Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71645829_71645863delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTGCA1918809233CDH23c.1141-2_1173delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.572-2_604delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
n.977-2_1009delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.805-2_837delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1156-2_1188delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.886-2_918delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.110-2_142delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1139_1173delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG (p.Gln380=)
c.1336-2_1368delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1270-2_1302delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1330-2_1362delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1276-2_1308delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1201-2_1233delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.796-2_828delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.154-2_186delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
n.1579-2_1611delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
10g.71645833_71645866delCA5543716CDH23c.1143_1176del
c.574_607del
n.979_1012del
c.807_840del
c.1158_1191del
c.888_921del
c.112_145del
c.1143_1176del (p.Leu382ThrfsTer?)
c.1338_1371del
c.1272_1305del
c.1332_1365del
c.1278_1311del
c.1203_1236del
c.798_831del
c.156_189del
n.1581_1614del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71645835T>ACA377127380CDH23c.1145T>A (p.Leu382Gln)
c.576T>A
n.981T>A
c.809T>A (p.Leu270Gln)
c.1160T>A (p.Leu387Gln)
c.890T>A (p.Leu297Gln)
c.114T>A
c.1340T>A (p.Leu447Gln)
c.1274T>A (p.Leu425Gln)
c.1334T>A (p.Leu445Gln)
c.1280T>A (p.Leu427Gln)
c.1205T>A (p.Leu402Gln)
c.800T>A (p.Leu267Gln)
c.158T>A (p.Leu53Gln)
n.1583T>A
10g.71645835T>CCA377127384CDH23c.1145T>C (p.Leu382Pro)
c.576T>C
n.981T>C
c.809T>C (p.Leu270Pro)
c.1160T>C (p.Leu387Pro)
c.890T>C (p.Leu297Pro)
c.114T>C
c.1340T>C (p.Leu447Pro)
c.1274T>C (p.Leu425Pro)
c.1334T>C (p.Leu445Pro)
c.1280T>C (p.Leu427Pro)
c.1205T>C (p.Leu402Pro)
c.800T>C (p.Leu267Pro)
c.158T>C (p.Leu53Pro)
n.1583T>C
10g.71645835T>GCA377127382CDH23c.1145T>G (p.Leu382Arg)
c.576T>G
n.981T>G
c.809T>G (p.Leu270Arg)
c.1160T>G (p.Leu387Arg)
c.890T>G (p.Leu297Arg)
c.114T>G
c.1340T>G (p.Leu447Arg)
c.1274T>G (p.Leu425Arg)
c.1334T>G (p.Leu445Arg)
c.1280T>G (p.Leu427Arg)
c.1205T>G (p.Leu402Arg)
c.800T>G (p.Leu267Arg)
c.158T>G (p.Leu53Arg)
n.1583T>G
10g.71645836G>ACA470057940CDH23c.1146G>A (p.Leu382=)
c.577G>A
n.982G>A
c.810G>A (p.Leu270=)
c.1161G>A (p.Leu387=)
c.891G>A (p.Leu297=)
c.115G>A
c.1341G>A (p.Leu447=)
c.1275G>A (p.Leu425=)
c.1335G>A (p.Leu445=)
c.1281G>A (p.Leu427=)
c.1206G>A (p.Leu402=)
c.801G>A (p.Leu267=)
c.159G>A (p.Leu53=)
n.1584G>A
10g.71645836G>CCA470057942CDH23c.1146G>C (p.Leu382=)
c.577G>C
n.982G>C
c.810G>C (p.Leu270=)
c.1161G>C (p.Leu387=)
c.891G>C (p.Leu297=)
c.115G>C
c.1341G>C (p.Leu447=)
c.1275G>C (p.Leu425=)
c.1335G>C (p.Leu445=)
c.1281G>C (p.Leu427=)
c.1206G>C (p.Leu402=)
c.801G>C (p.Leu267=)
c.159G>C (p.Leu53=)
n.1584G>C
10g.71645836G>TCA470057941CDH23c.1146G>T (p.Leu382=)
c.577G>T
n.982G>T
c.810G>T (p.Leu270=)
c.1161G>T (p.Leu387=)
c.891G>T (p.Leu297=)
c.115G>T
c.1341G>T (p.Leu447=)
c.1275G>T (p.Leu425=)
c.1335G>T (p.Leu445=)
c.1281G>T (p.Leu427=)
c.1206G>T (p.Leu402=)
c.801G>T (p.Leu267=)
c.159G>T (p.Leu53=)
n.1584G>T
10g.71645837A>CCA377127386CDH23c.1147A>C (p.Asn383His)
c.578A>C
n.983A>C
c.811A>C (p.Asn271His)
c.1162A>C (p.Asn388His)
c.892A>C (p.Asn298His)
c.116A>C
c.1342A>C (p.Asn448His)
c.1276A>C (p.Asn426His)
c.1336A>C (p.Asn446His)
c.1282A>C (p.Asn428His)
c.1207A>C (p.Asn403His)
c.802A>C (p.Asn268His)
c.160A>C (p.Asn54His)
n.1585A>C
10g.71645837A>GCA377127390CDH23c.1147A>G (p.Asn383Asp)
c.578A>G
n.983A>G
c.811A>G (p.Asn271Asp)
c.1162A>G (p.Asn388Asp)
c.892A>G (p.Asn298Asp)
c.116A>G
c.1342A>G (p.Asn448Asp)
c.1276A>G (p.Asn426Asp)
c.1336A>G (p.Asn446Asp)
c.1282A>G (p.Asn428Asp)
c.1207A>G (p.Asn403Asp)
c.802A>G (p.Asn268Asp)
c.160A>G (p.Asn54Asp)
n.1585A>G
10g.71645837A>TCA377127388CDH23c.1147A>T (p.Asn383Tyr)
c.578A>T
n.983A>T
c.811A>T (p.Asn271Tyr)
c.1162A>T (p.Asn388Tyr)
c.892A>T (p.Asn298Tyr)
c.116A>T
c.1342A>T (p.Asn448Tyr)
c.1276A>T (p.Asn426Tyr)
c.1336A>T (p.Asn446Tyr)
c.1282A>T (p.Asn428Tyr)
c.1207A>T (p.Asn403Tyr)
c.802A>T (p.Asn268Tyr)
c.160A>T (p.Asn54Tyr)
n.1585A>T
10g.71645838A>CCA377127391CDH23c.1148A>C (p.Asn383Thr)
c.579A>C
n.984A>C
c.812A>C (p.Asn271Thr)
c.1163A>C (p.Asn388Thr)
c.893A>C (p.Asn298Thr)
c.117A>C
c.1343A>C (p.Asn448Thr)
c.1277A>C (p.Asn426Thr)
c.1337A>C (p.Asn446Thr)
c.1283A>C (p.Asn428Thr)
c.1208A>C (p.Asn403Thr)
c.803A>C (p.Asn268Thr)
c.161A>C (p.Asn54Thr)
n.1586A>C
10g.71645838A>GCA377127394CDH23c.1148A>G (p.Asn383Ser)
c.579A>G
n.984A>G
c.812A>G (p.Asn271Ser)
c.1163A>G (p.Asn388Ser)
c.893A>G (p.Asn298Ser)
c.117A>G
c.1343A>G (p.Asn448Ser)
c.1277A>G (p.Asn426Ser)
c.1337A>G (p.Asn446Ser)
c.1283A>G (p.Asn428Ser)
c.1208A>G (p.Asn403Ser)
c.803A>G (p.Asn268Ser)
c.161A>G (p.Asn54Ser)
n.1586A>G
gnomAD v4
10g.71645838A>TCA377127392CDH23c.1148A>T (p.Asn383Ile)
c.579A>T
n.984A>T
c.812A>T (p.Asn271Ile)
c.1163A>T (p.Asn388Ile)
c.893A>T (p.Asn298Ile)
c.117A>T
c.1343A>T (p.Asn448Ile)
c.1277A>T (p.Asn426Ile)
c.1337A>T (p.Asn446Ile)
c.1283A>T (p.Asn428Ile)
c.1208A>T (p.Asn403Ile)
c.803A>T (p.Asn268Ile)
c.161A>T (p.Asn54Ile)
n.1586A>T
10g.71645839C>ACA5543718CDH23c.1149C>A (p.Asn383Lys)
c.580C>A
n.985C>A
c.813C>A (p.Asn271Lys)
c.1164C>A (p.Asn388Lys)
c.894C>A (p.Asn298Lys)
c.118C>A
c.1344C>A (p.Asn448Lys)
c.1278C>A (p.Asn426Lys)
c.1338C>A (p.Asn446Lys)
c.1284C>A (p.Asn428Lys)
c.1209C>A (p.Asn403Lys)
c.804C>A (p.Asn268Lys)
c.162C>A (p.Asn54Lys)
n.1587C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645839C=CA1918809237CDH23c.1149C= (p.Asn383=)
c.580C=
n.985C=
c.813C= (p.Asn271=)
c.1164C= (p.Asn388=)
c.894C= (p.Asn298=)
c.118C=
c.1344C= (p.Asn448=)
c.1278C= (p.Asn426=)
c.1338C= (p.Asn446=)
c.1284C= (p.Asn428=)
c.1209C= (p.Asn403=)
c.804C= (p.Asn268=)
c.162C= (p.Asn54=)
n.1587C=
10g.71645839C>GCA377127397CDH23c.1149C>G (p.Asn383Lys)
c.580C>G
n.985C>G
c.813C>G (p.Asn271Lys)
c.1164C>G (p.Asn388Lys)
c.894C>G (p.Asn298Lys)
c.118C>G
c.1344C>G (p.Asn448Lys)
c.1278C>G (p.Asn426Lys)
c.1338C>G (p.Asn446Lys)
c.1284C>G (p.Asn428Lys)
c.1209C>G (p.Asn403Lys)
c.804C>G (p.Asn268Lys)
c.162C>G (p.Asn54Lys)
n.1587C>G
10g.71645839C>TCA470057943CDH23c.1149C>T (p.Asn383=)
c.580C>T
n.985C>T
c.813C>T (p.Asn271=)
c.1164C>T (p.Asn388=)
c.894C>T (p.Asn298=)
c.118C>T
c.1344C>T (p.Asn448=)
c.1278C>T (p.Asn426=)
c.1338C>T (p.Asn446=)
c.1284C>T (p.Asn428=)
c.1209C>T (p.Asn403=)
c.804C>T (p.Asn268=)
c.162C>T (p.Asn54=)
n.1587C>T
COSMIC
10g.71645840A=CA1918809238CDH23c.1150A= (p.Ser384=)
c.581A=
n.986A=
c.814A= (p.Ser272=)
c.1165A= (p.Ser389=)
c.895A= (p.Ser299=)
c.119A=
c.1345A= (p.Ser449=)
c.1279A= (p.Ser427=)
c.1339A= (p.Ser447=)
c.1285A= (p.Ser429=)
c.1210A= (p.Ser404=)
c.805A= (p.Ser269=)
c.163A= (p.Ser55=)
n.1588A=
10g.71645840A>CCA377127399CDH23c.1150A>C (p.Ser384Arg)
c.581A>C
n.986A>C
c.814A>C (p.Ser272Arg)
c.1165A>C (p.Ser389Arg)
c.895A>C (p.Ser299Arg)
c.119A>C
c.1345A>C (p.Ser449Arg)
c.1279A>C (p.Ser427Arg)
c.1339A>C (p.Ser447Arg)
c.1285A>C (p.Ser429Arg)
c.1210A>C (p.Ser404Arg)
c.805A>C (p.Ser269Arg)
c.163A>C (p.Ser55Arg)
n.1588A>C
10g.71645840A>GCA377127401CDH23c.1150A>G (p.Ser384Gly)
c.581A>G
n.986A>G
c.814A>G (p.Ser272Gly)
c.1165A>G (p.Ser389Gly)
c.895A>G (p.Ser299Gly)
c.119A>G
c.1345A>G (p.Ser449Gly)
c.1279A>G (p.Ser427Gly)
c.1339A>G (p.Ser447Gly)
c.1285A>G (p.Ser429Gly)
c.1210A>G (p.Ser404Gly)
c.805A>G (p.Ser269Gly)
c.163A>G (p.Ser55Gly)
n.1588A>G
dbSNP gnomAD v4
10g.71645840A>TCA377127403CDH23c.1150A>T (p.Ser384Cys)
c.581A>T
n.986A>T
c.814A>T (p.Ser272Cys)
c.1165A>T (p.Ser389Cys)
c.895A>T (p.Ser299Cys)
c.119A>T
c.1345A>T (p.Ser449Cys)
c.1279A>T (p.Ser427Cys)
c.1339A>T (p.Ser447Cys)
c.1285A>T (p.Ser429Cys)
c.1210A>T (p.Ser404Cys)
c.805A>T (p.Ser269Cys)
c.163A>T (p.Ser55Cys)
n.1588A>T
10g.71645841G>ACA5543719CDH23c.1151G>A (p.Ser384Asn)
c.582G>A
n.987G>A
c.815G>A (p.Ser272Asn)
c.1166G>A (p.Ser389Asn)
c.896G>A (p.Ser299Asn)
c.120G>A
c.1346G>A (p.Ser449Asn)
c.1280G>A (p.Ser427Asn)
c.1340G>A (p.Ser447Asn)
c.1286G>A (p.Ser429Asn)
c.1211G>A (p.Ser404Asn)
c.806G>A (p.Ser269Asn)
c.164G>A (p.Ser55Asn)
n.1589G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645841G>CCA377127406CDH23c.1151G>C (p.Ser384Thr)
c.582G>C
n.987G>C
c.815G>C (p.Ser272Thr)
c.1166G>C (p.Ser389Thr)
c.896G>C (p.Ser299Thr)
c.120G>C
c.1346G>C (p.Ser449Thr)
c.1280G>C (p.Ser427Thr)
c.1340G>C (p.Ser447Thr)
c.1286G>C (p.Ser429Thr)
c.1211G>C (p.Ser404Thr)
c.806G>C (p.Ser269Thr)
c.164G>C (p.Ser55Thr)
n.1589G>C
10g.71645841G=CA1918809239CDH23c.1151G= (p.Ser384=)
c.582G=
n.987G=
c.815G= (p.Ser272=)
c.1166G= (p.Ser389=)
c.896G= (p.Ser299=)
c.120G=
c.1346G= (p.Ser449=)
c.1280G= (p.Ser427=)
c.1340G= (p.Ser447=)
c.1286G= (p.Ser429=)
c.1211G= (p.Ser404=)
c.806G= (p.Ser269=)
c.164G= (p.Ser55=)
n.1589G=
10g.71645841G>TCA377127408CDH23c.1151G>T (p.Ser384Ile)
c.582G>T
n.987G>T
c.815G>T (p.Ser272Ile)
c.1166G>T (p.Ser389Ile)
c.896G>T (p.Ser299Ile)
c.120G>T
c.1346G>T (p.Ser449Ile)
c.1280G>T (p.Ser427Ile)
c.1340G>T (p.Ser447Ile)
c.1286G>T (p.Ser429Ile)
c.1211G>T (p.Ser404Ile)
c.806G>T (p.Ser269Ile)
c.164G>T (p.Ser55Ile)
n.1589G>T
10g.71645842C>ACA377127412CDH23c.1152C>A (p.Ser384Arg)
c.583C>A
n.988C>A
c.816C>A (p.Ser272Arg)
c.1167C>A (p.Ser389Arg)
c.897C>A (p.Ser299Arg)
c.121C>A
c.1347C>A (p.Ser449Arg)
c.1281C>A (p.Ser427Arg)
c.1341C>A (p.Ser447Arg)
c.1287C>A (p.Ser429Arg)
c.1212C>A (p.Ser404Arg)
c.807C>A (p.Ser269Arg)
c.165C>A (p.Ser55Arg)
n.1590C>A
gnomAD v4
10g.71645842C>GCA377127410CDH23c.1152C>G (p.Ser384Arg)
c.583C>G
n.988C>G
c.816C>G (p.Ser272Arg)
c.1167C>G (p.Ser389Arg)
c.897C>G (p.Ser299Arg)
c.121C>G
c.1347C>G (p.Ser449Arg)
c.1281C>G (p.Ser427Arg)
c.1341C>G (p.Ser447Arg)
c.1287C>G (p.Ser429Arg)
c.1212C>G (p.Ser404Arg)
c.807C>G (p.Ser269Arg)
c.165C>G (p.Ser55Arg)
n.1590C>G
10g.71645842C>TCA470057944CDH23c.1152C>T (p.Ser384=)
c.583C>T
n.988C>T
c.816C>T (p.Ser272=)
c.1167C>T (p.Ser389=)
c.897C>T (p.Ser299=)
c.121C>T
c.1347C>T (p.Ser449=)
c.1281C>T (p.Ser427=)
c.1341C>T (p.Ser447=)
c.1287C>T (p.Ser429=)
c.1212C>T (p.Ser404=)
c.807C>T (p.Ser269=)
c.165C>T (p.Ser55=)
n.1590C>T
10g.71645843A=CA1918809240CDH23c.1153A= (p.Met385=)
c.584A=
n.989A=
c.817A= (p.Met273=)
c.1168A= (p.Met390=)
c.898A= (p.Met300=)
c.122A=
c.1348A= (p.Met450=)
c.1282A= (p.Met428=)
c.1342A= (p.Met448=)
c.1288A= (p.Met430=)
c.1213A= (p.Met405=)
c.808A= (p.Met270=)
c.166A= (p.Met56=)
n.1591A=
10g.71645843A>CCA377127415CDH23c.1153A>C (p.Met385Leu)
c.584A>C
n.989A>C
c.817A>C (p.Met273Leu)
c.1168A>C (p.Met390Leu)
c.898A>C (p.Met300Leu)
c.122A>C
c.1348A>C (p.Met450Leu)
c.1282A>C (p.Met428Leu)
c.1342A>C (p.Met448Leu)
c.1288A>C (p.Met430Leu)
c.1213A>C (p.Met405Leu)
c.808A>C (p.Met270Leu)
c.166A>C (p.Met56Leu)
n.1591A>C
10g.71645843A>GCA377127417CDH23c.1153A>G (p.Met385Val)
c.584A>G
n.989A>G
c.817A>G (p.Met273Val)
c.1168A>G (p.Met390Val)
c.898A>G (p.Met300Val)
c.122A>G
c.1348A>G (p.Met450Val)
c.1282A>G (p.Met428Val)
c.1342A>G (p.Met448Val)
c.1288A>G (p.Met430Val)
c.1213A>G (p.Met405Val)
c.808A>G (p.Met270Val)
c.166A>G (p.Met56Val)
n.1591A>G
gnomAD v4
10g.71645843A>TCA5543720CDH23c.1153A>T (p.Met385Leu)
c.584A>T
n.989A>T
c.817A>T (p.Met273Leu)
c.1168A>T (p.Met390Leu)
c.898A>T (p.Met300Leu)
c.122A>T
c.1348A>T (p.Met450Leu)
c.1282A>T (p.Met428Leu)
c.1342A>T (p.Met448Leu)
c.1288A>T (p.Met430Leu)
c.1213A>T (p.Met405Leu)
c.808A>T (p.Met270Leu)
c.166A>T (p.Met56Leu)
n.1591A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645844T>ACA377127420CDH23c.1154T>A (p.Met385Lys)
c.585T>A
n.990T>A
c.818T>A (p.Met273Lys)
c.1169T>A (p.Met390Lys)
c.899T>A (p.Met300Lys)
c.123T>A
c.1349T>A (p.Met450Lys)
c.1283T>A (p.Met428Lys)
c.1343T>A (p.Met448Lys)
c.1289T>A (p.Met430Lys)
c.1214T>A (p.Met405Lys)
c.809T>A (p.Met270Lys)
c.167T>A (p.Met56Lys)
n.1592T>A
10g.71645844T>CCA377127422CDH23c.1154T>C (p.Met385Thr)
c.585T>C
n.990T>C
c.818T>C (p.Met273Thr)
c.1169T>C (p.Met390Thr)
c.899T>C (p.Met300Thr)
c.123T>C
c.1349T>C (p.Met450Thr)
c.1283T>C (p.Met428Thr)
c.1343T>C (p.Met448Thr)
c.1289T>C (p.Met430Thr)
c.1214T>C (p.Met405Thr)
c.809T>C (p.Met270Thr)
c.167T>C (p.Met56Thr)
n.1592T>C
ClinVar dbSNP gnomAD v4
10g.71645844T>GCA377127424CDH23c.1154T>G (p.Met385Arg)
c.585T>G
n.990T>G
c.818T>G (p.Met273Arg)
c.1169T>G (p.Met390Arg)
c.899T>G (p.Met300Arg)
c.123T>G
c.1349T>G (p.Met450Arg)
c.1283T>G (p.Met428Arg)
c.1343T>G (p.Met448Arg)
c.1289T>G (p.Met430Arg)
c.1214T>G (p.Met405Arg)
c.809T>G (p.Met270Arg)
c.167T>G (p.Met56Arg)
n.1592T>G
gnomAD v4
10g.71645844T=CA1918809241CDH23c.1154T= (p.Met385=)
c.585T=
n.990T=
c.818T= (p.Met273=)
c.1169T= (p.Met390=)
c.899T= (p.Met300=)
c.123T=
c.1349T= (p.Met450=)
c.1283T= (p.Met428=)
c.1343T= (p.Met448=)
c.1289T= (p.Met430=)
c.1214T= (p.Met405=)
c.809T= (p.Met270=)
c.167T= (p.Met56=)
n.1592T=
10g.71645845G>ACA377127426CDH23c.1155G>A (p.Met385Ile)
c.586G>A
n.991G>A
c.819G>A (p.Met273Ile)
c.1170G>A (p.Met390Ile)
c.900G>A (p.Met300Ile)
c.124G>A
c.1350G>A (p.Met450Ile)
c.1284G>A (p.Met428Ile)
c.1344G>A (p.Met448Ile)
c.1290G>A (p.Met430Ile)
c.1215G>A (p.Met405Ile)
c.810G>A (p.Met270Ile)
c.168G>A (p.Met56Ile)
n.1593G>A
gnomAD v4
10g.71645845G>CCA377127430CDH23c.1155G>C (p.Met385Ile)
c.586G>C
n.991G>C
c.819G>C (p.Met273Ile)
c.1170G>C (p.Met390Ile)
c.900G>C (p.Met300Ile)
c.124G>C
c.1350G>C (p.Met450Ile)
c.1284G>C (p.Met428Ile)
c.1344G>C (p.Met448Ile)
c.1290G>C (p.Met430Ile)
c.1215G>C (p.Met405Ile)
c.810G>C (p.Met270Ile)
c.168G>C (p.Met56Ile)
n.1593G>C
10g.71645845G>TCA377127428CDH23c.1155G>T (p.Met385Ile)
c.586G>T
n.991G>T
c.819G>T (p.Met273Ile)
c.1170G>T (p.Met390Ile)
c.900G>T (p.Met300Ile)
c.124G>T
c.1350G>T (p.Met450Ile)
c.1284G>T (p.Met428Ile)
c.1344G>T (p.Met448Ile)
c.1290G>T (p.Met430Ile)
c.1215G>T (p.Met405Ile)
c.810G>T (p.Met270Ile)
c.168G>T (p.Met56Ile)
n.1593G>T
10g.71645846T>ACA377127432CDH23c.1156T>A (p.Phe386Ile)
c.587T>A
n.992T>A
c.820T>A (p.Phe274Ile)
c.1171T>A (p.Phe391Ile)
c.901T>A (p.Phe301Ile)
c.125T>A
c.1351T>A (p.Phe451Ile)
c.1285T>A (p.Phe429Ile)
c.1345T>A (p.Phe449Ile)
c.1291T>A (p.Phe431Ile)
c.1216T>A (p.Phe406Ile)
c.811T>A (p.Phe271Ile)
c.169T>A (p.Phe57Ile)
n.1594T>A
10g.71645846T>CCA377127434CDH23c.1156T>C (p.Phe386Leu)
c.587T>C
n.992T>C
c.820T>C (p.Phe274Leu)
c.1171T>C (p.Phe391Leu)
c.901T>C (p.Phe301Leu)
c.125T>C
c.1351T>C (p.Phe451Leu)
c.1285T>C (p.Phe429Leu)
c.1345T>C (p.Phe449Leu)
c.1291T>C (p.Phe431Leu)
c.1216T>C (p.Phe406Leu)
c.811T>C (p.Phe271Leu)
c.169T>C (p.Phe57Leu)
n.1594T>C
10g.71645846T>GCA377127436CDH23c.1156T>G (p.Phe386Val)
c.587T>G
n.992T>G
c.820T>G (p.Phe274Val)
c.1171T>G (p.Phe391Val)
c.901T>G (p.Phe301Val)
c.125T>G
c.1351T>G (p.Phe451Val)
c.1285T>G (p.Phe429Val)
c.1345T>G (p.Phe449Val)
c.1291T>G (p.Phe431Val)
c.1216T>G (p.Phe406Val)
c.811T>G (p.Phe271Val)
c.169T>G (p.Phe57Val)
n.1594T>G
10g.71645847T>ACA377127438CDH23c.1157T>A (p.Phe386Tyr)
c.588T>A
n.993T>A
c.821T>A (p.Phe274Tyr)
c.1172T>A (p.Phe391Tyr)
c.902T>A (p.Phe301Tyr)
c.126T>A
c.1352T>A (p.Phe451Tyr)
c.1286T>A (p.Phe429Tyr)
c.1346T>A (p.Phe449Tyr)
c.1292T>A (p.Phe431Tyr)
c.1217T>A (p.Phe406Tyr)
c.812T>A (p.Phe271Tyr)
c.170T>A (p.Phe57Tyr)
n.1595T>A
10g.71645847T>CCA377127441CDH23c.1157T>C (p.Phe386Ser)
c.588T>C
n.993T>C
c.821T>C (p.Phe274Ser)
c.1172T>C (p.Phe391Ser)
c.902T>C (p.Phe301Ser)
c.126T>C
c.1352T>C (p.Phe451Ser)
c.1286T>C (p.Phe429Ser)
c.1346T>C (p.Phe449Ser)
c.1292T>C (p.Phe431Ser)
c.1217T>C (p.Phe406Ser)
c.812T>C (p.Phe271Ser)
c.170T>C (p.Phe57Ser)
n.1595T>C
10g.71645847T>GCA377127442CDH23c.1157T>G (p.Phe386Cys)
c.588T>G
n.993T>G
c.821T>G (p.Phe274Cys)
c.1172T>G (p.Phe391Cys)
c.902T>G (p.Phe301Cys)
c.126T>G
c.1352T>G (p.Phe451Cys)
c.1286T>G (p.Phe429Cys)
c.1346T>G (p.Phe449Cys)
c.1292T>G (p.Phe431Cys)
c.1217T>G (p.Phe406Cys)
c.812T>G (p.Phe271Cys)
c.170T>G (p.Phe57Cys)
n.1595T>G
dbSNP gnomAD v3 gnomAD v4
10g.71645847T=CA1918809242CDH23c.1157T= (p.Phe386=)
c.588T=
n.993T=
c.821T= (p.Phe274=)
c.1172T= (p.Phe391=)
c.902T= (p.Phe301=)
c.126T=
c.1352T= (p.Phe451=)
c.1286T= (p.Phe429=)
c.1346T= (p.Phe449=)
c.1292T= (p.Phe431=)
c.1217T= (p.Phe406=)
c.812T= (p.Phe271=)
c.170T= (p.Phe57=)
n.1595T=
10g.71645848T>ACA377127443CDH23c.1158T>A (p.Phe386Leu)
c.589T>A
n.994T>A
c.822T>A (p.Phe274Leu)
c.1173T>A (p.Phe391Leu)
c.903T>A (p.Phe301Leu)
c.127T>A
c.1353T>A (p.Phe451Leu)
c.1287T>A (p.Phe429Leu)
c.1347T>A (p.Phe449Leu)
c.1293T>A (p.Phe431Leu)
c.1218T>A (p.Phe406Leu)
c.813T>A (p.Phe271Leu)
c.171T>A (p.Phe57Leu)
n.1596T>A
10g.71645848T>CCA470057945CDH23c.1158T>C (p.Phe386=)
c.589T>C
n.994T>C
c.822T>C (p.Phe274=)
c.1173T>C (p.Phe391=)
c.903T>C (p.Phe301=)
c.127T>C
c.1353T>C (p.Phe451=)
c.1287T>C (p.Phe429=)
c.1347T>C (p.Phe449=)
c.1293T>C (p.Phe431=)
c.1218T>C (p.Phe406=)
c.813T>C (p.Phe271=)
c.171T>C (p.Phe57=)
n.1596T>C
10g.71645848T>GCA377127446CDH23c.1158T>G (p.Phe386Leu)
c.589T>G
n.994T>G
c.822T>G (p.Phe274Leu)
c.1173T>G (p.Phe391Leu)
c.903T>G (p.Phe301Leu)
c.127T>G
c.1353T>G (p.Phe451Leu)
c.1287T>G (p.Phe429Leu)
c.1347T>G (p.Phe449Leu)
c.1293T>G (p.Phe431Leu)
c.1218T>G (p.Phe406Leu)
c.813T>G (p.Phe271Leu)
c.171T>G (p.Phe57Leu)
n.1596T>G

Number of alleles fetched