Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71793327_71793331delinsCAGAG | CA1918874263 | CDH23 | c.6399_6403delinsCAGAG (p.Asp2133=) c.6414_6418delinsCAGAG (p.Asp2138=) c.6594_6598delinsCAGAG (p.Asp2198=) c.6528_6532delinsCAGAG (p.Asp2176=) c.6591_6595delinsCAGAG (p.Asp2197=) c.6588_6592delinsCAGAG (p.Asp2196=) c.6534_6538delinsCAGAG (p.Asp2178=) c.6577+17_6577+21delinsCAGAG (n.6577+17_6577+21delinsCAGAG) c.6459_6463delinsCAGAG (p.Asp2153=) c.6054_6058delinsCAGAG (p.Asp2018=) c.5412_5416delinsCAGAG (p.Asp1804=) c.2922_2926delinsCAGAG (p.Asp974=) n.6837_6841delinsCAGAG | |
10 | g.71793332_71793333del | CA2609580497 | CDH23 | c.6404_6405del (p.Glu2135GlyfsTer?) c.6419_6420del (p.Glu2140GlyfsTer?) c.6599_6600del (p.Glu2200GlyfsTer?) c.6533_6534del (p.Glu2178GlyfsTer?) c.6596_6597del (p.Glu2199GlyfsTer?) c.6593_6594del (p.Glu2198GlyfsTer?) c.6539_6540del (p.Glu2180GlyfsTer?) c.6577+22_6577+23del (n.6577+22_6577+23del) c.6464_6465del (p.Glu2155GlyfsTer?) c.6059_6060del (p.Glu2020GlyfsTer?) c.5417_5418del (p.Glu1806GlyfsTer?) c.2927_2928del (p.Glu976GlyfsTer?) n.6842_6843del | gnomAD v4 |
10 | g.71793330_71793333del | CA10603042 | CDH23 | c.6402_6405del (p.Glu2135SerfsTer7) c.6417_6420del (p.Glu2140SerfsTer7) c.6597_6600del (p.Glu2200SerfsTer7) c.6531_6534del (p.Glu2178SerfsTer7) c.6594_6597del (p.Glu2199SerfsTer7) c.6591_6594del (p.Glu2198SerfsTer7) c.6537_6540del (p.Glu2180SerfsTer7) c.6577+20_6577+23del (n.6577+20_6577+23del) c.6462_6465del (p.Glu2155SerfsTer7) c.6057_6060del (p.Glu2020SerfsTer7) c.5415_5418del (p.Glu1806SerfsTer7) c.2925_2928del (p.Glu976SerfsTer7) n.6840_6843del | ClinVar dbSNP |
10 | g.71793331G>A | CA377154817 | CDH23 | c.6403G>A (p.Glu2135Lys) c.6418G>A (p.Glu2140Lys) c.6598G>A (p.Glu2200Lys) c.6532G>A (p.Glu2178Lys) c.6595G>A (p.Glu2199Lys) c.6592G>A (p.Glu2198Lys) c.6538G>A (p.Glu2180Lys) c.6577+21G>A (n.6577+21G>A) c.6463G>A (p.Glu2155Lys) c.6058G>A (p.Glu2020Lys) c.5416G>A (p.Glu1806Lys) c.2926G>A (p.Glu976Lys) n.6841G>A | |
10 | g.71793331G>C | CA377154819 | CDH23 | c.6403G>C (p.Glu2135Gln) c.6418G>C (p.Glu2140Gln) c.6598G>C (p.Glu2200Gln) c.6532G>C (p.Glu2178Gln) c.6595G>C (p.Glu2199Gln) c.6592G>C (p.Glu2198Gln) c.6538G>C (p.Glu2180Gln) c.6577+21G>C (n.6577+21G>C) c.6463G>C (p.Glu2155Gln) c.6058G>C (p.Glu2020Gln) c.5416G>C (p.Glu1806Gln) c.2926G>C (p.Glu976Gln) n.6841G>C | COSMIC |
10 | g.71793331G>T | CA377154827 | CDH23 | c.6403G>T (p.Glu2135Ter) c.6418G>T (p.Glu2140Ter) c.6598G>T (p.Glu2200Ter) c.6532G>T (p.Glu2178Ter) c.6595G>T (p.Glu2199Ter) c.6592G>T (p.Glu2198Ter) c.6538G>T (p.Glu2180Ter) c.6577+21G>T (n.6577+21G>T) c.6463G>T (p.Glu2155Ter) c.6058G>T (p.Glu2020Ter) c.5416G>T (p.Glu1806Ter) c.2926G>T (p.Glu976Ter) n.6841G>T | |
10 | g.71793332A= | CA1918874267 | CDH23 | c.6404A= (p.Glu2135=) c.6419A= (p.Glu2140=) c.6599A= (p.Glu2200=) c.6533A= (p.Glu2178=) c.6596A= (p.Glu2199=) c.6593A= (p.Glu2198=) c.6539A= (p.Glu2180=) c.6577+22A= (n.6577+22A=) c.6464A= (p.Glu2155=) c.6059A= (p.Glu2020=) c.5417A= (p.Glu1806=) c.2927A= (p.Glu976=) n.6842A= | |
10 | g.71793332A>C | CA377154835 | CDH23 | c.6404A>C (p.Glu2135Ala) c.6419A>C (p.Glu2140Ala) c.6599A>C (p.Glu2200Ala) c.6533A>C (p.Glu2178Ala) c.6596A>C (p.Glu2199Ala) c.6593A>C (p.Glu2198Ala) c.6539A>C (p.Glu2180Ala) c.6577+22A>C (n.6577+22A>C) c.6464A>C (p.Glu2155Ala) c.6059A>C (p.Glu2020Ala) c.5417A>C (p.Glu1806Ala) c.2927A>C (p.Glu976Ala) n.6842A>C | |
10 | g.71793332A>G | CA377154832 | CDH23 | c.6404A>G (p.Glu2135Gly) c.6419A>G (p.Glu2140Gly) c.6599A>G (p.Glu2200Gly) c.6533A>G (p.Glu2178Gly) c.6596A>G (p.Glu2199Gly) c.6593A>G (p.Glu2198Gly) c.6539A>G (p.Glu2180Gly) c.6577+22A>G (n.6577+22A>G) c.6464A>G (p.Glu2155Gly) c.6059A>G (p.Glu2020Gly) c.5417A>G (p.Glu1806Gly) c.2927A>G (p.Glu976Gly) n.6842A>G | dbSNP |
10 | g.71793332A>T | CA377154830 | CDH23 | c.6404A>T (p.Glu2135Val) c.6419A>T (p.Glu2140Val) c.6599A>T (p.Glu2200Val) c.6533A>T (p.Glu2178Val) c.6596A>T (p.Glu2199Val) c.6593A>T (p.Glu2198Val) c.6539A>T (p.Glu2180Val) c.6577+22A>T (n.6577+22A>T) c.6464A>T (p.Glu2155Val) c.6059A>T (p.Glu2020Val) c.5417A>T (p.Glu1806Val) c.2927A>T (p.Glu976Val) n.6842A>T | |
10 | g.71793333G>A | CA1918874269 | CDH23 | c.6405G>A (p.Glu2135=) c.6420G>A (p.Glu2140=) c.6600G>A (p.Glu2200=) c.6534G>A (p.Glu2178=) c.6597G>A (p.Glu2199=) c.6594G>A (p.Glu2198=) c.6540G>A (p.Glu2180=) c.6577+23G>A (n.6577+23G>A) c.6465G>A (p.Glu2155=) c.6060G>A (p.Glu2020=) c.5418G>A (p.Glu1806=) c.2928G>A (p.Glu976=) n.6843G>A | ClinVar dbSNP gnomAD v4 |
10 | g.71793333G>C | CA377154839 | CDH23 | c.6405G>C (p.Glu2135Asp) c.6420G>C (p.Glu2140Asp) c.6600G>C (p.Glu2200Asp) c.6534G>C (p.Glu2178Asp) c.6597G>C (p.Glu2199Asp) c.6594G>C (p.Glu2198Asp) c.6540G>C (p.Glu2180Asp) c.6577+23G>C (n.6577+23G>C) c.6465G>C (p.Glu2155Asp) c.6060G>C (p.Glu2020Asp) c.5418G>C (p.Glu1806Asp) c.2928G>C (p.Glu976Asp) n.6843G>C | |
10 | g.71793333G= | CA1918874268 | CDH23 | c.6405G= (p.Glu2135=) c.6420G= (p.Glu2140=) c.6600G= (p.Glu2200=) c.6534G= (p.Glu2178=) c.6597G= (p.Glu2199=) c.6594G= (p.Glu2198=) c.6540G= (p.Glu2180=) c.6577+23G= (n.6577+23G=) c.6465G= (p.Glu2155=) c.6060G= (p.Glu2020=) c.5418G= (p.Glu1806=) c.2928G= (p.Glu976=) n.6843G= | |
10 | g.71793333G>T | CA377154843 | CDH23 | c.6405G>T (p.Glu2135Asp) c.6420G>T (p.Glu2140Asp) c.6600G>T (p.Glu2200Asp) c.6534G>T (p.Glu2178Asp) c.6597G>T (p.Glu2199Asp) c.6594G>T (p.Glu2198Asp) c.6540G>T (p.Glu2180Asp) c.6577+23G>T (n.6577+23G>T) c.6465G>T (p.Glu2155Asp) c.6060G>T (p.Glu2020Asp) c.5418G>T (p.Glu1806Asp) c.2928G>T (p.Glu976Asp) n.6843G>T | COSMIC |
10 | g.71793334G>A | CA377154848 | CDH23 | c.6406G>A (p.Glu2136Lys) c.6421G>A (p.Glu2141Lys) c.6601G>A (p.Glu2201Lys) c.6535G>A (p.Glu2179Lys) c.6598G>A (p.Glu2200Lys) c.6595G>A (p.Glu2199Lys) c.6541G>A (p.Glu2181Lys) c.6577+24G>A (n.6577+24G>A) c.6466G>A (p.Glu2156Lys) c.6061G>A (p.Glu2021Lys) c.5419G>A (p.Glu1807Lys) c.2929G>A (p.Glu977Lys) n.6844G>A | |
10 | g.71793334G>C | CA377154850 | CDH23 | c.6406G>C (p.Glu2136Gln) c.6421G>C (p.Glu2141Gln) c.6601G>C (p.Glu2201Gln) c.6535G>C (p.Glu2179Gln) c.6598G>C (p.Glu2200Gln) c.6595G>C (p.Glu2199Gln) c.6541G>C (p.Glu2181Gln) c.6577+24G>C (n.6577+24G>C) c.6466G>C (p.Glu2156Gln) c.6061G>C (p.Glu2021Gln) c.5419G>C (p.Glu1807Gln) c.2929G>C (p.Glu977Gln) n.6844G>C | |
10 | g.71793334G= | CA1918874270 | CDH23 | c.6406G= (p.Glu2136=) c.6421G= (p.Glu2141=) c.6601G= (p.Glu2201=) c.6535G= (p.Glu2179=) c.6598G= (p.Glu2200=) c.6595G= (p.Glu2199=) c.6541G= (p.Glu2181=) c.6577+24G= (n.6577+24G=) c.6466G= (p.Glu2156=) c.6061G= (p.Glu2021=) c.5419G= (p.Glu1807=) c.2929G= (p.Glu977=) n.6844G= | |
10 | g.71793334G>T | CA209466073 | CDH23 | c.6406G>T (p.Glu2136Ter) c.6421G>T (p.Glu2141Ter) c.6601G>T (p.Glu2201Ter) c.6535G>T (p.Glu2179Ter) c.6598G>T (p.Glu2200Ter) c.6595G>T (p.Glu2199Ter) c.6541G>T (p.Glu2181Ter) c.6577+24G>T (n.6577+24G>T) c.6466G>T (p.Glu2156Ter) c.6061G>T (p.Glu2021Ter) c.5419G>T (p.Glu1807Ter) c.2929G>T (p.Glu977Ter) n.6844G>T | dbSNP |
10 | g.71793335A>C | CA377154852 | CDH23 | c.6407A>C (p.Glu2136Ala) c.6422A>C (p.Glu2141Ala) c.6602A>C (p.Glu2201Ala) c.6536A>C (p.Glu2179Ala) c.6599A>C (p.Glu2200Ala) c.6596A>C (p.Glu2199Ala) c.6542A>C (p.Glu2181Ala) c.6577+25A>C (n.6577+25A>C) c.6467A>C (p.Glu2156Ala) c.6062A>C (p.Glu2021Ala) c.5420A>C (p.Glu1807Ala) c.2930A>C (p.Glu977Ala) n.6845A>C | |
10 | g.71793335A>G | CA377154856 | CDH23 | c.6407A>G (p.Glu2136Gly) c.6422A>G (p.Glu2141Gly) c.6602A>G (p.Glu2201Gly) c.6536A>G (p.Glu2179Gly) c.6599A>G (p.Glu2200Gly) c.6596A>G (p.Glu2199Gly) c.6542A>G (p.Glu2181Gly) c.6577+25A>G (n.6577+25A>G) c.6467A>G (p.Glu2156Gly) c.6062A>G (p.Glu2021Gly) c.5420A>G (p.Glu1807Gly) c.2930A>G (p.Glu977Gly) n.6845A>G | |
10 | g.71793335A>T | CA377154857 | CDH23 | c.6407A>T (p.Glu2136Val) c.6422A>T (p.Glu2141Val) c.6602A>T (p.Glu2201Val) c.6536A>T (p.Glu2179Val) c.6599A>T (p.Glu2200Val) c.6596A>T (p.Glu2199Val) c.6542A>T (p.Glu2181Val) c.6577+25A>T (n.6577+25A>T) c.6467A>T (p.Glu2156Val) c.6062A>T (p.Glu2021Val) c.5420A>T (p.Glu1807Val) c.2930A>T (p.Glu977Val) n.6845A>T | |
10 | g.71793336G>A | CA2722285805 | CDH23 | c.6408G>A (p.Glu2136=) c.6423G>A (p.Glu2141=) c.6603G>A (p.Glu2201=) c.6537G>A (p.Glu2179=) c.6600G>A (p.Glu2200=) c.6597G>A (p.Glu2199=) c.6543G>A (p.Glu2181=) c.6577+26G>A (n.6577+26G>A) c.6468G>A (p.Glu2156=) c.6063G>A (p.Glu2021=) c.5421G>A (p.Glu1807=) c.2931G>A (p.Glu977=) n.6846G>A | dbSNP |
10 | g.71793336G>C | CA377154860 | CDH23 | c.6408G>C (p.Glu2136Asp) c.6423G>C (p.Glu2141Asp) c.6603G>C (p.Glu2201Asp) c.6537G>C (p.Glu2179Asp) c.6600G>C (p.Glu2200Asp) c.6597G>C (p.Glu2199Asp) c.6543G>C (p.Glu2181Asp) c.6577+26G>C (n.6577+26G>C) c.6468G>C (p.Glu2156Asp) c.6063G>C (p.Glu2021Asp) c.5421G>C (p.Glu1807Asp) c.2931G>C (p.Glu977Asp) n.6846G>C | |
10 | g.71793336G>T | CA377154862 | CDH23 | c.6408G>T (p.Glu2136Asp) c.6423G>T (p.Glu2141Asp) c.6603G>T (p.Glu2201Asp) c.6537G>T (p.Glu2179Asp) c.6600G>T (p.Glu2200Asp) c.6597G>T (p.Glu2199Asp) c.6543G>T (p.Glu2181Asp) c.6577+26G>T (n.6577+26G>T) c.6468G>T (p.Glu2156Asp) c.6063G>T (p.Glu2021Asp) c.5421G>T (p.Glu1807Asp) c.2931G>T (p.Glu977Asp) n.6846G>T | |
10 | g.71793337C>A | CA377154864 | CDH23 | c.6409C>A (p.Gln2137Lys) c.6424C>A (p.Gln2142Lys) c.6604C>A (p.Gln2202Lys) c.6538C>A (p.Gln2180Lys) c.6601C>A (p.Gln2201Lys) c.6598C>A (p.Gln2200Lys) c.6544C>A (p.Gln2182Lys) c.6577+27C>A (n.6577+27C>A) c.6469C>A (p.Gln2157Lys) c.6064C>A (p.Gln2022Lys) c.5422C>A (p.Gln1808Lys) c.2932C>A (p.Gln978Lys) n.6847C>A | |
10 | g.71793337C>G | CA377154867 | CDH23 | c.6409C>G (p.Gln2137Glu) c.6424C>G (p.Gln2142Glu) c.6604C>G (p.Gln2202Glu) c.6538C>G (p.Gln2180Glu) c.6601C>G (p.Gln2201Glu) c.6598C>G (p.Gln2200Glu) c.6544C>G (p.Gln2182Glu) c.6577+27C>G (n.6577+27C>G) c.6469C>G (p.Gln2157Glu) c.6064C>G (p.Gln2022Glu) c.5422C>G (p.Gln1808Glu) c.2932C>G (p.Gln978Glu) n.6847C>G | |
10 | g.71793337C>T | CA377154869 | CDH23 | c.6409C>T (p.Gln2137Ter) c.6424C>T (p.Gln2142Ter) c.6604C>T (p.Gln2202Ter) c.6538C>T (p.Gln2180Ter) c.6601C>T (p.Gln2201Ter) c.6598C>T (p.Gln2200Ter) c.6544C>T (p.Gln2182Ter) c.6577+27C>T (n.6577+27C>T) c.6469C>T (p.Gln2157Ter) c.6064C>T (p.Gln2022Ter) c.5422C>T (p.Gln1808Ter) c.2932C>T (p.Gln978Ter) n.6847C>T | |
10 | g.71793338A= | CA1918874273 | CDH23 | c.6410A= (p.Gln2137=) c.6425A= (p.Gln2142=) c.6605A= (p.Gln2202=) c.6539A= (p.Gln2180=) c.6602A= (p.Gln2201=) c.6599A= (p.Gln2200=) c.6545A= (p.Gln2182=) c.6577+28A= (n.6577+28A=) c.6470A= (p.Gln2157=) c.6065A= (p.Gln2022=) c.5423A= (p.Gln1808=) c.2933A= (p.Gln978=) n.6848A= | |
10 | g.71793338A>C | CA209466075 | CDH23 | c.6410A>C (p.Gln2137Pro) c.6425A>C (p.Gln2142Pro) c.6605A>C (p.Gln2202Pro) c.6539A>C (p.Gln2180Pro) c.6602A>C (p.Gln2201Pro) c.6599A>C (p.Gln2200Pro) c.6545A>C (p.Gln2182Pro) c.6577+28A>C (n.6577+28A>C) c.6470A>C (p.Gln2157Pro) c.6065A>C (p.Gln2022Pro) c.5423A>C (p.Gln1808Pro) c.2933A>C (p.Gln978Pro) n.6848A>C | dbSNP |
10 | g.71793338A>G | CA377154882 | CDH23 | c.6410A>G (p.Gln2137Arg) c.6425A>G (p.Gln2142Arg) c.6605A>G (p.Gln2202Arg) c.6539A>G (p.Gln2180Arg) c.6602A>G (p.Gln2201Arg) c.6599A>G (p.Gln2200Arg) c.6545A>G (p.Gln2182Arg) c.6577+28A>G (n.6577+28A>G) c.6470A>G (p.Gln2157Arg) c.6065A>G (p.Gln2022Arg) c.5423A>G (p.Gln1808Arg) c.2933A>G (p.Gln978Arg) n.6848A>G | gnomAD v4 |
10 | g.71793338A>T | CA377154872 | CDH23 | c.6410A>T (p.Gln2137Leu) c.6425A>T (p.Gln2142Leu) c.6605A>T (p.Gln2202Leu) c.6539A>T (p.Gln2180Leu) c.6602A>T (p.Gln2201Leu) c.6599A>T (p.Gln2200Leu) c.6545A>T (p.Gln2182Leu) c.6577+28A>T (n.6577+28A>T) c.6470A>T (p.Gln2157Leu) c.6065A>T (p.Gln2022Leu) c.5423A>T (p.Gln1808Leu) c.2933A>T (p.Gln978Leu) n.6848A>T | |
10 | g.71793338_71793339delinsAG | CA1918874272 | CDH23 | c.6410_6411delinsAG (p.Gln2137=) c.6425_6426delinsAG (p.Gln2142=) c.6605_6606delinsAG (p.Gln2202=) c.6539_6540delinsAG (p.Gln2180=) c.6602_6603delinsAG (p.Gln2201=) c.6599_6600delinsAG (p.Gln2200=) c.6545_6546delinsAG (p.Gln2182=) c.6577+28_6577+29delinsAG (n.6577+28_6577+29delinsAG) c.6470_6471delinsAG (p.Gln2157=) c.6065_6066delinsAG (p.Gln2022=) c.5423_5424delinsAG (p.Gln1808=) c.2933_2934delinsAG (p.Gln978=) n.6848_6849delinsAG | |
10 | g.71793339G>A | CA668108962 | CDH23 | c.6411G>A (p.Gln2137=) c.6426G>A (p.Gln2142=) c.6606G>A (p.Gln2202=) c.6540G>A (p.Gln2180=) c.6603G>A (p.Gln2201=) c.6600G>A (p.Gln2200=) c.6546G>A (p.Gln2182=) c.6577+29G>A (n.6577+29G>A) c.6471G>A (p.Gln2157=) c.6066G>A (p.Gln2022=) c.5424G>A (p.Gln1808=) c.2934G>A (p.Gln978=) n.6849G>A | ClinVar dbSNP |
10 | g.71793339G>C | CA377154888 | CDH23 | c.6411G>C (p.Gln2137His) c.6426G>C (p.Gln2142His) c.6606G>C (p.Gln2202His) c.6540G>C (p.Gln2180His) c.6603G>C (p.Gln2201His) c.6600G>C (p.Gln2200His) c.6546G>C (p.Gln2182His) c.6577+29G>C (n.6577+29G>C) c.6471G>C (p.Gln2157His) c.6066G>C (p.Gln2022His) c.5424G>C (p.Gln1808His) c.2934G>C (p.Gln978His) n.6849G>C | |
10 | g.71793339G= | CA1918874276 | CDH23 | c.6411G= (p.Gln2137=) c.6426G= (p.Gln2142=) c.6606G= (p.Gln2202=) c.6540G= (p.Gln2180=) c.6603G= (p.Gln2201=) c.6600G= (p.Gln2200=) c.6546G= (p.Gln2182=) c.6577+29G= (n.6577+29G=) c.6471G= (p.Gln2157=) c.6066G= (p.Gln2022=) c.5424G= (p.Gln1808=) c.2934G= (p.Gln978=) n.6849G= | |
10 | g.71793339G>T | CA209466076 | CDH23 | c.6411G>T (p.Gln2137His) c.6426G>T (p.Gln2142His) c.6606G>T (p.Gln2202His) c.6540G>T (p.Gln2180His) c.6603G>T (p.Gln2201His) c.6600G>T (p.Gln2200His) c.6546G>T (p.Gln2182His) c.6577+29G>T (n.6577+29G>T) c.6471G>T (p.Gln2157His) c.6066G>T (p.Gln2022His) c.5424G>T (p.Gln1808His) c.2934G>T (p.Gln978His) n.6849G>T | dbSNP |
10 | g.71793340del | CA261795 | CDH23 | c.6412del (p.Glu2138SerfsTer5) c.6427del (p.Glu2143SerfsTer5) c.6607del (p.Glu2203SerfsTer5) c.6541del (p.Glu2181SerfsTer5) c.6604del (p.Glu2202SerfsTer5) c.6601del (p.Glu2201SerfsTer5) c.6547del (p.Glu2183SerfsTer5) c.6577+30del (n.6577+30del) c.6472del (p.Glu2158SerfsTer5) c.6067del (p.Glu2023SerfsTer5) c.5425del (p.Glu1809SerfsTer5) c.2935del (p.Glu979SerfsTer5) n.6850del | ClinVar dbSNP |
10 | g.71793340G>A | CA377154896 | CDH23 | c.6412G>A (p.Glu2138Lys) c.6427G>A (p.Glu2143Lys) c.6607G>A (p.Glu2203Lys) c.6541G>A (p.Glu2181Lys) c.6604G>A (p.Glu2202Lys) c.6601G>A (p.Glu2201Lys) c.6547G>A (p.Glu2183Lys) c.6577+30G>A (n.6577+30G>A) c.6472G>A (p.Glu2158Lys) c.6067G>A (p.Glu2023Lys) c.5425G>A (p.Glu1809Lys) c.2935G>A (p.Glu979Lys) n.6850G>A | |
10 | g.71793340G>C | CA377154893 | CDH23 | c.6412G>C (p.Glu2138Gln) c.6427G>C (p.Glu2143Gln) c.6607G>C (p.Glu2203Gln) c.6541G>C (p.Glu2181Gln) c.6604G>C (p.Glu2202Gln) c.6601G>C (p.Glu2201Gln) c.6547G>C (p.Glu2183Gln) c.6577+30G>C (n.6577+30G>C) c.6472G>C (p.Glu2158Gln) c.6067G>C (p.Glu2023Gln) c.5425G>C (p.Glu1809Gln) c.2935G>C (p.Glu979Gln) n.6850G>C | |
10 | g.71793340G>T | CA377154899 | CDH23 | c.6412G>T (p.Glu2138Ter) c.6427G>T (p.Glu2143Ter) c.6607G>T (p.Glu2203Ter) c.6541G>T (p.Glu2181Ter) c.6604G>T (p.Glu2202Ter) c.6601G>T (p.Glu2201Ter) c.6547G>T (p.Glu2183Ter) c.6577+30G>T (n.6577+30G>T) c.6472G>T (p.Glu2158Ter) c.6067G>T (p.Glu2023Ter) c.5425G>T (p.Glu1809Ter) c.2935G>T (p.Glu979Ter) n.6850G>T | |
10 | g.71793341A>C | CA377154902 | CDH23 | c.6413A>C (p.Glu2138Ala) c.6428A>C (p.Glu2143Ala) c.6608A>C (p.Glu2203Ala) c.6542A>C (p.Glu2181Ala) c.6605A>C (p.Glu2202Ala) c.6602A>C (p.Glu2201Ala) c.6548A>C (p.Glu2183Ala) c.6577+31A>C (n.6577+31A>C) c.6473A>C (p.Glu2158Ala) c.6068A>C (p.Glu2023Ala) c.5426A>C (p.Glu1809Ala) c.2936A>C (p.Glu979Ala) n.6851A>C | |
10 | g.71793341A>G | CA377154904 | CDH23 | c.6413A>G (p.Glu2138Gly) c.6428A>G (p.Glu2143Gly) c.6608A>G (p.Glu2203Gly) c.6542A>G (p.Glu2181Gly) c.6605A>G (p.Glu2202Gly) c.6602A>G (p.Glu2201Gly) c.6548A>G (p.Glu2183Gly) c.6577+31A>G (n.6577+31A>G) c.6473A>G (p.Glu2158Gly) c.6068A>G (p.Glu2023Gly) c.5426A>G (p.Glu1809Gly) c.2936A>G (p.Glu979Gly) n.6851A>G | gnomAD v4 COSMIC |
10 | g.71793341A>T | CA377154907 | CDH23 | c.6413A>T (p.Glu2138Val) c.6428A>T (p.Glu2143Val) c.6608A>T (p.Glu2203Val) c.6542A>T (p.Glu2181Val) c.6605A>T (p.Glu2202Val) c.6602A>T (p.Glu2201Val) c.6548A>T (p.Glu2183Val) c.6577+31A>T (n.6577+31A>T) c.6473A>T (p.Glu2158Val) c.6068A>T (p.Glu2023Val) c.5426A>T (p.Glu1809Val) c.2936A>T (p.Glu979Val) n.6851A>T | |
10 | g.71793342G>A | CA2722285850 | CDH23 | c.6414G>A (p.Glu2138=) c.6429G>A (p.Glu2143=) c.6609G>A (p.Glu2203=) c.6543G>A (p.Glu2181=) c.6606G>A (p.Glu2202=) c.6603G>A (p.Glu2201=) c.6549G>A (p.Glu2183=) c.6577+32G>A (n.6577+32G>A) c.6474G>A (p.Glu2158=) c.6069G>A (p.Glu2023=) c.5427G>A (p.Glu1809=) c.2937G>A (p.Glu979=) n.6852G>A | dbSNP |
10 | g.71793342G>C | CA377154910 | CDH23 | c.6414G>C (p.Glu2138Asp) c.6429G>C (p.Glu2143Asp) c.6609G>C (p.Glu2203Asp) c.6543G>C (p.Glu2181Asp) c.6606G>C (p.Glu2202Asp) c.6603G>C (p.Glu2201Asp) c.6549G>C (p.Glu2183Asp) c.6577+32G>C (n.6577+32G>C) c.6474G>C (p.Glu2158Asp) c.6069G>C (p.Glu2023Asp) c.5427G>C (p.Glu1809Asp) c.2937G>C (p.Glu979Asp) n.6852G>C | dbSNP |
10 | g.71793342G>T | CA377154912 | CDH23 | c.6414G>T (p.Glu2138Asp) c.6429G>T (p.Glu2143Asp) c.6609G>T (p.Glu2203Asp) c.6543G>T (p.Glu2181Asp) c.6606G>T (p.Glu2202Asp) c.6603G>T (p.Glu2201Asp) c.6549G>T (p.Glu2183Asp) c.6577+32G>T (n.6577+32G>T) c.6474G>T (p.Glu2158Asp) c.6069G>T (p.Glu2023Asp) c.5427G>T (p.Glu1809Asp) c.2937G>T (p.Glu979Asp) n.6852G>T | |
10 | g.71793343T>A | CA377154917 | CDH23 | c.6415T>A (p.Ser2139Thr) c.6430T>A (p.Ser2144Thr) c.6610T>A (p.Ser2204Thr) c.6544T>A (p.Ser2182Thr) c.6607T>A (p.Ser2203Thr) c.6604T>A (p.Ser2202Thr) c.6550T>A (p.Ser2184Thr) c.6577+33T>A (n.6577+33T>A) c.6475T>A (p.Ser2159Thr) c.6070T>A (p.Ser2024Thr) c.5428T>A (p.Ser1810Thr) c.2938T>A (p.Ser980Thr) n.6853T>A | |
10 | g.71793343T>C | CA377154920 | CDH23 | c.6415T>C (p.Ser2139Pro) c.6430T>C (p.Ser2144Pro) c.6610T>C (p.Ser2204Pro) c.6544T>C (p.Ser2182Pro) c.6607T>C (p.Ser2203Pro) c.6604T>C (p.Ser2202Pro) c.6550T>C (p.Ser2184Pro) c.6577+33T>C (n.6577+33T>C) c.6475T>C (p.Ser2159Pro) c.6070T>C (p.Ser2024Pro) c.5428T>C (p.Ser1810Pro) c.2938T>C (p.Ser980Pro) n.6853T>C | |
10 | g.71793343T>G | CA377154923 | CDH23 | c.6415T>G (p.Ser2139Ala) c.6430T>G (p.Ser2144Ala) c.6610T>G (p.Ser2204Ala) c.6544T>G (p.Ser2182Ala) c.6607T>G (p.Ser2203Ala) c.6604T>G (p.Ser2202Ala) c.6550T>G (p.Ser2184Ala) c.6577+33T>G (n.6577+33T>G) c.6475T>G (p.Ser2159Ala) c.6070T>G (p.Ser2024Ala) c.5428T>G (p.Ser1810Ala) c.2938T>G (p.Ser980Ala) n.6853T>G | |
10 | g.71793344C>A | CA377154925 | CDH23 | c.6416C>A (p.Ser2139Tyr) c.6431C>A (p.Ser2144Tyr) c.6611C>A (p.Ser2204Tyr) c.6545C>A (p.Ser2182Tyr) c.6608C>A (p.Ser2203Tyr) c.6605C>A (p.Ser2202Tyr) c.6551C>A (p.Ser2184Tyr) c.6577+34C>A (n.6577+34C>A) c.6476C>A (p.Ser2159Tyr) c.6071C>A (p.Ser2024Tyr) c.5429C>A (p.Ser1810Tyr) c.2939C>A (p.Ser980Tyr) n.6854C>A | |
10 | g.71793344C= | CA1918874277 | CDH23 | c.6416C= (p.Ser2139=) c.6431C= (p.Ser2144=) c.6611C= (p.Ser2204=) c.6545C= (p.Ser2182=) c.6608C= (p.Ser2203=) c.6605C= (p.Ser2202=) c.6551C= (p.Ser2184=) c.6577+34C= (n.6577+34C=) c.6476C= (p.Ser2159=) c.6071C= (p.Ser2024=) c.5429C= (p.Ser1810=) c.2939C= (p.Ser980=) n.6854C= | |
10 | g.71793344C>G | CA377154926 | CDH23 | c.6416C>G (p.Ser2139Cys) c.6431C>G (p.Ser2144Cys) c.6611C>G (p.Ser2204Cys) c.6545C>G (p.Ser2182Cys) c.6608C>G (p.Ser2203Cys) c.6605C>G (p.Ser2202Cys) c.6551C>G (p.Ser2184Cys) c.6577+34C>G (n.6577+34C>G) c.6476C>G (p.Ser2159Cys) c.6071C>G (p.Ser2024Cys) c.5429C>G (p.Ser1810Cys) c.2939C>G (p.Ser980Cys) n.6854C>G | dbSNP |
10 | g.71793344C>T | CA377154929 | CDH23 | c.6416C>T (p.Ser2139Phe) c.6431C>T (p.Ser2144Phe) c.6611C>T (p.Ser2204Phe) c.6545C>T (p.Ser2182Phe) c.6608C>T (p.Ser2203Phe) c.6605C>T (p.Ser2202Phe) c.6551C>T (p.Ser2184Phe) c.6577+34C>T (n.6577+34C>T) c.6476C>T (p.Ser2159Phe) c.6071C>T (p.Ser2024Phe) c.5429C>T (p.Ser1810Phe) c.2939C>T (p.Ser980Phe) n.6854C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793345C= | CA1918874279 | CDH23 | c.6417C= (p.Ser2139=) c.6432C= (p.Ser2144=) c.6612C= (p.Ser2204=) c.6546C= (p.Ser2182=) c.6609C= (p.Ser2203=) c.6606C= (p.Ser2202=) c.6552C= (p.Ser2184=) c.6577+35C= (n.6577+35C=) c.6477C= (p.Ser2159=) c.6072C= (p.Ser2024=) c.5430C= (p.Ser1810=) c.2940C= (p.Ser980=) n.6855C= | |
10 | g.71793345C>G | CA209466082 | CDH23 | c.6417C>G (p.Ser2139=) c.6432C>G (p.Ser2144=) c.6612C>G (p.Ser2204=) c.6546C>G (p.Ser2182=) c.6609C>G (p.Ser2203=) c.6606C>G (p.Ser2202=) c.6552C>G (p.Ser2184=) c.6577+35C>G (n.6577+35C>G) c.6477C>G (p.Ser2159=) c.6072C>G (p.Ser2024=) c.5430C>G (p.Ser1810=) c.2940C>G (p.Ser980=) n.6855C>G | dbSNP |
10 | g.71793345C>T | CA5546072 | CDH23 | c.6417C>T (p.Ser2139=) c.6432C>T (p.Ser2144=) c.6612C>T (p.Ser2204=) c.6546C>T (p.Ser2182=) c.6609C>T (p.Ser2203=) c.6606C>T (p.Ser2202=) c.6552C>T (p.Ser2184=) c.6577+35C>T (n.6577+35C>T) c.6477C>T (p.Ser2159=) c.6072C>T (p.Ser2024=) c.5430C>T (p.Ser1810=) c.2940C>T (p.Ser980=) n.6855C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793346T>A | CA377154933 | CDH23 | c.6418T>A (p.Tyr2140Asn) c.6433T>A (p.Tyr2145Asn) c.6613T>A (p.Tyr2205Asn) c.6547T>A (p.Tyr2183Asn) c.6610T>A (p.Tyr2204Asn) c.6607T>A (p.Tyr2203Asn) c.6553T>A (p.Tyr2185Asn) c.6577+36T>A (n.6577+36T>A) c.6478T>A (p.Tyr2160Asn) c.6073T>A (p.Tyr2025Asn) c.5431T>A (p.Tyr1811Asn) c.2941T>A (p.Tyr981Asn) n.6856T>A | |
10 | g.71793346T>C | CA377154937 | CDH23 | c.6418T>C (p.Tyr2140His) c.6433T>C (p.Tyr2145His) c.6613T>C (p.Tyr2205His) c.6547T>C (p.Tyr2183His) c.6610T>C (p.Tyr2204His) c.6607T>C (p.Tyr2203His) c.6553T>C (p.Tyr2185His) c.6577+36T>C (n.6577+36T>C) c.6478T>C (p.Tyr2160His) c.6073T>C (p.Tyr2025His) c.5431T>C (p.Tyr1811His) c.2941T>C (p.Tyr981His) n.6856T>C | ClinVar dbSNP gnomAD v4 |
10 | g.71793346T>G | CA377154936 | CDH23 | c.6418T>G (p.Tyr2140Asp) c.6433T>G (p.Tyr2145Asp) c.6613T>G (p.Tyr2205Asp) c.6547T>G (p.Tyr2183Asp) c.6610T>G (p.Tyr2204Asp) c.6607T>G (p.Tyr2203Asp) c.6553T>G (p.Tyr2185Asp) c.6577+36T>G (n.6577+36T>G) c.6478T>G (p.Tyr2160Asp) c.6073T>G (p.Tyr2025Asp) c.5431T>G (p.Tyr1811Asp) c.2941T>G (p.Tyr981Asp) n.6856T>G | |
10 | g.71793346T= | CA1918874281 | CDH23 | c.6418T= (p.Tyr2140=) c.6433T= (p.Tyr2145=) c.6613T= (p.Tyr2205=) c.6547T= (p.Tyr2183=) c.6610T= (p.Tyr2204=) c.6607T= (p.Tyr2203=) c.6553T= (p.Tyr2185=) c.6577+36T= (n.6577+36T=) c.6478T= (p.Tyr2160=) c.6073T= (p.Tyr2025=) c.5431T= (p.Tyr1811=) c.2941T= (p.Tyr981=) n.6856T= | |
10 | g.71793347A>C | CA377154939 | CDH23 | c.6419A>C (p.Tyr2140Ser) c.6434A>C (p.Tyr2145Ser) c.6614A>C (p.Tyr2205Ser) c.6548A>C (p.Tyr2183Ser) c.6611A>C (p.Tyr2204Ser) c.6608A>C (p.Tyr2203Ser) c.6554A>C (p.Tyr2185Ser) c.6577+37A>C (n.6577+37A>C) c.6479A>C (p.Tyr2160Ser) c.6074A>C (p.Tyr2025Ser) c.5432A>C (p.Tyr1811Ser) c.2942A>C (p.Tyr981Ser) n.6857A>C | |
10 | g.71793347A>G | CA377154941 | CDH23 | c.6419A>G (p.Tyr2140Cys) c.6434A>G (p.Tyr2145Cys) c.6614A>G (p.Tyr2205Cys) c.6548A>G (p.Tyr2183Cys) c.6611A>G (p.Tyr2204Cys) c.6608A>G (p.Tyr2203Cys) c.6554A>G (p.Tyr2185Cys) c.6577+37A>G (n.6577+37A>G) c.6479A>G (p.Tyr2160Cys) c.6074A>G (p.Tyr2025Cys) c.5432A>G (p.Tyr1811Cys) c.2942A>G (p.Tyr981Cys) n.6857A>G | |
10 | g.71793347A>T | CA377154945 | CDH23 | c.6419A>T (p.Tyr2140Phe) c.6434A>T (p.Tyr2145Phe) c.6614A>T (p.Tyr2205Phe) c.6548A>T (p.Tyr2183Phe) c.6611A>T (p.Tyr2204Phe) c.6608A>T (p.Tyr2203Phe) c.6554A>T (p.Tyr2185Phe) c.6577+37A>T (n.6577+37A>T) c.6479A>T (p.Tyr2160Phe) c.6074A>T (p.Tyr2025Phe) c.5432A>T (p.Tyr1811Phe) c.2942A>T (p.Tyr981Phe) n.6857A>T | |
10 | g.71793348C>A | CA377154948 | CDH23 | c.6420C>A (p.Tyr2140Ter) c.6435C>A (p.Tyr2145Ter) c.6615C>A (p.Tyr2205Ter) c.6549C>A (p.Tyr2183Ter) c.6612C>A (p.Tyr2204Ter) c.6609C>A (p.Tyr2203Ter) c.6555C>A (p.Tyr2185Ter) c.6577+38C>A (n.6577+38C>A) c.6480C>A (p.Tyr2160Ter) c.6075C>A (p.Tyr2025Ter) c.5433C>A (p.Tyr1811Ter) c.2943C>A (p.Tyr981Ter) n.6858C>A | |
10 | g.71793348C= | CA1918874283 | CDH23 | c.6420C= (p.Tyr2140=) c.6435C= (p.Tyr2145=) c.6615C= (p.Tyr2205=) c.6549C= (p.Tyr2183=) c.6612C= (p.Tyr2204=) c.6609C= (p.Tyr2203=) c.6555C= (p.Tyr2185=) c.6577+38C= (n.6577+38C=) c.6480C= (p.Tyr2160=) c.6075C= (p.Tyr2025=) c.5433C= (p.Tyr1811=) c.2943C= (p.Tyr981=) n.6858C= | |
10 | g.71793348C>G | CA5546073 | CDH23 | c.6420C>G (p.Tyr2140Ter) c.6435C>G (p.Tyr2145Ter) c.6615C>G (p.Tyr2205Ter) c.6549C>G (p.Tyr2183Ter) c.6612C>G (p.Tyr2204Ter) c.6609C>G (p.Tyr2203Ter) c.6555C>G (p.Tyr2185Ter) c.6577+38C>G (n.6577+38C>G) c.6480C>G (p.Tyr2160Ter) c.6075C>G (p.Tyr2025Ter) c.5433C>G (p.Tyr1811Ter) c.2943C>G (p.Tyr981Ter) n.6858C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793348C>T | CA2538860961 | CDH23 | c.6420C>T (p.Tyr2140=) c.6435C>T (p.Tyr2145=) c.6615C>T (p.Tyr2205=) c.6549C>T (p.Tyr2183=) c.6612C>T (p.Tyr2204=) c.6609C>T (p.Tyr2203=) c.6555C>T (p.Tyr2185=) c.6577+38C>T (n.6577+38C>T) c.6480C>T (p.Tyr2160=) c.6075C>T (p.Tyr2025=) c.5433C>T (p.Tyr1811=) c.2943C>T (p.Tyr981=) n.6858C>T | ClinVar dbSNP gnomAD v4 |
10 | g.71793349A= | CA1918874286 | CDH23 | c.6421A= (p.Arg2141=) c.6436A= (p.Arg2146=) c.6616A= (p.Arg2206=) c.6550A= (p.Arg2184=) c.6613A= (p.Arg2205=) c.6610A= (p.Arg2204=) c.6556A= (p.Arg2186=) c.6577+39A= (n.6577+39A=) c.6481A= (p.Arg2161=) c.6076A= (p.Arg2026=) c.5434A= (p.Arg1812=) c.2944A= (p.Arg982=) n.6859A= | |
10 | g.71793349A>C | CA1918874288 | CDH23 | c.6421A>C (p.Arg2141=) c.6436A>C (p.Arg2146=) c.6616A>C (p.Arg2206=) c.6550A>C (p.Arg2184=) c.6613A>C (p.Arg2205=) c.6610A>C (p.Arg2204=) c.6556A>C (p.Arg2186=) c.6577+39A>C (n.6577+39A>C) c.6481A>C (p.Arg2161=) c.6076A>C (p.Arg2026=) c.5434A>C (p.Arg1812=) c.2944A>C (p.Arg982=) n.6859A>C | ClinVar dbSNP gnomAD v4 |
10 | g.71793349A>G | CA5546074 | CDH23 | c.6421A>G (p.Arg2141Gly) c.6436A>G (p.Arg2146Gly) c.6616A>G (p.Arg2206Gly) c.6550A>G (p.Arg2184Gly) c.6613A>G (p.Arg2205Gly) c.6610A>G (p.Arg2204Gly) c.6556A>G (p.Arg2186Gly) c.6577+39A>G (n.6577+39A>G) c.6481A>G (p.Arg2161Gly) c.6076A>G (p.Arg2026Gly) c.5434A>G (p.Arg1812Gly) c.2944A>G (p.Arg982Gly) n.6859A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793349A>T | CA377154953 | CDH23 | c.6421A>T (p.Arg2141Trp) c.6436A>T (p.Arg2146Trp) c.6616A>T (p.Arg2206Trp) c.6550A>T (p.Arg2184Trp) c.6613A>T (p.Arg2205Trp) c.6610A>T (p.Arg2204Trp) c.6556A>T (p.Arg2186Trp) c.6577+39A>T (n.6577+39A>T) c.6481A>T (p.Arg2161Trp) c.6076A>T (p.Arg2026Trp) c.5434A>T (p.Arg1812Trp) c.2944A>T (p.Arg982Trp) n.6859A>T | |
10 | g.71793350G>A | CA5546075 | CDH23 | c.6422G>A (p.Arg2141Lys) c.6437G>A (p.Arg2146Lys) c.6617G>A (p.Arg2206Lys) c.6551G>A (p.Arg2184Lys) c.6614G>A (p.Arg2205Lys) c.6611G>A (p.Arg2204Lys) c.6557G>A (p.Arg2186Lys) c.6577+40G>A (n.6577+40G>A) c.6482G>A (p.Arg2161Lys) c.6077G>A (p.Arg2026Lys) c.5435G>A (p.Arg1812Lys) c.2945G>A (p.Arg982Lys) n.6860G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793350G>C | CA377154955 | CDH23 | c.6422G>C (p.Arg2141Thr) c.6437G>C (p.Arg2146Thr) c.6617G>C (p.Arg2206Thr) c.6551G>C (p.Arg2184Thr) c.6614G>C (p.Arg2205Thr) c.6611G>C (p.Arg2204Thr) c.6557G>C (p.Arg2186Thr) c.6577+40G>C (n.6577+40G>C) c.6482G>C (p.Arg2161Thr) c.6077G>C (p.Arg2026Thr) c.5435G>C (p.Arg1812Thr) c.2945G>C (p.Arg982Thr) n.6860G>C | |
10 | g.71793350G= | CA1918874290 | CDH23 | c.6422G= (p.Arg2141=) c.6437G= (p.Arg2146=) c.6617G= (p.Arg2206=) c.6551G= (p.Arg2184=) c.6614G= (p.Arg2205=) c.6611G= (p.Arg2204=) c.6557G= (p.Arg2186=) c.6577+40G= (n.6577+40G=) c.6482G= (p.Arg2161=) c.6077G= (p.Arg2026=) c.5435G= (p.Arg1812=) c.2945G= (p.Arg982=) n.6860G= | |
10 | g.71793350G>T | CA209466097 | CDH23 | c.6422G>T (p.Arg2141Met) c.6437G>T (p.Arg2146Met) c.6617G>T (p.Arg2206Met) c.6551G>T (p.Arg2184Met) c.6614G>T (p.Arg2205Met) c.6611G>T (p.Arg2204Met) c.6557G>T (p.Arg2186Met) c.6577+40G>T (n.6577+40G>T) c.6482G>T (p.Arg2161Met) c.6077G>T (p.Arg2026Met) c.5435G>T (p.Arg1812Met) c.2945G>T (p.Arg982Met) n.6860G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793351G>A | CA929791334 | CDH23 | c.6423G>A (p.Arg2141=) c.6438G>A (p.Arg2146=) c.6618G>A (p.Arg2206=) c.6552G>A (p.Arg2184=) c.6615G>A (p.Arg2205=) c.6612G>A (p.Arg2204=) c.6558G>A (p.Arg2186=) c.6577+41G>A (n.6577+41G>A) c.6483G>A (p.Arg2161=) c.6078G>A (p.Arg2026=) c.5436G>A (p.Arg1812=) c.2946G>A (p.Arg982=) n.6861G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793351G>C | CA5546076 | CDH23 | c.6423G>C (p.Arg2141Ser) c.6438G>C (p.Arg2146Ser) c.6618G>C (p.Arg2206Ser) c.6552G>C (p.Arg2184Ser) c.6615G>C (p.Arg2205Ser) c.6612G>C (p.Arg2204Ser) c.6558G>C (p.Arg2186Ser) c.6577+41G>C (n.6577+41G>C) c.6483G>C (p.Arg2161Ser) c.6078G>C (p.Arg2026Ser) c.5436G>C (p.Arg1812Ser) c.2946G>C (p.Arg982Ser) n.6861G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793351G= | CA1918874292 | CDH23 | c.6423G= (p.Arg2141=) c.6438G= (p.Arg2146=) c.6618G= (p.Arg2206=) c.6552G= (p.Arg2184=) c.6615G= (p.Arg2205=) c.6612G= (p.Arg2204=) c.6558G= (p.Arg2186=) c.6577+41G= (n.6577+41G=) c.6483G= (p.Arg2161=) c.6078G= (p.Arg2026=) c.5436G= (p.Arg1812=) c.2946G= (p.Arg982=) n.6861G= | |
10 | g.71793351G>T | CA377154959 | CDH23 | c.6423G>T (p.Arg2141Ser) c.6438G>T (p.Arg2146Ser) c.6618G>T (p.Arg2206Ser) c.6552G>T (p.Arg2184Ser) c.6615G>T (p.Arg2205Ser) c.6612G>T (p.Arg2204Ser) c.6558G>T (p.Arg2186Ser) c.6577+41G>T (n.6577+41G>T) c.6483G>T (p.Arg2161Ser) c.6078G>T (p.Arg2026Ser) c.5436G>T (p.Arg1812Ser) c.2946G>T (p.Arg982Ser) n.6861G>T | |
10 | g.71793352C>A | CA377154961 | CDH23 | c.6424C>A (p.Leu2142Ile) c.6439C>A (p.Leu2147Ile) c.6619C>A (p.Leu2207Ile) c.6553C>A (p.Leu2185Ile) c.6616C>A (p.Leu2206Ile) c.6613C>A (p.Leu2205Ile) c.6559C>A (p.Leu2187Ile) c.6577+42C>A (n.6577+42C>A) c.6484C>A (p.Leu2162Ile) c.6079C>A (p.Leu2027Ile) c.5437C>A (p.Leu1813Ile) c.2947C>A (p.Leu983Ile) n.6862C>A | |
10 | g.71793352C>G | CA377154963 | CDH23 | c.6424C>G (p.Leu2142Val) c.6439C>G (p.Leu2147Val) c.6619C>G (p.Leu2207Val) c.6553C>G (p.Leu2185Val) c.6616C>G (p.Leu2206Val) c.6613C>G (p.Leu2205Val) c.6559C>G (p.Leu2187Val) c.6577+42C>G (n.6577+42C>G) c.6484C>G (p.Leu2162Val) c.6079C>G (p.Leu2027Val) c.5437C>G (p.Leu1813Val) c.2947C>G (p.Leu983Val) n.6862C>G | |
10 | g.71793352C>T | CA2722285895 | CDH23 | c.6424C>T (p.Leu2142=) c.6439C>T (p.Leu2147=) c.6619C>T (p.Leu2207=) c.6553C>T (p.Leu2185=) c.6616C>T (p.Leu2206=) c.6613C>T (p.Leu2205=) c.6559C>T (p.Leu2187=) c.6577+42C>T (n.6577+42C>T) c.6484C>T (p.Leu2162=) c.6079C>T (p.Leu2027=) c.5437C>T (p.Leu1813=) c.2947C>T (p.Leu983=) n.6862C>T | dbSNP |
10 | g.71793353T>A | CA377154965 | CDH23 | c.6425T>A (p.Leu2142Gln) c.6440T>A (p.Leu2147Gln) c.6620T>A (p.Leu2207Gln) c.6554T>A (p.Leu2185Gln) c.6617T>A (p.Leu2206Gln) c.6614T>A (p.Leu2205Gln) c.6560T>A (p.Leu2187Gln) c.6577+43T>A (n.6577+43T>A) c.6485T>A (p.Leu2162Gln) c.6080T>A (p.Leu2027Gln) c.5438T>A (p.Leu1813Gln) c.2948T>A (p.Leu983Gln) n.6863T>A | |
10 | g.71793353T>C | CA377154967 | CDH23 | c.6425T>C (p.Leu2142Pro) c.6440T>C (p.Leu2147Pro) c.6620T>C (p.Leu2207Pro) c.6554T>C (p.Leu2185Pro) c.6617T>C (p.Leu2206Pro) c.6614T>C (p.Leu2205Pro) c.6560T>C (p.Leu2187Pro) c.6577+43T>C (n.6577+43T>C) c.6485T>C (p.Leu2162Pro) c.6080T>C (p.Leu2027Pro) c.5438T>C (p.Leu1813Pro) c.2948T>C (p.Leu983Pro) n.6863T>C | dbSNP |
10 | g.71793353T>G | CA377154969 | CDH23 | c.6425T>G (p.Leu2142Arg) c.6440T>G (p.Leu2147Arg) c.6620T>G (p.Leu2207Arg) c.6554T>G (p.Leu2185Arg) c.6617T>G (p.Leu2206Arg) c.6614T>G (p.Leu2205Arg) c.6560T>G (p.Leu2187Arg) c.6577+43T>G (n.6577+43T>G) c.6485T>G (p.Leu2162Arg) c.6080T>G (p.Leu2027Arg) c.5438T>G (p.Leu1813Arg) c.2948T>G (p.Leu983Arg) n.6863T>G | |
10 | g.71793353T= | CA1918874294 | CDH23 | c.6425T= (p.Leu2142=) c.6440T= (p.Leu2147=) c.6620T= (p.Leu2207=) c.6554T= (p.Leu2185=) c.6617T= (p.Leu2206=) c.6614T= (p.Leu2205=) c.6560T= (p.Leu2187=) c.6577+43T= (n.6577+43T=) c.6485T= (p.Leu2162=) c.6080T= (p.Leu2027=) c.5438T= (p.Leu1813=) c.2948T= (p.Leu983=) n.6863T= | |
10 | g.71793354A= | CA1918874295 | CDH23 | c.6426A= (p.Leu2142=) c.6441A= (p.Leu2147=) c.6621A= (p.Leu2207=) c.6555A= (p.Leu2185=) c.6618A= (p.Leu2206=) c.6615A= (p.Leu2205=) c.6561A= (p.Leu2187=) c.6577+44A= (n.6577+44A=) c.6486A= (p.Leu2162=) c.6081A= (p.Leu2027=) c.5439A= (p.Leu1813=) c.2949A= (p.Leu983=) n.6864A= | |
10 | g.71793354A>G | CA137533 | CDH23 | c.6426A>G (p.Leu2142=) c.6441A>G (p.Leu2147=) c.6621A>G (p.Leu2207=) c.6555A>G (p.Leu2185=) c.6618A>G (p.Leu2206=) c.6615A>G (p.Leu2205=) c.6561A>G (p.Leu2187=) c.6577+44A>G (n.6577+44A>G) c.6486A>G (p.Leu2162=) c.6081A>G (p.Leu2027=) c.5439A>G (p.Leu1813=) c.2949A>G (p.Leu983=) n.6864A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793355A= | CA1918874299 | CDH23 | c.6427A= (p.Thr2143=) c.6442A= (p.Thr2148=) c.6622A= (p.Thr2208=) c.6556A= (p.Thr2186=) c.6619A= (p.Thr2207=) c.6616A= (p.Thr2206=) c.6562A= (p.Thr2188=) c.6578-46A= (n.6578-46A=) c.6487A= (p.Thr2163=) c.6082A= (p.Thr2028=) c.5440A= (p.Thr1814=) c.2950A= (p.Thr984=) n.6865A= | |
10 | g.71793355A>C | CA5546077 | CDH23 | c.6427A>C (p.Thr2143Pro) c.6442A>C (p.Thr2148Pro) c.6622A>C (p.Thr2208Pro) c.6556A>C (p.Thr2186Pro) c.6619A>C (p.Thr2207Pro) c.6616A>C (p.Thr2206Pro) c.6562A>C (p.Thr2188Pro) c.6578-46A>C (n.6578-46A>C) c.6487A>C (p.Thr2163Pro) c.6082A>C (p.Thr2028Pro) c.5440A>C (p.Thr1814Pro) c.2950A>C (p.Thr984Pro) n.6865A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793355A>G | CA377154971 | CDH23 | c.6427A>G (p.Thr2143Ala) c.6442A>G (p.Thr2148Ala) c.6622A>G (p.Thr2208Ala) c.6556A>G (p.Thr2186Ala) c.6619A>G (p.Thr2207Ala) c.6616A>G (p.Thr2206Ala) c.6562A>G (p.Thr2188Ala) c.6578-46A>G (n.6578-46A>G) c.6487A>G (p.Thr2163Ala) c.6082A>G (p.Thr2028Ala) c.5440A>G (p.Thr1814Ala) c.2950A>G (p.Thr984Ala) n.6865A>G | |
10 | g.71793355A>T | CA377154973 | CDH23 | c.6427A>T (p.Thr2143Ser) c.6442A>T (p.Thr2148Ser) c.6622A>T (p.Thr2208Ser) c.6556A>T (p.Thr2186Ser) c.6619A>T (p.Thr2207Ser) c.6616A>T (p.Thr2206Ser) c.6562A>T (p.Thr2188Ser) c.6578-46A>T (n.6578-46A>T) c.6487A>T (p.Thr2163Ser) c.6082A>T (p.Thr2028Ser) c.5440A>T (p.Thr1814Ser) c.2950A>T (p.Thr984Ser) n.6865A>T | |
10 | g.71793356C>A | CA377154975 | CDH23 | c.6428C>A (p.Thr2143Lys) c.6443C>A (p.Thr2148Lys) c.6623C>A (p.Thr2208Lys) c.6557C>A (p.Thr2186Lys) c.6620C>A (p.Thr2207Lys) c.6617C>A (p.Thr2206Lys) c.6563C>A (p.Thr2188Lys) c.6578-45C>A (n.6578-45C>A) c.6488C>A (p.Thr2163Lys) c.6083C>A (p.Thr2028Lys) c.5441C>A (p.Thr1814Lys) c.2951C>A (p.Thr984Lys) n.6866C>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793356C= | CA1918874302 | CDH23 | c.6428C= (p.Thr2143=) c.6443C= (p.Thr2148=) c.6623C= (p.Thr2208=) c.6557C= (p.Thr2186=) c.6620C= (p.Thr2207=) c.6617C= (p.Thr2206=) c.6563C= (p.Thr2188=) c.6578-45C= (n.6578-45C=) c.6488C= (p.Thr2163=) c.6083C= (p.Thr2028=) c.5441C= (p.Thr1814=) c.2951C= (p.Thr984=) n.6866C= | |
10 | g.71793356C>G | CA377154978 | CDH23 | c.6428C>G (p.Thr2143Arg) c.6443C>G (p.Thr2148Arg) c.6623C>G (p.Thr2208Arg) c.6557C>G (p.Thr2186Arg) c.6620C>G (p.Thr2207Arg) c.6617C>G (p.Thr2206Arg) c.6563C>G (p.Thr2188Arg) c.6578-45C>G (n.6578-45C>G) c.6488C>G (p.Thr2163Arg) c.6083C>G (p.Thr2028Arg) c.5441C>G (p.Thr1814Arg) c.2951C>G (p.Thr984Arg) n.6866C>G | dbSNP |
10 | g.71793356C>T | CA377154979 | CDH23 | c.6428C>T (p.Thr2143Met) c.6443C>T (p.Thr2148Met) c.6623C>T (p.Thr2208Met) c.6557C>T (p.Thr2186Met) c.6620C>T (p.Thr2207Met) c.6617C>T (p.Thr2206Met) c.6563C>T (p.Thr2188Met) c.6578-45C>T (n.6578-45C>T) c.6488C>T (p.Thr2163Met) c.6083C>T (p.Thr2028Met) c.5441C>T (p.Thr1814Met) c.2951C>T (p.Thr984Met) n.6866C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793356_71793359delinsCGGT | CA1918874301 | CDH23 | c.6428_6431delinsCGGT (p.Thr2143=) c.6443_6446delinsCGGT (p.Thr2148=) c.6623_6626delinsCGGT (p.Thr2208=) c.6557_6560delinsCGGT (p.Thr2186=) c.6620_6623delinsCGGT (p.Thr2207=) c.6617_6620delinsCGGT (p.Thr2206=) c.6563_6566delinsCGGT (p.Thr2188=) c.6578-45_6578-42delinsCGGT (n.6578-45_6578-42delinsCGGT) c.6488_6491delinsCGGT (p.Thr2163=) c.6083_6086delinsCGGT (p.Thr2028=) c.5441_5444delinsCGGT (p.Thr1814=) c.2951_2954delinsCGGT (p.Thr984=) n.6866_6869delinsCGGT | |
10 | g.71793357G>A | CA5546078 | CDH23 | c.6429G>A (p.Thr2143=) c.6444G>A (p.Thr2148=) c.6624G>A (p.Thr2208=) c.6558G>A (p.Thr2186=) c.6621G>A (p.Thr2207=) c.6618G>A (p.Thr2206=) c.6564G>A (p.Thr2188=) c.6578-44G>A (n.6578-44G>A) c.6489G>A (p.Thr2163=) c.6084G>A (p.Thr2028=) c.5442G>A (p.Thr1814=) c.2952G>A (p.Thr984=) n.6867G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71793357G= | CA1918874306 | CDH23 | c.6429G= (p.Thr2143=) c.6444G= (p.Thr2148=) c.6624G= (p.Thr2208=) c.6558G= (p.Thr2186=) c.6621G= (p.Thr2207=) c.6618G= (p.Thr2206=) c.6564G= (p.Thr2188=) c.6578-44G= (n.6578-44G=) c.6489G= (p.Thr2163=) c.6084G= (p.Thr2028=) c.5442G= (p.Thr1814=) c.2952G= (p.Thr984=) n.6867G= | |
10 | g.71793357G>T | CA2609580574 | CDH23 | c.6429G>T (p.Thr2143=) c.6444G>T (p.Thr2148=) c.6624G>T (p.Thr2208=) c.6558G>T (p.Thr2186=) c.6621G>T (p.Thr2207=) c.6618G>T (p.Thr2206=) c.6564G>T (p.Thr2188=) c.6578-44G>T (n.6578-44G>T) c.6489G>T (p.Thr2163=) c.6084G>T (p.Thr2028=) c.5442G>T (p.Thr1814=) c.2952G>T (p.Thr984=) n.6867G>T | dbSNP gnomAD v4 |
10 | g.71793362_71793364del | CA594705921 | CDH23 | c.6434_6436del (p.Val2145del) c.6449_6451del (p.Val2150del) c.6629_6631del (p.Val2210del) c.6563_6565del (p.Val2188del) c.6626_6628del (p.Val2209del) c.6623_6625del (p.Val2208del) c.6569_6571del (p.Val2190del) c.6578-39_6578-37del (n.6578-39_6578-37del) c.6494_6496del (p.Val2165del) c.6089_6091del (p.Val2030del) c.5447_5449del (p.Val1816del) c.2957_2959del (p.Val986del) n.6872_6874del | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793358G>A | CA377154984 | CDH23 | c.6430G>A (p.Val2144Met) c.6445G>A (p.Val2149Met) c.6625G>A (p.Val2209Met) c.6559G>A (p.Val2187Met) c.6622G>A (p.Val2208Met) c.6619G>A (p.Val2207Met) c.6565G>A (p.Val2189Met) c.6578-43G>A (n.6578-43G>A) c.6490G>A (p.Val2164Met) c.6085G>A (p.Val2029Met) c.5443G>A (p.Val1815Met) c.2953G>A (p.Val985Met) n.6868G>A | dbSNP |
10 | g.71793358G>C | CA377154981 | CDH23 | c.6430G>C (p.Val2144Leu) c.6445G>C (p.Val2149Leu) c.6625G>C (p.Val2209Leu) c.6559G>C (p.Val2187Leu) c.6622G>C (p.Val2208Leu) c.6619G>C (p.Val2207Leu) c.6565G>C (p.Val2189Leu) c.6578-43G>C (n.6578-43G>C) c.6490G>C (p.Val2164Leu) c.6085G>C (p.Val2029Leu) c.5443G>C (p.Val1815Leu) c.2953G>C (p.Val985Leu) n.6868G>C | |
10 | g.71793358G>T | CA377154982 | CDH23 | c.6430G>T (p.Val2144Leu) c.6445G>T (p.Val2149Leu) c.6625G>T (p.Val2209Leu) c.6559G>T (p.Val2187Leu) c.6622G>T (p.Val2208Leu) c.6619G>T (p.Val2207Leu) c.6565G>T (p.Val2189Leu) c.6578-43G>T (n.6578-43G>T) c.6490G>T (p.Val2164Leu) c.6085G>T (p.Val2029Leu) c.5443G>T (p.Val1815Leu) c.2953G>T (p.Val985Leu) n.6868G>T | |
10 | g.71793359T>A | CA377154986 | CDH23 | c.6431T>A (p.Val2144Glu) c.6446T>A (p.Val2149Glu) c.6626T>A (p.Val2209Glu) c.6560T>A (p.Val2187Glu) c.6623T>A (p.Val2208Glu) c.6620T>A (p.Val2207Glu) c.6566T>A (p.Val2189Glu) c.6578-42T>A (n.6578-42T>A) c.6491T>A (p.Val2164Glu) c.6086T>A (p.Val2029Glu) c.5444T>A (p.Val1815Glu) c.2954T>A (p.Val985Glu) n.6869T>A | |
10 | g.71793359T>C | CA377154988 | CDH23 | c.6431T>C (p.Val2144Ala) c.6446T>C (p.Val2149Ala) c.6626T>C (p.Val2209Ala) c.6560T>C (p.Val2187Ala) c.6623T>C (p.Val2208Ala) c.6620T>C (p.Val2207Ala) c.6566T>C (p.Val2189Ala) c.6578-42T>C (n.6578-42T>C) c.6491T>C (p.Val2164Ala) c.6086T>C (p.Val2029Ala) c.5444T>C (p.Val1815Ala) c.2954T>C (p.Val985Ala) n.6869T>C | |
10 | g.71793359T>G | CA377154989 | CDH23 | c.6431T>G (p.Val2144Gly) c.6446T>G (p.Val2149Gly) c.6626T>G (p.Val2209Gly) c.6560T>G (p.Val2187Gly) c.6623T>G (p.Val2208Gly) c.6620T>G (p.Val2207Gly) c.6566T>G (p.Val2189Gly) c.6578-42T>G (n.6578-42T>G) c.6491T>G (p.Val2164Gly) c.6086T>G (p.Val2029Gly) c.5444T>G (p.Val1815Gly) c.2954T>G (p.Val985Gly) n.6869T>G | gnomAD v4 |
10 | g.71793360G>A | CA2568050254 | CDH23 | c.6432G>A (p.Val2144=) c.6447G>A (p.Val2149=) c.6627G>A (p.Val2209=) c.6561G>A (p.Val2187=) c.6624G>A (p.Val2208=) c.6621G>A (p.Val2207=) c.6567G>A (p.Val2189=) c.6578-41G>A (n.6578-41G>A) c.6492G>A (p.Val2164=) c.6087G>A (p.Val2029=) c.5445G>A (p.Val1815=) c.2955G>A (p.Val985=) n.6870G>A | |
10 | g.71793361G>A | CA209466113 | CDH23 | c.6433G>A (p.Val2145Met) c.6448G>A (p.Val2150Met) c.6628G>A (p.Val2210Met) c.6562G>A (p.Val2188Met) c.6625G>A (p.Val2209Met) c.6622G>A (p.Val2208Met) c.6568G>A (p.Val2190Met) c.6578-40G>A (n.6578-40G>A) c.6493G>A (p.Val2165Met) c.6088G>A (p.Val2030Met) c.5446G>A (p.Val1816Met) c.2956G>A (p.Val986Met) n.6871G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793361G>C | CA5546079 | CDH23 | c.6433G>C (p.Val2145Leu) c.6448G>C (p.Val2150Leu) c.6628G>C (p.Val2210Leu) c.6562G>C (p.Val2188Leu) c.6625G>C (p.Val2209Leu) c.6622G>C (p.Val2208Leu) c.6568G>C (p.Val2190Leu) c.6578-40G>C (n.6578-40G>C) c.6493G>C (p.Val2165Leu) c.6088G>C (p.Val2030Leu) c.5446G>C (p.Val1816Leu) c.2956G>C (p.Val986Leu) n.6871G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793361G= | CA1918874311 | CDH23 | c.6433G= (p.Val2145=) c.6448G= (p.Val2150=) c.6628G= (p.Val2210=) c.6562G= (p.Val2188=) c.6625G= (p.Val2209=) c.6622G= (p.Val2208=) c.6568G= (p.Val2190=) c.6578-40G= (n.6578-40G=) c.6493G= (p.Val2165=) c.6088G= (p.Val2030=) c.5446G= (p.Val1816=) c.2956G= (p.Val986=) n.6871G= | |
10 | g.71793361G>T | CA377154991 | CDH23 | c.6433G>T (p.Val2145Leu) c.6448G>T (p.Val2150Leu) c.6628G>T (p.Val2210Leu) c.6562G>T (p.Val2188Leu) c.6625G>T (p.Val2209Leu) c.6622G>T (p.Val2208Leu) c.6568G>T (p.Val2190Leu) c.6578-40G>T (n.6578-40G>T) c.6493G>T (p.Val2165Leu) c.6088G>T (p.Val2030Leu) c.5446G>T (p.Val1816Leu) c.2956G>T (p.Val986Leu) n.6871G>T | |
10 | g.71793361_71793390delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC | CA1918874313 | CDH23 | c.6433_6462delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2145=) c.6448_6477delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2150=) c.6628_6657delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2210=) c.6562_6591delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2188=) c.6625_6654delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2209=) c.6622_6651delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2208=) c.6568_6597delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2190=) c.6578-40_6578-11delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (n.6578-40_6578-11delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC) c.6493_6522delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2165=) c.6088_6117delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2030=) c.5446_5475delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val1816=) c.2956_2985delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val986=) n.6871_6900delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC | |
10 | g.71793362T>A | CA377154993 | CDH23 | c.6434T>A (p.Val2145Glu) c.6449T>A (p.Val2150Glu) c.6629T>A (p.Val2210Glu) c.6563T>A (p.Val2188Glu) c.6626T>A (p.Val2209Glu) c.6623T>A (p.Val2208Glu) c.6569T>A (p.Val2190Glu) c.6578-39T>A (n.6578-39T>A) c.6494T>A (p.Val2165Glu) c.6089T>A (p.Val2030Glu) c.5447T>A (p.Val1816Glu) c.2957T>A (p.Val986Glu) n.6872T>A | dbSNP |
10 | g.71793362T>C | CA377155001 | CDH23 | c.6434T>C (p.Val2145Ala) c.6449T>C (p.Val2150Ala) c.6629T>C (p.Val2210Ala) c.6563T>C (p.Val2188Ala) c.6626T>C (p.Val2209Ala) c.6623T>C (p.Val2208Ala) c.6569T>C (p.Val2190Ala) c.6578-39T>C (n.6578-39T>C) c.6494T>C (p.Val2165Ala) c.6089T>C (p.Val2030Ala) c.5447T>C (p.Val1816Ala) c.2957T>C (p.Val986Ala) n.6872T>C | |
10 | g.71793362T>G | CA209466144 | CDH23 | c.6434T>G (p.Val2145Gly) c.6449T>G (p.Val2150Gly) c.6629T>G (p.Val2210Gly) c.6563T>G (p.Val2188Gly) c.6626T>G (p.Val2209Gly) c.6623T>G (p.Val2208Gly) c.6569T>G (p.Val2190Gly) c.6578-39T>G (n.6578-39T>G) c.6494T>G (p.Val2165Gly) c.6089T>G (p.Val2030Gly) c.5447T>G (p.Val1816Gly) c.2957T>G (p.Val986Gly) n.6872T>G | dbSNP gnomAD v4 |
10 | g.71793362T= | CA1918874317 | CDH23 | c.6434T= (p.Val2145=) c.6449T= (p.Val2150=) c.6629T= (p.Val2210=) c.6563T= (p.Val2188=) c.6626T= (p.Val2209=) c.6623T= (p.Val2208=) c.6569T= (p.Val2190=) c.6578-39T= (n.6578-39T=) c.6494T= (p.Val2165=) c.6089T= (p.Val2030=) c.5447T= (p.Val1816=) c.2957T= (p.Val986=) n.6872T= | |
10 | g.71793363_71793391del | CA916083139 | CDH23 | c.6435_6463del (p.Ala2146GlyfsTer11) c.6450_6478del (p.Ala2151GlyfsTer11) c.6630_6658del (p.Ala2211GlyfsTer11) c.6564_6592del (p.Ala2189GlyfsTer11) c.6627_6655del (p.Ala2210GlyfsTer11) c.6624_6652del (p.Ala2209GlyfsTer11) c.6570_6598del (p.Ala2191GlyfsTer11) c.6578-38_6578-10del (n.6578-38_6578-10del) c.6495_6523del (p.Ala2166GlyfsTer11) c.6090_6118del (p.Ala2031GlyfsTer11) c.5448_5476del (p.Ala1817GlyfsTer11) c.2958_2986del (p.Ala987GlyfsTer11) n.6873_6901del | ClinVar dbSNP |
10 | g.71793363G>A | CA594705922 | CDH23 | c.6435G>A (p.Val2145=) c.6450G>A (p.Val2150=) c.6630G>A (p.Val2210=) c.6564G>A (p.Val2188=) c.6627G>A (p.Val2209=) c.6624G>A (p.Val2208=) c.6570G>A (p.Val2190=) c.6578-38G>A (n.6578-38G>A) c.6495G>A (p.Val2165=) c.6090G>A (p.Val2030=) c.5448G>A (p.Val1816=) c.2958G>A (p.Val986=) n.6873G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793363G= | CA1918874319 | CDH23 | c.6435G= (p.Val2145=) c.6450G= (p.Val2150=) c.6630G= (p.Val2210=) c.6564G= (p.Val2188=) c.6627G= (p.Val2209=) c.6624G= (p.Val2208=) c.6570G= (p.Val2190=) c.6578-38G= (n.6578-38G=) c.6495G= (p.Val2165=) c.6090G= (p.Val2030=) c.5448G= (p.Val1816=) c.2958G= (p.Val986=) n.6873G= | |
10 | g.71793364G>A | CA377155003 | CDH23 | c.6436G>A (p.Ala2146Thr) c.6451G>A (p.Ala2151Thr) c.6631G>A (p.Ala2211Thr) c.6565G>A (p.Ala2189Thr) c.6628G>A (p.Ala2210Thr) c.6625G>A (p.Ala2209Thr) c.6571G>A (p.Ala2191Thr) c.6578-37G>A (n.6578-37G>A) c.6496G>A (p.Ala2166Thr) c.6091G>A (p.Ala2031Thr) c.5449G>A (p.Ala1817Thr) c.2959G>A (p.Ala987Thr) n.6874G>A | |
10 | g.71793364G>C | CA377155006 | CDH23 | c.6436G>C (p.Ala2146Pro) c.6451G>C (p.Ala2151Pro) c.6631G>C (p.Ala2211Pro) c.6565G>C (p.Ala2189Pro) c.6628G>C (p.Ala2210Pro) c.6625G>C (p.Ala2209Pro) c.6571G>C (p.Ala2191Pro) c.6578-37G>C (n.6578-37G>C) c.6496G>C (p.Ala2166Pro) c.6091G>C (p.Ala2031Pro) c.5449G>C (p.Ala1817Pro) c.2959G>C (p.Ala987Pro) n.6874G>C | |
10 | g.71793364G>T | CA377155008 | CDH23 | c.6436G>T (p.Ala2146Ser) c.6451G>T (p.Ala2151Ser) c.6631G>T (p.Ala2211Ser) c.6565G>T (p.Ala2189Ser) c.6628G>T (p.Ala2210Ser) c.6625G>T (p.Ala2209Ser) c.6571G>T (p.Ala2191Ser) c.6578-37G>T (n.6578-37G>T) c.6496G>T (p.Ala2166Ser) c.6091G>T (p.Ala2031Ser) c.5449G>T (p.Ala1817Ser) c.2959G>T (p.Ala987Ser) n.6874G>T | |
10 | g.71793365C>A | CA377155020 | CDH23 | c.6437C>A (p.Ala2146Asp) c.6452C>A (p.Ala2151Asp) c.6632C>A (p.Ala2211Asp) c.6566C>A (p.Ala2189Asp) c.6629C>A (p.Ala2210Asp) c.6626C>A (p.Ala2209Asp) c.6572C>A (p.Ala2191Asp) c.6578-36C>A (n.6578-36C>A) c.6497C>A (p.Ala2166Asp) c.6092C>A (p.Ala2031Asp) c.5450C>A (p.Ala1817Asp) c.2960C>A (p.Ala987Asp) n.6875C>A | |
10 | g.71793365C>G | CA377155018 | CDH23 | c.6437C>G (p.Ala2146Gly) c.6452C>G (p.Ala2151Gly) c.6632C>G (p.Ala2211Gly) c.6566C>G (p.Ala2189Gly) c.6629C>G (p.Ala2210Gly) c.6626C>G (p.Ala2209Gly) c.6572C>G (p.Ala2191Gly) c.6578-36C>G (n.6578-36C>G) c.6497C>G (p.Ala2166Gly) c.6092C>G (p.Ala2031Gly) c.5450C>G (p.Ala1817Gly) c.2960C>G (p.Ala987Gly) n.6875C>G | |
10 | g.71793365C>T | CA377155017 | CDH23 | c.6437C>T (p.Ala2146Val) c.6452C>T (p.Ala2151Val) c.6632C>T (p.Ala2211Val) c.6566C>T (p.Ala2189Val) c.6629C>T (p.Ala2210Val) c.6626C>T (p.Ala2209Val) c.6572C>T (p.Ala2191Val) c.6578-36C>T (n.6578-36C>T) c.6497C>T (p.Ala2166Val) c.6092C>T (p.Ala2031Val) c.5450C>T (p.Ala1817Val) c.2960C>T (p.Ala987Val) n.6875C>T | dbSNP |
10 | g.71793366C>T | CA2536611093 | CDH23 | c.6438C>T (p.Ala2146=) c.6453C>T (p.Ala2151=) c.6633C>T (p.Ala2211=) c.6567C>T (p.Ala2189=) c.6630C>T (p.Ala2210=) c.6627C>T (p.Ala2209=) c.6573C>T (p.Ala2191=) c.6578-35C>T (n.6578-35C>T) c.6498C>T (p.Ala2166=) c.6093C>T (p.Ala2031=) c.5451C>T (p.Ala1817=) c.2961C>T (p.Ala987=) n.6876C>T | dbSNP |
10 | g.71793367A= | CA1918874323 | CDH23 | c.6439A= (p.Thr2147=) c.6454A= (p.Thr2152=) c.6634A= (p.Thr2212=) c.6568A= (p.Thr2190=) c.6631A= (p.Thr2211=) c.6628A= (p.Thr2210=) c.6574A= (p.Thr2192=) c.6578-34A= (n.6578-34A=) c.6499A= (p.Thr2167=) c.6094A= (p.Thr2032=) c.5452A= (p.Thr1818=) c.2962A= (p.Thr988=) n.6877A= | |
10 | g.71793367A>C | CA377155022 | CDH23 | c.6439A>C (p.Thr2147Pro) c.6454A>C (p.Thr2152Pro) c.6634A>C (p.Thr2212Pro) c.6568A>C (p.Thr2190Pro) c.6631A>C (p.Thr2211Pro) c.6628A>C (p.Thr2210Pro) c.6574A>C (p.Thr2192Pro) c.6578-34A>C (n.6578-34A>C) c.6499A>C (p.Thr2167Pro) c.6094A>C (p.Thr2032Pro) c.5452A>C (p.Thr1818Pro) c.2962A>C (p.Thr988Pro) n.6877A>C | dbSNP |
10 | g.71793367A>G | CA5546080 | CDH23 | c.6439A>G (p.Thr2147Ala) c.6454A>G (p.Thr2152Ala) c.6634A>G (p.Thr2212Ala) c.6568A>G (p.Thr2190Ala) c.6631A>G (p.Thr2211Ala) c.6628A>G (p.Thr2210Ala) c.6574A>G (p.Thr2192Ala) c.6578-34A>G (n.6578-34A>G) c.6499A>G (p.Thr2167Ala) c.6094A>G (p.Thr2032Ala) c.5452A>G (p.Thr1818Ala) c.2962A>G (p.Thr988Ala) n.6877A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793367A>T | CA377155023 | CDH23 | c.6439A>T (p.Thr2147Ser) c.6454A>T (p.Thr2152Ser) c.6634A>T (p.Thr2212Ser) c.6568A>T (p.Thr2190Ser) c.6631A>T (p.Thr2211Ser) c.6628A>T (p.Thr2210Ser) c.6574A>T (p.Thr2192Ser) c.6578-34A>T (n.6578-34A>T) c.6499A>T (p.Thr2167Ser) c.6094A>T (p.Thr2032Ser) c.5452A>T (p.Thr1818Ser) c.2962A>T (p.Thr988Ser) n.6877A>T | |
10 | g.71793368C>A | CA5546081 | CDH23 | c.6440C>A (p.Thr2147Asn) c.6455C>A (p.Thr2152Asn) c.6635C>A (p.Thr2212Asn) c.6569C>A (p.Thr2190Asn) c.6632C>A (p.Thr2211Asn) c.6629C>A (p.Thr2210Asn) c.6575C>A (p.Thr2192Asn) c.6578-33C>A (n.6578-33C>A) c.6500C>A (p.Thr2167Asn) c.6095C>A (p.Thr2032Asn) c.5453C>A (p.Thr1818Asn) c.2963C>A (p.Thr988Asn) n.6878C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793368C= | CA1918874329 | CDH23 | c.6440C= (p.Thr2147=) c.6455C= (p.Thr2152=) c.6635C= (p.Thr2212=) c.6569C= (p.Thr2190=) c.6632C= (p.Thr2211=) c.6629C= (p.Thr2210=) c.6575C= (p.Thr2192=) c.6578-33C= (n.6578-33C=) c.6500C= (p.Thr2167=) c.6095C= (p.Thr2032=) c.5453C= (p.Thr1818=) c.2963C= (p.Thr988=) n.6878C= | |
10 | g.71793368C>G | CA377155027 | CDH23 | c.6440C>G (p.Thr2147Ser) c.6455C>G (p.Thr2152Ser) c.6635C>G (p.Thr2212Ser) c.6569C>G (p.Thr2190Ser) c.6632C>G (p.Thr2211Ser) c.6629C>G (p.Thr2210Ser) c.6575C>G (p.Thr2192Ser) c.6578-33C>G (n.6578-33C>G) c.6500C>G (p.Thr2167Ser) c.6095C>G (p.Thr2032Ser) c.5453C>G (p.Thr1818Ser) c.2963C>G (p.Thr988Ser) n.6878C>G | |
10 | g.71793368C>T | CA5546082 | CDH23 | c.6440C>T (p.Thr2147Ile) c.6455C>T (p.Thr2152Ile) c.6635C>T (p.Thr2212Ile) c.6569C>T (p.Thr2190Ile) c.6632C>T (p.Thr2211Ile) c.6629C>T (p.Thr2210Ile) c.6575C>T (p.Thr2192Ile) c.6578-33C>T (n.6578-33C>T) c.6500C>T (p.Thr2167Ile) c.6095C>T (p.Thr2032Ile) c.5453C>T (p.Thr1818Ile) c.2963C>T (p.Thr988Ile) n.6878C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793369C= | CA1918874331 | CDH23 | c.6441C= (p.Thr2147=) c.6456C= (p.Thr2152=) c.6636C= (p.Thr2212=) c.6570C= (p.Thr2190=) c.6633C= (p.Thr2211=) c.6630C= (p.Thr2210=) c.6576C= (p.Thr2192=) c.6578-32C= (n.6578-32C=) c.6501C= (p.Thr2167=) c.6096C= (p.Thr2032=) c.5454C= (p.Thr1818=) c.2964C= (p.Thr988=) n.6879C= | |
10 | g.71793369C>G | CA2573145266 | CDH23 | c.6441C>G (p.Thr2147=) c.6456C>G (p.Thr2152=) c.6636C>G (p.Thr2212=) c.6570C>G (p.Thr2190=) c.6633C>G (p.Thr2211=) c.6630C>G (p.Thr2210=) c.6576C>G (p.Thr2192=) c.6578-32C>G (n.6578-32C>G) c.6501C>G (p.Thr2167=) c.6096C>G (p.Thr2032=) c.5454C>G (p.Thr1818=) c.2964C>G (p.Thr988=) n.6879C>G | ClinVar dbSNP |
10 | g.71793369C>T | CA5546083 | CDH23 | c.6441C>T (p.Thr2147=) c.6456C>T (p.Thr2152=) c.6636C>T (p.Thr2212=) c.6570C>T (p.Thr2190=) c.6633C>T (p.Thr2211=) c.6630C>T (p.Thr2210=) c.6576C>T (p.Thr2192=) c.6578-32C>T (n.6578-32C>T) c.6501C>T (p.Thr2167=) c.6096C>T (p.Thr2032=) c.5454C>T (p.Thr1818=) c.2964C>T (p.Thr988=) n.6879C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793370G>A | CA253332 | CDH23 | c.6442G>A (p.Asp2148Asn) c.6457G>A (p.Asp2153Asn) c.6637G>A (p.Asp2213Asn) c.6571G>A (p.Asp2191Asn) c.6634G>A (p.Asp2212Asn) c.6631G>A (p.Asp2211Asn) c.6577G>A (p.Asp2193Asn) c.6578-31G>A (n.6578-31G>A) c.6502G>A (p.Asp2168Asn) c.6097G>A (p.Asp2033Asn) c.5455G>A (p.Asp1819Asn) c.2965G>A (p.Asp989Asn) n.6880G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793370G>C | CA377155032 | CDH23 | c.6442G>C (p.Asp2148His) c.6457G>C (p.Asp2153His) c.6637G>C (p.Asp2213His) c.6571G>C (p.Asp2191His) c.6634G>C (p.Asp2212His) c.6631G>C (p.Asp2211His) c.6577G>C (p.Asp2193His) c.6578-31G>C (n.6578-31G>C) c.6502G>C (p.Asp2168His) c.6097G>C (p.Asp2033His) c.5455G>C (p.Asp1819His) c.2965G>C (p.Asp989His) n.6880G>C | |
10 | g.71793370G= | CA1918874336 | CDH23 | c.6442G= (p.Asp2148=) c.6457G= (p.Asp2153=) c.6637G= (p.Asp2213=) c.6571G= (p.Asp2191=) c.6634G= (p.Asp2212=) c.6631G= (p.Asp2211=) c.6577G= (p.Asp2193=) c.6578-31G= (n.6578-31G=) c.6502G= (p.Asp2168=) c.6097G= (p.Asp2033=) c.5455G= (p.Asp1819=) c.2965G= (p.Asp989=) n.6880G= | |
10 | g.71793370G>T | CA377155034 | CDH23 | c.6442G>T (p.Asp2148Tyr) c.6457G>T (p.Asp2153Tyr) c.6637G>T (p.Asp2213Tyr) c.6571G>T (p.Asp2191Tyr) c.6634G>T (p.Asp2212Tyr) c.6631G>T (p.Asp2211Tyr) c.6577G>T (p.Asp2193Tyr) c.6578-31G>T (n.6578-31G>T) c.6502G>T (p.Asp2168Tyr) c.6097G>T (p.Asp2033Tyr) c.5455G>T (p.Asp1819Tyr) c.2965G>T (p.Asp989Tyr) n.6880G>T | |
10 | g.71793371A= | CA1918874342 | CDH23 | c.6443A= (p.Asp2148=) c.6458A= (p.Asp2153=) c.6638A= (p.Asp2213=) c.6572A= (p.Asp2191=) c.6635A= (p.Asp2212=) c.6632A= (p.Asp2211=) c.6578A= (p.Asp2193=) c.6578-30A= (n.6578-30A=) c.6503A= (p.Asp2168=) c.6098A= (p.Asp2033=) c.5456A= (p.Asp1819=) c.2966A= (p.Asp989=) n.6881A= | |
10 | g.71793371A>C | CA377155035 | CDH23 | c.6443A>C (p.Asp2148Ala) c.6458A>C (p.Asp2153Ala) c.6638A>C (p.Asp2213Ala) c.6572A>C (p.Asp2191Ala) c.6635A>C (p.Asp2212Ala) c.6632A>C (p.Asp2211Ala) c.6578A>C (p.Asp2193Ala) c.6578-30A>C (n.6578-30A>C) c.6503A>C (p.Asp2168Ala) c.6098A>C (p.Asp2033Ala) c.5456A>C (p.Asp1819Ala) c.2966A>C (p.Asp989Ala) n.6881A>C | |
10 | g.71793371A>G | CA5546084 | CDH23 | c.6443A>G (p.Asp2148Gly) c.6458A>G (p.Asp2153Gly) c.6638A>G (p.Asp2213Gly) c.6572A>G (p.Asp2191Gly) c.6635A>G (p.Asp2212Gly) c.6632A>G (p.Asp2211Gly) c.6578A>G (p.Asp2193Gly) c.6578-30A>G (n.6578-30A>G) c.6503A>G (p.Asp2168Gly) c.6098A>G (p.Asp2033Gly) c.5456A>G (p.Asp1819Gly) c.2966A>G (p.Asp989Gly) n.6881A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793371A>T | CA377155037 | CDH23 | c.6443A>T (p.Asp2148Val) c.6458A>T (p.Asp2153Val) c.6638A>T (p.Asp2213Val) c.6572A>T (p.Asp2191Val) c.6635A>T (p.Asp2212Val) c.6632A>T (p.Asp2211Val) c.6578A>T (p.Asp2193Val) c.6578-30A>T (n.6578-30A>T) c.6503A>T (p.Asp2168Val) c.6098A>T (p.Asp2033Val) c.5456A>T (p.Asp1819Val) c.2966A>T (p.Asp989Val) n.6881A>T | dbSNP |
10 | g.71793372C>A | CA377155039 | CDH23 | c.6444C>A (p.Asp2148Glu) c.6459C>A (p.Asp2153Glu) c.6639C>A (p.Asp2213Glu) c.6573C>A (p.Asp2191Glu) c.6636C>A (p.Asp2212Glu) c.6633C>A (p.Asp2211Glu) c.6579C>A (p.Asp2193Glu) c.6578-29C>A (n.6578-29C>A) c.6504C>A (p.Asp2168Glu) c.6099C>A (p.Asp2033Glu) c.5457C>A (p.Asp1819Glu) c.2967C>A (p.Asp989Glu) n.6882C>A | |
10 | g.71793372C>G | CA377155040 | CDH23 | c.6444C>G (p.Asp2148Glu) c.6459C>G (p.Asp2153Glu) c.6639C>G (p.Asp2213Glu) c.6573C>G (p.Asp2191Glu) c.6636C>G (p.Asp2212Glu) c.6633C>G (p.Asp2211Glu) c.6579C>G (p.Asp2193Glu) c.6578-29C>G (n.6578-29C>G) c.6504C>G (p.Asp2168Glu) c.6099C>G (p.Asp2033Glu) c.5457C>G (p.Asp1819Glu) c.2967C>G (p.Asp989Glu) n.6882C>G | |
10 | g.71793373C>A | CA668109027 | CDH23 | c.6445C>A (p.Arg2149=) c.6460C>A (p.Arg2154=) c.6640C>A (p.Arg2214=) c.6574C>A (p.Arg2192=) c.6637C>A (p.Arg2213=) c.6634C>A (p.Arg2212=) c.6580C>A (p.Arg2194=) c.6578-28C>A (n.6578-28C>A) c.6505C>A (p.Arg2169=) c.6100C>A (p.Arg2034=) c.5458C>A (p.Arg1820=) c.2968C>A (p.Arg990=) n.6883C>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793373C= | CA1918874347 | CDH23 | c.6445C= (p.Arg2149=) c.6460C= (p.Arg2154=) c.6640C= (p.Arg2214=) c.6574C= (p.Arg2192=) c.6637C= (p.Arg2213=) c.6634C= (p.Arg2212=) c.6580C= (p.Arg2194=) c.6578-28C= (n.6578-28C=) c.6505C= (p.Arg2169=) c.6100C= (p.Arg2034=) c.5458C= (p.Arg1820=) c.2968C= (p.Arg990=) n.6883C= | |
10 | g.71793373C>G | CA377155043 | CDH23 | c.6445C>G (p.Arg2149Gly) c.6460C>G (p.Arg2154Gly) c.6640C>G (p.Arg2214Gly) c.6574C>G (p.Arg2192Gly) c.6637C>G (p.Arg2213Gly) c.6634C>G (p.Arg2212Gly) c.6580C>G (p.Arg2194Gly) c.6578-28C>G (n.6578-28C>G) c.6505C>G (p.Arg2169Gly) c.6100C>G (p.Arg2034Gly) c.5458C>G (p.Arg1820Gly) c.2968C>G (p.Arg990Gly) n.6883C>G | ClinVar |
10 | g.71793373C>T | CA209466174 | CDH23 | c.6445C>T (p.Arg2149Trp) c.6460C>T (p.Arg2154Trp) c.6640C>T (p.Arg2214Trp) c.6574C>T (p.Arg2192Trp) c.6637C>T (p.Arg2213Trp) c.6634C>T (p.Arg2212Trp) c.6580C>T (p.Arg2194Trp) c.6578-28C>T (n.6578-28C>T) c.6505C>T (p.Arg2169Trp) c.6100C>T (p.Arg2034Trp) c.5458C>T (p.Arg1820Trp) c.2968C>T (p.Arg990Trp) n.6883C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793373_71793374delinsCG | CA1918874351 | CDH23 | c.6445_6446delinsCG (p.Arg2149=) c.6460_6461delinsCG (p.Arg2154=) c.6640_6641delinsCG (p.Arg2214=) c.6574_6575delinsCG (p.Arg2192=) c.6637_6638delinsCG (p.Arg2213=) c.6634_6635delinsCG (p.Arg2212=) c.6580_6581delinsCG (p.Arg2194=) c.6578-28_6578-27delinsCG (n.6578-28_6578-27delinsCG) c.6505_6506delinsCG (p.Arg2169=) c.6100_6101delinsCG (p.Arg2034=) c.5458_5459delinsCG (p.Arg1820=) c.2968_2969delinsCG (p.Arg990=) n.6883_6884delinsCG | |
10 | g.71793374G>A | CA5546086 | CDH23 | c.6446G>A (p.Arg2149Gln) c.6461G>A (p.Arg2154Gln) c.6641G>A (p.Arg2214Gln) c.6575G>A (p.Arg2192Gln) c.6638G>A (p.Arg2213Gln) c.6635G>A (p.Arg2212Gln) c.6581G>A (p.Arg2194Gln) c.6578-27G>A (n.6578-27G>A) c.6506G>A (p.Arg2169Gln) c.6101G>A (p.Arg2034Gln) c.5459G>A (p.Arg1820Gln) c.2969G>A (p.Arg990Gln) n.6884G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793374G>C | CA5546085 | CDH23 | c.6446G>C (p.Arg2149Pro) c.6461G>C (p.Arg2154Pro) c.6641G>C (p.Arg2214Pro) c.6575G>C (p.Arg2192Pro) c.6638G>C (p.Arg2213Pro) c.6635G>C (p.Arg2212Pro) c.6581G>C (p.Arg2194Pro) c.6578-27G>C (n.6578-27G>C) c.6506G>C (p.Arg2169Pro) c.6101G>C (p.Arg2034Pro) c.5459G>C (p.Arg1820Pro) c.2969G>C (p.Arg990Pro) n.6884G>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.71793374G= | CA1918874359 | CDH23 | c.6446G= (p.Arg2149=) c.6461G= (p.Arg2154=) c.6641G= (p.Arg2214=) c.6575G= (p.Arg2192=) c.6638G= (p.Arg2213=) c.6635G= (p.Arg2212=) c.6581G= (p.Arg2194=) c.6578-27G= (n.6578-27G=) c.6506G= (p.Arg2169=) c.6101G= (p.Arg2034=) c.5459G= (p.Arg1820=) c.2969G= (p.Arg990=) n.6884G= | |
10 | g.71793374G>T | CA377155051 | CDH23 | c.6446G>T (p.Arg2149Leu) c.6461G>T (p.Arg2154Leu) c.6641G>T (p.Arg2214Leu) c.6575G>T (p.Arg2192Leu) c.6638G>T (p.Arg2213Leu) c.6635G>T (p.Arg2212Leu) c.6581G>T (p.Arg2194Leu) c.6578-27G>T (n.6578-27G>T) c.6506G>T (p.Arg2169Leu) c.6101G>T (p.Arg2034Leu) c.5459G>T (p.Arg1820Leu) c.2969G>T (p.Arg990Leu) n.6884G>T | dbSNP gnomAD v4 COSMIC |
10 | g.71793377del | CA913189662 | CDH23 | c.6449del (p.Gly2150AlafsTer14) c.6464del (p.Gly2155AlafsTer14) c.6644del (p.Gly2215AlafsTer14) c.6578del (p.Gly2193AlafsTer14) c.6641del (p.Gly2214AlafsTer14) c.6638del (p.Gly2213AlafsTer14) c.6584del (p.Gly2195AlafsTer14) c.6578-24del (n.6578-24del) c.6509del (p.Gly2170AlafsTer14) c.6104del (p.Gly2035AlafsTer14) c.5462del (p.Gly1821AlafsTer14) c.2972del (p.Gly991AlafsTer14) n.6887del | ClinVar dbSNP |
10 | g.71793375G>A | CA2499220351 | CDH23 | c.6447G>A (p.Arg2149=) c.6462G>A (p.Arg2154=) c.6642G>A (p.Arg2214=) c.6576G>A (p.Arg2192=) c.6639G>A (p.Arg2213=) c.6636G>A (p.Arg2212=) c.6582G>A (p.Arg2194=) c.6578-26G>A (n.6578-26G>A) c.6507G>A (p.Arg2169=) c.6102G>A (p.Arg2034=) c.5460G>A (p.Arg1820=) c.2970G>A (p.Arg990=) n.6885G>A | ClinVar dbSNP gnomAD v4 |
10 | g.71793375G>C | CA915945957 | CDH23 | c.6447G>C (p.Arg2149=) c.6462G>C (p.Arg2154=) c.6642G>C (p.Arg2214=) c.6576G>C (p.Arg2192=) c.6639G>C (p.Arg2213=) c.6636G>C (p.Arg2212=) c.6582G>C (p.Arg2194=) c.6578-26G>C (n.6578-26G>C) c.6507G>C (p.Arg2169=) c.6102G>C (p.Arg2034=) c.5460G>C (p.Arg1820=) c.2970G>C (p.Arg990=) n.6885G>C | ClinVar dbSNP gnomAD v4 |
10 | g.71793375G= | CA1918874365 | CDH23 | c.6447G= (p.Arg2149=) c.6462G= (p.Arg2154=) c.6642G= (p.Arg2214=) c.6576G= (p.Arg2192=) c.6639G= (p.Arg2213=) c.6636G= (p.Arg2212=) c.6582G= (p.Arg2194=) c.6578-26G= (n.6578-26G=) c.6507G= (p.Arg2169=) c.6102G= (p.Arg2034=) c.5460G= (p.Arg1820=) c.2970G= (p.Arg990=) n.6885G= | |
10 | g.71793376G>A | CA377155053 | CDH23 | c.6448G>A (p.Gly2150Ser) c.6463G>A (p.Gly2155Ser) c.6643G>A (p.Gly2215Ser) c.6577G>A (p.Gly2193Ser) c.6640G>A (p.Gly2214Ser) c.6637G>A (p.Gly2213Ser) c.6583G>A (p.Gly2195Ser) c.6578-25G>A (n.6578-25G>A) c.6508G>A (p.Gly2170Ser) c.6103G>A (p.Gly2035Ser) c.5461G>A (p.Gly1821Ser) c.2971G>A (p.Gly991Ser) n.6886G>A | gnomAD v4 |
10 | g.71793376G>C | CA377155054 | CDH23 | c.6448G>C (p.Gly2150Arg) c.6463G>C (p.Gly2155Arg) c.6643G>C (p.Gly2215Arg) c.6577G>C (p.Gly2193Arg) c.6640G>C (p.Gly2214Arg) c.6637G>C (p.Gly2213Arg) c.6583G>C (p.Gly2195Arg) c.6578-25G>C (n.6578-25G>C) c.6508G>C (p.Gly2170Arg) c.6103G>C (p.Gly2035Arg) c.5461G>C (p.Gly1821Arg) c.2971G>C (p.Gly991Arg) n.6886G>C | gnomAD v4 |
10 | g.71793376G= | CA1918874368 | CDH23 | c.6448G= (p.Gly2150=) c.6463G= (p.Gly2155=) c.6643G= (p.Gly2215=) c.6577G= (p.Gly2193=) c.6640G= (p.Gly2214=) c.6637G= (p.Gly2213=) c.6583G= (p.Gly2195=) c.6578-25G= (n.6578-25G=) c.6508G= (p.Gly2170=) c.6103G= (p.Gly2035=) c.5461G= (p.Gly1821=) c.2971G= (p.Gly991=) n.6886G= | |
10 | g.71793376G>T | CA377155055 | CDH23 | c.6448G>T (p.Gly2150Cys) c.6463G>T (p.Gly2155Cys) c.6643G>T (p.Gly2215Cys) c.6577G>T (p.Gly2193Cys) c.6640G>T (p.Gly2214Cys) c.6637G>T (p.Gly2213Cys) c.6583G>T (p.Gly2195Cys) c.6578-25G>T (n.6578-25G>T) c.6508G>T (p.Gly2170Cys) c.6103G>T (p.Gly2035Cys) c.5461G>T (p.Gly1821Cys) c.2971G>T (p.Gly991Cys) n.6886G>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793377G>A | CA377155056 | CDH23 | c.6449G>A (p.Gly2150Asp) c.6464G>A (p.Gly2155Asp) c.6644G>A (p.Gly2215Asp) c.6578G>A (p.Gly2193Asp) c.6641G>A (p.Gly2214Asp) c.6638G>A (p.Gly2213Asp) c.6584G>A (p.Gly2195Asp) c.6578-24G>A (n.6578-24G>A) c.6509G>A (p.Gly2170Asp) c.6104G>A (p.Gly2035Asp) c.5462G>A (p.Gly1821Asp) c.2972G>A (p.Gly991Asp) n.6887G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793377G>C | CA377155057 | CDH23 | c.6449G>C (p.Gly2150Ala) c.6464G>C (p.Gly2155Ala) c.6644G>C (p.Gly2215Ala) c.6578G>C (p.Gly2193Ala) c.6641G>C (p.Gly2214Ala) c.6638G>C (p.Gly2213Ala) c.6584G>C (p.Gly2195Ala) c.6578-24G>C (n.6578-24G>C) c.6509G>C (p.Gly2170Ala) c.6104G>C (p.Gly2035Ala) c.5462G>C (p.Gly1821Ala) c.2972G>C (p.Gly991Ala) n.6887G>C | |
10 | g.71793377G= | CA1918874372 | CDH23 | c.6449G= (p.Gly2150=) c.6464G= (p.Gly2155=) c.6644G= (p.Gly2215=) c.6578G= (p.Gly2193=) c.6641G= (p.Gly2214=) c.6638G= (p.Gly2213=) c.6584G= (p.Gly2195=) c.6578-24G= (n.6578-24G=) c.6509G= (p.Gly2170=) c.6104G= (p.Gly2035=) c.5462G= (p.Gly1821=) c.2972G= (p.Gly991=) n.6887G= | |
10 | g.71793377G>T | CA5546087 | CDH23 | c.6449G>T (p.Gly2150Val) c.6464G>T (p.Gly2155Val) c.6644G>T (p.Gly2215Val) c.6578G>T (p.Gly2193Val) c.6641G>T (p.Gly2214Val) c.6638G>T (p.Gly2213Val) c.6584G>T (p.Gly2195Val) c.6578-24G>T (n.6578-24G>T) c.6509G>T (p.Gly2170Val) c.6104G>T (p.Gly2035Val) c.5462G>T (p.Gly1821Val) c.2972G>T (p.Gly991Val) n.6887G>T | dbSNP ExAC gnomAD v2 |
10 | g.71793378C= | CA1918874377 | CDH23 | c.6450C= (p.Gly2150=) c.6465C= (p.Gly2155=) c.6645C= (p.Gly2215=) c.6579C= (p.Gly2193=) c.6642C= (p.Gly2214=) c.6639C= (p.Gly2213=) c.6585C= (p.Gly2195=) c.6578-23C= (n.6578-23C=) c.6510C= (p.Gly2170=) c.6105C= (p.Gly2035=) c.5463C= (p.Gly1821=) c.2973C= (p.Gly991=) n.6888C= | |
10 | g.71793378C>T | CA1918874375 | CDH23 | c.6450C>T (p.Gly2150=) c.6465C>T (p.Gly2155=) c.6645C>T (p.Gly2215=) c.6579C>T (p.Gly2193=) c.6642C>T (p.Gly2214=) c.6639C>T (p.Gly2213=) c.6585C>T (p.Gly2195=) c.6578-23C>T (n.6578-23C>T) c.6510C>T (p.Gly2170=) c.6105C>T (p.Gly2035=) c.5463C>T (p.Gly1821=) c.2973C>T (p.Gly991=) n.6888C>T | ClinVar dbSNP |
10 | g.71793378dup | CA668109043 | CDH23 | c.6450dup (p.Thr2151HisfsTer16) c.6465dup (p.Thr2156HisfsTer16) c.6645dup (p.Thr2216HisfsTer16) c.6579dup (p.Thr2194HisfsTer16) c.6642dup (p.Thr2215HisfsTer16) c.6639dup (p.Thr2214HisfsTer16) c.6585dup (p.Thr2196HisfsTer16) c.6578-23dup (n.6578-23dup) c.6510dup (p.Thr2171HisfsTer16) c.6105dup (p.Thr2036HisfsTer16) c.5463dup (p.Thr1822HisfsTer16) c.2973dup (p.Thr992HisfsTer16) n.6888dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793379A>C | CA377155058 | CDH23 | c.6451A>C (p.Thr2151Pro) c.6466A>C (p.Thr2156Pro) c.6646A>C (p.Thr2216Pro) c.6580A>C (p.Thr2194Pro) c.6643A>C (p.Thr2215Pro) c.6640A>C (p.Thr2214Pro) c.6586A>C (p.Thr2196Pro) c.6578-22A>C (n.6578-22A>C) c.6511A>C (p.Thr2171Pro) c.6106A>C (p.Thr2036Pro) c.5464A>C (p.Thr1822Pro) c.2974A>C (p.Thr992Pro) n.6889A>C | |
10 | g.71793379A>G | CA377155059 | CDH23 | c.6451A>G (p.Thr2151Ala) c.6466A>G (p.Thr2156Ala) c.6646A>G (p.Thr2216Ala) c.6580A>G (p.Thr2194Ala) c.6643A>G (p.Thr2215Ala) c.6640A>G (p.Thr2214Ala) c.6586A>G (p.Thr2196Ala) c.6578-22A>G (n.6578-22A>G) c.6511A>G (p.Thr2171Ala) c.6106A>G (p.Thr2036Ala) c.5464A>G (p.Thr1822Ala) c.2974A>G (p.Thr992Ala) n.6889A>G | |
10 | g.71793379A>T | CA377155060 | CDH23 | c.6451A>T (p.Thr2151Ser) c.6466A>T (p.Thr2156Ser) c.6646A>T (p.Thr2216Ser) c.6580A>T (p.Thr2194Ser) c.6643A>T (p.Thr2215Ser) c.6640A>T (p.Thr2214Ser) c.6586A>T (p.Thr2196Ser) c.6578-22A>T (n.6578-22A>T) c.6511A>T (p.Thr2171Ser) c.6106A>T (p.Thr2036Ser) c.5464A>T (p.Thr1822Ser) c.2974A>T (p.Thr992Ser) n.6889A>T | |
10 | g.71793380C>A | CA377155063 | CDH23 | c.6452C>A (p.Thr2151Asn) c.6467C>A (p.Thr2156Asn) c.6647C>A (p.Thr2216Asn) c.6581C>A (p.Thr2194Asn) c.6644C>A (p.Thr2215Asn) c.6641C>A (p.Thr2214Asn) c.6587C>A (p.Thr2196Asn) c.6578-21C>A (n.6578-21C>A) c.6512C>A (p.Thr2171Asn) c.6107C>A (p.Thr2036Asn) c.5465C>A (p.Thr1822Asn) c.2975C>A (p.Thr992Asn) n.6890C>A | |
10 | g.71793380C>G | CA377155065 | CDH23 | c.6452C>G (p.Thr2151Ser) c.6467C>G (p.Thr2156Ser) c.6647C>G (p.Thr2216Ser) c.6581C>G (p.Thr2194Ser) c.6644C>G (p.Thr2215Ser) c.6641C>G (p.Thr2214Ser) c.6587C>G (p.Thr2196Ser) c.6578-21C>G (n.6578-21C>G) c.6512C>G (p.Thr2171Ser) c.6107C>G (p.Thr2036Ser) c.5465C>G (p.Thr1822Ser) c.2975C>G (p.Thr992Ser) n.6890C>G | |
10 | g.71793380C>T | CA377155061 | CDH23 | c.6452C>T (p.Thr2151Ile) c.6467C>T (p.Thr2156Ile) c.6647C>T (p.Thr2216Ile) c.6581C>T (p.Thr2194Ile) c.6644C>T (p.Thr2215Ile) c.6641C>T (p.Thr2214Ile) c.6587C>T (p.Thr2196Ile) c.6578-21C>T (n.6578-21C>T) c.6512C>T (p.Thr2171Ile) c.6107C>T (p.Thr2036Ile) c.5465C>T (p.Thr1822Ile) c.2975C>T (p.Thr992Ile) n.6890C>T | gnomAD v4 |
10 | g.71793381del | CA2739275743 | CDH23 | c.6453del (p.Val2152PhefsTer12) c.6468del (p.Val2157PhefsTer12) c.6648del (p.Val2217PhefsTer12) c.6582del (p.Val2195PhefsTer12) c.6645del (p.Val2216PhefsTer12) c.6642del (p.Val2215PhefsTer12) c.6588del (p.Val2197PhefsTer12) c.6578-20del (n.6578-20del) c.6513del (p.Val2172PhefsTer12) c.6108del (p.Val2037PhefsTer12) c.5466del (p.Val1823PhefsTer12) c.2976del (p.Val993PhefsTer12) n.6891del | ClinVar |
10 | g.71793381C>A | CA5546088 | CDH23 | c.6453C>A (p.Thr2151=) c.6468C>A (p.Thr2156=) c.6648C>A (p.Thr2216=) c.6582C>A (p.Thr2194=) c.6645C>A (p.Thr2215=) c.6642C>A (p.Thr2214=) c.6588C>A (p.Thr2196=) c.6578-20C>A (n.6578-20C>A) c.6513C>A (p.Thr2171=) c.6108C>A (p.Thr2036=) c.5466C>A (p.Thr1822=) c.2976C>A (p.Thr992=) n.6891C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793381C= | CA1918874386 | CDH23 | c.6453C= (p.Thr2151=) c.6468C= (p.Thr2156=) c.6648C= (p.Thr2216=) c.6582C= (p.Thr2194=) c.6645C= (p.Thr2215=) c.6642C= (p.Thr2214=) c.6588C= (p.Thr2196=) c.6578-20C= (n.6578-20C=) c.6513C= (p.Thr2171=) c.6108C= (p.Thr2036=) c.5466C= (p.Thr1822=) c.2976C= (p.Thr992=) n.6891C= | |
10 | g.71793381C>G | CA2788485483 | CDH23 | c.6453C>G (p.Thr2151=) c.6468C>G (p.Thr2156=) c.6648C>G (p.Thr2216=) c.6582C>G (p.Thr2194=) c.6645C>G (p.Thr2215=) c.6642C>G (p.Thr2214=) c.6588C>G (p.Thr2196=) c.6578-20C>G (n.6578-20C>G) c.6513C>G (p.Thr2171=) c.6108C>G (p.Thr2036=) c.5466C>G (p.Thr1822=) c.2976C>G (p.Thr992=) n.6891C>G | |
10 | g.71793381C>T | CA5546089 | CDH23 | c.6453C>T (p.Thr2151=) c.6468C>T (p.Thr2156=) c.6648C>T (p.Thr2216=) c.6582C>T (p.Thr2194=) c.6645C>T (p.Thr2215=) c.6642C>T (p.Thr2214=) c.6588C>T (p.Thr2196=) c.6578-20C>T (n.6578-20C>T) c.6513C>T (p.Thr2171=) c.6108C>T (p.Thr2036=) c.5466C>T (p.Thr1822=) c.2976C>T (p.Thr992=) n.6891C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793382G>A | CA209466190 | CDH23 | c.6454G>A (p.Val2152Ile) c.6469G>A (p.Val2157Ile) c.6649G>A (p.Val2217Ile) c.6583G>A (p.Val2195Ile) c.6646G>A (p.Val2216Ile) c.6643G>A (p.Val2215Ile) c.6589G>A (p.Val2197Ile) c.6578-19G>A (n.6578-19G>A) c.6514G>A (p.Val2172Ile) c.6109G>A (p.Val2037Ile) c.5467G>A (p.Val1823Ile) c.2977G>A (p.Val993Ile) n.6892G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793382G>C | CA377155070 | CDH23 | c.6454G>C (p.Val2152Leu) c.6469G>C (p.Val2157Leu) c.6649G>C (p.Val2217Leu) c.6583G>C (p.Val2195Leu) c.6646G>C (p.Val2216Leu) c.6643G>C (p.Val2215Leu) c.6589G>C (p.Val2197Leu) c.6578-19G>C (n.6578-19G>C) c.6514G>C (p.Val2172Leu) c.6109G>C (p.Val2037Leu) c.5467G>C (p.Val1823Leu) c.2977G>C (p.Val993Leu) n.6892G>C | |
10 | g.71793382G= | CA1918874394 | CDH23 | c.6454G= (p.Val2152=) c.6469G= (p.Val2157=) c.6649G= (p.Val2217=) c.6583G= (p.Val2195=) c.6646G= (p.Val2216=) c.6643G= (p.Val2215=) c.6589G= (p.Val2197=) c.6578-19G= (n.6578-19G=) c.6514G= (p.Val2172=) c.6109G= (p.Val2037=) c.5467G= (p.Val1823=) c.2977G= (p.Val993=) n.6892G= | |
10 | g.71793382G>T | CA377155072 | CDH23 | c.6454G>T (p.Val2152Phe) c.6469G>T (p.Val2157Phe) c.6649G>T (p.Val2217Phe) c.6583G>T (p.Val2195Phe) c.6646G>T (p.Val2216Phe) c.6643G>T (p.Val2215Phe) c.6589G>T (p.Val2197Phe) c.6578-19G>T (n.6578-19G>T) c.6514G>T (p.Val2172Phe) c.6109G>T (p.Val2037Phe) c.5467G>T (p.Val1823Phe) c.2977G>T (p.Val993Phe) n.6892G>T | |
10 | g.71793383T>A | CA377155074 | CDH23 | c.6455T>A (p.Val2152Asp) c.6470T>A (p.Val2157Asp) c.6650T>A (p.Val2217Asp) c.6584T>A (p.Val2195Asp) c.6647T>A (p.Val2216Asp) c.6644T>A (p.Val2215Asp) c.6590T>A (p.Val2197Asp) c.6578-18T>A (n.6578-18T>A) c.6515T>A (p.Val2172Asp) c.6110T>A (p.Val2037Asp) c.5468T>A (p.Val1823Asp) c.2978T>A (p.Val993Asp) n.6893T>A | |
10 | g.71793383T>C | CA377155075 | CDH23 | c.6455T>C (p.Val2152Ala) c.6470T>C (p.Val2157Ala) c.6650T>C (p.Val2217Ala) c.6584T>C (p.Val2195Ala) c.6647T>C (p.Val2216Ala) c.6644T>C (p.Val2215Ala) c.6590T>C (p.Val2197Ala) c.6578-18T>C (n.6578-18T>C) c.6515T>C (p.Val2172Ala) c.6110T>C (p.Val2037Ala) c.5468T>C (p.Val1823Ala) c.2978T>C (p.Val993Ala) n.6893T>C | |
10 | g.71793383T>G | CA377155077 | CDH23 | c.6455T>G (p.Val2152Gly) c.6470T>G (p.Val2157Gly) c.6650T>G (p.Val2217Gly) c.6584T>G (p.Val2195Gly) c.6647T>G (p.Val2216Gly) c.6644T>G (p.Val2215Gly) c.6590T>G (p.Val2197Gly) c.6578-18T>G (n.6578-18T>G) c.6515T>G (p.Val2172Gly) c.6110T>G (p.Val2037Gly) c.5468T>G (p.Val1823Gly) c.2978T>G (p.Val993Gly) n.6893T>G | gnomAD v4 |
10 | g.71793384T>A | CA2609580680 | CDH23 | c.6456T>A (p.Val2152=) c.6471T>A (p.Val2157=) c.6651T>A (p.Val2217=) c.6585T>A (p.Val2195=) c.6648T>A (p.Val2216=) c.6645T>A (p.Val2215=) c.6591T>A (p.Val2197=) c.6578-17T>A (n.6578-17T>A) c.6516T>A (p.Val2172=) c.6111T>A (p.Val2037=) c.5469T>A (p.Val1823=) c.2979T>A (p.Val993=) n.6894T>A | gnomAD v4 |
10 | g.71793384T>C | CA2504723901 | CDH23 | c.6456T>C (p.Val2152=) c.6471T>C (p.Val2157=) c.6651T>C (p.Val2217=) c.6585T>C (p.Val2195=) c.6648T>C (p.Val2216=) c.6645T>C (p.Val2215=) c.6591T>C (p.Val2197=) c.6578-17T>C (n.6578-17T>C) c.6516T>C (p.Val2172=) c.6111T>C (p.Val2037=) c.5469T>C (p.Val1823=) c.2979T>C (p.Val993=) n.6894T>C | |
10 | g.71793385C>A | CA377155079 | CDH23 | c.6457C>A (p.Pro2153Thr) c.6472C>A (p.Pro2158Thr) c.6652C>A (p.Pro2218Thr) c.6586C>A (p.Pro2196Thr) c.6649C>A (p.Pro2217Thr) c.6646C>A (p.Pro2216Thr) c.6592C>A (p.Pro2198Thr) c.6578-16C>A (n.6578-16C>A) c.6517C>A (p.Pro2173Thr) c.6112C>A (p.Pro2038Thr) c.5470C>A (p.Pro1824Thr) c.2980C>A (p.Pro994Thr) n.6895C>A | |
10 | g.71793385C= | CA1918874399 | CDH23 | c.6457C= (p.Pro2153=) c.6472C= (p.Pro2158=) c.6652C= (p.Pro2218=) c.6586C= (p.Pro2196=) c.6649C= (p.Pro2217=) c.6646C= (p.Pro2216=) c.6592C= (p.Pro2198=) c.6578-16C= (n.6578-16C=) c.6517C= (p.Pro2173=) c.6112C= (p.Pro2038=) c.5470C= (p.Pro1824=) c.2980C= (p.Pro994=) n.6895C= | |
10 | g.71793385C>G | CA377155083 | CDH23 | c.6457C>G (p.Pro2153Ala) c.6472C>G (p.Pro2158Ala) c.6652C>G (p.Pro2218Ala) c.6586C>G (p.Pro2196Ala) c.6649C>G (p.Pro2217Ala) c.6646C>G (p.Pro2216Ala) c.6592C>G (p.Pro2198Ala) c.6578-16C>G (n.6578-16C>G) c.6517C>G (p.Pro2173Ala) c.6112C>G (p.Pro2038Ala) c.5470C>G (p.Pro1824Ala) c.2980C>G (p.Pro994Ala) n.6895C>G | |
10 | g.71793385C>T | CA377155085 | CDH23 | c.6457C>T (p.Pro2153Ser) c.6472C>T (p.Pro2158Ser) c.6652C>T (p.Pro2218Ser) c.6586C>T (p.Pro2196Ser) c.6649C>T (p.Pro2217Ser) c.6646C>T (p.Pro2216Ser) c.6592C>T (p.Pro2198Ser) c.6578-16C>T (n.6578-16C>T) c.6517C>T (p.Pro2173Ser) c.6112C>T (p.Pro2038Ser) c.5470C>T (p.Pro1824Ser) c.2980C>T (p.Pro994Ser) n.6895C>T | COSMIC |
10 | g.71793386C>A | CA377155091 | CDH23 | c.6458C>A (p.Pro2153His) c.6473C>A (p.Pro2158His) c.6653C>A (p.Pro2218His) c.6587C>A (p.Pro2196His) c.6650C>A (p.Pro2217His) c.6647C>A (p.Pro2216His) c.6593C>A (p.Pro2198His) c.6578-15C>A (n.6578-15C>A) c.6518C>A (p.Pro2173His) c.6113C>A (p.Pro2038His) c.5471C>A (p.Pro1824His) c.2981C>A (p.Pro994His) n.6896C>A | |
10 | g.71793386C>G | CA377155088 | CDH23 | c.6458C>G (p.Pro2153Arg) c.6473C>G (p.Pro2158Arg) c.6653C>G (p.Pro2218Arg) c.6587C>G (p.Pro2196Arg) c.6650C>G (p.Pro2217Arg) c.6647C>G (p.Pro2216Arg) c.6593C>G (p.Pro2198Arg) c.6578-15C>G (n.6578-15C>G) c.6518C>G (p.Pro2173Arg) c.6113C>G (p.Pro2038Arg) c.5471C>G (p.Pro1824Arg) c.2981C>G (p.Pro994Arg) n.6896C>G | |
10 | g.71793386C>T | CA377155087 | CDH23 | c.6458C>T (p.Pro2153Leu) c.6473C>T (p.Pro2158Leu) c.6653C>T (p.Pro2218Leu) c.6587C>T (p.Pro2196Leu) c.6650C>T (p.Pro2217Leu) c.6647C>T (p.Pro2216Leu) c.6593C>T (p.Pro2198Leu) c.6578-15C>T (n.6578-15C>T) c.6518C>T (p.Pro2173Leu) c.6113C>T (p.Pro2038Leu) c.5471C>T (p.Pro1824Leu) c.2981C>T (p.Pro994Leu) n.6896C>T | dbSNP |
10 | g.71793391_71793392dup | CA209466191 | CDH23 | c.6463_6464dup (p.Gly2156ArgfsTer9) c.6478_6479dup (p.Gly2161ArgfsTer9) c.6658_6659dup (p.Gly2221ArgfsTer9) c.6592_6593dup (p.Gly2199ArgfsTer9) c.6655_6656dup (p.Gly2220ArgfsTer9) c.6652_6653dup (p.Gly2219ArgfsTer9) c.6598_6599dup (p.Gly2201ArgfsTer9) c.6578-10_6578-9dup (n.6578-10_6578-9dup) c.6523_6524dup (p.Gly2176ArgfsTer9) c.6118_6119dup (p.Gly2041ArgfsTer9) c.5476_5477dup (p.Gly1827ArgfsTer9) c.2986_2987dup (p.Gly997ArgfsTer9) n.6901_6902dup | ClinVar dbSNP gnomAD v4 |
10 | g.71793387T>C | CA5546090 | CDH23 | c.6459T>C (p.Pro2153=) c.6474T>C (p.Pro2158=) c.6654T>C (p.Pro2218=) c.6588T>C (p.Pro2196=) c.6651T>C (p.Pro2217=) c.6648T>C (p.Pro2216=) c.6594T>C (p.Pro2198=) c.6578-14T>C (n.6578-14T>C) c.6519T>C (p.Pro2173=) c.6114T>C (p.Pro2038=) c.5472T>C (p.Pro1824=) c.2982T>C (p.Pro994=) n.6897T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71793387T= | CA1918874405 | CDH23 | c.6459T= (p.Pro2153=) c.6474T= (p.Pro2158=) c.6654T= (p.Pro2218=) c.6588T= (p.Pro2196=) c.6651T= (p.Pro2217=) c.6648T= (p.Pro2216=) c.6594T= (p.Pro2198=) c.6578-14T= (n.6578-14T=) c.6519T= (p.Pro2173=) c.6114T= (p.Pro2038=) c.5472T= (p.Pro1824=) c.2982T= (p.Pro994=) n.6897T= | |
10 | g.71793388C>A | CA377155094 | CDH23 | c.6460C>A (p.Leu2154Ile) c.6475C>A (p.Leu2159Ile) c.6655C>A (p.Leu2219Ile) c.6589C>A (p.Leu2197Ile) c.6652C>A (p.Leu2218Ile) c.6649C>A (p.Leu2217Ile) c.6595C>A (p.Leu2199Ile) c.6578-13C>A (n.6578-13C>A) c.6520C>A (p.Leu2174Ile) c.6115C>A (p.Leu2039Ile) c.5473C>A (p.Leu1825Ile) c.2983C>A (p.Leu995Ile) n.6898C>A | |
10 | g.71793388C>G | CA377155097 | CDH23 | c.6460C>G (p.Leu2154Val) c.6475C>G (p.Leu2159Val) c.6655C>G (p.Leu2219Val) c.6589C>G (p.Leu2197Val) c.6652C>G (p.Leu2218Val) c.6649C>G (p.Leu2217Val) c.6595C>G (p.Leu2199Val) c.6578-13C>G (n.6578-13C>G) c.6520C>G (p.Leu2174Val) c.6115C>G (p.Leu2039Val) c.5473C>G (p.Leu1825Val) c.2983C>G (p.Leu995Val) n.6898C>G | |
10 | g.71793388C>T | CA377155101 | CDH23 | c.6460C>T (p.Leu2154Phe) c.6475C>T (p.Leu2159Phe) c.6655C>T (p.Leu2219Phe) c.6589C>T (p.Leu2197Phe) c.6652C>T (p.Leu2218Phe) c.6649C>T (p.Leu2217Phe) c.6595C>T (p.Leu2199Phe) c.6578-13C>T (n.6578-13C>T) c.6520C>T (p.Leu2174Phe) c.6115C>T (p.Leu2039Phe) c.5473C>T (p.Leu1825Phe) c.2983C>T (p.Leu995Phe) n.6898C>T | |
10 | g.71793389T>A | CA377155108 | CDH23 | c.6461T>A (p.Leu2154His) c.6476T>A (p.Leu2159His) c.6656T>A (p.Leu2219His) c.6590T>A (p.Leu2197His) c.6653T>A (p.Leu2218His) c.6650T>A (p.Leu2217His) c.6596T>A (p.Leu2199His) c.6578-12T>A (n.6578-12T>A) c.6521T>A (p.Leu2174His) c.6116T>A (p.Leu2039His) c.5474T>A (p.Leu1825His) c.2984T>A (p.Leu995His) n.6899T>A | |
10 | g.71793389T>C | CA377155106 | CDH23 | c.6461T>C (p.Leu2154Pro) c.6476T>C (p.Leu2159Pro) c.6656T>C (p.Leu2219Pro) c.6590T>C (p.Leu2197Pro) c.6653T>C (p.Leu2218Pro) c.6650T>C (p.Leu2217Pro) c.6596T>C (p.Leu2199Pro) c.6578-12T>C (n.6578-12T>C) c.6521T>C (p.Leu2174Pro) c.6116T>C (p.Leu2039Pro) c.5474T>C (p.Leu1825Pro) c.2984T>C (p.Leu995Pro) n.6899T>C | dbSNP |
10 | g.71793389T>G | CA377155104 | CDH23 | c.6461T>G (p.Leu2154Arg) c.6476T>G (p.Leu2159Arg) c.6656T>G (p.Leu2219Arg) c.6590T>G (p.Leu2197Arg) c.6653T>G (p.Leu2218Arg) c.6650T>G (p.Leu2217Arg) c.6596T>G (p.Leu2199Arg) c.6578-12T>G (n.6578-12T>G) c.6521T>G (p.Leu2174Arg) c.6116T>G (p.Leu2039Arg) c.5474T>G (p.Leu1825Arg) c.2984T>G (p.Leu995Arg) n.6899T>G | |
10 | g.71793390C>A | CA2722047715 | CDH23 | c.6462C>A (p.Leu2154=) c.6477C>A (p.Leu2159=) c.6657C>A (p.Leu2219=) c.6591C>A (p.Leu2197=) c.6654C>A (p.Leu2218=) c.6651C>A (p.Leu2217=) c.6597C>A (p.Leu2199=) c.6578-11C>A (n.6578-11C>A) c.6522C>A (p.Leu2174=) c.6117C>A (p.Leu2039=) c.5475C>A (p.Leu1825=) c.2985C>A (p.Leu995=) n.6900C>A | dbSNP |
10 | g.71793390C= | CA1918874407 | CDH23 | c.6462C= (p.Leu2154=) c.6477C= (p.Leu2159=) c.6657C= (p.Leu2219=) c.6591C= (p.Leu2197=) c.6654C= (p.Leu2218=) c.6651C= (p.Leu2217=) c.6597C= (p.Leu2199=) c.6578-11C= (n.6578-11C=) c.6522C= (p.Leu2174=) c.6117C= (p.Leu2039=) c.5475C= (p.Leu1825=) c.2985C= (p.Leu995=) n.6900C= | |
10 | g.71793390C>T | CA668109067 | CDH23 | c.6462C>T (p.Leu2154=) c.6477C>T (p.Leu2159=) c.6657C>T (p.Leu2219=) c.6591C>T (p.Leu2197=) c.6654C>T (p.Leu2218=) c.6651C>T (p.Leu2217=) c.6597C>T (p.Leu2199=) c.6578-11C>T (n.6578-11C>T) c.6522C>T (p.Leu2174=) c.6117C>T (p.Leu2039=) c.5475C>T (p.Leu1825=) c.2985C>T (p.Leu995=) n.6900C>T | dbSNP |
10 | g.71793391T>A | CA377155110 | CDH23 | c.6463T>A (p.Ser2155Thr) c.6478T>A (p.Ser2160Thr) c.6658T>A (p.Ser2220Thr) c.6592T>A (p.Ser2198Thr) c.6655T>A (p.Ser2219Thr) c.6652T>A (p.Ser2218Thr) c.6598T>A (p.Ser2200Thr) c.6578-10T>A (n.6578-10T>A) c.6523T>A (p.Ser2175Thr) c.6118T>A (p.Ser2040Thr) c.5476T>A (p.Ser1826Thr) c.2986T>A (p.Ser996Thr) n.6901T>A | |
10 | g.71793391T>C | CA377155112 | CDH23 | c.6463T>C (p.Ser2155Pro) c.6478T>C (p.Ser2160Pro) c.6658T>C (p.Ser2220Pro) c.6592T>C (p.Ser2198Pro) c.6655T>C (p.Ser2219Pro) c.6652T>C (p.Ser2218Pro) c.6598T>C (p.Ser2200Pro) c.6578-10T>C (n.6578-10T>C) c.6523T>C (p.Ser2175Pro) c.6118T>C (p.Ser2040Pro) c.5476T>C (p.Ser1826Pro) c.2986T>C (p.Ser996Pro) n.6901T>C | |
10 | g.71793391T>G | CA377155114 | CDH23 | c.6463T>G (p.Ser2155Ala) c.6478T>G (p.Ser2160Ala) c.6658T>G (p.Ser2220Ala) c.6592T>G (p.Ser2198Ala) c.6655T>G (p.Ser2219Ala) c.6652T>G (p.Ser2218Ala) c.6598T>G (p.Ser2200Ala) c.6578-10T>G (n.6578-10T>G) c.6523T>G (p.Ser2175Ala) c.6118T>G (p.Ser2040Ala) c.5476T>G (p.Ser1826Ala) c.2986T>G (p.Ser996Ala) n.6901T>G | dbSNP |
10 | g.71793391T= | CA1918874410 | CDH23 | c.6463T= (p.Ser2155=) c.6478T= (p.Ser2160=) c.6658T= (p.Ser2220=) c.6592T= (p.Ser2198=) c.6655T= (p.Ser2219=) c.6652T= (p.Ser2218=) c.6598T= (p.Ser2200=) c.6578-10T= (n.6578-10T=) c.6523T= (p.Ser2175=) c.6118T= (p.Ser2040=) c.5476T= (p.Ser1826=) c.2986T= (p.Ser996=) n.6901T= | |
10 | g.71793392C>A | CA377155116 | CDH23 | c.6464C>A (p.Ser2155Ter) c.6479C>A (p.Ser2160Ter) c.6659C>A (p.Ser2220Ter) c.6593C>A (p.Ser2198Ter) c.6656C>A (p.Ser2219Ter) c.6653C>A (p.Ser2218Ter) c.6599C>A (p.Ser2200Ter) c.6578-9C>A (n.6578-9C>A) c.6524C>A (p.Ser2175Ter) c.6119C>A (p.Ser2040Ter) c.5477C>A (p.Ser1826Ter) c.2987C>A (p.Ser996Ter) n.6902C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793392C= | CA1918874412 | CDH23 | c.6464C= (p.Ser2155=) c.6479C= (p.Ser2160=) c.6659C= (p.Ser2220=) c.6593C= (p.Ser2198=) c.6656C= (p.Ser2219=) c.6653C= (p.Ser2218=) c.6599C= (p.Ser2200=) c.6578-9C= (n.6578-9C=) c.6524C= (p.Ser2175=) c.6119C= (p.Ser2040=) c.5477C= (p.Ser1826=) c.2987C= (p.Ser996=) n.6902C= | |
10 | g.71793392C>G | CA377155118 | CDH23 | c.6464C>G (p.Ser2155Trp) c.6479C>G (p.Ser2160Trp) c.6659C>G (p.Ser2220Trp) c.6593C>G (p.Ser2198Trp) c.6656C>G (p.Ser2219Trp) c.6653C>G (p.Ser2218Trp) c.6599C>G (p.Ser2200Trp) c.6578-9C>G (n.6578-9C>G) c.6524C>G (p.Ser2175Trp) c.6119C>G (p.Ser2040Trp) c.5477C>G (p.Ser1826Trp) c.2987C>G (p.Ser996Trp) n.6902C>G | |
10 | g.71793392C>T | CA5546091 | CDH23 | c.6464C>T (p.Ser2155Leu) c.6479C>T (p.Ser2160Leu) c.6659C>T (p.Ser2220Leu) c.6593C>T (p.Ser2198Leu) c.6656C>T (p.Ser2219Leu) c.6653C>T (p.Ser2218Leu) c.6599C>T (p.Ser2200Leu) c.6578-9C>T (n.6578-9C>T) c.6524C>T (p.Ser2175Leu) c.6119C>T (p.Ser2040Leu) c.5477C>T (p.Ser1826Leu) c.2987C>T (p.Ser996Leu) n.6902C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71793393G>A | CA5546092 | CDH23 | c.6465G>A (p.Ser2155=) c.6480G>A (p.Ser2160=) c.6660G>A (p.Ser2220=) c.6594G>A (p.Ser2198=) c.6657G>A (p.Ser2219=) c.6654G>A (p.Ser2218=) c.6600G>A (p.Ser2200=) c.6578-8G>A (n.6578-8G>A) c.6525G>A (p.Ser2175=) c.6120G>A (p.Ser2040=) c.5478G>A (p.Ser1826=) c.2988G>A (p.Ser996=) n.6903G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793393G>C | CA2574578498 | CDH23 | c.6465G>C (p.Ser2155=) c.6480G>C (p.Ser2160=) c.6660G>C (p.Ser2220=) c.6594G>C (p.Ser2198=) c.6657G>C (p.Ser2219=) c.6654G>C (p.Ser2218=) c.6600G>C (p.Ser2200=) c.6578-8G>C (n.6578-8G>C) c.6525G>C (p.Ser2175=) c.6120G>C (p.Ser2040=) c.5478G>C (p.Ser1826=) c.2988G>C (p.Ser996=) n.6903G>C | |
10 | g.71793393G= | CA1918874417 | CDH23 | c.6465G= (p.Ser2155=) c.6480G= (p.Ser2160=) c.6660G= (p.Ser2220=) c.6594G= (p.Ser2198=) c.6657G= (p.Ser2219=) c.6654G= (p.Ser2218=) c.6600G= (p.Ser2200=) c.6578-8G= (n.6578-8G=) c.6525G= (p.Ser2175=) c.6120G= (p.Ser2040=) c.5478G= (p.Ser1826=) c.2988G= (p.Ser996=) n.6903G= | |
10 | g.71793393G>T | CA645559614 | CDH23 | c.6465G>T (p.Ser2155=) c.6480G>T (p.Ser2160=) c.6660G>T (p.Ser2220=) c.6594G>T (p.Ser2198=) c.6657G>T (p.Ser2219=) c.6654G>T (p.Ser2218=) c.6600G>T (p.Ser2200=) c.6578-8G>T (n.6578-8G>T) c.6525G>T (p.Ser2175=) c.6120G>T (p.Ser2040=) c.5478G>T (p.Ser1826=) c.2988G>T (p.Ser996=) n.6903G>T | COSMIC |
10 | g.71793395dup | CA2609580707 | CDH23 | c.6467dup (p.Thr2157HisfsTer10) c.6482dup (p.Thr2162HisfsTer10) c.6662dup (p.Thr2222HisfsTer10) c.6596dup (p.Thr2200HisfsTer10) c.6659dup (p.Thr2221HisfsTer10) c.6656dup (p.Thr2220HisfsTer10) c.6602dup (p.Thr2202HisfsTer10) c.6578-6dup (n.6578-6dup) c.6527dup (p.Thr2177HisfsTer10) c.6122dup (p.Thr2042HisfsTer10) c.5480dup (p.Thr1828HisfsTer10) c.2990dup (p.Thr998HisfsTer10) n.6905dup | gnomAD v4 |
10 | g.71793394G>A | CA377155124 | CDH23 | c.6466G>A (p.Gly2156Ser) c.6481G>A (p.Gly2161Ser) c.6661G>A (p.Gly2221Ser) c.6595G>A (p.Gly2199Ser) c.6658G>A (p.Gly2220Ser) c.6655G>A (p.Gly2219Ser) c.6601G>A (p.Gly2201Ser) c.6578-7G>A (n.6578-7G>A) c.6526G>A (p.Gly2176Ser) c.6121G>A (p.Gly2041Ser) c.5479G>A (p.Gly1827Ser) c.2989G>A (p.Gly997Ser) n.6904G>A | gnomAD v4 |
10 | g.71793394G>C | CA377155126 | CDH23 | c.6466G>C (p.Gly2156Arg) c.6481G>C (p.Gly2161Arg) c.6661G>C (p.Gly2221Arg) c.6595G>C (p.Gly2199Arg) c.6658G>C (p.Gly2220Arg) c.6655G>C (p.Gly2219Arg) c.6601G>C (p.Gly2201Arg) c.6578-7G>C (n.6578-7G>C) c.6526G>C (p.Gly2176Arg) c.6121G>C (p.Gly2041Arg) c.5479G>C (p.Gly1827Arg) c.2989G>C (p.Gly997Arg) n.6904G>C | |
10 | g.71793394G>T | CA377155122 | CDH23 | c.6466G>T (p.Gly2156Cys) c.6481G>T (p.Gly2161Cys) c.6661G>T (p.Gly2221Cys) c.6595G>T (p.Gly2199Cys) c.6658G>T (p.Gly2220Cys) c.6655G>T (p.Gly2219Cys) c.6601G>T (p.Gly2201Cys) c.6578-7G>T (n.6578-7G>T) c.6526G>T (p.Gly2176Cys) c.6121G>T (p.Gly2041Cys) c.5479G>T (p.Gly1827Cys) c.2989G>T (p.Gly997Cys) n.6904G>T | |
10 | g.71793395G>A | CA377155128 | CDH23 | c.6467G>A (p.Gly2156Asp) c.6482G>A (p.Gly2161Asp) c.6662G>A (p.Gly2221Asp) c.6596G>A (p.Gly2199Asp) c.6659G>A (p.Gly2220Asp) c.6656G>A (p.Gly2219Asp) c.6602G>A (p.Gly2201Asp) c.6578-6G>A (n.6578-6G>A) c.6527G>A (p.Gly2176Asp) c.6122G>A (p.Gly2041Asp) c.5480G>A (p.Gly1827Asp) c.2990G>A (p.Gly997Asp) n.6905G>A | dbSNP gnomAD v4 |
10 | g.71793395G>C | CA377155129 | CDH23 | c.6467G>C (p.Gly2156Ala) c.6482G>C (p.Gly2161Ala) c.6662G>C (p.Gly2221Ala) c.6596G>C (p.Gly2199Ala) c.6659G>C (p.Gly2220Ala) c.6656G>C (p.Gly2219Ala) c.6602G>C (p.Gly2201Ala) c.6578-6G>C (n.6578-6G>C) c.6527G>C (p.Gly2176Ala) c.6122G>C (p.Gly2041Ala) c.5480G>C (p.Gly1827Ala) c.2990G>C (p.Gly997Ala) n.6905G>C | |
10 | g.71793395G= | CA1918874423 | CDH23 | c.6467G= (p.Gly2156=) c.6482G= (p.Gly2161=) c.6662G= (p.Gly2221=) c.6596G= (p.Gly2199=) c.6659G= (p.Gly2220=) c.6656G= (p.Gly2219=) c.6602G= (p.Gly2201=) c.6578-6G= (n.6578-6G=) c.6527G= (p.Gly2176=) c.6122G= (p.Gly2041=) c.5480G= (p.Gly1827=) c.2990G= (p.Gly997=) n.6905G= | |
10 | g.71793395G>T | CA377155130 | CDH23 | c.6467G>T (p.Gly2156Val) c.6482G>T (p.Gly2161Val) c.6662G>T (p.Gly2221Val) c.6596G>T (p.Gly2199Val) c.6659G>T (p.Gly2220Val) c.6656G>T (p.Gly2219Val) c.6602G>T (p.Gly2201Val) c.6578-6G>T (n.6578-6G>T) c.6527G>T (p.Gly2176Val) c.6122G>T (p.Gly2041Val) c.5480G>T (p.Gly1827Val) c.2990G>T (p.Gly997Val) n.6905G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793396C>A | CA2722050455 | CDH23 | c.6468C>A (p.Gly2156=) c.6483C>A (p.Gly2161=) c.6663C>A (p.Gly2221=) c.6597C>A (p.Gly2199=) c.6660C>A (p.Gly2220=) c.6657C>A (p.Gly2219=) c.6603C>A (p.Gly2201=) c.6578-5C>A (n.6578-5C>A) c.6528C>A (p.Gly2176=) c.6123C>A (p.Gly2041=) c.5481C>A (p.Gly1827=) c.2991C>A (p.Gly997=) n.6906C>A | ClinVar dbSNP |
10 | g.71793396C= | CA1918874425 | CDH23 | c.6468C= (p.Gly2156=) c.6483C= (p.Gly2161=) c.6663C= (p.Gly2221=) c.6597C= (p.Gly2199=) c.6660C= (p.Gly2220=) c.6657C= (p.Gly2219=) c.6603C= (p.Gly2201=) c.6578-5C= (n.6578-5C=) c.6528C= (p.Gly2176=) c.6123C= (p.Gly2041=) c.5481C= (p.Gly1827=) c.2991C= (p.Gly997=) n.6906C= | |
10 | g.71793396C>T | CA594705923 | CDH23 | c.6468C>T (p.Gly2156=) c.6483C>T (p.Gly2161=) c.6663C>T (p.Gly2221=) c.6597C>T (p.Gly2199=) c.6660C>T (p.Gly2220=) c.6657C>T (p.Gly2219=) c.6603C>T (p.Gly2201=) c.6578-5C>T (n.6578-5C>T) c.6528C>T (p.Gly2176=) c.6123C>T (p.Gly2041=) c.5481C>T (p.Gly1827=) c.2991C>T (p.Gly997=) n.6906C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793397A= | CA1918874428 | CDH23 | c.6469A= (p.Thr2157=) c.6484A= (p.Thr2162=) c.6664A= (p.Thr2222=) c.6598A= (p.Thr2200=) c.6661A= (p.Thr2221=) c.6658A= (p.Thr2220=) c.6604A= (p.Thr2202=) c.6578-4A= (n.6578-4A=) c.6529A= (p.Thr2177=) c.6124A= (p.Thr2042=) c.5482A= (p.Thr1828=) c.2992A= (p.Thr998=) n.6907A= | |
10 | g.71793397A>C | CA377155131 | CDH23 | c.6469A>C (p.Thr2157Pro) c.6484A>C (p.Thr2162Pro) c.6664A>C (p.Thr2222Pro) c.6598A>C (p.Thr2200Pro) c.6661A>C (p.Thr2221Pro) c.6658A>C (p.Thr2220Pro) c.6604A>C (p.Thr2202Pro) c.6578-4A>C (n.6578-4A>C) c.6529A>C (p.Thr2177Pro) c.6124A>C (p.Thr2042Pro) c.5482A>C (p.Thr1828Pro) c.2992A>C (p.Thr998Pro) n.6907A>C | dbSNP |
10 | g.71793397A>G | CA377155132 | CDH23 | c.6469A>G (p.Thr2157Ala) c.6484A>G (p.Thr2162Ala) c.6664A>G (p.Thr2222Ala) c.6598A>G (p.Thr2200Ala) c.6661A>G (p.Thr2221Ala) c.6658A>G (p.Thr2220Ala) c.6604A>G (p.Thr2202Ala) c.6578-4A>G (n.6578-4A>G) c.6529A>G (p.Thr2177Ala) c.6124A>G (p.Thr2042Ala) c.5482A>G (p.Thr1828Ala) c.2992A>G (p.Thr998Ala) n.6907A>G | gnomAD v4 |
10 | g.71793397A>T | CA377155133 | CDH23 | c.6469A>T (p.Thr2157Ser) c.6484A>T (p.Thr2162Ser) c.6664A>T (p.Thr2222Ser) c.6598A>T (p.Thr2200Ser) c.6661A>T (p.Thr2221Ser) c.6658A>T (p.Thr2220Ser) c.6604A>T (p.Thr2202Ser) c.6578-4A>T (n.6578-4A>T) c.6529A>T (p.Thr2177Ser) c.6124A>T (p.Thr2042Ser) c.5482A>T (p.Thr1828Ser) c.2992A>T (p.Thr998Ser) n.6907A>T | |
10 | g.71793398C>A | CA377155136 | CDH23 | c.6470C>A (p.Thr2157Lys) c.6485C>A (p.Thr2162Lys) c.6665C>A (p.Thr2222Lys) c.6599C>A (p.Thr2200Lys) c.6662C>A (p.Thr2221Lys) c.6659C>A (p.Thr2220Lys) c.6605C>A (p.Thr2202Lys) c.6578-3C>A (n.6578-3C>A) c.6530C>A (p.Thr2177Lys) c.6125C>A (p.Thr2042Lys) c.5483C>A (p.Thr1828Lys) c.2993C>A (p.Thr998Lys) n.6908C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793398C= | CA1918874430 | CDH23 | c.6470C= (p.Thr2157=) c.6485C= (p.Thr2162=) c.6665C= (p.Thr2222=) c.6599C= (p.Thr2200=) c.6662C= (p.Thr2221=) c.6659C= (p.Thr2220=) c.6605C= (p.Thr2202=) c.6578-3C= (n.6578-3C=) c.6530C= (p.Thr2177=) c.6125C= (p.Thr2042=) c.5483C= (p.Thr1828=) c.2993C= (p.Thr998=) n.6908C= | |
10 | g.71793398C>G | CA377155135 | CDH23 | c.6470C>G (p.Thr2157Arg) c.6485C>G (p.Thr2162Arg) c.6665C>G (p.Thr2222Arg) c.6599C>G (p.Thr2200Arg) c.6662C>G (p.Thr2221Arg) c.6659C>G (p.Thr2220Arg) c.6605C>G (p.Thr2202Arg) c.6578-3C>G (n.6578-3C>G) c.6530C>G (p.Thr2177Arg) c.6125C>G (p.Thr2042Arg) c.5483C>G (p.Thr1828Arg) c.2993C>G (p.Thr998Arg) n.6908C>G | |
10 | g.71793398C>T | CA377155134 | CDH23 | c.6470C>T (p.Thr2157Ile) c.6485C>T (p.Thr2162Ile) c.6665C>T (p.Thr2222Ile) c.6599C>T (p.Thr2200Ile) c.6662C>T (p.Thr2221Ile) c.6659C>T (p.Thr2220Ile) c.6605C>T (p.Thr2202Ile) c.6578-3C>T (n.6578-3C>T) c.6530C>T (p.Thr2177Ile) c.6125C>T (p.Thr2042Ile) c.5483C>T (p.Thr1828Ile) c.2993C>T (p.Thr998Ile) n.6908C>T | dbSNP gnomAD v4 |
10 | g.71793400G>A | CA377155137 | CDH23 | c.6472G>A (p.Ala2158Thr) c.6487G>A (p.Ala2163Thr) c.6667G>A (p.Ala2223Thr) c.6601G>A (p.Ala2201Thr) c.6664G>A (p.Ala2222Thr) c.6661G>A (p.Ala2221Thr) c.6607G>A (p.Ala2203Thr) c.6578-1G>A (n.6578-1G>A) c.6532G>A (p.Ala2178Thr) c.6127G>A (p.Ala2043Thr) c.5485G>A (p.Ala1829Thr) c.2995G>A (p.Ala999Thr) n.6910G>A | dbSNP gnomAD v4 |
10 | g.71793400G>C | CA377155138 | CDH23 | c.6472G>C (p.Ala2158Pro) c.6487G>C (p.Ala2163Pro) c.6667G>C (p.Ala2223Pro) c.6601G>C (p.Ala2201Pro) c.6664G>C (p.Ala2222Pro) c.6661G>C (p.Ala2221Pro) c.6607G>C (p.Ala2203Pro) c.6578-1G>C (n.6578-1G>C) c.6532G>C (p.Ala2178Pro) c.6127G>C (p.Ala2043Pro) c.5485G>C (p.Ala1829Pro) c.2995G>C (p.Ala999Pro) n.6910G>C | |
10 | g.71793400G>T | CA377155139 | CDH23 | c.6472G>T (p.Ala2158Ser) c.6487G>T (p.Ala2163Ser) c.6667G>T (p.Ala2223Ser) c.6601G>T (p.Ala2201Ser) c.6664G>T (p.Ala2222Ser) c.6661G>T (p.Ala2221Ser) c.6607G>T (p.Ala2203Ser) c.6578-1G>T (n.6578-1G>T) c.6532G>T (p.Ala2178Ser) c.6127G>T (p.Ala2043Ser) c.5485G>T (p.Ala1829Ser) c.2995G>T (p.Ala999Ser) n.6910G>T | |
10 | g.71793401C>A | CA377155140 | CDH23 | c.6473C>A (p.Ala2158Asp) c.6488C>A (p.Ala2163Asp) c.6668C>A (p.Ala2223Asp) c.6602C>A (p.Ala2201Asp) c.6665C>A (p.Ala2222Asp) c.6662C>A (p.Ala2221Asp) c.6608C>A (p.Ala2203Asp) c.6578C>A (p.Ala2193Asp) c.6533C>A (p.Ala2178Asp) c.6128C>A (p.Ala2043Asp) c.5486C>A (p.Ala1829Asp) c.2996C>A (p.Ala999Asp) n.6911C>A | dbSNP |
10 | g.71793401C= | CA1918874433 | CDH23 | c.6473C= (p.Ala2158=) c.6488C= (p.Ala2163=) c.6668C= (p.Ala2223=) c.6602C= (p.Ala2201=) c.6665C= (p.Ala2222=) c.6662C= (p.Ala2221=) c.6608C= (p.Ala2203=) c.6578C= (p.Ala2193=) c.6533C= (p.Ala2178=) c.6128C= (p.Ala2043=) c.5486C= (p.Ala1829=) c.2996C= (p.Ala999=) n.6911C= | |
10 | g.71793401C>G | CA377155141 | CDH23 | c.6473C>G (p.Ala2158Gly) c.6488C>G (p.Ala2163Gly) c.6668C>G (p.Ala2223Gly) c.6602C>G (p.Ala2201Gly) c.6665C>G (p.Ala2222Gly) c.6662C>G (p.Ala2221Gly) c.6608C>G (p.Ala2203Gly) c.6578C>G (p.Ala2193Gly) c.6533C>G (p.Ala2178Gly) c.6128C>G (p.Ala2043Gly) c.5486C>G (p.Ala1829Gly) c.2996C>G (p.Ala999Gly) n.6911C>G | |
10 | g.71793401C>T | CA377155142 | CDH23 | c.6473C>T (p.Ala2158Val) c.6488C>T (p.Ala2163Val) c.6668C>T (p.Ala2223Val) c.6602C>T (p.Ala2201Val) c.6665C>T (p.Ala2222Val) c.6662C>T (p.Ala2221Val) c.6608C>T (p.Ala2203Val) c.6578C>T (p.Ala2193Val) c.6533C>T (p.Ala2178Val) c.6128C>T (p.Ala2043Val) c.5486C>T (p.Ala1829Val) c.2996C>T (p.Ala999Val) n.6911C>T | dbSNP gnomAD v4 COSMIC |
10 | g.71793402dup | CA2573145267 | CDH23 | c.6474dup (p.Ile2159HisfsTer8) c.6489dup (p.Ile2164HisfsTer8) c.6669dup (p.Ile2224HisfsTer8) c.6603dup (p.Ile2202HisfsTer8) c.6666dup (p.Ile2223HisfsTer8) c.6663dup (p.Ile2222HisfsTer8) c.6609dup (p.Ile2204HisfsTer8) c.6579dup (p.Ile2194HisfsTer8) c.6534dup (p.Ile2179HisfsTer8) c.6129dup (p.Ile2044HisfsTer8) c.5487dup (p.Ile1830HisfsTer8) c.2997dup (p.Ile1000HisfsTer8) n.6912dup | ClinVar dbSNP |
10 | g.71793402C>T | CA2609580735 | CDH23 | c.6474C>T (p.Ala2158=) c.6489C>T (p.Ala2163=) c.6669C>T (p.Ala2223=) c.6603C>T (p.Ala2201=) c.6666C>T (p.Ala2222=) c.6663C>T (p.Ala2221=) c.6609C>T (p.Ala2203=) c.6579C>T (p.Ala2193=) c.6534C>T (p.Ala2178=) c.6129C>T (p.Ala2043=) c.5487C>T (p.Ala1829=) c.2997C>T (p.Ala999=) n.6912C>T | gnomAD v4 |
10 | g.71793403A>C | CA377155145 | CDH23 | c.6475A>C (p.Ile2159Leu) c.6490A>C (p.Ile2164Leu) c.6670A>C (p.Ile2224Leu) c.6604A>C (p.Ile2202Leu) c.6667A>C (p.Ile2223Leu) c.6664A>C (p.Ile2222Leu) c.6610A>C (p.Ile2204Leu) c.6580A>C (p.Ile2194Leu) c.6535A>C (p.Ile2179Leu) c.6130A>C (p.Ile2044Leu) c.5488A>C (p.Ile1830Leu) c.2998A>C (p.Ile1000Leu) n.6913A>C | gnomAD v4 |
10 | g.71793403A>G | CA377155143 | CDH23 | c.6475A>G (p.Ile2159Val) c.6490A>G (p.Ile2164Val) c.6670A>G (p.Ile2224Val) c.6604A>G (p.Ile2202Val) c.6667A>G (p.Ile2223Val) c.6664A>G (p.Ile2222Val) c.6610A>G (p.Ile2204Val) c.6580A>G (p.Ile2194Val) c.6535A>G (p.Ile2179Val) c.6130A>G (p.Ile2044Val) c.5488A>G (p.Ile1830Val) c.2998A>G (p.Ile1000Val) n.6913A>G | ClinVar |
10 | g.71793403A>T | CA377155144 | CDH23 | c.6475A>T (p.Ile2159Phe) c.6490A>T (p.Ile2164Phe) c.6670A>T (p.Ile2224Phe) c.6604A>T (p.Ile2202Phe) c.6667A>T (p.Ile2223Phe) c.6664A>T (p.Ile2222Phe) c.6610A>T (p.Ile2204Phe) c.6580A>T (p.Ile2194Phe) c.6535A>T (p.Ile2179Phe) c.6130A>T (p.Ile2044Phe) c.5488A>T (p.Ile1830Phe) c.2998A>T (p.Ile1000Phe) n.6913A>T | dbSNP |
10 | g.71793404T>A | CA377155146 | CDH23 | c.6476T>A (p.Ile2159Asn) c.6491T>A (p.Ile2164Asn) c.6671T>A (p.Ile2224Asn) c.6605T>A (p.Ile2202Asn) c.6668T>A (p.Ile2223Asn) c.6665T>A (p.Ile2222Asn) c.6611T>A (p.Ile2204Asn) c.6581T>A (p.Ile2194Asn) c.6536T>A (p.Ile2179Asn) c.6131T>A (p.Ile2044Asn) c.5489T>A (p.Ile1830Asn) c.2999T>A (p.Ile1000Asn) n.6914T>A | |
10 | g.71793404T>C | CA377155147 | CDH23 | c.6476T>C (p.Ile2159Thr) c.6491T>C (p.Ile2164Thr) c.6671T>C (p.Ile2224Thr) c.6605T>C (p.Ile2202Thr) c.6668T>C (p.Ile2223Thr) c.6665T>C (p.Ile2222Thr) c.6611T>C (p.Ile2204Thr) c.6581T>C (p.Ile2194Thr) c.6536T>C (p.Ile2179Thr) c.6131T>C (p.Ile2044Thr) c.5489T>C (p.Ile1830Thr) c.2999T>C (p.Ile1000Thr) n.6914T>C | dbSNP |
10 | g.71793404T>G | CA377155148 | CDH23 | c.6476T>G (p.Ile2159Ser) c.6491T>G (p.Ile2164Ser) c.6671T>G (p.Ile2224Ser) c.6605T>G (p.Ile2202Ser) c.6668T>G (p.Ile2223Ser) c.6665T>G (p.Ile2222Ser) c.6611T>G (p.Ile2204Ser) c.6581T>G (p.Ile2194Ser) c.6536T>G (p.Ile2179Ser) c.6131T>G (p.Ile2044Ser) c.5489T>G (p.Ile1830Ser) c.2999T>G (p.Ile1000Ser) n.6914T>G | |
10 | g.71793405T>C | CA2532437179 | CDH23 | c.6477T>C (p.Ile2159=) c.6492T>C (p.Ile2164=) c.6672T>C (p.Ile2224=) c.6606T>C (p.Ile2202=) c.6669T>C (p.Ile2223=) c.6666T>C (p.Ile2222=) c.6612T>C (p.Ile2204=) c.6582T>C (p.Ile2194=) c.6537T>C (p.Ile2179=) c.6132T>C (p.Ile2044=) c.5490T>C (p.Ile1830=) c.3000T>C (p.Ile1000=) n.6915T>C | |
10 | g.71793405T>G | CA377155149 | CDH23 | c.6477T>G (p.Ile2159Met) c.6492T>G (p.Ile2164Met) c.6672T>G (p.Ile2224Met) c.6606T>G (p.Ile2202Met) c.6669T>G (p.Ile2223Met) c.6666T>G (p.Ile2222Met) c.6612T>G (p.Ile2204Met) c.6582T>G (p.Ile2194Met) c.6537T>G (p.Ile2179Met) c.6132T>G (p.Ile2044Met) c.5490T>G (p.Ile1830Met) c.3000T>G (p.Ile1000Met) n.6915T>G | |
10 | g.71793406G>A | CA377155150 | CDH23 | c.6478G>A (p.Val2160Ile) c.6493G>A (p.Val2165Ile) c.6673G>A (p.Val2225Ile) c.6607G>A (p.Val2203Ile) c.6670G>A (p.Val2224Ile) c.6667G>A (p.Val2223Ile) c.6613G>A (p.Val2205Ile) c.6583G>A (p.Val2195Ile) c.6538G>A (p.Val2180Ile) c.6133G>A (p.Val2045Ile) c.5491G>A (p.Val1831Ile) c.3001G>A (p.Val1001Ile) n.6916G>A | gnomAD v4 |
10 | g.71793406G>C | CA377155151 | CDH23 | c.6478G>C (p.Val2160Leu) c.6493G>C (p.Val2165Leu) c.6673G>C (p.Val2225Leu) c.6607G>C (p.Val2203Leu) c.6670G>C (p.Val2224Leu) c.6667G>C (p.Val2223Leu) c.6613G>C (p.Val2205Leu) c.6583G>C (p.Val2195Leu) c.6538G>C (p.Val2180Leu) c.6133G>C (p.Val2045Leu) c.5491G>C (p.Val1831Leu) c.3001G>C (p.Val1001Leu) n.6916G>C | dbSNP |
10 | g.71793406G>T | CA377155152 | CDH23 | c.6478G>T (p.Val2160Phe) c.6493G>T (p.Val2165Phe) c.6673G>T (p.Val2225Phe) c.6607G>T (p.Val2203Phe) c.6670G>T (p.Val2224Phe) c.6667G>T (p.Val2223Phe) c.6613G>T (p.Val2205Phe) c.6583G>T (p.Val2195Phe) c.6538G>T (p.Val2180Phe) c.6133G>T (p.Val2045Phe) c.5491G>T (p.Val1831Phe) c.3001G>T (p.Val1001Phe) n.6916G>T | |
10 | g.71793407T>A | CA377155153 | CDH23 | c.6479T>A (p.Val2160Asp) c.6494T>A (p.Val2165Asp) c.6674T>A (p.Val2225Asp) c.6608T>A (p.Val2203Asp) c.6671T>A (p.Val2224Asp) c.6668T>A (p.Val2223Asp) c.6614T>A (p.Val2205Asp) c.6584T>A (p.Val2195Asp) c.6539T>A (p.Val2180Asp) c.6134T>A (p.Val2045Asp) c.5492T>A (p.Val1831Asp) c.3002T>A (p.Val1001Asp) n.6917T>A | |
10 | g.71793407T>C | CA377155154 | CDH23 | c.6479T>C (p.Val2160Ala) c.6494T>C (p.Val2165Ala) c.6674T>C (p.Val2225Ala) c.6608T>C (p.Val2203Ala) c.6671T>C (p.Val2224Ala) c.6668T>C (p.Val2223Ala) c.6614T>C (p.Val2205Ala) c.6584T>C (p.Val2195Ala) c.6539T>C (p.Val2180Ala) c.6134T>C (p.Val2045Ala) c.5492T>C (p.Val1831Ala) c.3002T>C (p.Val1001Ala) n.6917T>C | dbSNP |
10 | g.71793407T>G | CA377155155 | CDH23 | c.6479T>G (p.Val2160Gly) c.6494T>G (p.Val2165Gly) c.6674T>G (p.Val2225Gly) c.6608T>G (p.Val2203Gly) c.6671T>G (p.Val2224Gly) c.6668T>G (p.Val2223Gly) c.6614T>G (p.Val2205Gly) c.6584T>G (p.Val2195Gly) c.6539T>G (p.Val2180Gly) c.6134T>G (p.Val2045Gly) c.5492T>G (p.Val1831Gly) c.3002T>G (p.Val1001Gly) n.6917T>G | |
10 | g.71793408C>A | CA2609580742 | CDH23 | c.6480C>A (p.Val2160=) c.6495C>A (p.Val2165=) c.6675C>A (p.Val2225=) c.6609C>A (p.Val2203=) c.6672C>A (p.Val2224=) c.6669C>A (p.Val2223=) c.6615C>A (p.Val2205=) c.6585C>A (p.Val2195=) c.6540C>A (p.Val2180=) c.6135C>A (p.Val2045=) c.5493C>A (p.Val1831=) c.3003C>A (p.Val1001=) n.6918C>A | gnomAD v4 |
10 | g.71793409A>C | CA377155156 | CDH23 | c.6481A>C (p.Thr2161Pro) c.6496A>C (p.Thr2166Pro) c.6676A>C (p.Thr2226Pro) c.6610A>C (p.Thr2204Pro) c.6673A>C (p.Thr2225Pro) c.6670A>C (p.Thr2224Pro) c.6616A>C (p.Thr2206Pro) c.6586A>C (p.Thr2196Pro) c.6541A>C (p.Thr2181Pro) c.6136A>C (p.Thr2046Pro) c.5494A>C (p.Thr1832Pro) c.3004A>C (p.Thr1002Pro) n.6919A>C | |
10 | g.71793409A>G | CA377155157 | CDH23 | c.6481A>G (p.Thr2161Ala) c.6496A>G (p.Thr2166Ala) c.6676A>G (p.Thr2226Ala) c.6610A>G (p.Thr2204Ala) c.6673A>G (p.Thr2225Ala) c.6670A>G (p.Thr2224Ala) c.6616A>G (p.Thr2206Ala) c.6586A>G (p.Thr2196Ala) c.6541A>G (p.Thr2181Ala) c.6136A>G (p.Thr2046Ala) c.5494A>G (p.Thr1832Ala) c.3004A>G (p.Thr1002Ala) n.6919A>G | |
10 | g.71793409A>T | CA377155158 | CDH23 | c.6481A>T (p.Thr2161Ser) c.6496A>T (p.Thr2166Ser) c.6676A>T (p.Thr2226Ser) c.6610A>T (p.Thr2204Ser) c.6673A>T (p.Thr2225Ser) c.6670A>T (p.Thr2224Ser) c.6616A>T (p.Thr2206Ser) c.6586A>T (p.Thr2196Ser) c.6541A>T (p.Thr2181Ser) c.6136A>T (p.Thr2046Ser) c.5494A>T (p.Thr1832Ser) c.3004A>T (p.Thr1002Ser) n.6919A>T | |
10 | g.71793410C>A | CA5546093 | CDH23 | c.6482C>A (p.Thr2161Asn) c.6497C>A (p.Thr2166Asn) c.6677C>A (p.Thr2226Asn) c.6611C>A (p.Thr2204Asn) c.6674C>A (p.Thr2225Asn) c.6671C>A (p.Thr2224Asn) c.6617C>A (p.Thr2206Asn) c.6587C>A (p.Thr2196Asn) c.6542C>A (p.Thr2181Asn) c.6137C>A (p.Thr2046Asn) c.5495C>A (p.Thr1832Asn) c.3005C>A (p.Thr1002Asn) n.6920C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793410C= | CA1918874436 | CDH23 | c.6482C= (p.Thr2161=) c.6497C= (p.Thr2166=) c.6677C= (p.Thr2226=) c.6611C= (p.Thr2204=) c.6674C= (p.Thr2225=) c.6671C= (p.Thr2224=) c.6617C= (p.Thr2206=) c.6587C= (p.Thr2196=) c.6542C= (p.Thr2181=) c.6137C= (p.Thr2046=) c.5495C= (p.Thr1832=) c.3005C= (p.Thr1002=) n.6920C= | |
10 | g.71793410C>G | CA377155159 | CDH23 | c.6482C>G (p.Thr2161Ser) c.6497C>G (p.Thr2166Ser) c.6677C>G (p.Thr2226Ser) c.6611C>G (p.Thr2204Ser) c.6674C>G (p.Thr2225Ser) c.6671C>G (p.Thr2224Ser) c.6617C>G (p.Thr2206Ser) c.6587C>G (p.Thr2196Ser) c.6542C>G (p.Thr2181Ser) c.6137C>G (p.Thr2046Ser) c.5495C>G (p.Thr1832Ser) c.3005C>G (p.Thr1002Ser) n.6920C>G | |
10 | g.71793410C>T | CA377155160 | CDH23 | c.6482C>T (p.Thr2161Ile) c.6497C>T (p.Thr2166Ile) c.6677C>T (p.Thr2226Ile) c.6611C>T (p.Thr2204Ile) c.6674C>T (p.Thr2225Ile) c.6671C>T (p.Thr2224Ile) c.6617C>T (p.Thr2206Ile) c.6587C>T (p.Thr2196Ile) c.6542C>T (p.Thr2181Ile) c.6137C>T (p.Thr2046Ile) c.5495C>T (p.Thr1832Ile) c.3005C>T (p.Thr1002Ile) n.6920C>T | |
10 | g.71793411C= | CA1918874439 | CDH23 | c.6483C= (p.Thr2161=) c.6498C= (p.Thr2166=) c.6678C= (p.Thr2226=) c.6612C= (p.Thr2204=) c.6675C= (p.Thr2225=) c.6672C= (p.Thr2224=) c.6618C= (p.Thr2206=) c.6588C= (p.Thr2196=) c.6543C= (p.Thr2181=) c.6138C= (p.Thr2046=) c.5496C= (p.Thr1832=) c.3006C= (p.Thr1002=) n.6921C= | |
10 | g.71793411C>T | CA594705924 | CDH23 | c.6483C>T (p.Thr2161=) c.6498C>T (p.Thr2166=) c.6678C>T (p.Thr2226=) c.6612C>T (p.Thr2204=) c.6675C>T (p.Thr2225=) c.6672C>T (p.Thr2224=) c.6618C>T (p.Thr2206=) c.6588C>T (p.Thr2196=) c.6543C>T (p.Thr2181=) c.6138C>T (p.Thr2046=) c.5496C>T (p.Thr1832=) c.3006C>T (p.Thr1002=) n.6921C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793412A= | CA1918874442 | CDH23 | c.6484A= (p.Ile2162=) c.6499A= (p.Ile2167=) c.6679A= (p.Ile2227=) c.6613A= (p.Ile2205=) c.6676A= (p.Ile2226=) c.6673A= (p.Ile2225=) c.6619A= (p.Ile2207=) c.6589A= (p.Ile2197=) c.6544A= (p.Ile2182=) c.6139A= (p.Ile2047=) c.5497A= (p.Ile1833=) c.3007A= (p.Ile1003=) n.6922A= | |
10 | g.71793412A>C | CA377155161 | CDH23 | c.6484A>C (p.Ile2162Leu) c.6499A>C (p.Ile2167Leu) c.6679A>C (p.Ile2227Leu) c.6613A>C (p.Ile2205Leu) c.6676A>C (p.Ile2226Leu) c.6673A>C (p.Ile2225Leu) c.6619A>C (p.Ile2207Leu) c.6589A>C (p.Ile2197Leu) c.6544A>C (p.Ile2182Leu) c.6139A>C (p.Ile2047Leu) c.5497A>C (p.Ile1833Leu) c.3007A>C (p.Ile1003Leu) n.6922A>C | |
10 | g.71793412A>G | CA377155162 | CDH23 | c.6484A>G (p.Ile2162Val) c.6499A>G (p.Ile2167Val) c.6679A>G (p.Ile2227Val) c.6613A>G (p.Ile2205Val) c.6676A>G (p.Ile2226Val) c.6673A>G (p.Ile2225Val) c.6619A>G (p.Ile2207Val) c.6589A>G (p.Ile2197Val) c.6544A>G (p.Ile2182Val) c.6139A>G (p.Ile2047Val) c.5497A>G (p.Ile1833Val) c.3007A>G (p.Ile1003Val) n.6922A>G | dbSNP gnomAD v4 |
10 | g.71793412A>T | CA377155163 | CDH23 | c.6484A>T (p.Ile2162Phe) c.6499A>T (p.Ile2167Phe) c.6679A>T (p.Ile2227Phe) c.6613A>T (p.Ile2205Phe) c.6676A>T (p.Ile2226Phe) c.6673A>T (p.Ile2225Phe) c.6619A>T (p.Ile2207Phe) c.6589A>T (p.Ile2197Phe) c.6544A>T (p.Ile2182Phe) c.6139A>T (p.Ile2047Phe) c.5497A>T (p.Ile1833Phe) c.3007A>T (p.Ile1003Phe) n.6922A>T | |
10 | g.71793413T>A | CA377155164 | CDH23 | c.6485T>A (p.Ile2162Asn) c.6500T>A (p.Ile2167Asn) c.6680T>A (p.Ile2227Asn) c.6614T>A (p.Ile2205Asn) c.6677T>A (p.Ile2226Asn) c.6674T>A (p.Ile2225Asn) c.6620T>A (p.Ile2207Asn) c.6590T>A (p.Ile2197Asn) c.6545T>A (p.Ile2182Asn) c.6140T>A (p.Ile2047Asn) c.5498T>A (p.Ile1833Asn) c.3008T>A (p.Ile1003Asn) n.6923T>A | |
10 | g.71793413T>C | CA377155165 | CDH23 | c.6485T>C (p.Ile2162Thr) c.6500T>C (p.Ile2167Thr) c.6680T>C (p.Ile2227Thr) c.6614T>C (p.Ile2205Thr) c.6677T>C (p.Ile2226Thr) c.6674T>C (p.Ile2225Thr) c.6620T>C (p.Ile2207Thr) c.6590T>C (p.Ile2197Thr) c.6545T>C (p.Ile2182Thr) c.6140T>C (p.Ile2047Thr) c.5498T>C (p.Ile1833Thr) c.3008T>C (p.Ile1003Thr) n.6923T>C | |
10 | g.71793413T>G | CA377155166 | CDH23 | c.6485T>G (p.Ile2162Ser) c.6500T>G (p.Ile2167Ser) c.6680T>G (p.Ile2227Ser) c.6614T>G (p.Ile2205Ser) c.6677T>G (p.Ile2226Ser) c.6674T>G (p.Ile2225Ser) c.6620T>G (p.Ile2207Ser) c.6590T>G (p.Ile2197Ser) c.6545T>G (p.Ile2182Ser) c.6140T>G (p.Ile2047Ser) c.5498T>G (p.Ile1833Ser) c.3008T>G (p.Ile1003Ser) n.6923T>G | |
10 | g.71793414T>C | CA2517689295 | CDH23 | c.6486T>C (p.Ile2162=) c.6501T>C (p.Ile2167=) c.6681T>C (p.Ile2227=) c.6615T>C (p.Ile2205=) c.6678T>C (p.Ile2226=) c.6675T>C (p.Ile2225=) c.6621T>C (p.Ile2207=) c.6591T>C (p.Ile2197=) c.6546T>C (p.Ile2182=) c.6141T>C (p.Ile2047=) c.5499T>C (p.Ile1833=) c.3009T>C (p.Ile1003=) n.6924T>C | ClinVar |
10 | g.71793414T>G | CA377155167 | CDH23 | c.6486T>G (p.Ile2162Met) c.6501T>G (p.Ile2167Met) c.6681T>G (p.Ile2227Met) c.6615T>G (p.Ile2205Met) c.6678T>G (p.Ile2226Met) c.6675T>G (p.Ile2225Met) c.6621T>G (p.Ile2207Met) c.6591T>G (p.Ile2197Met) c.6546T>G (p.Ile2182Met) c.6141T>G (p.Ile2047Met) c.5499T>G (p.Ile1833Met) c.3009T>G (p.Ile1003Met) n.6924T>G | |
10 | g.71793415C>A | CA209466197 | CDH23 | c.6487C>A (p.Leu2163Met) c.6502C>A (p.Leu2168Met) c.6682C>A (p.Leu2228Met) c.6616C>A (p.Leu2206Met) c.6679C>A (p.Leu2227Met) c.6676C>A (p.Leu2226Met) c.6622C>A (p.Leu2208Met) c.6592C>A (p.Leu2198Met) c.6547C>A (p.Leu2183Met) c.6142C>A (p.Leu2048Met) c.5500C>A (p.Leu1834Met) c.3010C>A (p.Leu1004Met) n.6925C>A | dbSNP gnomAD v4 |
10 | g.71793415C= | CA1918874444 | CDH23 | c.6487C= (p.Leu2163=) c.6502C= (p.Leu2168=) c.6682C= (p.Leu2228=) c.6616C= (p.Leu2206=) c.6679C= (p.Leu2227=) c.6676C= (p.Leu2226=) c.6622C= (p.Leu2208=) c.6592C= (p.Leu2198=) c.6547C= (p.Leu2183=) c.6142C= (p.Leu2048=) c.5500C= (p.Leu1834=) c.3010C= (p.Leu1004=) n.6925C= | |
10 | g.71793415C>G | CA377155168 | CDH23 | c.6487C>G (p.Leu2163Val) c.6502C>G (p.Leu2168Val) c.6682C>G (p.Leu2228Val) c.6616C>G (p.Leu2206Val) c.6679C>G (p.Leu2227Val) c.6676C>G (p.Leu2226Val) c.6622C>G (p.Leu2208Val) c.6592C>G (p.Leu2198Val) c.6547C>G (p.Leu2183Val) c.6142C>G (p.Leu2048Val) c.5500C>G (p.Leu1834Val) c.3010C>G (p.Leu1004Val) n.6925C>G | gnomAD v4 |
10 | g.71793416T>A | CA377155169 | CDH23 | c.6488T>A (p.Leu2163Gln) c.6503T>A (p.Leu2168Gln) c.6683T>A (p.Leu2228Gln) c.6617T>A (p.Leu2206Gln) c.6680T>A (p.Leu2227Gln) c.6677T>A (p.Leu2226Gln) c.6623T>A (p.Leu2208Gln) c.6593T>A (p.Leu2198Gln) c.6548T>A (p.Leu2183Gln) c.6143T>A (p.Leu2048Gln) c.5501T>A (p.Leu1834Gln) c.3011T>A (p.Leu1004Gln) n.6926T>A | |
10 | g.71793416T>C | CA377155170 | CDH23 | c.6488T>C (p.Leu2163Pro) c.6503T>C (p.Leu2168Pro) c.6683T>C (p.Leu2228Pro) c.6617T>C (p.Leu2206Pro) c.6680T>C (p.Leu2227Pro) c.6677T>C (p.Leu2226Pro) c.6623T>C (p.Leu2208Pro) c.6593T>C (p.Leu2198Pro) c.6548T>C (p.Leu2183Pro) c.6143T>C (p.Leu2048Pro) c.5501T>C (p.Leu1834Pro) c.3011T>C (p.Leu1004Pro) n.6926T>C | |
10 | g.71793416T>G | CA377155171 | CDH23 | c.6488T>G (p.Leu2163Arg) c.6503T>G (p.Leu2168Arg) c.6683T>G (p.Leu2228Arg) c.6617T>G (p.Leu2206Arg) c.6680T>G (p.Leu2227Arg) c.6677T>G (p.Leu2226Arg) c.6623T>G (p.Leu2208Arg) c.6593T>G (p.Leu2198Arg) c.6548T>G (p.Leu2183Arg) c.6143T>G (p.Leu2048Arg) c.5501T>G (p.Leu1834Arg) c.3011T>G (p.Leu1004Arg) n.6926T>G | |
10 | g.71793417G>A | CA1918874446 | CDH23 | c.6489G>A (p.Leu2163=) c.6504G>A (p.Leu2168=) c.6684G>A (p.Leu2228=) c.6618G>A (p.Leu2206=) c.6681G>A (p.Leu2227=) c.6678G>A (p.Leu2226=) c.6624G>A (p.Leu2208=) c.6594G>A (p.Leu2198=) c.6549G>A (p.Leu2183=) c.6144G>A (p.Leu2048=) c.5502G>A (p.Leu1834=) c.3012G>A (p.Leu1004=) n.6927G>A | dbSNP |
10 | g.71793417G>C | CA137535 | CDH23 | c.6489G>C (p.Leu2163=) c.6504G>C (p.Leu2168=) c.6684G>C (p.Leu2228=) c.6618G>C (p.Leu2206=) c.6681G>C (p.Leu2227=) c.6678G>C (p.Leu2226=) c.6624G>C (p.Leu2208=) c.6594G>C (p.Leu2198=) c.6549G>C (p.Leu2183=) c.6144G>C (p.Leu2048=) c.5502G>C (p.Leu1834=) c.3012G>C (p.Leu1004=) n.6927G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793417G= | CA1918874451 | CDH23 | c.6489G= (p.Leu2163=) c.6504G= (p.Leu2168=) c.6684G= (p.Leu2228=) c.6618G= (p.Leu2206=) c.6681G= (p.Leu2227=) c.6678G= (p.Leu2226=) c.6624G= (p.Leu2208=) c.6594G= (p.Leu2198=) c.6549G= (p.Leu2183=) c.6144G= (p.Leu2048=) c.5502G= (p.Leu1834=) c.3012G= (p.Leu1004=) n.6927G= | |
10 | g.71793417G>T | CA2522241149 | CDH23 | c.6489G>T (p.Leu2163=) c.6504G>T (p.Leu2168=) c.6684G>T (p.Leu2228=) c.6618G>T (p.Leu2206=) c.6681G>T (p.Leu2227=) c.6678G>T (p.Leu2226=) c.6624G>T (p.Leu2208=) c.6594G>T (p.Leu2198=) c.6549G>T (p.Leu2183=) c.6144G>T (p.Leu2048=) c.5502G>T (p.Leu1834=) c.3012G>T (p.Leu1004=) n.6927G>T | |
10 | g.71793418A>C | CA377155174 | CDH23 | c.6490A>C (p.Ile2164Leu) c.6505A>C (p.Ile2169Leu) c.6685A>C (p.Ile2229Leu) c.6619A>C (p.Ile2207Leu) c.6682A>C (p.Ile2228Leu) c.6679A>C (p.Ile2227Leu) c.6625A>C (p.Ile2209Leu) c.6595A>C (p.Ile2199Leu) c.6550A>C (p.Ile2184Leu) c.6145A>C (p.Ile2049Leu) c.5503A>C (p.Ile1835Leu) c.3013A>C (p.Ile1005Leu) n.6928A>C | |
10 | g.71793418A>G | CA377155173 | CDH23 | c.6490A>G (p.Ile2164Val) c.6505A>G (p.Ile2169Val) c.6685A>G (p.Ile2229Val) c.6619A>G (p.Ile2207Val) c.6682A>G (p.Ile2228Val) c.6679A>G (p.Ile2227Val) c.6625A>G (p.Ile2209Val) c.6595A>G (p.Ile2199Val) c.6550A>G (p.Ile2184Val) c.6145A>G (p.Ile2049Val) c.5503A>G (p.Ile1835Val) c.3013A>G (p.Ile1005Val) n.6928A>G | |
10 | g.71793418A>T | CA377155172 | CDH23 | c.6490A>T (p.Ile2164Phe) c.6505A>T (p.Ile2169Phe) c.6685A>T (p.Ile2229Phe) c.6619A>T (p.Ile2207Phe) c.6682A>T (p.Ile2228Phe) c.6679A>T (p.Ile2227Phe) c.6625A>T (p.Ile2209Phe) c.6595A>T (p.Ile2199Phe) c.6550A>T (p.Ile2184Phe) c.6145A>T (p.Ile2049Phe) c.5503A>T (p.Ile1835Phe) c.3013A>T (p.Ile1005Phe) n.6928A>T | |
10 | g.71793419T>A | CA377155175 | CDH23 | c.6491T>A (p.Ile2164Asn) c.6506T>A (p.Ile2169Asn) c.6686T>A (p.Ile2229Asn) c.6620T>A (p.Ile2207Asn) c.6683T>A (p.Ile2228Asn) c.6680T>A (p.Ile2227Asn) c.6626T>A (p.Ile2209Asn) c.6596T>A (p.Ile2199Asn) c.6551T>A (p.Ile2184Asn) c.6146T>A (p.Ile2049Asn) c.5504T>A (p.Ile1835Asn) c.3014T>A (p.Ile1005Asn) n.6929T>A | |
10 | g.71793419T>C | CA377155176 | CDH23 | c.6491T>C (p.Ile2164Thr) c.6506T>C (p.Ile2169Thr) c.6686T>C (p.Ile2229Thr) c.6620T>C (p.Ile2207Thr) c.6683T>C (p.Ile2228Thr) c.6680T>C (p.Ile2227Thr) c.6626T>C (p.Ile2209Thr) c.6596T>C (p.Ile2199Thr) c.6551T>C (p.Ile2184Thr) c.6146T>C (p.Ile2049Thr) c.5504T>C (p.Ile1835Thr) c.3014T>C (p.Ile1005Thr) n.6929T>C | dbSNP |
10 | g.71793419T>G | CA377155177 | CDH23 | c.6491T>G (p.Ile2164Ser) c.6506T>G (p.Ile2169Ser) c.6686T>G (p.Ile2229Ser) c.6620T>G (p.Ile2207Ser) c.6683T>G (p.Ile2228Ser) c.6680T>G (p.Ile2227Ser) c.6626T>G (p.Ile2209Ser) c.6596T>G (p.Ile2199Ser) c.6551T>G (p.Ile2184Ser) c.6146T>G (p.Ile2049Ser) c.5504T>G (p.Ile1835Ser) c.3014T>G (p.Ile1005Ser) n.6929T>G | |
10 | g.71793419T= | CA1918874454 | CDH23 | c.6491T= (p.Ile2164=) c.6506T= (p.Ile2169=) c.6686T= (p.Ile2229=) c.6620T= (p.Ile2207=) c.6683T= (p.Ile2228=) c.6680T= (p.Ile2227=) c.6626T= (p.Ile2209=) c.6596T= (p.Ile2199=) c.6551T= (p.Ile2184=) c.6146T= (p.Ile2049=) c.5504T= (p.Ile1835=) c.3014T= (p.Ile1005=) n.6929T= | |
10 | g.71793420C>A | CA2580946650 | CDH23 | c.6492C>A (p.Ile2164=) c.6507C>A (p.Ile2169=) c.6687C>A (p.Ile2229=) c.6621C>A (p.Ile2207=) c.6684C>A (p.Ile2228=) c.6681C>A (p.Ile2227=) c.6627C>A (p.Ile2209=) c.6597C>A (p.Ile2199=) c.6552C>A (p.Ile2184=) c.6147C>A (p.Ile2049=) c.5505C>A (p.Ile1835=) c.3015C>A (p.Ile1005=) n.6930C>A | dbSNP |
10 | g.71793420C= | CA1918874458 | CDH23 | c.6492C= (p.Ile2164=) c.6507C= (p.Ile2169=) c.6687C= (p.Ile2229=) c.6621C= (p.Ile2207=) c.6684C= (p.Ile2228=) c.6681C= (p.Ile2227=) c.6627C= (p.Ile2209=) c.6597C= (p.Ile2199=) c.6552C= (p.Ile2184=) c.6147C= (p.Ile2049=) c.5505C= (p.Ile1835=) c.3015C= (p.Ile1005=) n.6930C= | |
10 | g.71793420C>G | CA377155178 | CDH23 | c.6492C>G (p.Ile2164Met) c.6507C>G (p.Ile2169Met) c.6687C>G (p.Ile2229Met) c.6621C>G (p.Ile2207Met) c.6684C>G (p.Ile2228Met) c.6681C>G (p.Ile2227Met) c.6627C>G (p.Ile2209Met) c.6597C>G (p.Ile2199Met) c.6552C>G (p.Ile2184Met) c.6147C>G (p.Ile2049Met) c.5505C>G (p.Ile1835Met) c.3015C>G (p.Ile1005Met) n.6930C>G | gnomAD v4 |
10 | g.71793420C>T | CA137537 | CDH23 | c.6492C>T (p.Ile2164=) c.6507C>T (p.Ile2169=) c.6687C>T (p.Ile2229=) c.6621C>T (p.Ile2207=) c.6684C>T (p.Ile2228=) c.6681C>T (p.Ile2227=) c.6627C>T (p.Ile2209=) c.6597C>T (p.Ile2199=) c.6552C>T (p.Ile2184=) c.6147C>T (p.Ile2049=) c.5505C>T (p.Ile1835=) c.3015C>T (p.Ile1005=) n.6930C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793421G>A | CA5546094 | CDH23 | c.6493G>A (p.Asp2165Asn) c.6508G>A (p.Asp2170Asn) c.6688G>A (p.Asp2230Asn) c.6622G>A (p.Asp2208Asn) c.6685G>A (p.Asp2229Asn) c.6682G>A (p.Asp2228Asn) c.6628G>A (p.Asp2210Asn) c.6598G>A (p.Asp2200Asn) c.6553G>A (p.Asp2185Asn) c.6148G>A (p.Asp2050Asn) c.5506G>A (p.Asp1836Asn) c.3016G>A (p.Asp1006Asn) n.6931G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793421G>C | CA377155179 | CDH23 | c.6493G>C (p.Asp2165His) c.6508G>C (p.Asp2170His) c.6688G>C (p.Asp2230His) c.6622G>C (p.Asp2208His) c.6685G>C (p.Asp2229His) c.6682G>C (p.Asp2228His) c.6628G>C (p.Asp2210His) c.6598G>C (p.Asp2200His) c.6553G>C (p.Asp2185His) c.6148G>C (p.Asp2050His) c.5506G>C (p.Asp1836His) c.3016G>C (p.Asp1006His) n.6931G>C | gnomAD v4 |
10 | g.71793421G= | CA1918874461 | CDH23 | c.6493G= (p.Asp2165=) c.6508G= (p.Asp2170=) c.6688G= (p.Asp2230=) c.6622G= (p.Asp2208=) c.6685G= (p.Asp2229=) c.6682G= (p.Asp2228=) c.6628G= (p.Asp2210=) c.6598G= (p.Asp2200=) c.6553G= (p.Asp2185=) c.6148G= (p.Asp2050=) c.5506G= (p.Asp1836=) c.3016G= (p.Asp1006=) n.6931G= | |
10 | g.71793421G>T | CA377155180 | CDH23 | c.6493G>T (p.Asp2165Tyr) c.6508G>T (p.Asp2170Tyr) c.6688G>T (p.Asp2230Tyr) c.6622G>T (p.Asp2208Tyr) c.6685G>T (p.Asp2229Tyr) c.6682G>T (p.Asp2228Tyr) c.6628G>T (p.Asp2210Tyr) c.6598G>T (p.Asp2200Tyr) c.6553G>T (p.Asp2185Tyr) c.6148G>T (p.Asp2050Tyr) c.5506G>T (p.Asp1836Tyr) c.3016G>T (p.Asp1006Tyr) n.6931G>T | gnomAD v4 |
10 | g.71793422A>C | CA377155181 | CDH23 | c.6494A>C (p.Asp2165Ala) c.6509A>C (p.Asp2170Ala) c.6689A>C (p.Asp2230Ala) c.6623A>C (p.Asp2208Ala) c.6686A>C (p.Asp2229Ala) c.6683A>C (p.Asp2228Ala) c.6629A>C (p.Asp2210Ala) c.6599A>C (p.Asp2200Ala) c.6554A>C (p.Asp2185Ala) c.6149A>C (p.Asp2050Ala) c.5507A>C (p.Asp1836Ala) c.3017A>C (p.Asp1006Ala) n.6932A>C | |
10 | g.71793422A>G | CA377155182 | CDH23 | c.6494A>G (p.Asp2165Gly) c.6509A>G (p.Asp2170Gly) c.6689A>G (p.Asp2230Gly) c.6623A>G (p.Asp2208Gly) c.6686A>G (p.Asp2229Gly) c.6683A>G (p.Asp2228Gly) c.6629A>G (p.Asp2210Gly) c.6599A>G (p.Asp2200Gly) c.6554A>G (p.Asp2185Gly) c.6149A>G (p.Asp2050Gly) c.5507A>G (p.Asp1836Gly) c.3017A>G (p.Asp1006Gly) n.6932A>G | gnomAD v4 COSMIC |
10 | g.71793422A>T | CA377155183 | CDH23 | c.6494A>T (p.Asp2165Val) c.6509A>T (p.Asp2170Val) c.6689A>T (p.Asp2230Val) c.6623A>T (p.Asp2208Val) c.6686A>T (p.Asp2229Val) c.6683A>T (p.Asp2228Val) c.6629A>T (p.Asp2210Val) c.6599A>T (p.Asp2200Val) c.6554A>T (p.Asp2185Val) c.6149A>T (p.Asp2050Val) c.5507A>T (p.Asp1836Val) c.3017A>T (p.Asp1006Val) n.6932A>T | |
10 | g.71793423T>A | CA377155184 | CDH23 | c.6495T>A (p.Asp2165Glu) c.6510T>A (p.Asp2170Glu) c.6690T>A (p.Asp2230Glu) c.6624T>A (p.Asp2208Glu) c.6687T>A (p.Asp2229Glu) c.6684T>A (p.Asp2228Glu) c.6630T>A (p.Asp2210Glu) c.6600T>A (p.Asp2200Glu) c.6555T>A (p.Asp2185Glu) c.6150T>A (p.Asp2050Glu) c.5508T>A (p.Asp1836Glu) c.3018T>A (p.Asp1006Glu) n.6933T>A | gnomAD v4 |
10 | g.71793423T>C | CA2499220352 | CDH23 | c.6495T>C (p.Asp2165=) c.6510T>C (p.Asp2170=) c.6690T>C (p.Asp2230=) c.6624T>C (p.Asp2208=) c.6687T>C (p.Asp2229=) c.6684T>C (p.Asp2228=) c.6630T>C (p.Asp2210=) c.6600T>C (p.Asp2200=) c.6555T>C (p.Asp2185=) c.6150T>C (p.Asp2050=) c.5508T>C (p.Asp1836=) c.3018T>C (p.Asp1006=) n.6933T>C | ClinVar dbSNP |
10 | g.71793423T>G | CA377155185 | CDH23 | c.6495T>G (p.Asp2165Glu) c.6510T>G (p.Asp2170Glu) c.6690T>G (p.Asp2230Glu) c.6624T>G (p.Asp2208Glu) c.6687T>G (p.Asp2229Glu) c.6684T>G (p.Asp2228Glu) c.6630T>G (p.Asp2210Glu) c.6600T>G (p.Asp2200Glu) c.6555T>G (p.Asp2185Glu) c.6150T>G (p.Asp2050Glu) c.5508T>G (p.Asp1836Glu) c.3018T>G (p.Asp1006Glu) n.6933T>G | |
10 | g.71793424G>A | CA377155187 | CDH23 | c.6496G>A (p.Asp2166Asn) c.6511G>A (p.Asp2171Asn) c.6691G>A (p.Asp2231Asn) c.6625G>A (p.Asp2209Asn) c.6688G>A (p.Asp2230Asn) c.6685G>A (p.Asp2229Asn) c.6631G>A (p.Asp2211Asn) c.6601G>A (p.Asp2201Asn) c.6556G>A (p.Asp2186Asn) c.6151G>A (p.Asp2051Asn) c.5509G>A (p.Asp1837Asn) c.3019G>A (p.Asp1007Asn) n.6934G>A | |
10 | g.71793424G>C | CA377155188 | CDH23 | c.6496G>C (p.Asp2166His) c.6511G>C (p.Asp2171His) c.6691G>C (p.Asp2231His) c.6625G>C (p.Asp2209His) c.6688G>C (p.Asp2230His) c.6685G>C (p.Asp2229His) c.6631G>C (p.Asp2211His) c.6601G>C (p.Asp2201His) c.6556G>C (p.Asp2186His) c.6151G>C (p.Asp2051His) c.5509G>C (p.Asp1837His) c.3019G>C (p.Asp1007His) n.6934G>C | |
10 | g.71793424G>T | CA377155186 | CDH23 | c.6496G>T (p.Asp2166Tyr) c.6511G>T (p.Asp2171Tyr) c.6691G>T (p.Asp2231Tyr) c.6625G>T (p.Asp2209Tyr) c.6688G>T (p.Asp2230Tyr) c.6685G>T (p.Asp2229Tyr) c.6631G>T (p.Asp2211Tyr) c.6601G>T (p.Asp2201Tyr) c.6556G>T (p.Asp2186Tyr) c.6151G>T (p.Asp2051Tyr) c.5509G>T (p.Asp1837Tyr) c.3019G>T (p.Asp1007Tyr) n.6934G>T | gnomAD v4 |
10 | g.71793425A>C | CA377155189 | CDH23 | c.6497A>C (p.Asp2166Ala) c.6512A>C (p.Asp2171Ala) c.6692A>C (p.Asp2231Ala) c.6626A>C (p.Asp2209Ala) c.6689A>C (p.Asp2230Ala) c.6686A>C (p.Asp2229Ala) c.6632A>C (p.Asp2211Ala) c.6602A>C (p.Asp2201Ala) c.6557A>C (p.Asp2186Ala) c.6152A>C (p.Asp2051Ala) c.5510A>C (p.Asp1837Ala) c.3020A>C (p.Asp1007Ala) n.6935A>C | |
10 | g.71793425A>G | CA377155191 | CDH23 | c.6497A>G (p.Asp2166Gly) c.6512A>G (p.Asp2171Gly) c.6692A>G (p.Asp2231Gly) c.6626A>G (p.Asp2209Gly) c.6689A>G (p.Asp2230Gly) c.6686A>G (p.Asp2229Gly) c.6632A>G (p.Asp2211Gly) c.6602A>G (p.Asp2201Gly) c.6557A>G (p.Asp2186Gly) c.6152A>G (p.Asp2051Gly) c.5510A>G (p.Asp1837Gly) c.3020A>G (p.Asp1007Gly) n.6935A>G | |
10 | g.71793425A>T | CA377155190 | CDH23 | c.6497A>T (p.Asp2166Val) c.6512A>T (p.Asp2171Val) c.6692A>T (p.Asp2231Val) c.6626A>T (p.Asp2209Val) c.6689A>T (p.Asp2230Val) c.6686A>T (p.Asp2229Val) c.6632A>T (p.Asp2211Val) c.6602A>T (p.Asp2201Val) c.6557A>T (p.Asp2186Val) c.6152A>T (p.Asp2051Val) c.5510A>T (p.Asp1837Val) c.3020A>T (p.Asp1007Val) n.6935A>T | |
10 | g.71793426C>A | CA377155192 | CDH23 | c.6498C>A (p.Asp2166Glu) c.6513C>A (p.Asp2171Glu) c.6693C>A (p.Asp2231Glu) c.6627C>A (p.Asp2209Glu) c.6690C>A (p.Asp2230Glu) c.6687C>A (p.Asp2229Glu) c.6633C>A (p.Asp2211Glu) c.6603C>A (p.Asp2201Glu) c.6558C>A (p.Asp2186Glu) c.6153C>A (p.Asp2051Glu) c.5511C>A (p.Asp1837Glu) c.3021C>A (p.Asp1007Glu) n.6936C>A | |
10 | g.71793426C= | CA1918874464 | CDH23 | c.6498C= (p.Asp2166=) c.6513C= (p.Asp2171=) c.6693C= (p.Asp2231=) c.6627C= (p.Asp2209=) c.6690C= (p.Asp2230=) c.6687C= (p.Asp2229=) c.6633C= (p.Asp2211=) c.6603C= (p.Asp2201=) c.6558C= (p.Asp2186=) c.6153C= (p.Asp2051=) c.5511C= (p.Asp1837=) c.3021C= (p.Asp1007=) n.6936C= | |
10 | g.71793426C>G | CA377155193 | CDH23 | c.6498C>G (p.Asp2166Glu) c.6513C>G (p.Asp2171Glu) c.6693C>G (p.Asp2231Glu) c.6627C>G (p.Asp2209Glu) c.6690C>G (p.Asp2230Glu) c.6687C>G (p.Asp2229Glu) c.6633C>G (p.Asp2211Glu) c.6603C>G (p.Asp2201Glu) c.6558C>G (p.Asp2186Glu) c.6153C>G (p.Asp2051Glu) c.5511C>G (p.Asp1837Glu) c.3021C>G (p.Asp1007Glu) n.6936C>G | |
10 | g.71793426C>T | CA1918874465 | CDH23 | c.6498C>T (p.Asp2166=) c.6513C>T (p.Asp2171=) c.6693C>T (p.Asp2231=) c.6627C>T (p.Asp2209=) c.6690C>T (p.Asp2230=) c.6687C>T (p.Asp2229=) c.6633C>T (p.Asp2211=) c.6603C>T (p.Asp2201=) c.6558C>T (p.Asp2186=) c.6153C>T (p.Asp2051=) c.5511C>T (p.Asp1837=) c.3021C>T (p.Asp1007=) n.6936C>T | dbSNP |
10 | g.71793427A= | CA1918874467 | CDH23 | c.6499A= (p.Ile2167=) c.6514A= (p.Ile2172=) c.6694A= (p.Ile2232=) c.6628A= (p.Ile2210=) c.6691A= (p.Ile2231=) c.6688A= (p.Ile2230=) c.6634A= (p.Ile2212=) c.6604A= (p.Ile2202=) c.6559A= (p.Ile2187=) c.6154A= (p.Ile2052=) c.5512A= (p.Ile1838=) c.3022A= (p.Ile1008=) n.6937A= | |
10 | g.71793427A>C | CA377155194 | CDH23 | c.6499A>C (p.Ile2167Leu) c.6514A>C (p.Ile2172Leu) c.6694A>C (p.Ile2232Leu) c.6628A>C (p.Ile2210Leu) c.6691A>C (p.Ile2231Leu) c.6688A>C (p.Ile2230Leu) c.6634A>C (p.Ile2212Leu) c.6604A>C (p.Ile2202Leu) c.6559A>C (p.Ile2187Leu) c.6154A>C (p.Ile2052Leu) c.5512A>C (p.Ile1838Leu) c.3022A>C (p.Ile1008Leu) n.6937A>C | ClinVar gnomAD v4 |
10 | g.71793427A>G | CA377155195 | CDH23 | c.6499A>G (p.Ile2167Val) c.6514A>G (p.Ile2172Val) c.6694A>G (p.Ile2232Val) c.6628A>G (p.Ile2210Val) c.6691A>G (p.Ile2231Val) c.6688A>G (p.Ile2230Val) c.6634A>G (p.Ile2212Val) c.6604A>G (p.Ile2202Val) c.6559A>G (p.Ile2187Val) c.6154A>G (p.Ile2052Val) c.5512A>G (p.Ile1838Val) c.3022A>G (p.Ile1008Val) n.6937A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71793427A>T | CA377155196 | CDH23 | c.6499A>T (p.Ile2167Phe) c.6514A>T (p.Ile2172Phe) c.6694A>T (p.Ile2232Phe) c.6628A>T (p.Ile2210Phe) c.6691A>T (p.Ile2231Phe) c.6688A>T (p.Ile2230Phe) c.6634A>T (p.Ile2212Phe) c.6604A>T (p.Ile2202Phe) c.6559A>T (p.Ile2187Phe) c.6154A>T (p.Ile2052Phe) c.5512A>T (p.Ile1838Phe) c.3022A>T (p.Ile1008Phe) n.6937A>T | |
10 | g.71793428T>A | CA377155197 | CDH23 | c.6500T>A (p.Ile2167Asn) c.6515T>A (p.Ile2172Asn) c.6695T>A (p.Ile2232Asn) c.6629T>A (p.Ile2210Asn) c.6692T>A (p.Ile2231Asn) c.6689T>A (p.Ile2230Asn) c.6635T>A (p.Ile2212Asn) c.6605T>A (p.Ile2202Asn) c.6560T>A (p.Ile2187Asn) c.6155T>A (p.Ile2052Asn) c.5513T>A (p.Ile1838Asn) c.3023T>A (p.Ile1008Asn) n.6938T>A | |
10 | g.71793428T>C | CA377155198 | CDH23 | c.6500T>C (p.Ile2167Thr) c.6515T>C (p.Ile2172Thr) c.6695T>C (p.Ile2232Thr) c.6629T>C (p.Ile2210Thr) c.6692T>C (p.Ile2231Thr) c.6689T>C (p.Ile2230Thr) c.6635T>C (p.Ile2212Thr) c.6605T>C (p.Ile2202Thr) c.6560T>C (p.Ile2187Thr) c.6155T>C (p.Ile2052Thr) c.5513T>C (p.Ile1838Thr) c.3023T>C (p.Ile1008Thr) n.6938T>C | COSMIC |
10 | g.71793428T>G | CA377155199 | CDH23 | c.6500T>G (p.Ile2167Ser) c.6515T>G (p.Ile2172Ser) c.6695T>G (p.Ile2232Ser) c.6629T>G (p.Ile2210Ser) c.6692T>G (p.Ile2231Ser) c.6689T>G (p.Ile2230Ser) c.6635T>G (p.Ile2212Ser) c.6605T>G (p.Ile2202Ser) c.6560T>G (p.Ile2187Ser) c.6155T>G (p.Ile2052Ser) c.5513T>G (p.Ile1838Ser) c.3023T>G (p.Ile1008Ser) n.6938T>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71793428T= | CA1918874469 | CDH23 | c.6500T= (p.Ile2167=) c.6515T= (p.Ile2172=) c.6695T= (p.Ile2232=) c.6629T= (p.Ile2210=) c.6692T= (p.Ile2231=) c.6689T= (p.Ile2230=) c.6635T= (p.Ile2212=) c.6605T= (p.Ile2202=) c.6560T= (p.Ile2187=) c.6155T= (p.Ile2052=) c.5513T= (p.Ile1838=) c.3023T= (p.Ile1008=) n.6938T= | |
10 | g.71793429C>A | CA2697558463 | CDH23 | c.6501C>A (p.Ile2167=) c.6516C>A (p.Ile2172=) c.6696C>A (p.Ile2232=) c.6630C>A (p.Ile2210=) c.6693C>A (p.Ile2231=) c.6690C>A (p.Ile2230=) c.6636C>A (p.Ile2212=) c.6606C>A (p.Ile2202=) c.6561C>A (p.Ile2187=) c.6156C>A (p.Ile2052=) c.5514C>A (p.Ile1838=) c.3024C>A (p.Ile1008=) n.6939C>A | ClinVar |
10 | g.71793429C>G | CA377155200 | CDH23 | c.6501C>G (p.Ile2167Met) c.6516C>G (p.Ile2172Met) c.6696C>G (p.Ile2232Met) c.6630C>G (p.Ile2210Met) c.6693C>G (p.Ile2231Met) c.6690C>G (p.Ile2230Met) c.6636C>G (p.Ile2212Met) c.6606C>G (p.Ile2202Met) c.6561C>G (p.Ile2187Met) c.6156C>G (p.Ile2052Met) c.5514C>G (p.Ile1838Met) c.3024C>G (p.Ile1008Met) n.6939C>G | |
10 | g.71793430A= | CA1918874472 | CDH23 | c.6502A= (p.Asn2168=) c.6517A= (p.Asn2173=) c.6697A= (p.Asn2233=) c.6631A= (p.Asn2211=) c.6694A= (p.Asn2232=) c.6691A= (p.Asn2231=) c.6637A= (p.Asn2213=) c.6607A= (p.Asn2203=) c.6562A= (p.Asn2188=) c.6157A= (p.Asn2053=) c.5515A= (p.Asn1839=) c.3025A= (p.Asn1009=) n.6940A= | |
10 | g.71793430A>C | CA377155201 | CDH23 | c.6502A>C (p.Asn2168His) c.6517A>C (p.Asn2173His) c.6697A>C (p.Asn2233His) c.6631A>C (p.Asn2211His) c.6694A>C (p.Asn2232His) c.6691A>C (p.Asn2231His) c.6637A>C (p.Asn2213His) c.6607A>C (p.Asn2203His) c.6562A>C (p.Asn2188His) c.6157A>C (p.Asn2053His) c.5515A>C (p.Asn1839His) c.3025A>C (p.Asn1009His) n.6940A>C | dbSNP |
10 | g.71793430A>G | CA377155202 | CDH23 | c.6502A>G (p.Asn2168Asp) c.6517A>G (p.Asn2173Asp) c.6697A>G (p.Asn2233Asp) c.6631A>G (p.Asn2211Asp) c.6694A>G (p.Asn2232Asp) c.6691A>G (p.Asn2231Asp) c.6637A>G (p.Asn2213Asp) c.6607A>G (p.Asn2203Asp) c.6562A>G (p.Asn2188Asp) c.6157A>G (p.Asn2053Asp) c.5515A>G (p.Asn1839Asp) c.3025A>G (p.Asn1009Asp) n.6940A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71793430A>T | CA377155203 | CDH23 | c.6502A>T (p.Asn2168Tyr) c.6517A>T (p.Asn2173Tyr) c.6697A>T (p.Asn2233Tyr) c.6631A>T (p.Asn2211Tyr) c.6694A>T (p.Asn2232Tyr) c.6691A>T (p.Asn2231Tyr) c.6637A>T (p.Asn2213Tyr) c.6607A>T (p.Asn2203Tyr) c.6562A>T (p.Asn2188Tyr) c.6157A>T (p.Asn2053Tyr) c.5515A>T (p.Asn1839Tyr) c.3025A>T (p.Asn1009Tyr) n.6940A>T | |
10 | g.71793431A= | CA1918874475 | CDH23 | c.6503A= (p.Asn2168=) c.6518A= (p.Asn2173=) c.6698A= (p.Asn2233=) c.6632A= (p.Asn2211=) c.6695A= (p.Asn2232=) c.6692A= (p.Asn2231=) c.6638A= (p.Asn2213=) c.6608A= (p.Asn2203=) c.6563A= (p.Asn2188=) c.6158A= (p.Asn2053=) c.5516A= (p.Asn1839=) c.3026A= (p.Asn1009=) n.6941A= | |
10 | g.71793431A>C | CA377155205 | CDH23 | c.6503A>C (p.Asn2168Thr) c.6518A>C (p.Asn2173Thr) c.6698A>C (p.Asn2233Thr) c.6632A>C (p.Asn2211Thr) c.6695A>C (p.Asn2232Thr) c.6692A>C (p.Asn2231Thr) c.6638A>C (p.Asn2213Thr) c.6608A>C (p.Asn2203Thr) c.6563A>C (p.Asn2188Thr) c.6158A>C (p.Asn2053Thr) c.5516A>C (p.Asn1839Thr) c.3026A>C (p.Asn1009Thr) n.6941A>C | |
10 | g.71793431A>G | CA209466204 | CDH23 | c.6503A>G (p.Asn2168Ser) c.6518A>G (p.Asn2173Ser) c.6698A>G (p.Asn2233Ser) c.6632A>G (p.Asn2211Ser) c.6695A>G (p.Asn2232Ser) c.6692A>G (p.Asn2231Ser) c.6638A>G (p.Asn2213Ser) c.6608A>G (p.Asn2203Ser) c.6563A>G (p.Asn2188Ser) c.6158A>G (p.Asn2053Ser) c.5516A>G (p.Asn1839Ser) c.3026A>G (p.Asn1009Ser) n.6941A>G | dbSNP gnomAD v4 |
10 | g.71793431A>T | CA377155204 | CDH23 | c.6503A>T (p.Asn2168Ile) c.6518A>T (p.Asn2173Ile) c.6698A>T (p.Asn2233Ile) c.6632A>T (p.Asn2211Ile) c.6695A>T (p.Asn2232Ile) c.6692A>T (p.Asn2231Ile) c.6638A>T (p.Asn2213Ile) c.6608A>T (p.Asn2203Ile) c.6563A>T (p.Asn2188Ile) c.6158A>T (p.Asn2053Ile) c.5516A>T (p.Asn1839Ile) c.3026A>T (p.Asn1009Ile) n.6941A>T |