527C>T (p.Thr2176Ile) c.6577+10C>T (n.6577+10C>T) c.6452C>T (p.Thr2151Ile) c.6047C>T (p.Thr2016Ile) c.5405C>T (p.Thr1802Ile) c.2915C>T (p.Thr972Ile) n.6830C>T | gnomAD v4 |
10 | g.71793321del | CA5546068 | CDH23 | c.6393del (p.Ile2132SerfsTer11) c.6408del (p.Ile2137SerfsTer11) c.6588del (p.Ile2197SerfsTer11) c.6522del (p.Ile2175SerfsTer11) c.6585del (p.Ile2196SerfsTer11) c.6582del (p.Ile2195SerfsTer11) c.6528del (p.Ile2177SerfsTer11) c.6577+11del (n.6577+11del) c.6453del (p.Ile2152SerfsTer11) c.6048del (p.Ile2017SerfsTer11) c.5406del (p.Ile1803SerfsTer11) c.2916del (p.Ile973SerfsTer11) n.6831del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793320_71793321insA | CA2695212171 | CDH23 | c.6392_6393insA (p.Ile2132HisfsTer?) c.6407_6408insA (p.Ile2137HisfsTer?) c.6587_6588insA (p.Ile2197HisfsTer?) c.6521_6522insA (p.Ile2175HisfsTer?) c.6584_6585insA (p.Ile2196HisfsTer?) c.6581_6582insA (p.Ile2195HisfsTer?) c.6527_6528insA (p.Ile2177HisfsTer?) c.6577+10_6577+11insA (n.6577+10_6577+11insA) c.6452_6453insA (p.Ile2152HisfsTer?) c.6047_6048insA (p.Ile2017HisfsTer?) c.5405_5406insA (p.Ile1803HisfsTer?) c.2915_2916insA (p.Ile973HisfsTer?) n.6830_6831insA | |
10 | g.71793321C>G | CA2609580476 | CDH23 | c.6393C>G (p.Thr2131=) c.6408C>G (p.Thr2136=) c.6588C>G (p.Thr2196=) c.6522C>G (p.Thr2174=) c.6585C>G (p.Thr2195=) c.6582C>G (p.Thr2194=) c.6528C>G (p.Thr2176=) c.6577+11C>G (n.6577+11C>G) c.6453C>G (p.Thr2151=) c.6048C>G (p.Thr2016=) c.5406C>G (p.Thr1802=) c.2916C>G (p.Thr972=) n.6831C>G | gnomAD v4 |
10 | g.71793322A= | CA1918874259 | CDH23 | c.6394A= (p.Ile2132=) c.6409A= (p.Ile2137=) c.6589A= (p.Ile2197=) c.6523A= (p.Ile2175=) c.6586A= (p.Ile2196=) c.6583A= (p.Ile2195=) c.6529A= (p.Ile2177=) c.6577+12A= (n.6577+12A=) c.6454A= (p.Ile2152=) c.6049A= (p.Ile2017=) c.5407A= (p.Ile1803=) c.2917A= (p.Ile973=) n.6832A= | |
10 | g.71793322A>C | CA377154732 | CDH23 | c.6394A>C (p.Ile2132Leu) c.6409A>C (p.Ile2137Leu) c.6589A>C (p.Ile2197Leu) c.6523A>C (p.Ile2175Leu) c.6586A>C (p.Ile2196Leu) c.6583A>C (p.Ile2195Leu) c.6529A>C (p.Ile2177Leu) c.6577+12A>C (n.6577+12A>C) c.6454A>C (p.Ile2152Leu) c.6049A>C (p.Ile2017Leu) c.5407A>C (p.Ile1803Leu) c.2917A>C (p.Ile973Leu) n.6832A>C | |
10 | g.71793322A>G | CA5546070 | CDH23 | c.6394A>G (p.Ile2132Val) c.6409A>G (p.Ile2137Val) c.6589A>G (p.Ile2197Val) c.6523A>G (p.Ile2175Val) c.6586A>G (p.Ile2196Val) c.6583A>G (p.Ile2195Val) c.6529A>G (p.Ile2177Val) c.6577+12A>G (n.6577+12A>G) c.6454A>G (p.Ile2152Val) c.6049A>G (p.Ile2017Val) c.5407A>G (p.Ile1803Val) c.2917A>G (p.Ile973Val) n.6832A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793322A>T | CA377154736 | CDH23 | c.6394A>T (p.Ile2132Phe) c.6409A>T (p.Ile2137Phe) c.6589A>T (p.Ile2197Phe) c.6523A>T (p.Ile2175Phe) c.6586A>T (p.Ile2196Phe) c.6583A>T (p.Ile2195Phe) c.6529A>T (p.Ile2177Phe) c.6577+12A>T (n.6577+12A>T) c.6454A>T (p.Ile2152Phe) c.6049A>T (p.Ile2017Phe) c.5407A>T (p.Ile1803Phe) c.2917A>T (p.Ile973Phe) n.6832A>T | gnomAD v4 |
10 | g.71793323T>A | CA377154741 | CDH23 | c.6395T>A (p.Ile2132Asn) c.6410T>A (p.Ile2137Asn) c.6590T>A (p.Ile2197Asn) c.6524T>A (p.Ile2175Asn) c.6587T>A (p.Ile2196Asn) c.6584T>A (p.Ile2195Asn) c.6530T>A (p.Ile2177Asn) c.6577+13T>A (n.6577+13T>A) c.6455T>A (p.Ile2152Asn) c.6050T>A (p.Ile2017Asn) c.5408T>A (p.Ile1803Asn) c.2918T>A (p.Ile973Asn) n.6833T>A | |
10 | g.71793323T>C | CA377154742 | CDH23 | c.6395T>C (p.Ile2132Thr) c.6410T>C (p.Ile2137Thr) c.6590T>C (p.Ile2197Thr) c.6524T>C (p.Ile2175Thr) c.6587T>C (p.Ile2196Thr) c.6584T>C (p.Ile2195Thr) c.6530T>C (p.Ile2177Thr) c.6577+13T>C (n.6577+13T>C) c.6455T>C (p.Ile2152Thr) c.6050T>C (p.Ile2017Thr) c.5408T>C (p.Ile1803Thr) c.2918T>C (p.Ile973Thr) n.6833T>C | |
10 | g.71793323T>G | CA377154746 | CDH23 | c.6395T>G (p.Ile2132Ser) c.6410T>G (p.Ile2137Ser) c.6590T>G (p.Ile2197Ser) c.6524T>G (p.Ile2175Ser) c.6587T>G (p.Ile2196Ser) c.6584T>G (p.Ile2195Ser) c.6530T>G (p.Ile2177Ser) c.6577+13T>G (n.6577+13T>G) c.6455T>G (p.Ile2152Ser) c.6050T>G (p.Ile2017Ser) c.5408T>G (p.Ile1803Ser) c.2918T>G (p.Ile973Ser) n.6833T>G | |
10 | g.71793324del | CA2695212172 | CDH23 | c.6396del (p.Ile2132MetfsTer11) c.6411del (p.Ile2137MetfsTer11) c.6591del (p.Ile2197MetfsTer11) c.6525del (p.Ile2175MetfsTer11) c.6588del (p.Ile2196MetfsTer11) c.6585del (p.Ile2195MetfsTer11) c.6531del (p.Ile2177MetfsTer11) c.6577+14del (n.6577+14del) c.6456del (p.Ile2152MetfsTer11) c.6051del (p.Ile2017MetfsTer11) c.5409del (p.Ile1803MetfsTer11) c.2919del (p.Ile973MetfsTer11) n.6834del | |
10 | g.71793324C>A | CA2609580486 | CDH23 | c.6396C>A (p.Ile2132=) c.6411C>A (p.Ile2137=) c.6591C>A (p.Ile2197=) c.6525C>A (p.Ile2175=) c.6588C>A (p.Ile2196=) c.6585C>A (p.Ile2195=) c.6531C>A (p.Ile2177=) c.6577+14C>A (n.6577+14C>A) c.6456C>A (p.Ile2152=) c.6051C>A (p.Ile2017=) c.5409C>A (p.Ile1803=) c.2919C>A (p.Ile973=) n.6834C>A | gnomAD v4 |
10 | g.71793324C= | CA1918874260 | CDH23 | c.6396C= (p.Ile2132=) c.6411C= (p.Ile2137=) c.6591C= (p.Ile2197=) c.6525C= (p.Ile2175=) c.6588C= (p.Ile2196=) c.6585C= (p.Ile2195=) c.6531C= (p.Ile2177=) c.6577+14C= (n.6577+14C=) c.6456C= (p.Ile2152=) c.6051C= (p.Ile2017=) c.5409C= (p.Ile1803=) c.2919C= (p.Ile973=) n.6834C= | |
10 | g.71793324C>G | CA377154751 | CDH23 | c.6396C>G (p.Ile2132Met) c.6411C>G (p.Ile2137Met) c.6591C>G (p.Ile2197Met) c.6525C>G (p.Ile2175Met) c.6588C>G (p.Ile2196Met) c.6585C>G (p.Ile2195Met) c.6531C>G (p.Ile2177Met) c.6577+14C>G (n.6577+14C>G) c.6456C>G (p.Ile2152Met) c.6051C>G (p.Ile2017Met) c.5409C>G (p.Ile1803Met) c.2919C>G (p.Ile973Met) n.6834C>G | dbSNP gnomAD v4 |
10 | g.71793324C>T | CA594705920 | CDH23 | c.6396C>T (p.Ile2132=) c.6411C>T (p.Ile2137=) c.6591C>T (p.Ile2197=) c.6525C>T (p.Ile2175=) c.6588C>T (p.Ile2196=) c.6585C>T (p.Ile2195=) c.6531C>T (p.Ile2177=) c.6577+14C>T (n.6577+14C>T) c.6456C>T (p.Ile2152=) c.6051C>T (p.Ile2017=) c.5409C>T (p.Ile1803=) c.2919C>T (p.Ile973=) n.6834C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793325G>A | CA209466072 | CDH23 | c.6397G>A (p.Asp2133Asn) c.6412G>A (p.Asp2138Asn) c.6592G>A (p.Asp2198Asn) c.6526G>A (p.Asp2176Asn) c.6589G>A (p.Asp2197Asn) c.6586G>A (p.Asp2196Asn) c.6532G>A (p.Asp2178Asn) c.6577+15G>A (n.6577+15G>A) c.6457G>A (p.Asp2153Asn) c.6052G>A (p.Asp2018Asn) c.5410G>A (p.Asp1804Asn) c.2920G>A (p.Asp974Asn) n.6835G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793325G>C | CA377154758 | CDH23 | c.6397G>C (p.Asp2133His) c.6412G>C (p.Asp2138His) c.6592G>C (p.Asp2198His) c.6526G>C (p.Asp2176His) c.6589G>C (p.Asp2197His) c.6586G>C (p.Asp2196His) c.6532G>C (p.Asp2178His) c.6577+15G>C (n.6577+15G>C) c.6457G>C (p.Asp2153His) c.6052G>C (p.Asp2018His) c.5410G>C (p.Asp1804His) c.2920G>C (p.Asp974His) n.6835G>C | dbSNP |
10 | g.71793325G= | CA1918874262 | CDH23 | c.6397G= (p.Asp2133=) c.6412G= (p.Asp2138=) c.6592G= (p.Asp2198=) c.6526G= (p.Asp2176=) c.6589G= (p.Asp2197=) c.6586G= (p.Asp2196=) c.6532G= (p.Asp2178=) c.6577+15G= (n.6577+15G=) c.6457G= (p.Asp2153=) c.6052G= (p.Asp2018=) c.5410G= (p.Asp1804=) c.2920G= (p.Asp974=) n.6835G= | |
10 | g.71793325G>T | CA377154762 | CDH23 | c.6397G>T (p.Asp2133Tyr) c.6412G>T (p.Asp2138Tyr) c.6592G>T (p.Asp2198Tyr) c.6526G>T (p.Asp2176Tyr) c.6589G>T (p.Asp2197Tyr) c.6586G>T (p.Asp2196Tyr) c.6532G>T (p.Asp2178Tyr) c.6577+15G>T (n.6577+15G>T) c.6457G>T (p.Asp2153Tyr) c.6052G>T (p.Asp2018Tyr) c.5410G>T (p.Asp1804Tyr) c.2920G>T (p.Asp974Tyr) n.6835G>T |