Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71793326A>CCA377154776CDH23c.6398A>C (p.Asp2133Ala)
c.6413A>C (p.Asp2138Ala)
c.6593A>C (p.Asp2198Ala)
c.6527A>C (p.Asp2176Ala)
c.6590A>C (p.Asp2197Ala)
c.6587A>C (p.Asp2196Ala)
c.6533A>C (p.Asp2178Ala)
c.6577+16A>C (n.6577+16A>C)
c.6458A>C (p.Asp2153Ala)
c.6053A>C (p.Asp2018Ala)
c.5411A>C (p.Asp1804Ala)
c.2921A>C (p.Asp974Ala)
n.6836A>C
10g.71793326A>GCA377154767CDH23c.6398A>G (p.Asp2133Gly)
c.6413A>G (p.Asp2138Gly)
c.6593A>G (p.Asp2198Gly)
c.6527A>G (p.Asp2176Gly)
c.6590A>G (p.Asp2197Gly)
c.6587A>G (p.Asp2196Gly)
c.6533A>G (p.Asp2178Gly)
c.6577+16A>G (n.6577+16A>G)
c.6458A>G (p.Asp2153Gly)
c.6053A>G (p.Asp2018Gly)
c.5411A>G (p.Asp1804Gly)
c.2921A>G (p.Asp974Gly)
n.6836A>G
10g.71793326A>TCA377154764CDH23c.6398A>T (p.Asp2133Val)
c.6413A>T (p.Asp2138Val)
c.6593A>T (p.Asp2198Val)
c.6527A>T (p.Asp2176Val)
c.6590A>T (p.Asp2197Val)
c.6587A>T (p.Asp2196Val)
c.6533A>T (p.Asp2178Val)
c.6577+16A>T (n.6577+16A>T)
c.6458A>T (p.Asp2153Val)
c.6053A>T (p.Asp2018Val)
c.5411A>T (p.Asp1804Val)
c.2921A>T (p.Asp974Val)
n.6836A>T
10g.71793327C>ACA377154783CDH23c.6399C>A (p.Asp2133Glu)
c.6414C>A (p.Asp2138Glu)
c.6594C>A (p.Asp2198Glu)
c.6528C>A (p.Asp2176Glu)
c.6591C>A (p.Asp2197Glu)
c.6588C>A (p.Asp2196Glu)
c.6534C>A (p.Asp2178Glu)
c.6577+17C>A (n.6577+17C>A)
c.6459C>A (p.Asp2153Glu)
c.6054C>A (p.Asp2018Glu)
c.5412C>A (p.Asp1804Glu)
c.2922C>A (p.Asp974Glu)
n.6837C>A
10g.71793327C>GCA377154780CDH23c.6399C>G (p.Asp2133Glu)
c.6414C>G (p.Asp2138Glu)
c.6594C>G (p.Asp2198Glu)
c.6528C>G (p.Asp2176Glu)
c.6591C>G (p.Asp2197Glu)
c.6588C>G (p.Asp2196Glu)
c.6534C>G (p.Asp2178Glu)
c.6577+17C>G (n.6577+17C>G)
c.6459C>G (p.Asp2153Glu)
c.6054C>G (p.Asp2018Glu)
c.5412C>G (p.Asp1804Glu)
c.2922C>G (p.Asp974Glu)
n.6837C>G
10g.71793327C>TCA2573145264CDH23c.6399C>T (p.Asp2133=)
c.6414C>T (p.Asp2138=)
c.6594C>T (p.Asp2198=)
c.6528C>T (p.Asp2176=)
c.6591C>T (p.Asp2197=)
c.6588C>T (p.Asp2196=)
c.6534C>T (p.Asp2178=)
c.6577+17C>T (n.6577+17C>T)
c.6459C>T (p.Asp2153=)
c.6054C>T (p.Asp2018=)
c.5412C>T (p.Asp1804=)
c.2922C>T (p.Asp974=)
n.6837C>T
 ClinVar dbSNP
10g.71793327_71793331delinsCAGAGCA1918874263CDH23c.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
10g.71793328A=CA1918874265CDH23c.6400A= (p.Arg2134=)
c.6415A= (p.Arg2139=)
c.6595A= (p.Arg2199=)
c.6529A= (p.Arg2177=)
c.6592A= (p.Arg2198=)
c.6589A= (p.Arg2197=)
c.6535A= (p.Arg2179=)
c.6577+18A= (n.6577+18A=)
c.6460A= (p.Arg2154=)
c.6055A= (p.Arg2019=)
c.5413A= (p.Arg1805=)
c.2923A= (p.Arg975=)
n.6838A=
10g.71793328A>GCA5546071CDH23c.6400A>G (p.Arg2134Gly)
c.6415A>G (p.Arg2139Gly)
c.6595A>G (p.Arg2199Gly)
c.6529A>G (p.Arg2177Gly)
c.6592A>G (p.Arg2198Gly)
c.6589A>G (p.Arg2197Gly)
c.6535A>G (p.Arg2179Gly)
c.6577+18A>G (n.6577+18A>G)
c.6460A>G (p.Arg2154Gly)
c.6055A>G (p.Arg2019Gly)
c.5413A>G (p.Arg1805Gly)
c.2923A>G (p.Arg975Gly)
n.6838A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793328A>TCA377154789CDH23c.6400A>T (p.Arg2134Ter)
c.6415A>T (p.Arg2139Ter)
c.6595A>T (p.Arg2199Ter)
c.6529A>T (p.Arg2177Ter)
c.6592A>T (p.Arg2198Ter)
c.6589A>T (p.Arg2197Ter)
c.6535A>T (p.Arg2179Ter)
c.6577+18A>T (n.6577+18A>T)
c.6460A>T (p.Arg2154Ter)
c.6055A>T (p.Arg2019Ter)
c.5413A>T (p.Arg1805Ter)
c.2923A>T (p.Arg975Ter)
n.6838A>T
 dbSNP
10g.71793332_71793333delCA2609580497CDH23c.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
10g.71793330_71793333delCA10603042CDH23c.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
10g.71793329G>ACA377154796CDH23c.6401G>A (p.Arg2134Lys)
c.6416G>A (p.Arg2139Lys)
c.6596G>A (p.Arg2199Lys)
c.6530G>A (p.Arg2177Lys)
c.6593G>A (p.Arg2198Lys)
c.6590G>A (p.Arg2197Lys)
c.6536G>A (p.Arg2179Lys)
c.6577+19G>A (n.6577+19G>A)
c.6461G>A (p.Arg2154Lys)
c.6056G>A (p.Arg2019Lys)
c.5414G>A (p.Arg1805Lys)
c.2924G>A (p.Arg975Lys)
n.6839G>A
10g.71793329G>CCA377154802CDH23c.6401G>C (p.Arg2134Thr)
c.6416G>C (p.Arg2139Thr)
c.6596G>C (p.Arg2199Thr)
c.6530G>C (p.Arg2177Thr)
c.6593G>C (p.Arg2198Thr)
c.6590G>C (p.Arg2197Thr)
c.6536G>C (p.Arg2179Thr)
c.6577+19G>C (n.6577+19G>C)
c.6461G>C (p.Arg2154Thr)
c.6056G>C (p.Arg2019Thr)
c.5414G>C (p.Arg1805Thr)
c.2924G>C (p.Arg975Thr)
n.6839G>C
10g.71793329G>TCA377154805CDH23c.6401G>T (p.Arg2134Ile)
c.6416G>T (p.Arg2139Ile)
c.6596G>T (p.Arg2199Ile)
c.6530G>T (p.Arg2177Ile)
c.6593G>T (p.Arg2198Ile)
c.6590G>T (p.Arg2197Ile)
c.6536G>T (p.Arg2179Ile)
c.6577+19G>T (n.6577+19G>T)
c.6461G>T (p.Arg2154Ile)
c.6056G>T (p.Arg2019Ile)
c.5414G>T (p.Arg1805Ile)
c.2924G>T (p.Arg975Ile)
n.6839G>T
10g.71793330A>CCA377154809CDH23c.6402A>C (p.Arg2134Ser)
c.6417A>C (p.Arg2139Ser)
c.6597A>C (p.Arg2199Ser)
c.6531A>C (p.Arg2177Ser)
c.6594A>C (p.Arg2198Ser)
c.6591A>C (p.Arg2197Ser)
c.6537A>C (p.Arg2179Ser)
c.6577+20A>C (n.6577+20A>C)
c.6462A>C (p.Arg2154Ser)
c.6057A>C (p.Arg2019Ser)
c.5415A>C (p.Arg1805Ser)
c.2925A>C (p.Arg975Ser)
n.6840A>C
10g.71793330A>TCA377154813CDH23c.6402A>T (p.Arg2134Ser)
c.6417A>T (p.Arg2139Ser)
c.6597A>T (p.Arg2199Ser)
c.6531A>T (p.Arg2177Ser)
c.6594A>T (p.Arg2198Ser)
c.6591A>T (p.Arg2197Ser)
c.6537A>T (p.Arg2179Ser)
c.6577+20A>T (n.6577+20A>T)
c.6462A>T (p.Arg2154Ser)
c.6057A>T (p.Arg2019Ser)
c.5415A>T (p.Arg1805Ser)
c.2925A>T (p.Arg975Ser)
n.6840A>T
10g.71793331G>ACA377154817CDH23c.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
10g.71793331G>CCA377154819CDH23c.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
10g.71793331G>TCA377154827CDH23c.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
10g.71793332A=CA1918874267CDH23c.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=
10g.71793332A>CCA377154835CDH23c.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
10g.71793332A>GCA377154832CDH23c.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
10g.71793332A>TCA377154830CDH23c.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
10g.71793333G>ACA1918874269CDH23c.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
10g.71793333G>CCA377154839CDH23c.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
10g.71793333G=CA1918874268CDH23c.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=
10g.71793333G>TCA377154843CDH23c.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
10g.71793334G>ACA377154848CDH23c.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
10g.71793334G>CCA377154850CDH23c.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
10g.71793334G=CA1918874270CDH23c.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=
10g.71793334G>TCA209466073CDH23c.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
10g.71793335A>CCA377154852CDH23c.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
10g.71793335A>GCA377154856CDH23c.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
10g.71793335A>TCA377154857CDH23c.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
10g.71793336G>ACA2722285805CDH23c.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
10g.71793336G>CCA377154860CDH23c.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
10g.71793336G>TCA377154862CDH23c.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
10g.71793337C>ACA377154864CDH23c.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
10g.71793337C>GCA377154867CDH23c.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
10g.71793337C>TCA377154869CDH23c.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
10g.71793338A=CA1918874273CDH23c.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=
10g.71793338A>CCA209466075CDH23c.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
10g.71793338A>GCA377154882CDH23c.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
10g.71793338A>TCA377154872CDH23c.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
10g.71793338_71793339delinsAGCA1918874272CDH23c.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
10g.71793339G>ACA668108962CDH23c.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
10g.71793339G>CCA377154888CDH23c.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
10g.71793339G=CA1918874276CDH23c.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=
10g.71793339G>TCA209466076CDH23c.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
10g.71793340delCA261795CDH23c.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
10g.71793340G>ACA377154896CDH23c.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
10g.71793340G>CCA377154893CDH23c.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
10g.71793340G>TCA377154899CDH23c.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
10g.71793341A>CCA377154902CDH23c.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
10g.71793341A>GCA377154904CDH23c.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
10g.71793341A>TCA377154907CDH23c.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
10g.71793342G>ACA2722285850CDH23c.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
10g.71793342G>CCA377154910CDH23c.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
10g.71793342G>TCA377154912CDH23c.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
10g.71793343T>ACA377154917CDH23c.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
10g.71793343T>CCA377154920CDH23c.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
10g.71793343T>GCA377154923CDH23c.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
10g.71793344C>ACA377154925CDH23c.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
10g.71793344C=CA1918874277CDH23c.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=
10g.71793344C>GCA377154926CDH23c.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
10g.71793344C>TCA377154929CDH23c.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
10g.71793345C=CA1918874279CDH23c.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=
10g.71793345C>GCA209466082CDH23c.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
10g.71793345C>TCA5546072CDH23c.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
10g.71793346T>ACA377154933CDH23c.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
10g.71793346T>CCA377154937CDH23c.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
10g.71793346T>GCA377154936CDH23c.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
10g.71793346T=CA1918874281CDH23c.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=
10g.71793347A>CCA377154939CDH23c.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
10g.71793347A>GCA377154941CDH23c.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
10g.71793347A>TCA377154945CDH23c.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
10g.71793348C>ACA377154948CDH23c.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
10g.71793348C=CA1918874283CDH23c.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=
10g.71793348C>GCA5546073CDH23c.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
10g.71793348C>TCA2538860961CDH23c.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
10g.71793349A=CA1918874286CDH23c.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=
10g.71793349A>CCA1918874288CDH23c.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
10g.71793349A>GCA5546074CDH23c.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
10g.71793349A>TCA377154953CDH23c.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
10g.71793350G>ACA5546075CDH23c.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
10g.71793350G>CCA377154955CDH23c.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
10g.71793350G=CA1918874290CDH23c.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=
10g.71793350G>TCA209466097CDH23c.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
10g.71793351G>ACA929791334CDH23c.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
10g.71793351G>CCA5546076CDH23c.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
10g.71793351G=CA1918874292CDH23c.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=
10g.71793351G>TCA377154959CDH23c.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
10g.71793352C>ACA377154961CDH23c.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
10g.71793352C>GCA377154963CDH23c.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
10g.71793352C>TCA2722285895CDH23c.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
10g.71793353T>ACA377154965CDH23c.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
10g.71793353T>CCA377154967CDH23c.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
10g.71793353T>GCA377154969CDH23c.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
10g.71793353T=CA1918874294CDH23c.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=
10g.71793354A=CA1918874295CDH23c.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=
10g.71793354A>GCA137533CDH23c.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
10g.71793355A=CA1918874299CDH23c.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=
10g.71793355A>CCA5546077CDH23c.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
10g.71793355A>GCA377154971CDH23c.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
10g.71793355A>TCA377154973CDH23c.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
10g.71793356C>ACA377154975CDH23c.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
10g.71793356C=CA1918874302CDH23c.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=
10g.71793356C>GCA377154978CDH23c.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
10g.71793356C>TCA377154979CDH23c.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
10g.71793356_71793359delinsCGGTCA1918874301CDH23c.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
10g.71793357G>ACA5546078CDH23c.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
10g.71793357G=CA1918874306CDH23c.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=
10g.71793357G>TCA2609580574CDH23c.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
10g.71793362_71793364delCA594705921CDH23c.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
10g.71793358G>ACA377154984CDH23c.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
10g.71793358G>CCA377154981CDH23c.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
10g.71793358G>TCA377154982CDH23c.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
10g.71793359T>ACA377154986CDH23c.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
10g.71793359T>CCA377154988CDH23c.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
10g.71793359T>GCA377154989CDH23c.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
10g.71793360G>ACA2568050254CDH23c.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
10g.71793361G>ACA209466113CDH23c.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
10g.71793361G>CCA5546079CDH23c.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
10g.71793361G=CA1918874311CDH23c.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=
10g.71793361G>TCA377154991CDH23c.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
10g.71793361_71793390delinsGTGGCCACCGACCGGGGCACCGTTCCTCTCCA1918874313CDH23c.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
10g.71793362T>ACA377154993CDH23c.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
10g.71793362T>CCA377155001CDH23c.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
10g.71793362T>GCA209466144CDH23c.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
10g.71793362T=CA1918874317CDH23c.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=
10g.71793363_71793391delCA916083139CDH23c.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
10g.71793363G>ACA594705922CDH23c.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
10g.71793363G=CA1918874319CDH23c.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=
10g.71793364G>ACA377155003CDH23c.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
10g.71793364G>CCA377155006CDH23c.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
10g.71793364G>TCA377155008CDH23c.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
10g.71793365C>ACA377155020CDH23c.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
10g.71793365C>GCA377155018CDH23c.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
10g.71793365C>TCA377155017CDH23c.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
10g.71793366C>TCA2536611093CDH23c.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
10g.71793367A=CA1918874323CDH23c.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=
10g.71793367A>CCA377155022CDH23c.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
10g.71793367A>GCA5546080CDH23c.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
10g.71793367A>TCA377155023CDH23c.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
10g.71793368C>ACA5546081CDH23c.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
10g.71793368C=CA1918874329CDH23c.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=
10g.71793368C>GCA377155027CDH23c.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
10g.71793368C>TCA5546082CDH23c.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
10g.71793369C=CA1918874331CDH23c.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=
10g.71793369C>GCA2573145266CDH23c.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
10g.71793369C>TCA5546083CDH23c.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
10g.71793370G>ACA253332CDH23c.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
10g.71793370G>CCA377155032CDH23c.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
10g.71793370G=CA1918874336CDH23c.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=
10g.71793370G>TCA377155034CDH23c.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
10g.71793371A=CA1918874342CDH23c.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=
10g.71793371A>CCA377155035CDH23c.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
10g.71793371A>GCA5546084CDH23c.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
10g.71793371A>TCA377155037CDH23c.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
10g.71793372C>ACA377155039CDH23c.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
10g.71793372C>GCA377155040CDH23c.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
10g.71793373C>ACA668109027CDH23c.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
10g.71793373C=CA1918874347CDH23c.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=
10g.71793373C>GCA377155043CDH23c.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
10g.71793373C>TCA209466174CDH23c.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
10g.71793373_71793374delinsCGCA1918874351CDH23c.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
10g.71793374G>ACA5546086CDH23c.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
10g.71793374G>CCA5546085CDH23c.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
10g.71793374G=CA1918874359CDH23c.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=
10g.71793374G>TCA377155051CDH23c.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
10g.71793377delCA913189662CDH23c.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
10g.71793375G>ACA2499220351CDH23c.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
10g.71793375G>CCA915945957CDH23c.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
10g.71793375G=CA1918874365CDH23c.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=
10g.71793376G>ACA377155053CDH23c.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
10g.71793376G>CCA377155054CDH23c.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
10g.71793376G=CA1918874368CDH23c.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=
10g.71793376G>TCA377155055CDH23c.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
10g.71793377G>ACA377155056CDH23c.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
10g.71793377G>CCA377155057CDH23c.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
10g.71793377G=CA1918874372CDH23c.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=
10g.71793377G>TCA5546087CDH23c.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
10g.71793378C=CA1918874377CDH23c.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=
10g.71793378C>TCA1918874375CDH23c.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
10g.71793378dupCA668109043CDH23c.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
10g.71793379A>CCA377155058CDH23c.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
10g.71793379A>GCA377155059CDH23c.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
10g.71793379A>TCA377155060CDH23c.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
10g.71793380C>ACA377155063CDH23c.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
10g.71793380C>GCA377155065CDH23c.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
10g.71793380C>TCA377155061CDH23c.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
10g.71793381delCA2739275743CDH23c.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
10g.71793381C>ACA5546088CDH23c.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
10g.71793381C=CA1918874386CDH23c.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=
10g.71793381C>GCA2788485483CDH23c.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
10g.71793381C>TCA5546089CDH23c.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
10g.71793382G>ACA209466190CDH23c.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
10g.71793382G>CCA377155070CDH23c.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
10g.71793382G=CA1918874394CDH23c.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=
10g.71793382G>TCA377155072CDH23c.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
10g.71793383T>ACA377155074CDH23c.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
10g.71793383T>CCA377155075CDH23c.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
10g.71793383T>GCA377155077CDH23c.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
10g.71793384T>ACA2609580680CDH23c.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
10g.71793384T>CCA2504723901CDH23c.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
10g.71793385C>ACA377155079CDH23c.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
10g.71793385C=CA1918874399CDH23c.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=
10g.71793385C>GCA377155083CDH23c.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
10g.71793385C>TCA377155085CDH23c.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
10g.71793386C>ACA377155091CDH23c.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
10g.71793386C>GCA377155088CDH23c.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
10g.71793386C>TCA377155087CDH23c.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
10g.71793391_71793392dupCA209466191CDH23c.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
10g.71793387T>CCA5546090CDH23c.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
10g.71793387T=CA1918874405CDH23c.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=
10g.71793388C>ACA377155094CDH23c.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
10g.71793388C>GCA377155097CDH23c.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
10g.71793388C>TCA377155101CDH23c.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
10g.71793389T>ACA377155108CDH23c.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
10g.71793389T>CCA377155106CDH23c.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
10g.71793389T>GCA377155104CDH23c.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
10g.71793390C>ACA2722047715CDH23c.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
10g.71793390C=CA1918874407CDH23c.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=
10g.71793390C>TCA668109067CDH23c.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
10g.71793391T>ACA377155110CDH23c.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
10g.71793391T>CCA377155112CDH23c.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
10g.71793391T>GCA377155114CDH23c.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
10g.71793391T=CA1918874410CDH23c.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=
10g.71793392C>ACA377155116CDH23c.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
10g.71793392C=CA1918874412CDH23c.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=
10g.71793392C>GCA377155118CDH23c.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
10g.71793392C>TCA5546091CDH23c.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
10g.71793393G>ACA5546092CDH23c.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
10g.71793393G>CCA2574578498CDH23c.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
10g.71793393G=CA1918874417CDH23c.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=
10g.71793393G>TCA645559614CDH23c.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
10g.71793395dupCA2609580707CDH23c.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
10g.71793394G>ACA377155124CDH23c.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
10g.71793394G>CCA377155126CDH23c.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
10g.71793394G>TCA377155122CDH23c.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
10g.71793395G>ACA377155128CDH23c.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
10g.71793395G>CCA377155129CDH23c.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
10g.71793395G=CA1918874423CDH23c.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=
10g.71793395G>TCA377155130CDH23c.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
10g.71793396C>ACA2722050455CDH23c.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
10g.71793396C=CA1918874425CDH23c.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=
10g.71793396C>TCA594705923CDH23c.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
10g.71793397A=CA1918874428CDH23c.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=
10g.71793397A>CCA377155131CDH23c.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
10g.71793397A>GCA377155132CDH23c.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
10g.71793397A>TCA377155133CDH23c.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
10g.71793398C>ACA377155136CDH23c.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
10g.71793398C=CA1918874430CDH23c.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=
10g.71793398C>GCA377155135CDH23c.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
10g.71793398C>TCA377155134CDH23c.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
10g.71793400G>ACA377155137CDH23c.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
10g.71793400G>CCA377155138CDH23c.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
10g.71793400G>TCA377155139CDH23c.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
10g.71793401C>ACA377155140CDH23c.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
10g.71793401C=CA1918874433CDH23c.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=
10g.71793401C>GCA377155141CDH23c.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
10g.71793401C>TCA377155142CDH23c.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
10g.71793402dupCA2573145267CDH23c.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
10g.71793402C>TCA2609580735CDH23c.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
10g.71793403A>CCA377155145CDH23c.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
10g.71793403A>GCA377155143CDH23c.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
10g.71793403A>TCA377155144CDH23c.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
10g.71793404T>ACA377155146CDH23c.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
10g.71793404T>CCA377155147CDH23c.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
10g.71793404T>GCA377155148CDH23c.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
10g.71793405T>CCA2532437179CDH23c.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
10g.71793405T>GCA377155149CDH23c.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
10g.71793406G>ACA377155150CDH23c.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
10g.71793406G>CCA377155151CDH23c.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
10g.71793406G>TCA377155152CDH23c.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
10g.71793407T>ACA377155153CDH23c.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
10g.71793407T>CCA377155154CDH23c.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
10g.71793407T>GCA377155155CDH23c.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
10g.71793408C>ACA2609580742CDH23c.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
10g.71793409A>CCA377155156CDH23c.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
10g.71793409A>GCA377155157CDH23c.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
10g.71793409A>TCA377155158CDH23c.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
10g.71793410C>ACA5546093CDH23c.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
10g.71793410C=CA1918874436CDH23c.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=
10g.71793410C>GCA377155159CDH23c.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
10g.71793410C>TCA377155160CDH23c.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
10g.71793411C=CA1918874439CDH23c.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=
10g.71793411C>TCA594705924CDH23c.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
10g.71793412A=CA1918874442CDH23c.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=
10g.71793412A>CCA377155161CDH23c.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
10g.71793412A>GCA377155162CDH23c.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
10g.71793412A>TCA377155163CDH23c.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
10g.71793413T>ACA377155164CDH23c.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
10g.71793413T>CCA377155165CDH23c.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
10g.71793413T>GCA377155166CDH23c.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
10g.71793414T>CCA2517689295CDH23c.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
10g.71793414T>GCA377155167CDH23c.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
10g.71793415C>ACA209466197CDH23c.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
10g.71793415C=CA1918874444CDH23c.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=
10g.71793415C>GCA377155168CDH23c.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
10g.71793416T>ACA377155169CDH23c.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
10g.71793416T>CCA377155170CDH23c.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
10g.71793416T>GCA377155171CDH23c.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
10g.71793417G>ACA1918874446CDH23c.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
10g.71793417G>CCA137535CDH23c.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
10g.71793417G=CA1918874451CDH23c.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=
10g.71793417G>TCA2522241149CDH23c.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
10g.71793418A>CCA377155174CDH23c.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
10g.71793418A>GCA377155173CDH23c.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
10g.71793418A>TCA377155172CDH23c.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
10g.71793419T>ACA377155175CDH23c.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
10g.71793419T>CCA377155176CDH23c.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
10g.71793419T>GCA377155177CDH23c.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
10g.71793419T=CA1918874454CDH23c.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=
10g.71793420C>ACA2580946650CDH23c.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
10g.71793420C=CA1918874458CDH23c.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=
10g.71793420C>GCA377155178CDH23c.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
10g.71793420C>TCA137537CDH23c.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
10g.71793421G>ACA5546094CDH23c.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
10g.71793421G>CCA377155179CDH23c.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
10g.71793421G=CA1918874461CDH23c.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=
10g.71793421G>TCA377155180CDH23c.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
10g.71793422A>CCA377155181CDH23c.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
10g.71793422A>GCA377155182CDH23c.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
10g.71793422A>TCA377155183CDH23c.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
10g.71793423T>ACA377155184CDH23c.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
10g.71793423T>CCA2499220352CDH23c.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
10g.71793423T>GCA377155185CDH23c.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
10g.71793424G>ACA377155187CDH23c.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
10g.71793424G>CCA377155188CDH23c.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
10g.71793424G>TCA377155186CDH23c.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
10g.71793425A>CCA377155189CDH23c.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
10g.71793425A>GCA377155191CDH23c.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
10g.71793425A>TCA377155190CDH23c.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
10g.71793426C>ACA377155192CDH23c.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
10g.71793426C=CA1918874464CDH23c.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=
10g.71793426C>GCA377155193CDH23c.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
10g.71793426C>TCA1918874465CDH23c.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

Number of alleles fetched