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.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
10g.71645849G>ACA377127447CDH23c.1159G>A (p.Glu387Lys)
c.590G>A
n.995G>A
c.823G>A (p.Glu275Lys)
c.1174G>A (p.Glu392Lys)
c.904G>A (p.Glu302Lys)
c.128G>A
c.1354G>A (p.Glu452Lys)
c.1288G>A (p.Glu430Lys)
c.1348G>A (p.Glu450Lys)
c.1294G>A (p.Glu432Lys)
c.1219G>A (p.Glu407Lys)
c.814G>A (p.Glu272Lys)
c.172G>A (p.Glu58Lys)
n.1597G>A
10g.71645849G>CCA377127449CDH23c.1159G>C (p.Glu387Gln)
c.590G>C
n.995G>C
c.823G>C (p.Glu275Gln)
c.1174G>C (p.Glu392Gln)
c.904G>C (p.Glu302Gln)
c.128G>C
c.1354G>C (p.Glu452Gln)
c.1288G>C (p.Glu430Gln)
c.1348G>C (p.Glu450Gln)
c.1294G>C (p.Glu432Gln)
c.1219G>C (p.Glu407Gln)
c.814G>C (p.Glu272Gln)
c.172G>C (p.Glu58Gln)
n.1597G>C
 gnomAD v4
10g.71645849G>TCA377127450CDH23c.1159G>T (p.Glu387Ter)
c.590G>T
n.995G>T
c.823G>T (p.Glu275Ter)
c.1174G>T (p.Glu392Ter)
c.904G>T (p.Glu302Ter)
c.128G>T
c.1354G>T (p.Glu452Ter)
c.1288G>T (p.Glu430Ter)
c.1348G>T (p.Glu450Ter)
c.1294G>T (p.Glu432Ter)
c.1219G>T (p.Glu407Ter)
c.814G>T (p.Glu272Ter)
c.172G>T (p.Glu58Ter)
n.1597G>T
10g.71645850A>CCA377127452CDH23c.1160A>C (p.Glu387Ala)
c.591A>C
n.996A>C
c.824A>C (p.Glu275Ala)
c.1175A>C (p.Glu392Ala)
c.905A>C (p.Glu302Ala)
c.129A>C
c.1355A>C (p.Glu452Ala)
c.1289A>C (p.Glu430Ala)
c.1349A>C (p.Glu450Ala)
c.1295A>C (p.Glu432Ala)
c.1220A>C (p.Glu407Ala)
c.815A>C (p.Glu272Ala)
c.173A>C (p.Glu58Ala)
n.1598A>C
10g.71645850A>GCA377127456CDH23c.1160A>G (p.Glu387Gly)
c.591A>G
n.996A>G
c.824A>G (p.Glu275Gly)
c.1175A>G (p.Glu392Gly)
c.905A>G (p.Glu302Gly)
c.129A>G
c.1355A>G (p.Glu452Gly)
c.1289A>G (p.Glu430Gly)
c.1349A>G (p.Glu450Gly)
c.1295A>G (p.Glu432Gly)
c.1220A>G (p.Glu407Gly)
c.815A>G (p.Glu272Gly)
c.173A>G (p.Glu58Gly)
n.1598A>G
10g.71645850A>TCA377127454CDH23c.1160A>T (p.Glu387Val)
c.591A>T
n.996A>T
c.824A>T (p.Glu275Val)
c.1175A>T (p.Glu392Val)
c.905A>T (p.Glu302Val)
c.129A>T
c.1355A>T (p.Glu452Val)
c.1289A>T (p.Glu430Val)
c.1349A>T (p.Glu450Val)
c.1295A>T (p.Glu432Val)
c.1220A>T (p.Glu407Val)
c.815A>T (p.Glu272Val)
c.173A>T (p.Glu58Val)
n.1598A>T
10g.71645851G>ACA470057946CDH23c.1161G>A (p.Glu387=)
c.592G>A
n.997G>A
c.825G>A (p.Glu275=)
c.1176G>A (p.Glu392=)
c.906G>A (p.Glu302=)
c.130G>A
c.1356G>A (p.Glu452=)
c.1290G>A (p.Glu430=)
c.1350G>A (p.Glu450=)
c.1296G>A (p.Glu432=)
c.1221G>A (p.Glu407=)
c.816G>A (p.Glu272=)
c.174G>A (p.Glu58=)
n.1599G>A
10g.71645851G>CCA377127458CDH23c.1161G>C (p.Glu387Asp)
c.592G>C
n.997G>C
c.825G>C (p.Glu275Asp)
c.1176G>C (p.Glu392Asp)
c.906G>C (p.Glu302Asp)
c.130G>C
c.1356G>C (p.Glu452Asp)
c.1290G>C (p.Glu430Asp)
c.1350G>C (p.Glu450Asp)
c.1296G>C (p.Glu432Asp)
c.1221G>C (p.Glu407Asp)
c.816G>C (p.Glu272Asp)
c.174G>C (p.Glu58Asp)
n.1599G>C
10g.71645851G>TCA377127459CDH23c.1161G>T (p.Glu387Asp)
c.592G>T
n.997G>T
c.825G>T (p.Glu275Asp)
c.1176G>T (p.Glu392Asp)
c.906G>T (p.Glu302Asp)
c.130G>T
c.1356G>T (p.Glu452Asp)
c.1290G>T (p.Glu430Asp)
c.1350G>T (p.Glu450Asp)
c.1296G>T (p.Glu432Asp)
c.1221G>T (p.Glu407Asp)
c.816G>T (p.Glu272Asp)
c.174G>T (p.Glu58Asp)
n.1599G>T
10g.71645852delCA2573145357CDH23c.1162del (p.Val388CysfsTer?)
c.593del
n.998del
c.826del (p.Val276CysfsTer?)
c.1177del (p.Val393CysfsTer?)
c.907del (p.Val303CysfsTer?)
c.131del
c.1357del (p.Val453CysfsTer?)
c.1291del (p.Val431CysfsTer?)
c.1351del (p.Val451CysfsTer?)
c.1297del (p.Val433CysfsTer?)
c.1222del (p.Val408CysfsTer?)
c.817del (p.Val273CysfsTer?)
c.175del (p.Val59CysfsTer?)
n.1600del
 ClinVar dbSNP
10g.71645852G>ACA5543721CDH23c.1162G>A (p.Val388Met)
c.593G>A
n.998G>A
c.826G>A (p.Val276Met)
c.1177G>A (p.Val393Met)
c.907G>A (p.Val303Met)
c.131G>A
c.1357G>A (p.Val453Met)
c.1291G>A (p.Val431Met)
c.1351G>A (p.Val451Met)
c.1297G>A (p.Val433Met)
c.1222G>A (p.Val408Met)
c.817G>A (p.Val273Met)
c.175G>A (p.Val59Met)
n.1600G>A
 dbSNP ExAC gnomAD v2
10g.71645852G>CCA377127464CDH23c.1162G>C (p.Val388Leu)
c.593G>C
n.998G>C
c.826G>C (p.Val276Leu)
c.1177G>C (p.Val393Leu)
c.907G>C (p.Val303Leu)
c.131G>C
c.1357G>C (p.Val453Leu)
c.1291G>C (p.Val431Leu)
c.1351G>C (p.Val451Leu)
c.1297G>C (p.Val433Leu)
c.1222G>C (p.Val408Leu)
c.817G>C (p.Val273Leu)
c.175G>C (p.Val59Leu)
n.1600G>C
 gnomAD v4
10g.71645852G=CA1918809243CDH23c.1162G= (p.Val388=)
c.593G=
n.998G=
c.826G= (p.Val276=)
c.1177G= (p.Val393=)
c.907G= (p.Val303=)
c.131G=
c.1357G= (p.Val453=)
c.1291G= (p.Val431=)
c.1351G= (p.Val451=)
c.1297G= (p.Val433=)
c.1222G= (p.Val408=)
c.817G= (p.Val273=)
c.175G= (p.Val59=)
n.1600G=
10g.71645852G>TCA5543722CDH23c.1162G>T (p.Val388Leu)
c.593G>T
n.998G>T
c.826G>T (p.Val276Leu)
c.1177G>T (p.Val393Leu)
c.907G>T (p.Val303Leu)
c.131G>T
c.1357G>T (p.Val453Leu)
c.1291G>T (p.Val431Leu)
c.1351G>T (p.Val451Leu)
c.1297G>T (p.Val433Leu)
c.1222G>T (p.Val408Leu)
c.817G>T (p.Val273Leu)
c.175G>T (p.Val59Leu)
n.1600G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71645853T>ACA377127466CDH23c.1163T>A (p.Val388Glu)
c.594T>A
n.999T>A
c.827T>A (p.Val276Glu)
c.1178T>A (p.Val393Glu)
c.908T>A (p.Val303Glu)
c.132T>A
c.1358T>A (p.Val453Glu)
c.1292T>A (p.Val431Glu)
c.1352T>A (p.Val451Glu)
c.1298T>A (p.Val433Glu)
c.1223T>A (p.Val408Glu)
c.818T>A (p.Val273Glu)
c.176T>A (p.Val59Glu)
n.1601T>A
10g.71645853T>CCA377127468CDH23c.1163T>C (p.Val388Ala)
c.594T>C
n.999T>C
c.827T>C (p.Val276Ala)
c.1178T>C (p.Val393Ala)
c.908T>C (p.Val303Ala)
c.132T>C
c.1358T>C (p.Val453Ala)
c.1292T>C (p.Val431Ala)
c.1352T>C (p.Val451Ala)
c.1298T>C (p.Val433Ala)
c.1223T>C (p.Val408Ala)
c.818T>C (p.Val273Ala)
c.176T>C (p.Val59Ala)
n.1601T>C
10g.71645853T>GCA377127470CDH23c.1163T>G (p.Val388Gly)
c.594T>G
n.999T>G
c.827T>G (p.Val276Gly)
c.1178T>G (p.Val393Gly)
c.908T>G (p.Val303Gly)
c.132T>G
c.1358T>G (p.Val453Gly)
c.1292T>G (p.Val431Gly)
c.1352T>G (p.Val451Gly)
c.1298T>G (p.Val433Gly)
c.1223T>G (p.Val408Gly)
c.818T>G (p.Val273Gly)
c.176T>G (p.Val59Gly)
n.1601T>G
10g.71645854G>ACA5543723CDH23c.1164G>A (p.Val388=)
c.595G>A
n.1000G>A
c.828G>A (p.Val276=)
c.1179G>A (p.Val393=)
c.909G>A (p.Val303=)
c.133G>A
c.1359G>A (p.Val453=)
c.1293G>A (p.Val431=)
c.1353G>A (p.Val451=)
c.1299G>A (p.Val433=)
c.1224G>A (p.Val408=)
c.819G>A (p.Val273=)
c.177G>A (p.Val59=)
n.1602G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71645854G>CCA470057947CDH23c.1164G>C (p.Val388=)
c.595G>C
n.1000G>C
c.828G>C (p.Val276=)
c.1179G>C (p.Val393=)
c.909G>C (p.Val303=)
c.133G>C
c.1359G>C (p.Val453=)
c.1293G>C (p.Val431=)
c.1353G>C (p.Val451=)
c.1299G>C (p.Val433=)
c.1224G>C (p.Val408=)
c.819G>C (p.Val273=)
c.177G>C (p.Val59=)
n.1602G>C
10g.71645854G=CA1918809244CDH23c.1164G= (p.Val388=)
c.595G=
n.1000G=
c.828G= (p.Val276=)
c.1179G= (p.Val393=)
c.909G= (p.Val303=)
c.133G=
c.1359G= (p.Val453=)
c.1293G= (p.Val431=)
c.1353G= (p.Val451=)
c.1299G= (p.Val433=)
c.1224G= (p.Val408=)
c.819G= (p.Val273=)
c.177G= (p.Val59=)
n.1602G=
10g.71645854G>TCA470057948CDH23c.1164G>T (p.Val388=)
c.595G>T
n.1000G>T
c.828G>T (p.Val276=)
c.1179G>T (p.Val393=)
c.909G>T (p.Val303=)
c.133G>T
c.1359G>T (p.Val453=)
c.1293G>T (p.Val431=)
c.1353G>T (p.Val451=)
c.1299G>T (p.Val433=)
c.1224G>T (p.Val408=)
c.819G>T (p.Val273=)
c.177G>T (p.Val59=)
n.1602G>T
10g.71645855T>ACA377127473CDH23c.1165T>A (p.Tyr389Asn)
c.596T>A
n.1001T>A
c.829T>A (p.Tyr277Asn)
c.1180T>A (p.Tyr394Asn)
c.910T>A (p.Tyr304Asn)
c.134T>A
c.1360T>A (p.Tyr454Asn)
c.1294T>A (p.Tyr432Asn)
c.1354T>A (p.Tyr452Asn)
c.1300T>A (p.Tyr434Asn)
c.1225T>A (p.Tyr409Asn)
c.820T>A (p.Tyr274Asn)
c.178T>A (p.Tyr60Asn)
n.1603T>A
10g.71645855T>CCA377127474CDH23c.1165T>C (p.Tyr389His)
c.596T>C
n.1001T>C
c.829T>C (p.Tyr277His)
c.1180T>C (p.Tyr394His)
c.910T>C (p.Tyr304His)
c.134T>C
c.1360T>C (p.Tyr454His)
c.1294T>C (p.Tyr432His)
c.1354T>C (p.Tyr452His)
c.1300T>C (p.Tyr434His)
c.1225T>C (p.Tyr409His)
c.820T>C (p.Tyr274His)
c.178T>C (p.Tyr60His)
n.1603T>C
10g.71645855T>GCA377127476CDH23c.1165T>G (p.Tyr389Asp)
c.596T>G
n.1001T>G
c.829T>G (p.Tyr277Asp)
c.1180T>G (p.Tyr394Asp)
c.910T>G (p.Tyr304Asp)
c.134T>G
c.1360T>G (p.Tyr454Asp)
c.1294T>G (p.Tyr432Asp)
c.1354T>G (p.Tyr452Asp)
c.1300T>G (p.Tyr434Asp)
c.1225T>G (p.Tyr409Asp)
c.820T>G (p.Tyr274Asp)
c.178T>G (p.Tyr60Asp)
n.1603T>G
10g.71645856A=CA1918809245CDH23c.1166A= (p.Tyr389=)
c.597A=
n.1002A=
c.830A= (p.Tyr277=)
c.1181A= (p.Tyr394=)
c.911A= (p.Tyr304=)
c.135A=
c.1361A= (p.Tyr454=)
c.1295A= (p.Tyr432=)
c.1355A= (p.Tyr452=)
c.1301A= (p.Tyr434=)
c.1226A= (p.Tyr409=)
c.821A= (p.Tyr274=)
c.179A= (p.Tyr60=)
n.1604A=
10g.71645856A>CCA377127482CDH23c.1166A>C (p.Tyr389Ser)
c.597A>C
n.1002A>C
c.830A>C (p.Tyr277Ser)
c.1181A>C (p.Tyr394Ser)
c.911A>C (p.Tyr304Ser)
c.135A>C
c.1361A>C (p.Tyr454Ser)
c.1295A>C (p.Tyr432Ser)
c.1355A>C (p.Tyr452Ser)
c.1301A>C (p.Tyr434Ser)
c.1226A>C (p.Tyr409Ser)
c.821A>C (p.Tyr274Ser)
c.179A>C (p.Tyr60Ser)
n.1604A>C
 dbSNP gnomAD v4
10g.71645856A>GCA377127479CDH23c.1166A>G (p.Tyr389Cys)
c.597A>G
n.1002A>G
c.830A>G (p.Tyr277Cys)
c.1181A>G (p.Tyr394Cys)
c.911A>G (p.Tyr304Cys)
c.135A>G
c.1361A>G (p.Tyr454Cys)
c.1295A>G (p.Tyr432Cys)
c.1355A>G (p.Tyr452Cys)
c.1301A>G (p.Tyr434Cys)
c.1226A>G (p.Tyr409Cys)
c.821A>G (p.Tyr274Cys)
c.179A>G (p.Tyr60Cys)
n.1604A>G
10g.71645856A>TCA377127480CDH23c.1166A>T (p.Tyr389Phe)
c.597A>T
n.1002A>T
c.830A>T (p.Tyr277Phe)
c.1181A>T (p.Tyr394Phe)
c.911A>T (p.Tyr304Phe)
c.135A>T
c.1361A>T (p.Tyr454Phe)
c.1295A>T (p.Tyr432Phe)
c.1355A>T (p.Tyr452Phe)
c.1301A>T (p.Tyr434Phe)
c.1226A>T (p.Tyr409Phe)
c.821A>T (p.Tyr274Phe)
c.179A>T (p.Tyr60Phe)
n.1604A>T
10g.71645857C>ACA377127485CDH23c.1167C>A (p.Tyr389Ter)
c.598C>A
n.1003C>A
c.831C>A (p.Tyr277Ter)
c.1182C>A (p.Tyr394Ter)
c.912C>A (p.Tyr304Ter)
c.136C>A
c.1362C>A (p.Tyr454Ter)
c.1296C>A (p.Tyr432Ter)
c.1356C>A (p.Tyr452Ter)
c.1302C>A (p.Tyr434Ter)
c.1227C>A (p.Tyr409Ter)
c.822C>A (p.Tyr274Ter)
c.180C>A (p.Tyr60Ter)
n.1605C>A
 COSMIC COSMIC
10g.71645857C>GCA377127486CDH23c.1167C>G (p.Tyr389Ter)
c.598C>G
n.1003C>G
c.831C>G (p.Tyr277Ter)
c.1182C>G (p.Tyr394Ter)
c.912C>G (p.Tyr304Ter)
c.136C>G
c.1362C>G (p.Tyr454Ter)
c.1296C>G (p.Tyr432Ter)
c.1356C>G (p.Tyr452Ter)
c.1302C>G (p.Tyr434Ter)
c.1227C>G (p.Tyr409Ter)
c.822C>G (p.Tyr274Ter)
c.180C>G (p.Tyr60Ter)
n.1605C>G
10g.71645857C>TCA470057949CDH23c.1167C>T (p.Tyr389=)
c.598C>T
n.1003C>T
c.831C>T (p.Tyr277=)
c.1182C>T (p.Tyr394=)
c.912C>T (p.Tyr304=)
c.136C>T
c.1362C>T (p.Tyr454=)
c.1296C>T (p.Tyr432=)
c.1356C>T (p.Tyr452=)
c.1302C>T (p.Tyr434=)
c.1227C>T (p.Tyr409=)
c.822C>T (p.Tyr274=)
c.180C>T (p.Tyr60=)
n.1605C>T
10g.71645858T>ACA377127489CDH23c.1168T>A (p.Leu390Met)
c.599T>A
n.1004T>A
c.832T>A (p.Leu278Met)
c.1183T>A (p.Leu395Met)
c.913T>A (p.Leu305Met)
c.137T>A
c.1363T>A (p.Leu455Met)
c.1297T>A (p.Leu433Met)
c.1357T>A (p.Leu453Met)
c.1303T>A (p.Leu435Met)
c.1228T>A (p.Leu410Met)
c.823T>A (p.Leu275Met)
c.181T>A (p.Leu61Met)
n.1606T>A
10g.71645858T>CCA5543724CDH23c.1168T>C (p.Leu390=)
c.599T>C
n.1004T>C
c.832T>C (p.Leu278=)
c.1183T>C (p.Leu395=)
c.913T>C (p.Leu305=)
c.137T>C
c.1363T>C (p.Leu455=)
c.1297T>C (p.Leu433=)
c.1357T>C (p.Leu453=)
c.1303T>C (p.Leu435=)
c.1228T>C (p.Leu410=)
c.823T>C (p.Leu275=)
c.181T>C (p.Leu61=)
n.1606T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645858T>GCA377127491CDH23c.1168T>G (p.Leu390Val)
c.599T>G
n.1004T>G
c.832T>G (p.Leu278Val)
c.1183T>G (p.Leu395Val)
c.913T>G (p.Leu305Val)
c.137T>G
c.1363T>G (p.Leu455Val)
c.1297T>G (p.Leu433Val)
c.1357T>G (p.Leu453Val)
c.1303T>G (p.Leu435Val)
c.1228T>G (p.Leu410Val)
c.823T>G (p.Leu275Val)
c.181T>G (p.Leu61Val)
n.1606T>G
10g.71645858T=CA1918809246CDH23c.1168T= (p.Leu390=)
c.599T=
n.1004T=
c.832T= (p.Leu278=)
c.1183T= (p.Leu395=)
c.913T= (p.Leu305=)
c.137T=
c.1363T= (p.Leu455=)
c.1297T= (p.Leu433=)
c.1357T= (p.Leu453=)
c.1303T= (p.Leu435=)
c.1228T= (p.Leu410=)
c.823T= (p.Leu275=)
c.181T= (p.Leu61=)
n.1606T=
10g.71645859T>ACA377127494CDH23c.1169T>A (p.Leu390Ter)
c.600T>A
n.1005T>A
c.833T>A (p.Leu278Ter)
c.1184T>A (p.Leu395Ter)
c.914T>A (p.Leu305Ter)
c.138T>A
c.1364T>A (p.Leu455Ter)
c.1298T>A (p.Leu433Ter)
c.1358T>A (p.Leu453Ter)
c.1304T>A (p.Leu435Ter)
c.1229T>A (p.Leu410Ter)
c.824T>A (p.Leu275Ter)
c.182T>A (p.Leu61Ter)
n.1607T>A
10g.71645859T>CCA377127495CDH23c.1169T>C (p.Leu390Ser)
c.600T>C
n.1005T>C
c.833T>C (p.Leu278Ser)
c.1184T>C (p.Leu395Ser)
c.914T>C (p.Leu305Ser)
c.138T>C
c.1364T>C (p.Leu455Ser)
c.1298T>C (p.Leu433Ser)
c.1358T>C (p.Leu453Ser)
c.1304T>C (p.Leu435Ser)
c.1229T>C (p.Leu410Ser)
c.824T>C (p.Leu275Ser)
c.182T>C (p.Leu61Ser)
n.1607T>C
10g.71645859T>GCA377127497CDH23c.1169T>G (p.Leu390Trp)
c.600T>G
n.1005T>G
c.833T>G (p.Leu278Trp)
c.1184T>G (p.Leu395Trp)
c.914T>G (p.Leu305Trp)
c.138T>G
c.1364T>G (p.Leu455Trp)
c.1298T>G (p.Leu433Trp)
c.1358T>G (p.Leu453Trp)
c.1304T>G (p.Leu435Trp)
c.1229T>G (p.Leu410Trp)
c.824T>G (p.Leu275Trp)
c.182T>G (p.Leu61Trp)
n.1607T>G
10g.71645860G>ACA470057950CDH23c.1170G>A (p.Leu390=)
c.601G>A
n.1006G>A
c.834G>A (p.Leu278=)
c.1185G>A (p.Leu395=)
c.915G>A (p.Leu305=)
c.139G>A
c.1365G>A (p.Leu455=)
c.1299G>A (p.Leu433=)
c.1359G>A (p.Leu453=)
c.1305G>A (p.Leu435=)
c.1230G>A (p.Leu410=)
c.825G>A (p.Leu275=)
c.183G>A (p.Leu61=)
n.1608G>A
10g.71645860G>CCA377127500CDH23c.1170G>C (p.Leu390Phe)
c.601G>C
n.1006G>C
c.834G>C (p.Leu278Phe)
c.1185G>C (p.Leu395Phe)
c.915G>C (p.Leu305Phe)
c.139G>C
c.1365G>C (p.Leu455Phe)
c.1299G>C (p.Leu433Phe)
c.1359G>C (p.Leu453Phe)
c.1305G>C (p.Leu435Phe)
c.1230G>C (p.Leu410Phe)
c.825G>C (p.Leu275Phe)
c.183G>C (p.Leu61Phe)
n.1608G>C
 dbSNP
10g.71645860G=CA1918809247CDH23c.1170G= (p.Leu390=)
c.601G=
n.1006G=
c.834G= (p.Leu278=)
c.1185G= (p.Leu395=)
c.915G= (p.Leu305=)
c.139G=
c.1365G= (p.Leu455=)
c.1299G= (p.Leu433=)
c.1359G= (p.Leu453=)
c.1305G= (p.Leu435=)
c.1230G= (p.Leu410=)
c.825G= (p.Leu275=)
c.183G= (p.Leu61=)
n.1608G=

Number of alleles fetched