Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71645934_71645955delinsTGGCCATCCCACTGGACTACGACA1918809284CDH23c.1244_1265delinsTGGCCATCCCACTGGACTACGA (p.Val415=)
c.675_696delinsTGGCCATCCCACTGGACTACGA
n.1080_1101delinsTGGCCATCCCACTGGACTACGA
c.908_929delinsTGGCCATCCCACTGGACTACGA (p.Val303=)
c.1259_1280delinsTGGCCATCCCACTGGACTACGA (p.Val420=)
c.989_1010delinsTGGCCATCCCACTGGACTACGA (p.Val330=)
c.19_40delinsTGGCCATCCCACTGGACTACGA
c.213_234delinsTGGCCATCCCACTGGACTACGA
c.1439_1460delinsTGGCCATCCCACTGGACTACGA (p.Val480=)
c.1373_1394delinsTGGCCATCCCACTGGACTACGA (p.Val458=)
c.1433_1454delinsTGGCCATCCCACTGGACTACGA (p.Val478=)
c.1379_1400delinsTGGCCATCCCACTGGACTACGA (p.Val460=)
c.1304_1325delinsTGGCCATCCCACTGGACTACGA (p.Val435=)
c.899_920delinsTGGCCATCCCACTGGACTACGA (p.Val300=)
c.257_278delinsTGGCCATCCCACTGGACTACGA (p.Val86=)
n.1682_1703delinsTGGCCATCCCACTGGACTACGA
10g.71645936_71645956delCA261773CDH23c.1246_1266del (p.Ala416_Glu422del)
c.677_697del
n.1082_1102del
c.910_930del (p.Ala304_Glu310del)
c.1261_1281del (p.Ala421_Glu427del)
c.991_1011del (p.Ala331_Glu337del)
c.21_41del
c.215_235del
c.1441_1461del (p.Ala481_Glu487del)
c.1375_1395del (p.Ala459_Glu465del)
c.1435_1455del (p.Ala479_Glu485del)
c.1381_1401del (p.Ala461_Glu467del)
c.1306_1326del (p.Ala436_Glu442del)
c.901_921del (p.Ala301_Glu307del)
c.259_279del (p.Ala87_Glu93del)
n.1684_1704del
 ClinVar dbSNP gnomAD v4
10g.71645946T>ACA377127806CDH23c.1256T>A (p.Leu419Gln)
c.687T>A
n.1092T>A
c.920T>A (p.Leu307Gln)
c.1271T>A (p.Leu424Gln)
c.1001T>A (p.Leu334Gln)
c.31T>A
c.225T>A
c.1451T>A (p.Leu484Gln)
c.1385T>A (p.Leu462Gln)
c.1445T>A (p.Leu482Gln)
c.1391T>A (p.Leu464Gln)
c.1316T>A (p.Leu439Gln)
c.911T>A (p.Leu304Gln)
c.269T>A (p.Leu90Gln)
n.1694T>A
10g.71645946T>CCA377127807CDH23c.1256T>C (p.Leu419Pro)
c.687T>C
n.1092T>C
c.920T>C (p.Leu307Pro)
c.1271T>C (p.Leu424Pro)
c.1001T>C (p.Leu334Pro)
c.31T>C
c.225T>C
c.1451T>C (p.Leu484Pro)
c.1385T>C (p.Leu462Pro)
c.1445T>C (p.Leu482Pro)
c.1391T>C (p.Leu464Pro)
c.1316T>C (p.Leu439Pro)
c.911T>C (p.Leu304Pro)
c.269T>C (p.Leu90Pro)
n.1694T>C
 gnomAD v4
10g.71645946T>GCA377127808CDH23c.1256T>G (p.Leu419Arg)
c.687T>G
n.1092T>G
c.920T>G (p.Leu307Arg)
c.1271T>G (p.Leu424Arg)
c.1001T>G (p.Leu334Arg)
c.31T>G
c.225T>G
c.1451T>G (p.Leu484Arg)
c.1385T>G (p.Leu462Arg)
c.1445T>G (p.Leu482Arg)
c.1391T>G (p.Leu464Arg)
c.1316T>G (p.Leu439Arg)
c.911T>G (p.Leu304Arg)
c.269T>G (p.Leu90Arg)
n.1694T>G
10g.71645947G>ACA470058016CDH23c.1257G>A (p.Leu419=)
c.688G>A
n.1093G>A
c.921G>A (p.Leu307=)
c.1272G>A (p.Leu424=)
c.1002G>A (p.Leu334=)
c.32G>A
c.226G>A
c.1452G>A (p.Leu484=)
c.1386G>A (p.Leu462=)
c.1446G>A (p.Leu482=)
c.1392G>A (p.Leu464=)
c.1317G>A (p.Leu439=)
c.912G>A (p.Leu304=)
c.270G>A (p.Leu90=)
n.1695G>A
10g.71645947G>CCA209442357CDH23c.1257G>C (p.Leu419=)
c.688G>C
n.1093G>C
c.921G>C (p.Leu307=)
c.1272G>C (p.Leu424=)
c.1002G>C (p.Leu334=)
c.32G>C
c.226G>C
c.1452G>C (p.Leu484=)
c.1386G>C (p.Leu462=)
c.1446G>C (p.Leu482=)
c.1392G>C (p.Leu464=)
c.1317G>C (p.Leu439=)
c.912G>C (p.Leu304=)
c.270G>C (p.Leu90=)
n.1695G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71645947G=CA1918809290CDH23c.1257G= (p.Leu419=)
c.688G=
n.1093G=
c.921G= (p.Leu307=)
c.1272G= (p.Leu424=)
c.1002G= (p.Leu334=)
c.32G=
c.226G=
c.1452G= (p.Leu484=)
c.1386G= (p.Leu462=)
c.1446G= (p.Leu482=)
c.1392G= (p.Leu464=)
c.1317G= (p.Leu439=)
c.912G= (p.Leu304=)
c.270G= (p.Leu90=)
n.1695G=
10g.71645947G>TCA470058015CDH23c.1257G>T (p.Leu419=)
c.688G>T
n.1093G>T
c.921G>T (p.Leu307=)
c.1272G>T (p.Leu424=)
c.1002G>T (p.Leu334=)
c.32G>T
c.226G>T
c.1452G>T (p.Leu484=)
c.1386G>T (p.Leu462=)
c.1446G>T (p.Leu482=)
c.1392G>T (p.Leu464=)
c.1317G>T (p.Leu439=)
c.912G>T (p.Leu304=)
c.270G>T (p.Leu90=)
n.1695G>T
10g.71645948G>ACA377127809CDH23c.1258G>A (p.Asp420Asn)
c.689G>A
n.1094G>A
c.922G>A (p.Asp308Asn)
c.1273G>A (p.Asp425Asn)
c.1003G>A (p.Asp335Asn)
c.33G>A
c.227G>A
c.1453G>A (p.Asp485Asn)
c.1387G>A (p.Asp463Asn)
c.1447G>A (p.Asp483Asn)
c.1393G>A (p.Asp465Asn)
c.1318G>A (p.Asp440Asn)
c.913G>A (p.Asp305Asn)
c.271G>A (p.Asp91Asn)
n.1696G>A
10g.71645948G>CCA377127810CDH23c.1258G>C (p.Asp420His)
c.689G>C
n.1094G>C
c.922G>C (p.Asp308His)
c.1273G>C (p.Asp425His)
c.1003G>C (p.Asp335His)
c.33G>C
c.227G>C
c.1453G>C (p.Asp485His)
c.1387G>C (p.Asp463His)
c.1447G>C (p.Asp483His)
c.1393G>C (p.Asp465His)
c.1318G>C (p.Asp440His)
c.913G>C (p.Asp305His)
c.271G>C (p.Asp91His)
n.1696G>C
10g.71645948G>TCA377127811CDH23c.1258G>T (p.Asp420Tyr)
c.689G>T
n.1094G>T
c.922G>T (p.Asp308Tyr)
c.1273G>T (p.Asp425Tyr)
c.1003G>T (p.Asp335Tyr)
c.33G>T
c.227G>T
c.1453G>T (p.Asp485Tyr)
c.1387G>T (p.Asp463Tyr)
c.1447G>T (p.Asp483Tyr)
c.1393G>T (p.Asp465Tyr)
c.1318G>T (p.Asp440Tyr)
c.913G>T (p.Asp305Tyr)
c.271G>T (p.Asp91Tyr)
n.1696G>T
10g.71645949A=CA1918809291CDH23c.1259A= (p.Asp420=)
c.690A=
n.1095A=
c.923A= (p.Asp308=)
c.1274A= (p.Asp425=)
c.1004A= (p.Asp335=)
c.34A=
c.228A=
c.1454A= (p.Asp485=)
c.1388A= (p.Asp463=)
c.1448A= (p.Asp483=)
c.1394A= (p.Asp465=)
c.1319A= (p.Asp440=)
c.914A= (p.Asp305=)
c.272A= (p.Asp91=)
n.1697A=
10g.71645949A>CCA377127812CDH23c.1259A>C (p.Asp420Ala)
c.690A>C
n.1095A>C
c.923A>C (p.Asp308Ala)
c.1274A>C (p.Asp425Ala)
c.1004A>C (p.Asp335Ala)
c.34A>C
c.228A>C
c.1454A>C (p.Asp485Ala)
c.1388A>C (p.Asp463Ala)
c.1448A>C (p.Asp483Ala)
c.1394A>C (p.Asp465Ala)
c.1319A>C (p.Asp440Ala)
c.914A>C (p.Asp305Ala)
c.272A>C (p.Asp91Ala)
n.1697A>C
10g.71645949A>GCA377127813CDH23c.1259A>G (p.Asp420Gly)
c.690A>G
n.1095A>G
c.923A>G (p.Asp308Gly)
c.1274A>G (p.Asp425Gly)
c.1004A>G (p.Asp335Gly)
c.34A>G
c.228A>G
c.1454A>G (p.Asp485Gly)
c.1388A>G (p.Asp463Gly)
c.1448A>G (p.Asp483Gly)
c.1394A>G (p.Asp465Gly)
c.1319A>G (p.Asp440Gly)
c.914A>G (p.Asp305Gly)
c.272A>G (p.Asp91Gly)
n.1697A>G
10g.71645949A>TCA377127814CDH23c.1259A>T (p.Asp420Val)
c.690A>T
n.1095A>T
c.923A>T (p.Asp308Val)
c.1274A>T (p.Asp425Val)
c.1004A>T (p.Asp335Val)
c.34A>T
c.228A>T
c.1454A>T (p.Asp485Val)
c.1388A>T (p.Asp463Val)
c.1448A>T (p.Asp483Val)
c.1394A>T (p.Asp465Val)
c.1319A>T (p.Asp440Val)
c.914A>T (p.Asp305Val)
c.272A>T (p.Asp91Val)
n.1697A>T
 dbSNP gnomAD v4
10g.71645950C>ACA377127815CDH23c.1260C>A (p.Asp420Glu)
c.691C>A
n.1096C>A
c.924C>A (p.Asp308Glu)
c.1275C>A (p.Asp425Glu)
c.1005C>A (p.Asp335Glu)
c.35C>A
c.229C>A
c.1455C>A (p.Asp485Glu)
c.1389C>A (p.Asp463Glu)
c.1449C>A (p.Asp483Glu)
c.1395C>A (p.Asp465Glu)
c.1320C>A (p.Asp440Glu)
c.915C>A (p.Asp305Glu)
c.273C>A (p.Asp91Glu)
n.1698C>A
10g.71645950C>GCA377127816CDH23c.1260C>G (p.Asp420Glu)
c.691C>G
n.1096C>G
c.924C>G (p.Asp308Glu)
c.1275C>G (p.Asp425Glu)
c.1005C>G (p.Asp335Glu)
c.35C>G
c.229C>G
c.1455C>G (p.Asp485Glu)
c.1389C>G (p.Asp463Glu)
c.1449C>G (p.Asp483Glu)
c.1395C>G (p.Asp465Glu)
c.1320C>G (p.Asp440Glu)
c.915C>G (p.Asp305Glu)
c.273C>G (p.Asp91Glu)
n.1698C>G
10g.71645950C>TCA470058017CDH23c.1260C>T (p.Asp420=)
c.691C>T
n.1096C>T
c.924C>T (p.Asp308=)
c.1275C>T (p.Asp425=)
c.1005C>T (p.Asp335=)
c.35C>T
c.229C>T
c.1455C>T (p.Asp485=)
c.1389C>T (p.Asp463=)
c.1449C>T (p.Asp483=)
c.1395C>T (p.Asp465=)
c.1320C>T (p.Asp440=)
c.915C>T (p.Asp305=)
c.273C>T (p.Asp91=)
n.1698C>T
 gnomAD v4
10g.71645951T>ACA377127817CDH23c.1261T>A (p.Tyr421Asn)
c.692T>A
n.1097T>A
c.925T>A (p.Tyr309Asn)
c.1276T>A (p.Tyr426Asn)
c.1006T>A (p.Tyr336Asn)
c.36T>A
c.230T>A
c.1456T>A (p.Tyr486Asn)
c.1390T>A (p.Tyr464Asn)
c.1450T>A (p.Tyr484Asn)
c.1396T>A (p.Tyr466Asn)
c.1321T>A (p.Tyr441Asn)
c.916T>A (p.Tyr306Asn)
c.274T>A (p.Tyr92Asn)
n.1699T>A
10g.71645951T>CCA377127818CDH23c.1261T>C (p.Tyr421His)
c.692T>C
n.1097T>C
c.925T>C (p.Tyr309His)
c.1276T>C (p.Tyr426His)
c.1006T>C (p.Tyr336His)
c.36T>C
c.230T>C
c.1456T>C (p.Tyr486His)
c.1390T>C (p.Tyr464His)
c.1450T>C (p.Tyr484His)
c.1396T>C (p.Tyr466His)
c.1321T>C (p.Tyr441His)
c.916T>C (p.Tyr306His)
c.274T>C (p.Tyr92His)
n.1699T>C
10g.71645951T>GCA377127819CDH23c.1261T>G (p.Tyr421Asp)
c.692T>G
n.1097T>G
c.925T>G (p.Tyr309Asp)
c.1276T>G (p.Tyr426Asp)
c.1006T>G (p.Tyr336Asp)
c.36T>G
c.230T>G
c.1456T>G (p.Tyr486Asp)
c.1390T>G (p.Tyr464Asp)
c.1450T>G (p.Tyr484Asp)
c.1396T>G (p.Tyr466Asp)
c.1321T>G (p.Tyr441Asp)
c.916T>G (p.Tyr306Asp)
c.274T>G (p.Tyr92Asp)
n.1699T>G
10g.71645952A>CCA377127820CDH23c.1262A>C (p.Tyr421Ser)
c.693A>C
n.1098A>C
c.926A>C (p.Tyr309Ser)
c.1277A>C (p.Tyr426Ser)
c.1007A>C (p.Tyr336Ser)
c.37A>C
c.231A>C
c.1457A>C (p.Tyr486Ser)
c.1391A>C (p.Tyr464Ser)
c.1451A>C (p.Tyr484Ser)
c.1397A>C (p.Tyr466Ser)
c.1322A>C (p.Tyr441Ser)
c.917A>C (p.Tyr306Ser)
c.275A>C (p.Tyr92Ser)
n.1700A>C
10g.71645952A>GCA377127821CDH23c.1262A>G (p.Tyr421Cys)
c.693A>G
n.1098A>G
c.926A>G (p.Tyr309Cys)
c.1277A>G (p.Tyr426Cys)
c.1007A>G (p.Tyr336Cys)
c.37A>G
c.231A>G
c.1457A>G (p.Tyr486Cys)
c.1391A>G (p.Tyr464Cys)
c.1451A>G (p.Tyr484Cys)
c.1397A>G (p.Tyr466Cys)
c.1322A>G (p.Tyr441Cys)
c.917A>G (p.Tyr306Cys)
c.275A>G (p.Tyr92Cys)
n.1700A>G
10g.71645952A>TCA377127822CDH23c.1262A>T (p.Tyr421Phe)
c.693A>T
n.1098A>T
c.926A>T (p.Tyr309Phe)
c.1277A>T (p.Tyr426Phe)
c.1007A>T (p.Tyr336Phe)
c.37A>T
c.231A>T
c.1457A>T (p.Tyr486Phe)
c.1391A>T (p.Tyr464Phe)
c.1451A>T (p.Tyr484Phe)
c.1397A>T (p.Tyr466Phe)
c.1322A>T (p.Tyr441Phe)
c.917A>T (p.Tyr306Phe)
c.275A>T (p.Tyr92Phe)
n.1700A>T
10g.71645953C>ACA377127823CDH23c.1263C>A (p.Tyr421Ter)
c.694C>A
n.1099C>A
c.927C>A (p.Tyr309Ter)
c.1278C>A (p.Tyr426Ter)
c.1008C>A (p.Tyr336Ter)
c.38C>A
c.232C>A
c.1458C>A (p.Tyr486Ter)
c.1392C>A (p.Tyr464Ter)
c.1452C>A (p.Tyr484Ter)
c.1398C>A (p.Tyr466Ter)
c.1323C>A (p.Tyr441Ter)
c.918C>A (p.Tyr306Ter)
c.276C>A (p.Tyr92Ter)
n.1701C>A
10g.71645953C=CA1918809292CDH23c.1263C= (p.Tyr421=)
c.694C=
n.1099C=
c.927C= (p.Tyr309=)
c.1278C= (p.Tyr426=)
c.1008C= (p.Tyr336=)
c.38C=
c.232C=
c.1458C= (p.Tyr486=)
c.1392C= (p.Tyr464=)
c.1452C= (p.Tyr484=)
c.1398C= (p.Tyr466=)
c.1323C= (p.Tyr441=)
c.918C= (p.Tyr306=)
c.276C= (p.Tyr92=)
n.1701C=
10g.71645953C>GCA377127824CDH23c.1263C>G (p.Tyr421Ter)
c.694C>G
n.1099C>G
c.927C>G (p.Tyr309Ter)
c.1278C>G (p.Tyr426Ter)
c.1008C>G (p.Tyr336Ter)
c.38C>G
c.232C>G
c.1458C>G (p.Tyr486Ter)
c.1392C>G (p.Tyr464Ter)
c.1452C>G (p.Tyr484Ter)
c.1398C>G (p.Tyr466Ter)
c.1323C>G (p.Tyr441Ter)
c.918C>G (p.Tyr306Ter)
c.276C>G (p.Tyr92Ter)
n.1701C>G
10g.71645953C>TCA5543743CDH23c.1263C>T (p.Tyr421=)
c.694C>T
n.1099C>T
c.927C>T (p.Tyr309=)
c.1278C>T (p.Tyr426=)
c.1008C>T (p.Tyr336=)
c.38C>T
c.232C>T
c.1458C>T (p.Tyr486=)
c.1392C>T (p.Tyr464=)
c.1452C>T (p.Tyr484=)
c.1398C>T (p.Tyr466=)
c.1323C>T (p.Tyr441=)
c.918C>T (p.Tyr306=)
c.276C>T (p.Tyr92=)
n.1701C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645954G>ACA5543744CDH23c.1264G>A (p.Glu422Lys)
c.695G>A
n.1100G>A
c.928G>A (p.Glu310Lys)
c.1279G>A (p.Glu427Lys)
c.1009G>A (p.Glu337Lys)
c.39G>A
c.233G>A
c.1459G>A (p.Glu487Lys)
c.1393G>A (p.Glu465Lys)
c.1453G>A (p.Glu485Lys)
c.1399G>A (p.Glu467Lys)
c.1324G>A (p.Glu442Lys)
c.919G>A (p.Glu307Lys)
c.277G>A (p.Glu93Lys)
n.1702G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.71645954G>CCA377127825CDH23c.1264G>C (p.Glu422Gln)
c.695G>C
n.1100G>C
c.928G>C (p.Glu310Gln)
c.1279G>C (p.Glu427Gln)
c.1009G>C (p.Glu337Gln)
c.39G>C
c.233G>C
c.1459G>C (p.Glu487Gln)
c.1393G>C (p.Glu465Gln)
c.1453G>C (p.Glu485Gln)
c.1399G>C (p.Glu467Gln)
c.1324G>C (p.Glu442Gln)
c.919G>C (p.Glu307Gln)
c.277G>C (p.Glu93Gln)
n.1702G>C
 ClinVar
10g.71645954G=CA1918809293CDH23c.1264G= (p.Glu422=)
c.695G=
n.1100G=
c.928G= (p.Glu310=)
c.1279G= (p.Glu427=)
c.1009G= (p.Glu337=)
c.39G=
c.233G=
c.1459G= (p.Glu487=)
c.1393G= (p.Glu465=)
c.1453G= (p.Glu485=)
c.1399G= (p.Glu467=)
c.1324G= (p.Glu442=)
c.919G= (p.Glu307=)
c.277G= (p.Glu93=)
n.1702G=
10g.71645954G>TCA377127826CDH23c.1264G>T (p.Glu422Ter)
c.695G>T
n.1100G>T
c.928G>T (p.Glu310Ter)
c.1279G>T (p.Glu427Ter)
c.1009G>T (p.Glu337Ter)
c.39G>T
c.233G>T
c.1459G>T (p.Glu487Ter)
c.1393G>T (p.Glu465Ter)
c.1453G>T (p.Glu485Ter)
c.1399G>T (p.Glu467Ter)
c.1324G>T (p.Glu442Ter)
c.919G>T (p.Glu307Ter)
c.277G>T (p.Glu93Ter)
n.1702G>T
10g.71645955A>CCA377127827CDH23c.1265A>C (p.Glu422Ala)
c.696A>C
n.1101A>C
c.929A>C (p.Glu310Ala)
c.1280A>C (p.Glu427Ala)
c.1010A>C (p.Glu337Ala)
c.40A>C
c.234A>C
c.1460A>C (p.Glu487Ala)
c.1394A>C (p.Glu465Ala)
c.1454A>C (p.Glu485Ala)
c.1400A>C (p.Glu467Ala)
c.1325A>C (p.Glu442Ala)
c.920A>C (p.Glu307Ala)
c.278A>C (p.Glu93Ala)
n.1703A>C
10g.71645955A>GCA377127829CDH23c.1265A>G (p.Glu422Gly)
c.696A>G
n.1101A>G
c.929A>G (p.Glu310Gly)
c.1280A>G (p.Glu427Gly)
c.1010A>G (p.Glu337Gly)
c.40A>G
c.234A>G
c.1460A>G (p.Glu487Gly)
c.1394A>G (p.Glu465Gly)
c.1454A>G (p.Glu485Gly)
c.1400A>G (p.Glu467Gly)
c.1325A>G (p.Glu442Gly)
c.920A>G (p.Glu307Gly)
c.278A>G (p.Glu93Gly)
n.1703A>G
10g.71645955A>TCA377127828CDH23c.1265A>T (p.Glu422Val)
c.696A>T
n.1101A>T
c.929A>T (p.Glu310Val)
c.1280A>T (p.Glu427Val)
c.1010A>T (p.Glu337Val)
c.40A>T
c.234A>T
c.1460A>T (p.Glu487Val)
c.1394A>T (p.Glu465Val)
c.1454A>T (p.Glu485Val)
c.1400A>T (p.Glu467Val)
c.1325A>T (p.Glu442Val)
c.920A>T (p.Glu307Val)
c.278A>T (p.Glu93Val)
n.1703A>T
10g.71645956G>ACA470058018CDH23c.1266G>A (p.Glu422=)
c.697G>A
n.1102G>A
c.930G>A (p.Glu310=)
c.1281G>A (p.Glu427=)
c.1011G>A (p.Glu337=)
c.41G>A
c.235G>A
c.1461G>A (p.Glu487=)
c.1395G>A (p.Glu465=)
c.1455G>A (p.Glu485=)
c.1401G>A (p.Glu467=)
c.1326G>A (p.Glu442=)
c.921G>A (p.Glu307=)
c.279G>A (p.Glu93=)
n.1704G>A
10g.71645956G>CCA377127830CDH23c.1266G>C (p.Glu422Asp)
c.697G>C
n.1102G>C
c.930G>C (p.Glu310Asp)
c.1281G>C (p.Glu427Asp)
c.1011G>C (p.Glu337Asp)
c.41G>C
c.235G>C
c.1461G>C (p.Glu487Asp)
c.1395G>C (p.Glu465Asp)
c.1455G>C (p.Glu485Asp)
c.1401G>C (p.Glu467Asp)
c.1326G>C (p.Glu442Asp)
c.921G>C (p.Glu307Asp)
c.279G>C (p.Glu93Asp)
n.1704G>C
10g.71645956G>TCA377127831CDH23c.1266G>T (p.Glu422Asp)
c.697G>T
n.1102G>T
c.930G>T (p.Glu310Asp)
c.1281G>T (p.Glu427Asp)
c.1011G>T (p.Glu337Asp)
c.41G>T
c.235G>T
c.1461G>T (p.Glu487Asp)
c.1395G>T (p.Glu465Asp)
c.1455G>T (p.Glu485Asp)
c.1401G>T (p.Glu467Asp)
c.1326G>T (p.Glu442Asp)
c.921G>T (p.Glu307Asp)
c.279G>T (p.Glu93Asp)
n.1704G>T
 dbSNP
10g.71645957A>CCA377127832CDH23c.1267A>C (p.Thr423Pro)
c.698A>C
n.1103A>C
c.931A>C (p.Thr311Pro)
c.1282A>C (p.Thr428Pro)
c.1012A>C (p.Thr338Pro)
c.42A>C
c.236A>C
c.1462A>C (p.Thr488Pro)
c.1396A>C (p.Thr466Pro)
c.1456A>C (p.Thr486Pro)
c.1402A>C (p.Thr468Pro)
c.1327A>C (p.Thr443Pro)
c.922A>C (p.Thr308Pro)
c.280A>C (p.Thr94Pro)
n.1705A>C
 dbSNP
10g.71645957A>GCA377127833CDH23c.1267A>G (p.Thr423Ala)
c.698A>G
n.1103A>G
c.931A>G (p.Thr311Ala)
c.1282A>G (p.Thr428Ala)
c.1012A>G (p.Thr338Ala)
c.42A>G
c.236A>G
c.1462A>G (p.Thr488Ala)
c.1396A>G (p.Thr466Ala)
c.1456A>G (p.Thr486Ala)
c.1402A>G (p.Thr468Ala)
c.1327A>G (p.Thr443Ala)
c.922A>G (p.Thr308Ala)
c.280A>G (p.Thr94Ala)
n.1705A>G
10g.71645957A>TCA377127834CDH23c.1267A>T (p.Thr423Ser)
c.698A>T
n.1103A>T
c.931A>T (p.Thr311Ser)
c.1282A>T (p.Thr428Ser)
c.1012A>T (p.Thr338Ser)
c.42A>T
c.236A>T
c.1462A>T (p.Thr488Ser)
c.1396A>T (p.Thr466Ser)
c.1456A>T (p.Thr486Ser)
c.1402A>T (p.Thr468Ser)
c.1327A>T (p.Thr443Ser)
c.922A>T (p.Thr308Ser)
c.280A>T (p.Thr94Ser)
n.1705A>T
 ClinVar dbSNP
10g.71645958C>ACA377127835CDH23c.1268C>A (p.Thr423Asn)
c.699C>A
n.1104C>A
c.932C>A (p.Thr311Asn)
c.1283C>A (p.Thr428Asn)
c.1013C>A (p.Thr338Asn)
c.43C>A
c.237C>A
c.1463C>A (p.Thr488Asn)
c.1397C>A (p.Thr466Asn)
c.1457C>A (p.Thr486Asn)
c.1403C>A (p.Thr468Asn)
c.1328C>A (p.Thr443Asn)
c.923C>A (p.Thr308Asn)
c.281C>A (p.Thr94Asn)
n.1706C>A
10g.71645958C=CA1918809294CDH23c.1268C= (p.Thr423=)
c.699C=
n.1104C=
c.932C= (p.Thr311=)
c.1283C= (p.Thr428=)
c.1013C= (p.Thr338=)
c.43C=
c.237C=
c.1463C= (p.Thr488=)
c.1397C= (p.Thr466=)
c.1457C= (p.Thr486=)
c.1403C= (p.Thr468=)
c.1328C= (p.Thr443=)
c.923C= (p.Thr308=)
c.281C= (p.Thr94=)
n.1706C=
10g.71645958C>GCA377127836CDH23c.1268C>G (p.Thr423Ser)
c.699C>G
n.1104C>G
c.932C>G (p.Thr311Ser)
c.1283C>G (p.Thr428Ser)
c.1013C>G (p.Thr338Ser)
c.43C>G
c.237C>G
c.1463C>G (p.Thr488Ser)
c.1397C>G (p.Thr466Ser)
c.1457C>G (p.Thr486Ser)
c.1403C>G (p.Thr468Ser)
c.1328C>G (p.Thr443Ser)
c.923C>G (p.Thr308Ser)
c.281C>G (p.Thr94Ser)
n.1706C>G
10g.71645958C>TCA377127837CDH23c.1268C>T (p.Thr423Ile)
c.699C>T
n.1104C>T
c.932C>T (p.Thr311Ile)
c.1283C>T (p.Thr428Ile)
c.1013C>T (p.Thr338Ile)
c.43C>T
c.237C>T
c.1463C>T (p.Thr488Ile)
c.1397C>T (p.Thr466Ile)
c.1457C>T (p.Thr486Ile)
c.1403C>T (p.Thr468Ile)
c.1328C>T (p.Thr443Ile)
c.923C>T (p.Thr308Ile)
c.281C>T (p.Thr94Ile)
n.1706C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71645959C>ACA470058019CDH23c.1269C>A (p.Thr423=)
c.700C>A
n.1105C>A
c.933C>A (p.Thr311=)
c.1284C>A (p.Thr428=)
c.1014C>A (p.Thr338=)
c.44C>A
c.238C>A
c.1464C>A (p.Thr488=)
c.1398C>A (p.Thr466=)
c.1458C>A (p.Thr486=)
c.1404C>A (p.Thr468=)
c.1329C>A (p.Thr443=)
c.924C>A (p.Thr308=)
c.282C>A (p.Thr94=)
n.1707C>A
 dbSNP gnomAD v2 gnomAD v4
10g.71645959C=CA1918809295CDH23c.1269C= (p.Thr423=)
c.700C=
n.1105C=
c.933C= (p.Thr311=)
c.1284C= (p.Thr428=)
c.1014C= (p.Thr338=)
c.44C=
c.238C=
c.1464C= (p.Thr488=)
c.1398C= (p.Thr466=)
c.1458C= (p.Thr486=)
c.1404C= (p.Thr468=)
c.1329C= (p.Thr443=)
c.924C= (p.Thr308=)
c.282C= (p.Thr94=)
n.1707C=
10g.71645959C>GCA470058020CDH23c.1269C>G (p.Thr423=)
c.700C>G
n.1105C>G
c.933C>G (p.Thr311=)
c.1284C>G (p.Thr428=)
c.1014C>G (p.Thr338=)
c.44C>G
c.238C>G
c.1464C>G (p.Thr488=)
c.1398C>G (p.Thr466=)
c.1458C>G (p.Thr486=)
c.1404C>G (p.Thr468=)
c.1329C>G (p.Thr443=)
c.924C>G (p.Thr308=)
c.282C>G (p.Thr94=)
n.1707C>G
 ClinVar
10g.71645959C>TCA5543745CDH23c.1269C>T (p.Thr423=)
c.700C>T
n.1105C>T
c.933C>T (p.Thr311=)
c.1284C>T (p.Thr428=)
c.1014C>T (p.Thr338=)
c.44C>T
c.238C>T
c.1464C>T (p.Thr488=)
c.1398C>T (p.Thr466=)
c.1458C>T (p.Thr486=)
c.1404C>T (p.Thr468=)
c.1329C>T (p.Thr443=)
c.924C>T (p.Thr308=)
c.282C>T (p.Thr94=)
n.1707C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched