Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232535145A>CCA351005920CHRNDc.1387A>C (p.Asn463His)
c.*569A>C (n.*569A>C)
c.*1028A>C (n.*1028A>C)
c.1342A>C (p.Asn448His)
c.805A>C (p.Asn269His)
c.1084A>C (p.Asn362His)
c.-4294966164A>C
c.-4294965885A>C
c.1006A>C (p.Asn336His)
2g.232535145A>GCA351005918CHRNDc.1387A>G (p.Asn463Asp)
c.*569A>G (n.*569A>G)
c.*1028A>G (n.*1028A>G)
c.1342A>G (p.Asn448Asp)
c.805A>G (p.Asn269Asp)
c.1084A>G (p.Asn362Asp)
c.-4294966164A>G
c.-4294965885A>G
c.1006A>G (p.Asn336Asp)
2g.232535145A>TCA351005919CHRNDc.1387A>T (p.Asn463Tyr)
c.*569A>T (n.*569A>T)
c.*1028A>T (n.*1028A>T)
c.1342A>T (p.Asn448Tyr)
c.805A>T (p.Asn269Tyr)
c.1084A>T (p.Asn362Tyr)
c.-4294966164A>T
c.-4294965885A>T
c.1006A>T (p.Asn336Tyr)
2g.232535145_232535148dupCA1335314469CHRNDc.1387_1390dup (p.Arg464GlnfsTer?)
c.*569_*572dup (n.*569_*572dup)
c.*1028_*1031dup (n.*1028_*1031dup)
c.1342_1345dup (p.Arg449GlnfsTer?)
c.805_808dup (p.Arg270GlnfsTer?)
c.1084_1087dup (p.Arg363GlnfsTer?)
c.-4294966164_-4294966161dup
c.-4294965885_-4294965882dup
c.1006_1009dup (p.Arg337GlnfsTer?)
 dbSNP
2g.232535146A=CA1335314470CHRNDc.1388A= (p.Asn463=)
c.*570A= (n.*570A=)
c.*1029A= (n.*1029A=)
c.1343A= (p.Asn448=)
c.806A= (p.Asn269=)
c.1085A= (p.Asn362=)
c.-4294966163A=
c.-4294965884A=
c.1007A= (p.Asn336=)
2g.232535146A>CCA351005921CHRNDc.1388A>C (p.Asn463Thr)
c.*570A>C (n.*570A>C)
c.*1029A>C (n.*1029A>C)
c.1343A>C (p.Asn448Thr)
c.806A>C (p.Asn269Thr)
c.1085A>C (p.Asn362Thr)
c.-4294966163A>C
c.-4294965884A>C
c.1007A>C (p.Asn336Thr)
 dbSNP
2g.232535146A>GCA351005922CHRNDc.1388A>G (p.Asn463Ser)
c.*570A>G (n.*570A>G)
c.*1029A>G (n.*1029A>G)
c.1343A>G (p.Asn448Ser)
c.806A>G (p.Asn269Ser)
c.1085A>G (p.Asn362Ser)
c.-4294966163A>G
c.-4294965884A>G
c.1007A>G (p.Asn336Ser)
2g.232535146A>TCA351005923CHRNDc.1388A>T (p.Asn463Ile)
c.*570A>T (n.*570A>T)
c.*1029A>T (n.*1029A>T)
c.1343A>T (p.Asn448Ile)
c.806A>T (p.Asn269Ile)
c.1085A>T (p.Asn362Ile)
c.-4294966163A>T
c.-4294965884A>T
c.1007A>T (p.Asn336Ile)
2g.232535147C>ACA351005924CHRNDc.1389C>A (p.Asn463Lys)
c.*571C>A (n.*571C>A)
c.*1030C>A (n.*1030C>A)
c.1344C>A (p.Asn448Lys)
c.807C>A (p.Asn269Lys)
c.1086C>A (p.Asn362Lys)
c.-4294966162C>A
c.-4294965883C>A
c.1008C>A (p.Asn336Lys)
2g.232535147C>GCA351005925CHRNDc.1389C>G (p.Asn463Lys)
c.*571C>G (n.*571C>G)
c.*1030C>G (n.*1030C>G)
c.1344C>G (p.Asn448Lys)
c.807C>G (p.Asn269Lys)
c.1086C>G (p.Asn362Lys)
c.-4294966162C>G
c.-4294965883C>G
c.1008C>G (p.Asn336Lys)
2g.232535147C>TCA431809037CHRNDc.1389C>T (p.Asn463=)
c.*571C>T (n.*571C>T)
c.*1030C>T (n.*1030C>T)
c.1344C>T (p.Asn448=)
c.807C>T (p.Asn269=)
c.1086C>T (p.Asn362=)
c.-4294966162C>T
c.-4294965883C>T
c.1008C>T (p.Asn336=)
2g.232535148C>ACA431809038CHRNDc.1390C>A (p.Arg464=)
c.*572C>A (n.*572C>A)
c.*1031C>A (n.*1031C>A)
c.1345C>A (p.Arg449=)
c.808C>A (p.Arg270=)
c.1087C>A (p.Arg363=)
c.-4294966161C>A
c.-4294965882C>A
c.1009C>A (p.Arg337=)
 gnomAD v4
2g.232535148C=CA1335314471CHRNDc.1390C= (p.Arg464=)
c.*572C= (n.*572C=)
c.*1031C= (n.*1031C=)
c.1345C= (p.Arg449=)
c.808C= (p.Arg270=)
c.1087C= (p.Arg363=)
c.-4294966161C=
c.-4294965882C=
c.1009C= (p.Arg337=)
2g.232535148C>GCA351005926CHRNDc.1390C>G (p.Arg464Gly)
c.*572C>G (n.*572C>G)
c.*1031C>G (n.*1031C>G)
c.1345C>G (p.Arg449Gly)
c.808C>G (p.Arg270Gly)
c.1087C>G (p.Arg363Gly)
c.-4294966161C>G
c.-4294965882C>G
c.1009C>G (p.Arg337Gly)
 gnomAD v4
2g.232535148C>TCA128070CHRNDc.1390C>T (p.Arg464Ter)
c.*572C>T (n.*572C>T)
c.*1031C>T (n.*1031C>T)
c.1345C>T (p.Arg449Ter)
c.808C>T (p.Arg270Ter)
c.1087C>T (p.Arg363Ter)
c.-4294966161C>T
c.-4294965882C>T
c.1009C>T (p.Arg337Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535149G>ACA351005927CHRNDc.1391G>A (p.Arg464Gln)
c.*573G>A (n.*573G>A)
c.*1032G>A (n.*1032G>A)
c.1346G>A (p.Arg449Gln)
c.809G>A (p.Arg270Gln)
c.1088G>A (p.Arg363Gln)
c.-4294966160G>A
c.-4294965881G>A
c.1010G>A (p.Arg337Gln)
 ClinVar dbSNP gnomAD v4
2g.232535149G>CCA351005928CHRNDc.1391G>C (p.Arg464Pro)
c.*573G>C (n.*573G>C)
c.*1032G>C (n.*1032G>C)
c.1346G>C (p.Arg449Pro)
c.809G>C (p.Arg270Pro)
c.1088G>C (p.Arg363Pro)
c.-4294966160G>C
c.-4294965881G>C
c.1010G>C (p.Arg337Pro)
 gnomAD v4
2g.232535149G=CA1335314472CHRNDc.1391G= (p.Arg464=)
c.*573G= (n.*573G=)
c.*1032G= (n.*1032G=)
c.1346G= (p.Arg449=)
c.809G= (p.Arg270=)
c.1088G= (p.Arg363=)
c.-4294966160G=
c.-4294965881G=
c.1010G= (p.Arg337=)
2g.232535149G>TCA351005929CHRNDc.1391G>T (p.Arg464Leu)
c.*573G>T (n.*573G>T)
c.*1032G>T (n.*1032G>T)
c.1346G>T (p.Arg449Leu)
c.809G>T (p.Arg270Leu)
c.1088G>T (p.Arg363Leu)
c.-4294966160G>T
c.-4294965881G>T
c.1010G>T (p.Arg337Leu)
 gnomAD v4
2g.232535150A=CA1335314473CHRNDc.1392A= (p.Arg464=)
c.*574A= (n.*574A=)
c.*1033A= (n.*1033A=)
c.1347A= (p.Arg449=)
c.810A= (p.Arg270=)
c.1089A= (p.Arg363=)
c.-4294966159A=
c.-4294965880A=
c.1011A= (p.Arg337=)
2g.232535150A>CCA431809039CHRNDc.1392A>C (p.Arg464=)
c.*574A>C (n.*574A>C)
c.*1033A>C (n.*1033A>C)
c.1347A>C (p.Arg449=)
c.810A>C (p.Arg270=)
c.1089A>C (p.Arg363=)
c.-4294966159A>C
c.-4294965880A>C
c.1011A>C (p.Arg337=)
2g.232535150A>GCA66958358CHRNDc.1392A>G (p.Arg464=)
c.*574A>G (n.*574A>G)
c.*1033A>G (n.*1033A>G)
c.1347A>G (p.Arg449=)
c.810A>G (p.Arg270=)
c.1089A>G (p.Arg363=)
c.-4294966159A>G
c.-4294965880A>G
c.1011A>G (p.Arg337=)
 dbSNP gnomAD v3 gnomAD v4
2g.232535150A>TCA431809041CHRNDc.1392A>T (p.Arg464=)
c.*574A>T (n.*574A>T)
c.*1033A>T (n.*1033A>T)
c.1347A>T (p.Arg449=)
c.810A>T (p.Arg270=)
c.1089A>T (p.Arg363=)
c.-4294966159A>T
c.-4294965880A>T
c.1011A>T (p.Arg337=)
2g.232535151G>ACA351005932CHRNDc.1393G>A (p.Val465Met)
c.*575G>A (n.*575G>A)
c.*1034G>A (n.*1034G>A)
c.1348G>A (p.Val450Met)
c.811G>A (p.Val271Met)
c.1090G>A (p.Val364Met)
c.-4294966158G>A
c.-4294965879G>A
c.1012G>A (p.Val338Met)
 dbSNP gnomAD v3 gnomAD v4
2g.232535151G>CCA351005930CHRNDc.1393G>C (p.Val465Leu)
c.*575G>C (n.*575G>C)
c.*1034G>C (n.*1034G>C)
c.1348G>C (p.Val450Leu)
c.811G>C (p.Val271Leu)
c.1090G>C (p.Val364Leu)
c.-4294966158G>C
c.-4294965879G>C
c.1012G>C (p.Val338Leu)
2g.232535151G=CA1335314474CHRNDc.1393G= (p.Val465=)
c.*575G= (n.*575G=)
c.*1034G= (n.*1034G=)
c.1348G= (p.Val450=)
c.811G= (p.Val271=)
c.1090G= (p.Val364=)
c.-4294966158G=
c.-4294965879G=
c.1012G= (p.Val338=)
2g.232535151G>TCA351005931CHRNDc.1393G>T (p.Val465Leu)
c.*575G>T (n.*575G>T)
c.*1034G>T (n.*1034G>T)
c.1348G>T (p.Val450Leu)
c.811G>T (p.Val271Leu)
c.1090G>T (p.Val364Leu)
c.-4294966158G>T
c.-4294965879G>T
c.1012G>T (p.Val338Leu)
2g.232535152T>ACA351005933CHRNDc.1394T>A (p.Val465Glu)
c.*576T>A (n.*576T>A)
c.*1035T>A (n.*1035T>A)
c.1349T>A (p.Val450Glu)
c.812T>A (p.Val271Glu)
c.1091T>A (p.Val364Glu)
c.-4294966157T>A
c.-4294965878T>A
c.1013T>A (p.Val338Glu)
2g.232535152T>CCA351005934CHRNDc.1394T>C (p.Val465Ala)
c.*576T>C (n.*576T>C)
c.*1035T>C (n.*1035T>C)
c.1349T>C (p.Val450Ala)
c.812T>C (p.Val271Ala)
c.1091T>C (p.Val364Ala)
c.-4294966157T>C
c.-4294965878T>C
c.1013T>C (p.Val338Ala)
2g.232535152T>GCA351005935CHRNDc.1394T>G (p.Val465Gly)
c.*576T>G (n.*576T>G)
c.*1035T>G (n.*1035T>G)
c.1349T>G (p.Val450Gly)
c.812T>G (p.Val271Gly)
c.1091T>G (p.Val364Gly)
c.-4294966157T>G
c.-4294965878T>G
c.1013T>G (p.Val338Gly)
2g.232535153G>ACA431809047CHRNDc.1395G>A (p.Val465=)
c.*577G>A (n.*577G>A)
c.*1036G>A (n.*1036G>A)
c.1350G>A (p.Val450=)
c.813G>A (p.Val271=)
c.1092G>A (p.Val364=)
c.-4294966156G>A
c.-4294965877G>A
c.1014G>A (p.Val338=)
2g.232535153G>CCA431809048CHRNDc.1395G>C (p.Val465=)
c.*577G>C (n.*577G>C)
c.*1036G>C (n.*1036G>C)
c.1350G>C (p.Val450=)
c.813G>C (p.Val271=)
c.1092G>C (p.Val364=)
c.-4294966156G>C
c.-4294965877G>C
c.1014G>C (p.Val338=)
2g.232535153G>TCA431809045CHRNDc.1395G>T (p.Val465=)
c.*577G>T (n.*577G>T)
c.*1036G>T (n.*1036G>T)
c.1350G>T (p.Val450=)
c.813G>T (p.Val271=)
c.1092G>T (p.Val364=)
c.-4294966156G>T
c.-4294965877G>T
c.1014G>T (p.Val338=)
2g.232535154G>ACA351005936CHRNDc.1396G>A (p.Ala466Thr)
c.*578G>A (n.*578G>A)
c.*1037G>A (n.*1037G>A)
c.1351G>A (p.Ala451Thr)
c.814G>A (p.Ala272Thr)
c.1093G>A (p.Ala365Thr)
c.-4294966155G>A
c.-4294965876G>A
c.1015G>A (p.Ala339Thr)
 gnomAD v4
2g.232535154G>CCA351005937CHRNDc.1396G>C (p.Ala466Pro)
c.*578G>C (n.*578G>C)
c.*1037G>C (n.*1037G>C)
c.1351G>C (p.Ala451Pro)
c.814G>C (p.Ala272Pro)
c.1093G>C (p.Ala365Pro)
c.-4294966155G>C
c.-4294965876G>C
c.1015G>C (p.Ala339Pro)
 dbSNP
2g.232535154G=CA1335314475CHRNDc.1396G= (p.Ala466=)
c.*578G= (n.*578G=)
c.*1037G= (n.*1037G=)
c.1351G= (p.Ala451=)
c.814G= (p.Ala272=)
c.1093G= (p.Ala365=)
c.-4294966155G=
c.-4294965876G=
c.1015G= (p.Ala339=)
2g.232535154G>TCA351005938CHRNDc.1396G>T (p.Ala466Ser)
c.*578G>T (n.*578G>T)
c.*1037G>T (n.*1037G>T)
c.1351G>T (p.Ala451Ser)
c.814G>T (p.Ala272Ser)
c.1093G>T (p.Ala365Ser)
c.-4294966155G>T
c.-4294965876G>T
c.1015G>T (p.Ala339Ser)
 gnomAD v4
2g.232535155C>ACA351005939CHRNDc.1397C>A (p.Ala466Asp)
c.*579C>A (n.*579C>A)
c.*1038C>A (n.*1038C>A)
c.1352C>A (p.Ala451Asp)
c.815C>A (p.Ala272Asp)
c.1094C>A (p.Ala365Asp)
c.-4294966154C>A
c.-4294965875C>A
c.1016C>A (p.Ala339Asp)
2g.232535155C>GCA351005940CHRNDc.1397C>G (p.Ala466Gly)
c.*579C>G (n.*579C>G)
c.*1038C>G (n.*1038C>G)
c.1352C>G (p.Ala451Gly)
c.815C>G (p.Ala272Gly)
c.1094C>G (p.Ala365Gly)
c.-4294966154C>G
c.-4294965875C>G
c.1016C>G (p.Ala339Gly)
2g.232535155C>TCA351005941CHRNDc.1397C>T (p.Ala466Val)
c.*579C>T (n.*579C>T)
c.*1038C>T (n.*1038C>T)
c.1352C>T (p.Ala451Val)
c.815C>T (p.Ala272Val)
c.1094C>T (p.Ala365Val)
c.-4294966154C>T
c.-4294965875C>T
c.1016C>T (p.Ala339Val)
2g.232535156C>ACA431809054CHRNDc.1398C>A (p.Ala466=)
c.*580C>A (n.*580C>A)
c.*1039C>A (n.*1039C>A)
c.1353C>A (p.Ala451=)
c.816C>A (p.Ala272=)
c.1095C>A (p.Ala365=)
c.-4294966153C>A
c.-4294965874C>A
c.1017C>A (p.Ala339=)
2g.232535156C>GCA431809052CHRNDc.1398C>G (p.Ala466=)
c.*580C>G (n.*580C>G)
c.*1039C>G (n.*1039C>G)
c.1353C>G (p.Ala451=)
c.816C>G (p.Ala272=)
c.1095C>G (p.Ala365=)
c.-4294966153C>G
c.-4294965874C>G
c.1017C>G (p.Ala339=)
2g.232535156C>TCA431809053CHRNDc.1398C>T (p.Ala466=)
c.*580C>T (n.*580C>T)
c.*1039C>T (n.*1039C>T)
c.1353C>T (p.Ala451=)
c.816C>T (p.Ala272=)
c.1095C>T (p.Ala365=)
c.-4294966153C>T
c.-4294965874C>T
c.1017C>T (p.Ala339=)
2g.232535157C>ACA351005942CHRNDc.1399C>A (p.Arg467Ser)
c.*581C>A (n.*581C>A)
c.*1040C>A (n.*1040C>A)
c.1354C>A (p.Arg452Ser)
c.817C>A (p.Arg273Ser)
c.1096C>A (p.Arg366Ser)
c.-4294966152C>A
c.-4294965873C>A
c.1018C>A (p.Arg340Ser)
2g.232535157C=CA1335314476CHRNDc.1399C= (p.Arg467=)
c.*581C= (n.*581C=)
c.*1040C= (n.*1040C=)
c.1354C= (p.Arg452=)
c.817C= (p.Arg273=)
c.1096C= (p.Arg366=)
c.-4294966152C=
c.-4294965873C=
c.1018C= (p.Arg340=)
2g.232535157C>GCA351005943CHRNDc.1399C>G (p.Arg467Gly)
c.*581C>G (n.*581C>G)
c.*1040C>G (n.*1040C>G)
c.1354C>G (p.Arg452Gly)
c.817C>G (p.Arg273Gly)
c.1096C>G (p.Arg366Gly)
c.-4294966152C>G
c.-4294965873C>G
c.1018C>G (p.Arg340Gly)
 gnomAD v4
2g.232535157C>TCA351005944CHRNDc.1399C>T (p.Arg467Cys)
c.*581C>T (n.*581C>T)
c.*1040C>T (n.*1040C>T)
c.1354C>T (p.Arg452Cys)
c.817C>T (p.Arg273Cys)
c.1096C>T (p.Arg366Cys)
c.-4294966152C>T
c.-4294965873C>T
c.1018C>T (p.Arg340Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535158G>ACA200909CHRNDc.1400G>A (p.Arg467His)
c.*582G>A (n.*582G>A)
c.*1041G>A (n.*1041G>A)
c.1355G>A (p.Arg452His)
c.818G>A (p.Arg273His)
c.1097G>A (p.Arg366His)
c.-4294966151G>A
c.-4294965872G>A
c.1019G>A (p.Arg340His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535158G>CCA351005946CHRNDc.1400G>C (p.Arg467Pro)
c.*582G>C (n.*582G>C)
c.*1041G>C (n.*1041G>C)
c.1355G>C (p.Arg452Pro)
c.818G>C (p.Arg273Pro)
c.1097G>C (p.Arg366Pro)
c.-4294966151G>C
c.-4294965872G>C
c.1019G>C (p.Arg340Pro)
2g.232535158G=CA1335314477CHRNDc.1400G= (p.Arg467=)
c.*582G= (n.*582G=)
c.*1041G= (n.*1041G=)
c.1355G= (p.Arg452=)
c.818G= (p.Arg273=)
c.1097G= (p.Arg366=)
c.-4294966151G=
c.-4294965872G=
c.1019G= (p.Arg340=)
2g.232535158G>TCA351005945CHRNDc.1400G>T (p.Arg467Leu)
c.*582G>T (n.*582G>T)
c.*1041G>T (n.*1041G>T)
c.1355G>T (p.Arg452Leu)
c.818G>T (p.Arg273Leu)
c.1097G>T (p.Arg366Leu)
c.-4294966151G>T
c.-4294965872G>T
c.1019G>T (p.Arg340Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.232535159C>ACA431809058CHRNDc.1401C>A (p.Arg467=)
c.*583C>A (n.*583C>A)
c.*1042C>A (n.*1042C>A)
c.1356C>A (p.Arg452=)
c.819C>A (p.Arg273=)
c.1098C>A (p.Arg366=)
c.-4294966150C>A
c.-4294965871C>A
c.1020C>A (p.Arg340=)
2g.232535159C>GCA431809062CHRNDc.1401C>G (p.Arg467=)
c.*583C>G (n.*583C>G)
c.*1042C>G (n.*1042C>G)
c.1356C>G (p.Arg452=)
c.819C>G (p.Arg273=)
c.1098C>G (p.Arg366=)
c.-4294966150C>G
c.-4294965871C>G
c.1020C>G (p.Arg340=)
2g.232535159C>TCA431809059CHRNDc.1401C>T (p.Arg467=)
c.*583C>T (n.*583C>T)
c.*1042C>T (n.*1042C>T)
c.1356C>T (p.Arg452=)
c.819C>T (p.Arg273=)
c.1098C>T (p.Arg366=)
c.-4294966150C>T
c.-4294965871C>T
c.1020C>T (p.Arg340=)
2g.232535160A>CCA351005949CHRNDc.1402A>C (p.Thr468Pro)
c.*584A>C (n.*584A>C)
c.*1043A>C (n.*1043A>C)
c.1357A>C (p.Thr453Pro)
c.820A>C (p.Thr274Pro)
c.1099A>C (p.Thr367Pro)
c.-4294966149A>C
c.-4294965870A>C
c.1021A>C (p.Thr341Pro)
2g.232535160A>GCA351005947CHRNDc.1402A>G (p.Thr468Ala)
c.*584A>G (n.*584A>G)
c.*1043A>G (n.*1043A>G)
c.1357A>G (p.Thr453Ala)
c.820A>G (p.Thr274Ala)
c.1099A>G (p.Thr367Ala)
c.-4294966149A>G
c.-4294965870A>G
c.1021A>G (p.Thr341Ala)
2g.232535160A>TCA351005948CHRNDc.1402A>T (p.Thr468Ser)
c.*584A>T (n.*584A>T)
c.*1043A>T (n.*1043A>T)
c.1357A>T (p.Thr453Ser)
c.820A>T (p.Thr274Ser)
c.1099A>T (p.Thr367Ser)
c.-4294966149A>T
c.-4294965870A>T
c.1021A>T (p.Thr341Ser)
2g.232535161C>ACA351005950CHRNDc.1403C>A (p.Thr468Lys)
c.*585C>A (n.*585C>A)
c.*1044C>A (n.*1044C>A)
c.1358C>A (p.Thr453Lys)
c.821C>A (p.Thr274Lys)
c.1100C>A (p.Thr367Lys)
c.-4294966148C>A
c.-4294965869C>A
c.1022C>A (p.Thr341Lys)
2g.232535161C=CA1335314478CHRNDc.1403C= (p.Thr468=)
c.*585C= (n.*585C=)
c.*1044C= (n.*1044C=)
c.1358C= (p.Thr453=)
c.821C= (p.Thr274=)
c.1100C= (p.Thr367=)
c.-4294966148C=
c.-4294965869C=
c.1022C= (p.Thr341=)
2g.232535161C>GCA2168352CHRNDc.1403C>G (p.Thr468Arg)
c.*585C>G (n.*585C>G)
c.*1044C>G (n.*1044C>G)
c.1358C>G (p.Thr453Arg)
c.821C>G (p.Thr274Arg)
c.1100C>G (p.Thr367Arg)
c.-4294966148C>G
c.-4294965869C>G
c.1022C>G (p.Thr341Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535161C>TCA66958391CHRNDc.1403C>T (p.Thr468Ile)
c.*585C>T (n.*585C>T)
c.*1044C>T (n.*1044C>T)
c.1358C>T (p.Thr453Ile)
c.821C>T (p.Thr274Ile)
c.1100C>T (p.Thr367Ile)
c.-4294966148C>T
c.-4294965869C>T
c.1022C>T (p.Thr341Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535162A>CCA431809065CHRNDc.1404A>C (p.Thr468=)
c.*586A>C (n.*586A>C)
c.*1045A>C (n.*1045A>C)
c.1359A>C (p.Thr453=)
c.822A>C (p.Thr274=)
c.1101A>C (p.Thr367=)
c.-4294966147A>C
c.-4294965868A>C
c.1023A>C (p.Thr341=)
2g.232535162A>GCA431809066CHRNDc.1404A>G (p.Thr468=)
c.*586A>G (n.*586A>G)
c.*1045A>G (n.*1045A>G)
c.1359A>G (p.Thr453=)
c.822A>G (p.Thr274=)
c.1101A>G (p.Thr367=)
c.-4294966147A>G
c.-4294965868A>G
c.1023A>G (p.Thr341=)
2g.232535162A>TCA431809067CHRNDc.1404A>T (p.Thr468=)
c.*586A>T (n.*586A>T)
c.*1045A>T (n.*1045A>T)
c.1359A>T (p.Thr453=)
c.822A>T (p.Thr274=)
c.1101A>T (p.Thr367=)
c.-4294966147A>T
c.-4294965868A>T
c.1023A>T (p.Thr341=)
2g.232535163G>ACA351005953CHRNDc.1405G>A (p.Val469Met)
c.*587G>A (n.*587G>A)
c.*1046G>A (n.*1046G>A)
c.1360G>A (p.Val454Met)
c.823G>A (p.Val275Met)
c.1102G>A (p.Val368Met)
c.-4294966146G>A
c.-4294965867G>A
c.1024G>A (p.Val342Met)
2g.232535163G>CCA351005952CHRNDc.1405G>C (p.Val469Leu)
c.*587G>C (n.*587G>C)
c.*1046G>C (n.*1046G>C)
c.1360G>C (p.Val454Leu)
c.823G>C (p.Val275Leu)
c.1102G>C (p.Val368Leu)
c.-4294966146G>C
c.-4294965867G>C
c.1024G>C (p.Val342Leu)
2g.232535163G>TCA351005951CHRNDc.1405G>T (p.Val469Leu)
c.*587G>T (n.*587G>T)
c.*1046G>T (n.*1046G>T)
c.1360G>T (p.Val454Leu)
c.823G>T (p.Val275Leu)
c.1102G>T (p.Val368Leu)
c.-4294966146G>T
c.-4294965867G>T
c.1024G>T (p.Val342Leu)
2g.232535164T>ACA351005954CHRNDc.1406T>A (p.Val469Glu)
c.*588T>A (n.*588T>A)
c.*1047T>A (n.*1047T>A)
c.1361T>A (p.Val454Glu)
c.824T>A (p.Val275Glu)
c.1103T>A (p.Val368Glu)
c.-4294966145T>A
c.-4294965866T>A
c.1025T>A (p.Val342Glu)
2g.232535164T>CCA351005955CHRNDc.1406T>C (p.Val469Ala)
c.*588T>C (n.*588T>C)
c.*1047T>C (n.*1047T>C)
c.1361T>C (p.Val454Ala)
c.824T>C (p.Val275Ala)
c.1103T>C (p.Val368Ala)
c.-4294966145T>C
c.-4294965866T>C
c.1025T>C (p.Val342Ala)
2g.232535164T>GCA351005956CHRNDc.1406T>G (p.Val469Gly)
c.*588T>G (n.*588T>G)
c.*1047T>G (n.*1047T>G)
c.1361T>G (p.Val454Gly)
c.824T>G (p.Val275Gly)
c.1103T>G (p.Val368Gly)
c.-4294966145T>G
c.-4294965866T>G
c.1025T>G (p.Val342Gly)
2g.232535165G>ACA431809071CHRNDc.1407G>A (p.Val469=)
c.*589G>A (n.*589G>A)
c.*1048G>A (n.*1048G>A)
c.1362G>A (p.Val454=)
c.825G>A (p.Val275=)
c.1104G>A (p.Val368=)
c.-4294966144G>A
c.-4294965865G>A
c.1026G>A (p.Val342=)
 ClinVar
2g.232535165G>CCA431809072CHRNDc.1407G>C (p.Val469=)
c.*589G>C (n.*589G>C)
c.*1048G>C (n.*1048G>C)
c.1362G>C (p.Val454=)
c.825G>C (p.Val275=)
c.1104G>C (p.Val368=)
c.-4294966144G>C
c.-4294965865G>C
c.1026G>C (p.Val342=)
2g.232535165G>TCA431809073CHRNDc.1407G>T (p.Val469=)
c.*589G>T (n.*589G>T)
c.*1048G>T (n.*1048G>T)
c.1362G>T (p.Val454=)
c.825G>T (p.Val275=)
c.1104G>T (p.Val368=)
c.-4294966144G>T
c.-4294965865G>T
c.1026G>T (p.Val342=)
2g.232535166G>ACA351005957CHRNDc.1408G>A (p.Asp470Asn)
c.*590G>A (n.*590G>A)
c.*1049G>A (n.*1049G>A)
c.1363G>A (p.Asp455Asn)
c.826G>A (p.Asp276Asn)
c.1105G>A (p.Asp369Asn)
c.-4294966143G>A
c.-4294965864G>A
c.1027G>A (p.Asp343Asn)
 gnomAD v4 COSMIC
2g.232535166G>CCA2168353CHRNDc.1408G>C (p.Asp470His)
c.*590G>C (n.*590G>C)
c.*1049G>C (n.*1049G>C)
c.1363G>C (p.Asp455His)
c.826G>C (p.Asp276His)
c.1105G>C (p.Asp369His)
c.-4294966143G>C
c.-4294965864G>C
c.1027G>C (p.Asp343His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232535166G=CA1335314479CHRNDc.1408G= (p.Asp470=)
c.*590G= (n.*590G=)
c.*1049G= (n.*1049G=)
c.1363G= (p.Asp455=)
c.826G= (p.Asp276=)
c.1105G= (p.Asp369=)
c.-4294966143G=
c.-4294965864G=
c.1027G= (p.Asp343=)
2g.232535166G>TCA351005958CHRNDc.1408G>T (p.Asp470Tyr)
c.*590G>T (n.*590G>T)
c.*1049G>T (n.*1049G>T)
c.1363G>T (p.Asp455Tyr)
c.826G>T (p.Asp276Tyr)
c.1105G>T (p.Asp369Tyr)
c.-4294966143G>T
c.-4294965864G>T
c.1027G>T (p.Asp343Tyr)
 dbSNP gnomAD v2
2g.232535167A=CA1335314480CHRNDc.1409A= (p.Asp470=)
c.*591A= (n.*591A=)
c.*1050A= (n.*1050A=)
c.1364A= (p.Asp455=)
c.827A= (p.Asp276=)
c.1106A= (p.Asp369=)
c.-4294966142A=
c.-4294965863A=
c.1028A= (p.Asp343=)
2g.232535167A>CCA351005959CHRNDc.1409A>C (p.Asp470Ala)
c.*591A>C (n.*591A>C)
c.*1050A>C (n.*1050A>C)
c.1364A>C (p.Asp455Ala)
c.827A>C (p.Asp276Ala)
c.1106A>C (p.Asp369Ala)
c.-4294966142A>C
c.-4294965863A>C
c.1028A>C (p.Asp343Ala)
 dbSNP gnomAD v4
2g.232535167A>GCA351005961CHRNDc.1409A>G (p.Asp470Gly)
c.*591A>G (n.*591A>G)
c.*1050A>G (n.*1050A>G)
c.1364A>G (p.Asp455Gly)
c.827A>G (p.Asp276Gly)
c.1106A>G (p.Asp369Gly)
c.-4294966142A>G
c.-4294965863A>G
c.1028A>G (p.Asp343Gly)
2g.232535167A>TCA351005960CHRNDc.1409A>T (p.Asp470Val)
c.*591A>T (n.*591A>T)
c.*1050A>T (n.*1050A>T)
c.1364A>T (p.Asp455Val)
c.827A>T (p.Asp276Val)
c.1106A>T (p.Asp369Val)
c.-4294966142A>T
c.-4294965863A>T
c.1028A>T (p.Asp343Val)
2g.232535168C>ACA351005962CHRNDc.1410C>A (p.Asp470Glu)
c.*592C>A (n.*592C>A)
c.*1051C>A (n.*1051C>A)
c.1365C>A (p.Asp455Glu)
c.828C>A (p.Asp276Glu)
c.1107C>A (p.Asp369Glu)
c.-4294966141C>A
c.-4294965862C>A
c.1029C>A (p.Asp343Glu)
2g.232535168C=CA1335314481CHRNDc.1410C= (p.Asp470=)
c.*592C= (n.*592C=)
c.*1051C= (n.*1051C=)
c.1365C= (p.Asp455=)
c.828C= (p.Asp276=)
c.1107C= (p.Asp369=)
c.-4294966141C=
c.-4294965862C=
c.1029C= (p.Asp343=)
2g.232535168C>GCA351005963CHRNDc.1410C>G (p.Asp470Glu)
c.*592C>G (n.*592C>G)
c.*1051C>G (n.*1051C>G)
c.1365C>G (p.Asp455Glu)
c.828C>G (p.Asp276Glu)
c.1107C>G (p.Asp369Glu)
c.-4294966141C>G
c.-4294965862C>G
c.1029C>G (p.Asp343Glu)
2g.232535168C>TCA431809075CHRNDc.1410C>T (p.Asp470=)
c.*592C>T (n.*592C>T)
c.*1051C>T (n.*1051C>T)
c.1365C>T (p.Asp455=)
c.828C>T (p.Asp276=)
c.1107C>T (p.Asp369=)
c.-4294966141C>T
c.-4294965862C>T
c.1029C>T (p.Asp343=)
 dbSNP gnomAD v4
2g.232535169C>ACA351005964CHRNDc.1411C>A (p.Arg471Ser)
c.*593C>A (n.*593C>A)
c.*1052C>A (n.*1052C>A)
c.1366C>A (p.Arg456Ser)
c.829C>A (p.Arg277Ser)
c.1108C>A (p.Arg370Ser)
c.-4294966140C>A
c.-4294965861C>A
c.1030C>A (p.Arg344Ser)
2g.232535169C=CA1335314482CHRNDc.1411C= (p.Arg471=)
c.*593C= (n.*593C=)
c.*1052C= (n.*1052C=)
c.1366C= (p.Arg456=)
c.829C= (p.Arg277=)
c.1108C= (p.Arg370=)
c.-4294966140C=
c.-4294965861C=
c.1030C= (p.Arg344=)
2g.232535169C>GCA351005965CHRNDc.1411C>G (p.Arg471Gly)
c.*593C>G (n.*593C>G)
c.*1052C>G (n.*1052C>G)
c.1366C>G (p.Arg456Gly)
c.829C>G (p.Arg277Gly)
c.1108C>G (p.Arg370Gly)
c.-4294966140C>G
c.-4294965861C>G
c.1030C>G (p.Arg344Gly)
 ClinVar dbSNP
2g.232535169C>TCA2168354CHRNDc.1411C>T (p.Arg471Cys)
c.*593C>T (n.*593C>T)
c.*1052C>T (n.*1052C>T)
c.1366C>T (p.Arg456Cys)
c.829C>T (p.Arg277Cys)
c.1108C>T (p.Arg370Cys)
c.-4294966140C>T
c.-4294965861C>T
c.1030C>T (p.Arg344Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535170G>ACA66958411CHRNDc.1412G>A (p.Arg471His)
c.*594G>A (n.*594G>A)
c.*1053G>A (n.*1053G>A)
c.1367G>A (p.Arg456His)
c.830G>A (p.Arg277His)
c.1109G>A (p.Arg370His)
c.-4294966139G>A
c.-4294965860G>A
c.1031G>A (p.Arg344His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535170G>CCA351005966CHRNDc.1412G>C (p.Arg471Pro)
c.*594G>C (n.*594G>C)
c.*1053G>C (n.*1053G>C)
c.1367G>C (p.Arg456Pro)
c.830G>C (p.Arg277Pro)
c.1109G>C (p.Arg370Pro)
c.-4294966139G>C
c.-4294965860G>C
c.1031G>C (p.Arg344Pro)
2g.232535170G=CA1335314483CHRNDc.1412G= (p.Arg471=)
c.*594G= (n.*594G=)
c.*1053G= (n.*1053G=)
c.1367G= (p.Arg456=)
c.830G= (p.Arg277=)
c.1109G= (p.Arg370=)
c.-4294966139G=
c.-4294965860G=
c.1031G= (p.Arg344=)
2g.232535170G>TCA351005967CHRNDc.1412G>T (p.Arg471Leu)
c.*594G>T (n.*594G>T)
c.*1053G>T (n.*1053G>T)
c.1367G>T (p.Arg456Leu)
c.830G>T (p.Arg277Leu)
c.1109G>T (p.Arg370Leu)
c.-4294966139G>T
c.-4294965860G>T
c.1031G>T (p.Arg344Leu)
2g.232535171C>ACA431809077CHRNDc.1413C>A (p.Arg471=)
c.*595C>A (n.*595C>A)
c.*1054C>A (n.*1054C>A)
c.1368C>A (p.Arg456=)
c.831C>A (p.Arg277=)
c.1110C>A (p.Arg370=)
c.-4294966138C>A
c.-4294965859C>A
c.1032C>A (p.Arg344=)
2g.232535171C=CA1335314484CHRNDc.1413C= (p.Arg471=)
c.*595C= (n.*595C=)
c.*1054C= (n.*1054C=)
c.1368C= (p.Arg456=)
c.831C= (p.Arg277=)
c.1110C= (p.Arg370=)
c.-4294966138C=
c.-4294965859C=
c.1032C= (p.Arg344=)
2g.232535171C>GCA2168355CHRNDc.1413C>G (p.Arg471=)
c.*595C>G (n.*595C>G)
c.*1054C>G (n.*1054C>G)
c.1368C>G (p.Arg456=)
c.831C>G (p.Arg277=)
c.1110C>G (p.Arg370=)
c.-4294966138C>G
c.-4294965859C>G
c.1032C>G (p.Arg344=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.232535171C>TCA431809078CHRNDc.1413C>T (p.Arg471=)
c.*595C>T (n.*595C>T)
c.*1054C>T (n.*1054C>T)
c.1368C>T (p.Arg456=)
c.831C>T (p.Arg277=)
c.1110C>T (p.Arg370=)
c.-4294966138C>T
c.-4294965859C>T
c.1032C>T (p.Arg344=)
2g.232535172C>ACA351005968CHRNDc.1414C>A (p.Leu472Ile)
c.*596C>A (n.*596C>A)
c.*1055C>A (n.*1055C>A)
c.1369C>A (p.Leu457Ile)
c.832C>A (p.Leu278Ile)
c.1111C>A (p.Leu371Ile)
c.-4294966137C>A
c.-4294965858C>A
c.1033C>A (p.Leu345Ile)
2g.232535172C>GCA351005969CHRNDc.1414C>G (p.Leu472Val)
c.*596C>G (n.*596C>G)
c.*1055C>G (n.*1055C>G)
c.1369C>G (p.Leu457Val)
c.832C>G (p.Leu278Val)
c.1111C>G (p.Leu371Val)
c.-4294966137C>G
c.-4294965858C>G
c.1033C>G (p.Leu345Val)
2g.232535172C>TCA351005970CHRNDc.1414C>T (p.Leu472Phe)
c.*596C>T (n.*596C>T)
c.*1055C>T (n.*1055C>T)
c.1369C>T (p.Leu457Phe)
c.832C>T (p.Leu278Phe)
c.1111C>T (p.Leu371Phe)
c.-4294966137C>T
c.-4294965858C>T
c.1033C>T (p.Leu345Phe)
 gnomAD v4
2g.232535173T>ACA351005973CHRNDc.1415T>A (p.Leu472His)
c.*597T>A (n.*597T>A)
c.*1056T>A (n.*1056T>A)
c.1370T>A (p.Leu457His)
c.833T>A (p.Leu278His)
c.1112T>A (p.Leu371His)
c.-4294966136T>A
c.-4294965857T>A
c.1034T>A (p.Leu345His)
 dbSNP
2g.232535173T>CCA351005972CHRNDc.1415T>C (p.Leu472Pro)
c.*597T>C (n.*597T>C)
c.*1056T>C (n.*1056T>C)
c.1370T>C (p.Leu457Pro)
c.833T>C (p.Leu278Pro)
c.1112T>C (p.Leu371Pro)
c.-4294966136T>C
c.-4294965857T>C
c.1034T>C (p.Leu345Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.232535173T>GCA351005971CHRNDc.1415T>G (p.Leu472Arg)
c.*597T>G (n.*597T>G)
c.*1056T>G (n.*1056T>G)
c.1370T>G (p.Leu457Arg)
c.833T>G (p.Leu278Arg)
c.1112T>G (p.Leu371Arg)
c.-4294966136T>G
c.-4294965857T>G
c.1034T>G (p.Leu345Arg)
2g.232535173T=CA1335314485CHRNDc.1415T= (p.Leu472=)
c.*597T= (n.*597T=)
c.*1056T= (n.*1056T=)
c.1370T= (p.Leu457=)
c.833T= (p.Leu278=)
c.1112T= (p.Leu371=)
c.-4294966136T=
c.-4294965857T=
c.1034T= (p.Leu345=)
2g.232535174C>ACA431809080CHRNDc.1416C>A (p.Leu472=)
c.*598C>A (n.*598C>A)
c.*1057C>A (n.*1057C>A)
c.1371C>A (p.Leu457=)
c.834C>A (p.Leu278=)
c.1113C>A (p.Leu371=)
c.-4294966135C>A
c.-4294965856C>A
c.1035C>A (p.Leu345=)
2g.232535174C=CA1335314486CHRNDc.1416C= (p.Leu472=)
c.*598C= (n.*598C=)
c.*1057C= (n.*1057C=)
c.1371C= (p.Leu457=)
c.834C= (p.Leu278=)
c.1113C= (p.Leu371=)
c.-4294966135C=
c.-4294965856C=
c.1035C= (p.Leu345=)
2g.232535174C>GCA431809081CHRNDc.1416C>G (p.Leu472=)
c.*598C>G (n.*598C>G)
c.*1057C>G (n.*1057C>G)
c.1371C>G (p.Leu457=)
c.834C>G (p.Leu278=)
c.1113C>G (p.Leu371=)
c.-4294966135C>G
c.-4294965856C>G
c.1035C>G (p.Leu345=)
2g.232535174C>TCA2168356CHRNDc.1416C>T (p.Leu472=)
c.*598C>T (n.*598C>T)
c.*1057C>T (n.*1057C>T)
c.1371C>T (p.Leu457=)
c.834C>T (p.Leu278=)
c.1113C>T (p.Leu371=)
c.-4294966135C>T
c.-4294965856C>T
c.1035C>T (p.Leu345=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535175T>ACA351005974CHRNDc.1417T>A (p.Cys473Ser)
c.*599T>A (n.*599T>A)
c.*1058T>A (n.*1058T>A)
c.1372T>A (p.Cys458Ser)
c.835T>A (p.Cys279Ser)
c.1114T>A (p.Cys372Ser)
c.-4294966134T>A
c.-4294965855T>A
c.1036T>A (p.Cys346Ser)
2g.232535175T>CCA351005975CHRNDc.1417T>C (p.Cys473Arg)
c.*599T>C (n.*599T>C)
c.*1058T>C (n.*1058T>C)
c.1372T>C (p.Cys458Arg)
c.835T>C (p.Cys279Arg)
c.1114T>C (p.Cys372Arg)
c.-4294966134T>C
c.-4294965855T>C
c.1036T>C (p.Cys346Arg)
2g.232535175T>GCA351005976CHRNDc.1417T>G (p.Cys473Gly)
c.*599T>G (n.*599T>G)
c.*1058T>G (n.*1058T>G)
c.1372T>G (p.Cys458Gly)
c.835T>G (p.Cys279Gly)
c.1114T>G (p.Cys372Gly)
c.-4294966134T>G
c.-4294965855T>G
c.1036T>G (p.Cys346Gly)
2g.232535175dupCA540310033CHRNDc.1417dup (p.Cys473LeufsTer?)
c.*599dup (n.*599dup)
c.*1058dup (n.*1058dup)
c.1372dup (p.Cys458LeufsTer?)
c.835dup (p.Cys279LeufsTer?)
c.1114dup (p.Cys372LeufsTer?)
c.-4294966134dup
c.-4294965855dup
c.1036dup (p.Cys346LeufsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535176G>ACA351005977CHRNDc.1418G>A (p.Cys473Tyr)
c.*600G>A (n.*600G>A)
c.*1059G>A (n.*1059G>A)
c.1373G>A (p.Cys458Tyr)
c.836G>A (p.Cys279Tyr)
c.1115G>A (p.Cys372Tyr)
c.-4294966133G>A
c.-4294965854G>A
c.1037G>A (p.Cys346Tyr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.232535176G>CCA351005978CHRNDc.1418G>C (p.Cys473Ser)
c.*600G>C (n.*600G>C)
c.*1059G>C (n.*1059G>C)
c.1373G>C (p.Cys458Ser)
c.836G>C (p.Cys279Ser)
c.1115G>C (p.Cys372Ser)
c.-4294966133G>C
c.-4294965854G>C
c.1037G>C (p.Cys346Ser)
 gnomAD v4
2g.232535176G=CA1335314487CHRNDc.1418G= (p.Cys473=)
c.*600G= (n.*600G=)
c.*1059G= (n.*1059G=)
c.1373G= (p.Cys458=)
c.836G= (p.Cys279=)
c.1115G= (p.Cys372=)
c.-4294966133G=
c.-4294965854G=
c.1037G= (p.Cys346=)
2g.232535176G>TCA351005979CHRNDc.1418G>T (p.Cys473Phe)
c.*600G>T (n.*600G>T)
c.*1059G>T (n.*1059G>T)
c.1373G>T (p.Cys458Phe)
c.836G>T (p.Cys279Phe)
c.1115G>T (p.Cys372Phe)
c.-4294966133G>T
c.-4294965854G>T
c.1037G>T (p.Cys346Phe)
2g.232535177C>ACA351005981CHRNDc.1419C>A (p.Cys473Ter)
c.*601C>A (n.*601C>A)
c.*1060C>A (n.*1060C>A)
c.1374C>A (p.Cys458Ter)
c.837C>A (p.Cys279Ter)
c.1116C>A (p.Cys372Ter)
c.-4294966132C>A
c.-4294965853C>A
c.1038C>A (p.Cys346Ter)
 gnomAD v4
2g.232535177C=CA1335314488CHRNDc.1419C= (p.Cys473=)
c.*601C= (n.*601C=)
c.*1060C= (n.*1060C=)
c.1374C= (p.Cys458=)
c.837C= (p.Cys279=)
c.1116C= (p.Cys372=)
c.-4294966132C=
c.-4294965853C=
c.1038C= (p.Cys346=)
2g.232535177C>GCA351005980CHRNDc.1419C>G (p.Cys473Trp)
c.*601C>G (n.*601C>G)
c.*1060C>G (n.*1060C>G)
c.1374C>G (p.Cys458Trp)
c.837C>G (p.Cys279Trp)
c.1116C>G (p.Cys372Trp)
c.-4294966132C>G
c.-4294965853C>G
c.1038C>G (p.Cys346Trp)
2g.232535177C>TCA431809085CHRNDc.1419C>T (p.Cys473=)
c.*601C>T (n.*601C>T)
c.*1060C>T (n.*1060C>T)
c.1374C>T (p.Cys458=)
c.837C>T (p.Cys279=)
c.1116C>T (p.Cys372=)
c.-4294966132C>T
c.-4294965853C>T
c.1038C>T (p.Cys346=)
 dbSNP gnomAD v2
2g.232535178C>ACA351005982CHRNDc.1420C>A (p.Leu474Met)
c.*602C>A (n.*602C>A)
c.*1061C>A (n.*1061C>A)
c.1375C>A (p.Leu459Met)
c.838C>A (p.Leu280Met)
c.1117C>A (p.Leu373Met)
c.-4294966131C>A
c.-4294965852C>A
c.1039C>A (p.Leu347Met)
2g.232535178C>GCA351005983CHRNDc.1420C>G (p.Leu474Val)
c.*602C>G (n.*602C>G)
c.*1061C>G (n.*1061C>G)
c.1375C>G (p.Leu459Val)
c.838C>G (p.Leu280Val)
c.1117C>G (p.Leu373Val)
c.-4294966131C>G
c.-4294965852C>G
c.1039C>G (p.Leu347Val)
2g.232535178C>TCA431809089CHRNDc.1420C>T (p.Leu474=)
c.*602C>T (n.*602C>T)
c.*1061C>T (n.*1061C>T)
c.1375C>T (p.Leu459=)
c.838C>T (p.Leu280=)
c.1117C>T (p.Leu373=)
c.-4294966131C>T
c.-4294965852C>T
c.1039C>T (p.Leu347=)
2g.232535179T>ACA351005984CHRNDc.1421T>A (p.Leu474Gln)
c.*603T>A (n.*603T>A)
c.*1062T>A (n.*1062T>A)
c.1376T>A (p.Leu459Gln)
c.839T>A (p.Leu280Gln)
c.1118T>A (p.Leu373Gln)
c.-4294966130T>A
c.-4294965851T>A
c.1040T>A (p.Leu347Gln)
2g.232535179T>CCA351005985CHRNDc.1421T>C (p.Leu474Pro)
c.*603T>C (n.*603T>C)
c.*1062T>C (n.*1062T>C)
c.1376T>C (p.Leu459Pro)
c.839T>C (p.Leu280Pro)
c.1118T>C (p.Leu373Pro)
c.-4294966130T>C
c.-4294965851T>C
c.1040T>C (p.Leu347Pro)
2g.232535179T>GCA351005986CHRNDc.1421T>G (p.Leu474Arg)
c.*603T>G (n.*603T>G)
c.*1062T>G (n.*1062T>G)
c.1376T>G (p.Leu459Arg)
c.839T>G (p.Leu280Arg)
c.1118T>G (p.Leu373Arg)
c.-4294966130T>G
c.-4294965851T>G
c.1040T>G (p.Leu347Arg)
2g.232535179_232535180delinsTGCA1335314489CHRNDc.1421_1422delinsTG (p.Leu474=)
c.*603_*604delinsTG (n.*603_*604delinsTG)
c.*1062_*1063delinsTG (n.*1062_*1063delinsTG)
c.1376_1377delinsTG (p.Leu459=)
c.839_840delinsTG (p.Leu280=)
c.1118_1119delinsTG (p.Leu373=)
c.-4294966130_-4294966129delinsTG
c.-4294965851_-4294965850delinsTG
c.1040_1041delinsTG (p.Leu347=)
2g.232535182_232535185delCA431809090CHRNDc.1424_1427del (p.Phe475TrpfsTer2)
c.*606_*609del (n.*606_*609del)
c.*1065_*1068del (n.*1065_*1068del)
c.1379_1382del (p.Phe460TrpfsTer2)
c.842_845del (p.Phe281TrpfsTer2)
c.1121_1124del (p.Phe374TrpfsTer2)
c.-4294966127_-4294966124del
c.-4294965848_-4294965845del
c.1043_1046del (p.Phe348TrpfsTer2)
2g.232535180delCA2168357CHRNDc.1422del (p.Phe475LeufsTer3)
c.*604del (n.*604del)
c.*1063del (n.*1063del)
c.1377del (p.Phe460LeufsTer3)
c.840del (p.Phe281LeufsTer3)
c.1119del (p.Phe374LeufsTer3)
c.-4294966129del
c.-4294965850del
c.1041del (p.Phe348LeufsTer3)
 dbSNP ExAC gnomAD v2 COSMIC
2g.232535180G>ACA431809091CHRNDc.1422G>A (p.Leu474=)
c.*604G>A (n.*604G>A)
c.*1063G>A (n.*1063G>A)
c.1377G>A (p.Leu459=)
c.840G>A (p.Leu280=)
c.1119G>A (p.Leu373=)
c.-4294966129G>A
c.-4294965850G>A
c.1041G>A (p.Leu347=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.232535180G>CCA431809093CHRNDc.1422G>C (p.Leu474=)
c.*604G>C (n.*604G>C)
c.*1063G>C (n.*1063G>C)
c.1377G>C (p.Leu459=)
c.840G>C (p.Leu280=)
c.1119G>C (p.Leu373=)
c.-4294966129G>C
c.-4294965850G>C
c.1041G>C (p.Leu347=)
2g.232535180G=CA1335314490CHRNDc.1422G= (p.Leu474=)
c.*604G= (n.*604G=)
c.*1063G= (n.*1063G=)
c.1377G= (p.Leu459=)
c.840G= (p.Leu280=)
c.1119G= (p.Leu373=)
c.-4294966129G=
c.-4294965850G=
c.1041G= (p.Leu347=)
2g.232535180G>TCA431809092CHRNDc.1422G>T (p.Leu474=)
c.*604G>T (n.*604G>T)
c.*1063G>T (n.*1063G>T)
c.1377G>T (p.Leu459=)
c.840G>T (p.Leu280=)
c.1119G>T (p.Leu373=)
c.-4294966129G>T
c.-4294965850G>T
c.1041G>T (p.Leu347=)
2g.232535181T>ACA351005987CHRNDc.1423T>A (p.Phe475Ile)
c.*605T>A (n.*605T>A)
c.*1064T>A (n.*1064T>A)
c.1378T>A (p.Phe460Ile)
c.841T>A (p.Phe281Ile)
c.1120T>A (p.Phe374Ile)
c.-4294966128T>A
c.-4294965849T>A
c.1042T>A (p.Phe348Ile)
2g.232535181T>CCA351005989CHRNDc.1423T>C (p.Phe475Leu)
c.*605T>C (n.*605T>C)
c.*1064T>C (n.*1064T>C)
c.1378T>C (p.Phe460Leu)
c.841T>C (p.Phe281Leu)
c.1120T>C (p.Phe374Leu)
c.-4294966128T>C
c.-4294965849T>C
c.1042T>C (p.Phe348Leu)
2g.232535181T>GCA351005988CHRNDc.1423T>G (p.Phe475Val)
c.*605T>G (n.*605T>G)
c.*1064T>G (n.*1064T>G)
c.1378T>G (p.Phe460Val)
c.841T>G (p.Phe281Val)
c.1120T>G (p.Phe374Val)
c.-4294966128T>G
c.-4294965849T>G
c.1042T>G (p.Phe348Val)
2g.232535182T>ACA351005990CHRNDc.1424T>A (p.Phe475Tyr)
c.*606T>A (n.*606T>A)
c.*1065T>A (n.*1065T>A)
c.1379T>A (p.Phe460Tyr)
c.842T>A (p.Phe281Tyr)
c.1121T>A (p.Phe374Tyr)
c.-4294966127T>A
c.-4294965848T>A
c.1043T>A (p.Phe348Tyr)
2g.232535182T>CCA351005991CHRNDc.1424T>C (p.Phe475Ser)
c.*606T>C (n.*606T>C)
c.*1065T>C (n.*1065T>C)
c.1379T>C (p.Phe460Ser)
c.842T>C (p.Phe281Ser)
c.1121T>C (p.Phe374Ser)
c.-4294966127T>C
c.-4294965848T>C
c.1043T>C (p.Phe348Ser)
 dbSNP gnomAD v4
2g.232535182T>GCA351005992CHRNDc.1424T>G (p.Phe475Cys)
c.*606T>G (n.*606T>G)
c.*1065T>G (n.*1065T>G)
c.1379T>G (p.Phe460Cys)
c.842T>G (p.Phe281Cys)
c.1121T>G (p.Phe374Cys)
c.-4294966127T>G
c.-4294965848T>G
c.1043T>G (p.Phe348Cys)
2g.232535182T=CA1335314491CHRNDc.1424T= (p.Phe475=)
c.*606T= (n.*606T=)
c.*1065T= (n.*1065T=)
c.1379T= (p.Phe460=)
c.842T= (p.Phe281=)
c.1121T= (p.Phe374=)
c.-4294966127T=
c.-4294965848T=
c.1043T= (p.Phe348=)
2g.232535183T>ACA351005993CHRNDc.1425T>A (p.Phe475Leu)
c.*607T>A (n.*607T>A)
c.*1066T>A (n.*1066T>A)
c.1380T>A (p.Phe460Leu)
c.843T>A (p.Phe281Leu)
c.1122T>A (p.Phe374Leu)
c.-4294966126T>A
c.-4294965847T>A
c.1044T>A (p.Phe348Leu)
2g.232535183T>CCA431809097CHRNDc.1425T>C (p.Phe475=)
c.*607T>C (n.*607T>C)
c.*1066T>C (n.*1066T>C)
c.1380T>C (p.Phe460=)
c.843T>C (p.Phe281=)
c.1122T>C (p.Phe374=)
c.-4294966126T>C
c.-4294965847T>C
c.1044T>C (p.Phe348=)
2g.232535183T>GCA351005994CHRNDc.1425T>G (p.Phe475Leu)
c.*607T>G (n.*607T>G)
c.*1066T>G (n.*1066T>G)
c.1380T>G (p.Phe460Leu)
c.843T>G (p.Phe281Leu)
c.1122T>G (p.Phe374Leu)
c.-4294966126T>G
c.-4294965847T>G
c.1044T>G (p.Phe348Leu)
2g.232535184G>ACA351005995CHRNDc.1426G>A (p.Val476Met)
c.*608G>A (n.*608G>A)
c.*1067G>A (n.*1067G>A)
c.1381G>A (p.Val461Met)
c.844G>A (p.Val282Met)
c.1123G>A (p.Val375Met)
c.-4294966125G>A
c.-4294965846G>A
c.1045G>A (p.Val349Met)
2g.232535184G>CCA66958416CHRNDc.1426G>C (p.Val476Leu)
c.*608G>C (n.*608G>C)
c.*1067G>C (n.*1067G>C)
c.1381G>C (p.Val461Leu)
c.844G>C (p.Val282Leu)
c.1123G>C (p.Val375Leu)
c.-4294966125G>C
c.-4294965846G>C
c.1045G>C (p.Val349Leu)
 dbSNP gnomAD v4
2g.232535184G=CA1335314492CHRNDc.1426G= (p.Val476=)
c.*608G= (n.*608G=)
c.*1067G= (n.*1067G=)
c.1381G= (p.Val461=)
c.844G= (p.Val282=)
c.1123G= (p.Val375=)
c.-4294966125G=
c.-4294965846G=
c.1045G= (p.Val349=)
2g.232535184G>TCA351005996CHRNDc.1426G>T (p.Val476Leu)
c.*608G>T (n.*608G>T)
c.*1067G>T (n.*1067G>T)
c.1381G>T (p.Val461Leu)
c.844G>T (p.Val282Leu)
c.1123G>T (p.Val375Leu)
c.-4294966125G>T
c.-4294965846G>T
c.1045G>T (p.Val349Leu)
2g.232535185T>ACA351005997CHRNDc.1427T>A (p.Val476Glu)
c.*609T>A (n.*609T>A)
c.*1068T>A (n.*1068T>A)
c.1382T>A (p.Val461Glu)
c.845T>A (p.Val282Glu)
c.1124T>A (p.Val375Glu)
c.-4294966124T>A
c.-4294965845T>A
c.1046T>A (p.Val349Glu)
2g.232535185T>CCA351005998CHRNDc.1427T>C (p.Val476Ala)
c.*609T>C (n.*609T>C)
c.*1068T>C (n.*1068T>C)
c.1382T>C (p.Val461Ala)
c.845T>C (p.Val282Ala)
c.1124T>C (p.Val375Ala)
c.-4294966124T>C
c.-4294965845T>C
c.1046T>C (p.Val349Ala)
2g.232535185T>GCA351005999CHRNDc.1427T>G (p.Val476Gly)
c.*609T>G (n.*609T>G)
c.*1068T>G (n.*1068T>G)
c.1382T>G (p.Val461Gly)
c.845T>G (p.Val282Gly)
c.1124T>G (p.Val375Gly)
c.-4294966124T>G
c.-4294965845T>G
c.1046T>G (p.Val349Gly)
2g.232535186G>ACA2168358CHRNDc.1428G>A (p.Val476=)
c.*610G>A (n.*610G>A)
c.*1069G>A (n.*1069G>A)
c.1383G>A (p.Val461=)
c.846G>A (p.Val282=)
c.1125G>A (p.Val375=)
c.-4294966123G>A
c.-4294965844G>A
c.1047G>A (p.Val349=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535186G>CCA431809100CHRNDc.1428G>C (p.Val476=)
c.*610G>C (n.*610G>C)
c.*1069G>C (n.*1069G>C)
c.1383G>C (p.Val461=)
c.846G>C (p.Val282=)
c.1125G>C (p.Val375=)
c.-4294966123G>C
c.-4294965844G>C
c.1047G>C (p.Val349=)
2g.232535186G=CA1335314493CHRNDc.1428G= (p.Val476=)
c.*610G= (n.*610G=)
c.*1069G= (n.*1069G=)
c.1383G= (p.Val461=)
c.846G= (p.Val282=)
c.1125G= (p.Val375=)
c.-4294966123G=
c.-4294965844G=
c.1047G= (p.Val349=)
2g.232535186G>TCA431809101CHRNDc.1428G>T (p.Val476=)
c.*610G>T (n.*610G>T)
c.*1069G>T (n.*1069G>T)
c.1383G>T (p.Val461=)
c.846G>T (p.Val282=)
c.1125G>T (p.Val375=)
c.-4294966123G>T
c.-4294965844G>T
c.1047G>T (p.Val349=)
2g.232535187G>ACA351006002CHRNDc.1429G>A (p.Val477Met)
c.*611G>A (n.*611G>A)
c.*1070G>A (n.*1070G>A)
c.1384G>A (p.Val462Met)
c.847G>A (p.Val283Met)
c.1126G>A (p.Val376Met)
c.-4294966122G>A
c.-4294965843G>A
c.1048G>A (p.Val350Met)
 gnomAD v4
2g.232535187G>CCA351006000CHRNDc.1429G>C (p.Val477Leu)
c.*611G>C (n.*611G>C)
c.*1070G>C (n.*1070G>C)
c.1384G>C (p.Val462Leu)
c.847G>C (p.Val283Leu)
c.1126G>C (p.Val376Leu)
c.-4294966122G>C
c.-4294965843G>C
c.1048G>C (p.Val350Leu)
2g.232535187G>TCA351006001CHRNDc.1429G>T (p.Val477Leu)
c.*611G>T (n.*611G>T)
c.*1070G>T (n.*1070G>T)
c.1384G>T (p.Val462Leu)
c.847G>T (p.Val283Leu)
c.1126G>T (p.Val376Leu)
c.-4294966122G>T
c.-4294965843G>T
c.1048G>T (p.Val350Leu)
2g.232535188T>ACA351006003CHRNDc.1430T>A (p.Val477Glu)
c.*612T>A (n.*612T>A)
c.*1071T>A (n.*1071T>A)
c.1385T>A (p.Val462Glu)
c.848T>A (p.Val283Glu)
c.1127T>A (p.Val376Glu)
c.-4294966121T>A
c.-4294965842T>A
c.1049T>A (p.Val350Glu)
2g.232535188T>CCA351006004CHRNDc.1430T>C (p.Val477Ala)
c.*612T>C (n.*612T>C)
c.*1071T>C (n.*1071T>C)
c.1385T>C (p.Val462Ala)
c.848T>C (p.Val283Ala)
c.1127T>C (p.Val376Ala)
c.-4294966121T>C
c.-4294965842T>C
c.1049T>C (p.Val350Ala)
2g.232535188T>GCA351006005CHRNDc.1430T>G (p.Val477Gly)
c.*612T>G (n.*612T>G)
c.*1071T>G (n.*1071T>G)
c.1385T>G (p.Val462Gly)
c.848T>G (p.Val283Gly)
c.1127T>G (p.Val376Gly)
c.-4294966121T>G
c.-4294965842T>G
c.1049T>G (p.Val350Gly)
2g.232535189G>ACA431809103CHRNDc.1431G>A (p.Val477=)
c.*613G>A (n.*613G>A)
c.*1072G>A (n.*1072G>A)
c.1386G>A (p.Val462=)
c.849G>A (p.Val283=)
c.1128G>A (p.Val376=)
c.-4294966120G>A
c.-4294965841G>A
c.1050G>A (p.Val350=)
2g.232535189G>CCA431809104CHRNDc.1431G>C (p.Val477=)
c.*613G>C (n.*613G>C)
c.*1072G>C (n.*1072G>C)
c.1386G>C (p.Val462=)
c.849G>C (p.Val283=)
c.1128G>C (p.Val376=)
c.-4294966120G>C
c.-4294965841G>C
c.1050G>C (p.Val350=)
2g.232535189G>TCA431809105CHRNDc.1431G>T (p.Val477=)
c.*613G>T (n.*613G>T)
c.*1072G>T (n.*1072G>T)
c.1386G>T (p.Val462=)
c.849G>T (p.Val283=)
c.1128G>T (p.Val376=)
c.-4294966120G>T
c.-4294965841G>T
c.1050G>T (p.Val350=)
2g.232535190A>CCA351006006CHRNDc.1432A>C (p.Thr478Pro)
c.*614A>C (n.*614A>C)
c.*1073A>C (n.*1073A>C)
c.1387A>C (p.Thr463Pro)
c.850A>C (p.Thr284Pro)
c.1129A>C (p.Thr377Pro)
c.-4294966119A>C
c.-4294965840A>C
c.1051A>C (p.Thr351Pro)
2g.232535190A>GCA351006007CHRNDc.1432A>G (p.Thr478Ala)
c.*614A>G (n.*614A>G)
c.*1073A>G (n.*1073A>G)
c.1387A>G (p.Thr463Ala)
c.850A>G (p.Thr284Ala)
c.1129A>G (p.Thr377Ala)
c.-4294966119A>G
c.-4294965840A>G
c.1051A>G (p.Thr351Ala)
2g.232535190A>TCA351006008CHRNDc.1432A>T (p.Thr478Ser)
c.*614A>T (n.*614A>T)
c.*1073A>T (n.*1073A>T)
c.1387A>T (p.Thr463Ser)
c.850A>T (p.Thr284Ser)
c.1129A>T (p.Thr377Ser)
c.-4294966119A>T
c.-4294965840A>T
c.1051A>T (p.Thr351Ser)
2g.232535191C>ACA351006009CHRNDc.1433C>A (p.Thr478Lys)
c.*615C>A (n.*615C>A)
c.*1074C>A (n.*1074C>A)
c.1388C>A (p.Thr463Lys)
c.851C>A (p.Thr284Lys)
c.1130C>A (p.Thr377Lys)
c.-4294966118C>A
c.-4294965839C>A
c.1052C>A (p.Thr351Lys)
2g.232535191C=CA1335314494CHRNDc.1433C= (p.Thr478=)
c.*615C= (n.*615C=)
c.*1074C= (n.*1074C=)
c.1388C= (p.Thr463=)
c.851C= (p.Thr284=)
c.1130C= (p.Thr377=)
c.-4294966118C=
c.-4294965839C=
c.1052C= (p.Thr351=)
2g.232535191C>GCA351006010CHRNDc.1433C>G (p.Thr478Arg)
c.*615C>G (n.*615C>G)
c.*1074C>G (n.*1074C>G)
c.1388C>G (p.Thr463Arg)
c.851C>G (p.Thr284Arg)
c.1130C>G (p.Thr377Arg)
c.-4294966118C>G
c.-4294965839C>G
c.1052C>G (p.Thr351Arg)
2g.232535191C>TCA2168359CHRNDc.1433C>T (p.Thr478Met)
c.*615C>T (n.*615C>T)
c.*1074C>T (n.*1074C>T)
c.1388C>T (p.Thr463Met)
c.851C>T (p.Thr284Met)
c.1130C>T (p.Thr377Met)
c.-4294966118C>T
c.-4294965839C>T
c.1052C>T (p.Thr351Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535192G>ACA2168360CHRNDc.1434G>A (p.Thr478=)
c.*616G>A (n.*616G>A)
c.*1075G>A (n.*1075G>A)
c.1389G>A (p.Thr463=)
c.852G>A (p.Thr284=)
c.1131G>A (p.Thr377=)
c.-4294966117G>A
c.-4294965838G>A
c.1053G>A (p.Thr351=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535192G>CCA431809106CHRNDc.1434G>C (p.Thr478=)
c.*616G>C (n.*616G>C)
c.*1075G>C (n.*1075G>C)
c.1389G>C (p.Thr463=)
c.852G>C (p.Thr284=)
c.1131G>C (p.Thr377=)
c.-4294966117G>C
c.-4294965838G>C
c.1053G>C (p.Thr351=)
2g.232535192G=CA1335314495CHRNDc.1434G= (p.Thr478=)
c.*616G= (n.*616G=)
c.*1075G= (n.*1075G=)
c.1389G= (p.Thr463=)
c.852G= (p.Thr284=)
c.1131G= (p.Thr377=)
c.-4294966117G=
c.-4294965838G=
c.1053G= (p.Thr351=)
2g.232535192G>TCA431809107CHRNDc.1434G>T (p.Thr478=)
c.*616G>T (n.*616G>T)
c.*1075G>T (n.*1075G>T)
c.1389G>T (p.Thr463=)
c.852G>T (p.Thr284=)
c.1131G>T (p.Thr377=)
c.-4294966117G>T
c.-4294965838G>T
c.1053G>T (p.Thr351=)
2g.232535193C>ACA351006011CHRNDc.1435C>A (p.Pro479Thr)
c.*617C>A (n.*617C>A)
c.*1076C>A (n.*1076C>A)
c.1390C>A (p.Pro464Thr)
c.853C>A (p.Pro285Thr)
c.1132C>A (p.Pro378Thr)
c.-4294966116C>A
c.-4294965837C>A
c.1054C>A (p.Pro352Thr)
 ClinVar gnomAD v4
2g.232535193C=CA1335314496CHRNDc.1435C= (p.Pro479=)
c.*617C= (n.*617C=)
c.*1076C= (n.*1076C=)
c.1390C= (p.Pro464=)
c.853C= (p.Pro285=)
c.1132C= (p.Pro378=)
c.-4294966116C=
c.-4294965837C=
c.1054C= (p.Pro352=)
2g.232535193C>GCA2168361CHRNDc.1435C>G (p.Pro479Ala)
c.*617C>G (n.*617C>G)
c.*1076C>G (n.*1076C>G)
c.1390C>G (p.Pro464Ala)
c.853C>G (p.Pro285Ala)
c.1132C>G (p.Pro378Ala)
c.-4294966116C>G
c.-4294965837C>G
c.1054C>G (p.Pro352Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535193C>TCA351006012CHRNDc.1435C>T (p.Pro479Ser)
c.*617C>T (n.*617C>T)
c.*1076C>T (n.*1076C>T)
c.1390C>T (p.Pro464Ser)
c.853C>T (p.Pro285Ser)
c.1132C>T (p.Pro378Ser)
c.-4294966116C>T
c.-4294965837C>T
c.1054C>T (p.Pro352Ser)
2g.232535194C>ACA351006015CHRNDc.1436C>A (p.Pro479His)
c.*618C>A (n.*618C>A)
c.*1077C>A (n.*1077C>A)
c.1391C>A (p.Pro464His)
c.854C>A (p.Pro285His)
c.1133C>A (p.Pro378His)
c.-4294966115C>A
c.-4294965836C>A
c.1055C>A (p.Pro352His)
2g.232535194C>GCA351006013CHRNDc.1436C>G (p.Pro479Arg)
c.*618C>G (n.*618C>G)
c.*1077C>G (n.*1077C>G)
c.1391C>G (p.Pro464Arg)
c.854C>G (p.Pro285Arg)
c.1133C>G (p.Pro378Arg)
c.-4294966115C>G
c.-4294965836C>G
c.1055C>G (p.Pro352Arg)
 ClinVar
2g.232535194C>TCA351006014CHRNDc.1436C>T (p.Pro479Leu)
c.*618C>T (n.*618C>T)
c.*1077C>T (n.*1077C>T)
c.1391C>T (p.Pro464Leu)
c.854C>T (p.Pro285Leu)
c.1133C>T (p.Pro378Leu)
c.-4294966115C>T
c.-4294965836C>T
c.1055C>T (p.Pro352Leu)
2g.232535195T>ACA431809110CHRNDc.1437T>A (p.Pro479=)
c.*619T>A (n.*619T>A)
c.*1078T>A (n.*1078T>A)
c.1392T>A (p.Pro464=)
c.855T>A (p.Pro285=)
c.1134T>A (p.Pro378=)
c.-4294966114T>A
c.-4294965835T>A
c.1056T>A (p.Pro352=)
2g.232535195T>CCA431809109CHRNDc.1437T>C (p.Pro479=)
c.*619T>C (n.*619T>C)
c.*1078T>C (n.*1078T>C)
c.1392T>C (p.Pro464=)
c.855T>C (p.Pro285=)
c.1134T>C (p.Pro378=)
c.-4294966114T>C
c.-4294965835T>C
c.1056T>C (p.Pro352=)
 gnomAD v4
2g.232535195T>GCA431809108CHRNDc.1437T>G (p.Pro479=)
c.*619T>G (n.*619T>G)
c.*1078T>G (n.*1078T>G)
c.1392T>G (p.Pro464=)
c.855T>G (p.Pro285=)
c.1134T>G (p.Pro378=)
c.-4294966114T>G
c.-4294965835T>G
c.1056T>G (p.Pro352=)
2g.232535196G>ACA2168362CHRNDc.1438G>A (p.Val480Ile)
c.*620G>A (n.*620G>A)
c.*1079G>A (n.*1079G>A)
c.1393G>A (p.Val465Ile)
c.856G>A (p.Val286Ile)
c.1135G>A (p.Val379Ile)
c.-4294966113G>A
c.-4294965834G>A
c.1057G>A (p.Val353Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232535196G>CCA351006016CHRNDc.1438G>C (p.Val480Leu)
c.*620G>C (n.*620G>C)
c.*1079G>C (n.*1079G>C)
c.1393G>C (p.Val465Leu)
c.856G>C (p.Val286Leu)
c.1135G>C (p.Val379Leu)
c.-4294966113G>C
c.-4294965834G>C
c.1057G>C (p.Val353Leu)
2g.232535196G=CA1335314497CHRNDc.1438G= (p.Val480=)
c.*620G= (n.*620G=)
c.*1079G= (n.*1079G=)
c.1393G= (p.Val465=)
c.856G= (p.Val286=)
c.1135G= (p.Val379=)
c.-4294966113G=
c.-4294965834G=
c.1057G= (p.Val353=)
2g.232535196G>TCA351006017CHRNDc.1438G>T (p.Val480Phe)
c.*620G>T (n.*620G>T)
c.*1079G>T (n.*1079G>T)
c.1393G>T (p.Val465Phe)
c.856G>T (p.Val286Phe)
c.1135G>T (p.Val379Phe)
c.-4294966113G>T
c.-4294965834G>T
c.1057G>T (p.Val353Phe)
2g.232535197T>ACA351006018CHRNDc.1439T>A (p.Val480Asp)
c.*621T>A (n.*621T>A)
c.*1080T>A (n.*1080T>A)
c.1394T>A (p.Val465Asp)
c.857T>A (p.Val286Asp)
c.1136T>A (p.Val379Asp)
c.-4294966112T>A
c.-4294965833T>A
c.1058T>A (p.Val353Asp)
2g.232535197T>CCA351006019CHRNDc.1439T>C (p.Val480Ala)
c.*621T>C (n.*621T>C)
c.*1080T>C (n.*1080T>C)
c.1394T>C (p.Val465Ala)
c.857T>C (p.Val286Ala)
c.1136T>C (p.Val379Ala)
c.-4294966112T>C
c.-4294965833T>C
c.1058T>C (p.Val353Ala)
 dbSNP
2g.232535197T>GCA351006020CHRNDc.1439T>G (p.Val480Gly)
c.*621T>G (n.*621T>G)
c.*1080T>G (n.*1080T>G)
c.1394T>G (p.Val465Gly)
c.857T>G (p.Val286Gly)
c.1136T>G (p.Val379Gly)
c.-4294966112T>G
c.-4294965833T>G
c.1058T>G (p.Val353Gly)
2g.232535197T=CA1335314498CHRNDc.1439T= (p.Val480=)
c.*621T= (n.*621T=)
c.*1080T= (n.*1080T=)
c.1394T= (p.Val465=)
c.857T= (p.Val286=)
c.1136T= (p.Val379=)
c.-4294966112T=
c.-4294965833T=
c.1058T= (p.Val353=)
2g.232535198C>ACA431809113CHRNDc.1440C>A (p.Val480=)
c.*622C>A (n.*622C>A)
c.*1081C>A (n.*1081C>A)
c.1395C>A (p.Val465=)
c.858C>A (p.Val286=)
c.1137C>A (p.Val379=)
c.-4294966111C>A
c.-4294965832C>A
c.1059C>A (p.Val353=)
2g.232535198C=CA1335314499CHRNDc.1440C= (p.Val480=)
c.*622C= (n.*622C=)
c.*1081C= (n.*1081C=)
c.1395C= (p.Val465=)
c.858C= (p.Val286=)
c.1137C= (p.Val379=)
c.-4294966111C=
c.-4294965832C=
c.1059C= (p.Val353=)
2g.232535198C>GCA431809112CHRNDc.1440C>G (p.Val480=)
c.*622C>G (n.*622C>G)
c.*1081C>G (n.*1081C>G)
c.1395C>G (p.Val465=)
c.858C>G (p.Val286=)
c.1137C>G (p.Val379=)
c.-4294966111C>G
c.-4294965832C>G
c.1059C>G (p.Val353=)
2g.232535198C>TCA431809111CHRNDc.1440C>T (p.Val480=)
c.*622C>T (n.*622C>T)
c.*1081C>T (n.*1081C>T)
c.1395C>T (p.Val465=)
c.858C>T (p.Val286=)
c.1137C>T (p.Val379=)
c.-4294966111C>T
c.-4294965832C>T
c.1059C>T (p.Val353=)
 dbSNP gnomAD v2 gnomAD v4
2g.232535199A>CCA351006021CHRNDc.1441A>C (p.Met481Leu)
c.*623A>C (n.*623A>C)
c.*1082A>C (n.*1082A>C)
c.1396A>C (p.Met466Leu)
c.859A>C (p.Met287Leu)
c.1138A>C (p.Met380Leu)
c.-4294966110A>C
c.-4294965831A>C
c.1060A>C (p.Met354Leu)
2g.232535199A>GCA351006022CHRNDc.1441A>G (p.Met481Val)
c.*623A>G (n.*623A>G)
c.*1082A>G (n.*1082A>G)
c.1396A>G (p.Met466Val)
c.859A>G (p.Met287Val)
c.1138A>G (p.Met380Val)
c.-4294966110A>G
c.-4294965831A>G
c.1060A>G (p.Met354Val)
 gnomAD v4
2g.232535199A>TCA351006023CHRNDc.1441A>T (p.Met481Leu)
c.*623A>T (n.*623A>T)
c.*1082A>T (n.*1082A>T)
c.1396A>T (p.Met466Leu)
c.859A>T (p.Met287Leu)
c.1138A>T (p.Met380Leu)
c.-4294966110A>T
c.-4294965831A>T
c.1060A>T (p.Met354Leu)
2g.232535199_232535201delCA2573135631CHRNDc.1441_1443del (p.Met481del)
c.*623_*625del (n.*623_*625del)
c.*1082_*1084del (n.*1082_*1084del)
c.1396_1398del (p.Met466del)
c.859_861del (p.Met287del)
c.1138_1140del (p.Met380del)
c.-4294966110_-4294966108del
c.-4294965831_-4294965829del
c.1060_1062del (p.Met354del)
 ClinVar dbSNP gnomAD v4
2g.232535200T>ACA351006024CHRNDc.1442T>A (p.Met481Lys)
c.*624T>A (n.*624T>A)
c.*1083T>A (n.*1083T>A)
c.1397T>A (p.Met466Lys)
c.860T>A (p.Met287Lys)
c.1139T>A (p.Met380Lys)
c.-4294966109T>A
c.-4294965830T>A
c.1061T>A (p.Met354Lys)
2g.232535200T>CCA2168363CHRNDc.1442T>C (p.Met481Thr)
c.*624T>C (n.*624T>C)
c.*1083T>C (n.*1083T>C)
c.1397T>C (p.Met466Thr)
c.860T>C (p.Met287Thr)
c.1139T>C (p.Met380Thr)
c.-4294966109T>C
c.-4294965830T>C
c.1061T>C (p.Met354Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535200T>GCA351006025CHRNDc.1442T>G (p.Met481Arg)
c.*624T>G (n.*624T>G)
c.*1083T>G (n.*1083T>G)
c.1397T>G (p.Met466Arg)
c.860T>G (p.Met287Arg)
c.1139T>G (p.Met380Arg)
c.-4294966109T>G
c.-4294965830T>G
c.1061T>G (p.Met354Arg)
2g.232535200T=CA1335314500CHRNDc.1442T= (p.Met481=)
c.*624T= (n.*624T=)
c.*1083T= (n.*1083T=)
c.1397T= (p.Met466=)
c.860T= (p.Met287=)
c.1139T= (p.Met380=)
c.-4294966109T=
c.-4294965830T=
c.1061T= (p.Met354=)
2g.232535206_232535208delCA2580614110CHRNDc.1448_1450del (p.Val483del)
c.*630_*632del (n.*630_*632del)
c.*1089_*1091del (n.*1089_*1091del)
c.1403_1405del (p.Val468del)
c.866_868del (p.Val289del)
c.1145_1147del (p.Val382del)
c.-4294966103_-4294966101del
c.-4294965824_-4294965822del
c.1067_1069del (p.Val356del)
 ClinVar
2g.232535201G>ACA351006026CHRNDc.1443G>A (p.Met481Ile)
c.*625G>A (n.*625G>A)
c.*1084G>A (n.*1084G>A)
c.1398G>A (p.Met466Ile)
c.861G>A (p.Met287Ile)
c.1140G>A (p.Met380Ile)
c.-4294966108G>A
c.-4294965829G>A
c.1062G>A (p.Met354Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535201G>CCA351006028CHRNDc.1443G>C (p.Met481Ile)
c.*625G>C (n.*625G>C)
c.*1084G>C (n.*1084G>C)
c.1398G>C (p.Met466Ile)
c.861G>C (p.Met287Ile)
c.1140G>C (p.Met380Ile)
c.-4294966108G>C
c.-4294965829G>C
c.1062G>C (p.Met354Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.232535201G=CA1335314501CHRNDc.1443G= (p.Met481=)
c.*625G= (n.*625G=)
c.*1084G= (n.*1084G=)
c.1398G= (p.Met466=)
c.861G= (p.Met287=)
c.1140G= (p.Met380=)
c.-4294966108G=
c.-4294965829G=
c.1062G= (p.Met354=)
2g.232535201G>TCA351006027CHRNDc.1443G>T (p.Met481Ile)
c.*625G>T (n.*625G>T)
c.*1084G>T (n.*1084G>T)
c.1398G>T (p.Met466Ile)
c.861G>T (p.Met287Ile)
c.1140G>T (p.Met380Ile)
c.-4294966108G>T
c.-4294965829G>T
c.1062G>T (p.Met354Ile)
2g.232535202G>ACA351006029CHRNDc.1444G>A (p.Val482Met)
c.*626G>A (n.*626G>A)
c.*1085G>A (n.*1085G>A)
c.1399G>A (p.Val467Met)
c.862G>A (p.Val288Met)
c.1141G>A (p.Val381Met)
c.-4294966107G>A
c.-4294965828G>A
c.1063G>A (p.Val355Met)
2g.232535202G>CCA351006031CHRNDc.1444G>C (p.Val482Leu)
c.*626G>C (n.*626G>C)
c.*1085G>C (n.*1085G>C)
c.1399G>C (p.Val467Leu)
c.862G>C (p.Val288Leu)
c.1141G>C (p.Val381Leu)
c.-4294966107G>C
c.-4294965828G>C
c.1063G>C (p.Val355Leu)
 ClinVar
2g.232535202G>TCA351006030CHRNDc.1444G>T (p.Val482Leu)
c.*626G>T (n.*626G>T)
c.*1085G>T (n.*1085G>T)
c.1399G>T (p.Val467Leu)
c.862G>T (p.Val288Leu)
c.1141G>T (p.Val381Leu)
c.-4294966107G>T
c.-4294965828G>T
c.1063G>T (p.Val355Leu)
2g.232535203T>ACA351006032CHRNDc.1445T>A (p.Val482Glu)
c.*627T>A (n.*627T>A)
c.*1086T>A (n.*1086T>A)
c.1400T>A (p.Val467Glu)
c.863T>A (p.Val288Glu)
c.1142T>A (p.Val381Glu)
c.-4294966106T>A
c.-4294965827T>A
c.1064T>A (p.Val355Glu)
2g.232535203T>CCA351006033CHRNDc.1445T>C (p.Val482Ala)
c.*627T>C (n.*627T>C)
c.*1086T>C (n.*1086T>C)
c.1400T>C (p.Val467Ala)
c.863T>C (p.Val288Ala)
c.1142T>C (p.Val381Ala)
c.-4294966106T>C
c.-4294965827T>C
c.1064T>C (p.Val355Ala)
 gnomAD v4
2g.232535203T>GCA351006034CHRNDc.1445T>G (p.Val482Gly)
c.*627T>G (n.*627T>G)
c.*1086T>G (n.*1086T>G)
c.1400T>G (p.Val467Gly)
c.863T>G (p.Val288Gly)
c.1142T>G (p.Val381Gly)
c.-4294966106T>G
c.-4294965827T>G
c.1064T>G (p.Val355Gly)
2g.232535204G>ACA431809115CHRNDc.1446G>A (p.Val482=)
c.*628G>A (n.*628G>A)
c.*1087G>A (n.*1087G>A)
c.1401G>A (p.Val467=)
c.864G>A (p.Val288=)
c.1143G>A (p.Val381=)
c.-4294966105G>A
c.-4294965826G>A
c.1065G>A (p.Val355=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535204G>CCA431809116CHRNDc.1446G>C (p.Val482=)
c.*628G>C (n.*628G>C)
c.*1087G>C (n.*1087G>C)
c.1401G>C (p.Val467=)
c.864G>C (p.Val288=)
c.1143G>C (p.Val381=)
c.-4294966105G>C
c.-4294965826G>C
c.1065G>C (p.Val355=)
2g.232535204G=CA1335314502CHRNDc.1446G= (p.Val482=)
c.*628G= (n.*628G=)
c.*1087G= (n.*1087G=)
c.1401G= (p.Val467=)
c.864G= (p.Val288=)
c.1143G= (p.Val381=)
c.-4294966105G=
c.-4294965826G=
c.1065G= (p.Val355=)
2g.232535204G>TCA431809117CHRNDc.1446G>T (p.Val482=)
c.*628G>T (n.*628G>T)
c.*1087G>T (n.*1087G>T)
c.1401G>T (p.Val467=)
c.864G>T (p.Val288=)
c.1143G>T (p.Val381=)
c.-4294966105G>T
c.-4294965826G>T
c.1065G>T (p.Val355=)
2g.232535205G>ACA351006035CHRNDc.1447G>A (p.Val483Met)
c.*629G>A (n.*629G>A)
c.*1088G>A (n.*1088G>A)
c.1402G>A (p.Val468Met)
c.865G>A (p.Val289Met)
c.1144G>A (p.Val382Met)
c.-4294966104G>A
c.-4294965825G>A
c.1066G>A (p.Val356Met)
2g.232535205G>CCA351006036CHRNDc.1447G>C (p.Val483Leu)
c.*629G>C (n.*629G>C)
c.*1088G>C (n.*1088G>C)
c.1402G>C (p.Val468Leu)
c.865G>C (p.Val289Leu)
c.1144G>C (p.Val382Leu)
c.-4294966104G>C
c.-4294965825G>C
c.1066G>C (p.Val356Leu)
2g.232535205G>TCA351006037CHRNDc.1447G>T (p.Val483Leu)
c.*629G>T (n.*629G>T)
c.*1088G>T (n.*1088G>T)
c.1402G>T (p.Val468Leu)
c.865G>T (p.Val289Leu)
c.1144G>T (p.Val382Leu)
c.-4294966104G>T
c.-4294965825G>T
c.1066G>T (p.Val356Leu)
2g.232535206T>ACA351006038CHRNDc.1448T>A (p.Val483Glu)
c.*630T>A (n.*630T>A)
c.*1089T>A (n.*1089T>A)
c.1403T>A (p.Val468Glu)
c.866T>A (p.Val289Glu)
c.1145T>A (p.Val382Glu)
c.-4294966103T>A
c.-4294965824T>A
c.1067T>A (p.Val356Glu)
2g.232535206T>CCA351006039CHRNDc.1448T>C (p.Val483Ala)
c.*630T>C (n.*630T>C)
c.*1089T>C (n.*1089T>C)
c.1403T>C (p.Val468Ala)
c.866T>C (p.Val289Ala)
c.1145T>C (p.Val382Ala)
c.-4294966103T>C
c.-4294965824T>C
c.1067T>C (p.Val356Ala)
 gnomAD v4
2g.232535206T>GCA351006040CHRNDc.1448T>G (p.Val483Gly)
c.*630T>G (n.*630T>G)
c.*1089T>G (n.*1089T>G)
c.1403T>G (p.Val468Gly)
c.866T>G (p.Val289Gly)
c.1145T>G (p.Val382Gly)
c.-4294966103T>G
c.-4294965824T>G
c.1067T>G (p.Val356Gly)
 dbSNP
2g.232535206T=CA1335314503CHRNDc.1448T= (p.Val483=)
c.*630T= (n.*630T=)
c.*1089T= (n.*1089T=)
c.1403T= (p.Val468=)
c.866T= (p.Val289=)
c.1145T= (p.Val382=)
c.-4294966103T=
c.-4294965824T=
c.1067T= (p.Val356=)
2g.232535207G>ACA431809118CHRNDc.1449G>A (p.Val483=)
c.*631G>A (n.*631G>A)
c.*1090G>A (n.*1090G>A)
c.1404G>A (p.Val468=)
c.867G>A (p.Val289=)
c.1146G>A (p.Val382=)
c.-4294966102G>A
c.-4294965823G>A
c.1068G>A (p.Val356=)
 dbSNP gnomAD v3 gnomAD v4
2g.232535207G>CCA431809119CHRNDc.1449G>C (p.Val483=)
c.*631G>C (n.*631G>C)
c.*1090G>C (n.*1090G>C)
c.1404G>C (p.Val468=)
c.867G>C (p.Val289=)
c.1146G>C (p.Val382=)
c.-4294966102G>C
c.-4294965823G>C
c.1068G>C (p.Val356=)
2g.232535207G=CA1335314504CHRNDc.1449G= (p.Val483=)
c.*631G= (n.*631G=)
c.*1090G= (n.*1090G=)
c.1404G= (p.Val468=)
c.867G= (p.Val289=)
c.1146G= (p.Val382=)
c.-4294966102G=
c.-4294965823G=
c.1068G= (p.Val356=)
2g.232535207G>TCA431809120CHRNDc.1449G>T (p.Val483=)
c.*631G>T (n.*631G>T)
c.*1090G>T (n.*1090G>T)
c.1404G>T (p.Val468=)
c.867G>T (p.Val289=)
c.1146G>T (p.Val382=)
c.-4294966102G>T
c.-4294965823G>T
c.1068G>T (p.Val356=)
2g.232535208G>ACA351006041CHRNDc.1450G>A (p.Gly484Ser)
c.*632G>A (n.*632G>A)
c.*1091G>A (n.*1091G>A)
c.1405G>A (p.Gly469Ser)
c.868G>A (p.Gly290Ser)
c.1147G>A (p.Gly383Ser)
c.-4294966101G>A
c.-4294965822G>A
c.1069G>A (p.Gly357Ser)
 gnomAD v4
2g.232535208G>CCA351006042CHRNDc.1450G>C (p.Gly484Arg)
c.*632G>C (n.*632G>C)
c.*1091G>C (n.*1091G>C)
c.1405G>C (p.Gly469Arg)
c.868G>C (p.Gly290Arg)
c.1147G>C (p.Gly383Arg)
c.-4294966101G>C
c.-4294965822G>C
c.1069G>C (p.Gly357Arg)
2g.232535208G>TCA351006043CHRNDc.1450G>T (p.Gly484Cys)
c.*632G>T (n.*632G>T)
c.*1091G>T (n.*1091G>T)
c.1405G>T (p.Gly469Cys)
c.868G>T (p.Gly290Cys)
c.1147G>T (p.Gly383Cys)
c.-4294966101G>T
c.-4294965822G>T
c.1069G>T (p.Gly357Cys)
2g.232535209G>ACA351006046CHRNDc.1451G>A (p.Gly484Asp)
c.*633G>A (n.*633G>A)
c.*1092G>A (n.*1092G>A)
c.1406G>A (p.Gly469Asp)
c.869G>A (p.Gly290Asp)
c.1148G>A (p.Gly383Asp)
c.-4294966100G>A
c.-4294965821G>A
c.1070G>A (p.Gly357Asp)
 gnomAD v4
2g.232535209G>CCA351006045CHRNDc.1451G>C (p.Gly484Ala)
c.*633G>C (n.*633G>C)
c.*1092G>C (n.*1092G>C)
c.1406G>C (p.Gly469Ala)
c.869G>C (p.Gly290Ala)
c.1148G>C (p.Gly383Ala)
c.-4294966100G>C
c.-4294965821G>C
c.1070G>C (p.Gly357Ala)
2g.232535209G>TCA351006044CHRNDc.1451G>T (p.Gly484Val)
c.*633G>T (n.*633G>T)
c.*1092G>T (n.*1092G>T)
c.1406G>T (p.Gly469Val)
c.869G>T (p.Gly290Val)
c.1148G>T (p.Gly383Val)
c.-4294966100G>T
c.-4294965821G>T
c.1070G>T (p.Gly357Val)
2g.232535210C>ACA431809121CHRNDc.1452C>A (p.Gly484=)
c.*634C>A (n.*634C>A)
c.*1093C>A (n.*1093C>A)
c.1407C>A (p.Gly469=)
c.870C>A (p.Gly290=)
c.1149C>A (p.Gly383=)
c.-4294966099C>A
c.-4294965820C>A
c.1071C>A (p.Gly357=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535210C=CA1335314505CHRNDc.1452C= (p.Gly484=)
c.*634C= (n.*634C=)
c.*1093C= (n.*1093C=)
c.1407C= (p.Gly469=)
c.870C= (p.Gly290=)
c.1149C= (p.Gly383=)
c.-4294966099C=
c.-4294965820C=
c.1071C= (p.Gly357=)
2g.232535210C>GCA431809122CHRNDc.1452C>G (p.Gly484=)
c.*634C>G (n.*634C>G)
c.*1093C>G (n.*1093C>G)
c.1407C>G (p.Gly469=)
c.870C>G (p.Gly290=)
c.1149C>G (p.Gly383=)
c.-4294966099C>G
c.-4294965820C>G
c.1071C>G (p.Gly357=)
2g.232535210C>TCA431809123CHRNDc.1452C>T (p.Gly484=)
c.*634C>T (n.*634C>T)
c.*1093C>T (n.*1093C>T)
c.1407C>T (p.Gly469=)
c.870C>T (p.Gly290=)
c.1149C>T (p.Gly383=)
c.-4294966099C>T
c.-4294965820C>T
c.1071C>T (p.Gly357=)
 gnomAD v4
2g.232535211A>CCA351006047CHRNDc.1453A>C (p.Thr485Pro)
c.*635A>C (n.*635A>C)
c.*1094A>C (n.*1094A>C)
c.1408A>C (p.Thr470Pro)
c.871A>C (p.Thr291Pro)
c.1150A>C (p.Thr384Pro)
c.-4294966098A>C
c.-4294965819A>C
c.1072A>C (p.Thr358Pro)
2g.232535211A>GCA351006048CHRNDc.1453A>G (p.Thr485Ala)
c.*635A>G (n.*635A>G)
c.*1094A>G (n.*1094A>G)
c.1408A>G (p.Thr470Ala)
c.871A>G (p.Thr291Ala)
c.1150A>G (p.Thr384Ala)
c.-4294966098A>G
c.-4294965819A>G
c.1072A>G (p.Thr358Ala)
2g.232535211A>TCA351006049CHRNDc.1453A>T (p.Thr485Ser)
c.*635A>T (n.*635A>T)
c.*1094A>T (n.*1094A>T)
c.1408A>T (p.Thr470Ser)
c.871A>T (p.Thr291Ser)
c.1150A>T (p.Thr384Ser)
c.-4294966098A>T
c.-4294965819A>T
c.1072A>T (p.Thr358Ser)
2g.232535212C>ACA351006050CHRNDc.1454C>A (p.Thr485Lys)
c.*636C>A (n.*636C>A)
c.*1095C>A (n.*1095C>A)
c.1409C>A (p.Thr470Lys)
c.872C>A (p.Thr291Lys)
c.1151C>A (p.Thr384Lys)
c.-4294966097C>A
c.-4294965818C>A
c.1073C>A (p.Thr358Lys)
2g.232535212C=CA1335314506CHRNDc.1454C= (p.Thr485=)
c.*636C= (n.*636C=)
c.*1095C= (n.*1095C=)
c.1409C= (p.Thr470=)
c.872C= (p.Thr291=)
c.1151C= (p.Thr384=)
c.-4294966097C=
c.-4294965818C=
c.1073C= (p.Thr358=)
2g.232535212C>GCA351006051CHRNDc.1454C>G (p.Thr485Arg)
c.*636C>G (n.*636C>G)
c.*1095C>G (n.*1095C>G)
c.1409C>G (p.Thr470Arg)
c.872C>G (p.Thr291Arg)
c.1151C>G (p.Thr384Arg)
c.-4294966097C>G
c.-4294965818C>G
c.1073C>G (p.Thr358Arg)
2g.232535212C>TCA351006052CHRNDc.1454C>T (p.Thr485Ile)
c.*636C>T (n.*636C>T)
c.*1095C>T (n.*1095C>T)
c.1409C>T (p.Thr470Ile)
c.872C>T (p.Thr291Ile)
c.1151C>T (p.Thr384Ile)
c.-4294966097C>T
c.-4294965818C>T
c.1073C>T (p.Thr358Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535213A=CA1335314507CHRNDc.1455A= (p.Thr485=)
c.*637A= (n.*637A=)
c.*1096A= (n.*1096A=)
c.1410A= (p.Thr470=)
c.873A= (p.Thr291=)
c.1152A= (p.Thr384=)
c.-4294966096A=
c.-4294965817A=
c.1074A= (p.Thr358=)
2g.232535213A>CCA431809125CHRNDc.1455A>C (p.Thr485=)
c.*637A>C (n.*637A>C)
c.*1096A>C (n.*1096A>C)
c.1410A>C (p.Thr470=)
c.873A>C (p.Thr291=)
c.1152A>C (p.Thr384=)
c.-4294966096A>C
c.-4294965817A>C
c.1074A>C (p.Thr358=)
2g.232535213A>GCA2168364CHRNDc.1455A>G (p.Thr485=)
c.*637A>G (n.*637A>G)
c.*1096A>G (n.*1096A>G)
c.1410A>G (p.Thr470=)
c.873A>G (p.Thr291=)
c.1152A>G (p.Thr384=)
c.-4294966096A>G
c.-4294965817A>G
c.1074A>G (p.Thr358=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.232535213A>TCA431809127CHRNDc.1455A>T (p.Thr485=)
c.*637A>T (n.*637A>T)
c.*1096A>T (n.*1096A>T)
c.1410A>T (p.Thr470=)
c.873A>T (p.Thr291=)
c.1152A>T (p.Thr384=)
c.-4294966096A>T
c.-4294965817A>T
c.1074A>T (p.Thr358=)
2g.232535214G>ACA351006053CHRNDc.1456G>A (p.Ala486Thr)
c.*638G>A (n.*638G>A)
c.*1097G>A (n.*1097G>A)
c.1411G>A (p.Ala471Thr)
c.874G>A (p.Ala292Thr)
c.1153G>A (p.Ala385Thr)
c.-4294966095G>A
c.-4294965816G>A
c.1075G>A (p.Ala359Thr)
2g.232535214G>CCA351006054CHRNDc.1456G>C (p.Ala486Pro)
c.*638G>C (n.*638G>C)
c.*1097G>C (n.*1097G>C)
c.1411G>C (p.Ala471Pro)
c.874G>C (p.Ala292Pro)
c.1153G>C (p.Ala385Pro)
c.-4294966095G>C
c.-4294965816G>C
c.1075G>C (p.Ala359Pro)
2g.232535214G>TCA351006055CHRNDc.1456G>T (p.Ala486Ser)
c.*638G>T (n.*638G>T)
c.*1097G>T (n.*1097G>T)
c.1411G>T (p.Ala471Ser)
c.874G>T (p.Ala292Ser)
c.1153G>T (p.Ala385Ser)
c.-4294966095G>T
c.-4294965816G>T
c.1075G>T (p.Ala359Ser)
2g.232535215C>ACA351006056CHRNDc.1457C>A (p.Ala486Asp)
c.*639C>A (n.*639C>A)
c.*1098C>A (n.*1098C>A)
c.1412C>A (p.Ala471Asp)
c.875C>A (p.Ala292Asp)
c.1154C>A (p.Ala385Asp)
c.-4294966094C>A
c.-4294965815C>A
c.1076C>A (p.Ala359Asp)
2g.232535215C>GCA351006057CHRNDc.1457C>G (p.Ala486Gly)
c.*639C>G (n.*639C>G)
c.*1098C>G (n.*1098C>G)
c.1412C>G (p.Ala471Gly)
c.875C>G (p.Ala292Gly)
c.1154C>G (p.Ala385Gly)
c.-4294966094C>G
c.-4294965815C>G
c.1076C>G (p.Ala359Gly)
2g.232535215C>TCA351006058CHRNDc.1457C>T (p.Ala486Val)
c.*639C>T (n.*639C>T)
c.*1098C>T (n.*1098C>T)
c.1412C>T (p.Ala471Val)
c.875C>T (p.Ala292Val)
c.1154C>T (p.Ala385Val)
c.-4294966094C>T
c.-4294965815C>T
c.1076C>T (p.Ala359Val)
2g.232535216C>ACA431809129CHRNDc.1458C>A (p.Ala486=)
c.*640C>A (n.*640C>A)
c.*1099C>A (n.*1099C>A)
c.1413C>A (p.Ala471=)
c.876C>A (p.Ala292=)
c.1155C>A (p.Ala385=)
c.-4294966093C>A
c.-4294965814C>A
c.1077C>A (p.Ala359=)
2g.232535216C>GCA431809131CHRNDc.1458C>G (p.Ala486=)
c.*640C>G (n.*640C>G)
c.*1099C>G (n.*1099C>G)
c.1413C>G (p.Ala471=)
c.876C>G (p.Ala292=)
c.1155C>G (p.Ala385=)
c.-4294966093C>G
c.-4294965814C>G
c.1077C>G (p.Ala359=)
2g.232535216C>TCA431809130CHRNDc.1458C>T (p.Ala486=)
c.*640C>T (n.*640C>T)
c.*1099C>T (n.*1099C>T)
c.1413C>T (p.Ala471=)
c.876C>T (p.Ala292=)
c.1155C>T (p.Ala385=)
c.-4294966093C>T
c.-4294965814C>T
c.1077C>T (p.Ala359=)
2g.232535217T>ACA351006060CHRNDc.1459T>A (p.Trp487Arg)
c.*641T>A (n.*641T>A)
c.*1100T>A (n.*1100T>A)
c.1414T>A (p.Trp472Arg)
c.877T>A (p.Trp293Arg)
c.1156T>A (p.Trp386Arg)
c.-4294966092T>A
c.-4294965813T>A
c.1078T>A (p.Trp360Arg)
2g.232535217T>CCA351006061CHRNDc.1459T>C (p.Trp487Arg)
c.*641T>C (n.*641T>C)
c.*1100T>C (n.*1100T>C)
c.1414T>C (p.Trp472Arg)
c.877T>C (p.Trp293Arg)
c.1156T>C (p.Trp386Arg)
c.-4294966092T>C
c.-4294965813T>C
c.1078T>C (p.Trp360Arg)
2g.232535217T>GCA351006059CHRNDc.1459T>G (p.Trp487Gly)
c.*641T>G (n.*641T>G)
c.*1100T>G (n.*1100T>G)
c.1414T>G (p.Trp472Gly)
c.877T>G (p.Trp293Gly)
c.1156T>G (p.Trp386Gly)
c.-4294966092T>G
c.-4294965813T>G
c.1078T>G (p.Trp360Gly)
2g.232535218G>ACA351006062CHRNDc.1460G>A (p.Trp487Ter)
c.*642G>A (n.*642G>A)
c.*1101G>A (n.*1101G>A)
c.1415G>A (p.Trp472Ter)
c.878G>A (p.Trp293Ter)
c.1157G>A (p.Trp386Ter)
c.-4294966091G>A
c.-4294965812G>A
c.1079G>A (p.Trp360Ter)
2g.232535218G>CCA351006063CHRNDc.1460G>C (p.Trp487Ser)
c.*642G>C (n.*642G>C)
c.*1101G>C (n.*1101G>C)
c.1415G>C (p.Trp472Ser)
c.878G>C (p.Trp293Ser)
c.1157G>C (p.Trp386Ser)
c.-4294966091G>C
c.-4294965812G>C
c.1079G>C (p.Trp360Ser)
2g.232535218G>TCA351006064CHRNDc.1460G>T (p.Trp487Leu)
c.*642G>T (n.*642G>T)
c.*1101G>T (n.*1101G>T)
c.1415G>T (p.Trp472Leu)
c.878G>T (p.Trp293Leu)
c.1157G>T (p.Trp386Leu)
c.-4294966091G>T
c.-4294965812G>T
c.1079G>T (p.Trp360Leu)
 gnomAD v4
2g.232535219G>ACA351006065CHRNDc.1461G>A (p.Trp487Ter)
c.*643G>A (n.*643G>A)
c.*1102G>A (n.*1102G>A)
c.1416G>A (p.Trp472Ter)
c.879G>A (p.Trp293Ter)
c.1158G>A (p.Trp386Ter)
c.-4294966090G>A
c.-4294965811G>A
c.1080G>A (p.Trp360Ter)
2g.232535219G>CCA351006066CHRNDc.1461G>C (p.Trp487Cys)
c.*643G>C (n.*643G>C)
c.*1102G>C (n.*1102G>C)
c.1416G>C (p.Trp472Cys)
c.879G>C (p.Trp293Cys)
c.1158G>C (p.Trp386Cys)
c.-4294966090G>C
c.-4294965811G>C
c.1080G>C (p.Trp360Cys)
2g.232535219G>TCA351006067CHRNDc.1461G>T (p.Trp487Cys)
c.*643G>T (n.*643G>T)
c.*1102G>T (n.*1102G>T)
c.1416G>T (p.Trp472Cys)
c.879G>T (p.Trp293Cys)
c.1158G>T (p.Trp386Cys)
c.-4294966090G>T
c.-4294965811G>T
c.1080G>T (p.Trp360Cys)
 gnomAD v4
2g.232535220A=CA1335314508CHRNDc.1462A= (p.Ile488=)
c.*644A= (n.*644A=)
c.*1103A= (n.*1103A=)
c.1417A= (p.Ile473=)
c.880A= (p.Ile294=)
c.1159A= (p.Ile387=)
c.-4294966089A=
c.-4294965810A=
c.1081A= (p.Ile361=)
2g.232535220A>CCA351006068CHRNDc.1462A>C (p.Ile488Leu)
c.*644A>C (n.*644A>C)
c.*1103A>C (n.*1103A>C)
c.1417A>C (p.Ile473Leu)
c.880A>C (p.Ile294Leu)
c.1159A>C (p.Ile387Leu)
c.-4294966089A>C
c.-4294965810A>C
c.1081A>C (p.Ile361Leu)
2g.232535220A>GCA351006069CHRNDc.1462A>G (p.Ile488Val)
c.*644A>G (n.*644A>G)
c.*1103A>G (n.*1103A>G)
c.1417A>G (p.Ile473Val)
c.880A>G (p.Ile294Val)
c.1159A>G (p.Ile387Val)
c.-4294966089A>G
c.-4294965810A>G
c.1081A>G (p.Ile361Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535220A>TCA351006070CHRNDc.1462A>T (p.Ile488Phe)
c.*644A>T (n.*644A>T)
c.*1103A>T (n.*1103A>T)
c.1417A>T (p.Ile473Phe)
c.880A>T (p.Ile294Phe)
c.1159A>T (p.Ile387Phe)
c.-4294966089A>T
c.-4294965810A>T
c.1081A>T (p.Ile361Phe)
2g.232535221T>ACA351006071CHRNDc.1463T>A (p.Ile488Asn)
c.*645T>A (n.*645T>A)
c.*1104T>A (n.*1104T>A)
c.1418T>A (p.Ile473Asn)
c.881T>A (p.Ile294Asn)
c.1160T>A (p.Ile387Asn)
c.-4294966088T>A
c.-4294965809T>A
c.1082T>A (p.Ile361Asn)
2g.232535221T>CCA351006072CHRNDc.1463T>C (p.Ile488Thr)
c.*645T>C (n.*645T>C)
c.*1104T>C (n.*1104T>C)
c.1418T>C (p.Ile473Thr)
c.881T>C (p.Ile294Thr)
c.1160T>C (p.Ile387Thr)
c.-4294966088T>C
c.-4294965809T>C
c.1082T>C (p.Ile361Thr)
2g.232535221T>GCA351006073CHRNDc.1463T>G (p.Ile488Ser)
c.*645T>G (n.*645T>G)
c.*1104T>G (n.*1104T>G)
c.1418T>G (p.Ile473Ser)
c.881T>G (p.Ile294Ser)
c.1160T>G (p.Ile387Ser)
c.-4294966088T>G
c.-4294965809T>G
c.1082T>G (p.Ile361Ser)
2g.232535222C>ACA431809132CHRNDc.1464C>A (p.Ile488=)
c.*646C>A (n.*646C>A)
c.*1105C>A (n.*1105C>A)
c.1419C>A (p.Ile473=)
c.882C>A (p.Ile294=)
c.1161C>A (p.Ile387=)
c.-4294966087C>A
c.-4294965808C>A
c.1083C>A (p.Ile361=)
2g.232535222C>GCA351006074CHRNDc.1464C>G (p.Ile488Met)
c.*646C>G (n.*646C>G)
c.*1105C>G (n.*1105C>G)
c.1419C>G (p.Ile473Met)
c.882C>G (p.Ile294Met)
c.1161C>G (p.Ile387Met)
c.-4294966087C>G
c.-4294965808C>G
c.1083C>G (p.Ile361Met)
2g.232535222C>TCA431809134CHRNDc.1464C>T (p.Ile488=)
c.*646C>T (n.*646C>T)
c.*1105C>T (n.*1105C>T)
c.1419C>T (p.Ile473=)
c.882C>T (p.Ile294=)
c.1161C>T (p.Ile387=)
c.-4294966087C>T
c.-4294965808C>T
c.1083C>T (p.Ile361=)
2g.232535223T>ACA351006075CHRNDc.1465T>A (p.Phe489Ile)
c.*647T>A (n.*647T>A)
c.*1106T>A (n.*1106T>A)
c.1420T>A (p.Phe474Ile)
c.883T>A (p.Phe295Ile)
c.1162T>A (p.Phe388Ile)
c.-4294966086T>A
c.-4294965807T>A
c.1084T>A (p.Phe362Ile)
2g.232535223T>CCA351006077CHRNDc.1465T>C (p.Phe489Leu)
c.*647T>C (n.*647T>C)
c.*1106T>C (n.*1106T>C)
c.1420T>C (p.Phe474Leu)
c.883T>C (p.Phe295Leu)
c.1162T>C (p.Phe388Leu)
c.-4294966086T>C
c.-4294965807T>C
c.1084T>C (p.Phe362Leu)
2g.232535223T>GCA351006076CHRNDc.1465T>G (p.Phe489Val)
c.*647T>G (n.*647T>G)
c.*1106T>G (n.*1106T>G)
c.1420T>G (p.Phe474Val)
c.883T>G (p.Phe295Val)
c.1162T>G (p.Phe388Val)
c.-4294966086T>G
c.-4294965807T>G
c.1084T>G (p.Phe362Val)
2g.232535224T>ACA351006078CHRNDc.1466T>A (p.Phe489Tyr)
c.*648T>A (n.*648T>A)
c.*1107T>A (n.*1107T>A)
c.1421T>A (p.Phe474Tyr)
c.884T>A (p.Phe295Tyr)
c.1163T>A (p.Phe388Tyr)
c.-4294966085T>A
c.-4294965806T>A
c.1085T>A (p.Phe362Tyr)
2g.232535224T>CCA351006079CHRNDc.1466T>C (p.Phe489Ser)
c.*648T>C (n.*648T>C)
c.*1107T>C (n.*1107T>C)
c.1421T>C (p.Phe474Ser)
c.884T>C (p.Phe295Ser)
c.1163T>C (p.Phe388Ser)
c.-4294966085T>C
c.-4294965806T>C
c.1085T>C (p.Phe362Ser)
2g.232535224T>GCA351006080CHRNDc.1466T>G (p.Phe489Cys)
c.*648T>G (n.*648T>G)
c.*1107T>G (n.*1107T>G)
c.1421T>G (p.Phe474Cys)
c.884T>G (p.Phe295Cys)
c.1163T>G (p.Phe388Cys)
c.-4294966085T>G
c.-4294965806T>G
c.1085T>G (p.Phe362Cys)
2g.232535225C>ACA351006081CHRNDc.1467C>A (p.Phe489Leu)
c.*649C>A (n.*649C>A)
c.*1108C>A (n.*1108C>A)
c.1422C>A (p.Phe474Leu)
c.885C>A (p.Phe295Leu)
c.1164C>A (p.Phe388Leu)
c.-4294966084C>A
c.-4294965805C>A
c.1086C>A (p.Phe362Leu)
2g.232535225C>GCA351006082CHRNDc.1467C>G (p.Phe489Leu)
c.*649C>G (n.*649C>G)
c.*1108C>G (n.*1108C>G)
c.1422C>G (p.Phe474Leu)
c.885C>G (p.Phe295Leu)
c.1164C>G (p.Phe388Leu)
c.-4294966084C>G
c.-4294965805C>G
c.1086C>G (p.Phe362Leu)
2g.232535225C>TCA431809138CHRNDc.1467C>T (p.Phe489=)
c.*649C>T (n.*649C>T)
c.*1108C>T (n.*1108C>T)
c.1422C>T (p.Phe474=)
c.885C>T (p.Phe295=)
c.1164C>T (p.Phe388=)
c.-4294966084C>T
c.-4294965805C>T
c.1086C>T (p.Phe362=)
2g.232535226C>ACA351006083CHRNDc.1468C>A (p.Leu490Met)
c.*650C>A (n.*650C>A)
c.*1109C>A (n.*1109C>A)
c.1423C>A (p.Leu475Met)
c.886C>A (p.Leu296Met)
c.1165C>A (p.Leu389Met)
c.-4294966083C>A
c.-4294965804C>A
c.1087C>A (p.Leu363Met)
2g.232535226C=CA1335314509CHRNDc.1468C= (p.Leu490=)
c.*650C= (n.*650C=)
c.*1109C= (n.*1109C=)
c.1423C= (p.Leu475=)
c.886C= (p.Leu296=)
c.1165C= (p.Leu389=)
c.-4294966083C=
c.-4294965804C=
c.1087C= (p.Leu363=)
2g.232535226C>GCA351006084CHRNDc.1468C>G (p.Leu490Val)
c.*650C>G (n.*650C>G)
c.*1109C>G (n.*1109C>G)
c.1423C>G (p.Leu475Val)
c.886C>G (p.Leu296Val)
c.1165C>G (p.Leu389Val)
c.-4294966083C>G
c.-4294965804C>G
c.1087C>G (p.Leu363Val)
2g.232535226C>TCA431809139CHRNDc.1468C>T (p.Leu490=)
c.*650C>T (n.*650C>T)
c.*1109C>T (n.*1109C>T)
c.1423C>T (p.Leu475=)
c.886C>T (p.Leu296=)
c.1165C>T (p.Leu389=)
c.-4294966083C>T
c.-4294965804C>T
c.1087C>T (p.Leu363=)
 dbSNP
2g.232535227T>ACA351006085CHRNDc.1469T>A (p.Leu490Gln)
c.*651T>A (n.*651T>A)
c.*1110T>A (n.*1110T>A)
c.1424T>A (p.Leu475Gln)
c.887T>A (p.Leu296Gln)
c.1166T>A (p.Leu389Gln)
c.-4294966082T>A
c.-4294965803T>A
c.1088T>A (p.Leu363Gln)
2g.232535227T>CCA351006086CHRNDc.1469T>C (p.Leu490Pro)
c.*651T>C (n.*651T>C)
c.*1110T>C (n.*1110T>C)
c.1424T>C (p.Leu475Pro)
c.887T>C (p.Leu296Pro)
c.1166T>C (p.Leu389Pro)
c.-4294966082T>C
c.-4294965803T>C
c.1088T>C (p.Leu363Pro)
2g.232535227T>GCA351006087CHRNDc.1469T>G (p.Leu490Arg)
c.*651T>G (n.*651T>G)
c.*1110T>G (n.*1110T>G)
c.1424T>G (p.Leu475Arg)
c.887T>G (p.Leu296Arg)
c.1166T>G (p.Leu389Arg)
c.-4294966082T>G
c.-4294965803T>G
c.1088T>G (p.Leu363Arg)
2g.232535228G>ACA431809140CHRNDc.1470G>A (p.Leu490=)
c.*652G>A (n.*652G>A)
c.*1111G>A (n.*1111G>A)
c.1425G>A (p.Leu475=)
c.888G>A (p.Leu296=)
c.1167G>A (p.Leu389=)
c.-4294966081G>A
c.-4294965802G>A
c.1089G>A (p.Leu363=)
 gnomAD v4
2g.232535228G>CCA431809142CHRNDc.1470G>C (p.Leu490=)
c.*652G>C (n.*652G>C)
c.*1111G>C (n.*1111G>C)
c.1425G>C (p.Leu475=)
c.888G>C (p.Leu296=)
c.1167G>C (p.Leu389=)
c.-4294966081G>C
c.-4294965802G>C
c.1089G>C (p.Leu363=)
2g.232535228G>TCA431809145CHRNDc.1470G>T (p.Leu490=)
c.*652G>T (n.*652G>T)
c.*1111G>T (n.*1111G>T)
c.1425G>T (p.Leu475=)
c.888G>T (p.Leu296=)
c.1167G>T (p.Leu389=)
c.-4294966081G>T
c.-4294965802G>T
c.1089G>T (p.Leu363=)
2g.232535229C>ACA351006089CHRNDc.1471C>A (p.Gln491Lys)
c.*653C>A (n.*653C>A)
c.*1112C>A (n.*1112C>A)
c.1426C>A (p.Gln476Lys)
c.889C>A (p.Gln297Lys)
c.1168C>A (p.Gln390Lys)
c.-4294966080C>A
c.-4294965801C>A
c.1090C>A (p.Gln364Lys)
 gnomAD v4
2g.232535229C>GCA351006090CHRNDc.1471C>G (p.Gln491Glu)
c.*653C>G (n.*653C>G)
c.*1112C>G (n.*1112C>G)
c.1426C>G (p.Gln476Glu)
c.889C>G (p.Gln297Glu)
c.1168C>G (p.Gln390Glu)
c.-4294966080C>G
c.-4294965801C>G
c.1090C>G (p.Gln364Glu)
2g.232535229C>TCA351006088CHRNDc.1471C>T (p.Gln491Ter)
c.*653C>T (n.*653C>T)
c.*1112C>T (n.*1112C>T)
c.1426C>T (p.Gln476Ter)
c.889C>T (p.Gln297Ter)
c.1168C>T (p.Gln390Ter)
c.-4294966080C>T
c.-4294965801C>T
c.1090C>T (p.Gln364Ter)
2g.232535229_232535230delinsCACA1335314510CHRNDc.1471_1472delinsCA (p.Gln491=)
c.*653_*654delinsCA (n.*653_*654delinsCA)
c.*1112_*1113delinsCA (n.*1112_*1113delinsCA)
c.1426_1427delinsCA (p.Gln476=)
c.889_890delinsCA (p.Gln297=)
c.1168_1169delinsCA (p.Gln390=)
c.-4294966080_-4294966079delinsCA
c.-4294965801_-4294965800delinsCA
c.1090_1091delinsCA (p.Gln364=)
2g.232535230delCA2168365CHRNDc.1472del (p.Gln491ArgfsTer?)
c.*654del (n.*654del)
c.*1113del (n.*1113del)
c.1427del (p.Gln476ArgfsTer?)
c.890del (p.Gln297ArgfsTer?)
c.1169del (p.Gln390ArgfsTer?)
c.-4294966079del
c.-4294965800del
c.1091del (p.Gln364ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232535230A>CCA351006091CHRNDc.1472A>C (p.Gln491Pro)
c.*654A>C (n.*654A>C)
c.*1113A>C (n.*1113A>C)
c.1427A>C (p.Gln476Pro)
c.890A>C (p.Gln297Pro)
c.1169A>C (p.Gln390Pro)
c.-4294966079A>C
c.-4294965800A>C
c.1091A>C (p.Gln364Pro)
 gnomAD v4
2g.232535230A>GCA351006092CHRNDc.1472A>G (p.Gln491Arg)
c.*654A>G (n.*654A>G)
c.*1113A>G (n.*1113A>G)
c.1427A>G (p.Gln476Arg)
c.890A>G (p.Gln297Arg)
c.1169A>G (p.Gln390Arg)
c.-4294966079A>G
c.-4294965800A>G
c.1091A>G (p.Gln364Arg)
 gnomAD v4
2g.232535230A>TCA351006093CHRNDc.1472A>T (p.Gln491Leu)
c.*654A>T (n.*654A>T)
c.*1113A>T (n.*1113A>T)
c.1427A>T (p.Gln476Leu)
c.890A>T (p.Gln297Leu)
c.1169A>T (p.Gln390Leu)
c.-4294966079A>T
c.-4294965800A>T
c.1091A>T (p.Gln364Leu)
2g.232535231G>ACA431809148CHRNDc.1473G>A (p.Gln491=)
c.*655G>A (n.*655G>A)
c.*1114G>A (n.*1114G>A)
c.1428G>A (p.Gln476=)
c.891G>A (p.Gln297=)
c.1170G>A (p.Gln390=)
c.-4294966078G>A
c.-4294965799G>A
c.1092G>A (p.Gln364=)
 gnomAD v4
2g.232535231G>CCA351006094CHRNDc.1473G>C (p.Gln491His)
c.*655G>C (n.*655G>C)
c.*1114G>C (n.*1114G>C)
c.1428G>C (p.Gln476His)
c.891G>C (p.Gln297His)
c.1170G>C (p.Gln390His)
c.-4294966078G>C
c.-4294965799G>C
c.1092G>C (p.Gln364His)
2g.232535231G=CA1335314511CHRNDc.1473G= (p.Gln491=)
c.*655G= (n.*655G=)
c.*1114G= (n.*1114G=)
c.1428G= (p.Gln476=)
c.891G= (p.Gln297=)
c.1170G= (p.Gln390=)
c.-4294966078G=
c.-4294965799G=
c.1092G= (p.Gln364=)
2g.232535231G>TCA10613115CHRNDc.1473G>T (p.Gln491His)
c.*655G>T (n.*655G>T)
c.*1114G>T (n.*1114G>T)
c.1428G>T (p.Gln476His)
c.891G>T (p.Gln297His)
c.1170G>T (p.Gln390His)
c.-4294966078G>T
c.-4294965799G>T
c.1092G>T (p.Gln364His)
 ClinVar dbSNP
2g.232535232G>ACA351006095CHRNDc.1474G>A (p.Gly492Ser)
c.*656G>A (n.*656G>A)
c.*1115G>A (n.*1115G>A)
c.1429G>A (p.Gly477Ser)
c.892G>A (p.Gly298Ser)
c.1171G>A (p.Gly391Ser)
c.-4294966077G>A
c.-4294965798G>A
c.1093G>A (p.Gly365Ser)
2g.232535232G>CCA351006096CHRNDc.1474G>C (p.Gly492Arg)
c.*656G>C (n.*656G>C)
c.*1115G>C (n.*1115G>C)
c.1429G>C (p.Gly477Arg)
c.892G>C (p.Gly298Arg)
c.1171G>C (p.Gly391Arg)
c.-4294966077G>C
c.-4294965798G>C
c.1093G>C (p.Gly365Arg)
2g.232535232G>TCA351006097CHRNDc.1474G>T (p.Gly492Cys)
c.*656G>T (n.*656G>T)
c.*1115G>T (n.*1115G>T)
c.1429G>T (p.Gly477Cys)
c.892G>T (p.Gly298Cys)
c.1171G>T (p.Gly391Cys)
c.-4294966077G>T
c.-4294965798G>T
c.1093G>T (p.Gly365Cys)
2g.232535233G>ACA351006098CHRNDc.1475G>A (p.Gly492Asp)
c.*657G>A (n.*657G>A)
c.*1116G>A (n.*1116G>A)
c.1430G>A (p.Gly477Asp)
c.893G>A (p.Gly298Asp)
c.1172G>A (p.Gly391Asp)
c.-4294966076G>A
c.-4294965797G>A
c.1094G>A (p.Gly365Asp)
2g.232535233G>CCA351006099CHRNDc.1475G>C (p.Gly492Ala)
c.*657G>C (n.*657G>C)
c.*1116G>C (n.*1116G>C)
c.1430G>C (p.Gly477Ala)
c.893G>C (p.Gly298Ala)
c.1172G>C (p.Gly391Ala)
c.-4294966076G>C
c.-4294965797G>C
c.1094G>C (p.Gly365Ala)
2g.232535233G>TCA351006100CHRNDc.1475G>T (p.Gly492Val)
c.*657G>T (n.*657G>T)
c.*1116G>T (n.*1116G>T)
c.1430G>T (p.Gly477Val)
c.893G>T (p.Gly298Val)
c.1172G>T (p.Gly391Val)
c.-4294966076G>T
c.-4294965797G>T
c.1094G>T (p.Gly365Val)
2g.232535234C>ACA431809151CHRNDc.1476C>A (p.Gly492=)
c.*658C>A (n.*658C>A)
c.*1117C>A (n.*1117C>A)
c.1431C>A (p.Gly477=)
c.894C>A (p.Gly298=)
c.1173C>A (p.Gly391=)
c.-4294966075C>A
c.-4294965796C>A
c.1095C>A (p.Gly365=)
2g.232535234C=CA1335314512CHRNDc.1476C= (p.Gly492=)
c.*658C= (n.*658C=)
c.*1117C= (n.*1117C=)
c.1431C= (p.Gly477=)
c.894C= (p.Gly298=)
c.1173C= (p.Gly391=)
c.-4294966075C=
c.-4294965796C=
c.1095C= (p.Gly365=)
2g.232535234C>GCA431809152CHRNDc.1476C>G (p.Gly492=)
c.*658C>G (n.*658C>G)
c.*1117C>G (n.*1117C>G)
c.1431C>G (p.Gly477=)
c.894C>G (p.Gly298=)
c.1173C>G (p.Gly391=)
c.-4294966075C>G
c.-4294965796C>G
c.1095C>G (p.Gly365=)
2g.232535234C>TCA2168366CHRNDc.1476C>T (p.Gly492=)
c.*658C>T (n.*658C>T)
c.*1117C>T (n.*1117C>T)
c.1431C>T (p.Gly477=)
c.894C>T (p.Gly298=)
c.1173C>T (p.Gly391=)
c.-4294966075C>T
c.-4294965796C>T
c.1095C>T (p.Gly365=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535235G>ACA2168367CHRNDc.1477G>A (p.Val493Ile)
c.*659G>A (n.*659G>A)
c.*1118G>A (n.*1118G>A)
c.1432G>A (p.Val478Ile)
c.895G>A (p.Val299Ile)
c.1174G>A (p.Val392Ile)
c.-4294966074G>A
c.-4294965795G>A
c.1096G>A (p.Val366Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.232535235G>CCA2168368CHRNDc.1477G>C (p.Val493Leu)
c.*659G>C (n.*659G>C)
c.*1118G>C (n.*1118G>C)
c.1432G>C (p.Val478Leu)
c.895G>C (p.Val299Leu)
c.1174G>C (p.Val392Leu)
c.-4294966074G>C
c.-4294965795G>C
c.1096G>C (p.Val366Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232535235G=CA1335314513CHRNDc.1477G= (p.Val493=)
c.*659G= (n.*659G=)
c.*1118G= (n.*1118G=)
c.1432G= (p.Val478=)
c.895G= (p.Val299=)
c.1174G= (p.Val392=)
c.-4294966074G=
c.-4294965795G=
c.1096G= (p.Val366=)
2g.232535235G>TCA351006101CHRNDc.1477G>T (p.Val493Phe)
c.*659G>T (n.*659G>T)
c.*1118G>T (n.*1118G>T)
c.1432G>T (p.Val478Phe)
c.895G>T (p.Val299Phe)
c.1174G>T (p.Val392Phe)
c.-4294966074G>T
c.-4294965795G>T
c.1096G>T (p.Val366Phe)
2g.232535236T>ACA351006102CHRNDc.1478T>A (p.Val493Asp)
c.*660T>A (n.*660T>A)
c.*1119T>A (n.*1119T>A)
c.1433T>A (p.Val478Asp)
c.896T>A (p.Val299Asp)
c.1175T>A (p.Val392Asp)
c.-4294966073T>A
c.-4294965794T>A
c.1097T>A (p.Val366Asp)
2g.232535236T>CCA351006103CHRNDc.1478T>C (p.Val493Ala)
c.*660T>C (n.*660T>C)
c.*1119T>C (n.*1119T>C)
c.1433T>C (p.Val478Ala)
c.896T>C (p.Val299Ala)
c.1175T>C (p.Val392Ala)
c.-4294966073T>C
c.-4294965794T>C
c.1097T>C (p.Val366Ala)
2g.232535236T>GCA351006104CHRNDc.1478T>G (p.Val493Gly)
c.*660T>G (n.*660T>G)
c.*1119T>G (n.*1119T>G)
c.1433T>G (p.Val478Gly)
c.896T>G (p.Val299Gly)
c.1175T>G (p.Val392Gly)
c.-4294966073T>G
c.-4294965794T>G
c.1097T>G (p.Val366Gly)
2g.232535237T>ACA431809154CHRNDc.1479T>A (p.Val493=)
c.*661T>A (n.*661T>A)
c.*1120T>A (n.*1120T>A)
c.1434T>A (p.Val478=)
c.897T>A (p.Val299=)
c.1176T>A (p.Val392=)
c.-4294966072T>A
c.-4294965793T>A
c.1098T>A (p.Val366=)
2g.232535237T>CCA431809156CHRNDc.1479T>C (p.Val493=)
c.*661T>C (n.*661T>C)
c.*1120T>C (n.*1120T>C)
c.1434T>C (p.Val478=)
c.897T>C (p.Val299=)
c.1176T>C (p.Val392=)
c.-4294966072T>C
c.-4294965793T>C
c.1098T>C (p.Val366=)
2g.232535237T>GCA431809155CHRNDc.1479T>G (p.Val493=)
c.*661T>G (n.*661T>G)
c.*1120T>G (n.*1120T>G)
c.1434T>G (p.Val478=)
c.897T>G (p.Val299=)
c.1176T>G (p.Val392=)
c.-4294966072T>G
c.-4294965793T>G
c.1098T>G (p.Val366=)
2g.232535238T>ACA351006105CHRNDc.1480T>A (p.Tyr494Asn)
c.*662T>A (n.*662T>A)
c.*1121T>A (n.*1121T>A)
c.1435T>A (p.Tyr479Asn)
c.898T>A (p.Tyr300Asn)
c.1177T>A (p.Tyr393Asn)
c.-4294966071T>A
c.-4294965792T>A
c.1099T>A (p.Tyr367Asn)
 ClinVar dbSNP gnomAD v4
2g.232535238T>CCA2168369CHRNDc.1480T>C (p.Tyr494His)
c.*662T>C (n.*662T>C)
c.*1121T>C (n.*1121T>C)
c.1435T>C (p.Tyr479His)
c.898T>C (p.Tyr300His)
c.1177T>C (p.Tyr393His)
c.-4294966071T>C
c.-4294965792T>C
c.1099T>C (p.Tyr367His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232535238T>GCA351006106CHRNDc.1480T>G (p.Tyr494Asp)
c.*662T>G (n.*662T>G)
c.*1121T>G (n.*1121T>G)
c.1435T>G (p.Tyr479Asp)
c.898T>G (p.Tyr300Asp)
c.1177T>G (p.Tyr393Asp)
c.-4294966071T>G
c.-4294965792T>G
c.1099T>G (p.Tyr367Asp)
2g.232535238T=CA1335314514CHRNDc.1480T= (p.Tyr494=)
c.*662T= (n.*662T=)
c.*1121T= (n.*1121T=)
c.1435T= (p.Tyr479=)
c.898T= (p.Tyr300=)
c.1177T= (p.Tyr393=)
c.-4294966071T=
c.-4294965792T=
c.1099T= (p.Tyr367=)
2g.232535239A=CA1335314515CHRNDc.1481A= (p.Tyr494=)
c.*663A= (n.*663A=)
c.*1122A= (n.*1122A=)
c.1436A= (p.Tyr479=)
c.899A= (p.Tyr300=)
c.1178A= (p.Tyr393=)
c.-4294966070A=
c.-4294965791A=
c.1100A= (p.Tyr367=)
2g.232535239A>CCA351006107CHRNDc.1481A>C (p.Tyr494Ser)
c.*663A>C (n.*663A>C)
c.*1122A>C (n.*1122A>C)
c.1436A>C (p.Tyr479Ser)
c.899A>C (p.Tyr300Ser)
c.1178A>C (p.Tyr393Ser)
c.-4294966070A>C
c.-4294965791A>C
c.1100A>C (p.Tyr367Ser)
2g.232535239A>GCA351006108CHRNDc.1481A>G (p.Tyr494Cys)
c.*663A>G (n.*663A>G)
c.*1122A>G (n.*1122A>G)
c.1436A>G (p.Tyr479Cys)
c.899A>G (p.Tyr300Cys)
c.1178A>G (p.Tyr393Cys)
c.-4294966070A>G
c.-4294965791A>G
c.1100A>G (p.Tyr367Cys)
 dbSNP gnomAD v4
2g.232535239A>TCA351006109CHRNDc.1481A>T (p.Tyr494Phe)
c.*663A>T (n.*663A>T)
c.*1122A>T (n.*1122A>T)
c.1436A>T (p.Tyr479Phe)
c.899A>T (p.Tyr300Phe)
c.1178A>T (p.Tyr393Phe)
c.-4294966070A>T
c.-4294965791A>T
c.1100A>T (p.Tyr367Phe)
2g.232535240C>ACA351006110CHRNDc.1482C>A (p.Tyr494Ter)
c.*664C>A (n.*664C>A)
c.*1123C>A (n.*1123C>A)
c.1437C>A (p.Tyr479Ter)
c.900C>A (p.Tyr300Ter)
c.1179C>A (p.Tyr393Ter)
c.-4294966069C>A
c.-4294965790C>A
c.1101C>A (p.Tyr367Ter)
 gnomAD v4
2g.232535240C>GCA351006111CHRNDc.1482C>G (p.Tyr494Ter)
c.*664C>G (n.*664C>G)
c.*1123C>G (n.*1123C>G)
c.1437C>G (p.Tyr479Ter)
c.900C>G (p.Tyr300Ter)
c.1179C>G (p.Tyr393Ter)
c.-4294966069C>G
c.-4294965790C>G
c.1101C>G (p.Tyr367Ter)
2g.232535240C>TCA431809157CHRNDc.1482C>T (p.Tyr494=)
c.*664C>T (n.*664C>T)
c.*1123C>T (n.*1123C>T)
c.1437C>T (p.Tyr479=)
c.900C>T (p.Tyr300=)
c.1179C>T (p.Tyr393=)
c.-4294966069C>T
c.-4294965790C>T
c.1101C>T (p.Tyr367=)
 ClinVar
2g.232535241A>CCA351006112CHRNDc.1483A>C (p.Asn495His)
c.*665A>C (n.*665A>C)
c.*1124A>C (n.*1124A>C)
c.1438A>C (p.Asn480His)
c.901A>C (p.Asn301His)
c.1180A>C (p.Asn394His)
c.-4294966068A>C
c.-4294965789A>C
c.1102A>C (p.Asn368His)
2g.232535241A>GCA351006113CHRNDc.1483A>G (p.Asn495Asp)
c.*665A>G (n.*665A>G)
c.*1124A>G (n.*1124A>G)
c.1438A>G (p.Asn480Asp)
c.901A>G (p.Asn301Asp)
c.1180A>G (p.Asn394Asp)
c.-4294966068A>G
c.-4294965789A>G
c.1102A>G (p.Asn368Asp)
2g.232535241A>TCA351006114CHRNDc.1483A>T (p.Asn495Tyr)
c.*665A>T (n.*665A>T)
c.*1124A>T (n.*1124A>T)
c.1438A>T (p.Asn480Tyr)
c.901A>T (p.Asn301Tyr)
c.1180A>T (p.Asn394Tyr)
c.-4294966068A>T
c.-4294965789A>T
c.1102A>T (p.Asn368Tyr)
2g.232535242A=CA1335314516CHRNDc.1484A= (p.Asn495=)
c.*666A= (n.*666A=)
c.*1125A= (n.*1125A=)
c.1439A= (p.Asn480=)
c.902A= (p.Asn301=)
c.1181A= (p.Asn394=)
c.-4294966067A=
c.-4294965788A=
c.1103A= (p.Asn368=)
2g.232535242A>CCA351006116CHRNDc.1484A>C (p.Asn495Thr)
c.*666A>C (n.*666A>C)
c.*1125A>C (n.*1125A>C)
c.1439A>C (p.Asn480Thr)
c.902A>C (p.Asn301Thr)
c.1181A>C (p.Asn394Thr)
c.-4294966067A>C
c.-4294965788A>C
c.1103A>C (p.Asn368Thr)
2g.232535242A>GCA351006117CHRNDc.1484A>G (p.Asn495Ser)
c.*666A>G (n.*666A>G)
c.*1125A>G (n.*1125A>G)
c.1439A>G (p.Asn480Ser)
c.902A>G (p.Asn301Ser)
c.1181A>G (p.Asn394Ser)
c.-4294966067A>G
c.-4294965788A>G
c.1103A>G (p.Asn368Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232535242A>TCA351006115CHRNDc.1484A>T (p.Asn495Ile)
c.*666A>T (n.*666A>T)
c.*1125A>T (n.*1125A>T)
c.1439A>T (p.Asn480Ile)
c.902A>T (p.Asn301Ile)
c.1181A>T (p.Asn394Ile)
c.-4294966067A>T
c.-4294965788A>T
c.1103A>T (p.Asn368Ile)
2g.232535243C>ACA351006118CHRNDc.1485C>A (p.Asn495Lys)
c.*667C>A (n.*667C>A)
c.*1126C>A (n.*1126C>A)
c.1440C>A (p.Asn480Lys)
c.903C>A (p.Asn301Lys)
c.1182C>A (p.Asn394Lys)
c.-4294966066C>A
c.-4294965787C>A
c.1104C>A (p.Asn368Lys)
2g.232535243C>GCA351006119CHRNDc.1485C>G (p.Asn495Lys)
c.*667C>G (n.*667C>G)
c.*1126C>G (n.*1126C>G)
c.1440C>G (p.Asn480Lys)
c.903C>G (p.Asn301Lys)
c.1182C>G (p.Asn394Lys)
c.-4294966066C>G
c.-4294965787C>G
c.1104C>G (p.Asn368Lys)
2g.232535243C>TCA431809159CHRNDc.1485C>T (p.Asn495=)
c.*667C>T (n.*667C>T)
c.*1126C>T (n.*1126C>T)
c.1440C>T (p.Asn480=)
c.903C>T (p.Asn301=)
c.1182C>T (p.Asn394=)
c.-4294966066C>T
c.-4294965787C>T
c.1104C>T (p.Asn368=)
 gnomAD v4
2g.232535244C>ACA351006120CHRNDc.1486C>A (p.Gln496Lys)
c.*668C>A (n.*668C>A)
c.*1127C>A (n.*1127C>A)
c.1441C>A (p.Gln481Lys)
c.904C>A (p.Gln302Lys)
c.1183C>A (p.Gln395Lys)
c.-4294966065C>A
c.-4294965786C>A
c.1105C>A (p.Gln369Lys)
2g.232535244C>GCA351006121CHRNDc.1486C>G (p.Gln496Glu)
c.*668C>G (n.*668C>G)
c.*1127C>G (n.*1127C>G)
c.1441C>G (p.Gln481Glu)
c.904C>G (p.Gln302Glu)
c.1183C>G (p.Gln395Glu)
c.-4294966065C>G
c.-4294965786C>G
c.1105C>G (p.Gln369Glu)
2g.232535244C>TCA351006122CHRNDc.1486C>T (p.Gln496Ter)
c.*668C>T (n.*668C>T)
c.*1127C>T (n.*1127C>T)
c.1441C>T (p.Gln481Ter)
c.904C>T (p.Gln302Ter)
c.1183C>T (p.Gln395Ter)
c.-4294966065C>T
c.-4294965786C>T
c.1105C>T (p.Gln369Ter)
2g.232535245A>CCA351006123CHRNDc.1487A>C (p.Gln496Pro)
c.*669A>C (n.*669A>C)
c.*1128A>C (n.*1128A>C)
c.1442A>C (p.Gln481Pro)
c.905A>C (p.Gln302Pro)
c.1184A>C (p.Gln395Pro)
c.-4294966064A>C
c.-4294965785A>C
c.1106A>C (p.Gln369Pro)
2g.232535245A>GCA351006124CHRNDc.1487A>G (p.Gln496Arg)
c.*669A>G (n.*669A>G)
c.*1128A>G (n.*1128A>G)
c.1442A>G (p.Gln481Arg)
c.905A>G (p.Gln302Arg)
c.1184A>G (p.Gln395Arg)
c.-4294966064A>G
c.-4294965785A>G
c.1106A>G (p.Gln369Arg)
2g.232535245A>TCA351006125CHRNDc.1487A>T (p.Gln496Leu)
c.*669A>T (n.*669A>T)
c.*1128A>T (n.*1128A>T)
c.1442A>T (p.Gln481Leu)
c.905A>T (p.Gln302Leu)
c.1184A>T (p.Gln395Leu)
c.-4294966064A>T
c.-4294965785A>T
c.1106A>T (p.Gln369Leu)

Number of alleles fetched