Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232533936C>ACA351004788CHRNDc.1053C>A (p.Phe351Leu)
c.*235C>A (n.*235C>A)
c.*694C>A (n.*694C>A)
c.1008C>A (p.Phe336Leu)
c.471C>A (p.Phe157Leu)
c.750C>A (p.Phe250Leu)
c.-4294966498C>A
c.-4294966219C>A
c.672C>A (p.Phe224Leu)
2g.232533936C>GCA351004790CHRNDc.1053C>G (p.Phe351Leu)
c.*235C>G (n.*235C>G)
c.*694C>G (n.*694C>G)
c.1008C>G (p.Phe336Leu)
c.471C>G (p.Phe157Leu)
c.750C>G (p.Phe250Leu)
c.-4294966498C>G
c.-4294966219C>G
c.672C>G (p.Phe224Leu)
2g.232533936C>TCA431952420CHRNDc.1053C>T (p.Phe351=)
c.*235C>T (n.*235C>T)
c.*694C>T (n.*694C>T)
c.1008C>T (p.Phe336=)
c.471C>T (p.Phe157=)
c.750C>T (p.Phe250=)
c.-4294966498C>T
c.-4294966219C>T
c.672C>T (p.Phe224=)
2g.232533937C>ACA351004792CHRNDc.1054C>A (p.Leu352Met)
c.*236C>A (n.*236C>A)
c.*695C>A (n.*695C>A)
c.1009C>A (p.Leu337Met)
c.472C>A (p.Leu158Met)
c.751C>A (p.Leu251Met)
c.-4294966497C>A
c.-4294966218C>A
c.673C>A (p.Leu225Met)
2g.232533937C=CA1335313934CHRNDc.1054C= (p.Leu352=)
c.*236C= (n.*236C=)
c.*695C= (n.*695C=)
c.1009C= (p.Leu337=)
c.472C= (p.Leu158=)
c.751C= (p.Leu251=)
c.-4294966497C=
c.-4294966218C=
c.673C= (p.Leu225=)
2g.232533937C>GCA351004793CHRNDc.1054C>G (p.Leu352Val)
c.*236C>G (n.*236C>G)
c.*695C>G (n.*695C>G)
c.1009C>G (p.Leu337Val)
c.472C>G (p.Leu158Val)
c.751C>G (p.Leu251Val)
c.-4294966497C>G
c.-4294966218C>G
c.673C>G (p.Leu225Val)
2g.232533937C>TCA66957355CHRNDc.1054C>T (p.Leu352=)
c.*236C>T (n.*236C>T)
c.*695C>T (n.*695C>T)
c.1009C>T (p.Leu337=)
c.472C>T (p.Leu158=)
c.751C>T (p.Leu251=)
c.-4294966497C>T
c.-4294966218C>T
c.673C>T (p.Leu225=)
dbSNP gnomAD v4
2g.232533938T>ACA351004795CHRNDc.1055T>A (p.Leu352Gln)
c.*237T>A (n.*237T>A)
c.*696T>A (n.*696T>A)
c.1010T>A (p.Leu337Gln)
c.473T>A (p.Leu158Gln)
c.752T>A (p.Leu251Gln)
c.-4294966496T>A
c.-4294966217T>A
c.674T>A (p.Leu225Gln)
2g.232533938T>CCA351004796CHRNDc.1055T>C (p.Leu352Pro)
c.*237T>C (n.*237T>C)
c.*696T>C (n.*696T>C)
c.1010T>C (p.Leu337Pro)
c.473T>C (p.Leu158Pro)
c.752T>C (p.Leu251Pro)
c.-4294966496T>C
c.-4294966217T>C
c.674T>C (p.Leu225Pro)
2g.232533938T>GCA351004799CHRNDc.1055T>G (p.Leu352Arg)
c.*237T>G (n.*237T>G)
c.*696T>G (n.*696T>G)
c.1010T>G (p.Leu337Arg)
c.473T>G (p.Leu158Arg)
c.752T>G (p.Leu251Arg)
c.-4294966496T>G
c.-4294966217T>G
c.674T>G (p.Leu225Arg)
2g.232533939G>ACA431952422CHRNDc.1056G>A (p.Leu352=)
c.*238G>A (n.*238G>A)
c.*697G>A (n.*697G>A)
c.1011G>A (p.Leu337=)
c.474G>A (p.Leu158=)
c.753G>A (p.Leu251=)
c.-4294966495G>A
c.-4294966216G>A
c.675G>A (p.Leu225=)
COSMIC
2g.232533939G>CCA431952423CHRNDc.1056G>C (p.Leu352=)
c.*238G>C (n.*238G>C)
c.*697G>C (n.*697G>C)
c.1011G>C (p.Leu337=)
c.474G>C (p.Leu158=)
c.753G>C (p.Leu251=)
c.-4294966495G>C
c.-4294966216G>C
c.675G>C (p.Leu225=)
2g.232533939G>TCA431952424CHRNDc.1056G>T (p.Leu352=)
c.*238G>T (n.*238G>T)
c.*697G>T (n.*697G>T)
c.1011G>T (p.Leu337=)
c.474G>T (p.Leu158=)
c.753G>T (p.Leu251=)
c.-4294966495G>T
c.-4294966216G>T
c.675G>T (p.Leu225=)
ClinVar
2g.232533943_232533954delCA2577278115CHRNDc.1060_1071del (p.Thr354_Glu357del)
c.*242_*253del (n.*242_*253del)
c.*701_*712del (n.*701_*712del)
c.1015_1026del (p.Thr339_Glu342del)
c.478_489del (p.Thr160_Glu163del)
c.757_768del (p.Thr253_Glu256del)
c.-4294966491_-4294966480del
c.-4294966212_-4294966201del
c.679_690del (p.Thr227_Glu230del)
gnomAD v4
2g.232533940G>ACA351004801CHRNDc.1057G>A (p.Glu353Lys)
c.*239G>A (n.*239G>A)
c.*698G>A (n.*698G>A)
c.1012G>A (p.Glu338Lys)
c.475G>A (p.Glu159Lys)
c.754G>A (p.Glu252Lys)
c.-4294966494G>A
c.-4294966215G>A
c.676G>A (p.Glu226Lys)
2g.232533940G>CCA351004802CHRNDc.1057G>C (p.Glu353Gln)
c.*239G>C (n.*239G>C)
c.*698G>C (n.*698G>C)
c.1012G>C (p.Glu338Gln)
c.475G>C (p.Glu159Gln)
c.754G>C (p.Glu252Gln)
c.-4294966494G>C
c.-4294966215G>C
c.676G>C (p.Glu226Gln)
2g.232533940G>TCA351004805CHRNDc.1057G>T (p.Glu353Ter)
c.*239G>T (n.*239G>T)
c.*698G>T (n.*698G>T)
c.1012G>T (p.Glu338Ter)
c.475G>T (p.Glu159Ter)
c.754G>T (p.Glu252Ter)
c.-4294966494G>T
c.-4294966215G>T
c.676G>T (p.Glu226Ter)
2g.232533941A>CCA351004809CHRNDc.1058A>C (p.Glu353Ala)
c.*240A>C (n.*240A>C)
c.*699A>C (n.*699A>C)
c.1013A>C (p.Glu338Ala)
c.476A>C (p.Glu159Ala)
c.755A>C (p.Glu252Ala)
c.-4294966493A>C
c.-4294966214A>C
c.677A>C (p.Glu226Ala)
2g.232533941A>GCA351004808CHRNDc.1058A>G (p.Glu353Gly)
c.*240A>G (n.*240A>G)
c.*699A>G (n.*699A>G)
c.1013A>G (p.Glu338Gly)
c.476A>G (p.Glu159Gly)
c.755A>G (p.Glu252Gly)
c.-4294966493A>G
c.-4294966214A>G
c.677A>G (p.Glu226Gly)
2g.232533941A>TCA351004807CHRNDc.1058A>T (p.Glu353Val)
c.*240A>T (n.*240A>T)
c.*699A>T (n.*699A>T)
c.1013A>T (p.Glu338Val)
c.476A>T (p.Glu159Val)
c.755A>T (p.Glu252Val)
c.-4294966493A>T
c.-4294966214A>T
c.677A>T (p.Glu226Val)
2g.232533942G>ACA431952425CHRNDc.1059G>A (p.Glu353=)
c.*241G>A (n.*241G>A)
c.*700G>A (n.*700G>A)
c.1014G>A (p.Glu338=)
c.477G>A (p.Glu159=)
c.756G>A (p.Glu252=)
c.-4294966492G>A
c.-4294966213G>A
c.678G>A (p.Glu226=)
2g.232533942G>CCA351004812CHRNDc.1059G>C (p.Glu353Asp)
c.*241G>C (n.*241G>C)
c.*700G>C (n.*700G>C)
c.1014G>C (p.Glu338Asp)
c.477G>C (p.Glu159Asp)
c.756G>C (p.Glu252Asp)
c.-4294966492G>C
c.-4294966213G>C
c.678G>C (p.Glu226Asp)
2g.232533942G>TCA351004816CHRNDc.1059G>T (p.Glu353Asp)
c.*241G>T (n.*241G>T)
c.*700G>T (n.*700G>T)
c.1014G>T (p.Glu338Asp)
c.477G>T (p.Glu159Asp)
c.756G>T (p.Glu252Asp)
c.-4294966492G>T
c.-4294966213G>T
c.678G>T (p.Glu226Asp)
2g.232533943A>CCA351004818CHRNDc.1060A>C (p.Thr354Pro)
c.*242A>C (n.*242A>C)
c.*701A>C (n.*701A>C)
c.1015A>C (p.Thr339Pro)
c.478A>C (p.Thr160Pro)
c.757A>C (p.Thr253Pro)
c.-4294966491A>C
c.-4294966212A>C
c.679A>C (p.Thr227Pro)
2g.232533943A>GCA351004822CHRNDc.1060A>G (p.Thr354Ala)
c.*242A>G (n.*242A>G)
c.*701A>G (n.*701A>G)
c.1015A>G (p.Thr339Ala)
c.478A>G (p.Thr160Ala)
c.757A>G (p.Thr253Ala)
c.-4294966491A>G
c.-4294966212A>G
c.679A>G (p.Thr227Ala)
2g.232533943A>TCA351004823CHRNDc.1060A>T (p.Thr354Ser)
c.*242A>T (n.*242A>T)
c.*701A>T (n.*701A>T)
c.1015A>T (p.Thr339Ser)
c.478A>T (p.Thr160Ser)
c.757A>T (p.Thr253Ser)
c.-4294966491A>T
c.-4294966212A>T
c.679A>T (p.Thr227Ser)
2g.232533944C>ACA351004824CHRNDc.1061C>A (p.Thr354Asn)
c.*243C>A (n.*243C>A)
c.*702C>A (n.*702C>A)
c.1016C>A (p.Thr339Asn)
c.479C>A (p.Thr160Asn)
c.758C>A (p.Thr253Asn)
c.-4294966490C>A
c.-4294966211C>A
c.680C>A (p.Thr227Asn)
dbSNP
2g.232533944C=CA1335313935CHRNDc.1061C= (p.Thr354=)
c.*243C= (n.*243C=)
c.*702C= (n.*702C=)
c.1016C= (p.Thr339=)
c.479C= (p.Thr160=)
c.758C= (p.Thr253=)
c.-4294966490C=
c.-4294966211C=
c.680C= (p.Thr227=)
2g.232533944C>GCA351004825CHRNDc.1061C>G (p.Thr354Ser)
c.*243C>G (n.*243C>G)
c.*702C>G (n.*702C>G)
c.1016C>G (p.Thr339Ser)
c.479C>G (p.Thr160Ser)
c.758C>G (p.Thr253Ser)
c.-4294966490C>G
c.-4294966211C>G
c.680C>G (p.Thr227Ser)
2g.232533944C>TCA351004826CHRNDc.1061C>T (p.Thr354Ile)
c.*243C>T (n.*243C>T)
c.*702C>T (n.*702C>T)
c.1016C>T (p.Thr339Ile)
c.479C>T (p.Thr160Ile)
c.758C>T (p.Thr253Ile)
c.-4294966490C>T
c.-4294966211C>T
c.680C>T (p.Thr227Ile)
dbSNP
2g.232533945C>ACA431952429CHRNDc.1062C>A (p.Thr354=)
c.*244C>A (n.*244C>A)
c.*703C>A (n.*703C>A)
c.1017C>A (p.Thr339=)
c.480C>A (p.Thr160=)
c.759C>A (p.Thr253=)
c.-4294966489C>A
c.-4294966210C>A
c.681C>A (p.Thr227=)
2g.232533945C=CA1335313936CHRNDc.1062C= (p.Thr354=)
c.*244C= (n.*244C=)
c.*703C= (n.*703C=)
c.1017C= (p.Thr339=)
c.480C= (p.Thr160=)
c.759C= (p.Thr253=)
c.-4294966489C=
c.-4294966210C=
c.681C= (p.Thr227=)
2g.232533945C>GCA431952431CHRNDc.1062C>G (p.Thr354=)
c.*244C>G (n.*244C>G)
c.*703C>G (n.*703C>G)
c.1017C>G (p.Thr339=)
c.480C>G (p.Thr160=)
c.759C>G (p.Thr253=)
c.-4294966489C>G
c.-4294966210C>G
c.681C>G (p.Thr227=)
2g.232533945C>TCA431952433CHRNDc.1062C>T (p.Thr354=)
c.*244C>T (n.*244C>T)
c.*703C>T (n.*703C>T)
c.1017C>T (p.Thr339=)
c.480C>T (p.Thr160=)
c.759C>T (p.Thr253=)
c.-4294966489C>T
c.-4294966210C>T
c.681C>T (p.Thr227=)
dbSNP gnomAD v4
2g.232533946C>ACA351004827CHRNDc.1063C>A (p.Leu355Met)
c.*245C>A (n.*245C>A)
c.*704C>A (n.*704C>A)
c.1018C>A (p.Leu340Met)
c.481C>A (p.Leu161Met)
c.760C>A (p.Leu254Met)
c.-4294966488C>A
c.-4294966209C>A
c.682C>A (p.Leu228Met)
2g.232533946C>GCA351004828CHRNDc.1063C>G (p.Leu355Val)
c.*245C>G (n.*245C>G)
c.*704C>G (n.*704C>G)
c.1018C>G (p.Leu340Val)
c.481C>G (p.Leu161Val)
c.760C>G (p.Leu254Val)
c.-4294966488C>G
c.-4294966209C>G
c.682C>G (p.Leu228Val)
2g.232533946C>TCA431952434CHRNDc.1063C>T (p.Leu355=)
c.*245C>T (n.*245C>T)
c.*704C>T (n.*704C>T)
c.1018C>T (p.Leu340=)
c.481C>T (p.Leu161=)
c.760C>T (p.Leu254=)
c.-4294966488C>T
c.-4294966209C>T
c.682C>T (p.Leu228=)
2g.232533947T>ACA351004830CHRNDc.1064T>A (p.Leu355Gln)
c.*246T>A (n.*246T>A)
c.*705T>A (n.*705T>A)
c.1019T>A (p.Leu340Gln)
c.482T>A (p.Leu161Gln)
c.761T>A (p.Leu254Gln)
c.-4294966487T>A
c.-4294966208T>A
c.683T>A (p.Leu228Gln)
2g.232533947T>CCA351004838CHRNDc.1064T>C (p.Leu355Pro)
c.*246T>C (n.*246T>C)
c.*705T>C (n.*705T>C)
c.1019T>C (p.Leu340Pro)
c.482T>C (p.Leu161Pro)
c.761T>C (p.Leu254Pro)
c.-4294966487T>C
c.-4294966208T>C
c.683T>C (p.Leu228Pro)
2g.232533947T>GCA351004841CHRNDc.1064T>G (p.Leu355Arg)
c.*246T>G (n.*246T>G)
c.*705T>G (n.*705T>G)
c.1019T>G (p.Leu340Arg)
c.482T>G (p.Leu161Arg)
c.761T>G (p.Leu254Arg)
c.-4294966487T>G
c.-4294966208T>G
c.683T>G (p.Leu228Arg)
2g.232533948G>ACA431952438CHRNDc.1065G>A (p.Leu355=)
c.*247G>A (n.*247G>A)
c.*706G>A (n.*706G>A)
c.1020G>A (p.Leu340=)
c.483G>A (p.Leu161=)
c.762G>A (p.Leu254=)
c.-4294966486G>A
c.-4294966207G>A
c.684G>A (p.Leu228=)
2g.232533948G>CCA431952437CHRNDc.1065G>C (p.Leu355=)
c.*247G>C (n.*247G>C)
c.*706G>C (n.*706G>C)
c.1020G>C (p.Leu340=)
c.483G>C (p.Leu161=)
c.762G>C (p.Leu254=)
c.-4294966486G>C
c.-4294966207G>C
c.684G>C (p.Leu228=)
2g.232533948G>TCA431952436CHRNDc.1065G>T (p.Leu355=)
c.*247G>T (n.*247G>T)
c.*706G>T (n.*706G>T)
c.1020G>T (p.Leu340=)
c.483G>T (p.Leu161=)
c.762G>T (p.Leu254=)
c.-4294966486G>T
c.-4294966207G>T
c.684G>T (p.Leu228=)
2g.232533949C>ACA351004846CHRNDc.1066C>A (p.Pro356Thr)
c.*248C>A (n.*248C>A)
c.*707C>A (n.*707C>A)
c.1021C>A (p.Pro341Thr)
c.484C>A (p.Pro162Thr)
c.763C>A (p.Pro255Thr)
c.-4294966485C>A
c.-4294966206C>A
c.685C>A (p.Pro229Thr)
gnomAD v4
2g.232533949C=CA1335313937CHRNDc.1066C= (p.Pro356=)
c.*248C= (n.*248C=)
c.*707C= (n.*707C=)
c.1021C= (p.Pro341=)
c.484C= (p.Pro162=)
c.763C= (p.Pro255=)
c.-4294966485C=
c.-4294966206C=
c.685C= (p.Pro229=)
2g.232533949C>GCA351004849CHRNDc.1066C>G (p.Pro356Ala)
c.*248C>G (n.*248C>G)
c.*707C>G (n.*707C>G)
c.1021C>G (p.Pro341Ala)
c.484C>G (p.Pro162Ala)
c.763C>G (p.Pro255Ala)
c.-4294966485C>G
c.-4294966206C>G
c.685C>G (p.Pro229Ala)
2g.232533949C>TCA2168257CHRNDc.1066C>T (p.Pro356Ser)
c.*248C>T (n.*248C>T)
c.*707C>T (n.*707C>T)
c.1021C>T (p.Pro341Ser)
c.484C>T (p.Pro162Ser)
c.763C>T (p.Pro255Ser)
c.-4294966485C>T
c.-4294966206C>T
c.685C>T (p.Pro229Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232533950C>ACA351004850CHRNDc.1067C>A (p.Pro356Gln)
c.*249C>A (n.*249C>A)
c.*708C>A (n.*708C>A)
c.1022C>A (p.Pro341Gln)
c.485C>A (p.Pro162Gln)
c.764C>A (p.Pro255Gln)
c.-4294966484C>A
c.-4294966205C>A
c.686C>A (p.Pro229Gln)
2g.232533950C=CA1335313938CHRNDc.1067C= (p.Pro356=)
c.*249C= (n.*249C=)
c.*708C= (n.*708C=)
c.1022C= (p.Pro341=)
c.485C= (p.Pro162=)
c.764C= (p.Pro255=)
c.-4294966484C=
c.-4294966205C=
c.686C= (p.Pro229=)
2g.232533950C>GCA351004852CHRNDc.1067C>G (p.Pro356Arg)
c.*249C>G (n.*249C>G)
c.*708C>G (n.*708C>G)
c.1022C>G (p.Pro341Arg)
c.485C>G (p.Pro162Arg)
c.764C>G (p.Pro255Arg)
c.-4294966484C>G
c.-4294966205C>G
c.686C>G (p.Pro229Arg)
2g.232533950C>TCA2168258CHRNDc.1067C>T (p.Pro356Leu)
c.*249C>T (n.*249C>T)
c.*708C>T (n.*708C>T)
c.1022C>T (p.Pro341Leu)
c.485C>T (p.Pro162Leu)
c.764C>T (p.Pro255Leu)
c.-4294966484C>T
c.-4294966205C>T
c.686C>T (p.Pro229Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232533951G>ACA2168259CHRNDc.1068G>A (p.Pro356=)
c.*250G>A (n.*250G>A)
c.*709G>A (n.*709G>A)
c.1023G>A (p.Pro341=)
c.486G>A (p.Pro162=)
c.765G>A (p.Pro255=)
c.-4294966483G>A
c.-4294966204G>A
c.687G>A (p.Pro229=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232533951G>CCA431952442CHRNDc.1068G>C (p.Pro356=)
c.*250G>C (n.*250G>C)
c.*709G>C (n.*709G>C)
c.1023G>C (p.Pro341=)
c.486G>C (p.Pro162=)
c.765G>C (p.Pro255=)
c.-4294966483G>C
c.-4294966204G>C
c.687G>C (p.Pro229=)
2g.232533951G=CA1335313939CHRNDc.1068G= (p.Pro356=)
c.*250G= (n.*250G=)
c.*709G= (n.*709G=)
c.1023G= (p.Pro341=)
c.486G= (p.Pro162=)
c.765G= (p.Pro255=)
c.-4294966483G=
c.-4294966204G=
c.687G= (p.Pro229=)
2g.232533951G>TCA431952443CHRNDc.1068G>T (p.Pro356=)
c.*250G>T (n.*250G>T)
c.*709G>T (n.*709G>T)
c.1023G>T (p.Pro341=)
c.486G>T (p.Pro162=)
c.765G>T (p.Pro255=)
c.-4294966483G>T
c.-4294966204G>T
c.687G>T (p.Pro229=)
2g.232533952G>ACA351004857CHRNDc.1069G>A (p.Glu357Lys)
c.*251G>A (n.*251G>A)
c.*710G>A (n.*710G>A)
c.1024G>A (p.Glu342Lys)
c.487G>A (p.Glu163Lys)
c.766G>A (p.Glu256Lys)
c.-4294966482G>A
c.-4294966203G>A
c.688G>A (p.Glu230Lys)
2g.232533952G>CCA351004859CHRNDc.1069G>C (p.Glu357Gln)
c.*251G>C (n.*251G>C)
c.*710G>C (n.*710G>C)
c.1024G>C (p.Glu342Gln)
c.487G>C (p.Glu163Gln)
c.766G>C (p.Glu256Gln)
c.-4294966482G>C
c.-4294966203G>C
c.688G>C (p.Glu230Gln)
2g.232533952G>TCA351004861CHRNDc.1069G>T (p.Glu357Ter)
c.*251G>T (n.*251G>T)
c.*710G>T (n.*710G>T)
c.1024G>T (p.Glu342Ter)
c.487G>T (p.Glu163Ter)
c.766G>T (p.Glu256Ter)
c.-4294966482G>T
c.-4294966203G>T
c.688G>T (p.Glu230Ter)
2g.232533953A>CCA351004863CHRNDc.1070A>C (p.Glu357Ala)
c.*252A>C (n.*252A>C)
c.*711A>C (n.*711A>C)
c.1025A>C (p.Glu342Ala)
c.488A>C (p.Glu163Ala)
c.767A>C (p.Glu256Ala)
c.-4294966481A>C
c.-4294966202A>C
c.689A>C (p.Glu230Ala)
2g.232533953A>GCA351004865CHRNDc.1070A>G (p.Glu357Gly)
c.*252A>G (n.*252A>G)
c.*711A>G (n.*711A>G)
c.1025A>G (p.Glu342Gly)
c.488A>G (p.Glu163Gly)
c.767A>G (p.Glu256Gly)
c.-4294966481A>G
c.-4294966202A>G
c.689A>G (p.Glu230Gly)
2g.232533953A>TCA351004867CHRNDc.1070A>T (p.Glu357Val)
c.*252A>T (n.*252A>T)
c.*711A>T (n.*711A>T)
c.1025A>T (p.Glu342Val)
c.488A>T (p.Glu163Val)
c.767A>T (p.Glu256Val)
c.-4294966481A>T
c.-4294966202A>T
c.689A>T (p.Glu230Val)
2g.232533954G>ACA431952446CHRNDc.1071G>A (p.Glu357=)
c.*253G>A (n.*253G>A)
c.*712G>A (n.*712G>A)
c.1026G>A (p.Glu342=)
c.489G>A (p.Glu163=)
c.768G>A (p.Glu256=)
c.-4294966480G>A
c.-4294966201G>A
c.690G>A (p.Glu230=)
2g.232533954G>CCA351004869CHRNDc.1071G>C (p.Glu357Asp)
c.*253G>C (n.*253G>C)
c.*712G>C (n.*712G>C)
c.1026G>C (p.Glu342Asp)
c.489G>C (p.Glu163Asp)
c.768G>C (p.Glu256Asp)
c.-4294966480G>C
c.-4294966201G>C
c.690G>C (p.Glu230Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.232533954G=CA1335313940CHRNDc.1071G= (p.Glu357=)
c.*253G= (n.*253G=)
c.*712G= (n.*712G=)
c.1026G= (p.Glu342=)
c.489G= (p.Glu163=)
c.768G= (p.Glu256=)
c.-4294966480G=
c.-4294966201G=
c.690G= (p.Glu230=)
2g.232533954G>TCA351004870CHRNDc.1071G>T (p.Glu357Asp)
c.*253G>T (n.*253G>T)
c.*712G>T (n.*712G>T)
c.1026G>T (p.Glu342Asp)
c.489G>T (p.Glu163Asp)
c.768G>T (p.Glu256Asp)
c.-4294966480G>T
c.-4294966201G>T
c.690G>T (p.Glu230Asp)
2g.232533955C>ACA351004876CHRNDc.1072C>A (p.Leu358Ile)
c.*254C>A (n.*254C>A)
c.*713C>A (n.*713C>A)
c.1027C>A (p.Leu343Ile)
c.490C>A (p.Leu164Ile)
c.769C>A (p.Leu257Ile)
c.-4294966479C>A
c.-4294966200C>A
c.691C>A (p.Leu231Ile)
dbSNP gnomAD v2 gnomAD v4
2g.232533955C=CA1335313941CHRNDc.1072C= (p.Leu358=)
c.*254C= (n.*254C=)
c.*713C= (n.*713C=)
c.1027C= (p.Leu343=)
c.490C= (p.Leu164=)
c.769C= (p.Leu257=)
c.-4294966479C=
c.-4294966200C=
c.691C= (p.Leu231=)
2g.232533955C>GCA351004872CHRNDc.1072C>G (p.Leu358Val)
c.*254C>G (n.*254C>G)
c.*713C>G (n.*713C>G)
c.1027C>G (p.Leu343Val)
c.490C>G (p.Leu164Val)
c.769C>G (p.Leu257Val)
c.-4294966479C>G
c.-4294966200C>G
c.691C>G (p.Leu231Val)
gnomAD v4
2g.232533955C>TCA351004874CHRNDc.1072C>T (p.Leu358Phe)
c.*254C>T (n.*254C>T)
c.*713C>T (n.*713C>T)
c.1027C>T (p.Leu343Phe)
c.490C>T (p.Leu164Phe)
c.769C>T (p.Leu257Phe)
c.-4294966479C>T
c.-4294966200C>T
c.691C>T (p.Leu231Phe)
ClinVar
2g.232533956T>ACA351004877CHRNDc.1073T>A (p.Leu358His)
c.*255T>A (n.*255T>A)
c.*714T>A (n.*714T>A)
c.1028T>A (p.Leu343His)
c.491T>A (p.Leu164His)
c.770T>A (p.Leu257His)
c.-4294966478T>A
c.-4294966199T>A
c.692T>A (p.Leu231His)
2g.232533956T>CCA351004878CHRNDc.1073T>C (p.Leu358Pro)
c.*255T>C (n.*255T>C)
c.*714T>C (n.*714T>C)
c.1028T>C (p.Leu343Pro)
c.491T>C (p.Leu164Pro)
c.770T>C (p.Leu257Pro)
c.-4294966478T>C
c.-4294966199T>C
c.692T>C (p.Leu231Pro)
2g.232533956T>GCA351004879CHRNDc.1073T>G (p.Leu358Arg)
c.*255T>G (n.*255T>G)
c.*714T>G (n.*714T>G)
c.1028T>G (p.Leu343Arg)
c.491T>G (p.Leu164Arg)
c.770T>G (p.Leu257Arg)
c.-4294966478T>G
c.-4294966199T>G
c.692T>G (p.Leu231Arg)
2g.232533957C>ACA431952450CHRNDc.1074C>A (p.Leu358=)
c.*256C>A (n.*256C>A)
c.*715C>A (n.*715C>A)
c.1029C>A (p.Leu343=)
c.492C>A (p.Leu164=)
c.771C>A (p.Leu257=)
c.-4294966477C>A
c.-4294966198C>A
c.693C>A (p.Leu231=)
2g.232533957C>GCA431952451CHRNDc.1074C>G (p.Leu358=)
c.*256C>G (n.*256C>G)
c.*715C>G (n.*715C>G)
c.1029C>G (p.Leu343=)
c.492C>G (p.Leu164=)
c.771C>G (p.Leu257=)
c.-4294966477C>G
c.-4294966198C>G
c.693C>G (p.Leu231=)
2g.232533957C>TCA431952452CHRNDc.1074C>T (p.Leu358=)
c.*256C>T (n.*256C>T)
c.*715C>T (n.*715C>T)
c.1029C>T (p.Leu343=)
c.492C>T (p.Leu164=)
c.771C>T (p.Leu257=)
c.-4294966477C>T
c.-4294966198C>T
c.693C>T (p.Leu231=)
2g.232533958C>ACA351004880CHRNDc.1075C>A (p.Leu359Met)
c.*257C>A (n.*257C>A)
c.*716C>A (n.*716C>A)
c.1030C>A (p.Leu344Met)
c.493C>A (p.Leu165Met)
c.772C>A (p.Leu258Met)
c.-4294966476C>A
c.-4294966197C>A
c.694C>A (p.Leu232Met)
2g.232533958C>GCA351004881CHRNDc.1075C>G (p.Leu359Val)
c.*257C>G (n.*257C>G)
c.*716C>G (n.*716C>G)
c.1030C>G (p.Leu344Val)
c.493C>G (p.Leu165Val)
c.772C>G (p.Leu258Val)
c.-4294966476C>G
c.-4294966197C>G
c.694C>G (p.Leu232Val)
2g.232533958C>TCA431952454CHRNDc.1075C>T (p.Leu359=)
c.*257C>T (n.*257C>T)
c.*716C>T (n.*716C>T)
c.1030C>T (p.Leu344=)
c.493C>T (p.Leu165=)
c.772C>T (p.Leu258=)
c.-4294966476C>T
c.-4294966197C>T
c.694C>T (p.Leu232=)
gnomAD v4
2g.232533959T>ACA351004884CHRNDc.1076T>A (p.Leu359Gln)
c.*258T>A (n.*258T>A)
c.*717T>A (n.*717T>A)
c.1031T>A (p.Leu344Gln)
c.494T>A (p.Leu165Gln)
c.773T>A (p.Leu258Gln)
c.-4294966475T>A
c.-4294966196T>A
c.695T>A (p.Leu232Gln)
2g.232533959T>CCA351004887CHRNDc.1076T>C (p.Leu359Pro)
c.*258T>C (n.*258T>C)
c.*717T>C (n.*717T>C)
c.1031T>C (p.Leu344Pro)
c.494T>C (p.Leu165Pro)
c.773T>C (p.Leu258Pro)
c.-4294966475T>C
c.-4294966196T>C
c.695T>C (p.Leu232Pro)
2g.232533959T>GCA351004890CHRNDc.1076T>G (p.Leu359Arg)
c.*258T>G (n.*258T>G)
c.*717T>G (n.*717T>G)
c.1031T>G (p.Leu344Arg)
c.494T>G (p.Leu165Arg)
c.773T>G (p.Leu258Arg)
c.-4294966475T>G
c.-4294966196T>G
c.695T>G (p.Leu232Arg)
2g.232533960G>ACA431952455CHRNDc.1077G>A (p.Leu359=)
c.*259G>A (n.*259G>A)
c.*718G>A (n.*718G>A)
c.1032G>A (p.Leu344=)
c.495G>A (p.Leu165=)
c.774G>A (p.Leu258=)
c.-4294966474G>A
c.-4294966195G>A
c.696G>A (p.Leu232=)
2g.232533960G>CCA431952456CHRNDc.1077G>C (p.Leu359=)
c.*259G>C (n.*259G>C)
c.*718G>C (n.*718G>C)
c.1032G>C (p.Leu344=)
c.495G>C (p.Leu165=)
c.774G>C (p.Leu258=)
c.-4294966474G>C
c.-4294966195G>C
c.696G>C (p.Leu232=)
2g.232533960G=CA1335313942CHRNDc.1077G= (p.Leu359=)
c.*259G= (n.*259G=)
c.*718G= (n.*718G=)
c.1032G= (p.Leu344=)
c.495G= (p.Leu165=)
c.774G= (p.Leu258=)
c.-4294966474G=
c.-4294966195G=
c.696G= (p.Leu232=)
2g.232533960G>TCA431952457CHRNDc.1077G>T (p.Leu359=)
c.*259G>T (n.*259G>T)
c.*718G>T (n.*718G>T)
c.1032G>T (p.Leu344=)
c.495G>T (p.Leu165=)
c.774G>T (p.Leu258=)
c.-4294966474G>T
c.-4294966195G>T
c.696G>T (p.Leu232=)
dbSNP gnomAD v2
2g.232533961C>ACA351004892CHRNDc.1078C>A (p.His360Asn)
c.*260C>A (n.*260C>A)
c.*719C>A (n.*719C>A)
c.1033C>A (p.His345Asn)
c.496C>A (p.His166Asn)
c.775C>A (p.His259Asn)
c.-4294966473C>A
c.-4294966194C>A
c.697C>A (p.His233Asn)
2g.232533961C>GCA351004895CHRNDc.1078C>G (p.His360Asp)
c.*260C>G (n.*260C>G)
c.*719C>G (n.*719C>G)
c.1033C>G (p.His345Asp)
c.496C>G (p.His166Asp)
c.775C>G (p.His259Asp)
c.-4294966473C>G
c.-4294966194C>G
c.697C>G (p.His233Asp)
2g.232533961C>TCA351004898CHRNDc.1078C>T (p.His360Tyr)
c.*260C>T (n.*260C>T)
c.*719C>T (n.*719C>T)
c.1033C>T (p.His345Tyr)
c.496C>T (p.His166Tyr)
c.775C>T (p.His259Tyr)
c.-4294966473C>T
c.-4294966194C>T
c.697C>T (p.His233Tyr)
COSMIC
2g.232533962A>CCA351004908CHRNDc.1079A>C (p.His360Pro)
c.*261A>C (n.*261A>C)
c.*720A>C (n.*720A>C)
c.1034A>C (p.His345Pro)
c.497A>C (p.His166Pro)
c.776A>C (p.His259Pro)
c.-4294966472A>C
c.-4294966193A>C
c.698A>C (p.His233Pro)
2g.232533962A>GCA351004905CHRNDc.1079A>G (p.His360Arg)
c.*261A>G (n.*261A>G)
c.*720A>G (n.*720A>G)
c.1034A>G (p.His345Arg)
c.497A>G (p.His166Arg)
c.776A>G (p.His259Arg)
c.-4294966472A>G
c.-4294966193A>G
c.698A>G (p.His233Arg)
2g.232533962A>TCA351004901CHRNDc.1079A>T (p.His360Leu)
c.*261A>T (n.*261A>T)
c.*720A>T (n.*720A>T)
c.1034A>T (p.His345Leu)
c.497A>T (p.His166Leu)
c.776A>T (p.His259Leu)
c.-4294966472A>T
c.-4294966193A>T
c.698A>T (p.His233Leu)
2g.232533963C>ACA351004911CHRNDc.1080C>A (p.His360Gln)
c.*262C>A (n.*262C>A)
c.*721C>A (n.*721C>A)
c.1035C>A (p.His345Gln)
c.498C>A (p.His166Gln)
c.777C>A (p.His259Gln)
c.-4294966471C>A
c.-4294966192C>A
c.699C>A (p.His233Gln)
2g.232533963C=CA1335313943CHRNDc.1080C= (p.His360=)
c.*262C= (n.*262C=)
c.*721C= (n.*721C=)
c.1035C= (p.His345=)
c.498C= (p.His166=)
c.777C= (p.His259=)
c.-4294966471C=
c.-4294966192C=
c.699C= (p.His233=)
2g.232533963C>GCA351004913CHRNDc.1080C>G (p.His360Gln)
c.*262C>G (n.*262C>G)
c.*721C>G (n.*721C>G)
c.1035C>G (p.His345Gln)
c.498C>G (p.His166Gln)
c.777C>G (p.His259Gln)
c.-4294966471C>G
c.-4294966192C>G
c.699C>G (p.His233Gln)
2g.232533963C>TCA431952461CHRNDc.1080C>T (p.His360=)
c.*262C>T (n.*262C>T)
c.*721C>T (n.*721C>T)
c.1035C>T (p.His345=)
c.498C>T (p.His166=)
c.777C>T (p.His259=)
c.-4294966471C>T
c.-4294966192C>T
c.699C>T (p.His233=)
dbSNP gnomAD v3 gnomAD v4
2g.232533964A>CCA351004916CHRNDc.1081A>C (p.Met361Leu)
c.*263A>C (n.*263A>C)
c.*722A>C (n.*722A>C)
c.1036A>C (p.Met346Leu)
c.499A>C (p.Met167Leu)
c.778A>C (p.Met260Leu)
c.-4294966470A>C
c.-4294966191A>C
c.700A>C (p.Met234Leu)
2g.232533964A>GCA351004919CHRNDc.1081A>G (p.Met361Val)
c.*263A>G (n.*263A>G)
c.*722A>G (n.*722A>G)
c.1036A>G (p.Met346Val)
c.499A>G (p.Met167Val)
c.778A>G (p.Met260Val)
c.-4294966470A>G
c.-4294966191A>G
c.700A>G (p.Met234Val)
gnomAD v4
2g.232533964A>TCA351004921CHRNDc.1081A>T (p.Met361Leu)
c.*263A>T (n.*263A>T)
c.*722A>T (n.*722A>T)
c.1036A>T (p.Met346Leu)
c.499A>T (p.Met167Leu)
c.778A>T (p.Met260Leu)
c.-4294966470A>T
c.-4294966191A>T
c.700A>T (p.Met234Leu)
2g.232533965T>ACA351004924CHRNDc.1082T>A (p.Met361Lys)
c.*264T>A (n.*264T>A)
c.*723T>A (n.*723T>A)
c.1037T>A (p.Met346Lys)
c.500T>A (p.Met167Lys)
c.779T>A (p.Met260Lys)
c.-4294966469T>A
c.-4294966190T>A
c.701T>A (p.Met234Lys)
2g.232533965T>CCA66957357CHRNDc.1082T>C (p.Met361Thr)
c.*264T>C (n.*264T>C)
c.*723T>C (n.*723T>C)
c.1037T>C (p.Met346Thr)
c.500T>C (p.Met167Thr)
c.779T>C (p.Met260Thr)
c.-4294966469T>C
c.-4294966190T>C
c.701T>C (p.Met234Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232533965T>GCA351004925CHRNDc.1082T>G (p.Met361Arg)
c.*264T>G (n.*264T>G)
c.*723T>G (n.*723T>G)
c.1037T>G (p.Met346Arg)
c.500T>G (p.Met167Arg)
c.779T>G (p.Met260Arg)
c.-4294966469T>G
c.-4294966190T>G
c.701T>G (p.Met234Arg)
gnomAD v4
2g.232533965T=CA1335313944CHRNDc.1082T= (p.Met361=)
c.*264T= (n.*264T=)
c.*723T= (n.*723T=)
c.1037T= (p.Met346=)
c.500T= (p.Met167=)
c.779T= (p.Met260=)
c.-4294966469T=
c.-4294966190T=
c.701T= (p.Met234=)
2g.232533966G>ACA351004928CHRNDc.1083G>A (p.Met361Ile)
c.*265G>A (n.*265G>A)
c.*724G>A (n.*724G>A)
c.1038G>A (p.Met346Ile)
c.501G>A (p.Met167Ile)
c.780G>A (p.Met260Ile)
c.-4294966468G>A
c.-4294966189G>A
c.702G>A (p.Met234Ile)
2g.232533966G>CCA2168260CHRNDc.1083G>C (p.Met361Ile)
c.*265G>C (n.*265G>C)
c.*724G>C (n.*724G>C)
c.1038G>C (p.Met346Ile)
c.501G>C (p.Met167Ile)
c.780G>C (p.Met260Ile)
c.-4294966468G>C
c.-4294966189G>C
c.702G>C (p.Met234Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232533966G=CA1335313945CHRNDc.1083G= (p.Met361=)
c.*265G= (n.*265G=)
c.*724G= (n.*724G=)
c.1038G= (p.Met346=)
c.501G= (p.Met167=)
c.780G= (p.Met260=)
c.-4294966468G=
c.-4294966189G=
c.702G= (p.Met234=)
2g.232533966G>TCA351004929CHRNDc.1083G>T (p.Met361Ile)
c.*265G>T (n.*265G>T)
c.*724G>T (n.*724G>T)
c.1038G>T (p.Met346Ile)
c.501G>T (p.Met167Ile)
c.780G>T (p.Met260Ile)
c.-4294966468G>T
c.-4294966189G>T
c.702G>T (p.Met234Ile)
2g.232533967T>ACA2168261CHRNDc.1084T>A (p.Ser362Thr)
c.*266T>A (n.*266T>A)
c.*725T>A (n.*725T>A)
c.1039T>A (p.Ser347Thr)
c.502T>A (p.Ser168Thr)
c.781T>A (p.Ser261Thr)
c.-4294966467T>A
c.-4294966188T>A
c.703T>A (p.Ser235Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.232533967T>CCA351004930CHRNDc.1084T>C (p.Ser362Pro)
c.*266T>C (n.*266T>C)
c.*725T>C (n.*725T>C)
c.1039T>C (p.Ser347Pro)
c.502T>C (p.Ser168Pro)
c.781T>C (p.Ser261Pro)
c.-4294966467T>C
c.-4294966188T>C
c.703T>C (p.Ser235Pro)
2g.232533967T>GCA351004932CHRNDc.1084T>G (p.Ser362Ala)
c.*266T>G (n.*266T>G)
c.*725T>G (n.*725T>G)
c.1039T>G (p.Ser347Ala)
c.502T>G (p.Ser168Ala)
c.781T>G (p.Ser261Ala)
c.-4294966467T>G
c.-4294966188T>G
c.703T>G (p.Ser235Ala)
2g.232533967T=CA1335313946CHRNDc.1084T= (p.Ser362=)
c.*266T= (n.*266T=)
c.*725T= (n.*725T=)
c.1039T= (p.Ser347=)
c.502T= (p.Ser168=)
c.781T= (p.Ser261=)
c.-4294966467T=
c.-4294966188T=
c.703T= (p.Ser235=)
2g.232533968C>ACA351004939CHRNDc.1085C>A (p.Ser362Tyr)
c.*267C>A (n.*267C>A)
c.*726C>A (n.*726C>A)
c.1040C>A (p.Ser347Tyr)
c.503C>A (p.Ser168Tyr)
c.782C>A (p.Ser261Tyr)
c.-4294966466C>A
c.-4294966187C>A
c.704C>A (p.Ser235Tyr)
2g.232533968C=CA1335313947CHRNDc.1085C= (p.Ser362=)
c.*267C= (n.*267C=)
c.*726C= (n.*726C=)
c.1040C= (p.Ser347=)
c.503C= (p.Ser168=)
c.782C= (p.Ser261=)
c.-4294966466C=
c.-4294966187C=
c.704C= (p.Ser235=)
2g.232533968C>GCA66957373CHRNDc.1085C>G (p.Ser362Cys)
c.*267C>G (n.*267C>G)
c.*726C>G (n.*726C>G)
c.1040C>G (p.Ser347Cys)
c.503C>G (p.Ser168Cys)
c.782C>G (p.Ser261Cys)
c.-4294966466C>G
c.-4294966187C>G
c.704C>G (p.Ser235Cys)
ClinVar dbSNP
2g.232533968C>TCA351004935CHRNDc.1085C>T (p.Ser362Phe)
c.*267C>T (n.*267C>T)
c.*726C>T (n.*726C>T)
c.1040C>T (p.Ser347Phe)
c.503C>T (p.Ser168Phe)
c.782C>T (p.Ser261Phe)
c.-4294966466C>T
c.-4294966187C>T
c.704C>T (p.Ser235Phe)
2g.232533969C>ACA431952468CHRNDc.1086C>A (p.Ser362=)
c.*268C>A (n.*268C>A)
c.*727C>A (n.*727C>A)
c.1041C>A (p.Ser347=)
c.504C>A (p.Ser168=)
c.783C>A (p.Ser261=)
c.-4294966465C>A
c.-4294966186C>A
c.705C>A (p.Ser235=)
2g.232533969C=CA1335313948CHRNDc.1086C= (p.Ser362=)
c.*268C= (n.*268C=)
c.*727C= (n.*727C=)
c.1041C= (p.Ser347=)
c.504C= (p.Ser168=)
c.783C= (p.Ser261=)
c.-4294966465C=
c.-4294966186C=
c.705C= (p.Ser235=)
2g.232533969C>GCA431952467CHRNDc.1086C>G (p.Ser362=)
c.*268C>G (n.*268C>G)
c.*727C>G (n.*727C>G)
c.1041C>G (p.Ser347=)
c.504C>G (p.Ser168=)
c.783C>G (p.Ser261=)
c.-4294966465C>G
c.-4294966186C>G
c.705C>G (p.Ser235=)
2g.232533969C>TCA431952466CHRNDc.1086C>T (p.Ser362=)
c.*268C>T (n.*268C>T)
c.*727C>T (n.*727C>T)
c.1041C>T (p.Ser347=)
c.504C>T (p.Ser168=)
c.783C>T (p.Ser261=)
c.-4294966465C>T
c.-4294966186C>T
c.705C>T (p.Ser235=)
dbSNP gnomAD v2 gnomAD v4
2g.232533970C>ACA351004941CHRNDc.1087C>A (p.Arg363Ser)
c.*269C>A (n.*269C>A)
c.*728C>A (n.*728C>A)
c.1042C>A (p.Arg348Ser)
c.505C>A (p.Arg169Ser)
c.784C>A (p.Arg262Ser)
c.-4294966464C>A
c.-4294966185C>A
c.706C>A (p.Arg236Ser)
2g.232533970C=CA1335313949CHRNDc.1087C= (p.Arg363=)
c.*269C= (n.*269C=)
c.*728C= (n.*728C=)
c.1042C= (p.Arg348=)
c.505C= (p.Arg169=)
c.784C= (p.Arg262=)
c.-4294966464C=
c.-4294966185C=
c.706C= (p.Arg236=)
2g.232533970C>GCA351004943CHRNDc.1087C>G (p.Arg363Gly)
c.*269C>G (n.*269C>G)
c.*728C>G (n.*728C>G)
c.1042C>G (p.Arg348Gly)
c.505C>G (p.Arg169Gly)
c.784C>G (p.Arg262Gly)
c.-4294966464C>G
c.-4294966185C>G
c.706C>G (p.Arg236Gly)
2g.232533970C>TCA351004946CHRNDc.1087C>T (p.Arg363Cys)
c.*269C>T (n.*269C>T)
c.*728C>T (n.*728C>T)
c.1042C>T (p.Arg348Cys)
c.505C>T (p.Arg169Cys)
c.784C>T (p.Arg262Cys)
c.-4294966464C>T
c.-4294966185C>T
c.706C>T (p.Arg236Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232533971G>ACA2168262CHRNDc.1088G>A (p.Arg363His)
c.*270G>A (n.*270G>A)
c.*729G>A (n.*729G>A)
c.1043G>A (p.Arg348His)
c.506G>A (p.Arg169His)
c.785G>A (p.Arg262His)
c.-4294966463G>A
c.-4294966184G>A
c.707G>A (p.Arg236His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.232533971G>CCA351004950CHRNDc.1088G>C (p.Arg363Pro)
c.*270G>C (n.*270G>C)
c.*729G>C (n.*729G>C)
c.1043G>C (p.Arg348Pro)
c.506G>C (p.Arg169Pro)
c.785G>C (p.Arg262Pro)
c.-4294966463G>C
c.-4294966184G>C
c.707G>C (p.Arg236Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.232533971G=CA1335313950CHRNDc.1088G= (p.Arg363=)
c.*270G= (n.*270G=)
c.*729G= (n.*729G=)
c.1043G= (p.Arg348=)
c.506G= (p.Arg169=)
c.785G= (p.Arg262=)
c.-4294966463G=
c.-4294966184G=
c.707G= (p.Arg236=)
2g.232533971G>TCA351004951CHRNDc.1088G>T (p.Arg363Leu)
c.*270G>T (n.*270G>T)
c.*729G>T (n.*729G>T)
c.1043G>T (p.Arg348Leu)
c.506G>T (p.Arg169Leu)
c.785G>T (p.Arg262Leu)
c.-4294966463G>T
c.-4294966184G>T
c.707G>T (p.Arg236Leu)
gnomAD v4
2g.232533972C>ACA431952472CHRNDc.1089C>A (p.Arg363=)
c.*271C>A (n.*271C>A)
c.*730C>A (n.*730C>A)
c.1044C>A (p.Arg348=)
c.507C>A (p.Arg169=)
c.786C>A (p.Arg262=)
c.-4294966462C>A
c.-4294966183C>A
c.708C>A (p.Arg236=)
2g.232533972C>GCA431952471CHRNDc.1089C>G (p.Arg363=)
c.*271C>G (n.*271C>G)
c.*730C>G (n.*730C>G)
c.1044C>G (p.Arg348=)
c.507C>G (p.Arg169=)
c.786C>G (p.Arg262=)
c.-4294966462C>G
c.-4294966183C>G
c.708C>G (p.Arg236=)
2g.232533972C>TCA431952470CHRNDc.1089C>T (p.Arg363=)
c.*271C>T (n.*271C>T)
c.*730C>T (n.*730C>T)
c.1044C>T (p.Arg348=)
c.507C>T (p.Arg169=)
c.786C>T (p.Arg262=)
c.-4294966462C>T
c.-4294966183C>T
c.708C>T (p.Arg236=)
2g.232533973C>ACA351004955CHRNDc.1090C>A (p.Pro364Thr)
c.*272C>A (n.*272C>A)
c.*731C>A (n.*731C>A)
c.1045C>A (p.Pro349Thr)
c.508C>A (p.Pro170Thr)
c.787C>A (p.Pro263Thr)
c.-4294966461C>A
c.-4294966182C>A
c.709C>A (p.Pro237Thr)
2g.232533973C=CA1335313951CHRNDc.1090C= (p.Pro364=)
c.*272C= (n.*272C=)
c.*731C= (n.*731C=)
c.1045C= (p.Pro349=)
c.508C= (p.Pro170=)
c.787C= (p.Pro263=)
c.-4294966461C=
c.-4294966182C=
c.709C= (p.Pro237=)
2g.232533973C>GCA351004957CHRNDc.1090C>G (p.Pro364Ala)
c.*272C>G (n.*272C>G)
c.*731C>G (n.*731C>G)
c.1045C>G (p.Pro349Ala)
c.508C>G (p.Pro170Ala)
c.787C>G (p.Pro263Ala)
c.-4294966461C>G
c.-4294966182C>G
c.709C>G (p.Pro237Ala)
2g.232533973C>TCA351004959CHRNDc.1090C>T (p.Pro364Ser)
c.*272C>T (n.*272C>T)
c.*731C>T (n.*731C>T)
c.1045C>T (p.Pro349Ser)
c.508C>T (p.Pro170Ser)
c.787C>T (p.Pro263Ser)
c.-4294966461C>T
c.-4294966182C>T
c.709C>T (p.Pro237Ser)
dbSNP
2g.232533974C>ACA351004963CHRNDc.1091C>A (p.Pro364Gln)
c.*273C>A (n.*273C>A)
c.*732C>A (n.*732C>A)
c.1046C>A (p.Pro349Gln)
c.509C>A (p.Pro170Gln)
c.788C>A (p.Pro263Gln)
c.-4294966460C>A
c.-4294966181C>A
c.710C>A (p.Pro237Gln)
2g.232533974C>GCA351004965CHRNDc.1091C>G (p.Pro364Arg)
c.*273C>G (n.*273C>G)
c.*732C>G (n.*732C>G)
c.1046C>G (p.Pro349Arg)
c.509C>G (p.Pro170Arg)
c.788C>G (p.Pro263Arg)
c.-4294966460C>G
c.-4294966181C>G
c.710C>G (p.Pro237Arg)
2g.232533974C>TCA351004967CHRNDc.1091C>T (p.Pro364Leu)
c.*273C>T (n.*273C>T)
c.*732C>T (n.*732C>T)
c.1046C>T (p.Pro349Leu)
c.509C>T (p.Pro170Leu)
c.788C>T (p.Pro263Leu)
c.-4294966460C>T
c.-4294966181C>T
c.710C>T (p.Pro237Leu)
gnomAD v4
2g.232533975A>CCA431952475CHRNDc.1092A>C (p.Pro364=)
c.*274A>C (n.*274A>C)
c.*733A>C (n.*733A>C)
c.1047A>C (p.Pro349=)
c.510A>C (p.Pro170=)
c.789A>C (p.Pro263=)
c.-4294966459A>C
c.-4294966180A>C
c.711A>C (p.Pro237=)
2g.232533975A>GCA431952478CHRNDc.1092A>G (p.Pro364=)
c.*274A>G (n.*274A>G)
c.*733A>G (n.*733A>G)
c.1047A>G (p.Pro349=)
c.510A>G (p.Pro170=)
c.789A>G (p.Pro263=)
c.-4294966459A>G
c.-4294966180A>G
c.711A>G (p.Pro237=)
gnomAD v4
2g.232533975A>TCA431952476CHRNDc.1092A>T (p.Pro364=)
c.*274A>T (n.*274A>T)
c.*733A>T (n.*733A>T)
c.1047A>T (p.Pro349=)
c.510A>T (p.Pro170=)
c.789A>T (p.Pro263=)
c.-4294966459A>T
c.-4294966180A>T
c.711A>T (p.Pro237=)
2g.232533976G>ACA351004974CHRNDc.1093G>A (p.Ala365Thr)
c.*275G>A (n.*275G>A)
c.*734G>A (n.*734G>A)
c.1048G>A (p.Ala350Thr)
c.511G>A (p.Ala171Thr)
c.790G>A (p.Ala264Thr)
c.-4294966458G>A
c.-4294966179G>A
c.712G>A (p.Ala238Thr)
2g.232533976G>CCA351004972CHRNDc.1093G>C (p.Ala365Pro)
c.*275G>C (n.*275G>C)
c.*734G>C (n.*734G>C)
c.1048G>C (p.Ala350Pro)
c.511G>C (p.Ala171Pro)
c.790G>C (p.Ala264Pro)
c.-4294966458G>C
c.-4294966179G>C
c.712G>C (p.Ala238Pro)
2g.232533976G>TCA351004970CHRNDc.1093G>T (p.Ala365Ser)
c.*275G>T (n.*275G>T)
c.*734G>T (n.*734G>T)
c.1048G>T (p.Ala350Ser)
c.511G>T (p.Ala171Ser)
c.790G>T (p.Ala264Ser)
c.-4294966458G>T
c.-4294966179G>T
c.712G>T (p.Ala238Ser)
2g.232533977C>ACA351004977CHRNDc.1094C>A (p.Ala365Glu)
c.*276C>A (n.*276C>A)
c.*735C>A (n.*735C>A)
c.1049C>A (p.Ala350Glu)
c.512C>A (p.Ala171Glu)
c.791C>A (p.Ala264Glu)
c.-4294966457C>A
c.-4294966178C>A
c.713C>A (p.Ala238Glu)
2g.232533977C>GCA351004979CHRNDc.1094C>G (p.Ala365Gly)
c.*276C>G (n.*276C>G)
c.*735C>G (n.*735C>G)
c.1049C>G (p.Ala350Gly)
c.512C>G (p.Ala171Gly)
c.791C>G (p.Ala264Gly)
c.-4294966457C>G
c.-4294966178C>G
c.713C>G (p.Ala238Gly)
gnomAD v4
2g.232533977C>TCA351004980CHRNDc.1094C>T (p.Ala365Val)
c.*276C>T (n.*276C>T)
c.*735C>T (n.*735C>T)
c.1049C>T (p.Ala350Val)
c.512C>T (p.Ala171Val)
c.791C>T (p.Ala264Val)
c.-4294966457C>T
c.-4294966178C>T
c.713C>T (p.Ala238Val)
2g.232533977_232533978insCCCA2663623220CHRNDc.1094_1095insCC (p.Glu366GlnfsTer?)
c.*276_*277insCC (n.*276_*277insCC)
c.*735_*736insCC (n.*735_*736insCC)
c.1049_1050insCC (p.Glu351GlnfsTer?)
c.512_513insCC (p.Glu172GlnfsTer?)
c.791_792insCC (p.Glu265GlnfsTer?)
c.-4294966457_-4294966456insCC
c.-4294966178_-4294966177insCC
c.713_714insCC (p.Glu239GlnfsTer?)
gnomAD v4
2g.232533977_232533978delCA645519419CHRNDc.1094_1095del (p.Ala365GlyfsTer?)
c.*276_*277del (n.*276_*277del)
c.*735_*736del (n.*735_*736del)
c.1049_1050del (p.Ala350GlyfsTer?)
c.512_513del (p.Ala171GlyfsTer?)
c.791_792del (p.Ala264GlyfsTer?)
c.-4294966457_-4294966456del
c.-4294966178_-4294966177del
c.713_714del (p.Ala238GlyfsTer?)
COSMIC
2g.232533978A>CCA431952481CHRNDc.1095A>C (p.Ala365=)
c.*277A>C (n.*277A>C)
c.*736A>C (n.*736A>C)
c.1050A>C (p.Ala350=)
c.513A>C (p.Ala171=)
c.792A>C (p.Ala264=)
c.-4294966456A>C
c.-4294966177A>C
c.714A>C (p.Ala238=)
2g.232533978A>GCA431952482CHRNDc.1095A>G (p.Ala365=)
c.*277A>G (n.*277A>G)
c.*736A>G (n.*736A>G)
c.1050A>G (p.Ala350=)
c.513A>G (p.Ala171=)
c.792A>G (p.Ala264=)
c.-4294966456A>G
c.-4294966177A>G
c.714A>G (p.Ala238=)
2g.232533978A>TCA431952483CHRNDc.1095A>T (p.Ala365=)
c.*277A>T (n.*277A>T)
c.*736A>T (n.*736A>T)
c.1050A>T (p.Ala350=)
c.513A>T (p.Ala171=)
c.792A>T (p.Ala264=)
c.-4294966456A>T
c.-4294966177A>T
c.714A>T (p.Ala238=)
2g.232533979G>ACA2168263CHRNDc.1096G>A (p.Glu366Lys)
c.*278G>A (n.*278G>A)
c.*737G>A (n.*737G>A)
c.1051G>A (p.Glu351Lys)
c.514G>A (p.Glu172Lys)
c.793G>A (p.Glu265Lys)
c.-4294966455G>A
c.-4294966176G>A
c.715G>A (p.Glu239Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.232533979G>CCA351004986CHRNDc.1096G>C (p.Glu366Gln)
c.*278G>C (n.*278G>C)
c.*737G>C (n.*737G>C)
c.1051G>C (p.Glu351Gln)
c.514G>C (p.Glu172Gln)
c.793G>C (p.Glu265Gln)
c.-4294966455G>C
c.-4294966176G>C
c.715G>C (p.Glu239Gln)
2g.232533979G=CA1335313952CHRNDc.1096G= (p.Glu366=)
c.*278G= (n.*278G=)
c.*737G= (n.*737G=)
c.1051G= (p.Glu351=)
c.514G= (p.Glu172=)
c.793G= (p.Glu265=)
c.-4294966455G=
c.-4294966176G=
c.715G= (p.Glu239=)
2g.232533979G>TCA351004989CHRNDc.1096G>T (p.Glu366Ter)
c.*278G>T (n.*278G>T)
c.*737G>T (n.*737G>T)
c.1051G>T (p.Glu351Ter)
c.514G>T (p.Glu172Ter)
c.793G>T (p.Glu265Ter)
c.-4294966455G>T
c.-4294966176G>T
c.715G>T (p.Glu239Ter)
2g.232533980A>CCA351004992CHRNDc.1097A>C (p.Glu366Ala)
c.*279A>C (n.*279A>C)
c.*738A>C (n.*738A>C)
c.1052A>C (p.Glu351Ala)
c.515A>C (p.Glu172Ala)
c.794A>C (p.Glu265Ala)
c.-4294966454A>C
c.-4294966175A>C
c.716A>C (p.Glu239Ala)
2g.232533980A>GCA351004994CHRNDc.1097A>G (p.Glu366Gly)
c.*279A>G (n.*279A>G)
c.*738A>G (n.*738A>G)
c.1052A>G (p.Glu351Gly)
c.515A>G (p.Glu172Gly)
c.794A>G (p.Glu265Gly)
c.-4294966454A>G
c.-4294966175A>G
c.716A>G (p.Glu239Gly)
2g.232533980A>TCA351004996CHRNDc.1097A>T (p.Glu366Val)
c.*279A>T (n.*279A>T)
c.*738A>T (n.*738A>T)
c.1052A>T (p.Glu351Val)
c.515A>T (p.Glu172Val)
c.794A>T (p.Glu265Val)
c.-4294966454A>T
c.-4294966175A>T
c.716A>T (p.Glu239Val)
2g.232533981G>ACA2168265CHRNDc.1098G>A (p.Glu366=)
c.*280G>A (n.*280G>A)
c.*739G>A (n.*739G>A)
c.1053G>A (p.Glu351=)
c.516G>A (p.Glu172=)
c.795G>A (p.Glu265=)
c.-4294966453G>A
c.-4294966174G>A
c.717G>A (p.Glu239=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.232533981G>CCA2168264CHRNDc.1098G>C (p.Glu366Asp)
c.*280G>C (n.*280G>C)
c.*739G>C (n.*739G>C)
c.1053G>C (p.Glu351Asp)
c.516G>C (p.Glu172Asp)
c.795G>C (p.Glu265Asp)
c.-4294966453G>C
c.-4294966174G>C
c.717G>C (p.Glu239Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232533981G=CA1335313953CHRNDc.1098G= (p.Glu366=)
c.*280G= (n.*280G=)
c.*739G= (n.*739G=)
c.1053G= (p.Glu351=)
c.516G= (p.Glu172=)
c.795G= (p.Glu265=)
c.-4294966453G=
c.-4294966174G=
c.717G= (p.Glu239=)
2g.232533981G>TCA351005001CHRNDc.1098G>T (p.Glu366Asp)
c.*280G>T (n.*280G>T)
c.*739G>T (n.*739G>T)
c.1053G>T (p.Glu351Asp)
c.516G>T (p.Glu172Asp)
c.795G>T (p.Glu265Asp)
c.-4294966453G>T
c.-4294966174G>T
c.717G>T (p.Glu239Asp)
2g.232533982G>ACA66957403CHRNDc.1099G>A (p.Asp367Asn)
c.*281G>A (n.*281G>A)
c.*740G>A (n.*740G>A)
c.1054G>A (p.Asp352Asn)
c.517G>A (p.Asp173Asn)
c.796G>A (p.Asp266Asn)
c.-4294966452G>A
c.-4294966173G>A
c.718G>A (p.Asp240Asn)
dbSNP gnomAD v2 gnomAD v4
2g.232533982G>CCA351005008CHRNDc.1099G>C (p.Asp367His)
c.*281G>C (n.*281G>C)
c.*740G>C (n.*740G>C)
c.1054G>C (p.Asp352His)
c.517G>C (p.Asp173His)
c.796G>C (p.Asp266His)
c.-4294966452G>C
c.-4294966173G>C
c.718G>C (p.Asp240His)
2g.232533982G=CA1335313954CHRNDc.1099G= (p.Asp367=)
c.*281G= (n.*281G=)
c.*740G= (n.*740G=)
c.1054G= (p.Asp352=)
c.517G= (p.Asp173=)
c.796G= (p.Asp266=)
c.-4294966452G=
c.-4294966173G=
c.718G= (p.Asp240=)
2g.232533982G>TCA351005004CHRNDc.1099G>T (p.Asp367Tyr)
c.*281G>T (n.*281G>T)
c.*740G>T (n.*740G>T)
c.1054G>T (p.Asp352Tyr)
c.517G>T (p.Asp173Tyr)
c.796G>T (p.Asp266Tyr)
c.-4294966452G>T
c.-4294966173G>T
c.718G>T (p.Asp240Tyr)
2g.232533983A=CA1335313955CHRNDc.1100A= (p.Asp367=)
c.*282A= (n.*282A=)
c.*741A= (n.*741A=)
c.1055A= (p.Asp352=)
c.518A= (p.Asp173=)
c.797A= (p.Asp266=)
c.-4294966451A=
c.-4294966172A=
c.719A= (p.Asp240=)
2g.232533983A>CCA351005011CHRNDc.1100A>C (p.Asp367Ala)
c.*282A>C (n.*282A>C)
c.*741A>C (n.*741A>C)
c.1055A>C (p.Asp352Ala)
c.518A>C (p.Asp173Ala)
c.797A>C (p.Asp266Ala)
c.-4294966451A>C
c.-4294966172A>C
c.719A>C (p.Asp240Ala)
2g.232533983A>GCA2168266CHRNDc.1100A>G (p.Asp367Gly)
c.*282A>G (n.*282A>G)
c.*741A>G (n.*741A>G)
c.1055A>G (p.Asp352Gly)
c.518A>G (p.Asp173Gly)
c.797A>G (p.Asp266Gly)
c.-4294966451A>G
c.-4294966172A>G
c.719A>G (p.Asp240Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.232533983A>TCA351005014CHRNDc.1100A>T (p.Asp367Val)
c.*282A>T (n.*282A>T)
c.*741A>T (n.*741A>T)
c.1055A>T (p.Asp352Val)
c.518A>T (p.Asp173Val)
c.797A>T (p.Asp266Val)
c.-4294966451A>T
c.-4294966172A>T
c.719A>T (p.Asp240Val)
2g.232533984T>ACA351005017CHRNDc.1101T>A (p.Asp367Glu)
c.*283T>A (n.*283T>A)
c.*742T>A (n.*742T>A)
c.1056T>A (p.Asp352Glu)
c.519T>A (p.Asp173Glu)
c.798T>A (p.Asp266Glu)
c.-4294966450T>A
c.-4294966171T>A
c.720T>A (p.Asp240Glu)
2g.232533984T>CCA2168267CHRNDc.1101T>C (p.Asp367=)
c.*283T>C (n.*283T>C)
c.*742T>C (n.*742T>C)
c.1056T>C (p.Asp352=)
c.519T>C (p.Asp173=)
c.798T>C (p.Asp266=)
c.-4294966450T>C
c.-4294966171T>C
c.720T>C (p.Asp240=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232533984T>GCA351005021CHRNDc.1101T>G (p.Asp367Glu)
c.*283T>G (n.*283T>G)
c.*742T>G (n.*742T>G)
c.1056T>G (p.Asp352Glu)
c.519T>G (p.Asp173Glu)
c.798T>G (p.Asp266Glu)
c.-4294966450T>G
c.-4294966171T>G
c.720T>G (p.Asp240Glu)
2g.232533984T=CA1335313956CHRNDc.1101T= (p.Asp367=)
c.*283T= (n.*283T=)
c.*742T= (n.*742T=)
c.1056T= (p.Asp352=)
c.519T= (p.Asp173=)
c.798T= (p.Asp266=)
c.-4294966450T=
c.-4294966171T=
c.720T= (p.Asp240=)
2g.232533985G>ACA351005025CHRNDc.1102G>A (p.Gly368Arg)
c.*284G>A (n.*284G>A)
c.*743G>A (n.*743G>A)
c.1057G>A (p.Gly353Arg)
c.520G>A (p.Gly174Arg)
c.799G>A (p.Gly267Arg)
c.-4294966449G>A
c.-4294966170G>A
c.721G>A (p.Gly241Arg)
2g.232533985G>CCA351005031CHRNDc.1102G>C (p.Gly368Arg)
c.*284G>C (n.*284G>C)
c.*743G>C (n.*743G>C)
c.1057G>C (p.Gly353Arg)
c.520G>C (p.Gly174Arg)
c.799G>C (p.Gly267Arg)
c.-4294966449G>C
c.-4294966170G>C
c.721G>C (p.Gly241Arg)
2g.232533985G>TCA351005028CHRNDc.1102G>T (p.Gly368Ter)
c.*284G>T (n.*284G>T)
c.*743G>T (n.*743G>T)
c.1057G>T (p.Gly353Ter)
c.520G>T (p.Gly174Ter)
c.799G>T (p.Gly267Ter)
c.-4294966449G>T
c.-4294966170G>T
c.721G>T (p.Gly241Ter)
2g.232533986G>ACA66957416CHRNDc.1103G>A (p.Gly368Glu)
c.*285G>A (n.*285G>A)
c.*744G>A (n.*744G>A)
c.1058G>A (p.Gly353Glu)
c.521G>A (p.Gly174Glu)
c.800G>A (p.Gly267Glu)
c.-4294966448G>A
c.-4294966169G>A
c.722G>A (p.Gly241Glu)
dbSNP
2g.232533986G>CCA351005035CHRNDc.1103G>C (p.Gly368Ala)
c.*285G>C (n.*285G>C)
c.*744G>C (n.*744G>C)
c.1058G>C (p.Gly353Ala)
c.521G>C (p.Gly174Ala)
c.800G>C (p.Gly267Ala)
c.-4294966448G>C
c.-4294966169G>C
c.722G>C (p.Gly241Ala)
2g.232533986G=CA1335313957CHRNDc.1103G= (p.Gly368=)
c.*285G= (n.*285G=)
c.*744G= (n.*744G=)
c.1058G= (p.Gly353=)
c.521G= (p.Gly174=)
c.800G= (p.Gly267=)
c.-4294966448G=
c.-4294966169G=
c.722G= (p.Gly241=)
2g.232533986G>TCA351005037CHRNDc.1103G>T (p.Gly368Val)
c.*285G>T (n.*285G>T)
c.*744G>T (n.*744G>T)
c.1058G>T (p.Gly353Val)
c.521G>T (p.Gly174Val)
c.800G>T (p.Gly267Val)
c.-4294966448G>T
c.-4294966169G>T
c.722G>T (p.Gly241Val)
2g.232533987A=CA1335313958CHRNDc.1104A= (p.Gly368=)
c.*286A= (n.*286A=)
c.*745A= (n.*745A=)
c.1059A= (p.Gly353=)
c.522A= (p.Gly174=)
c.801A= (p.Gly267=)
c.-4294966447A=
c.-4294966168A=
c.723A= (p.Gly241=)
2g.232533987A>CCA431952488CHRNDc.1104A>C (p.Gly368=)
c.*286A>C (n.*286A>C)
c.*745A>C (n.*745A>C)
c.1059A>C (p.Gly353=)
c.522A>C (p.Gly174=)
c.801A>C (p.Gly267=)
c.-4294966447A>C
c.-4294966168A>C
c.723A>C (p.Gly241=)
dbSNP
2g.232533987A>GCA239147CHRNDc.1104A>G (p.Gly368=)
c.*286A>G (n.*286A>G)
c.*745A>G (n.*745A>G)
c.1059A>G (p.Gly353=)
c.522A>G (p.Gly174=)
c.801A>G (p.Gly267=)
c.-4294966447A>G
c.-4294966168A>G
c.723A>G (p.Gly241=)
ClinVar dbSNP
2g.232533987A>TCA431952489CHRNDc.1104A>T (p.Gly368=)
c.*286A>T (n.*286A>T)
c.*745A>T (n.*745A>T)
c.1059A>T (p.Gly353=)
c.522A>T (p.Gly174=)
c.801A>T (p.Gly267=)
c.-4294966447A>T
c.-4294966168A>T
c.723A>T (p.Gly241=)
dbSNP gnomAD v4
2g.232533987_232533988delinsACCA1335313959CHRNDc.1104_1105delinsAC (p.Gly368=)
c.*286_*287delinsAC (n.*286_*287delinsAC)
c.*745_*746delinsAC (n.*745_*746delinsAC)
c.1059_1060delinsAC (p.Gly353=)
c.522_523delinsAC (p.Gly174=)
c.801_802delinsAC (p.Gly267=)
c.-4294966447_-4294966446delinsAC
c.-4294966168_-4294966167delinsAC
c.723_724delinsAC (p.Gly241=)
2g.232533988C>ACA351005038CHRNDc.1105C>A (p.Pro369Thr)
c.*287C>A (n.*287C>A)
c.*746C>A (n.*746C>A)
c.1060C>A (p.Pro354Thr)
c.523C>A (p.Pro175Thr)
c.802C>A (p.Pro268Thr)
c.-4294966446C>A
c.-4294966167C>A
c.724C>A (p.Pro242Thr)
2g.232533988C=CA1335313960CHRNDc.1105C= (p.Pro369=)
c.*287C= (n.*287C=)
c.*746C= (n.*746C=)
c.1060C= (p.Pro354=)
c.523C= (p.Pro175=)
c.802C= (p.Pro268=)
c.-4294966446C=
c.-4294966167C=
c.724C= (p.Pro242=)
2g.232533988C>GCA351005039CHRNDc.1105C>G (p.Pro369Ala)
c.*287C>G (n.*287C>G)
c.*746C>G (n.*746C>G)
c.1060C>G (p.Pro354Ala)
c.523C>G (p.Pro175Ala)
c.802C>G (p.Pro268Ala)
c.-4294966446C>G
c.-4294966167C>G
c.724C>G (p.Pro242Ala)
2g.232533988C>TCA200681CHRNDc.1105C>T (p.Pro369Ser)
c.*287C>T (n.*287C>T)
c.*746C>T (n.*746C>T)
c.1060C>T (p.Pro354Ser)
c.523C>T (p.Pro175Ser)
c.802C>T (p.Pro268Ser)
c.-4294966446C>T
c.-4294966167C>T
c.724C>T (p.Pro242Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232533990delCA540309812CHRNDc.1107del (p.Ser370AlafsTer?)
c.*289del (n.*289del)
c.*748del (n.*748del)
c.1062del (p.Ser355AlafsTer?)
c.525del (p.Ser176AlafsTer?)
c.804del (p.Ser269AlafsTer?)
c.-4294966444del
c.-4294966165del
c.726del (p.Ser243AlafsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.232533989C>ACA351005040CHRNDc.1106C>A (p.Pro369His)
c.*288C>A (n.*288C>A)
c.*747C>A (n.*747C>A)
c.1061C>A (p.Pro354His)
c.524C>A (p.Pro175His)
c.803C>A (p.Pro268His)
c.-4294966445C>A
c.-4294966166C>A
c.725C>A (p.Pro242His)
2g.232533989C=CA1335313961CHRNDc.1106C= (p.Pro369=)
c.*288C= (n.*288C=)
c.*747C= (n.*747C=)
c.1061C= (p.Pro354=)
c.524C= (p.Pro175=)
c.803C= (p.Pro268=)
c.-4294966445C=
c.-4294966166C=
c.725C= (p.Pro242=)
2g.232533989C>GCA351005042CHRNDc.1106C>G (p.Pro369Arg)
c.*288C>G (n.*288C>G)
c.*747C>G (n.*747C>G)
c.1061C>G (p.Pro354Arg)
c.524C>G (p.Pro175Arg)
c.803C>G (p.Pro268Arg)
c.-4294966445C>G
c.-4294966166C>G
c.725C>G (p.Pro242Arg)
ClinVar dbSNP
2g.232533989C>TCA351005041CHRNDc.1106C>T (p.Pro369Leu)
c.*288C>T (n.*288C>T)
c.*747C>T (n.*747C>T)
c.1061C>T (p.Pro354Leu)
c.524C>T (p.Pro175Leu)
c.803C>T (p.Pro268Leu)
c.-4294966445C>T
c.-4294966166C>T
c.725C>T (p.Pro242Leu)
2g.232533990C>ACA431952491CHRNDc.1107C>A (p.Pro369=)
c.*289C>A (n.*289C>A)
c.*748C>A (n.*748C>A)
c.1062C>A (p.Pro354=)
c.525C>A (p.Pro175=)
c.804C>A (p.Pro268=)
c.-4294966444C>A
c.-4294966165C>A
c.726C>A (p.Pro242=)
2g.232533990C=CA1335313962CHRNDc.1107C= (p.Pro369=)
c.*289C= (n.*289C=)
c.*748C= (n.*748C=)
c.1062C= (p.Pro354=)
c.525C= (p.Pro175=)
c.804C= (p.Pro268=)
c.-4294966444C=
c.-4294966165C=
c.726C= (p.Pro242=)
2g.232533990C>GCA431952492CHRNDc.1107C>G (p.Pro369=)
c.*289C>G (n.*289C>G)
c.*748C>G (n.*748C>G)
c.1062C>G (p.Pro354=)
c.525C>G (p.Pro175=)
c.804C>G (p.Pro268=)
c.-4294966444C>G
c.-4294966165C>G
c.726C>G (p.Pro242=)
2g.232533990C>TCA2168268CHRNDc.1107C>T (p.Pro369=)
c.*289C>T (n.*289C>T)
c.*748C>T (n.*748C>T)
c.1062C>T (p.Pro354=)
c.525C>T (p.Pro175=)
c.804C>T (p.Pro268=)
c.-4294966444C>T
c.-4294966165C>T
c.726C>T (p.Pro242=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.232533991A>CCA351005044CHRNDc.1108A>C (p.Ser370Arg)
c.*290A>C (n.*290A>C)
c.*749A>C (n.*749A>C)
c.1063A>C (p.Ser355Arg)
c.526A>C (p.Ser176Arg)
c.805A>C (p.Ser269Arg)
c.-4294966443A>C
c.-4294966164A>C
c.727A>C (p.Ser243Arg)
2g.232533991A>GCA351005043CHRNDc.1108A>G (p.Ser370Gly)
c.*290A>G (n.*290A>G)
c.*749A>G (n.*749A>G)
c.1063A>G (p.Ser355Gly)
c.526A>G (p.Ser176Gly)
c.805A>G (p.Ser269Gly)
c.-4294966443A>G
c.-4294966164A>G
c.727A>G (p.Ser243Gly)
2g.232533991A>TCA351005045CHRNDc.1108A>T (p.Ser370Cys)
c.*290A>T (n.*290A>T)
c.*749A>T (n.*749A>T)
c.1063A>T (p.Ser355Cys)
c.526A>T (p.Ser176Cys)
c.805A>T (p.Ser269Cys)
c.-4294966443A>T
c.-4294966164A>T
c.727A>T (p.Ser243Cys)
2g.232533992G>ACA351005046CHRNDc.1109G>A (p.Ser370Asn)
c.*291G>A (n.*291G>A)
c.*750G>A (n.*750G>A)
c.1064G>A (p.Ser355Asn)
c.527G>A (p.Ser176Asn)
c.806G>A (p.Ser269Asn)
c.-4294966442G>A
c.-4294966163G>A
c.728G>A (p.Ser243Asn)
2g.232533992G>CCA351005048CHRNDc.1109G>C (p.Ser370Thr)
c.*291G>C (n.*291G>C)
c.*750G>C (n.*750G>C)
c.1064G>C (p.Ser355Thr)
c.527G>C (p.Ser176Thr)
c.806G>C (p.Ser269Thr)
c.-4294966442G>C
c.-4294966163G>C
c.728G>C (p.Ser243Thr)
dbSNP gnomAD v2 gnomAD v4
2g.232533992G=CA1335313963CHRNDc.1109G= (p.Ser370=)
c.*291G= (n.*291G=)
c.*750G= (n.*750G=)
c.1064G= (p.Ser355=)
c.527G= (p.Ser176=)
c.806G= (p.Ser269=)
c.-4294966442G=
c.-4294966163G=
c.728G= (p.Ser243=)
2g.232533992G>TCA351005047CHRNDc.1109G>T (p.Ser370Ile)
c.*291G>T (n.*291G>T)
c.*750G>T (n.*750G>T)
c.1064G>T (p.Ser355Ile)
c.527G>T (p.Ser176Ile)
c.806G>T (p.Ser269Ile)
c.-4294966442G>T
c.-4294966163G>T
c.728G>T (p.Ser243Ile)
2g.232533993C>ACA351005049CHRNDc.1110C>A (p.Ser370Arg)
c.*292C>A (n.*292C>A)
c.*751C>A (n.*751C>A)
c.1065C>A (p.Ser355Arg)
c.528C>A (p.Ser176Arg)
c.807C>A (p.Ser269Arg)
c.-4294966441C>A
c.-4294966162C>A
c.729C>A (p.Ser243Arg)
2g.232533993C>GCA351005050CHRNDc.1110C>G (p.Ser370Arg)
c.*292C>G (n.*292C>G)
c.*751C>G (n.*751C>G)
c.1065C>G (p.Ser355Arg)
c.528C>G (p.Ser176Arg)
c.807C>G (p.Ser269Arg)
c.-4294966441C>G
c.-4294966162C>G
c.729C>G (p.Ser243Arg)
2g.232533993C>TCA431952494CHRNDc.1110C>T (p.Ser370=)
c.*292C>T (n.*292C>T)
c.*751C>T (n.*751C>T)
c.1065C>T (p.Ser355=)
c.528C>T (p.Ser176=)
c.807C>T (p.Ser269=)
c.-4294966441C>T
c.-4294966162C>T
c.729C>T (p.Ser243=)
2g.232533994C>ACA351005051CHRNDc.1111C>A (p.Pro371Thr)
c.*293C>A (n.*293C>A)
c.*752C>A (n.*752C>A)
c.1066C>A (p.Pro356Thr)
c.529C>A (p.Pro177Thr)
c.808C>A (p.Pro270Thr)
c.-4294966440C>A
c.-4294966161C>A
c.730C>A (p.Pro244Thr)
2g.232533994C>GCA351005052CHRNDc.1111C>G (p.Pro371Ala)
c.*293C>G (n.*293C>G)
c.*752C>G (n.*752C>G)
c.1066C>G (p.Pro356Ala)
c.529C>G (p.Pro177Ala)
c.808C>G (p.Pro270Ala)
c.-4294966440C>G
c.-4294966161C>G
c.730C>G (p.Pro244Ala)
2g.232533994C>TCA351005053CHRNDc.1111C>T (p.Pro371Ser)
c.*293C>T (n.*293C>T)
c.*752C>T (n.*752C>T)
c.1066C>T (p.Pro356Ser)
c.529C>T (p.Pro177Ser)
c.808C>T (p.Pro270Ser)
c.-4294966440C>T
c.-4294966161C>T
c.730C>T (p.Pro244Ser)
2g.232533995C>ACA351005056CHRNDc.1112C>A (p.Pro371His)
c.*294C>A (n.*294C>A)
c.*753C>A (n.*753C>A)
c.1067C>A (p.Pro356His)
c.530C>A (p.Pro177His)
c.809C>A (p.Pro270His)
c.-4294966439C>A
c.-4294966160C>A
c.731C>A (p.Pro244His)
2g.232533995C>GCA351005055CHRNDc.1112C>G (p.Pro371Arg)
c.*294C>G (n.*294C>G)
c.*753C>G (n.*753C>G)
c.1067C>G (p.Pro356Arg)
c.530C>G (p.Pro177Arg)
c.809C>G (p.Pro270Arg)
c.-4294966439C>G
c.-4294966160C>G
c.731C>G (p.Pro244Arg)
2g.232533995C>TCA351005054CHRNDc.1112C>T (p.Pro371Leu)
c.*294C>T (n.*294C>T)
c.*753C>T (n.*753C>T)
c.1067C>T (p.Pro356Leu)
c.530C>T (p.Pro177Leu)
c.809C>T (p.Pro270Leu)
c.-4294966439C>T
c.-4294966160C>T
c.731C>T (p.Pro244Leu)
2g.232533996T>ACA431952495CHRNDc.1113T>A (p.Pro371=)
c.*295T>A (n.*295T>A)
c.*754T>A (n.*754T>A)
c.1068T>A (p.Pro356=)
c.531T>A (p.Pro177=)
c.810T>A (p.Pro270=)
c.-4294966438T>A
c.-4294966159T>A
c.732T>A (p.Pro244=)
2g.232533996T>CCA431952497CHRNDc.1113T>C (p.Pro371=)
c.*295T>C (n.*295T>C)
c.*754T>C (n.*754T>C)
c.1068T>C (p.Pro356=)
c.531T>C (p.Pro177=)
c.810T>C (p.Pro270=)
c.-4294966438T>C
c.-4294966159T>C
c.732T>C (p.Pro244=)
2g.232533996T>GCA431952496CHRNDc.1113T>G (p.Pro371=)
c.*295T>G (n.*295T>G)
c.*754T>G (n.*754T>G)
c.1068T>G (p.Pro356=)
c.531T>G (p.Pro177=)
c.810T>G (p.Pro270=)
c.-4294966438T>G
c.-4294966159T>G
c.732T>G (p.Pro244=)
2g.232533997G>ACA351005057CHRNDc.1114G>A (p.Gly372Arg)
c.*296G>A (n.*296G>A)
c.*755G>A (n.*755G>A)
c.1069G>A (p.Gly357Arg)
c.532G>A (p.Gly178Arg)
c.811G>A (p.Gly271Arg)
c.-4294966437G>A
c.-4294966158G>A
c.733G>A (p.Gly245Arg)
dbSNP gnomAD v2 gnomAD v4
2g.232533997G>CCA351005058CHRNDc.1114G>C (p.Gly372Arg)
c.*296G>C (n.*296G>C)
c.*755G>C (n.*755G>C)
c.1069G>C (p.Gly357Arg)
c.532G>C (p.Gly178Arg)
c.811G>C (p.Gly271Arg)
c.-4294966437G>C
c.-4294966158G>C
c.733G>C (p.Gly245Arg)
2g.232533997G=CA1335313964CHRNDc.1114G= (p.Gly372=)
c.*296G= (n.*296G=)
c.*755G= (n.*755G=)
c.1069G= (p.Gly357=)
c.532G= (p.Gly178=)
c.811G= (p.Gly271=)
c.-4294966437G=
c.-4294966158G=
c.733G= (p.Gly245=)
2g.232533997G>TCA351005059CHRNDc.1114G>T (p.Gly372Trp)
c.*296G>T (n.*296G>T)
c.*755G>T (n.*755G>T)
c.1069G>T (p.Gly357Trp)
c.532G>T (p.Gly178Trp)
c.811G>T (p.Gly271Trp)
c.-4294966437G>T
c.-4294966158G>T
c.733G>T (p.Gly245Trp)
2g.232533998G>ACA351005060CHRNDc.1115G>A (p.Gly372Glu)
c.*297G>A (n.*297G>A)
c.*756G>A (n.*756G>A)
c.1070G>A (p.Gly357Glu)
c.533G>A (p.Gly178Glu)
c.812G>A (p.Gly271Glu)
c.-4294966436G>A
c.-4294966157G>A
c.734G>A (p.Gly245Glu)
gnomAD v4
2g.232533998G>CCA351005061CHRNDc.1115G>C (p.Gly372Ala)
c.*297G>C (n.*297G>C)
c.*756G>C (n.*756G>C)
c.1070G>C (p.Gly357Ala)
c.533G>C (p.Gly178Ala)
c.812G>C (p.Gly271Ala)
c.-4294966436G>C
c.-4294966157G>C
c.734G>C (p.Gly245Ala)
gnomAD v4
2g.232533998G>TCA351005062CHRNDc.1115G>T (p.Gly372Val)
c.*297G>T (n.*297G>T)
c.*756G>T (n.*756G>T)
c.1070G>T (p.Gly357Val)
c.533G>T (p.Gly178Val)
c.812G>T (p.Gly271Val)
c.-4294966436G>T
c.-4294966157G>T
c.734G>T (p.Gly245Val)
gnomAD v4
2g.232533999G>ACA431952500CHRNDc.1116G>A (p.Gly372=)
c.*298G>A (n.*298G>A)
c.*757G>A (n.*757G>A)
c.1071G>A (p.Gly357=)
c.534G>A (p.Gly178=)
c.813G>A (p.Gly271=)
c.-4294966435G>A
c.-4294966156G>A
c.735G>A (p.Gly245=)
dbSNP gnomAD v3 gnomAD v4
2g.232533999G>CCA431952501CHRNDc.1116G>C (p.Gly372=)
c.*298G>C (n.*298G>C)
c.*757G>C (n.*757G>C)
c.1071G>C (p.Gly357=)
c.534G>C (p.Gly178=)
c.813G>C (p.Gly271=)
c.-4294966435G>C
c.-4294966156G>C
c.735G>C (p.Gly245=)
dbSNP gnomAD v3 gnomAD v4
2g.232533999G=CA1335313965CHRNDc.1116G= (p.Gly372=)
c.*298G= (n.*298G=)
c.*757G= (n.*757G=)
c.1071G= (p.Gly357=)
c.534G= (p.Gly178=)
c.813G= (p.Gly271=)
c.-4294966435G=
c.-4294966156G=
c.735G= (p.Gly245=)
2g.232533999G>TCA431952502CHRNDc.1116G>T (p.Gly372=)
c.*298G>T (n.*298G>T)
c.*757G>T (n.*757G>T)
c.1071G>T (p.Gly357=)
c.534G>T (p.Gly178=)
c.813G>T (p.Gly271=)
c.-4294966435G>T
c.-4294966156G>T
c.735G>T (p.Gly245=)
2g.232534000G>ACA351005063CHRNDc.1117G>A (p.Ala373Thr)
c.*299G>A (n.*299G>A)
c.*758G>A (n.*758G>A)
c.1072G>A (p.Ala358Thr)
c.535G>A (p.Ala179Thr)
c.814G>A (p.Ala272Thr)
c.-4294966434G>A
c.-4294966155G>A
c.736G>A (p.Ala246Thr)
2g.232534000G>CCA351005065CHRNDc.1117G>C (p.Ala373Pro)
c.*299G>C (n.*299G>C)
c.*758G>C (n.*758G>C)
c.1072G>C (p.Ala358Pro)
c.535G>C (p.Ala179Pro)
c.814G>C (p.Ala272Pro)
c.-4294966434G>C
c.-4294966155G>C
c.736G>C (p.Ala246Pro)
2g.232534000G>TCA351005064CHRNDc.1117G>T (p.Ala373Ser)
c.*299G>T (n.*299G>T)
c.*758G>T (n.*758G>T)
c.1072G>T (p.Ala358Ser)
c.535G>T (p.Ala179Ser)
c.814G>T (p.Ala272Ser)
c.-4294966434G>T
c.-4294966155G>T
c.736G>T (p.Ala246Ser)
2g.232534001C>ACA351005066CHRNDc.1118C>A (p.Ala373Asp)
c.*300C>A (n.*300C>A)
c.*759C>A (n.*759C>A)
c.1073C>A (p.Ala358Asp)
c.536C>A (p.Ala179Asp)
c.815C>A (p.Ala272Asp)
c.-4294966433C>A
c.-4294966154C>A
c.737C>A (p.Ala246Asp)
2g.232534001C=CA1335313966CHRNDc.1118C= (p.Ala373=)
c.*300C= (n.*300C=)
c.*759C= (n.*759C=)
c.1073C= (p.Ala358=)
c.536C= (p.Ala179=)
c.815C= (p.Ala272=)
c.-4294966433C=
c.-4294966154C=
c.737C= (p.Ala246=)
2g.232534001C>GCA351005067CHRNDc.1118C>G (p.Ala373Gly)
c.*300C>G (n.*300C>G)
c.*759C>G (n.*759C>G)
c.1073C>G (p.Ala358Gly)
c.536C>G (p.Ala179Gly)
c.815C>G (p.Ala272Gly)
c.-4294966433C>G
c.-4294966154C>G
c.737C>G (p.Ala246Gly)
2g.232534001C>TCA351005068CHRNDc.1118C>T (p.Ala373Val)
c.*300C>T (n.*300C>T)
c.*759C>T (n.*759C>T)
c.1073C>T (p.Ala358Val)
c.536C>T (p.Ala179Val)
c.815C>T (p.Ala272Val)
c.-4294966433C>T
c.-4294966154C>T
c.737C>T (p.Ala246Val)
dbSNP
2g.232534002C>ACA431952504CHRNDc.1119C>A (p.Ala373=)
c.*301C>A (n.*301C>A)
c.*760C>A (n.*760C>A)
c.1074C>A (p.Ala358=)
c.537C>A (p.Ala179=)
c.816C>A (p.Ala272=)
c.-4294966432C>A
c.-4294966153C>A
c.738C>A (p.Ala246=)
2g.232534002C>GCA431952505CHRNDc.1119C>G (p.Ala373=)
c.*301C>G (n.*301C>G)
c.*760C>G (n.*760C>G)
c.1074C>G (p.Ala358=)
c.537C>G (p.Ala179=)
c.816C>G (p.Ala272=)
c.-4294966432C>G
c.-4294966153C>G
c.738C>G (p.Ala246=)
2g.232534002C>TCA431952506CHRNDc.1119C>T (p.Ala373=)
c.*301C>T (n.*301C>T)
c.*760C>T (n.*760C>T)
c.1074C>T (p.Ala358=)
c.537C>T (p.Ala179=)
c.816C>T (p.Ala272=)
c.-4294966432C>T
c.-4294966153C>T
c.738C>T (p.Ala246=)
2g.232534003C>ACA351005069CHRNDc.1120C>A (p.Leu374Met)
c.*302C>A (n.*302C>A)
c.*761C>A (n.*761C>A)
c.1075C>A (p.Leu359Met)
c.538C>A (p.Leu180Met)
c.817C>A (p.Leu273Met)
c.-4294966431C>A
c.-4294966152C>A
c.739C>A (p.Leu247Met)
dbSNP gnomAD v4
2g.232534003C>GCA351005070CHRNDc.1120C>G (p.Leu374Val)
c.*302C>G (n.*302C>G)
c.*761C>G (n.*761C>G)
c.1075C>G (p.Leu359Val)
c.538C>G (p.Leu180Val)
c.817C>G (p.Leu273Val)
c.-4294966431C>G
c.-4294966152C>G
c.739C>G (p.Leu247Val)
2g.232534003C>TCA431952507CHRNDc.1120C>T (p.Leu374=)
c.*302C>T (n.*302C>T)
c.*761C>T (n.*761C>T)
c.1075C>T (p.Leu359=)
c.538C>T (p.Leu180=)
c.817C>T (p.Leu273=)
c.-4294966431C>T
c.-4294966152C>T
c.739C>T (p.Leu247=)
2g.232534004T>ACA351005071CHRNDc.1121T>A (p.Leu374Gln)
c.*303T>A (n.*303T>A)
c.*762T>A (n.*762T>A)
c.1076T>A (p.Leu359Gln)
c.539T>A (p.Leu180Gln)
c.818T>A (p.Leu273Gln)
c.-4294966430T>A
c.-4294966151T>A
c.740T>A (p.Leu247Gln)
2g.232534004T>CCA351005072CHRNDc.1121T>C (p.Leu374Pro)
c.*303T>C (n.*303T>C)
c.*762T>C (n.*762T>C)
c.1076T>C (p.Leu359Pro)
c.539T>C (p.Leu180Pro)
c.818T>C (p.Leu273Pro)
c.-4294966430T>C
c.-4294966151T>C
c.740T>C (p.Leu247Pro)
dbSNP
2g.232534004T>GCA351005073CHRNDc.1121T>G (p.Leu374Arg)
c.*303T>G (n.*303T>G)
c.*762T>G (n.*762T>G)
c.1076T>G (p.Leu359Arg)
c.539T>G (p.Leu180Arg)
c.818T>G (p.Leu273Arg)
c.-4294966430T>G
c.-4294966151T>G
c.740T>G (p.Leu247Arg)
2g.232534005G>ACA431952509CHRNDc.1122G>A (p.Leu374=)
c.*304G>A (n.*304G>A)
c.*763G>A (n.*763G>A)
c.1077G>A (p.Leu359=)
c.540G>A (p.Leu180=)
c.819G>A (p.Leu273=)
c.-4294966429G>A
c.-4294966150G>A
c.741G>A (p.Leu247=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232534005G>CCA431952510CHRNDc.1122G>C (p.Leu374=)
c.*304G>C (n.*304G>C)
c.*763G>C (n.*763G>C)
c.1077G>C (p.Leu359=)
c.540G>C (p.Leu180=)
c.819G>C (p.Leu273=)
c.-4294966429G>C
c.-4294966150G>C
c.741G>C (p.Leu247=)
dbSNP
2g.232534005G=CA1335313967CHRNDc.1122G= (p.Leu374=)
c.*304G= (n.*304G=)
c.*763G= (n.*763G=)
c.1077G= (p.Leu359=)
c.540G= (p.Leu180=)
c.819G= (p.Leu273=)
c.-4294966429G=
c.-4294966150G=
c.741G= (p.Leu247=)
2g.232534005G>TCA431952511CHRNDc.1122G>T (p.Leu374=)
c.*304G>T (n.*304G>T)
c.*763G>T (n.*763G>T)
c.1077G>T (p.Leu359=)
c.540G>T (p.Leu180=)
c.819G>T (p.Leu273=)
c.-4294966429G>T
c.-4294966150G>T
c.741G>T (p.Leu247=)
ClinVar dbSNP
2g.232534006G>ACA351005074CHRNDc.1123G>A (p.Val375Met)
c.*305G>A (n.*305G>A)
c.*764G>A (n.*764G>A)
c.1078G>A (p.Val360Met)
c.541G>A (p.Val181Met)
c.820G>A (p.Val274Met)
c.-4294966428G>A
c.-4294966149G>A
c.742G>A (p.Val248Met)
dbSNP gnomAD v2
2g.232534006G>CCA351005075CHRNDc.1123G>C (p.Val375Leu)
c.*305G>C (n.*305G>C)
c.*764G>C (n.*764G>C)
c.1078G>C (p.Val360Leu)
c.541G>C (p.Val181Leu)
c.820G>C (p.Val274Leu)
c.-4294966428G>C
c.-4294966149G>C
c.742G>C (p.Val248Leu)
2g.232534006G=CA1335313968CHRNDc.1123G= (p.Val375=)
c.*305G= (n.*305G=)
c.*764G= (n.*764G=)
c.1078G= (p.Val360=)
c.541G= (p.Val181=)
c.820G= (p.Val274=)
c.-4294966428G=
c.-4294966149G=
c.742G= (p.Val248=)
2g.232534006G>TCA2168269CHRNDc.1123G>T (p.Val375Leu)
c.*305G>T (n.*305G>T)
c.*764G>T (n.*764G>T)
c.1078G>T (p.Val360Leu)
c.541G>T (p.Val181Leu)
c.820G>T (p.Val274Leu)
c.-4294966428G>T
c.-4294966149G>T
c.742G>T (p.Val248Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534007T>ACA351005076CHRNDc.1124T>A (p.Val375Glu)
c.*306T>A (n.*306T>A)
c.*765T>A (n.*765T>A)
c.1079T>A (p.Val360Glu)
c.542T>A (p.Val181Glu)
c.821T>A (p.Val274Glu)
c.-4294966427T>A
c.-4294966148T>A
c.743T>A (p.Val248Glu)
dbSNP gnomAD v3 gnomAD v4
2g.232534007T>CCA351005078CHRNDc.1124T>C (p.Val375Ala)
c.*306T>C (n.*306T>C)
c.*765T>C (n.*765T>C)
c.1079T>C (p.Val360Ala)
c.542T>C (p.Val181Ala)
c.821T>C (p.Val274Ala)
c.-4294966427T>C
c.-4294966148T>C
c.743T>C (p.Val248Ala)
dbSNP COSMIC
2g.232534007T>GCA351005077CHRNDc.1124T>G (p.Val375Gly)
c.*306T>G (n.*306T>G)
c.*765T>G (n.*765T>G)
c.1079T>G (p.Val360Gly)
c.542T>G (p.Val181Gly)
c.821T>G (p.Val274Gly)
c.-4294966427T>G
c.-4294966148T>G
c.743T>G (p.Val248Gly)
2g.232534007T=CA1335313969CHRNDc.1124T= (p.Val375=)
c.*306T= (n.*306T=)
c.*765T= (n.*765T=)
c.1079T= (p.Val360=)
c.542T= (p.Val181=)
c.821T= (p.Val274=)
c.-4294966427T=
c.-4294966148T=
c.743T= (p.Val248=)
2g.232534008G>ACA2168270CHRNDc.1125G>A (p.Val375=)
c.*307G>A (n.*307G>A)
c.*766G>A (n.*766G>A)
c.1080G>A (p.Val360=)
c.543G>A (p.Val181=)
c.822G>A (p.Val274=)
c.-4294966426G>A
c.-4294966147G>A
c.744G>A (p.Val248=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534008G>CCA431952512CHRNDc.1125G>C (p.Val375=)
c.*307G>C (n.*307G>C)
c.*766G>C (n.*766G>C)
c.1080G>C (p.Val360=)
c.543G>C (p.Val181=)
c.822G>C (p.Val274=)
c.-4294966426G>C
c.-4294966147G>C
c.744G>C (p.Val248=)
2g.232534008G=CA1335313970CHRNDc.1125G= (p.Val375=)
c.*307G= (n.*307G=)
c.*766G= (n.*766G=)
c.1080G= (p.Val360=)
c.543G= (p.Val181=)
c.822G= (p.Val274=)
c.-4294966426G=
c.-4294966147G=
c.744G= (p.Val248=)
2g.232534008G>TCA431952513CHRNDc.1125G>T (p.Val375=)
c.*307G>T (n.*307G>T)
c.*766G>T (n.*766G>T)
c.1080G>T (p.Val360=)
c.543G>T (p.Val181=)
c.822G>T (p.Val274=)
c.-4294966426G>T
c.-4294966147G>T
c.744G>T (p.Val248=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232534009C>ACA431952514CHRNDc.1126C>A (p.Arg376=)
c.*308C>A (n.*308C>A)
c.*767C>A (n.*767C>A)
c.1081C>A (p.Arg361=)
c.544C>A (p.Arg182=)
c.823C>A (p.Arg275=)
c.-4294966425C>A
c.-4294966146C>A
c.745C>A (p.Arg249=)
2g.232534009C=CA1335313971CHRNDc.1126C= (p.Arg376=)
c.*308C= (n.*308C=)
c.*767C= (n.*767C=)
c.1081C= (p.Arg361=)
c.544C= (p.Arg182=)
c.823C= (p.Arg275=)
c.-4294966425C=
c.-4294966146C=
c.745C= (p.Arg249=)
2g.232534009C>GCA351005079CHRNDc.1126C>G (p.Arg376Gly)
c.*308C>G (n.*308C>G)
c.*767C>G (n.*767C>G)
c.1081C>G (p.Arg361Gly)
c.544C>G (p.Arg182Gly)
c.823C>G (p.Arg275Gly)
c.-4294966425C>G
c.-4294966146C>G
c.745C>G (p.Arg249Gly)
2g.232534009C>TCA2168271CHRNDc.1126C>T (p.Arg376Trp)
c.*308C>T (n.*308C>T)
c.*767C>T (n.*767C>T)
c.1081C>T (p.Arg361Trp)
c.544C>T (p.Arg182Trp)
c.823C>T (p.Arg275Trp)
c.-4294966425C>T
c.-4294966146C>T
c.745C>T (p.Arg249Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.232534010G>ACA2168272CHRNDc.1127G>A (p.Arg376Gln)
c.*309G>A (n.*309G>A)
c.*768G>A (n.*768G>A)
c.1082G>A (p.Arg361Gln)
c.545G>A (p.Arg182Gln)
c.824G>A (p.Arg275Gln)
c.-4294966424G>A
c.-4294966145G>A
c.746G>A (p.Arg249Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534010G>CCA2168273CHRNDc.1127G>C (p.Arg376Pro)
c.*309G>C (n.*309G>C)
c.*768G>C (n.*768G>C)
c.1082G>C (p.Arg361Pro)
c.545G>C (p.Arg182Pro)
c.824G>C (p.Arg275Pro)
c.-4294966424G>C
c.-4294966145G>C
c.746G>C (p.Arg249Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.232534010G=CA1335313972CHRNDc.1127G= (p.Arg376=)
c.*309G= (n.*309G=)
c.*768G= (n.*768G=)
c.1082G= (p.Arg361=)
c.545G= (p.Arg182=)
c.824G= (p.Arg275=)
c.-4294966424G=
c.-4294966145G=
c.746G= (p.Arg249=)
2g.232534010G>TCA351005080CHRNDc.1127G>T (p.Arg376Leu)
c.*309G>T (n.*309G>T)
c.*768G>T (n.*768G>T)
c.1082G>T (p.Arg361Leu)
c.545G>T (p.Arg182Leu)
c.824G>T (p.Arg275Leu)
c.-4294966424G>T
c.-4294966145G>T
c.746G>T (p.Arg249Leu)
dbSNP gnomAD v4
2g.232534014_232534016dupCA2663623281CHRNDc.1131_1133dup (p.Arg377_Ser378insArg)
c.*313_*315dup (n.*313_*315dup)
c.*772_*774dup (n.*772_*774dup)
c.1086_1088dup (p.Arg362_Ser363insArg)
c.549_551dup (p.Arg183_Ser184insArg)
c.828_830dup (p.Arg276_Ser277insArg)
c.-4294966420_-4294966418dup
c.-4294966141_-4294966139dup
c.750_752dup (p.Arg250_Ser251insArg)
gnomAD v4
2g.232534011G>ACA431952515CHRNDc.1128G>A (p.Arg376=)
c.*310G>A (n.*310G>A)
c.*769G>A (n.*769G>A)
c.1083G>A (p.Arg361=)
c.546G>A (p.Arg182=)
c.825G>A (p.Arg275=)
c.-4294966423G>A
c.-4294966144G>A
c.747G>A (p.Arg249=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232534011G>CCA431952516CHRNDc.1128G>C (p.Arg376=)
c.*310G>C (n.*310G>C)
c.*769G>C (n.*769G>C)
c.1083G>C (p.Arg361=)
c.546G>C (p.Arg182=)
c.825G>C (p.Arg275=)
c.-4294966423G>C
c.-4294966144G>C
c.747G>C (p.Arg249=)
gnomAD v4
2g.232534011G=CA1335313973CHRNDc.1128G= (p.Arg376=)
c.*310G= (n.*310G=)
c.*769G= (n.*769G=)
c.1083G= (p.Arg361=)
c.546G= (p.Arg182=)
c.825G= (p.Arg275=)
c.-4294966423G=
c.-4294966144G=
c.747G= (p.Arg249=)
2g.232534011G>TCA431952517CHRNDc.1128G>T (p.Arg376=)
c.*310G>T (n.*310G>T)
c.*769G>T (n.*769G>T)
c.1083G>T (p.Arg361=)
c.546G>T (p.Arg182=)
c.825G>T (p.Arg275=)
c.-4294966423G>T
c.-4294966144G>T
c.747G>T (p.Arg249=)
2g.232534012A>CCA431952518CHRNDc.1129A>C (p.Arg377=)
c.*311A>C (n.*311A>C)
c.*770A>C (n.*770A>C)
c.1084A>C (p.Arg362=)
c.547A>C (p.Arg183=)
c.826A>C (p.Arg276=)
c.-4294966422A>C
c.-4294966143A>C
c.748A>C (p.Arg250=)
2g.232534012A>GCA351005081CHRNDc.1129A>G (p.Arg377Gly)
c.*311A>G (n.*311A>G)
c.*770A>G (n.*770A>G)
c.1084A>G (p.Arg362Gly)
c.547A>G (p.Arg183Gly)
c.826A>G (p.Arg276Gly)
c.-4294966422A>G
c.-4294966143A>G
c.748A>G (p.Arg250Gly)
2g.232534012A>TCA351005082CHRNDc.1129A>T (p.Arg377Trp)
c.*311A>T (n.*311A>T)
c.*770A>T (n.*770A>T)
c.1084A>T (p.Arg362Trp)
c.547A>T (p.Arg183Trp)
c.826A>T (p.Arg276Trp)
c.-4294966422A>T
c.-4294966143A>T
c.748A>T (p.Arg250Trp)
2g.232534013G>ACA351005083CHRNDc.1130G>A (p.Arg377Lys)
c.*312G>A (n.*312G>A)
c.*771G>A (n.*771G>A)
c.1085G>A (p.Arg362Lys)
c.548G>A (p.Arg183Lys)
c.827G>A (p.Arg276Lys)
c.-4294966421G>A
c.-4294966142G>A
c.749G>A (p.Arg250Lys)
dbSNP gnomAD v3 gnomAD v4
2g.232534013G>CCA351005084CHRNDc.1130G>C (p.Arg377Thr)
c.*312G>C (n.*312G>C)
c.*771G>C (n.*771G>C)
c.1085G>C (p.Arg362Thr)
c.548G>C (p.Arg183Thr)
c.827G>C (p.Arg276Thr)
c.-4294966421G>C
c.-4294966142G>C
c.749G>C (p.Arg250Thr)
2g.232534013G=CA1335313974CHRNDc.1130G= (p.Arg377=)
c.*312G= (n.*312G=)
c.*771G= (n.*771G=)
c.1085G= (p.Arg362=)
c.548G= (p.Arg183=)
c.827G= (p.Arg276=)
c.-4294966421G=
c.-4294966142G=
c.749G= (p.Arg250=)
2g.232534013G>TCA351005085CHRNDc.1130G>T (p.Arg377Met)
c.*312G>T (n.*312G>T)
c.*771G>T (n.*771G>T)
c.1085G>T (p.Arg362Met)
c.548G>T (p.Arg183Met)
c.827G>T (p.Arg276Met)
c.-4294966421G>T
c.-4294966142G>T
c.749G>T (p.Arg250Met)
2g.232534014G>ACA2168274CHRNDc.1131G>A (p.Arg377=)
c.*313G>A (n.*313G>A)
c.*772G>A (n.*772G>A)
c.1086G>A (p.Arg362=)
c.549G>A (p.Arg183=)
c.828G>A (p.Arg276=)
c.-4294966420G>A
c.-4294966141G>A
c.750G>A (p.Arg250=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232534014G>CCA351005086CHRNDc.1131G>C (p.Arg377Ser)
c.*313G>C (n.*313G>C)
c.*772G>C (n.*772G>C)
c.1086G>C (p.Arg362Ser)
c.549G>C (p.Arg183Ser)
c.828G>C (p.Arg276Ser)
c.-4294966420G>C
c.-4294966141G>C
c.750G>C (p.Arg250Ser)
2g.232534014G=CA1335313975CHRNDc.1131G= (p.Arg377=)
c.*313G= (n.*313G=)
c.*772G= (n.*772G=)
c.1086G= (p.Arg362=)
c.549G= (p.Arg183=)
c.828G= (p.Arg276=)
c.-4294966420G=
c.-4294966141G=
c.750G= (p.Arg250=)
2g.232534014G>TCA351005087CHRNDc.1131G>T (p.Arg377Ser)
c.*313G>T (n.*313G>T)
c.*772G>T (n.*772G>T)
c.1086G>T (p.Arg362Ser)
c.549G>T (p.Arg183Ser)
c.828G>T (p.Arg276Ser)
c.-4294966420G>T
c.-4294966141G>T
c.750G>T (p.Arg250Ser)
dbSNP gnomAD v2 gnomAD v4
2g.232534015A>CCA351005088CHRNDc.1132A>C (p.Ser378Arg)
c.*314A>C (n.*314A>C)
c.*773A>C (n.*773A>C)
c.1087A>C (p.Ser363Arg)
c.550A>C (p.Ser184Arg)
c.829A>C (p.Ser277Arg)
c.-4294966419A>C
c.-4294966140A>C
c.751A>C (p.Ser251Arg)
2g.232534015A>GCA351005089CHRNDc.1132A>G (p.Ser378Gly)
c.*314A>G (n.*314A>G)
c.*773A>G (n.*773A>G)
c.1087A>G (p.Ser363Gly)
c.550A>G (p.Ser184Gly)
c.829A>G (p.Ser277Gly)
c.-4294966419A>G
c.-4294966140A>G
c.751A>G (p.Ser251Gly)
gnomAD v4
2g.232534015A>TCA351005090CHRNDc.1132A>T (p.Ser378Cys)
c.*314A>T (n.*314A>T)
c.*773A>T (n.*773A>T)
c.1087A>T (p.Ser363Cys)
c.550A>T (p.Ser184Cys)
c.829A>T (p.Ser277Cys)
c.-4294966419A>T
c.-4294966140A>T
c.751A>T (p.Ser251Cys)
2g.232534016G>ACA351005091CHRNDc.1133G>A (p.Ser378Asn)
c.*315G>A (n.*315G>A)
c.*774G>A (n.*774G>A)
c.1088G>A (p.Ser363Asn)
c.551G>A (p.Ser184Asn)
c.830G>A (p.Ser277Asn)
c.-4294966418G>A
c.-4294966139G>A
c.752G>A (p.Ser251Asn)
gnomAD v4
2g.232534016G>CCA351005092CHRNDc.1133G>C (p.Ser378Thr)
c.*315G>C (n.*315G>C)
c.*774G>C (n.*774G>C)
c.1088G>C (p.Ser363Thr)
c.551G>C (p.Ser184Thr)
c.830G>C (p.Ser277Thr)
c.-4294966418G>C
c.-4294966139G>C
c.752G>C (p.Ser251Thr)
2g.232534016G>TCA351005093CHRNDc.1133G>T (p.Ser378Ile)
c.*315G>T (n.*315G>T)
c.*774G>T (n.*774G>T)
c.1088G>T (p.Ser363Ile)
c.551G>T (p.Ser184Ile)
c.830G>T (p.Ser277Ile)
c.-4294966418G>T
c.-4294966139G>T
c.752G>T (p.Ser251Ile)
2g.232534017C>ACA351005094CHRNDc.1134C>A (p.Ser378Arg)
c.*316C>A (n.*316C>A)
c.*775C>A (n.*775C>A)
c.1089C>A (p.Ser363Arg)
c.552C>A (p.Ser184Arg)
c.831C>A (p.Ser277Arg)
c.-4294966417C>A
c.-4294966138C>A
c.753C>A (p.Ser251Arg)
gnomAD v4
2g.232534017C>GCA351005095CHRNDc.1134C>G (p.Ser378Arg)
c.*316C>G (n.*316C>G)
c.*775C>G (n.*775C>G)
c.1089C>G (p.Ser363Arg)
c.552C>G (p.Ser184Arg)
c.831C>G (p.Ser277Arg)
c.-4294966417C>G
c.-4294966138C>G
c.753C>G (p.Ser251Arg)
2g.232534017C>TCA431952519CHRNDc.1134C>T (p.Ser378=)
c.*316C>T (n.*316C>T)
c.*775C>T (n.*775C>T)
c.1089C>T (p.Ser363=)
c.552C>T (p.Ser184=)
c.831C>T (p.Ser277=)
c.-4294966417C>T
c.-4294966138C>T
c.753C>T (p.Ser251=)
2g.232534018A>CCA351005096CHRNDc.1135A>C (p.Ser379Arg)
c.*317A>C (n.*317A>C)
c.*776A>C (n.*776A>C)
c.1090A>C (p.Ser364Arg)
c.553A>C (p.Ser185Arg)
c.832A>C (p.Ser278Arg)
c.-4294966416A>C
c.-4294966137A>C
c.754A>C (p.Ser252Arg)
2g.232534018A>GCA351005097CHRNDc.1135A>G (p.Ser379Gly)
c.*317A>G (n.*317A>G)
c.*776A>G (n.*776A>G)
c.1090A>G (p.Ser364Gly)
c.553A>G (p.Ser185Gly)
c.832A>G (p.Ser278Gly)
c.-4294966416A>G
c.-4294966137A>G
c.754A>G (p.Ser252Gly)
gnomAD v4
2g.232534018A>TCA351005098CHRNDc.1135A>T (p.Ser379Cys)
c.*317A>T (n.*317A>T)
c.*776A>T (n.*776A>T)
c.1090A>T (p.Ser364Cys)
c.553A>T (p.Ser185Cys)
c.832A>T (p.Ser278Cys)
c.-4294966416A>T
c.-4294966137A>T
c.754A>T (p.Ser252Cys)
2g.232534019G>ACA351005100CHRNDc.1136G>A (p.Ser379Asn)
c.*318G>A (n.*318G>A)
c.*777G>A (n.*777G>A)
c.1091G>A (p.Ser364Asn)
c.554G>A (p.Ser185Asn)
c.833G>A (p.Ser278Asn)
c.-4294966415G>A
c.-4294966136G>A
c.755G>A (p.Ser252Asn)
2g.232534019G>CCA351005101CHRNDc.1136G>C (p.Ser379Thr)
c.*318G>C (n.*318G>C)
c.*777G>C (n.*777G>C)
c.1091G>C (p.Ser364Thr)
c.554G>C (p.Ser185Thr)
c.833G>C (p.Ser278Thr)
c.-4294966415G>C
c.-4294966136G>C
c.755G>C (p.Ser252Thr)
2g.232534019G>TCA351005099CHRNDc.1136G>T (p.Ser379Ile)
c.*318G>T (n.*318G>T)
c.*777G>T (n.*777G>T)
c.1091G>T (p.Ser364Ile)
c.554G>T (p.Ser185Ile)
c.833G>T (p.Ser278Ile)
c.-4294966415G>T
c.-4294966136G>T
c.755G>T (p.Ser252Ile)
gnomAD v4
2g.232534020C>ACA351005103CHRNDc.1137C>A (p.Ser379Arg)
c.*319C>A (n.*319C>A)
c.*778C>A (n.*778C>A)
c.1092C>A (p.Ser364Arg)
c.555C>A (p.Ser185Arg)
c.834C>A (p.Ser278Arg)
c.-4294966414C>A
c.-4294966135C>A
c.756C>A (p.Ser252Arg)
2g.232534020C>GCA351005102CHRNDc.1137C>G (p.Ser379Arg)
c.*319C>G (n.*319C>G)
c.*778C>G (n.*778C>G)
c.1092C>G (p.Ser364Arg)
c.555C>G (p.Ser185Arg)
c.834C>G (p.Ser278Arg)
c.-4294966414C>G
c.-4294966135C>G
c.756C>G (p.Ser252Arg)
2g.232534020C>TCA431952520CHRNDc.1137C>T (p.Ser379=)
c.*319C>T (n.*319C>T)
c.*778C>T (n.*778C>T)
c.1092C>T (p.Ser364=)
c.555C>T (p.Ser185=)
c.834C>T (p.Ser278=)
c.-4294966414C>T
c.-4294966135C>T
c.756C>T (p.Ser252=)
2g.232534021T>ACA351005104CHRNDc.1138T>A (p.Ser380Thr)
c.*320T>A (n.*320T>A)
c.*779T>A (n.*779T>A)
c.1093T>A (p.Ser365Thr)
c.556T>A (p.Ser186Thr)
c.835T>A (p.Ser279Thr)
c.-4294966413T>A
c.-4294966134T>A
c.757T>A (p.Ser253Thr)
2g.232534021T>CCA66957476CHRNDc.1138T>C (p.Ser380Pro)
c.*320T>C (n.*320T>C)
c.*779T>C (n.*779T>C)
c.1093T>C (p.Ser365Pro)
c.556T>C (p.Ser186Pro)
c.835T>C (p.Ser279Pro)
c.-4294966413T>C
c.-4294966134T>C
c.757T>C (p.Ser253Pro)
dbSNP
2g.232534021T>GCA351005105CHRNDc.1138T>G (p.Ser380Ala)
c.*320T>G (n.*320T>G)
c.*779T>G (n.*779T>G)
c.1093T>G (p.Ser365Ala)
c.556T>G (p.Ser186Ala)
c.835T>G (p.Ser279Ala)
c.-4294966413T>G
c.-4294966134T>G
c.757T>G (p.Ser253Ala)
gnomAD v4
2g.232534021T=CA1335313976CHRNDc.1138T= (p.Ser380=)
c.*320T= (n.*320T=)
c.*779T= (n.*779T=)
c.1093T= (p.Ser365=)
c.556T= (p.Ser186=)
c.835T= (p.Ser279=)
c.-4294966413T=
c.-4294966134T=
c.757T= (p.Ser253=)
2g.232534022C>ACA351005106CHRNDc.1139C>A (p.Ser380Tyr)
c.*321C>A (n.*321C>A)
c.*780C>A (n.*780C>A)
c.1094C>A (p.Ser365Tyr)
c.557C>A (p.Ser186Tyr)
c.836C>A (p.Ser279Tyr)
c.-4294966412C>A
c.-4294966133C>A
c.758C>A (p.Ser253Tyr)
2g.232534022C>GCA351005107CHRNDc.1139C>G (p.Ser380Cys)
c.*321C>G (n.*321C>G)
c.*780C>G (n.*780C>G)
c.1094C>G (p.Ser365Cys)
c.557C>G (p.Ser186Cys)
c.836C>G (p.Ser279Cys)
c.-4294966412C>G
c.-4294966133C>G
c.758C>G (p.Ser253Cys)
2g.232534022C>TCA351005108CHRNDc.1139C>T (p.Ser380Phe)
c.*321C>T (n.*321C>T)
c.*780C>T (n.*780C>T)
c.1094C>T (p.Ser365Phe)
c.557C>T (p.Ser186Phe)
c.836C>T (p.Ser279Phe)
c.-4294966412C>T
c.-4294966133C>T
c.758C>T (p.Ser253Phe)
gnomAD v4 COSMIC
2g.232534023C>ACA431952521CHRNDc.1140C>A (p.Ser380=)
c.*322C>A (n.*322C>A)
c.*781C>A (n.*781C>A)
c.1095C>A (p.Ser365=)
c.558C>A (p.Ser186=)
c.837C>A (p.Ser279=)
c.-4294966411C>A
c.-4294966132C>A
c.759C>A (p.Ser253=)
2g.232534023C>GCA431952523CHRNDc.1140C>G (p.Ser380=)
c.*322C>G (n.*322C>G)
c.*781C>G (n.*781C>G)
c.1095C>G (p.Ser365=)
c.558C>G (p.Ser186=)
c.837C>G (p.Ser279=)
c.-4294966411C>G
c.-4294966132C>G
c.759C>G (p.Ser253=)
2g.232534023C>TCA431952522CHRNDc.1140C>T (p.Ser380=)
c.*322C>T (n.*322C>T)
c.*781C>T (n.*781C>T)
c.1095C>T (p.Ser365=)
c.558C>T (p.Ser186=)
c.837C>T (p.Ser279=)
c.-4294966411C>T
c.-4294966132C>T
c.759C>T (p.Ser253=)
2g.232534024C>ACA351005109CHRNDc.1141C>A (p.Leu381Met)
c.*323C>A (n.*323C>A)
c.*782C>A (n.*782C>A)
c.1096C>A (p.Leu366Met)
c.559C>A (p.Leu187Met)
c.838C>A (p.Leu280Met)
c.-4294966410C>A
c.-4294966131C>A
c.760C>A (p.Leu254Met)
2g.232534024C>GCA351005110CHRNDc.1141C>G (p.Leu381Val)
c.*323C>G (n.*323C>G)
c.*782C>G (n.*782C>G)
c.1096C>G (p.Leu366Val)
c.559C>G (p.Leu187Val)
c.838C>G (p.Leu280Val)
c.-4294966410C>G
c.-4294966131C>G
c.760C>G (p.Leu254Val)
gnomAD v4
2g.232534024C>TCA431952524CHRNDc.1141C>T (p.Leu381=)
c.*323C>T (n.*323C>T)
c.*782C>T (n.*782C>T)
c.1096C>T (p.Leu366=)
c.559C>T (p.Leu187=)
c.838C>T (p.Leu280=)
c.-4294966410C>T
c.-4294966131C>T
c.760C>T (p.Leu254=)
2g.232534025T>ACA351005111CHRNDc.1142T>A (p.Leu381Gln)
c.*324T>A (n.*324T>A)
c.*783T>A (n.*783T>A)
c.1097T>A (p.Leu366Gln)
c.560T>A (p.Leu187Gln)
c.839T>A (p.Leu280Gln)
c.-4294966409T>A
c.-4294966130T>A
c.761T>A (p.Leu254Gln)
2g.232534025T>CCA351005112CHRNDc.1142T>C (p.Leu381Pro)
c.*324T>C (n.*324T>C)
c.*783T>C (n.*783T>C)
c.1097T>C (p.Leu366Pro)
c.560T>C (p.Leu187Pro)
c.839T>C (p.Leu280Pro)
c.-4294966409T>C
c.-4294966130T>C
c.761T>C (p.Leu254Pro)
dbSNP
2g.232534025T>GCA351005113CHRNDc.1142T>G (p.Leu381Arg)
c.*324T>G (n.*324T>G)
c.*783T>G (n.*783T>G)
c.1097T>G (p.Leu366Arg)
c.560T>G (p.Leu187Arg)
c.839T>G (p.Leu280Arg)
c.-4294966409T>G
c.-4294966130T>G
c.761T>G (p.Leu254Arg)
gnomAD v4
2g.232534025T=CA1335313977CHRNDc.1142T= (p.Leu381=)
c.*324T= (n.*324T=)
c.*783T= (n.*783T=)
c.1097T= (p.Leu366=)
c.560T= (p.Leu187=)
c.839T= (p.Leu280=)
c.-4294966409T=
c.-4294966130T=
c.761T= (p.Leu254=)
2g.232534026G>ACA431952525CHRNDc.1143G>A (p.Leu381=)
c.*325G>A (n.*325G>A)
c.*784G>A (n.*784G>A)
c.1098G>A (p.Leu366=)
c.561G>A (p.Leu187=)
c.840G>A (p.Leu280=)
c.-4294966408G>A
c.-4294966129G>A
c.762G>A (p.Leu254=)
2g.232534026G>CCA431952526CHRNDc.1143G>C (p.Leu381=)
c.*325G>C (n.*325G>C)
c.*784G>C (n.*784G>C)
c.1098G>C (p.Leu366=)
c.561G>C (p.Leu187=)
c.840G>C (p.Leu280=)
c.-4294966408G>C
c.-4294966129G>C
c.762G>C (p.Leu254=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232534026G=CA1335313978CHRNDc.1143G= (p.Leu381=)
c.*325G= (n.*325G=)
c.*784G= (n.*784G=)
c.1098G= (p.Leu366=)
c.561G= (p.Leu187=)
c.840G= (p.Leu280=)
c.-4294966408G=
c.-4294966129G=
c.762G= (p.Leu254=)
2g.232534026G>TCA431952527CHRNDc.1143G>T (p.Leu381=)
c.*325G>T (n.*325G>T)
c.*784G>T (n.*784G>T)
c.1098G>T (p.Leu366=)
c.561G>T (p.Leu187=)
c.840G>T (p.Leu280=)
c.-4294966408G>T
c.-4294966129G>T
c.762G>T (p.Leu254=)
2g.232534027G>ACA351005116CHRNDc.1144G>A (p.Gly382Arg)
c.*326G>A (n.*326G>A)
c.*785G>A (n.*785G>A)
c.1099G>A (p.Gly367Arg)
c.562G>A (p.Gly188Arg)
c.841G>A (p.Gly281Arg)
c.-4294966407G>A
c.-4294966128G>A
c.763G>A (p.Gly255Arg)
2g.232534027G>CCA351005114CHRNDc.1144G>C (p.Gly382Arg)
c.*326G>C (n.*326G>C)
c.*785G>C (n.*785G>C)
c.1099G>C (p.Gly367Arg)
c.562G>C (p.Gly188Arg)
c.841G>C (p.Gly281Arg)
c.-4294966407G>C
c.-4294966128G>C
c.763G>C (p.Gly255Arg)
2g.232534027G>TCA351005115CHRNDc.1144G>T (p.Gly382Ter)
c.*326G>T (n.*326G>T)
c.*785G>T (n.*785G>T)
c.1099G>T (p.Gly367Ter)
c.562G>T (p.Gly188Ter)
c.841G>T (p.Gly281Ter)
c.-4294966407G>T
c.-4294966128G>T
c.763G>T (p.Gly255Ter)
2g.232534028G>ACA351005117CHRNDc.1145G>A (p.Gly382Glu)
c.*327G>A (n.*327G>A)
c.*786G>A (n.*786G>A)
c.1100G>A (p.Gly367Glu)
c.563G>A (p.Gly188Glu)
c.842G>A (p.Gly281Glu)
c.-4294966406G>A
c.-4294966127G>A
c.764G>A (p.Gly255Glu)
2g.232534028G>CCA351005118CHRNDc.1145G>C (p.Gly382Ala)
c.*327G>C (n.*327G>C)
c.*786G>C (n.*786G>C)
c.1100G>C (p.Gly367Ala)
c.563G>C (p.Gly188Ala)
c.842G>C (p.Gly281Ala)
c.-4294966406G>C
c.-4294966127G>C
c.764G>C (p.Gly255Ala)
2g.232534028G>TCA351005119CHRNDc.1145G>T (p.Gly382Val)
c.*327G>T (n.*327G>T)
c.*786G>T (n.*786G>T)
c.1100G>T (p.Gly367Val)
c.563G>T (p.Gly188Val)
c.842G>T (p.Gly281Val)
c.-4294966406G>T
c.-4294966127G>T
c.764G>T (p.Gly255Val)
2g.232534029A>CCA431952528CHRNDc.1146A>C (p.Gly382=)
c.*328A>C (n.*328A>C)
c.*787A>C (n.*787A>C)
c.1101A>C (p.Gly367=)
c.564A>C (p.Gly188=)
c.843A>C (p.Gly281=)
c.-4294966405A>C
c.-4294966126A>C
c.765A>C (p.Gly255=)
2g.232534029A>GCA431952529CHRNDc.1146A>G (p.Gly382=)
c.*328A>G (n.*328A>G)
c.*787A>G (n.*787A>G)
c.1101A>G (p.Gly367=)
c.564A>G (p.Gly188=)
c.843A>G (p.Gly281=)
c.-4294966405A>G
c.-4294966126A>G
c.765A>G (p.Gly255=)
gnomAD v4
2g.232534029A>TCA431952530CHRNDc.1146A>T (p.Gly382=)
c.*328A>T (n.*328A>T)
c.*787A>T (n.*787A>T)
c.1101A>T (p.Gly367=)
c.564A>T (p.Gly188=)
c.843A>T (p.Gly281=)
c.-4294966405A>T
c.-4294966126A>T
c.765A>T (p.Gly255=)
2g.232534030T>ACA351005120CHRNDc.1147T>A (p.Tyr383Asn)
c.*329T>A (n.*329T>A)
c.*788T>A (n.*788T>A)
c.1102T>A (p.Tyr368Asn)
c.565T>A (p.Tyr189Asn)
c.844T>A (p.Tyr282Asn)
c.-4294966404T>A
c.-4294966125T>A
c.766T>A (p.Tyr256Asn)
2g.232534030T>CCA351005121CHRNDc.1147T>C (p.Tyr383His)
c.*329T>C (n.*329T>C)
c.*788T>C (n.*788T>C)
c.1102T>C (p.Tyr368His)
c.565T>C (p.Tyr189His)
c.844T>C (p.Tyr282His)
c.-4294966404T>C
c.-4294966125T>C
c.766T>C (p.Tyr256His)
2g.232534030T>GCA351005122CHRNDc.1147T>G (p.Tyr383Asp)
c.*329T>G (n.*329T>G)
c.*788T>G (n.*788T>G)
c.1102T>G (p.Tyr368Asp)
c.565T>G (p.Tyr189Asp)
c.844T>G (p.Tyr282Asp)
c.-4294966404T>G
c.-4294966125T>G
c.766T>G (p.Tyr256Asp)
2g.232534031A>CCA351005123CHRNDc.1148A>C (p.Tyr383Ser)
c.*330A>C (n.*330A>C)
c.*789A>C (n.*789A>C)
c.1103A>C (p.Tyr368Ser)
c.566A>C (p.Tyr189Ser)
c.845A>C (p.Tyr282Ser)
c.-4294966403A>C
c.-4294966124A>C
c.767A>C (p.Tyr256Ser)
2g.232534031A>GCA351005124CHRNDc.1148A>G (p.Tyr383Cys)
c.*330A>G (n.*330A>G)
c.*789A>G (n.*789A>G)
c.1103A>G (p.Tyr368Cys)
c.566A>G (p.Tyr189Cys)
c.845A>G (p.Tyr282Cys)
c.-4294966403A>G
c.-4294966124A>G
c.767A>G (p.Tyr256Cys)
2g.232534031A>TCA351005125CHRNDc.1148A>T (p.Tyr383Phe)
c.*330A>T (n.*330A>T)
c.*789A>T (n.*789A>T)
c.1103A>T (p.Tyr368Phe)
c.566A>T (p.Tyr189Phe)
c.845A>T (p.Tyr282Phe)
c.-4294966403A>T
c.-4294966124A>T
c.767A>T (p.Tyr256Phe)
2g.232534032C>ACA351005126CHRNDc.1149C>A (p.Tyr383Ter)
c.*331C>A (n.*331C>A)
c.*790C>A (n.*790C>A)
c.1104C>A (p.Tyr368Ter)
c.567C>A (p.Tyr189Ter)
c.846C>A (p.Tyr282Ter)
c.-4294966402C>A
c.-4294966123C>A
c.768C>A (p.Tyr256Ter)
dbSNP gnomAD v3 gnomAD v4
2g.232534032C=CA1335313979CHRNDc.1149C= (p.Tyr383=)
c.*331C= (n.*331C=)
c.*790C= (n.*790C=)
c.1104C= (p.Tyr368=)
c.567C= (p.Tyr189=)
c.846C= (p.Tyr282=)
c.-4294966402C=
c.-4294966123C=
c.768C= (p.Tyr256=)
2g.232534032C>GCA351005127CHRNDc.1149C>G (p.Tyr383Ter)
c.*331C>G (n.*331C>G)
c.*790C>G (n.*790C>G)
c.1104C>G (p.Tyr368Ter)
c.567C>G (p.Tyr189Ter)
c.846C>G (p.Tyr282Ter)
c.-4294966402C>G
c.-4294966123C>G
c.768C>G (p.Tyr256Ter)
2g.232534032C>TCA431952531CHRNDc.1149C>T (p.Tyr383=)
c.*331C>T (n.*331C>T)
c.*790C>T (n.*790C>T)
c.1104C>T (p.Tyr368=)
c.567C>T (p.Tyr189=)
c.846C>T (p.Tyr282=)
c.-4294966402C>T
c.-4294966123C>T
c.768C>T (p.Tyr256=)
gnomAD v4
2g.232534033A>CCA351005129CHRNDc.1150A>C (p.Ile384Leu)
c.*332A>C (n.*332A>C)
c.*791A>C (n.*791A>C)
c.1105A>C (p.Ile369Leu)
c.568A>C (p.Ile190Leu)
c.847A>C (p.Ile283Leu)
c.-4294966401A>C
c.-4294966122A>C
c.769A>C (p.Ile257Leu)
gnomAD v4
2g.232534033A>GCA351005130CHRNDc.1150A>G (p.Ile384Val)
c.*332A>G (n.*332A>G)
c.*791A>G (n.*791A>G)
c.1105A>G (p.Ile369Val)
c.568A>G (p.Ile190Val)
c.847A>G (p.Ile283Val)
c.-4294966401A>G
c.-4294966122A>G
c.769A>G (p.Ile257Val)
2g.232534033A>TCA351005128CHRNDc.1150A>T (p.Ile384Phe)
c.*332A>T (n.*332A>T)
c.*791A>T (n.*791A>T)
c.1105A>T (p.Ile369Phe)
c.568A>T (p.Ile190Phe)
c.847A>T (p.Ile283Phe)
c.-4294966401A>T
c.-4294966122A>T
c.769A>T (p.Ile257Phe)
2g.232534034T>ACA2168275CHRNDc.1151T>A (p.Ile384Asn)
c.*333T>A (n.*333T>A)
c.*792T>A (n.*792T>A)
c.1106T>A (p.Ile369Asn)
c.569T>A (p.Ile190Asn)
c.848T>A (p.Ile283Asn)
c.-4294966400T>A
c.-4294966121T>A
c.770T>A (p.Ile257Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.232534034T>CCA351005131CHRNDc.1151T>C (p.Ile384Thr)
c.*333T>C (n.*333T>C)
c.*792T>C (n.*792T>C)
c.1106T>C (p.Ile369Thr)
c.569T>C (p.Ile190Thr)
c.848T>C (p.Ile283Thr)
c.-4294966400T>C
c.-4294966121T>C
c.770T>C (p.Ile257Thr)
dbSNP
2g.232534034T>GCA351005132CHRNDc.1151T>G (p.Ile384Ser)
c.*333T>G (n.*333T>G)
c.*792T>G (n.*792T>G)
c.1106T>G (p.Ile369Ser)
c.569T>G (p.Ile190Ser)
c.848T>G (p.Ile283Ser)
c.-4294966400T>G
c.-4294966121T>G
c.770T>G (p.Ile257Ser)
2g.232534034T=CA1335313980CHRNDc.1151T= (p.Ile384=)
c.*333T= (n.*333T=)
c.*792T= (n.*792T=)
c.1106T= (p.Ile369=)
c.569T= (p.Ile190=)
c.848T= (p.Ile283=)
c.-4294966400T=
c.-4294966121T=
c.770T= (p.Ile257=)
2g.232534035C>ACA431952532CHRNDc.1152C>A (p.Ile384=)
c.*334C>A (n.*334C>A)
c.*793C>A (n.*793C>A)
c.1107C>A (p.Ile369=)
c.570C>A (p.Ile190=)
c.849C>A (p.Ile283=)
c.-4294966399C>A
c.-4294966120C>A
c.771C>A (p.Ile257=)
2g.232534035C>GCA351005133CHRNDc.1152C>G (p.Ile384Met)
c.*334C>G (n.*334C>G)
c.*793C>G (n.*793C>G)
c.1107C>G (p.Ile369Met)
c.570C>G (p.Ile190Met)
c.849C>G (p.Ile283Met)
c.-4294966399C>G
c.-4294966120C>G
c.771C>G (p.Ile257Met)
2g.232534035C>TCA431952533CHRNDc.1152C>T (p.Ile384=)
c.*334C>T (n.*334C>T)
c.*793C>T (n.*793C>T)
c.1107C>T (p.Ile369=)
c.570C>T (p.Ile190=)
c.849C>T (p.Ile283=)
c.-4294966399C>T
c.-4294966120C>T
c.771C>T (p.Ile257=)
2g.232534036T>ACA351005134CHRNDc.1153T>A (p.Ser385Thr)
c.*335T>A (n.*335T>A)
c.*794T>A (n.*794T>A)
c.1108T>A (p.Ser370Thr)
c.571T>A (p.Ser191Thr)
c.850T>A (p.Ser284Thr)
c.-4294966398T>A
c.-4294966119T>A
c.772T>A (p.Ser258Thr)
2g.232534036T>CCA351005135CHRNDc.1153T>C (p.Ser385Pro)
c.*335T>C (n.*335T>C)
c.*794T>C (n.*794T>C)
c.1108T>C (p.Ser370Pro)
c.571T>C (p.Ser191Pro)
c.850T>C (p.Ser284Pro)
c.-4294966398T>C
c.-4294966119T>C
c.772T>C (p.Ser258Pro)
2g.232534036T>GCA351005136CHRNDc.1153T>G (p.Ser385Ala)
c.*335T>G (n.*335T>G)
c.*794T>G (n.*794T>G)
c.1108T>G (p.Ser370Ala)
c.571T>G (p.Ser191Ala)
c.850T>G (p.Ser284Ala)
c.-4294966398T>G
c.-4294966119T>G
c.772T>G (p.Ser258Ala)

Number of alleles fetched