Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232534214_232534232delCA2663623555CHRNDc.1253-10_1261del
c.*435-10_*443del
c.*894-10_*902del
c.1208-10_1216del
c.671-10_679del
c.950-10_958del
c.-4294966298-10_-4294966290del
c.-4294966019-10_-4294966011del
c.872-10_880del
gnomAD v4
2g.232534222_232534233delinsAGGCCGGCCCCCCA1335314070CHRNDc.1253-2_1262delinsAGGCCGGCCCCC
c.*435-2_*444delinsAGGCCGGCCCCC
c.*894-2_*903delinsAGGCCGGCCCCC
c.1208-2_1217delinsAGGCCGGCCCCC
c.671-2_680delinsAGGCCGGCCCCC
c.950-2_959delinsAGGCCGGCCCCC
c.-4294966298-2_-4294966289delinsAGGCCGGCCCCC
c.-4294966019-2_-4294966010delinsAGGCCGGCCCCC
c.872-2_881delinsAGGCCGGCCCCC
2g.232534223_232534233delCA2168315CHRNDc.1253-1_1262del
c.*435-1_*444del
c.*894-1_*903del
c.1208-1_1217del
c.671-1_680del
c.950-1_959del
c.-4294966298-1_-4294966289del
c.-4294966019-1_-4294966010del
c.872-1_881del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534232C>ACA66957675CHRNDc.1261C>A (p.Pro421Thr)
c.*443C>A (n.*443C>A)
c.*902C>A (n.*902C>A)
c.1216C>A (p.Pro406Thr)
c.679C>A (p.Pro227Thr)
c.958C>A (p.Pro320Thr)
c.-4294966290C>A
c.-4294966011C>A
c.880C>A (p.Pro294Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232534232C=CA1335314075CHRNDc.1261C= (p.Pro421=)
c.*443C= (n.*443C=)
c.*902C= (n.*902C=)
c.1216C= (p.Pro406=)
c.679C= (p.Pro227=)
c.958C= (p.Pro320=)
c.-4294966290C=
c.-4294966011C=
c.880C= (p.Pro294=)
2g.232534232C>GCA351005438CHRNDc.1261C>G (p.Pro421Ala)
c.*443C>G (n.*443C>G)
c.*902C>G (n.*902C>G)
c.1216C>G (p.Pro406Ala)
c.679C>G (p.Pro227Ala)
c.958C>G (p.Pro320Ala)
c.-4294966290C>G
c.-4294966011C>G
c.880C>G (p.Pro294Ala)
gnomAD v4
2g.232534232C>TCA351005436CHRNDc.1261C>T (p.Pro421Ser)
c.*443C>T (n.*443C>T)
c.*902C>T (n.*902C>T)
c.1216C>T (p.Pro406Ser)
c.679C>T (p.Pro227Ser)
c.958C>T (p.Pro320Ser)
c.-4294966290C>T
c.-4294966011C>T
c.880C>T (p.Pro294Ser)
gnomAD v4 COSMIC
2g.232534233C>ACA351005440CHRNDc.1262C>A (p.Pro421Gln)
c.*444C>A (n.*444C>A)
c.*903C>A (n.*903C>A)
c.1217C>A (p.Pro406Gln)
c.680C>A (p.Pro227Gln)
c.959C>A (p.Pro320Gln)
c.-4294966289C>A
c.-4294966010C>A
c.881C>A (p.Pro294Gln)
COSMIC
2g.232534233C>GCA351005442CHRNDc.1262C>G (p.Pro421Arg)
c.*444C>G (n.*444C>G)
c.*903C>G (n.*903C>G)
c.1217C>G (p.Pro406Arg)
c.680C>G (p.Pro227Arg)
c.959C>G (p.Pro320Arg)
c.-4294966289C>G
c.-4294966010C>G
c.881C>G (p.Pro294Arg)
2g.232534233C>TCA351005441CHRNDc.1262C>T (p.Pro421Leu)
c.*444C>T (n.*444C>T)
c.*903C>T (n.*903C>T)
c.1217C>T (p.Pro406Leu)
c.680C>T (p.Pro227Leu)
c.959C>T (p.Pro320Leu)
c.-4294966289C>T
c.-4294966010C>T
c.881C>T (p.Pro294Leu)
2g.232534234A=CA1335314076CHRNDc.1263A= (p.Pro421=)
c.*445A= (n.*445A=)
c.*904A= (n.*904A=)
c.1218A= (p.Pro406=)
c.681A= (p.Pro227=)
c.960A= (p.Pro320=)
c.-4294966288A=
c.-4294966009A=
c.882A= (p.Pro294=)
2g.232534234A>CCA431952396CHRNDc.1263A>C (p.Pro421=)
c.*445A>C (n.*445A>C)
c.*904A>C (n.*904A>C)
c.1218A>C (p.Pro406=)
c.681A>C (p.Pro227=)
c.960A>C (p.Pro320=)
c.-4294966288A>C
c.-4294966009A>C
c.882A>C (p.Pro294=)
dbSNP
2g.232534234A>GCA431952397CHRNDc.1263A>G (p.Pro421=)
c.*445A>G (n.*445A>G)
c.*904A>G (n.*904A>G)
c.1218A>G (p.Pro406=)
c.681A>G (p.Pro227=)
c.960A>G (p.Pro320=)
c.-4294966288A>G
c.-4294966009A>G
c.882A>G (p.Pro294=)
2g.232534234A>TCA431952398CHRNDc.1263A>T (p.Pro421=)
c.*445A>T (n.*445A>T)
c.*904A>T (n.*904A>T)
c.1218A>T (p.Pro406=)
c.681A>T (p.Pro227=)
c.960A>T (p.Pro320=)
c.-4294966288A>T
c.-4294966009A>T
c.882A>T (p.Pro294=)
2g.232534235G>ACA351005444CHRNDc.1264G>A (p.Ala422Thr)
c.*446G>A (n.*446G>A)
c.*905G>A (n.*905G>A)
c.1219G>A (p.Ala407Thr)
c.682G>A (p.Ala228Thr)
c.961G>A (p.Ala321Thr)
c.-4294966287G>A
c.-4294966008G>A
c.883G>A (p.Ala295Thr)
COSMIC
2g.232534235G>CCA351005445CHRNDc.1264G>C (p.Ala422Pro)
c.*446G>C (n.*446G>C)
c.*905G>C (n.*905G>C)
c.1219G>C (p.Ala407Pro)
c.682G>C (p.Ala228Pro)
c.961G>C (p.Ala321Pro)
c.-4294966287G>C
c.-4294966008G>C
c.883G>C (p.Ala295Pro)
2g.232534235G>TCA351005447CHRNDc.1264G>T (p.Ala422Ser)
c.*446G>T (n.*446G>T)
c.*905G>T (n.*905G>T)
c.1219G>T (p.Ala407Ser)
c.682G>T (p.Ala228Ser)
c.961G>T (p.Ala321Ser)
c.-4294966287G>T
c.-4294966008G>T
c.883G>T (p.Ala295Ser)
2g.232534236C>ACA351005449CHRNDc.1265C>A (p.Ala422Glu)
c.*447C>A (n.*447C>A)
c.*906C>A (n.*906C>A)
c.1220C>A (p.Ala407Glu)
c.683C>A (p.Ala228Glu)
c.962C>A (p.Ala321Glu)
c.-4294966286C>A
c.-4294966007C>A
c.884C>A (p.Ala295Glu)
2g.232534236C>GCA351005450CHRNDc.1265C>G (p.Ala422Gly)
c.*447C>G (n.*447C>G)
c.*906C>G (n.*906C>G)
c.1220C>G (p.Ala407Gly)
c.683C>G (p.Ala228Gly)
c.962C>G (p.Ala321Gly)
c.-4294966286C>G
c.-4294966007C>G
c.884C>G (p.Ala295Gly)
COSMIC
2g.232534236C>TCA351005452CHRNDc.1265C>T (p.Ala422Val)
c.*447C>T (n.*447C>T)
c.*906C>T (n.*906C>T)
c.1220C>T (p.Ala407Val)
c.683C>T (p.Ala228Val)
c.962C>T (p.Ala321Val)
c.-4294966286C>T
c.-4294966007C>T
c.884C>T (p.Ala295Val)
2g.232534237A>CCA431952399CHRNDc.1266A>C (p.Ala422=)
c.*448A>C (n.*448A>C)
c.*907A>C (n.*907A>C)
c.1221A>C (p.Ala407=)
c.684A>C (p.Ala228=)
c.963A>C (p.Ala321=)
c.-4294966285A>C
c.-4294966006A>C
c.885A>C (p.Ala295=)
2g.232534237A>GCA431952400CHRNDc.1266A>G (p.Ala422=)
c.*448A>G (n.*448A>G)
c.*907A>G (n.*907A>G)
c.1221A>G (p.Ala407=)
c.684A>G (p.Ala228=)
c.963A>G (p.Ala321=)
c.-4294966285A>G
c.-4294966006A>G
c.885A>G (p.Ala295=)
2g.232534237A>TCA431952401CHRNDc.1266A>T (p.Ala422=)
c.*448A>T (n.*448A>T)
c.*907A>T (n.*907A>T)
c.1221A>T (p.Ala407=)
c.684A>T (p.Ala228=)
c.963A>T (p.Ala321=)
c.-4294966285A>T
c.-4294966006A>T
c.885A>T (p.Ala295=)
2g.232534238A>CCA351005459CHRNDc.1267A>C (p.Ser423Arg)
c.*449A>C (n.*449A>C)
c.*908A>C (n.*908A>C)
c.1222A>C (p.Ser408Arg)
c.685A>C (p.Ser229Arg)
c.964A>C (p.Ser322Arg)
c.-4294966284A>C
c.-4294966005A>C
c.886A>C (p.Ser296Arg)
2g.232534238A>GCA351005455CHRNDc.1267A>G (p.Ser423Gly)
c.*449A>G (n.*449A>G)
c.*908A>G (n.*908A>G)
c.1222A>G (p.Ser408Gly)
c.685A>G (p.Ser229Gly)
c.964A>G (p.Ser322Gly)
c.-4294966284A>G
c.-4294966005A>G
c.886A>G (p.Ser296Gly)
2g.232534238A>TCA351005457CHRNDc.1267A>T (p.Ser423Cys)
c.*449A>T (n.*449A>T)
c.*908A>T (n.*908A>T)
c.1222A>T (p.Ser408Cys)
c.685A>T (p.Ser229Cys)
c.964A>T (p.Ser322Cys)
c.-4294966284A>T
c.-4294966005A>T
c.886A>T (p.Ser296Cys)
2g.232534239G>ACA351005461CHRNDc.1268G>A (p.Ser423Asn)
c.*450G>A (n.*450G>A)
c.*909G>A (n.*909G>A)
c.1223G>A (p.Ser408Asn)
c.686G>A (p.Ser229Asn)
c.965G>A (p.Ser322Asn)
c.-4294966283G>A
c.-4294966004G>A
c.887G>A (p.Ser296Asn)
2g.232534239G>CCA351005462CHRNDc.1268G>C (p.Ser423Thr)
c.*450G>C (n.*450G>C)
c.*909G>C (n.*909G>C)
c.1223G>C (p.Ser408Thr)
c.686G>C (p.Ser229Thr)
c.965G>C (p.Ser322Thr)
c.-4294966283G>C
c.-4294966004G>C
c.887G>C (p.Ser296Thr)
2g.232534239G>TCA351005463CHRNDc.1268G>T (p.Ser423Ile)
c.*450G>T (n.*450G>T)
c.*909G>T (n.*909G>T)
c.1223G>T (p.Ser408Ile)
c.686G>T (p.Ser229Ile)
c.965G>T (p.Ser322Ile)
c.-4294966283G>T
c.-4294966004G>T
c.887G>T (p.Ser296Ile)
COSMIC
2g.232534240C>ACA351005464CHRNDc.1269C>A (p.Ser423Arg)
c.*451C>A (n.*451C>A)
c.*910C>A (n.*910C>A)
c.1224C>A (p.Ser408Arg)
c.687C>A (p.Ser229Arg)
c.966C>A (p.Ser322Arg)
c.-4294966282C>A
c.-4294966003C>A
c.888C>A (p.Ser296Arg)
2g.232534240C>GCA351005466CHRNDc.1269C>G (p.Ser423Arg)
c.*451C>G (n.*451C>G)
c.*910C>G (n.*910C>G)
c.1224C>G (p.Ser408Arg)
c.687C>G (p.Ser229Arg)
c.966C>G (p.Ser322Arg)
c.-4294966282C>G
c.-4294966003C>G
c.888C>G (p.Ser296Arg)
2g.232534240C>TCA431952402CHRNDc.1269C>T (p.Ser423=)
c.*451C>T (n.*451C>T)
c.*910C>T (n.*910C>T)
c.1224C>T (p.Ser408=)
c.687C>T (p.Ser229=)
c.966C>T (p.Ser322=)
c.-4294966282C>T
c.-4294966003C>T
c.888C>T (p.Ser296=)
2g.232534241T>ACA351005468CHRNDc.1270T>A (p.Ser424Thr)
c.*452T>A (n.*452T>A)
c.*911T>A (n.*911T>A)
c.1225T>A (p.Ser409Thr)
c.688T>A (p.Ser230Thr)
c.967T>A (p.Ser323Thr)
c.-4294966281T>A
c.-4294966002T>A
c.889T>A (p.Ser297Thr)
2g.232534241T>CCA351005471CHRNDc.1270T>C (p.Ser424Pro)
c.*452T>C (n.*452T>C)
c.*911T>C (n.*911T>C)
c.1225T>C (p.Ser409Pro)
c.688T>C (p.Ser230Pro)
c.967T>C (p.Ser323Pro)
c.-4294966281T>C
c.-4294966002T>C
c.889T>C (p.Ser297Pro)
2g.232534241T>GCA351005469CHRNDc.1270T>G (p.Ser424Ala)
c.*452T>G (n.*452T>G)
c.*911T>G (n.*911T>G)
c.1225T>G (p.Ser409Ala)
c.688T>G (p.Ser230Ala)
c.967T>G (p.Ser323Ala)
c.-4294966281T>G
c.-4294966002T>G
c.889T>G (p.Ser297Ala)
2g.232534242C>ACA351005474CHRNDc.1271C>A (p.Ser424Tyr)
c.*453C>A (n.*453C>A)
c.*912C>A (n.*912C>A)
c.1226C>A (p.Ser409Tyr)
c.689C>A (p.Ser230Tyr)
c.968C>A (p.Ser323Tyr)
c.-4294966280C>A
c.-4294966001C>A
c.890C>A (p.Ser297Tyr)
2g.232534242C>GCA351005475CHRNDc.1271C>G (p.Ser424Cys)
c.*453C>G (n.*453C>G)
c.*912C>G (n.*912C>G)
c.1226C>G (p.Ser409Cys)
c.689C>G (p.Ser230Cys)
c.968C>G (p.Ser323Cys)
c.-4294966280C>G
c.-4294966001C>G
c.890C>G (p.Ser297Cys)
2g.232534242C>TCA351005477CHRNDc.1271C>T (p.Ser424Phe)
c.*453C>T (n.*453C>T)
c.*912C>T (n.*912C>T)
c.1226C>T (p.Ser409Phe)
c.689C>T (p.Ser230Phe)
c.968C>T (p.Ser323Phe)
c.-4294966280C>T
c.-4294966001C>T
c.890C>T (p.Ser297Phe)
2g.232534243T>ACA431952403CHRNDc.1272T>A (p.Ser424=)
c.*454T>A (n.*454T>A)
c.*913T>A (n.*913T>A)
c.1227T>A (p.Ser409=)
c.690T>A (p.Ser230=)
c.969T>A (p.Ser323=)
c.-4294966279T>A
c.-4294966000T>A
c.891T>A (p.Ser297=)
2g.232534243T>CCA431952404CHRNDc.1272T>C (p.Ser424=)
c.*454T>C (n.*454T>C)
c.*913T>C (n.*913T>C)
c.1227T>C (p.Ser409=)
c.690T>C (p.Ser230=)
c.969T>C (p.Ser323=)
c.-4294966279T>C
c.-4294966000T>C
c.891T>C (p.Ser297=)
2g.232534243T>GCA431952405CHRNDc.1272T>G (p.Ser424=)
c.*454T>G (n.*454T>G)
c.*913T>G (n.*913T>G)
c.1227T>G (p.Ser409=)
c.690T>G (p.Ser230=)
c.969T>G (p.Ser323=)
c.-4294966279T>G
c.-4294966000T>G
c.891T>G (p.Ser297=)
gnomAD v4
2g.232534244G>ACA2168318CHRNDc.1273G>A (p.Glu425Lys)
c.*455G>A (n.*455G>A)
c.*914G>A (n.*914G>A)
c.1228G>A (p.Glu410Lys)
c.691G>A (p.Glu231Lys)
c.970G>A (p.Glu324Lys)
c.-4294966278G>A
c.-4294965999G>A
c.892G>A (p.Glu298Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.232534244G>CCA351005480CHRNDc.1273G>C (p.Glu425Gln)
c.*455G>C (n.*455G>C)
c.*914G>C (n.*914G>C)
c.1228G>C (p.Glu410Gln)
c.691G>C (p.Glu231Gln)
c.970G>C (p.Glu324Gln)
c.-4294966278G>C
c.-4294965999G>C
c.892G>C (p.Glu298Gln)
gnomAD v4
2g.232534244G=CA1335314077CHRNDc.1273G= (p.Glu425=)
c.*455G= (n.*455G=)
c.*914G= (n.*914G=)
c.1228G= (p.Glu410=)
c.691G= (p.Glu231=)
c.970G= (p.Glu324=)
c.-4294966278G=
c.-4294965999G=
c.892G= (p.Glu298=)
2g.232534244G>TCA351005481CHRNDc.1273G>T (p.Glu425Ter)
c.*455G>T (n.*455G>T)
c.*914G>T (n.*914G>T)
c.1228G>T (p.Glu410Ter)
c.691G>T (p.Glu231Ter)
c.970G>T (p.Glu324Ter)
c.-4294966278G>T
c.-4294965999G>T
c.892G>T (p.Glu298Ter)
2g.232534245A>CCA351005484CHRNDc.1274A>C (p.Glu425Ala)
c.*456A>C (n.*456A>C)
c.*915A>C (n.*915A>C)
c.1229A>C (p.Glu410Ala)
c.692A>C (p.Glu231Ala)
c.971A>C (p.Glu324Ala)
c.-4294966277A>C
c.-4294965998A>C
c.893A>C (p.Glu298Ala)
2g.232534245A>GCA351005486CHRNDc.1274A>G (p.Glu425Gly)
c.*456A>G (n.*456A>G)
c.*915A>G (n.*915A>G)
c.1229A>G (p.Glu410Gly)
c.692A>G (p.Glu231Gly)
c.971A>G (p.Glu324Gly)
c.-4294966277A>G
c.-4294965998A>G
c.893A>G (p.Glu298Gly)
2g.232534245A>TCA351005487CHRNDc.1274A>T (p.Glu425Val)
c.*456A>T (n.*456A>T)
c.*915A>T (n.*915A>T)
c.1229A>T (p.Glu410Val)
c.692A>T (p.Glu231Val)
c.971A>T (p.Glu324Val)
c.-4294966277A>T
c.-4294965998A>T
c.893A>T (p.Glu298Val)
2g.232534246G>ACA431952406CHRNDc.1275G>A (p.Glu425=)
c.*457G>A (n.*457G>A)
c.*916G>A (n.*916G>A)
c.1230G>A (p.Glu410=)
c.693G>A (p.Glu231=)
c.972G>A (p.Glu324=)
c.-4294966276G>A
c.-4294965997G>A
c.894G>A (p.Glu298=)
2g.232534246G>CCA351005490CHRNDc.1275G>C (p.Glu425Asp)
c.*457G>C (n.*457G>C)
c.*916G>C (n.*916G>C)
c.1230G>C (p.Glu410Asp)
c.693G>C (p.Glu231Asp)
c.972G>C (p.Glu324Asp)
c.-4294966276G>C
c.-4294965997G>C
c.894G>C (p.Glu298Asp)
2g.232534246G>TCA351005491CHRNDc.1275G>T (p.Glu425Asp)
c.*457G>T (n.*457G>T)
c.*916G>T (n.*916G>T)
c.1230G>T (p.Glu410Asp)
c.693G>T (p.Glu231Asp)
c.972G>T (p.Glu324Asp)
c.-4294966276G>T
c.-4294965997G>T
c.894G>T (p.Glu298Asp)
gnomAD v4
2g.232534247C>ACA351005493CHRNDc.1276C>A (p.Gln426Lys)
c.*458C>A (n.*458C>A)
c.*917C>A (n.*917C>A)
c.1231C>A (p.Gln411Lys)
c.694C>A (p.Gln232Lys)
c.973C>A (p.Gln325Lys)
c.-4294966275C>A
c.-4294965996C>A
c.895C>A (p.Gln299Lys)
2g.232534247C>GCA351005498CHRNDc.1276C>G (p.Gln426Glu)
c.*458C>G (n.*458C>G)
c.*917C>G (n.*917C>G)
c.1231C>G (p.Gln411Glu)
c.694C>G (p.Gln232Glu)
c.973C>G (p.Gln325Glu)
c.-4294966275C>G
c.-4294965996C>G
c.895C>G (p.Gln299Glu)
2g.232534247C>TCA351005496CHRNDc.1276C>T (p.Gln426Ter)
c.*458C>T (n.*458C>T)
c.*917C>T (n.*917C>T)
c.1231C>T (p.Gln411Ter)
c.694C>T (p.Gln232Ter)
c.973C>T (p.Gln325Ter)
c.-4294966275C>T
c.-4294965996C>T
c.895C>T (p.Gln299Ter)
gnomAD v4
2g.232534248A>CCA351005500CHRNDc.1277A>C (p.Gln426Pro)
c.*459A>C (n.*459A>C)
c.*918A>C (n.*918A>C)
c.1232A>C (p.Gln411Pro)
c.695A>C (p.Gln232Pro)
c.974A>C (p.Gln325Pro)
c.-4294966274A>C
c.-4294965995A>C
c.896A>C (p.Gln299Pro)
2g.232534248A>GCA351005502CHRNDc.1277A>G (p.Gln426Arg)
c.*459A>G (n.*459A>G)
c.*918A>G (n.*918A>G)
c.1232A>G (p.Gln411Arg)
c.695A>G (p.Gln232Arg)
c.974A>G (p.Gln325Arg)
c.-4294966274A>G
c.-4294965995A>G
c.896A>G (p.Gln299Arg)
2g.232534248A>TCA351005504CHRNDc.1277A>T (p.Gln426Leu)
c.*459A>T (n.*459A>T)
c.*918A>T (n.*918A>T)
c.1232A>T (p.Gln411Leu)
c.695A>T (p.Gln232Leu)
c.974A>T (p.Gln325Leu)
c.-4294966274A>T
c.-4294965995A>T
c.896A>T (p.Gln299Leu)
2g.232534248_232534249delinsAGCA1335314078CHRNDc.1277_1278delinsAG (p.Gln426=)
c.*459_*460delinsAG (n.*459_*460delinsAG)
c.*918_*919delinsAG (n.*918_*919delinsAG)
c.1232_1233delinsAG (p.Gln411=)
c.695_696delinsAG (p.Gln232=)
c.974_975delinsAG (p.Gln325=)
c.-4294966274_-4294966273delinsAG
c.-4294965995_-4294965994delinsAG
c.896_897delinsAG (p.Gln299=)
2g.232534249G>ACA431952407CHRNDc.1278G>A (p.Gln426=)
c.*460G>A (n.*460G>A)
c.*919G>A (n.*919G>A)
c.1233G>A (p.Gln411=)
c.696G>A (p.Gln232=)
c.975G>A (p.Gln325=)
c.-4294966273G>A
c.-4294965994G>A
c.897G>A (p.Gln299=)
2g.232534249G>CCA351005506CHRNDc.1278G>C (p.Gln426His)
c.*460G>C (n.*460G>C)
c.*919G>C (n.*919G>C)
c.1233G>C (p.Gln411His)
c.696G>C (p.Gln232His)
c.975G>C (p.Gln325His)
c.-4294966273G>C
c.-4294965994G>C
c.897G>C (p.Gln299His)
2g.232534249G>TCA351005508CHRNDc.1278G>T (p.Gln426His)
c.*460G>T (n.*460G>T)
c.*919G>T (n.*919G>T)
c.1233G>T (p.Gln411His)
c.696G>T (p.Gln232His)
c.975G>T (p.Gln325His)
c.-4294966273G>T
c.-4294965994G>T
c.897G>T (p.Gln299His)
2g.232534250delCA66957678CHRNDc.1279del (p.Ala427ProfsTer9)
c.*461del (n.*461del)
c.*920del (n.*920del)
c.1234del (p.Ala412ProfsTer9)
c.697del (p.Ala233ProfsTer9)
c.976del (p.Ala326ProfsTer9)
c.-4294966272del
c.-4294965993del
c.898del (p.Ala300ProfsTer9)
dbSNP gnomAD v3 gnomAD v4
2g.232534250G>ACA351005512CHRNDc.1279G>A (p.Ala427Thr)
c.*461G>A (n.*461G>A)
c.*920G>A (n.*920G>A)
c.1234G>A (p.Ala412Thr)
c.697G>A (p.Ala233Thr)
c.976G>A (p.Ala326Thr)
c.-4294966272G>A
c.-4294965993G>A
c.898G>A (p.Ala300Thr)
2g.232534250G>CCA351005513CHRNDc.1279G>C (p.Ala427Pro)
c.*461G>C (n.*461G>C)
c.*920G>C (n.*920G>C)
c.1234G>C (p.Ala412Pro)
c.697G>C (p.Ala233Pro)
c.976G>C (p.Ala326Pro)
c.-4294966272G>C
c.-4294965993G>C
c.898G>C (p.Ala300Pro)
2g.232534250G=CA1335314079CHRNDc.1279G= (p.Ala427=)
c.*461G= (n.*461G=)
c.*920G= (n.*920G=)
c.1234G= (p.Ala412=)
c.697G= (p.Ala233=)
c.976G= (p.Ala326=)
c.-4294966272G=
c.-4294965993G=
c.898G= (p.Ala300=)
2g.232534250G>TCA351005515CHRNDc.1279G>T (p.Ala427Ser)
c.*461G>T (n.*461G>T)
c.*920G>T (n.*920G>T)
c.1234G>T (p.Ala412Ser)
c.697G>T (p.Ala233Ser)
c.976G>T (p.Ala326Ser)
c.-4294966272G>T
c.-4294965993G>T
c.898G>T (p.Ala300Ser)
dbSNP gnomAD v2 gnomAD v4
2g.232534251C>ACA351005518CHRNDc.1280C>A (p.Ala427Asp)
c.*462C>A (n.*462C>A)
c.*921C>A (n.*921C>A)
c.1235C>A (p.Ala412Asp)
c.698C>A (p.Ala233Asp)
c.977C>A (p.Ala326Asp)
c.-4294966271C>A
c.-4294965992C>A
c.899C>A (p.Ala300Asp)
COSMIC
2g.232534251C=CA1335314080CHRNDc.1280C= (p.Ala427=)
c.*462C= (n.*462C=)
c.*921C= (n.*921C=)
c.1235C= (p.Ala412=)
c.698C= (p.Ala233=)
c.977C= (p.Ala326=)
c.-4294966271C=
c.-4294965992C=
c.899C= (p.Ala300=)
2g.232534251C>GCA351005519CHRNDc.1280C>G (p.Ala427Gly)
c.*462C>G (n.*462C>G)
c.*921C>G (n.*921C>G)
c.1235C>G (p.Ala412Gly)
c.698C>G (p.Ala233Gly)
c.977C>G (p.Ala326Gly)
c.-4294966271C>G
c.-4294965992C>G
c.899C>G (p.Ala300Gly)
2g.232534251C>TCA351005521CHRNDc.1280C>T (p.Ala427Val)
c.*462C>T (n.*462C>T)
c.*921C>T (n.*921C>T)
c.1235C>T (p.Ala412Val)
c.698C>T (p.Ala233Val)
c.977C>T (p.Ala326Val)
c.-4294966271C>T
c.-4294965992C>T
c.899C>T (p.Ala300Val)
dbSNP
2g.232534252C>ACA431952408CHRNDc.1281C>A (p.Ala427=)
c.*463C>A (n.*463C>A)
c.*922C>A (n.*922C>A)
c.1236C>A (p.Ala412=)
c.699C>A (p.Ala233=)
c.978C>A (p.Ala326=)
c.-4294966270C>A
c.-4294965991C>A
c.900C>A (p.Ala300=)
2g.232534252C=CA1335314081CHRNDc.1281C= (p.Ala427=)
c.*463C= (n.*463C=)
c.*922C= (n.*922C=)
c.1236C= (p.Ala412=)
c.699C= (p.Ala233=)
c.978C= (p.Ala326=)
c.-4294966270C=
c.-4294965991C=
c.900C= (p.Ala300=)
2g.232534252C>GCA431952409CHRNDc.1281C>G (p.Ala427=)
c.*463C>G (n.*463C>G)
c.*922C>G (n.*922C>G)
c.1236C>G (p.Ala412=)
c.699C>G (p.Ala233=)
c.978C>G (p.Ala326=)
c.-4294966270C>G
c.-4294965991C>G
c.900C>G (p.Ala300=)
dbSNP gnomAD v2 gnomAD v4
2g.232534252C>TCA431952410CHRNDc.1281C>T (p.Ala427=)
c.*463C>T (n.*463C>T)
c.*922C>T (n.*922C>T)
c.1236C>T (p.Ala412=)
c.699C>T (p.Ala233=)
c.978C>T (p.Ala326=)
c.-4294966270C>T
c.-4294965991C>T
c.900C>T (p.Ala300=)
2g.232534253C>ACA351005526CHRNDc.1282C>A (p.Gln428Lys)
c.*464C>A (n.*464C>A)
c.*923C>A (n.*923C>A)
c.1237C>A (p.Gln413Lys)
c.700C>A (p.Gln234Lys)
c.979C>A (p.Gln327Lys)
c.-4294966269C>A
c.-4294965990C>A
c.901C>A (p.Gln301Lys)
dbSNP gnomAD v2 gnomAD v4
2g.232534253C=CA1335314082CHRNDc.1282C= (p.Gln428=)
c.*464C= (n.*464C=)
c.*923C= (n.*923C=)
c.1237C= (p.Gln413=)
c.700C= (p.Gln234=)
c.979C= (p.Gln327=)
c.-4294966269C=
c.-4294965990C=
c.901C= (p.Gln301=)
2g.232534253C>GCA351005523CHRNDc.1282C>G (p.Gln428Glu)
c.*464C>G (n.*464C>G)
c.*923C>G (n.*923C>G)
c.1237C>G (p.Gln413Glu)
c.700C>G (p.Gln234Glu)
c.979C>G (p.Gln327Glu)
c.-4294966269C>G
c.-4294965990C>G
c.901C>G (p.Gln301Glu)
2g.232534253C>TCA351005525CHRNDc.1282C>T (p.Gln428Ter)
c.*464C>T (n.*464C>T)
c.*923C>T (n.*923C>T)
c.1237C>T (p.Gln413Ter)
c.700C>T (p.Gln234Ter)
c.979C>T (p.Gln327Ter)
c.-4294966269C>T
c.-4294965990C>T
c.901C>T (p.Gln301Ter)
2g.232534254A>CCA351005529CHRNDc.1283A>C (p.Gln428Pro)
c.*465A>C (n.*465A>C)
c.*924A>C (n.*924A>C)
c.1238A>C (p.Gln413Pro)
c.701A>C (p.Gln234Pro)
c.980A>C (p.Gln327Pro)
c.-4294966268A>C
c.-4294965989A>C
c.902A>C (p.Gln301Pro)
2g.232534254A>GCA351005531CHRNDc.1283A>G (p.Gln428Arg)
c.*465A>G (n.*465A>G)
c.*924A>G (n.*924A>G)
c.1238A>G (p.Gln413Arg)
c.701A>G (p.Gln234Arg)
c.980A>G (p.Gln327Arg)
c.-4294966268A>G
c.-4294965989A>G
c.902A>G (p.Gln301Arg)
gnomAD v4
2g.232534254A>TCA351005532CHRNDc.1283A>T (p.Gln428Leu)
c.*465A>T (n.*465A>T)
c.*924A>T (n.*924A>T)
c.1238A>T (p.Gln413Leu)
c.701A>T (p.Gln234Leu)
c.980A>T (p.Gln327Leu)
c.-4294966268A>T
c.-4294965989A>T
c.902A>T (p.Gln301Leu)
2g.232534255G>ACA431952411CHRNDc.1284G>A (p.Gln428=)
c.*466G>A (n.*466G>A)
c.*925G>A (n.*925G>A)
c.1239G>A (p.Gln413=)
c.702G>A (p.Gln234=)
c.981G>A (p.Gln327=)
c.-4294966267G>A
c.-4294965988G>A
c.903G>A (p.Gln301=)
2g.232534255G>CCA351005535CHRNDc.1284G>C (p.Gln428His)
c.*466G>C (n.*466G>C)
c.*925G>C (n.*925G>C)
c.1239G>C (p.Gln413His)
c.702G>C (p.Gln234His)
c.981G>C (p.Gln327His)
c.-4294966267G>C
c.-4294965988G>C
c.903G>C (p.Gln301His)
2g.232534255G>TCA351005537CHRNDc.1284G>T (p.Gln428His)
c.*466G>T (n.*466G>T)
c.*925G>T (n.*925G>T)
c.1239G>T (p.Gln413His)
c.702G>T (p.Gln234His)
c.981G>T (p.Gln327His)
c.-4294966267G>T
c.-4294965988G>T
c.903G>T (p.Gln301His)
2g.232534256C>ACA351005539CHRNDc.1285C>A (p.Gln429Lys)
c.*467C>A (n.*467C>A)
c.*926C>A (n.*926C>A)
c.1240C>A (p.Gln414Lys)
c.703C>A (p.Gln235Lys)
c.982C>A (p.Gln328Lys)
c.-4294966266C>A
c.-4294965987C>A
c.904C>A (p.Gln302Lys)
2g.232534256C>GCA351005541CHRNDc.1285C>G (p.Gln429Glu)
c.*467C>G (n.*467C>G)
c.*926C>G (n.*926C>G)
c.1240C>G (p.Gln414Glu)
c.703C>G (p.Gln235Glu)
c.982C>G (p.Gln328Glu)
c.-4294966266C>G
c.-4294965987C>G
c.904C>G (p.Gln302Glu)
2g.232534256C>TCA351005543CHRNDc.1285C>T (p.Gln429Ter)
c.*467C>T (n.*467C>T)
c.*926C>T (n.*926C>T)
c.1240C>T (p.Gln414Ter)
c.703C>T (p.Gln235Ter)
c.982C>T (p.Gln328Ter)
c.-4294966266C>T
c.-4294965987C>T
c.904C>T (p.Gln302Ter)
2g.232534257A=CA1335314083CHRNDc.1286A= (p.Gln429=)
c.*468A= (n.*468A=)
c.*927A= (n.*927A=)
c.1241A= (p.Gln414=)
c.704A= (p.Gln235=)
c.983A= (p.Gln328=)
c.-4294966265A=
c.-4294965986A=
c.905A= (p.Gln302=)
2g.232534257A>CCA351005545CHRNDc.1286A>C (p.Gln429Pro)
c.*468A>C (n.*468A>C)
c.*927A>C (n.*927A>C)
c.1241A>C (p.Gln414Pro)
c.704A>C (p.Gln235Pro)
c.983A>C (p.Gln328Pro)
c.-4294966265A>C
c.-4294965986A>C
c.905A>C (p.Gln302Pro)
2g.232534257A>GCA351005547CHRNDc.1286A>G (p.Gln429Arg)
c.*468A>G (n.*468A>G)
c.*927A>G (n.*927A>G)
c.1241A>G (p.Gln414Arg)
c.704A>G (p.Gln235Arg)
c.983A>G (p.Gln328Arg)
c.-4294966265A>G
c.-4294965986A>G
c.905A>G (p.Gln302Arg)
dbSNP
2g.232534257A>TCA351005548CHRNDc.1286A>T (p.Gln429Leu)
c.*468A>T (n.*468A>T)
c.*927A>T (n.*927A>T)
c.1241A>T (p.Gln414Leu)
c.704A>T (p.Gln235Leu)
c.983A>T (p.Gln328Leu)
c.-4294966265A>T
c.-4294965986A>T
c.905A>T (p.Gln302Leu)
2g.232534258G>ACA431952412CHRNDc.1287G>A (p.Gln429=)
c.*469G>A (n.*469G>A)
c.*928G>A (n.*928G>A)
c.1242G>A (p.Gln414=)
c.705G>A (p.Gln235=)
c.984G>A (p.Gln328=)
c.-4294966264G>A
c.-4294965985G>A
c.906G>A (p.Gln302=)
2g.232534258G>CCA351005550CHRNDc.1287G>C (p.Gln429His)
c.*469G>C (n.*469G>C)
c.*928G>C (n.*928G>C)
c.1242G>C (p.Gln414His)
c.705G>C (p.Gln235His)
c.984G>C (p.Gln328His)
c.-4294966264G>C
c.-4294965985G>C
c.906G>C (p.Gln302His)
2g.232534258G>TCA351005549CHRNDc.1287G>T (p.Gln429His)
c.*469G>T (n.*469G>T)
c.*928G>T (n.*928G>T)
c.1242G>T (p.Gln414His)
c.705G>T (p.Gln235His)
c.984G>T (p.Gln328His)
c.-4294966264G>T
c.-4294965985G>T
c.906G>T (p.Gln302His)
2g.232534259G>ACA351005553CHRNDc.1288G>A (p.Glu430Lys)
c.*470G>A (n.*470G>A)
c.*929G>A (n.*929G>A)
c.1243G>A (p.Glu415Lys)
c.706G>A (p.Glu236Lys)
c.985G>A (p.Glu329Lys)
c.-4294966263G>A
c.-4294965984G>A
c.907G>A (p.Glu303Lys)
COSMIC
2g.232534259G>CCA351005556CHRNDc.1288G>C (p.Glu430Gln)
c.*470G>C (n.*470G>C)
c.*929G>C (n.*929G>C)
c.1243G>C (p.Glu415Gln)
c.706G>C (p.Glu236Gln)
c.985G>C (p.Glu329Gln)
c.-4294966263G>C
c.-4294965984G>C
c.907G>C (p.Glu303Gln)
2g.232534259G>TCA351005555CHRNDc.1288G>T (p.Glu430Ter)
c.*470G>T (n.*470G>T)
c.*929G>T (n.*929G>T)
c.1243G>T (p.Glu415Ter)
c.706G>T (p.Glu236Ter)
c.985G>T (p.Glu329Ter)
c.-4294966263G>T
c.-4294965984G>T
c.907G>T (p.Glu303Ter)
gnomAD v4
2g.232534260A>CCA351005557CHRNDc.1289A>C (p.Glu430Ala)
c.*471A>C (n.*471A>C)
c.*930A>C (n.*930A>C)
c.1244A>C (p.Glu415Ala)
c.707A>C (p.Glu236Ala)
c.986A>C (p.Glu329Ala)
c.-4294966262A>C
c.-4294965983A>C
c.908A>C (p.Glu303Ala)
2g.232534260A>GCA351005559CHRNDc.1289A>G (p.Glu430Gly)
c.*471A>G (n.*471A>G)
c.*930A>G (n.*930A>G)
c.1244A>G (p.Glu415Gly)
c.707A>G (p.Glu236Gly)
c.986A>G (p.Glu329Gly)
c.-4294966262A>G
c.-4294965983A>G
c.908A>G (p.Glu303Gly)
2g.232534260A>TCA351005560CHRNDc.1289A>T (p.Glu430Val)
c.*471A>T (n.*471A>T)
c.*930A>T (n.*930A>T)
c.1244A>T (p.Glu415Val)
c.707A>T (p.Glu236Val)
c.986A>T (p.Glu329Val)
c.-4294966262A>T
c.-4294965983A>T
c.908A>T (p.Glu303Val)
2g.232534261A=CA1335314084CHRNDc.1290A= (p.Glu430=)
c.*472A= (n.*472A=)
c.*931A= (n.*931A=)
c.1245A= (p.Glu415=)
c.708A= (p.Glu236=)
c.987A= (p.Glu329=)
c.-4294966261A=
c.-4294965982A=
c.909A= (p.Glu303=)
2g.232534261A>CCA351005562CHRNDc.1290A>C (p.Glu430Asp)
c.*472A>C (n.*472A>C)
c.*931A>C (n.*931A>C)
c.1245A>C (p.Glu415Asp)
c.708A>C (p.Glu236Asp)
c.987A>C (p.Glu329Asp)
c.-4294966261A>C
c.-4294965982A>C
c.909A>C (p.Glu303Asp)
2g.232534261A>GCA431952413CHRNDc.1290A>G (p.Glu430=)
c.*472A>G (n.*472A>G)
c.*931A>G (n.*931A>G)
c.1245A>G (p.Glu415=)
c.708A>G (p.Glu236=)
c.987A>G (p.Glu329=)
c.-4294966261A>G
c.-4294965982A>G
c.909A>G (p.Glu303=)
gnomAD v4
2g.232534261A>TCA351005564CHRNDc.1290A>T (p.Glu430Asp)
c.*472A>T (n.*472A>T)
c.*931A>T (n.*931A>T)
c.1245A>T (p.Glu415Asp)
c.708A>T (p.Glu236Asp)
c.987A>T (p.Glu329Asp)
c.-4294966261A>T
c.-4294965982A>T
c.909A>T (p.Glu303Asp)
ClinVar dbSNP
2g.232534262C>ACA351005566CHRNDc.1291C>A (p.Leu431Ile)
c.*473C>A (n.*473C>A)
c.*932C>A (n.*932C>A)
c.1246C>A (p.Leu416Ile)
c.709C>A (p.Leu237Ile)
c.988C>A (p.Leu330Ile)
c.-4294966260C>A
c.-4294965981C>A
c.910C>A (p.Leu304Ile)
2g.232534262C>GCA351005568CHRNDc.1291C>G (p.Leu431Val)
c.*473C>G (n.*473C>G)
c.*932C>G (n.*932C>G)
c.1246C>G (p.Leu416Val)
c.709C>G (p.Leu237Val)
c.988C>G (p.Leu330Val)
c.-4294966260C>G
c.-4294965981C>G
c.910C>G (p.Leu304Val)
2g.232534262C>TCA351005569CHRNDc.1291C>T (p.Leu431Phe)
c.*473C>T (n.*473C>T)
c.*932C>T (n.*932C>T)
c.1246C>T (p.Leu416Phe)
c.709C>T (p.Leu237Phe)
c.988C>T (p.Leu330Phe)
c.-4294966260C>T
c.-4294965981C>T
c.910C>T (p.Leu304Phe)
2g.232534263T>ACA66957683CHRNDc.1292T>A (p.Leu431His)
c.*474T>A (n.*474T>A)
c.*933T>A (n.*933T>A)
c.1247T>A (p.Leu416His)
c.710T>A (p.Leu237His)
c.989T>A (p.Leu330His)
c.-4294966259T>A
c.-4294965980T>A
c.911T>A (p.Leu304His)
dbSNP
2g.232534263T>CCA351005573CHRNDc.1292T>C (p.Leu431Pro)
c.*474T>C (n.*474T>C)
c.*933T>C (n.*933T>C)
c.1247T>C (p.Leu416Pro)
c.710T>C (p.Leu237Pro)
c.989T>C (p.Leu330Pro)
c.-4294966259T>C
c.-4294965980T>C
c.911T>C (p.Leu304Pro)
2g.232534263T>GCA351005574CHRNDc.1292T>G (p.Leu431Arg)
c.*474T>G (n.*474T>G)
c.*933T>G (n.*933T>G)
c.1247T>G (p.Leu416Arg)
c.710T>G (p.Leu237Arg)
c.989T>G (p.Leu330Arg)
c.-4294966259T>G
c.-4294965980T>G
c.911T>G (p.Leu304Arg)
2g.232534263T=CA1335314085CHRNDc.1292T= (p.Leu431=)
c.*474T= (n.*474T=)
c.*933T= (n.*933T=)
c.1247T= (p.Leu416=)
c.710T= (p.Leu237=)
c.989T= (p.Leu330=)
c.-4294966259T=
c.-4294965980T=
c.911T= (p.Leu304=)
2g.232534264C>ACA431952419CHRNDc.1293C>A (p.Leu431=)
c.*475C>A (n.*475C>A)
c.*934C>A (n.*934C>A)
c.1248C>A (p.Leu416=)
c.711C>A (p.Leu237=)
c.990C>A (p.Leu330=)
c.-4294966258C>A
c.-4294965979C>A
c.912C>A (p.Leu304=)
2g.232534264C>GCA431952418CHRNDc.1293C>G (p.Leu431=)
c.*475C>G (n.*475C>G)
c.*934C>G (n.*934C>G)
c.1248C>G (p.Leu416=)
c.711C>G (p.Leu237=)
c.990C>G (p.Leu330=)
c.-4294966258C>G
c.-4294965979C>G
c.912C>G (p.Leu304=)
2g.232534264C>TCA431952417CHRNDc.1293C>T (p.Leu431=)
c.*475C>T (n.*475C>T)
c.*934C>T (n.*934C>T)
c.1248C>T (p.Leu416=)
c.711C>T (p.Leu237=)
c.990C>T (p.Leu330=)
c.-4294966258C>T
c.-4294965979C>T
c.912C>T (p.Leu304=)
gnomAD v4
2g.232534265T>ACA351005580CHRNDc.1294T>A (p.Phe432Ile)
c.*476T>A (n.*476T>A)
c.*935T>A (n.*935T>A)
c.1249T>A (p.Phe417Ile)
c.712T>A (p.Phe238Ile)
c.991T>A (p.Phe331Ile)
c.-4294966257T>A
c.-4294965978T>A
c.913T>A (p.Phe305Ile)
2g.232534265T>CCA351005577CHRNDc.1294T>C (p.Phe432Leu)
c.*476T>C (n.*476T>C)
c.*935T>C (n.*935T>C)
c.1249T>C (p.Phe417Leu)
c.712T>C (p.Phe238Leu)
c.991T>C (p.Phe331Leu)
c.-4294966257T>C
c.-4294965978T>C
c.913T>C (p.Phe305Leu)
2g.232534265T>GCA351005579CHRNDc.1294T>G (p.Phe432Val)
c.*476T>G (n.*476T>G)
c.*935T>G (n.*935T>G)
c.1249T>G (p.Phe417Val)
c.712T>G (p.Phe238Val)
c.991T>G (p.Phe331Val)
c.-4294966257T>G
c.-4294965978T>G
c.913T>G (p.Phe305Val)
2g.232534266T>ACA351005582CHRNDc.1295T>A (p.Phe432Tyr)
c.*477T>A (n.*477T>A)
c.*936T>A (n.*936T>A)
c.1250T>A (p.Phe417Tyr)
c.713T>A (p.Phe238Tyr)
c.992T>A (p.Phe331Tyr)
c.-4294966256T>A
c.-4294965977T>A
c.914T>A (p.Phe305Tyr)
2g.232534266T>CCA351005584CHRNDc.1295T>C (p.Phe432Ser)
c.*477T>C (n.*477T>C)
c.*936T>C (n.*936T>C)
c.1250T>C (p.Phe417Ser)
c.713T>C (p.Phe238Ser)
c.992T>C (p.Phe331Ser)
c.-4294966256T>C
c.-4294965977T>C
c.914T>C (p.Phe305Ser)
2g.232534266T>GCA2168319CHRNDc.1295T>G (p.Phe432Cys)
c.*477T>G (n.*477T>G)
c.*936T>G (n.*936T>G)
c.1250T>G (p.Phe417Cys)
c.713T>G (p.Phe238Cys)
c.992T>G (p.Phe331Cys)
c.-4294966256T>G
c.-4294965977T>G
c.914T>G (p.Phe305Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.232534266T=CA1335314086CHRNDc.1295T= (p.Phe432=)
c.*477T= (n.*477T=)
c.*936T= (n.*936T=)
c.1250T= (p.Phe417=)
c.713T= (p.Phe238=)
c.992T= (p.Phe331=)
c.-4294966256T=
c.-4294965977T=
c.914T= (p.Phe305=)
2g.232534267C>ACA351005586CHRNDc.1296C>A (p.Phe432Leu)
c.*478C>A (n.*478C>A)
c.*937C>A (n.*937C>A)
c.1251C>A (p.Phe417Leu)
c.714C>A (p.Phe238Leu)
c.993C>A (p.Phe331Leu)
c.-4294966255C>A
c.-4294965976C>A
c.915C>A (p.Phe305Leu)
2g.232534267C>GCA351005588CHRNDc.1296C>G (p.Phe432Leu)
c.*478C>G (n.*478C>G)
c.*937C>G (n.*937C>G)
c.1251C>G (p.Phe417Leu)
c.714C>G (p.Phe238Leu)
c.993C>G (p.Phe331Leu)
c.-4294966255C>G
c.-4294965976C>G
c.915C>G (p.Phe305Leu)
2g.232534267C>TCA431952421CHRNDc.1296C>T (p.Phe432=)
c.*478C>T (n.*478C>T)
c.*937C>T (n.*937C>T)
c.1251C>T (p.Phe417=)
c.714C>T (p.Phe238=)
c.993C>T (p.Phe331=)
c.-4294966255C>T
c.-4294965976C>T
c.915C>T (p.Phe305=)
2g.232534268A>CCA351005590CHRNDc.1297A>C (p.Asn433His)
c.*479A>C (n.*479A>C)
c.*938A>C (n.*938A>C)
c.1252A>C (p.Asn418His)
c.715A>C (p.Asn239His)
c.994A>C (p.Asn332His)
c.-4294966254A>C
c.-4294965975A>C
c.916A>C (p.Asn306His)
2g.232534268A>GCA351005592CHRNDc.1297A>G (p.Asn433Asp)
c.*479A>G (n.*479A>G)
c.*938A>G (n.*938A>G)
c.1252A>G (p.Asn418Asp)
c.715A>G (p.Asn239Asp)
c.994A>G (p.Asn332Asp)
c.-4294966254A>G
c.-4294965975A>G
c.916A>G (p.Asn306Asp)
2g.232534268A>TCA351005594CHRNDc.1297A>T (p.Asn433Tyr)
c.*479A>T (n.*479A>T)
c.*938A>T (n.*938A>T)
c.1252A>T (p.Asn418Tyr)
c.715A>T (p.Asn239Tyr)
c.994A>T (p.Asn332Tyr)
c.-4294966254A>T
c.-4294965975A>T
c.916A>T (p.Asn306Tyr)
2g.232534269A=CA1335314087CHRNDc.1298A= (p.Asn433=)
c.*480A= (n.*480A=)
c.*939A= (n.*939A=)
c.1253A= (p.Asn418=)
c.716A= (p.Asn239=)
c.995A= (p.Asn332=)
c.-4294966253A=
c.-4294965974A=
c.917A= (p.Asn306=)
2g.232534269A>CCA351005596CHRNDc.1298A>C (p.Asn433Thr)
c.*480A>C (n.*480A>C)
c.*939A>C (n.*939A>C)
c.1253A>C (p.Asn418Thr)
c.716A>C (p.Asn239Thr)
c.995A>C (p.Asn332Thr)
c.-4294966253A>C
c.-4294965974A>C
c.917A>C (p.Asn306Thr)
2g.232534269A>GCA2168320CHRNDc.1298A>G (p.Asn433Ser)
c.*480A>G (n.*480A>G)
c.*939A>G (n.*939A>G)
c.1253A>G (p.Asn418Ser)
c.716A>G (p.Asn239Ser)
c.995A>G (p.Asn332Ser)
c.-4294966253A>G
c.-4294965974A>G
c.917A>G (p.Asn306Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534269A>TCA351005598CHRNDc.1298A>T (p.Asn433Ile)
c.*480A>T (n.*480A>T)
c.*939A>T (n.*939A>T)
c.1253A>T (p.Asn418Ile)
c.716A>T (p.Asn239Ile)
c.995A>T (p.Asn332Ile)
c.-4294966253A>T
c.-4294965974A>T
c.917A>T (p.Asn306Ile)
2g.232534270T>ACA351005603CHRNDc.1299T>A (p.Asn433Lys)
c.*481T>A (n.*481T>A)
c.*940T>A (n.*940T>A)
c.1254T>A (p.Asn418Lys)
c.717T>A (p.Asn239Lys)
c.996T>A (p.Asn332Lys)
c.-4294966252T>A
c.-4294965973T>A
c.918T>A (p.Asn306Lys)
2g.232534270T>CCA2168321CHRNDc.1299T>C (p.Asn433=)
c.*481T>C (n.*481T>C)
c.*940T>C (n.*940T>C)
c.1254T>C (p.Asn418=)
c.717T>C (p.Asn239=)
c.996T>C (p.Asn332=)
c.-4294966252T>C
c.-4294965973T>C
c.918T>C (p.Asn306=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534270T>GCA351005601CHRNDc.1299T>G (p.Asn433Lys)
c.*481T>G (n.*481T>G)
c.*940T>G (n.*940T>G)
c.1254T>G (p.Asn418Lys)
c.717T>G (p.Asn239Lys)
c.996T>G (p.Asn332Lys)
c.-4294966252T>G
c.-4294965973T>G
c.918T>G (p.Asn306Lys)
2g.232534270T=CA1335314088CHRNDc.1299T= (p.Asn433=)
c.*481T= (n.*481T=)
c.*940T= (n.*940T=)
c.1254T= (p.Asn418=)
c.717T= (p.Asn239=)
c.996T= (p.Asn332=)
c.-4294966252T=
c.-4294965973T=
c.918T= (p.Asn306=)
2g.232534271G>ACA351005606CHRNDc.1300G>A (p.Glu434Lys)
c.*482G>A (n.*482G>A)
c.*941G>A (n.*941G>A)
c.1255G>A (p.Glu419Lys)
c.718G>A (p.Glu240Lys)
c.997G>A (p.Glu333Lys)
c.-4294966251G>A
c.-4294965972G>A
c.919G>A (p.Glu307Lys)
gnomAD v4
2g.232534271G>CCA351005608CHRNDc.1300G>C (p.Glu434Gln)
c.*482G>C (n.*482G>C)
c.*941G>C (n.*941G>C)
c.1255G>C (p.Glu419Gln)
c.718G>C (p.Glu240Gln)
c.997G>C (p.Glu333Gln)
c.-4294966251G>C
c.-4294965972G>C
c.919G>C (p.Glu307Gln)
2g.232534271G>TCA351005610CHRNDc.1300G>T (p.Glu434Ter)
c.*482G>T (n.*482G>T)
c.*941G>T (n.*941G>T)
c.1255G>T (p.Glu419Ter)
c.718G>T (p.Glu240Ter)
c.997G>T (p.Glu333Ter)
c.-4294966251G>T
c.-4294965972G>T
c.919G>T (p.Glu307Ter)
2g.232534272A>CCA351005611CHRNDc.1301A>C (p.Glu434Ala)
c.*483A>C (n.*483A>C)
c.*942A>C (n.*942A>C)
c.1256A>C (p.Glu419Ala)
c.719A>C (p.Glu240Ala)
c.998A>C (p.Glu333Ala)
c.-4294966250A>C
c.-4294965971A>C
c.920A>C (p.Glu307Ala)
2g.232534272A>GCA351005612CHRNDc.1301A>G (p.Glu434Gly)
c.*483A>G (n.*483A>G)
c.*942A>G (n.*942A>G)
c.1256A>G (p.Glu419Gly)
c.719A>G (p.Glu240Gly)
c.998A>G (p.Glu333Gly)
c.-4294966250A>G
c.-4294965971A>G
c.920A>G (p.Glu307Gly)
2g.232534272A>TCA351005613CHRNDc.1301A>T (p.Glu434Val)
c.*483A>T (n.*483A>T)
c.*942A>T (n.*942A>T)
c.1256A>T (p.Glu419Val)
c.719A>T (p.Glu240Val)
c.998A>T (p.Glu333Val)
c.-4294966250A>T
c.-4294965971A>T
c.920A>T (p.Glu307Val)
2g.232534273G>ACA431952426CHRNDc.1302G>A (p.Glu434=)
c.*484G>A (n.*484G>A)
c.*943G>A (n.*943G>A)
c.1257G>A (p.Glu419=)
c.720G>A (p.Glu240=)
c.999G>A (p.Glu333=)
c.-4294966249G>A
c.-4294965970G>A
c.921G>A (p.Glu307=)
2g.232534273G>CCA351005615CHRNDc.1302G>C (p.Glu434Asp)
c.*484G>C (n.*484G>C)
c.*943G>C (n.*943G>C)
c.1257G>C (p.Glu419Asp)
c.720G>C (p.Glu240Asp)
c.999G>C (p.Glu333Asp)
c.-4294966249G>C
c.-4294965970G>C
c.921G>C (p.Glu307Asp)
2g.232534273G>TCA351005617CHRNDc.1302G>T (p.Glu434Asp)
c.*484G>T (n.*484G>T)
c.*943G>T (n.*943G>T)
c.1257G>T (p.Glu419Asp)
c.720G>T (p.Glu240Asp)
c.999G>T (p.Glu333Asp)
c.-4294966249G>T
c.-4294965970G>T
c.921G>T (p.Glu307Asp)
2g.232534274C>ACA351005618CHRNDc.1303C>A (p.Leu435Met)
c.*485C>A (n.*485C>A)
c.*944C>A (n.*944C>A)
c.1258C>A (p.Leu420Met)
c.721C>A (p.Leu241Met)
c.1000C>A (p.Leu334Met)
c.-4294966248C>A
c.-4294965969C>A
c.922C>A (p.Leu308Met)
2g.232534274C>GCA351005619CHRNDc.1303C>G (p.Leu435Val)
c.*485C>G (n.*485C>G)
c.*944C>G (n.*944C>G)
c.1258C>G (p.Leu420Val)
c.721C>G (p.Leu241Val)
c.1000C>G (p.Leu334Val)
c.-4294966248C>G
c.-4294965969C>G
c.922C>G (p.Leu308Val)
2g.232534274C>TCA431952427CHRNDc.1303C>T (p.Leu435=)
c.*485C>T (n.*485C>T)
c.*944C>T (n.*944C>T)
c.1258C>T (p.Leu420=)
c.721C>T (p.Leu241=)
c.1000C>T (p.Leu334=)
c.-4294966248C>T
c.-4294965969C>T
c.922C>T (p.Leu308=)
2g.232534275T>ACA351005621CHRNDc.1304T>A (p.Leu435Gln)
c.*486T>A (n.*486T>A)
c.*945T>A (n.*945T>A)
c.1259T>A (p.Leu420Gln)
c.722T>A (p.Leu241Gln)
c.1001T>A (p.Leu334Gln)
c.-4294966247T>A
c.-4294965968T>A
c.923T>A (p.Leu308Gln)
2g.232534275T>CCA351005623CHRNDc.1304T>C (p.Leu435Pro)
c.*486T>C (n.*486T>C)
c.*945T>C (n.*945T>C)
c.1259T>C (p.Leu420Pro)
c.722T>C (p.Leu241Pro)
c.1001T>C (p.Leu334Pro)
c.-4294966247T>C
c.-4294965968T>C
c.923T>C (p.Leu308Pro)
2g.232534275T>GCA351005625CHRNDc.1304T>G (p.Leu435Arg)
c.*486T>G (n.*486T>G)
c.*945T>G (n.*945T>G)
c.1259T>G (p.Leu420Arg)
c.722T>G (p.Leu241Arg)
c.1001T>G (p.Leu334Arg)
c.-4294966247T>G
c.-4294965968T>G
c.923T>G (p.Leu308Arg)
2g.232534276G>ACA431952428CHRNDc.1305G>A (p.Leu435=)
c.*487G>A (n.*487G>A)
c.*946G>A (n.*946G>A)
c.1260G>A (p.Leu420=)
c.723G>A (p.Leu241=)
c.1002G>A (p.Leu334=)
c.-4294966246G>A
c.-4294965967G>A
c.924G>A (p.Leu308=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232534276G>CCA431952430CHRNDc.1305G>C (p.Leu435=)
c.*487G>C (n.*487G>C)
c.*946G>C (n.*946G>C)
c.1260G>C (p.Leu420=)
c.723G>C (p.Leu241=)
c.1002G>C (p.Leu334=)
c.-4294966246G>C
c.-4294965967G>C
c.924G>C (p.Leu308=)
2g.232534276G=CA1335314089CHRNDc.1305G= (p.Leu435=)
c.*487G= (n.*487G=)
c.*946G= (n.*946G=)
c.1260G= (p.Leu420=)
c.723G= (p.Leu241=)
c.1002G= (p.Leu334=)
c.-4294966246G=
c.-4294965967G=
c.924G= (p.Leu308=)
2g.232534276G>TCA431952432CHRNDc.1305G>T (p.Leu435=)
c.*487G>T (n.*487G>T)
c.*946G>T (n.*946G>T)
c.1260G>T (p.Leu420=)
c.723G>T (p.Leu241=)
c.1002G>T (p.Leu334=)
c.-4294966246G>T
c.-4294965967G>T
c.924G>T (p.Leu308=)
2g.232534277A>CCA351005631CHRNDc.1306A>C (p.Lys436Gln)
c.*488A>C (n.*488A>C)
c.*947A>C (n.*947A>C)
c.1261A>C (p.Lys421Gln)
c.724A>C (p.Lys242Gln)
c.1003A>C (p.Lys335Gln)
c.-4294966245A>C
c.-4294965966A>C
c.925A>C (p.Lys309Gln)
gnomAD v4
2g.232534277A>GCA351005629CHRNDc.1306A>G (p.Lys436Glu)
c.*488A>G (n.*488A>G)
c.*947A>G (n.*947A>G)
c.1261A>G (p.Lys421Glu)
c.724A>G (p.Lys242Glu)
c.1003A>G (p.Lys335Glu)
c.-4294966245A>G
c.-4294965966A>G
c.925A>G (p.Lys309Glu)
2g.232534277A>TCA351005627CHRNDc.1306A>T (p.Lys436Ter)
c.*488A>T (n.*488A>T)
c.*947A>T (n.*947A>T)
c.1261A>T (p.Lys421Ter)
c.724A>T (p.Lys242Ter)
c.1003A>T (p.Lys335Ter)
c.-4294966245A>T
c.-4294965966A>T
c.925A>T (p.Lys309Ter)
2g.232534278A=CA1335314090CHRNDc.1307A= (p.Lys436=)
c.*489A= (n.*489A=)
c.*948A= (n.*948A=)
c.1262A= (p.Lys421=)
c.725A= (p.Lys242=)
c.1004A= (p.Lys335=)
c.-4294966244A=
c.-4294965965A=
c.926A= (p.Lys309=)
2g.232534278A>CCA351005632CHRNDc.1307A>C (p.Lys436Thr)
c.*489A>C (n.*489A>C)
c.*948A>C (n.*948A>C)
c.1262A>C (p.Lys421Thr)
c.725A>C (p.Lys242Thr)
c.1004A>C (p.Lys335Thr)
c.-4294966244A>C
c.-4294965965A>C
c.926A>C (p.Lys309Thr)
2g.232534278A>GCA351005634CHRNDc.1307A>G (p.Lys436Arg)
c.*489A>G (n.*489A>G)
c.*948A>G (n.*948A>G)
c.1262A>G (p.Lys421Arg)
c.725A>G (p.Lys242Arg)
c.1004A>G (p.Lys335Arg)
c.-4294966244A>G
c.-4294965965A>G
c.926A>G (p.Lys309Arg)
dbSNP gnomAD v4
2g.232534278A>TCA351005636CHRNDc.1307A>T (p.Lys436Met)
c.*489A>T (n.*489A>T)
c.*948A>T (n.*948A>T)
c.1262A>T (p.Lys421Met)
c.725A>T (p.Lys242Met)
c.1004A>T (p.Lys335Met)
c.-4294966244A>T
c.-4294965965A>T
c.926A>T (p.Lys309Met)
2g.232534279G>ACA431952435CHRNDc.1308G>A (p.Lys436=)
c.*490G>A (n.*490G>A)
c.*949G>A (n.*949G>A)
c.1263G>A (p.Lys421=)
c.726G>A (p.Lys242=)
c.1005G>A (p.Lys335=)
c.-4294966243G>A
c.-4294965964G>A
c.927G>A (p.Lys309=)
dbSNP gnomAD v3 gnomAD v4
2g.232534279G>CCA351005637CHRNDc.1308G>C (p.Lys436Asn)
c.*490G>C (n.*490G>C)
c.*949G>C (n.*949G>C)
c.1263G>C (p.Lys421Asn)
c.726G>C (p.Lys242Asn)
c.1005G>C (p.Lys335Asn)
c.-4294966243G>C
c.-4294965964G>C
c.927G>C (p.Lys309Asn)
2g.232534279G=CA1335314091CHRNDc.1308G= (p.Lys436=)
c.*490G= (n.*490G=)
c.*949G= (n.*949G=)
c.1263G= (p.Lys421=)
c.726G= (p.Lys242=)
c.1005G= (p.Lys335=)
c.-4294966243G=
c.-4294965964G=
c.927G= (p.Lys309=)
2g.232534279G>TCA351005639CHRNDc.1308G>T (p.Lys436Asn)
c.*490G>T (n.*490G>T)
c.*949G>T (n.*949G>T)
c.1263G>T (p.Lys421Asn)
c.726G>T (p.Lys242Asn)
c.1005G>T (p.Lys335Asn)
c.-4294966243G>T
c.-4294965964G>T
c.927G>T (p.Lys309Asn)
2g.232534280C>ACA351005642CHRNDc.1309C>A (p.Pro437Thr)
c.*491C>A (n.*491C>A)
c.*950C>A (n.*950C>A)
c.1264C>A (p.Pro422Thr)
c.727C>A (p.Pro243Thr)
c.1006C>A (p.Pro336Thr)
c.-4294966242C>A
c.-4294965963C>A
c.928C>A (p.Pro310Thr)
gnomAD v4
2g.232534280C>GCA351005643CHRNDc.1309C>G (p.Pro437Ala)
c.*491C>G (n.*491C>G)
c.*950C>G (n.*950C>G)
c.1264C>G (p.Pro422Ala)
c.727C>G (p.Pro243Ala)
c.1006C>G (p.Pro336Ala)
c.-4294966242C>G
c.-4294965963C>G
c.928C>G (p.Pro310Ala)
2g.232534280C>TCA351005644CHRNDc.1309C>T (p.Pro437Ser)
c.*491C>T (n.*491C>T)
c.*950C>T (n.*950C>T)
c.1264C>T (p.Pro422Ser)
c.727C>T (p.Pro243Ser)
c.1006C>T (p.Pro336Ser)
c.-4294966242C>T
c.-4294965963C>T
c.928C>T (p.Pro310Ser)
2g.232534281C>ACA351005646CHRNDc.1310C>A (p.Pro437Gln)
c.*492C>A (n.*492C>A)
c.*951C>A (n.*951C>A)
c.1265C>A (p.Pro422Gln)
c.728C>A (p.Pro243Gln)
c.1007C>A (p.Pro336Gln)
c.-4294966241C>A
c.-4294965962C>A
c.929C>A (p.Pro310Gln)
gnomAD v4
2g.232534281C=CA1335314092CHRNDc.1310C= (p.Pro437=)
c.*492C= (n.*492C=)
c.*951C= (n.*951C=)
c.1265C= (p.Pro422=)
c.728C= (p.Pro243=)
c.1007C= (p.Pro336=)
c.-4294966241C=
c.-4294965962C=
c.929C= (p.Pro310=)
2g.232534281C>GCA351005648CHRNDc.1310C>G (p.Pro437Arg)
c.*492C>G (n.*492C>G)
c.*951C>G (n.*951C>G)
c.1265C>G (p.Pro422Arg)
c.728C>G (p.Pro243Arg)
c.1007C>G (p.Pro336Arg)
c.-4294966241C>G
c.-4294965962C>G
c.929C>G (p.Pro310Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232534281C>TCA351005650CHRNDc.1310C>T (p.Pro437Leu)
c.*492C>T (n.*492C>T)
c.*951C>T (n.*951C>T)
c.1265C>T (p.Pro422Leu)
c.728C>T (p.Pro243Leu)
c.1007C>T (p.Pro336Leu)
c.-4294966241C>T
c.-4294965962C>T
c.929C>T (p.Pro310Leu)
gnomAD v4
2g.232534282delCA2577278164CHRNDc.1311del (p.Ala438LeufsTer12)
c.*493del (n.*493del)
c.*952del (n.*952del)
c.1266del (p.Ala423LeufsTer12)
c.729del (p.Ala244LeufsTer12)
c.1008del (p.Ala337LeufsTer12)
c.-4294966240del
c.-4294965961del
c.930del (p.Ala311LeufsTer12)
2g.232534282A>CCA431952439CHRNDc.1311A>C (p.Pro437=)
c.*493A>C (n.*493A>C)
c.*952A>C (n.*952A>C)
c.1266A>C (p.Pro422=)
c.729A>C (p.Pro243=)
c.1008A>C (p.Pro336=)
c.-4294966240A>C
c.-4294965961A>C
c.930A>C (p.Pro310=)
2g.232534282A>GCA431952441CHRNDc.1311A>G (p.Pro437=)
c.*493A>G (n.*493A>G)
c.*952A>G (n.*952A>G)
c.1266A>G (p.Pro422=)
c.729A>G (p.Pro243=)
c.1008A>G (p.Pro336=)
c.-4294966240A>G
c.-4294965961A>G
c.930A>G (p.Pro310=)
2g.232534282A>TCA431952440CHRNDc.1311A>T (p.Pro437=)
c.*493A>T (n.*493A>T)
c.*952A>T (n.*952A>T)
c.1266A>T (p.Pro422=)
c.729A>T (p.Pro243=)
c.1008A>T (p.Pro336=)
c.-4294966240A>T
c.-4294965961A>T
c.930A>T (p.Pro310=)
2g.232534283G>ACA351005652CHRNDc.1312G>A (p.Ala438Thr)
c.*494G>A (n.*494G>A)
c.*953G>A (n.*953G>A)
c.1267G>A (p.Ala423Thr)
c.730G>A (p.Ala244Thr)
c.1009G>A (p.Ala337Thr)
c.-4294966239G>A
c.-4294965960G>A
c.931G>A (p.Ala311Thr)
2g.232534283G>CCA351005654CHRNDc.1312G>C (p.Ala438Pro)
c.*494G>C (n.*494G>C)
c.*953G>C (n.*953G>C)
c.1267G>C (p.Ala423Pro)
c.730G>C (p.Ala244Pro)
c.1009G>C (p.Ala337Pro)
c.-4294966239G>C
c.-4294965960G>C
c.931G>C (p.Ala311Pro)
2g.232534283G>TCA351005656CHRNDc.1312G>T (p.Ala438Ser)
c.*494G>T (n.*494G>T)
c.*953G>T (n.*953G>T)
c.1267G>T (p.Ala423Ser)
c.730G>T (p.Ala244Ser)
c.1009G>T (p.Ala337Ser)
c.-4294966239G>T
c.-4294965960G>T
c.931G>T (p.Ala311Ser)
2g.232534284C>ACA351005659CHRNDc.1313C>A (p.Ala438Asp)
c.*495C>A (n.*495C>A)
c.*954C>A (n.*954C>A)
c.1268C>A (p.Ala423Asp)
c.731C>A (p.Ala244Asp)
c.1010C>A (p.Ala337Asp)
c.-4294966238C>A
c.-4294965959C>A
c.932C>A (p.Ala311Asp)
2g.232534284C>GCA351005660CHRNDc.1313C>G (p.Ala438Gly)
c.*495C>G (n.*495C>G)
c.*954C>G (n.*954C>G)
c.1268C>G (p.Ala423Gly)
c.731C>G (p.Ala244Gly)
c.1010C>G (p.Ala337Gly)
c.-4294966238C>G
c.-4294965959C>G
c.932C>G (p.Ala311Gly)
2g.232534284C>TCA351005657CHRNDc.1313C>T (p.Ala438Val)
c.*495C>T (n.*495C>T)
c.*954C>T (n.*954C>T)
c.1268C>T (p.Ala423Val)
c.731C>T (p.Ala244Val)
c.1010C>T (p.Ala337Val)
c.-4294966238C>T
c.-4294965959C>T
c.932C>T (p.Ala311Val)
2g.232534285T>ACA431952444CHRNDc.1314T>A (p.Ala438=)
c.*496T>A (n.*496T>A)
c.*955T>A (n.*955T>A)
c.1269T>A (p.Ala423=)
c.732T>A (p.Ala244=)
c.1011T>A (p.Ala337=)
c.-4294966237T>A
c.-4294965958T>A
c.933T>A (p.Ala311=)
2g.232534285T>CCA66957686CHRNDc.1314T>C (p.Ala438=)
c.*496T>C (n.*496T>C)
c.*955T>C (n.*955T>C)
c.1269T>C (p.Ala423=)
c.732T>C (p.Ala244=)
c.1011T>C (p.Ala337=)
c.-4294966237T>C
c.-4294965958T>C
c.933T>C (p.Ala311=)
dbSNP
2g.232534285T>GCA431952445CHRNDc.1314T>G (p.Ala438=)
c.*496T>G (n.*496T>G)
c.*955T>G (n.*955T>G)
c.1269T>G (p.Ala423=)
c.732T>G (p.Ala244=)
c.1011T>G (p.Ala337=)
c.-4294966237T>G
c.-4294965958T>G
c.933T>G (p.Ala311=)
2g.232534285T=CA1335314093CHRNDc.1314T= (p.Ala438=)
c.*496T= (n.*496T=)
c.*955T= (n.*955T=)
c.1269T= (p.Ala423=)
c.732T= (p.Ala244=)
c.1011T= (p.Ala337=)
c.-4294966237T=
c.-4294965958T=
c.933T= (p.Ala311=)
2g.232534286delCA2586971733CHRNDc.1315del (p.Val439TrpfsTer11)
c.*497del (n.*497del)
c.*956del (n.*956del)
c.1270del (p.Val424TrpfsTer11)
c.733del (p.Val245TrpfsTer11)
c.1012del (p.Val338TrpfsTer11)
c.-4294966236del
c.-4294965957del
c.934del (p.Val312TrpfsTer11)
gnomAD v4
2g.232534286G>ACA351005663CHRNDc.1315G>A (p.Val439Met)
c.*497G>A (n.*497G>A)
c.*956G>A (n.*956G>A)
c.1270G>A (p.Val424Met)
c.733G>A (p.Val245Met)
c.1012G>A (p.Val338Met)
c.-4294966236G>A
c.-4294965957G>A
c.934G>A (p.Val312Met)
dbSNP gnomAD v4
2g.232534286G>CCA351005667CHRNDc.1315G>C (p.Val439Leu)
c.*497G>C (n.*497G>C)
c.*956G>C (n.*956G>C)
c.1270G>C (p.Val424Leu)
c.733G>C (p.Val245Leu)
c.1012G>C (p.Val338Leu)
c.-4294966236G>C
c.-4294965957G>C
c.934G>C (p.Val312Leu)
2g.232534286G=CA1335314094CHRNDc.1315G= (p.Val439=)
c.*497G= (n.*497G=)
c.*956G= (n.*956G=)
c.1270G= (p.Val424=)
c.733G= (p.Val245=)
c.1012G= (p.Val338=)
c.-4294966236G=
c.-4294965957G=
c.934G= (p.Val312=)
2g.232534286G>TCA351005665CHRNDc.1315G>T (p.Val439Leu)
c.*497G>T (n.*497G>T)
c.*956G>T (n.*956G>T)
c.1270G>T (p.Val424Leu)
c.733G>T (p.Val245Leu)
c.1012G>T (p.Val338Leu)
c.-4294966236G>T
c.-4294965957G>T
c.934G>T (p.Val312Leu)
2g.232534287T>ACA351005669CHRNDc.1316T>A (p.Val439Glu)
c.*498T>A (n.*498T>A)
c.*957T>A (n.*957T>A)
c.1271T>A (p.Val424Glu)
c.734T>A (p.Val245Glu)
c.1013T>A (p.Val338Glu)
c.-4294966235T>A
c.-4294965956T>A
c.935T>A (p.Val312Glu)
2g.232534287T>CCA351005673CHRNDc.1316T>C (p.Val439Ala)
c.*498T>C (n.*498T>C)
c.*957T>C (n.*957T>C)
c.1271T>C (p.Val424Ala)
c.734T>C (p.Val245Ala)
c.1013T>C (p.Val338Ala)
c.-4294966235T>C
c.-4294965956T>C
c.935T>C (p.Val312Ala)
2g.232534287T>GCA351005671CHRNDc.1316T>G (p.Val439Gly)
c.*498T>G (n.*498T>G)
c.*957T>G (n.*957T>G)
c.1271T>G (p.Val424Gly)
c.734T>G (p.Val245Gly)
c.1013T>G (p.Val338Gly)
c.-4294966235T>G
c.-4294965956T>G
c.935T>G (p.Val312Gly)
2g.232534288G>ACA431952447CHRNDc.1317G>A (p.Val439=)
c.*499G>A (n.*499G>A)
c.*958G>A (n.*958G>A)
c.1272G>A (p.Val424=)
c.735G>A (p.Val245=)
c.1014G>A (p.Val338=)
c.-4294966234G>A
c.-4294965955G>A
c.936G>A (p.Val312=)
COSMIC
2g.232534288G>CCA431952448CHRNDc.1317G>C (p.Val439=)
c.*499G>C (n.*499G>C)
c.*958G>C (n.*958G>C)
c.1272G>C (p.Val424=)
c.735G>C (p.Val245=)
c.1014G>C (p.Val338=)
c.-4294966234G>C
c.-4294965955G>C
c.936G>C (p.Val312=)
2g.232534288G>TCA431952449CHRNDc.1317G>T (p.Val439=)
c.*499G>T (n.*499G>T)
c.*958G>T (n.*958G>T)
c.1272G>T (p.Val424=)
c.735G>T (p.Val245=)
c.1014G>T (p.Val338=)
c.-4294966234G>T
c.-4294965955G>T
c.936G>T (p.Val312=)
2g.232534289G>ACA351005674CHRNDc.1318G>A (p.Asp440Asn)
c.*500G>A (n.*500G>A)
c.*959G>A (n.*959G>A)
c.1273G>A (p.Asp425Asn)
c.736G>A (p.Asp246Asn)
c.1015G>A (p.Asp339Asn)
c.-4294966233G>A
c.-4294965954G>A
c.937G>A (p.Asp313Asn)
2g.232534289G>CCA351005676CHRNDc.1318G>C (p.Asp440His)
c.*500G>C (n.*500G>C)
c.*959G>C (n.*959G>C)
c.1273G>C (p.Asp425His)
c.736G>C (p.Asp246His)
c.1015G>C (p.Asp339His)
c.-4294966233G>C
c.-4294965954G>C
c.937G>C (p.Asp313His)
dbSNP
2g.232534289G=CA1335314095CHRNDc.1318G= (p.Asp440=)
c.*500G= (n.*500G=)
c.*959G= (n.*959G=)
c.1273G= (p.Asp425=)
c.736G= (p.Asp246=)
c.1015G= (p.Asp339=)
c.-4294966233G=
c.-4294965954G=
c.937G= (p.Asp313=)
2g.232534289G>TCA351005678CHRNDc.1318G>T (p.Asp440Tyr)
c.*500G>T (n.*500G>T)
c.*959G>T (n.*959G>T)
c.1273G>T (p.Asp425Tyr)
c.736G>T (p.Asp246Tyr)
c.1015G>T (p.Asp339Tyr)
c.-4294966233G>T
c.-4294965954G>T
c.937G>T (p.Asp313Tyr)
2g.232534290A=CA1335314096CHRNDc.1319A= (p.Asp440=)
c.*501A= (n.*501A=)
c.*960A= (n.*960A=)
c.1274A= (p.Asp425=)
c.737A= (p.Asp246=)
c.1016A= (p.Asp339=)
c.-4294966232A=
c.-4294965953A=
c.938A= (p.Asp313=)
2g.232534290A>CCA351005680CHRNDc.1319A>C (p.Asp440Ala)
c.*501A>C (n.*501A>C)
c.*960A>C (n.*960A>C)
c.1274A>C (p.Asp425Ala)
c.737A>C (p.Asp246Ala)
c.1016A>C (p.Asp339Ala)
c.-4294966232A>C
c.-4294965953A>C
c.938A>C (p.Asp313Ala)
2g.232534290A>GCA355015CHRNDc.1319A>G (p.Asp440Gly)
c.*501A>G (n.*501A>G)
c.*960A>G (n.*960A>G)
c.1274A>G (p.Asp425Gly)
c.737A>G (p.Asp246Gly)
c.1016A>G (p.Asp339Gly)
c.-4294966232A>G
c.-4294965953A>G
c.938A>G (p.Asp313Gly)
dbSNP
2g.232534290A>TCA2168322CHRNDc.1319A>T (p.Asp440Val)
c.*501A>T (n.*501A>T)
c.*960A>T (n.*960A>T)
c.1274A>T (p.Asp425Val)
c.737A>T (p.Asp246Val)
c.1016A>T (p.Asp339Val)
c.-4294966232A>T
c.-4294965953A>T
c.938A>T (p.Asp313Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534291T>ACA351005682CHRNDc.1320T>A (p.Asp440Glu)
c.*502T>A (n.*502T>A)
c.*961T>A (n.*961T>A)
c.1275T>A (p.Asp425Glu)
c.738T>A (p.Asp246Glu)
c.1017T>A (p.Asp339Glu)
c.-4294966231T>A
c.-4294965952T>A
c.939T>A (p.Asp313Glu)
2g.232534291T>CCA431952453CHRNDc.1320T>C (p.Asp440=)
c.*502T>C (n.*502T>C)
c.*961T>C (n.*961T>C)
c.1275T>C (p.Asp425=)
c.738T>C (p.Asp246=)
c.1017T>C (p.Asp339=)
c.-4294966231T>C
c.-4294965952T>C
c.939T>C (p.Asp313=)
2g.232534291T>GCA351005684CHRNDc.1320T>G (p.Asp440Glu)
c.*502T>G (n.*502T>G)
c.*961T>G (n.*961T>G)
c.1275T>G (p.Asp425Glu)
c.738T>G (p.Asp246Glu)
c.1017T>G (p.Asp339Glu)
c.-4294966231T>G
c.-4294965952T>G
c.939T>G (p.Asp313Glu)
2g.232534292G>ACA351005687CHRNDc.1321G>A (p.Gly441Arg)
c.*503G>A (n.*503G>A)
c.*962G>A (n.*962G>A)
c.1276G>A (p.Gly426Arg)
c.739G>A (p.Gly247Arg)
c.1018G>A (p.Gly340Arg)
c.-4294966230G>A
c.-4294965951G>A
c.940G>A (p.Gly314Arg)
2g.232534292G>CCA351005688CHRNDc.1321G>C (p.Gly441Arg)
c.*503G>C (n.*503G>C)
c.*962G>C (n.*962G>C)
c.1276G>C (p.Gly426Arg)
c.739G>C (p.Gly247Arg)
c.1018G>C (p.Gly340Arg)
c.-4294966230G>C
c.-4294965951G>C
c.940G>C (p.Gly314Arg)
2g.232534292G>TCA351005690CHRNDc.1321G>T (p.Gly441Trp)
c.*503G>T (n.*503G>T)
c.*962G>T (n.*962G>T)
c.1276G>T (p.Gly426Trp)
c.739G>T (p.Gly247Trp)
c.1018G>T (p.Gly340Trp)
c.-4294966230G>T
c.-4294965951G>T
c.940G>T (p.Gly314Trp)
2g.232534293G>ACA351005697CHRNDc.1322G>A (p.Gly441Glu)
c.*504G>A (n.*504G>A)
c.*963G>A (n.*963G>A)
c.1277G>A (p.Gly426Glu)
c.740G>A (p.Gly247Glu)
c.1019G>A (p.Gly340Glu)
c.-4294966229G>A
c.-4294965950G>A
c.941G>A (p.Gly314Glu)
gnomAD v4
2g.232534293G>CCA351005695CHRNDc.1322G>C (p.Gly441Ala)
c.*504G>C (n.*504G>C)
c.*963G>C (n.*963G>C)
c.1277G>C (p.Gly426Ala)
c.740G>C (p.Gly247Ala)
c.1019G>C (p.Gly340Ala)
c.-4294966229G>C
c.-4294965950G>C
c.941G>C (p.Gly314Ala)
2g.232534293G>TCA351005693CHRNDc.1322G>T (p.Gly441Val)
c.*504G>T (n.*504G>T)
c.*963G>T (n.*963G>T)
c.1277G>T (p.Gly426Val)
c.740G>T (p.Gly247Val)
c.1019G>T (p.Gly340Val)
c.-4294966229G>T
c.-4294965950G>T
c.941G>T (p.Gly314Val)
2g.232534294G>ACA431952458CHRNDc.1323G>A (p.Gly441=)
c.*505G>A (n.*505G>A)
c.*964G>A (n.*964G>A)
c.1278G>A (p.Gly426=)
c.741G>A (p.Gly247=)
c.1020G>A (p.Gly340=)
c.-4294966228G>A
c.-4294965949G>A
c.942G>A (p.Gly314=)
COSMIC
2g.232534294G>CCA431952459CHRNDc.1323G>C (p.Gly441=)
c.*505G>C (n.*505G>C)
c.*964G>C (n.*964G>C)
c.1278G>C (p.Gly426=)
c.741G>C (p.Gly247=)
c.1020G>C (p.Gly340=)
c.-4294966228G>C
c.-4294965949G>C
c.942G>C (p.Gly314=)
2g.232534294G>TCA431952460CHRNDc.1323G>T (p.Gly441=)
c.*505G>T (n.*505G>T)
c.*964G>T (n.*964G>T)
c.1278G>T (p.Gly426=)
c.741G>T (p.Gly247=)
c.1020G>T (p.Gly340=)
c.-4294966228G>T
c.-4294965949G>T
c.942G>T (p.Gly314=)
2g.232534295G>ACA351005700CHRNDc.1324G>A (p.Ala442Thr)
c.*506G>A (n.*506G>A)
c.*965G>A (n.*965G>A)
c.1279G>A (p.Ala427Thr)
c.742G>A (p.Ala248Thr)
c.1021G>A (p.Ala341Thr)
c.-4294966227G>A
c.-4294965948G>A
c.943G>A (p.Ala315Thr)
2g.232534295G>CCA351005701CHRNDc.1324G>C (p.Ala442Pro)
c.*506G>C (n.*506G>C)
c.*965G>C (n.*965G>C)
c.1279G>C (p.Ala427Pro)
c.742G>C (p.Ala248Pro)
c.1021G>C (p.Ala341Pro)
c.-4294966227G>C
c.-4294965948G>C
c.943G>C (p.Ala315Pro)
2g.232534295G=CA1335314097CHRNDc.1324G= (p.Ala442=)
c.*506G= (n.*506G=)
c.*965G= (n.*965G=)
c.1279G= (p.Ala427=)
c.742G= (p.Ala248=)
c.1021G= (p.Ala341=)
c.-4294966227G=
c.-4294965948G=
c.943G= (p.Ala315=)
2g.232534295G>TCA351005703CHRNDc.1324G>T (p.Ala442Ser)
c.*506G>T (n.*506G>T)
c.*965G>T (n.*965G>T)
c.1279G>T (p.Ala427Ser)
c.742G>T (p.Ala248Ser)
c.1021G>T (p.Ala341Ser)
c.-4294966227G>T
c.-4294965948G>T
c.943G>T (p.Ala315Ser)
dbSNP gnomAD v2 gnomAD v4
2g.232534296C>ACA351005705CHRNDc.1325C>A (p.Ala442Glu)
c.*507C>A (n.*507C>A)
c.*966C>A (n.*966C>A)
c.1280C>A (p.Ala427Glu)
c.743C>A (p.Ala248Glu)
c.1022C>A (p.Ala341Glu)
c.-4294966226C>A
c.-4294965947C>A
c.944C>A (p.Ala315Glu)
2g.232534296C>GCA351005706CHRNDc.1325C>G (p.Ala442Gly)
c.*507C>G (n.*507C>G)
c.*966C>G (n.*966C>G)
c.1280C>G (p.Ala427Gly)
c.743C>G (p.Ala248Gly)
c.1022C>G (p.Ala341Gly)
c.-4294966226C>G
c.-4294965947C>G
c.944C>G (p.Ala315Gly)
2g.232534296C>TCA351005708CHRNDc.1325C>T (p.Ala442Val)
c.*507C>T (n.*507C>T)
c.*966C>T (n.*966C>T)
c.1280C>T (p.Ala427Val)
c.743C>T (p.Ala248Val)
c.1022C>T (p.Ala341Val)
c.-4294966226C>T
c.-4294965947C>T
c.944C>T (p.Ala315Val)
ClinVar
2g.232534297A>CCA431952462CHRNDc.1326A>C (p.Ala442=)
c.*508A>C (n.*508A>C)
c.*967A>C (n.*967A>C)
c.1281A>C (p.Ala427=)
c.744A>C (p.Ala248=)
c.1023A>C (p.Ala341=)
c.-4294966225A>C
c.-4294965946A>C
c.945A>C (p.Ala315=)
2g.232534297A>GCA431952463CHRNDc.1326A>G (p.Ala442=)
c.*508A>G (n.*508A>G)
c.*967A>G (n.*967A>G)
c.1281A>G (p.Ala427=)
c.744A>G (p.Ala248=)
c.1023A>G (p.Ala341=)
c.-4294966225A>G
c.-4294965946A>G
c.945A>G (p.Ala315=)
2g.232534297A>TCA431952464CHRNDc.1326A>T (p.Ala442=)
c.*508A>T (n.*508A>T)
c.*967A>T (n.*967A>T)
c.1281A>T (p.Ala427=)
c.744A>T (p.Ala248=)
c.1023A>T (p.Ala341=)
c.-4294966225A>T
c.-4294965946A>T
c.945A>T (p.Ala315=)
2g.232534298A>CCA351005711CHRNDc.1327A>C (p.Asn443His)
c.*509A>C (n.*509A>C)
c.*968A>C (n.*968A>C)
c.1282A>C (p.Asn428His)
c.745A>C (p.Asn249His)
c.1024A>C (p.Asn342His)
c.-4294966224A>C
c.-4294965945A>C
c.946A>C (p.Asn316His)
2g.232534298A>GCA351005713CHRNDc.1327A>G (p.Asn443Asp)
c.*509A>G (n.*509A>G)
c.*968A>G (n.*968A>G)
c.1282A>G (p.Asn428Asp)
c.745A>G (p.Asn249Asp)
c.1024A>G (p.Asn342Asp)
c.-4294966224A>G
c.-4294965945A>G
c.946A>G (p.Asn316Asp)
2g.232534298A>TCA351005714CHRNDc.1327A>T (p.Asn443Tyr)
c.*509A>T (n.*509A>T)
c.*968A>T (n.*968A>T)
c.1282A>T (p.Asn428Tyr)
c.745A>T (p.Asn249Tyr)
c.1024A>T (p.Asn342Tyr)
c.-4294966224A>T
c.-4294965945A>T
c.946A>T (p.Asn316Tyr)
2g.232534299A>CCA351005717CHRNDc.1328A>C (p.Asn443Thr)
c.*510A>C (n.*510A>C)
c.*969A>C (n.*969A>C)
c.1283A>C (p.Asn428Thr)
c.746A>C (p.Asn249Thr)
c.1025A>C (p.Asn342Thr)
c.-4294966223A>C
c.-4294965944A>C
c.947A>C (p.Asn316Thr)
2g.232534299A>GCA351005718CHRNDc.1328A>G (p.Asn443Ser)
c.*510A>G (n.*510A>G)
c.*969A>G (n.*969A>G)
c.1283A>G (p.Asn428Ser)
c.746A>G (p.Asn249Ser)
c.1025A>G (p.Asn342Ser)
c.-4294966223A>G
c.-4294965944A>G
c.947A>G (p.Asn316Ser)
ClinVar dbSNP
2g.232534299A>TCA351005721CHRNDc.1328A>T (p.Asn443Ile)
c.*510A>T (n.*510A>T)
c.*969A>T (n.*969A>T)
c.1283A>T (p.Asn428Ile)
c.746A>T (p.Asn249Ile)
c.1025A>T (p.Asn342Ile)
c.-4294966223A>T
c.-4294965944A>T
c.947A>T (p.Asn316Ile)
2g.232534300C>ACA351005725CHRNDc.1329C>A (p.Asn443Lys)
c.*511C>A (n.*511C>A)
c.*970C>A (n.*970C>A)
c.1284C>A (p.Asn428Lys)
c.747C>A (p.Asn249Lys)
c.1026C>A (p.Asn342Lys)
c.-4294966222C>A
c.-4294965943C>A
c.948C>A (p.Asn316Lys)
2g.232534300C>GCA351005723CHRNDc.1329C>G (p.Asn443Lys)
c.*511C>G (n.*511C>G)
c.*970C>G (n.*970C>G)
c.1284C>G (p.Asn428Lys)
c.747C>G (p.Asn249Lys)
c.1026C>G (p.Asn342Lys)
c.-4294966222C>G
c.-4294965943C>G
c.948C>G (p.Asn316Lys)
2g.232534300C>TCA431952465CHRNDc.1329C>T (p.Asn443=)
c.*511C>T (n.*511C>T)
c.*970C>T (n.*970C>T)
c.1284C>T (p.Asn428=)
c.747C>T (p.Asn249=)
c.1026C>T (p.Asn342=)
c.-4294966222C>T
c.-4294965943C>T
c.948C>T (p.Asn316=)
2g.232534301T>ACA351005728CHRNDc.1330T>A (p.Phe444Ile)
c.*512T>A (n.*512T>A)
c.*971T>A (n.*971T>A)
c.1285T>A (p.Phe429Ile)
c.748T>A (p.Phe250Ile)
c.1027T>A (p.Phe343Ile)
c.-4294966221T>A
c.-4294965942T>A
c.949T>A (p.Phe317Ile)
2g.232534301T>CCA2168323CHRNDc.1330T>C (p.Phe444Leu)
c.*512T>C (n.*512T>C)
c.*971T>C (n.*971T>C)
c.1285T>C (p.Phe429Leu)
c.748T>C (p.Phe250Leu)
c.1027T>C (p.Phe343Leu)
c.-4294966221T>C
c.-4294965942T>C
c.949T>C (p.Phe317Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.232534301T>GCA351005731CHRNDc.1330T>G (p.Phe444Val)
c.*512T>G (n.*512T>G)
c.*971T>G (n.*971T>G)
c.1285T>G (p.Phe429Val)
c.748T>G (p.Phe250Val)
c.1027T>G (p.Phe343Val)
c.-4294966221T>G
c.-4294965942T>G
c.949T>G (p.Phe317Val)
gnomAD v4
2g.232534301T=CA1335314098CHRNDc.1330T= (p.Phe444=)
c.*512T= (n.*512T=)
c.*971T= (n.*971T=)
c.1285T= (p.Phe429=)
c.748T= (p.Phe250=)
c.1027T= (p.Phe343=)
c.-4294966221T=
c.-4294965942T=
c.949T= (p.Phe317=)
2g.232534302T>ACA351005733CHRNDc.1331T>A (p.Phe444Tyr)
c.*513T>A (n.*513T>A)
c.*972T>A (n.*972T>A)
c.1286T>A (p.Phe429Tyr)
c.749T>A (p.Phe250Tyr)
c.1028T>A (p.Phe343Tyr)
c.-4294966220T>A
c.-4294965941T>A
c.950T>A (p.Phe317Tyr)
2g.232534302T>CCA351005734CHRNDc.1331T>C (p.Phe444Ser)
c.*513T>C (n.*513T>C)
c.*972T>C (n.*972T>C)
c.1286T>C (p.Phe429Ser)
c.749T>C (p.Phe250Ser)
c.1028T>C (p.Phe343Ser)
c.-4294966220T>C
c.-4294965941T>C
c.950T>C (p.Phe317Ser)
2g.232534302T>GCA351005736CHRNDc.1331T>G (p.Phe444Cys)
c.*513T>G (n.*513T>G)
c.*972T>G (n.*972T>G)
c.1286T>G (p.Phe429Cys)
c.749T>G (p.Phe250Cys)
c.1028T>G (p.Phe343Cys)
c.-4294966220T>G
c.-4294965941T>G
c.950T>G (p.Phe317Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232534302T=CA1335314099CHRNDc.1331T= (p.Phe444=)
c.*513T= (n.*513T=)
c.*972T= (n.*972T=)
c.1286T= (p.Phe429=)
c.749T= (p.Phe250=)
c.1028T= (p.Phe343=)
c.-4294966220T=
c.-4294965941T=
c.950T= (p.Phe317=)
2g.232534303C>ACA351005738CHRNDc.1332C>A (p.Phe444Leu)
c.*514C>A (n.*514C>A)
c.*973C>A (n.*973C>A)
c.1287C>A (p.Phe429Leu)
c.750C>A (p.Phe250Leu)
c.1029C>A (p.Phe343Leu)
c.-4294966219C>A
c.-4294965940C>A
c.951C>A (p.Phe317Leu)
2g.232534303C>GCA351005743CHRNDc.1332C>G (p.Phe444Leu)
c.*514C>G (n.*514C>G)
c.*973C>G (n.*973C>G)
c.1287C>G (p.Phe429Leu)
c.750C>G (p.Phe250Leu)
c.1029C>G (p.Phe343Leu)
c.-4294966219C>G
c.-4294965940C>G
c.951C>G (p.Phe317Leu)
2g.232534303C>TCA431952469CHRNDc.1332C>T (p.Phe444=)
c.*514C>T (n.*514C>T)
c.*973C>T (n.*973C>T)
c.1287C>T (p.Phe429=)
c.750C>T (p.Phe250=)
c.1029C>T (p.Phe343=)
c.-4294966219C>T
c.-4294965940C>T
c.951C>T (p.Phe317=)
2g.232534304A>CCA351005746CHRNDc.1333A>C (p.Ile445Leu)
c.*515A>C (n.*515A>C)
c.*974A>C (n.*974A>C)
c.1288A>C (p.Ile430Leu)
c.751A>C (p.Ile251Leu)
c.1030A>C (p.Ile344Leu)
c.-4294966218A>C
c.-4294965939A>C
c.952A>C (p.Ile318Leu)
2g.232534304A>GCA351005749CHRNDc.1333A>G (p.Ile445Val)
c.*515A>G (n.*515A>G)
c.*974A>G (n.*974A>G)
c.1288A>G (p.Ile430Val)
c.751A>G (p.Ile251Val)
c.1030A>G (p.Ile344Val)
c.-4294966218A>G
c.-4294965939A>G
c.952A>G (p.Ile318Val)
gnomAD v4
2g.232534304A>TCA351005748CHRNDc.1333A>T (p.Ile445Phe)
c.*515A>T (n.*515A>T)
c.*974A>T (n.*974A>T)
c.1288A>T (p.Ile430Phe)
c.751A>T (p.Ile251Phe)
c.1030A>T (p.Ile344Phe)
c.-4294966218A>T
c.-4294965939A>T
c.952A>T (p.Ile318Phe)
2g.232534305T>ACA351005752CHRNDc.1334T>A (p.Ile445Asn)
c.*516T>A (n.*516T>A)
c.*975T>A (n.*975T>A)
c.1289T>A (p.Ile430Asn)
c.752T>A (p.Ile251Asn)
c.1031T>A (p.Ile344Asn)
c.-4294966217T>A
c.-4294965938T>A
c.953T>A (p.Ile318Asn)
2g.232534305T>CCA2168324CHRNDc.1334T>C (p.Ile445Thr)
c.*516T>C (n.*516T>C)
c.*975T>C (n.*975T>C)
c.1289T>C (p.Ile430Thr)
c.752T>C (p.Ile251Thr)
c.1031T>C (p.Ile344Thr)
c.-4294966217T>C
c.-4294965938T>C
c.953T>C (p.Ile318Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534305T>GCA351005755CHRNDc.1334T>G (p.Ile445Ser)
c.*516T>G (n.*516T>G)
c.*975T>G (n.*975T>G)
c.1289T>G (p.Ile430Ser)
c.752T>G (p.Ile251Ser)
c.1031T>G (p.Ile344Ser)
c.-4294966217T>G
c.-4294965938T>G
c.953T>G (p.Ile318Ser)
2g.232534305T=CA1335314100CHRNDc.1334T= (p.Ile445=)
c.*516T= (n.*516T=)
c.*975T= (n.*975T=)
c.1289T= (p.Ile430=)
c.752T= (p.Ile251=)
c.1031T= (p.Ile344=)
c.-4294966217T=
c.-4294965938T=
c.953T= (p.Ile318=)
2g.232534306T>ACA431952474CHRNDc.1335T>A (p.Ile445=)
c.*517T>A (n.*517T>A)
c.*976T>A (n.*976T>A)
c.1290T>A (p.Ile430=)
c.753T>A (p.Ile251=)
c.1032T>A (p.Ile344=)
c.-4294966216T>A
c.-4294965937T>A
c.954T>A (p.Ile318=)
2g.232534306T>CCA431952473CHRNDc.1335T>C (p.Ile445=)
c.*517T>C (n.*517T>C)
c.*976T>C (n.*976T>C)
c.1290T>C (p.Ile430=)
c.753T>C (p.Ile251=)
c.1032T>C (p.Ile344=)
c.-4294966216T>C
c.-4294965937T>C
c.954T>C (p.Ile318=)
2g.232534306T>GCA351005757CHRNDc.1335T>G (p.Ile445Met)
c.*517T>G (n.*517T>G)
c.*976T>G (n.*976T>G)
c.1290T>G (p.Ile430Met)
c.753T>G (p.Ile251Met)
c.1032T>G (p.Ile344Met)
c.-4294966216T>G
c.-4294965937T>G
c.954T>G (p.Ile318Met)
gnomAD v4
2g.232534307G>ACA351005759CHRNDc.1336G>A (p.Val446Ile)
c.*518G>A (n.*518G>A)
c.*977G>A (n.*977G>A)
c.1291G>A (p.Val431Ile)
c.754G>A (p.Val252Ile)
c.1033G>A (p.Val345Ile)
c.-4294966215G>A
c.-4294965936G>A
c.955G>A (p.Val319Ile)
2g.232534307G>CCA351005763CHRNDc.1336G>C (p.Val446Leu)
c.*518G>C (n.*518G>C)
c.*977G>C (n.*977G>C)
c.1291G>C (p.Val431Leu)
c.754G>C (p.Val252Leu)
c.1033G>C (p.Val345Leu)
c.-4294966215G>C
c.-4294965936G>C
c.955G>C (p.Val319Leu)
2g.232534307G>TCA351005761CHRNDc.1336G>T (p.Val446Phe)
c.*518G>T (n.*518G>T)
c.*977G>T (n.*977G>T)
c.1291G>T (p.Val431Phe)
c.754G>T (p.Val252Phe)
c.1033G>T (p.Val345Phe)
c.-4294966215G>T
c.-4294965936G>T
c.955G>T (p.Val319Phe)
2g.232534308T>ACA351005766CHRNDc.1337T>A (p.Val446Asp)
c.*519T>A (n.*519T>A)
c.*978T>A (n.*978T>A)
c.1292T>A (p.Val431Asp)
c.755T>A (p.Val252Asp)
c.1034T>A (p.Val345Asp)
c.-4294966214T>A
c.-4294965935T>A
c.956T>A (p.Val319Asp)
2g.232534308T>CCA351005767CHRNDc.1337T>C (p.Val446Ala)
c.*519T>C (n.*519T>C)
c.*978T>C (n.*978T>C)
c.1292T>C (p.Val431Ala)
c.755T>C (p.Val252Ala)
c.1034T>C (p.Val345Ala)
c.-4294966214T>C
c.-4294965935T>C
c.956T>C (p.Val319Ala)
2g.232534308T>GCA351005769CHRNDc.1337T>G (p.Val446Gly)
c.*519T>G (n.*519T>G)
c.*978T>G (n.*978T>G)
c.1292T>G (p.Val431Gly)
c.755T>G (p.Val252Gly)
c.1034T>G (p.Val345Gly)
c.-4294966214T>G
c.-4294965935T>G
c.956T>G (p.Val319Gly)
2g.232534309T>ACA431952477CHRNDc.1338T>A (p.Val446=)
c.*520T>A (n.*520T>A)
c.*979T>A (n.*979T>A)
c.1293T>A (p.Val431=)
c.756T>A (p.Val252=)
c.1035T>A (p.Val345=)
c.-4294966213T>A
c.-4294965934T>A
c.957T>A (p.Val319=)
2g.232534309T>CCA431952480CHRNDc.1338T>C (p.Val446=)
c.*520T>C (n.*520T>C)
c.*979T>C (n.*979T>C)
c.1293T>C (p.Val431=)
c.756T>C (p.Val252=)
c.1035T>C (p.Val345=)
c.-4294966213T>C
c.-4294965934T>C
c.957T>C (p.Val319=)
2g.232534309T>GCA431952479CHRNDc.1338T>G (p.Val446=)
c.*520T>G (n.*520T>G)
c.*979T>G (n.*979T>G)
c.1293T>G (p.Val431=)
c.756T>G (p.Val252=)
c.1035T>G (p.Val345=)
c.-4294966213T>G
c.-4294965934T>G
c.957T>G (p.Val319=)
2g.232534310A=CA1335314101CHRNDc.1339A= (p.Asn447=)
c.*521A= (n.*521A=)
c.*980A= (n.*980A=)
c.1294A= (p.Asn432=)
c.757A= (p.Asn253=)
c.1036A= (p.Asn346=)
c.-4294966212A=
c.-4294965933A=
c.958A= (p.Asn320=)
2g.232534310A>CCA2168325CHRNDc.1339A>C (p.Asn447His)
c.*521A>C (n.*521A>C)
c.*980A>C (n.*980A>C)
c.1294A>C (p.Asn432His)
c.757A>C (p.Asn253His)
c.1036A>C (p.Asn346His)
c.-4294966212A>C
c.-4294965933A>C
c.958A>C (p.Asn320His)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.232534310A>GCA351005772CHRNDc.1339A>G (p.Asn447Asp)
c.*521A>G (n.*521A>G)
c.*980A>G (n.*980A>G)
c.1294A>G (p.Asn432Asp)
c.757A>G (p.Asn253Asp)
c.1036A>G (p.Asn346Asp)
c.-4294966212A>G
c.-4294965933A>G
c.958A>G (p.Asn320Asp)
2g.232534310A>TCA351005774CHRNDc.1339A>T (p.Asn447Tyr)
c.*521A>T (n.*521A>T)
c.*980A>T (n.*980A>T)
c.1294A>T (p.Asn432Tyr)
c.757A>T (p.Asn253Tyr)
c.1036A>T (p.Asn346Tyr)
c.-4294966212A>T
c.-4294965933A>T
c.958A>T (p.Asn320Tyr)
2g.232534311A>CCA351005777CHRNDc.1340A>C (p.Asn447Thr)
c.*522A>C (n.*522A>C)
c.*981A>C (n.*981A>C)
c.1295A>C (p.Asn432Thr)
c.758A>C (p.Asn253Thr)
c.1037A>C (p.Asn346Thr)
c.-4294966211A>C
c.-4294965932A>C
c.959A>C (p.Asn320Thr)
2g.232534311A>GCA351005778CHRNDc.1340A>G (p.Asn447Ser)
c.*522A>G (n.*522A>G)
c.*981A>G (n.*981A>G)
c.1295A>G (p.Asn432Ser)
c.758A>G (p.Asn253Ser)
c.1037A>G (p.Asn346Ser)
c.-4294966211A>G
c.-4294965932A>G
c.959A>G (p.Asn320Ser)
2g.232534311A>TCA351005780CHRNDc.1340A>T (p.Asn447Ile)
c.*522A>T (n.*522A>T)
c.*981A>T (n.*981A>T)
c.1295A>T (p.Asn432Ile)
c.758A>T (p.Asn253Ile)
c.1037A>T (p.Asn346Ile)
c.-4294966211A>T
c.-4294965932A>T
c.959A>T (p.Asn320Ile)
2g.232534312C>ACA351005786CHRNDc.1341C>A (p.Asn447Lys)
c.*523C>A (n.*523C>A)
c.*982C>A (n.*982C>A)
c.1296C>A (p.Asn432Lys)
c.759C>A (p.Asn253Lys)
c.1038C>A (p.Asn346Lys)
c.-4294966210C>A
c.-4294965931C>A
c.960C>A (p.Asn320Lys)
gnomAD v4 COSMIC
2g.232534312C>GCA351005788CHRNDc.1341C>G (p.Asn447Lys)
c.*523C>G (n.*523C>G)
c.*982C>G (n.*982C>G)
c.1296C>G (p.Asn432Lys)
c.759C>G (p.Asn253Lys)
c.1038C>G (p.Asn346Lys)
c.-4294966210C>G
c.-4294965931C>G
c.960C>G (p.Asn320Lys)
2g.232534312C>TCA431952484CHRNDc.1341C>T (p.Asn447=)
c.*523C>T (n.*523C>T)
c.*982C>T (n.*982C>T)
c.1296C>T (p.Asn432=)
c.759C>T (p.Asn253=)
c.1038C>T (p.Asn346=)
c.-4294966210C>T
c.-4294965931C>T
c.960C>T (p.Asn320=)
gnomAD v4
2g.232534313C>ACA351005791CHRNDc.1342C>A (p.His448Asn)
c.*524C>A (n.*524C>A)
c.*983C>A (n.*983C>A)
c.1297C>A (p.His433Asn)
c.760C>A (p.His254Asn)
c.1039C>A (p.His347Asn)
c.-4294966209C>A
c.-4294965930C>A
c.961C>A (p.His321Asn)
2g.232534313C>GCA351005793CHRNDc.1342C>G (p.His448Asp)
c.*524C>G (n.*524C>G)
c.*983C>G (n.*983C>G)
c.1297C>G (p.His433Asp)
c.760C>G (p.His254Asp)
c.1039C>G (p.His347Asp)
c.-4294966209C>G
c.-4294965930C>G
c.961C>G (p.His321Asp)
2g.232534313C>TCA351005792CHRNDc.1342C>T (p.His448Tyr)
c.*524C>T (n.*524C>T)
c.*983C>T (n.*983C>T)
c.1297C>T (p.His433Tyr)
c.760C>T (p.His254Tyr)
c.1039C>T (p.His347Tyr)
c.-4294966209C>T
c.-4294965930C>T
c.961C>T (p.His321Tyr)
gnomAD v4
2g.232534314A>CCA351005794CHRNDc.1343A>C (p.His448Pro)
c.*525A>C (n.*525A>C)
c.*984A>C (n.*984A>C)
c.1298A>C (p.His433Pro)
c.761A>C (p.His254Pro)
c.1040A>C (p.His347Pro)
c.-4294966208A>C
c.-4294965929A>C
c.962A>C (p.His321Pro)
2g.232534314A>GCA351005796CHRNDc.1343A>G (p.His448Arg)
c.*525A>G (n.*525A>G)
c.*984A>G (n.*984A>G)
c.1298A>G (p.His433Arg)
c.761A>G (p.His254Arg)
c.1040A>G (p.His347Arg)
c.-4294966208A>G
c.-4294965929A>G
c.962A>G (p.His321Arg)
2g.232534314A>TCA351005795CHRNDc.1343A>T (p.His448Leu)
c.*525A>T (n.*525A>T)
c.*984A>T (n.*984A>T)
c.1298A>T (p.His433Leu)
c.761A>T (p.His254Leu)
c.1040A>T (p.His347Leu)
c.-4294966208A>T
c.-4294965929A>T
c.962A>T (p.His321Leu)
gnomAD v3 gnomAD v4
2g.232534315C>ACA351005797CHRNDc.1344C>A (p.His448Gln)
c.*526C>A (n.*526C>A)
c.*985C>A (n.*985C>A)
c.1299C>A (p.His433Gln)
c.762C>A (p.His254Gln)
c.1041C>A (p.His347Gln)
c.-4294966207C>A
c.-4294965928C>A
c.963C>A (p.His321Gln)
2g.232534315C>GCA351005798CHRNDc.1344C>G (p.His448Gln)
c.*526C>G (n.*526C>G)
c.*985C>G (n.*985C>G)
c.1299C>G (p.His433Gln)
c.762C>G (p.His254Gln)
c.1041C>G (p.His347Gln)
c.-4294966207C>G
c.-4294965928C>G
c.963C>G (p.His321Gln)
2g.232534315C>TCA431952485CHRNDc.1344C>T (p.His448=)
c.*526C>T (n.*526C>T)
c.*985C>T (n.*985C>T)
c.1299C>T (p.His433=)
c.762C>T (p.His254=)
c.1041C>T (p.His347=)
c.-4294966207C>T
c.-4294965928C>T
c.963C>T (p.His321=)
2g.232534315_232534317delinsCATCA1335314102CHRNDc.1344_1346delinsCAT (p.His448=)
c.*526_*528delinsCAT (n.*526_*528delinsCAT)
c.*985_*987delinsCAT (n.*985_*987delinsCAT)
c.1299_1301delinsCAT (p.His433=)
c.762_764delinsCAT (p.His254=)
c.1041_1043delinsCAT (p.His347=)
c.-4294966207_-4294966205delinsCAT
c.-4294965928_-4294965926delinsCAT
c.963_965delinsCAT (p.His321=)
2g.232534316A>CCA351005799CHRNDc.1345A>C (p.Met449Leu)
c.*527A>C (n.*527A>C)
c.*986A>C (n.*986A>C)
c.1300A>C (p.Met434Leu)
c.763A>C (p.Met255Leu)
c.1042A>C (p.Met348Leu)
c.-4294966206A>C
c.-4294965927A>C
c.964A>C (p.Met322Leu)
2g.232534316A>GCA351005800CHRNDc.1345A>G (p.Met449Val)
c.*527A>G (n.*527A>G)
c.*986A>G (n.*986A>G)
c.1300A>G (p.Met434Val)
c.763A>G (p.Met255Val)
c.1042A>G (p.Met348Val)
c.-4294966206A>G
c.-4294965927A>G
c.964A>G (p.Met322Val)
2g.232534316A>TCA351005801CHRNDc.1345A>T (p.Met449Leu)
c.*527A>T (n.*527A>T)
c.*986A>T (n.*986A>T)
c.1300A>T (p.Met434Leu)
c.763A>T (p.Met255Leu)
c.1042A>T (p.Met348Leu)
c.-4294966206A>T
c.-4294965927A>T
c.964A>T (p.Met322Leu)
2g.232534316_232534317delCA658796206CHRNDc.1345_1346del (p.Met449GlufsTer8)
c.*527_*528del (n.*527_*528del)
c.*986_*987del (n.*986_*987del)
c.1300_1301del (p.Met434GlufsTer8)
c.763_764del (p.Met255GlufsTer8)
c.1042_1043del (p.Met348GlufsTer8)
c.-4294966206_-4294966205del
c.-4294965927_-4294965926del
c.964_965del (p.Met322GlufsTer8)
ClinVar dbSNP
2g.232534317T>ACA351005802CHRNDc.1346T>A (p.Met449Lys)
c.*528T>A (n.*528T>A)
c.*987T>A (n.*987T>A)
c.1301T>A (p.Met434Lys)
c.764T>A (p.Met255Lys)
c.1043T>A (p.Met348Lys)
c.-4294966205T>A
c.-4294965926T>A
c.965T>A (p.Met322Lys)
2g.232534317T>CCA351005803CHRNDc.1346T>C (p.Met449Thr)
c.*528T>C (n.*528T>C)
c.*987T>C (n.*987T>C)
c.1301T>C (p.Met434Thr)
c.764T>C (p.Met255Thr)
c.1043T>C (p.Met348Thr)
c.-4294966205T>C
c.-4294965926T>C
c.965T>C (p.Met322Thr)
2g.232534317T>GCA351005804CHRNDc.1346T>G (p.Met449Arg)
c.*528T>G (n.*528T>G)
c.*987T>G (n.*987T>G)
c.1301T>G (p.Met434Arg)
c.764T>G (p.Met255Arg)
c.1043T>G (p.Met348Arg)
c.-4294966205T>G
c.-4294965926T>G
c.965T>G (p.Met322Arg)
2g.232534317dupCA2577278167CHRNDc.1346dup (p.Met449IlefsTer9)
c.*528dup (n.*528dup)
c.*987dup (n.*987dup)
c.1301dup (p.Met434IlefsTer9)
c.764dup (p.Met255IlefsTer9)
c.1043dup (p.Met348IlefsTer9)
c.-4294966205dup
c.-4294965926dup
c.965dup (p.Met322IlefsTer9)
2g.232534318G>ACA351005805CHRNDc.1347G>A (p.Met449Ile)
c.*529G>A (n.*529G>A)
c.*988G>A (n.*988G>A)
c.1302G>A (p.Met434Ile)
c.765G>A (p.Met255Ile)
c.1044G>A (p.Met348Ile)
c.-4294966204G>A
c.-4294965925G>A
c.966G>A (p.Met322Ile)
ClinVar COSMIC
2g.232534318G>CCA351005806CHRNDc.1347G>C (p.Met449Ile)
c.*529G>C (n.*529G>C)
c.*988G>C (n.*988G>C)
c.1302G>C (p.Met434Ile)
c.765G>C (p.Met255Ile)
c.1044G>C (p.Met348Ile)
c.-4294966204G>C
c.-4294965925G>C
c.966G>C (p.Met322Ile)
2g.232534318G>TCA351005807CHRNDc.1347G>T (p.Met449Ile)
c.*529G>T (n.*529G>T)
c.*988G>T (n.*988G>T)
c.1302G>T (p.Met434Ile)
c.765G>T (p.Met255Ile)
c.1044G>T (p.Met348Ile)
c.-4294966204G>T
c.-4294965925G>T
c.966G>T (p.Met322Ile)
2g.232534319A>CCA431952486CHRNDc.1348A>C (p.Arg450=)
c.*530A>C (n.*530A>C)
c.*989A>C (n.*989A>C)
c.1303A>C (p.Arg435=)
c.766A>C (p.Arg256=)
c.1045A>C (p.Arg349=)
c.-4294966203A>C
c.-4294965924A>C
c.967A>C (p.Arg323=)
2g.232534319A>GCA351005809CHRNDc.1348A>G (p.Arg450Gly)
c.*530A>G (n.*530A>G)
c.*989A>G (n.*989A>G)
c.1303A>G (p.Arg435Gly)
c.766A>G (p.Arg256Gly)
c.1045A>G (p.Arg349Gly)
c.-4294966203A>G
c.-4294965924A>G
c.967A>G (p.Arg323Gly)
2g.232534319A>TCA351005808CHRNDc.1348A>T (p.Arg450Trp)
c.*530A>T (n.*530A>T)
c.*989A>T (n.*989A>T)
c.1303A>T (p.Arg435Trp)
c.766A>T (p.Arg256Trp)
c.1045A>T (p.Arg349Trp)
c.-4294966203A>T
c.-4294965924A>T
c.967A>T (p.Arg323Trp)
2g.232534320G>ACA351005810CHRNDc.1349G>A (p.Arg450Lys)
c.*531G>A (n.*531G>A)
c.*990G>A (n.*990G>A)
c.1304G>A (p.Arg435Lys)
c.767G>A (p.Arg256Lys)
c.1046G>A (p.Arg349Lys)
c.-4294966202G>A
c.-4294965923G>A
c.968G>A (p.Arg323Lys)
dbSNP gnomAD v3 gnomAD v4
2g.232534320G>CCA351005811CHRNDc.1349G>C (p.Arg450Thr)
c.*531G>C (n.*531G>C)
c.*990G>C (n.*990G>C)
c.1304G>C (p.Arg435Thr)
c.767G>C (p.Arg256Thr)
c.1046G>C (p.Arg349Thr)
c.-4294966202G>C
c.-4294965923G>C
c.968G>C (p.Arg323Thr)
2g.232534320G=CA1335314103CHRNDc.1349G= (p.Arg450=)
c.*531G= (n.*531G=)
c.*990G= (n.*990G=)
c.1304G= (p.Arg435=)
c.767G= (p.Arg256=)
c.1046G= (p.Arg349=)
c.-4294966202G=
c.-4294965923G=
c.968G= (p.Arg323=)
2g.232534320G>TCA351005812CHRNDc.1349G>T (p.Arg450Met)
c.*531G>T (n.*531G>T)
c.*990G>T (n.*990G>T)
c.1304G>T (p.Arg435Met)
c.767G>T (p.Arg256Met)
c.1046G>T (p.Arg349Met)
c.-4294966202G>T
c.-4294965923G>T
c.968G>T (p.Arg323Met)
2g.232534321G>ACA431952487CHRNDc.1350G>A (p.Arg450=)
c.*532G>A (n.*532G>A)
c.*991G>A (n.*991G>A)
c.1305G>A (p.Arg435=)
c.768G>A (p.Arg256=)
c.1047G>A (p.Arg349=)
c.-4294966201G>A
c.-4294965922G>A
c.969G>A (p.Arg323=)
2g.232534321G>CCA351005813CHRNDc.1350G>C (p.Arg450Ser)
c.*532G>C (n.*532G>C)
c.*991G>C (n.*991G>C)
c.1305G>C (p.Arg435Ser)
c.768G>C (p.Arg256Ser)
c.1047G>C (p.Arg349Ser)
c.-4294966201G>C
c.-4294965922G>C
c.969G>C (p.Arg323Ser)
2g.232534321G>TCA351005814CHRNDc.1350G>T (p.Arg450Ser)
c.*532G>T (n.*532G>T)
c.*991G>T (n.*991G>T)
c.1305G>T (p.Arg435Ser)
c.768G>T (p.Arg256Ser)
c.1047G>T (p.Arg349Ser)
c.-4294966201G>T
c.-4294965922G>T
c.969G>T (p.Arg323Ser)
2g.232534322G>ACA351005815CHRNDc.1351G>A (p.Asp451Asn)
c.*533G>A (n.*533G>A)
c.*992G>A (n.*992G>A)
c.1306G>A (p.Asp436Asn)
c.769G>A (p.Asp257Asn)
c.1048G>A (p.Asp350Asn)
c.-4294966200G>A
c.-4294965921G>A
c.970G>A (p.Asp324Asn)
gnomAD v4 COSMIC
2g.232534322G>CCA351005816CHRNDc.1351G>C (p.Asp451His)
c.*533G>C (n.*533G>C)
c.*992G>C (n.*992G>C)
c.1306G>C (p.Asp436His)
c.769G>C (p.Asp257His)
c.1048G>C (p.Asp350His)
c.-4294966200G>C
c.-4294965921G>C
c.970G>C (p.Asp324His)
COSMIC
2g.232534322G>TCA351005817CHRNDc.1351G>T (p.Asp451Tyr)
c.*533G>T (n.*533G>T)
c.*992G>T (n.*992G>T)
c.1306G>T (p.Asp436Tyr)
c.769G>T (p.Asp257Tyr)
c.1048G>T (p.Asp350Tyr)
c.-4294966200G>T
c.-4294965921G>T
c.970G>T (p.Asp324Tyr)
gnomAD v4
2g.232534323A=CA1335314104CHRNDc.1352A= (p.Asp451=)
c.*534A= (n.*534A=)
c.*993A= (n.*993A=)
c.1307A= (p.Asp436=)
c.770A= (p.Asp257=)
c.1049A= (p.Asp350=)
c.-4294966199A=
c.-4294965920A=
c.971A= (p.Asp324=)
2g.232534323A>CCA351005818CHRNDc.1352A>C (p.Asp451Ala)
c.*534A>C (n.*534A>C)
c.*993A>C (n.*993A>C)
c.1307A>C (p.Asp436Ala)
c.770A>C (p.Asp257Ala)
c.1049A>C (p.Asp350Ala)
c.-4294966199A>C
c.-4294965920A>C
c.971A>C (p.Asp324Ala)
2g.232534323A>GCA2168326CHRNDc.1352A>G (p.Asp451Gly)
c.*534A>G (n.*534A>G)
c.*993A>G (n.*993A>G)
c.1307A>G (p.Asp436Gly)
c.770A>G (p.Asp257Gly)
c.1049A>G (p.Asp350Gly)
c.-4294966199A>G
c.-4294965920A>G
c.971A>G (p.Asp324Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534323A>TCA351005819CHRNDc.1352A>T (p.Asp451Val)
c.*534A>T (n.*534A>T)
c.*993A>T (n.*993A>T)
c.1307A>T (p.Asp436Val)
c.770A>T (p.Asp257Val)
c.1049A>T (p.Asp350Val)
c.-4294966199A>T
c.-4294965920A>T
c.971A>T (p.Asp324Val)
2g.232534324C>ACA351005821CHRNDc.1353C>A (p.Asp451Glu)
c.*535C>A (n.*535C>A)
c.*994C>A (n.*994C>A)
c.1308C>A (p.Asp436Glu)
c.771C>A (p.Asp257Glu)
c.1050C>A (p.Asp350Glu)
c.-4294966198C>A
c.-4294965919C>A
c.972C>A (p.Asp324Glu)
2g.232534324C>GCA351005820CHRNDc.1353C>G (p.Asp451Glu)
c.*535C>G (n.*535C>G)
c.*994C>G (n.*994C>G)
c.1308C>G (p.Asp436Glu)
c.771C>G (p.Asp257Glu)
c.1050C>G (p.Asp350Glu)
c.-4294966198C>G
c.-4294965919C>G
c.972C>G (p.Asp324Glu)
2g.232534324C>TCA431952490CHRNDc.1353C>T (p.Asp451=)
c.*535C>T (n.*535C>T)
c.*994C>T (n.*994C>T)
c.1308C>T (p.Asp436=)
c.771C>T (p.Asp257=)
c.1050C>T (p.Asp350=)
c.-4294966198C>T
c.-4294965919C>T
c.972C>T (p.Asp324=)
2g.232534325C>ACA351005822CHRNDc.1354C>A (p.Gln452Lys)
c.*536C>A (n.*536C>A)
c.*995C>A (n.*995C>A)
c.1309C>A (p.Gln437Lys)
c.772C>A (p.Gln258Lys)
c.1051C>A (p.Gln351Lys)
c.-4294966197C>A
c.-4294965918C>A
c.973C>A (p.Gln325Lys)
2g.232534325C>GCA351005823CHRNDc.1354C>G (p.Gln452Glu)
c.*536C>G (n.*536C>G)
c.*995C>G (n.*995C>G)
c.1309C>G (p.Gln437Glu)
c.772C>G (p.Gln258Glu)
c.1051C>G (p.Gln351Glu)
c.-4294966197C>G
c.-4294965918C>G
c.973C>G (p.Gln325Glu)
2g.232534325C>TCA351005824CHRNDc.1354C>T (p.Gln452Ter)
c.*536C>T (n.*536C>T)
c.*995C>T (n.*995C>T)
c.1309C>T (p.Gln437Ter)
c.772C>T (p.Gln258Ter)
c.1051C>T (p.Gln351Ter)
c.-4294966197C>T
c.-4294965918C>T
c.973C>T (p.Gln325Ter)
gnomAD v4
2g.232534326A>CCA351005825CHRNDc.1355A>C (p.Gln452Pro)
c.*537A>C (n.*537A>C)
c.*996A>C (n.*996A>C)
c.1310A>C (p.Gln437Pro)
c.773A>C (p.Gln258Pro)
c.1052A>C (p.Gln351Pro)
c.-4294966196A>C
c.-4294965917A>C
c.974A>C (p.Gln325Pro)
2g.232534326A>GCA351005826CHRNDc.1355A>G (p.Gln452Arg)
c.*537A>G (n.*537A>G)
c.*996A>G (n.*996A>G)
c.1310A>G (p.Gln437Arg)
c.773A>G (p.Gln258Arg)
c.1052A>G (p.Gln351Arg)
c.-4294966196A>G
c.-4294965917A>G
c.974A>G (p.Gln325Arg)
2g.232534326A>TCA351005827CHRNDc.1355A>T (p.Gln452Leu)
c.*537A>T (n.*537A>T)
c.*996A>T (n.*996A>T)
c.1310A>T (p.Gln437Leu)
c.773A>T (p.Gln258Leu)
c.1052A>T (p.Gln351Leu)
c.-4294966196A>T
c.-4294965917A>T
c.974A>T (p.Gln325Leu)
2g.232534327G>ACA431952493CHRNDc.1356G>A (p.Gln452=)
c.*538G>A (n.*538G>A)
c.*997G>A (n.*997G>A)
c.1311G>A (p.Gln437=)
c.774G>A (p.Gln258=)
c.1053G>A (p.Gln351=)
c.-4294966195G>A
c.-4294965916G>A
c.975G>A (p.Gln325=)
dbSNP gnomAD v4
2g.232534327G>CCA351005829CHRNDc.1356G>C (p.Gln452His)
c.*538G>C (n.*538G>C)
c.*997G>C (n.*997G>C)
c.1311G>C (p.Gln437His)
c.774G>C (p.Gln258His)
c.1053G>C (p.Gln351His)
c.-4294966195G>C
c.-4294965916G>C
c.975G>C (p.Gln325His)
dbSNP gnomAD v2
2g.232534327G=CA1335314105CHRNDc.1356G= (p.Gln452=)
c.*538G= (n.*538G=)
c.*997G= (n.*997G=)
c.1311G= (p.Gln437=)
c.774G= (p.Gln258=)
c.1053G= (p.Gln351=)
c.-4294966195G=
c.-4294965916G=
c.975G= (p.Gln325=)
2g.232534327G>TCA351005828CHRNDc.1356G>T (p.Gln452His)
c.*538G>T (n.*538G>T)
c.*997G>T (n.*997G>T)
c.1311G>T (p.Gln437His)
c.774G>T (p.Gln258His)
c.1053G>T (p.Gln351His)
c.-4294966195G>T
c.-4294965916G>T
c.975G>T (p.Gln325His)
2g.232534328A>CCA351005830CHRNDc.1357A>C (p.Asn453His)
c.*539A>C (n.*539A>C)
c.*998A>C (n.*998A>C)
c.1312A>C (p.Asn438His)
c.775A>C (p.Asn259His)
c.1054A>C (p.Asn352His)
c.-4294966194A>C
c.-4294965915A>C
c.976A>C (p.Asn326His)
2g.232534328A>GCA351005831CHRNDc.1357A>G (p.Asn453Asp)
c.*539A>G (n.*539A>G)
c.*998A>G (n.*998A>G)
c.1312A>G (p.Asn438Asp)
c.775A>G (p.Asn259Asp)
c.1054A>G (p.Asn352Asp)
c.-4294966194A>G
c.-4294965915A>G
c.976A>G (p.Asn326Asp)
2g.232534328A>TCA351005832CHRNDc.1357A>T (p.Asn453Tyr)
c.*539A>T (n.*539A>T)
c.*998A>T (n.*998A>T)
c.1312A>T (p.Asn438Tyr)
c.775A>T (p.Asn259Tyr)
c.1054A>T (p.Asn352Tyr)
c.-4294966194A>T
c.-4294965915A>T
c.976A>T (p.Asn326Tyr)
2g.232534329A>CCA351005833CHRNDc.1358A>C (p.Asn453Thr)
c.*540A>C (n.*540A>C)
c.*999A>C (n.*999A>C)
c.1313A>C (p.Asn438Thr)
c.776A>C (p.Asn259Thr)
c.1055A>C (p.Asn352Thr)
c.-4294966193A>C
c.-4294965914A>C
c.977A>C (p.Asn326Thr)
2g.232534329A>GCA351005834CHRNDc.1358A>G (p.Asn453Ser)
c.*540A>G (n.*540A>G)
c.*999A>G (n.*999A>G)
c.1313A>G (p.Asn438Ser)
c.776A>G (p.Asn259Ser)
c.1055A>G (p.Asn352Ser)
c.-4294966193A>G
c.-4294965914A>G
c.977A>G (p.Asn326Ser)
2g.232534329A>TCA351005835CHRNDc.1358A>T (p.Asn453Ile)
c.*540A>T (n.*540A>T)
c.*999A>T (n.*999A>T)
c.1313A>T (p.Asn438Ile)
c.776A>T (p.Asn259Ile)
c.1055A>T (p.Asn352Ile)
c.-4294966193A>T
c.-4294965914A>T
c.977A>T (p.Asn326Ile)
2g.232534330C>ACA351005836CHRNDc.1359C>A (p.Asn453Lys)
c.*541C>A (n.*541C>A)
c.*1000C>A (n.*1000C>A)
c.1314C>A (p.Asn438Lys)
c.777C>A (p.Asn259Lys)
c.1056C>A (p.Asn352Lys)
c.-4294966192C>A
c.-4294965913C>A
c.978C>A (p.Asn326Lys)
dbSNP
2g.232534330C=CA1335314106CHRNDc.1359C= (p.Asn453=)
c.*541C= (n.*541C=)
c.*1000C= (n.*1000C=)
c.1314C= (p.Asn438=)
c.777C= (p.Asn259=)
c.1056C= (p.Asn352=)
c.-4294966192C=
c.-4294965913C=
c.978C= (p.Asn326=)
2g.232534330C>GCA351005837CHRNDc.1359C>G (p.Asn453Lys)
c.*541C>G (n.*541C>G)
c.*1000C>G (n.*1000C>G)
c.1314C>G (p.Asn438Lys)
c.777C>G (p.Asn259Lys)
c.1056C>G (p.Asn352Lys)
c.-4294966192C>G
c.-4294965913C>G
c.978C>G (p.Asn326Lys)
2g.232534330C>TCA2168327CHRNDc.1359C>T (p.Asn453=)
c.*541C>T (n.*541C>T)
c.*1000C>T (n.*1000C>T)
c.1314C>T (p.Asn438=)
c.777C>T (p.Asn259=)
c.1056C>T (p.Asn352=)
c.-4294966192C>T
c.-4294965913C>T
c.978C>T (p.Asn326=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534331A=CA1335314107CHRNDc.1360A= (p.Asn454=)
c.*542A= (n.*542A=)
c.*1001A= (n.*1001A=)
c.1315A= (p.Asn439=)
c.778A= (p.Asn260=)
c.1057A= (p.Asn353=)
c.-4294966191A=
c.-4294965912A=
c.979A= (p.Asn327=)
2g.232534331A>CCA351005838CHRNDc.1360A>C (p.Asn454His)
c.*542A>C (n.*542A>C)
c.*1001A>C (n.*1001A>C)
c.1315A>C (p.Asn439His)
c.778A>C (p.Asn260His)
c.1057A>C (p.Asn353His)
c.-4294966191A>C
c.-4294965912A>C
c.979A>C (p.Asn327His)
gnomAD v4
2g.232534331A>GCA2168328CHRNDc.1360A>G (p.Asn454Asp)
c.*542A>G (n.*542A>G)
c.*1001A>G (n.*1001A>G)
c.1315A>G (p.Asn439Asp)
c.778A>G (p.Asn260Asp)
c.1057A>G (p.Asn353Asp)
c.-4294966191A>G
c.-4294965912A>G
c.979A>G (p.Asn327Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.232534331A>TCA351005839CHRNDc.1360A>T (p.Asn454Tyr)
c.*542A>T (n.*542A>T)
c.*1001A>T (n.*1001A>T)
c.1315A>T (p.Asn439Tyr)
c.778A>T (p.Asn260Tyr)
c.1057A>T (p.Asn353Tyr)
c.-4294966191A>T
c.-4294965912A>T
c.979A>T (p.Asn327Tyr)
2g.232534332A>CCA351005840CHRNDc.1361A>C (p.Asn454Thr)
c.*543A>C (n.*543A>C)
c.*1002A>C (n.*1002A>C)
c.1316A>C (p.Asn439Thr)
c.779A>C (p.Asn260Thr)
c.1058A>C (p.Asn353Thr)
c.-4294966190A>C
c.-4294965911A>C
c.980A>C (p.Asn327Thr)
2g.232534332A>GCA351005841CHRNDc.1361A>G (p.Asn454Ser)
c.*543A>G (n.*543A>G)
c.*1002A>G (n.*1002A>G)
c.1316A>G (p.Asn439Ser)
c.779A>G (p.Asn260Ser)
c.1058A>G (p.Asn353Ser)
c.-4294966190A>G
c.-4294965911A>G
c.980A>G (p.Asn327Ser)
2g.232534332A>TCA351005842CHRNDc.1361A>T (p.Asn454Ile)
c.*543A>T (n.*543A>T)
c.*1002A>T (n.*1002A>T)
c.1316A>T (p.Asn439Ile)
c.779A>T (p.Asn260Ile)
c.1058A>T (p.Asn353Ile)
c.-4294966190A>T
c.-4294965911A>T
c.980A>T (p.Asn327Ile)

Number of alleles fetched