Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232528301T>ACA350997464CHRNDc.283T>A (p.Phe95Ile)
c.238T>A (p.Phe80Ile)
c.12T>A (p.Asn4Lys)
c.-4294966957T>A
2g.232528301T>CCA128069CHRNDc.283T>C (p.Phe95Leu)
c.238T>C (p.Phe80Leu)
c.12T>C (p.Asn4=)
c.-4294966957T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232528301T>GCA350997463CHRNDc.283T>G (p.Phe95Val)
c.238T>G (p.Phe80Val)
c.12T>G (p.Asn4Lys)
c.-4294966957T>G
2g.232528301T=CA1335310420CHRNDc.283T= (p.Phe95=)
c.238T= (p.Phe80=)
c.12T= (p.Asn4=)
c.-4294966957T=
2g.232528302T>ACA350997465CHRNDc.284T>A (p.Phe95Tyr)
c.239T>A (p.Phe80Tyr)
c.13T>A (p.Leu5Met)
c.-4294966956T>A
 dbSNP gnomAD v3 gnomAD v4
2g.232528302T>CCA350997466CHRNDc.284T>C (p.Phe95Ser)
c.239T>C (p.Phe80Ser)
c.13T>C (p.Leu5=)
c.-4294966956T>C
 gnomAD v4
2g.232528302T>GCA350997467CHRNDc.284T>G (p.Phe95Cys)
c.239T>G (p.Phe80Cys)
c.13T>G (p.Leu5Val)
c.-4294966956T>G
2g.232528302T=CA1335310421CHRNDc.284T= (p.Phe95=)
c.239T= (p.Phe80=)
c.13T= (p.Leu5=)
c.-4294966956T=
2g.232528303T>ACA350997468CHRNDc.285T>A (p.Phe95Leu)
c.240T>A (p.Phe80Leu)
c.14T>A (p.Leu5Ter)
c.-4294966955T>A
2g.232528303T>CCA431952076CHRNDc.285T>C (p.Phe95=)
c.240T>C (p.Phe80=)
c.14T>C (p.Leu5Ser)
c.-4294966955T>C
2g.232528303T>GCA350997469CHRNDc.285T>G (p.Phe95Leu)
c.240T>G (p.Phe80Leu)
c.14T>G (p.Leu5Trp)
c.-4294966955T>G
2g.232528304G>ACA350997470CHRNDc.286G>A (p.Gly96Arg)
c.241G>A (p.Gly81Arg)
c.15G>A (p.Leu5=)
c.-4294966954G>A
2g.232528304G>CCA350997471CHRNDc.286G>C (p.Gly96Arg)
c.241G>C (p.Gly81Arg)
c.15G>C (p.Leu5Phe)
c.-4294966954G>C
2g.232528304G>TCA350997472CHRNDc.286G>T (p.Gly96Ter)
c.241G>T (p.Gly81Ter)
c.15G>T (p.Leu5Phe)
c.-4294966954G>T
2g.232528305delCA2663620428CHRNDc.287del (p.Gly96GlufsTer?)
c.242del (p.Gly81GlufsTer?)
c.16del (p.Glu6LysfsTer24)
c.16del (p.Glu6LysfsTer?)
c.-4294966953del
 gnomAD v4
2g.232528305G>ACA2167979CHRNDc.287G>A (p.Gly96Glu)
c.242G>A (p.Gly81Glu)
c.16G>A (p.Glu6Lys)
c.-4294966953G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232528305G>CCA350997473CHRNDc.287G>C (p.Gly96Ala)
c.242G>C (p.Gly81Ala)
c.16G>C (p.Glu6Gln)
c.-4294966953G>C
 dbSNP gnomAD v2 gnomAD v4
2g.232528305G=CA1335310422CHRNDc.287G= (p.Gly96=)
c.242G= (p.Gly81=)
c.16G= (p.Glu6=)
c.-4294966953G=
2g.232528305G>TCA350997474CHRNDc.287G>T (p.Gly96Val)
c.242G>T (p.Gly81Val)
c.16G>T (p.Glu6Ter)
c.-4294966953G>T
2g.232528306A>CCA431952080CHRNDc.288A>C (p.Gly96=)
c.243A>C (p.Gly81=)
c.17A>C (p.Glu6Ala)
c.-4294966952A>C
2g.232528306A>GCA431952081CHRNDc.288A>G (p.Gly96=)
c.243A>G (p.Gly81=)
c.17A>G (p.Glu6Gly)
c.-4294966952A>G
2g.232528306A>TCA431952082CHRNDc.288A>T (p.Gly96=)
c.243A>T (p.Gly81=)
c.17A>T (p.Glu6Val)
c.-4294966952A>T
2g.232528307A>CCA350997477CHRNDc.289A>C (p.Asn97His)
c.244A>C (p.Asn82His)
c.18A>C (p.Glu6Asp)
c.-4294966951A>C
2g.232528307A>GCA350997476CHRNDc.289A>G (p.Asn97Asp)
c.244A>G (p.Asn82Asp)
c.18A>G (p.Glu6=)
c.-4294966951A>G
 gnomAD v4
2g.232528307A>TCA350997475CHRNDc.289A>T (p.Asn97Tyr)
c.244A>T (p.Asn82Tyr)
c.18A>T (p.Glu6Asp)
c.-4294966951A>T
2g.232528308A>CCA350997478CHRNDc.290A>C (p.Asn97Thr)
c.245A>C (p.Asn82Thr)
c.19A>C (p.Thr7Pro)
c.-4294966950A>C
2g.232528308A>GCA350997480CHRNDc.290A>G (p.Asn97Ser)
c.245A>G (p.Asn82Ser)
c.19A>G (p.Thr7Ala)
c.-4294966950A>G
2g.232528308A>TCA350997479CHRNDc.290A>T (p.Asn97Ile)
c.245A>T (p.Asn82Ile)
c.19A>T (p.Thr7Ser)
c.-4294966950A>T
2g.232528309C>ACA350997481CHRNDc.291C>A (p.Asn97Lys)
c.246C>A (p.Asn82Lys)
c.20C>A (p.Thr7Lys)
c.-4294966949C>A
 gnomAD v4
2g.232528309C>GCA350997482CHRNDc.291C>G (p.Asn97Lys)
c.246C>G (p.Asn82Lys)
c.20C>G (p.Thr7Arg)
c.-4294966949C>G
2g.232528309C>TCA431952084CHRNDc.291C>T (p.Asn97=)
c.246C>T (p.Asn82=)
c.20C>T (p.Thr7Ile)
c.-4294966949C>T
2g.232528310A=CA1335310423CHRNDc.292A= (p.Ile98=)
c.247A= (p.Ile83=)
c.21A= (p.Thr7=)
c.-4294966948A=
2g.232528310A>CCA350997483CHRNDc.292A>C (p.Ile98Leu)
c.247A>C (p.Ile83Leu)
c.21A>C (p.Thr7=)
c.-4294966948A>C
2g.232528310A>GCA2167980CHRNDc.292A>G (p.Ile98Val)
c.247A>G (p.Ile83Val)
c.21A>G (p.Thr7=)
c.-4294966948A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232528310A>TCA350997484CHRNDc.292A>T (p.Ile98Phe)
c.247A>T (p.Ile83Phe)
c.21A>T (p.Thr7=)
c.-4294966948A>T
 gnomAD v4
2g.232528311T>ACA350997485CHRNDc.293T>A (p.Ile98Asn)
c.248T>A (p.Ile83Asn)
c.22T>A (p.Ser8Thr)
c.-4294966947T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232528311T>CCA350997486CHRNDc.293T>C (p.Ile98Thr)
c.248T>C (p.Ile83Thr)
c.22T>C (p.Ser8Pro)
c.-4294966947T>C
2g.232528311T>GCA2167981CHRNDc.293T>G (p.Ile98Ser)
c.248T>G (p.Ile83Ser)
c.22T>G (p.Ser8Ala)
c.-4294966947T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232528311T=CA1335310424CHRNDc.293T= (p.Ile98=)
c.248T= (p.Ile83=)
c.22T= (p.Ser8=)
c.-4294966947T=
2g.232528312_232528313insTTCCA766132488CHRNDc.294_295insTTC (p.Ile98_Ser99insPhe)
c.249_250insTTC (p.Ile83_Ser84insPhe)
c.23_24insTTC (p.Ser8_Val9insSer)
c.-4294966946_-4294966945insTTC
 dbSNP gnomAD v3 gnomAD v4
2g.232528312C>ACA431952087CHRNDc.294C>A (p.Ile98=)
c.249C>A (p.Ile83=)
c.23C>A (p.Ser8Ter)
c.-4294966946C>A
2g.232528312C=CA1335310425CHRNDc.294C= (p.Ile98=)
c.249C= (p.Ile83=)
c.23C= (p.Ser8=)
c.-4294966946C=
2g.232528312C>GCA350997487CHRNDc.294C>G (p.Ile98Met)
c.249C>G (p.Ile83Met)
c.23C>G (p.Ser8Ter)
c.-4294966946C>G
2g.232528312C>TCA431952088CHRNDc.294C>T (p.Ile98=)
c.249C>T (p.Ile83=)
c.23C>T (p.Ser8Leu)
c.-4294966946C>T
2g.232528313A=CA1335310427CHRNDc.295A= (p.Ser99=)
c.250A= (p.Ser84=)
c.24A= (p.Ser8=)
c.-4294966945A=
2g.232528313A>CCA350997488CHRNDc.295A>C (p.Ser99Arg)
c.250A>C (p.Ser84Arg)
c.24A>C (p.Ser8=)
c.-4294966945A>C
2g.232528313A>GCA350997489CHRNDc.295A>G (p.Ser99Gly)
c.250A>G (p.Ser84Gly)
c.24A>G (p.Ser8=)
c.-4294966945A>G
 gnomAD v4
2g.232528313A>TCA66951625CHRNDc.295A>T (p.Ser99Cys)
c.250A>T (p.Ser84Cys)
c.24A>T (p.Ser8=)
c.-4294966945A>T
 dbSNP gnomAD v3 gnomAD v4
2g.232528313_232528314dupCA1335310426CHRNDc.295_296dup (p.Ser99ArgfsTer?)
c.250_251dup (p.Ser84ArgfsTer?)
c.24_25dup (p.Val9GlufsTer22)
c.24_25dup (p.Val9GlufsTer?)
c.-4294966945_-4294966944dup
 dbSNP
2g.232528314G>ACA350997492CHRNDc.296G>A (p.Ser99Asn)
c.251G>A (p.Ser84Asn)
c.25G>A (p.Val9Met)
c.-4294966944G>A
2g.232528314G>CCA350997490CHRNDc.296G>C (p.Ser99Thr)
c.251G>C (p.Ser84Thr)
c.25G>C (p.Val9Leu)
c.-4294966944G>C
2g.232528314G>TCA350997491CHRNDc.296G>T (p.Ser99Ile)
c.251G>T (p.Ser84Ile)
c.25G>T (p.Val9Leu)
c.-4294966944G>T
2g.232528315T>ACA350997493CHRNDc.297T>A (p.Ser99Arg)
c.252T>A (p.Ser84Arg)
c.26T>A (p.Val9Glu)
c.-4294966943T>A
2g.232528315T>CCA431952089CHRNDc.297T>C (p.Ser99=)
c.252T>C (p.Ser84=)
c.26T>C (p.Val9Ala)
c.-4294966943T>C
2g.232528315T>GCA350997494CHRNDc.297T>G (p.Ser99Arg)
c.252T>G (p.Ser84Arg)
c.26T>G (p.Val9Gly)
c.-4294966943T>G
2g.232528316G>ACA350997495CHRNDc.298G>A (p.Val100Ile)
c.253G>A (p.Val85Ile)
c.27G>A (p.Val9=)
c.-4294966942G>A
 gnomAD v4
2g.232528316G>CCA66951630CHRNDc.298G>C (p.Val100Leu)
c.253G>C (p.Val85Leu)
c.27G>C (p.Val9=)
c.-4294966942G>C
 ClinVar dbSNP gnomAD v4
2g.232528316G=CA1335310428CHRNDc.298G= (p.Val100=)
c.253G= (p.Val85=)
c.27G= (p.Val9=)
c.-4294966942G=
2g.232528316G>TCA350997496CHRNDc.298G>T (p.Val100Phe)
c.253G>T (p.Val85Phe)
c.27G>T (p.Val9=)
c.-4294966942G>T
2g.232528317T>ACA350997497CHRNDc.299T>A (p.Val100Asp)
c.254T>A (p.Val85Asp)
c.28T>A (p.Ser10Thr)
c.-4294966941T>A
2g.232528317T>CCA350997498CHRNDc.299T>C (p.Val100Ala)
c.254T>C (p.Val85Ala)
c.28T>C (p.Ser10Pro)
c.-4294966941T>C
2g.232528317T>GCA350997499CHRNDc.299T>G (p.Val100Gly)
c.254T>G (p.Val85Gly)
c.28T>G (p.Ser10Ala)
c.-4294966941T>G
2g.232528318C>ACA431952090CHRNDc.300C>A (p.Val100=)
c.255C>A (p.Val85=)
c.29C>A (p.Ser10Tyr)
c.-4294966940C>A
2g.232528318C>GCA431952091CHRNDc.300C>G (p.Val100=)
c.255C>G (p.Val85=)
c.29C>G (p.Ser10Cys)
c.-4294966940C>G
2g.232528318C>TCA431952092CHRNDc.300C>T (p.Val100=)
c.255C>T (p.Val85=)
c.29C>T (p.Ser10Phe)
c.-4294966940C>T
 gnomAD v4 COSMIC
2g.232528319C>ACA350997500CHRNDc.301C>A (p.Leu101Met)
c.256C>A (p.Leu86Met)
c.30C>A (p.Ser10=)
c.-4294966939C>A
2g.232528319C=CA1335310429CHRNDc.301C= (p.Leu101=)
c.256C= (p.Leu86=)
c.30C= (p.Ser10=)
c.-4294966939C=
2g.232528319C>GCA350997501CHRNDc.301C>G (p.Leu101Val)
c.256C>G (p.Leu86Val)
c.30C>G (p.Ser10=)
c.-4294966939C>G
2g.232528319C>TCA2167982CHRNDc.301C>T (p.Leu101=)
c.256C>T (p.Leu86=)
c.30C>T (p.Ser10=)
c.-4294966939C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232528320T>ACA350997504CHRNDc.302T>A (p.Leu101Gln)
c.257T>A (p.Leu86Gln)
c.31T>A (p.Cys11Ser)
c.-4294966938T>A
2g.232528320T>CCA350997503CHRNDc.302T>C (p.Leu101Pro)
c.257T>C (p.Leu86Pro)
c.31T>C (p.Cys11Arg)
c.-4294966938T>C
 dbSNP
2g.232528320T>GCA350997502CHRNDc.302T>G (p.Leu101Arg)
c.257T>G (p.Leu86Arg)
c.31T>G (p.Cys11Gly)
c.-4294966938T>G
2g.232528320T=CA1335310430CHRNDc.302T= (p.Leu101=)
c.257T= (p.Leu86=)
c.31T= (p.Cys11=)
c.-4294966938T=
2g.232528321G>ACA431952095CHRNDc.303G>A (p.Leu101=)
c.258G>A (p.Leu86=)
c.32G>A (p.Cys11Tyr)
c.-4294966937G>A
2g.232528321G>CCA431952094CHRNDc.303G>C (p.Leu101=)
c.258G>C (p.Leu86=)
c.32G>C (p.Cys11Ser)
c.-4294966937G>C
2g.232528321G>TCA431952093CHRNDc.303G>T (p.Leu101=)
c.258G>T (p.Leu86=)
c.32G>T (p.Cys11Phe)
c.-4294966937G>T
2g.232528322C>ACA2167983CHRNDc.304C>A (p.Arg102Ser)
c.259C>A (p.Arg87Ser)
c.33C>A (p.Cys11Ter)
c.-4294966936C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232528322C=CA1335310431CHRNDc.304C= (p.Arg102=)
c.259C= (p.Arg87=)
c.33C= (p.Cys11=)
c.-4294966936C=
2g.232528322C>GCA350997505CHRNDc.304C>G (p.Arg102Gly)
c.259C>G (p.Arg87Gly)
c.33C>G (p.Cys11Trp)
c.-4294966936C>G
2g.232528322C>TCA66951635CHRNDc.304C>T (p.Arg102Cys)
c.259C>T (p.Arg87Cys)
c.33C>T (p.Cys11=)
c.-4294966936C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.232528323G>ACA2167984CHRNDc.305G>A (p.Arg102His)
c.260G>A (p.Arg87His)
c.34G>A (p.Ala12Thr)
c.-4294966935G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.232528323G>CCA350997506CHRNDc.305G>C (p.Arg102Pro)
c.260G>C (p.Arg87Pro)
c.34G>C (p.Ala12Pro)
c.-4294966935G>C
 gnomAD v4
2g.232528323G=CA1335310432CHRNDc.305G= (p.Arg102=)
c.260G= (p.Arg87=)
c.34G= (p.Ala12=)
c.-4294966935G=
2g.232528323G>TCA350997507CHRNDc.305G>T (p.Arg102Leu)
c.260G>T (p.Arg87Leu)
c.34G>T (p.Ala12Ser)
c.-4294966935G>T
2g.232528324C>ACA431952098CHRNDc.306C>A (p.Arg102=)
c.261C>A (p.Arg87=)
c.35C>A (p.Ala12Asp)
c.-4294966934C>A
2g.232528324C>GCA431952097CHRNDc.306C>G (p.Arg102=)
c.261C>G (p.Arg87=)
c.35C>G (p.Ala12Gly)
c.-4294966934C>G
2g.232528324C>TCA431952096CHRNDc.306C>T (p.Arg102=)
c.261C>T (p.Arg87=)
c.35C>T (p.Ala12Val)
c.-4294966934C>T
2g.232528325C>ACA350997508CHRNDc.307C>A (p.Leu103Ile)
c.262C>A (p.Leu88Ile)
c.36C>A (p.Ala12=)
c.-4294966933C>A
2g.232528325C>GCA350997509CHRNDc.307C>G (p.Leu103Val)
c.262C>G (p.Leu88Val)
c.36C>G (p.Ala12=)
c.-4294966933C>G
2g.232528325C>TCA350997510CHRNDc.307C>T (p.Leu103Phe)
c.262C>T (p.Leu88Phe)
c.36C>T (p.Ala12=)
c.-4294966933C>T
2g.232528326T>ACA350997511CHRNDc.308T>A (p.Leu103His)
c.263T>A (p.Leu88His)
c.37T>A (p.Ser13Thr)
c.-4294966932T>A
2g.232528326T>CCA350997512CHRNDc.308T>C (p.Leu103Pro)
c.263T>C (p.Leu88Pro)
c.37T>C (p.Ser13Pro)
c.-4294966932T>C
2g.232528326T>GCA350997513CHRNDc.308T>G (p.Leu103Arg)
c.263T>G (p.Leu88Arg)
c.37T>G (p.Ser13Ala)
c.-4294966932T>G
2g.232528326T=CA1335310433CHRNDc.308T= (p.Leu103=)
c.263T= (p.Leu88=)
c.37T= (p.Ser13=)
c.-4294966932T=
2g.232528327C>ACA431952099CHRNDc.309C>A (p.Leu103=)
c.264C>A (p.Leu88=)
c.38C>A (p.Ser13Tyr)
c.-4294966931C>A
2g.232528327C>GCA431952101CHRNDc.309C>G (p.Leu103=)
c.264C>G (p.Leu88=)
c.38C>G (p.Ser13Cys)
c.-4294966931C>G
2g.232528327C>TCA431952100CHRNDc.309C>T (p.Leu103=)
c.264C>T (p.Leu88=)
c.38C>T (p.Ser13Phe)
c.-4294966931C>T
 gnomAD v4
2g.232528332dupCA766132518CHRNDc.314dup (p.Asp106GlyfsTer15)
c.314dup (p.Asp106GlyfsTer?)
c.269dup (p.Asp91GlyfsTer15)
c.43dup (p.Arg15ProfsTer?)
c.43dup (p.Arg15ProfsTer5)
c.-4294966926dup
 dbSNP gnomAD v3 gnomAD v4
2g.232528332delCA2663620461CHRNDc.314del (p.Pro105ArgfsTer?)
c.269del (p.Pro90ArgfsTer?)
c.43del (p.Arg15GlyfsTer15)
c.43del (p.Arg15GlyfsTer?)
c.-4294966926del
 gnomAD v4
2g.232528328C>ACA350997516CHRNDc.310C>A (p.Pro104Thr)
c.265C>A (p.Pro89Thr)
c.39C>A (p.Ser13=)
c.-4294966930C>A
2g.232528328C=CA1335310434CHRNDc.310C= (p.Pro104=)
c.265C= (p.Pro89=)
c.39C= (p.Ser13=)
c.-4294966930C=
2g.232528328C>GCA350997515CHRNDc.310C>G (p.Pro104Ala)
c.265C>G (p.Pro89Ala)
c.39C>G (p.Ser13=)
c.-4294966930C>G
2g.232528328C>TCA350997514CHRNDc.310C>T (p.Pro104Ser)
c.265C>T (p.Pro89Ser)
c.39C>T (p.Ser13=)
c.-4294966930C>T
 dbSNP gnomAD v2 gnomAD v4
2g.232528329C>ACA350997517CHRNDc.311C>A (p.Pro104His)
c.266C>A (p.Pro89His)
c.40C>A (p.Pro14Thr)
c.-4294966929C>A
2g.232528329C>GCA350997518CHRNDc.311C>G (p.Pro104Arg)
c.266C>G (p.Pro89Arg)
c.40C>G (p.Pro14Ala)
c.-4294966929C>G
2g.232528329C>TCA350997519CHRNDc.311C>T (p.Pro104Leu)
c.266C>T (p.Pro89Leu)
c.40C>T (p.Pro14Ser)
c.-4294966929C>T
 gnomAD v4
2g.232528330C>ACA431952102CHRNDc.312C>A (p.Pro104=)
c.267C>A (p.Pro89=)
c.41C>A (p.Pro14His)
c.-4294966928C>A
 gnomAD v4
2g.232528330C=CA1335310435CHRNDc.312C= (p.Pro104=)
c.267C= (p.Pro89=)
c.41C= (p.Pro14=)
c.-4294966928C=
2g.232528330C>GCA431952103CHRNDc.312C>G (p.Pro104=)
c.267C>G (p.Pro89=)
c.41C>G (p.Pro14Arg)
c.-4294966928C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232528330C>TCA431952104CHRNDc.312C>T (p.Pro104=)
c.267C>T (p.Pro89=)
c.41C>T (p.Pro14Leu)
c.-4294966928C>T
 gnomAD v4
2g.232528331C>ACA350997520CHRNDc.313C>A (p.Pro105Thr)
c.268C>A (p.Pro90Thr)
c.42C>A (p.Pro14=)
c.-4294966927C>A
2g.232528331C>GCA350997521CHRNDc.313C>G (p.Pro105Ala)
c.268C>G (p.Pro90Ala)
c.42C>G (p.Pro14=)
c.-4294966927C>G
2g.232528331C>TCA350997522CHRNDc.313C>T (p.Pro105Ser)
c.268C>T (p.Pro90Ser)
c.42C>T (p.Pro14=)
c.-4294966927C>T
2g.232528332C>ACA350997523CHRNDc.314C>A (p.Pro105Gln)
c.269C>A (p.Pro90Gln)
c.43C>A (p.Arg15=)
c.-4294966926C>A
2g.232528332C=CA1335310436CHRNDc.314C= (p.Pro105=)
c.269C= (p.Pro90=)
c.43C= (p.Arg15=)
c.-4294966926C=
2g.232528332C>GCA2167986CHRNDc.314C>G (p.Pro105Arg)
c.269C>G (p.Pro90Arg)
c.43C>G (p.Arg15Gly)
c.-4294966926C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.232528332C>TCA2167985CHRNDc.314C>T (p.Pro105Leu)
c.269C>T (p.Pro90Leu)
c.43C>T (p.Arg15Trp)
c.-4294966926C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232528333G>ACA2167987CHRNDc.315G>A (p.Pro105=)
c.270G>A (p.Pro90=)
c.44G>A (p.Arg15Gln)
c.-4294966925G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232528333G>CCA431952106CHRNDc.315G>C (p.Pro105=)
c.270G>C (p.Pro90=)
c.44G>C (p.Arg15Pro)
c.-4294966925G>C
 dbSNP
2g.232528333G=CA1335310437CHRNDc.315G= (p.Pro105=)
c.270G= (p.Pro90=)
c.44G= (p.Arg15=)
c.-4294966925G=
2g.232528333G>TCA431952107CHRNDc.315G>T (p.Pro105=)
c.270G>T (p.Pro90=)
c.44G>T (p.Arg15Leu)
c.-4294966925G>T
2g.232528334dupCA2580066060CHRNDc.316dup (p.Asp106GlyfsTer15)
c.316dup (p.Asp106GlyfsTer?)
c.271dup (p.Asp91GlyfsTer15)
c.45dup (p.Thr16AspfsTer?)
c.45dup (p.Thr16AspfsTer4)
c.-4294966924dup
 ClinVar
2g.232528334G>ACA350997524CHRNDc.316G>A (p.Asp106Asn)
c.271G>A (p.Asp91Asn)
c.45G>A (p.Arg15=)
c.-4294966924G>A
2g.232528334G>CCA350997525CHRNDc.316G>C (p.Asp106His)
c.271G>C (p.Asp91His)
c.45G>C (p.Arg15=)
c.-4294966924G>C
2g.232528334G>TCA350997526CHRNDc.316G>T (p.Asp106Tyr)
c.271G>T (p.Asp91Tyr)
c.45G>T (p.Arg15=)
c.-4294966924G>T
2g.232528335A=CA1335310438CHRNDc.317A= (p.Asp106=)
c.272A= (p.Asp91=)
c.46A= (p.Thr16=)
c.-4294966923A=
2g.232528335A>CCA350997528CHRNDc.317A>C (p.Asp106Ala)
c.272A>C (p.Asp91Ala)
c.46A>C (p.Thr16Pro)
c.-4294966923A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232528335A>GCA350997529CHRNDc.317A>G (p.Asp106Gly)
c.272A>G (p.Asp91Gly)
c.46A>G (p.Thr16Ala)
c.-4294966923A>G
2g.232528335A>TCA350997527CHRNDc.317A>T (p.Asp106Val)
c.272A>T (p.Asp91Val)
c.46A>T (p.Thr16Ser)
c.-4294966923A>T
2g.232528336C>ACA350997531CHRNDc.318C>A (p.Asp106Glu)
c.273C>A (p.Asp91Glu)
c.47C>A (p.Thr16Lys)
c.-4294966922C>A
2g.232528336C>GCA350997530CHRNDc.318C>G (p.Asp106Glu)
c.273C>G (p.Asp91Glu)
c.47C>G (p.Thr16Arg)
c.-4294966922C>G
 COSMIC
2g.232528336C>TCA431952109CHRNDc.318C>T (p.Asp106=)
c.273C>T (p.Asp91=)
c.47C>T (p.Thr16Ile)
c.-4294966922C>T
2g.232528337A>CCA350997534CHRNDc.319A>C (p.Met107Leu)
c.274A>C (p.Met92Leu)
c.48A>C (p.Thr16=)
c.-4294966921A>C
2g.232528337A>GCA350997532CHRNDc.319A>G (p.Met107Val)
c.274A>G (p.Met92Val)
c.48A>G (p.Thr16=)
c.-4294966921A>G
 gnomAD v4
2g.232528337A>TCA350997533CHRNDc.319A>T (p.Met107Leu)
c.274A>T (p.Met92Leu)
c.48A>T (p.Thr16=)
c.-4294966921A>T
2g.232528338T>ACA350997535CHRNDc.320T>A (p.Met107Lys)
c.275T>A (p.Met92Lys)
c.49T>A (p.Trp17Arg)
c.49T>A (p.Cys17Ser)
c.-4294966920T>A
2g.232528338T>CCA350997536CHRNDc.320T>C (p.Met107Thr)
c.275T>C (p.Met92Thr)
c.49T>C (p.Trp17Arg)
c.49T>C (p.Cys17Arg)
c.-4294966920T>C
 dbSNP gnomAD v2 gnomAD v4
2g.232528338T>GCA350997537CHRNDc.320T>G (p.Met107Arg)
c.275T>G (p.Met92Arg)
c.49T>G (p.Trp17Gly)
c.49T>G (p.Cys17Gly)
c.-4294966920T>G
2g.232528338T=CA1335310439CHRNDc.320T= (p.Met107=)
c.275T= (p.Met92=)
c.49T= (p.Trp17=)
c.49T= (p.Cys17=)
c.-4294966920T=
2g.232528339G>ACA350997539CHRNDc.321G>A (p.Met107Ile)
c.276G>A (p.Met92Ile)
c.50G>A (p.Trp17Ter)
c.50G>A (p.Cys17Tyr)
c.-4294966919G>A
 dbSNP gnomAD v4
2g.232528339G>CCA350997538CHRNDc.321G>C (p.Met107Ile)
c.276G>C (p.Met92Ile)
c.50G>C (p.Trp17Ser)
c.50G>C (p.Cys17Ser)
c.-4294966919G>C
2g.232528339G=CA1335310440CHRNDc.321G= (p.Met107=)
c.276G= (p.Met92=)
c.50G= (p.Trp17=)
c.50G= (p.Cys17=)
c.-4294966919G=
2g.232528339G>TCA2167988CHRNDc.321G>T (p.Met107Ile)
c.276G>T (p.Met92Ile)
c.50G>T (p.Trp17Leu)
c.50G>T (p.Cys17Phe)
c.-4294966919G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232528339_232528340delinsAACA645534503CHRNDc.321_322delinsAA (p.Met107_Val108delinsIleMet)
c.321_321+1delinsAA
c.276_277delinsAA (p.Met92_Val93delinsIleMet)
c.50_51delinsAA (p.Trp17Ter)
c.50_50+1delinsAA
c.-4294966919_-4294966918delinsAA
c.-4294966919_-4294966919+1delinsAA
 COSMIC
2g.232528340G>ACA350997540CHRNDc.322G>A (p.Val108Met)
c.321+1G>A (n.321+1G>A)
c.277G>A (p.Val93Met)
c.51G>A (p.Trp17Ter)
c.50+1G>A (n.50+1G>A)
c.-4294966918G>A
c.-4294966919+1G>A
2g.232528340G>CCA350997541CHRNDc.322G>C (p.Val108Leu)
c.321+1G>C (n.321+1G>C)
c.277G>C (p.Val93Leu)
c.51G>C (p.Trp17Cys)
c.50+1G>C (n.50+1G>C)
c.-4294966918G>C
c.-4294966919+1G>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.232528340G=CA1335310441CHRNDc.322G= (p.Val108=)
c.321+1G= (n.321+1G=)
c.277G= (p.Val93=)
c.51G= (p.Trp17=)
c.50+1G= (n.50+1G=)
c.-4294966918G=
c.-4294966919+1G=
2g.232528340G>TCA350997542CHRNDc.322G>T (p.Val108Leu)
c.321+1G>T (n.321+1G>T)
c.277G>T (p.Val93Leu)
c.51G>T (p.Trp17Cys)
c.50+1G>T (n.50+1G>T)
c.-4294966918G>T
c.-4294966919+1G>T
2g.232528341T>ACA350997543CHRNDc.323T>A (p.Val108Glu)
c.321+2T>A (n.321+2T>A)
c.278T>A (p.Val93Glu)
c.52T>A (p.Cys18Ser)
c.50+2T>A (n.50+2T>A)
c.-4294966917T>A
c.-4294966919+2T>A
2g.232528341T>CCA350997544CHRNDc.323T>C (p.Val108Ala)
c.321+2T>C (n.321+2T>C)
c.278T>C (p.Val93Ala)
c.52T>C (p.Cys18Arg)
c.50+2T>C (n.50+2T>C)
c.-4294966917T>C
c.-4294966919+2T>C
2g.232528341T>GCA350997545CHRNDc.323T>G (p.Val108Gly)
c.321+2T>G (n.321+2T>G)
c.278T>G (p.Val93Gly)
c.52T>G (p.Cys18Gly)
c.50+2T>G (n.50+2T>G)
c.-4294966917T>G
c.-4294966919+2T>G
2g.232528342G>ACA16617495CHRNDc.324G>A (p.Val108=)
c.321+3G>A (n.321+3G>A)
c.279G>A (p.Val93=)
c.53G>A (p.Cys18Tyr)
c.50+3G>A (n.50+3G>A)
c.-4294966916G>A
c.-4294966919+3G>A
 ClinVar dbSNP
2g.232528342G>CCA431952114CHRNDc.324G>C (p.Val108=)
c.321+3G>C (n.321+3G>C)
c.279G>C (p.Val93=)
c.53G>C (p.Cys18Ser)
c.50+3G>C (n.50+3G>C)
c.-4294966916G>C
c.-4294966919+3G>C
2g.232528342G=CA1335310442CHRNDc.324G= (p.Val108=)
c.321+3G= (n.321+3G=)
c.279G= (p.Val93=)
c.53G= (p.Cys18=)
c.50+3G= (n.50+3G=)
c.-4294966916G=
c.-4294966919+3G=
2g.232528342G>TCA431952113CHRNDc.324G>T (p.Val108=)
c.321+3G>T (n.321+3G>T)
c.279G>T (p.Val93=)
c.53G>T (p.Cys18Phe)
c.50+3G>T (n.50+3G>T)
c.-4294966916G>T
c.-4294966919+3G>T
2g.232528343T>ACA350997548CHRNDc.325T>A (p.Trp109Arg)
c.321+4T>A (n.321+4T>A)
c.280T>A (p.Trp94Arg)
c.54T>A (p.Cys18Ter)
c.50+4T>A (n.50+4T>A)
c.-4294966915T>A
c.-4294966919+4T>A
2g.232528343T>CCA350997546CHRNDc.325T>C (p.Trp109Arg)
c.321+4T>C (n.321+4T>C)
c.280T>C (p.Trp94Arg)
c.54T>C (p.Cys18=)
c.50+4T>C (n.50+4T>C)
c.-4294966915T>C
c.-4294966919+4T>C
2g.232528343T>GCA350997547CHRNDc.325T>G (p.Trp109Gly)
c.321+4T>G (n.321+4T>G)
c.280T>G (p.Trp94Gly)
c.54T>G (p.Cys18Trp)
c.50+4T>G (n.50+4T>G)
c.-4294966915T>G
c.-4294966919+4T>G
2g.232528344G>ACA350997549CHRNDc.326G>A (p.Trp109Ter)
c.321+5G>A (n.321+5G>A)
c.281G>A (p.Trp94Ter)
c.55G>A (p.Gly19Ser)
c.50+5G>A (n.50+5G>A)
c.-4294966914G>A
c.-4294966919+5G>A
2g.232528344G>CCA350997550CHRNDc.326G>C (p.Trp109Ser)
c.321+5G>C (n.321+5G>C)
c.281G>C (p.Trp94Ser)
c.55G>C (p.Gly19Arg)
c.50+5G>C (n.50+5G>C)
c.-4294966914G>C
c.-4294966919+5G>C
2g.232528344G>TCA350997551CHRNDc.326G>T (p.Trp109Leu)
c.321+5G>T (n.321+5G>T)
c.281G>T (p.Trp94Leu)
c.55G>T (p.Gly19Cys)
c.50+5G>T (n.50+5G>T)
c.-4294966914G>T
c.-4294966919+5G>T
2g.232528345G>ACA350997552CHRNDc.327G>A (p.Trp109Ter)
c.321+6G>A (n.321+6G>A)
c.282G>A (p.Trp94Ter)
c.56G>A (p.Gly19Asp)
c.50+6G>A (n.50+6G>A)
c.-4294966913G>A
c.-4294966919+6G>A
 gnomAD v4
2g.232528345G>CCA350997553CHRNDc.327G>C (p.Trp109Cys)
c.321+6G>C (n.321+6G>C)
c.282G>C (p.Trp94Cys)
c.56G>C (p.Gly19Ala)
c.50+6G>C (n.50+6G>C)
c.-4294966913G>C
c.-4294966919+6G>C
2g.232528345G>TCA350997554CHRNDc.327G>T (p.Trp109Cys)
c.321+6G>T (n.321+6G>T)
c.282G>T (p.Trp94Cys)
c.56G>T (p.Gly19Val)
c.50+6G>T (n.50+6G>T)
c.-4294966913G>T
c.-4294966919+6G>T
2g.232528346C>ACA350997555CHRNDc.328C>A (p.Leu110Ile)
c.321+7C>A (n.321+7C>A)
c.283C>A (p.Leu95Ile)
c.57C>A (p.Gly19=)
c.50+7C>A (n.50+7C>A)
c.-4294966912C>A
c.-4294966919+7C>A
2g.232528346C>GCA350997556CHRNDc.328C>G (p.Leu110Val)
c.321+7C>G (n.321+7C>G)
c.283C>G (p.Leu95Val)
c.57C>G (p.Gly19=)
c.50+7C>G (n.50+7C>G)
c.-4294966912C>G
c.-4294966919+7C>G
2g.232528346C>TCA350997557CHRNDc.328C>T (p.Leu110Phe)
c.321+7C>T (n.321+7C>T)
c.283C>T (p.Leu95Phe)
c.57C>T (p.Gly19=)
c.50+7C>T (n.50+7C>T)
c.-4294966912C>T
c.-4294966919+7C>T
2g.232528347T>ACA350997558CHRNDc.329T>A (p.Leu110His)
c.321+8T>A (n.321+8T>A)
c.284T>A (p.Leu95His)
c.58T>A (p.Ser20Thr)
c.50+8T>A (n.50+8T>A)
c.-4294966911T>A
c.-4294966919+8T>A
2g.232528347T>CCA350997559CHRNDc.329T>C (p.Leu110Pro)
c.321+8T>C (n.321+8T>C)
c.284T>C (p.Leu95Pro)
c.58T>C (p.Ser20Pro)
c.50+8T>C (n.50+8T>C)
c.-4294966911T>C
c.-4294966919+8T>C
2g.232528347T>GCA350997560CHRNDc.329T>G (p.Leu110Arg)
c.321+8T>G (n.321+8T>G)
c.284T>G (p.Leu95Arg)
c.58T>G (p.Ser20Ala)
c.50+8T>G (n.50+8T>G)
c.-4294966911T>G
c.-4294966919+8T>G
2g.232528348C>ACA431952119CHRNDc.330C>A (p.Leu110=)
c.321+9C>A (n.321+9C>A)
c.285C>A (p.Leu95=)
c.59C>A (p.Ser20Tyr)
c.50+9C>A (n.50+9C>A)
c.-4294966910C>A
c.-4294966919+9C>A
2g.232528348C>GCA431952120CHRNDc.330C>G (p.Leu110=)
c.321+9C>G (n.321+9C>G)
c.285C>G (p.Leu95=)
c.59C>G (p.Ser20Cys)
c.50+9C>G (n.50+9C>G)
c.-4294966910C>G
c.-4294966919+9C>G
2g.232528348C>TCA431952121CHRNDc.330C>T (p.Leu110=)
c.321+9C>T (n.321+9C>T)
c.285C>T (p.Leu95=)
c.59C>T (p.Ser20Phe)
c.50+9C>T (n.50+9C>T)
c.-4294966910C>T
c.-4294966919+9C>T
2g.232528349C>ACA350997561CHRNDc.331C>A (p.Pro111Thr)
c.321+10C>A (n.321+10C>A)
c.286C>A (p.Pro96Thr)
c.60C>A (p.Ser20=)
c.50+10C>A (n.50+10C>A)
c.-4294966909C>A
c.-4294966919+10C>A
2g.232528349C>GCA350997563CHRNDc.331C>G (p.Pro111Ala)
c.321+10C>G (n.321+10C>G)
c.286C>G (p.Pro96Ala)
c.60C>G (p.Ser20=)
c.50+10C>G (n.50+10C>G)
c.-4294966909C>G
c.-4294966919+10C>G
2g.232528349C>TCA350997562CHRNDc.331C>T (p.Pro111Ser)
c.321+10C>T (n.321+10C>T)
c.286C>T (p.Pro96Ser)
c.60C>T (p.Ser20=)
c.50+10C>T (n.50+10C>T)
c.-4294966909C>T
c.-4294966919+10C>T
2g.232528350C>ACA350997564CHRNDc.332C>A (p.Pro111Gln)
c.321+11C>A (n.321+11C>A)
c.287C>A (p.Pro96Gln)
c.61C>A (p.Gln21Lys)
c.50+11C>A (n.50+11C>A)
c.-4294966908C>A
c.-4294966919+11C>A
2g.232528350C=CA1335310443CHRNDc.332C= (p.Pro111=)
c.321+11C= (n.321+11C=)
c.287C= (p.Pro96=)
c.61C= (p.Gln21=)
c.50+11C= (n.50+11C=)
c.-4294966908C=
c.-4294966919+11C=
2g.232528350C>GCA350997565CHRNDc.332C>G (p.Pro111Arg)
c.321+11C>G (n.321+11C>G)
c.287C>G (p.Pro96Arg)
c.61C>G (p.Gln21Glu)
c.50+11C>G (n.50+11C>G)
c.-4294966908C>G
c.-4294966919+11C>G
2g.232528350C>TCA2167989CHRNDc.332C>T (p.Pro111Leu)
c.321+11C>T (n.321+11C>T)
c.287C>T (p.Pro96Leu)
c.61C>T (p.Gln21Ter)
c.50+11C>T (n.50+11C>T)
c.-4294966908C>T
c.-4294966919+11C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232528351A=CA1335310444CHRNDc.333A= (p.Pro111=)
c.321+12A= (n.321+12A=)
c.288A= (p.Pro96=)
c.62A= (p.Gln21=)
c.50+12A= (n.50+12A=)
c.-4294966907A=
c.-4294966919+12A=
2g.232528351A>CCA431952123CHRNDc.333A>C (p.Pro111=)
c.321+12A>C (n.321+12A>C)
c.288A>C (p.Pro96=)
c.62A>C (p.Gln21Pro)
c.50+12A>C (n.50+12A>C)
c.-4294966907A>C
c.-4294966919+12A>C
 dbSNP
2g.232528351A>GCA431952124CHRNDc.333A>G (p.Pro111=)
c.321+12A>G (n.321+12A>G)
c.288A>G (p.Pro96=)
c.62A>G (p.Gln21Arg)
c.50+12A>G (n.50+12A>G)
c.-4294966907A>G
c.-4294966919+12A>G
 gnomAD v4
2g.232528351A>TCA431952125CHRNDc.333A>T (p.Pro111=)
c.321+12A>T (n.321+12A>T)
c.288A>T (p.Pro96=)
c.62A>T (p.Gln21Leu)
c.50+12A>T (n.50+12A>T)
c.-4294966907A>T
c.-4294966919+12A>T
2g.232528352G>ACA350997566CHRNDc.334G>A (p.Glu112Lys)
c.321+13G>A (n.321+13G>A)
c.289G>A (p.Glu97Lys)
c.63G>A (p.Gln21=)
c.50+13G>A (n.50+13G>A)
c.-4294966906G>A
c.-4294966919+13G>A
2g.232528352G>CCA350997567CHRNDc.334G>C (p.Glu112Gln)
c.321+13G>C (n.321+13G>C)
c.289G>C (p.Glu97Gln)
c.63G>C (p.Gln21His)
c.50+13G>C (n.50+13G>C)
c.-4294966906G>C
c.-4294966919+13G>C
2g.232528352G=CA1335310445CHRNDc.334G= (p.Glu112=)
c.321+13G= (n.321+13G=)
c.289G= (p.Glu97=)
c.63G= (p.Gln21=)
c.50+13G= (n.50+13G=)
c.-4294966906G=
c.-4294966919+13G=
2g.232528352G>TCA350997568CHRNDc.334G>T (p.Glu112Ter)
c.321+13G>T (n.321+13G>T)
c.289G>T (p.Glu97Ter)
c.63G>T (p.Gln21His)
c.50+13G>T (n.50+13G>T)
c.-4294966906G>T
c.-4294966919+13G>T
 dbSNP
2g.232528353A>CCA350997569CHRNDc.335A>C (p.Glu112Ala)
c.321+14A>C (n.321+14A>C)
c.290A>C (p.Glu97Ala)
c.64A>C (p.Arg22=)
c.50+14A>C (n.50+14A>C)
c.-4294966905A>C
c.-4294966919+14A>C
2g.232528353A>GCA350997570CHRNDc.335A>G (p.Glu112Gly)
c.321+14A>G (n.321+14A>G)
c.290A>G (p.Glu97Gly)
c.64A>G (p.Arg22Gly)
c.50+14A>G (n.50+14A>G)
c.-4294966905A>G
c.-4294966919+14A>G
2g.232528353A>TCA350997571CHRNDc.335A>T (p.Glu112Val)
c.321+14A>T (n.321+14A>T)
c.290A>T (p.Glu97Val)
c.64A>T (p.Arg22Ter)
c.50+14A>T (n.50+14A>T)
c.-4294966905A>T
c.-4294966919+14A>T
2g.232528354G>ACA431952126CHRNDc.336G>A (p.Glu112=)
c.321+15G>A (n.321+15G>A)
c.291G>A (p.Glu97=)
c.65G>A (p.Arg22Lys)
c.50+15G>A (n.50+15G>A)
c.-4294966904G>A
c.-4294966919+15G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232528354G>CCA350997572CHRNDc.336G>C (p.Glu112Asp)
c.321+15G>C (n.321+15G>C)
c.291G>C (p.Glu97Asp)
c.65G>C (p.Arg22Thr)
c.50+15G>C (n.50+15G>C)
c.-4294966904G>C
c.-4294966919+15G>C
2g.232528354G=CA1335310446CHRNDc.336G= (p.Glu112=)
c.321+15G= (n.321+15G=)
c.291G= (p.Glu97=)
c.65G= (p.Arg22=)
c.50+15G= (n.50+15G=)
c.-4294966904G=
c.-4294966919+15G=
2g.232528354G>TCA350997573CHRNDc.336G>T (p.Glu112Asp)
c.321+15G>T (n.321+15G>T)
c.291G>T (p.Glu97Asp)
c.65G>T (p.Arg22Ile)
c.50+15G>T (n.50+15G>T)
c.-4294966904G>T
c.-4294966919+15G>T
2g.232528355A>CCA350997576CHRNDc.337A>C (p.Ile113Leu)
c.321+16A>C (n.321+16A>C)
c.292A>C (p.Ile98Leu)
c.66A>C (p.Arg22Ser)
c.50+16A>C (n.50+16A>C)
c.-4294966903A>C
c.-4294966919+16A>C
2g.232528355A>GCA350997575CHRNDc.337A>G (p.Ile113Val)
c.321+16A>G (n.321+16A>G)
c.292A>G (p.Ile98Val)
c.66A>G (p.Arg22=)
c.50+16A>G (n.50+16A>G)
c.-4294966903A>G
c.-4294966919+16A>G
2g.232528355A>TCA350997574CHRNDc.337A>T (p.Ile113Phe)
c.321+16A>T (n.321+16A>T)
c.292A>T (p.Ile98Phe)
c.66A>T (p.Arg22Ser)
c.50+16A>T (n.50+16A>T)
c.-4294966903A>T
c.-4294966919+16A>T
2g.232528356T>ACA350997577CHRNDc.338T>A (p.Ile113Asn)
c.321+17T>A (n.321+17T>A)
c.293T>A (p.Ile98Asn)
c.67T>A (p.Leu23Met)
c.50+17T>A (n.50+17T>A)
c.-4294966902T>A
c.-4294966919+17T>A
2g.232528356T>CCA350997578CHRNDc.338T>C (p.Ile113Thr)
c.321+17T>C (n.321+17T>C)
c.293T>C (p.Ile98Thr)
c.67T>C (p.Leu23=)
c.50+17T>C (n.50+17T>C)
c.-4294966902T>C
c.-4294966919+17T>C
2g.232528356T>GCA350997579CHRNDc.338T>G (p.Ile113Ser)
c.321+17T>G (n.321+17T>G)
c.293T>G (p.Ile98Ser)
c.67T>G (p.Leu23Val)
c.50+17T>G (n.50+17T>G)
c.-4294966902T>G
c.-4294966919+17T>G
2g.232528357T>ACA431952130CHRNDc.339T>A (p.Ile113=)
c.321+18T>A (n.321+18T>A)
c.294T>A (p.Ile98=)
c.68T>A (p.Leu23Ter)
c.50+18T>A (n.50+18T>A)
c.-4294966901T>A
c.-4294966919+18T>A
2g.232528357T>CCA431952131CHRNDc.339T>C (p.Ile113=)
c.321+18T>C (n.321+18T>C)
c.294T>C (p.Ile98=)
c.68T>C (p.Leu23Ser)
c.50+18T>C (n.50+18T>C)
c.-4294966901T>C
c.-4294966919+18T>C
2g.232528357T>GCA350997580CHRNDc.339T>G (p.Ile113Met)
c.321+18T>G (n.321+18T>G)
c.294T>G (p.Ile98Met)
c.68T>G (p.Leu23Trp)
c.50+18T>G (n.50+18T>G)
c.-4294966901T>G
c.-4294966919+18T>G
2g.232528359_232528360delCA2577277808CHRNDc.341_342del (p.Val114AlafsTer6)
c.321+20_321+21del (n.321+20_321+21del)
c.296_297del (p.Val99AlafsTer6)
c.70_71del (p.Cys24LeufsTer?)
c.50+20_50+21del (n.50+20_50+21del)
c.-4294966899_-4294966898del
c.-4294966919+20_-4294966919+21del
2g.232528358G>ACA350997581CHRNDc.340G>A (p.Val114Met)
c.321+19G>A (n.321+19G>A)
c.295G>A (p.Val99Met)
c.69G>A (p.Leu23=)
c.50+19G>A (n.50+19G>A)
c.-4294966900G>A
c.-4294966919+19G>A
2g.232528358G>CCA2167990CHRNDc.340G>C (p.Val114Leu)
c.321+19G>C (n.321+19G>C)
c.295G>C (p.Val99Leu)
c.69G>C (p.Leu23Phe)
c.50+19G>C (n.50+19G>C)
c.-4294966900G>C
c.-4294966919+19G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232528358G=CA1335310447CHRNDc.340G= (p.Val114=)
c.321+19G= (n.321+19G=)
c.295G= (p.Val99=)
c.69G= (p.Leu23=)
c.50+19G= (n.50+19G=)
c.-4294966900G=
c.-4294966919+19G=
2g.232528358G>TCA350997582CHRNDc.340G>T (p.Val114Leu)
c.321+19G>T (n.321+19G>T)
c.295G>T (p.Val99Leu)
c.69G>T (p.Leu23Phe)
c.50+19G>T (n.50+19G>T)
c.-4294966900G>T
c.-4294966919+19G>T
2g.232528359T>ACA350997583CHRNDc.341T>A (p.Val114Glu)
c.321+20T>A (n.321+20T>A)
c.296T>A (p.Val99Glu)
c.70T>A (p.Cys24Ser)
c.50+20T>A (n.50+20T>A)
c.-4294966899T>A
c.-4294966919+20T>A
2g.232528359T>CCA350997584CHRNDc.341T>C (p.Val114Ala)
c.321+20T>C (n.321+20T>C)
c.296T>C (p.Val99Ala)
c.70T>C (p.Cys24Arg)
c.50+20T>C (n.50+20T>C)
c.-4294966899T>C
c.-4294966919+20T>C
 gnomAD v4
2g.232528359T>GCA350997585CHRNDc.341T>G (p.Val114Gly)
c.321+20T>G (n.321+20T>G)
c.296T>G (p.Val99Gly)
c.70T>G (p.Cys24Gly)
c.50+20T>G (n.50+20T>G)
c.-4294966899T>G
c.-4294966919+20T>G
2g.232528360G>ACA431952137CHRNDc.342G>A (p.Val114=)
c.321+21G>A (n.321+21G>A)
c.297G>A (p.Val99=)
c.71G>A (p.Cys24Tyr)
c.50+21G>A (n.50+21G>A)
c.-4294966898G>A
c.-4294966919+21G>A
 dbSNP gnomAD v3 gnomAD v4
2g.232528360G>CCA431952136CHRNDc.342G>C (p.Val114=)
c.321+21G>C (n.321+21G>C)
c.297G>C (p.Val99=)
c.71G>C (p.Cys24Ser)
c.50+21G>C (n.50+21G>C)
c.-4294966898G>C
c.-4294966919+21G>C
2g.232528360G=CA1335310448CHRNDc.342G= (p.Val114=)
c.321+21G= (n.321+21G=)
c.297G= (p.Val99=)
c.71G= (p.Cys24=)
c.50+21G= (n.50+21G=)
c.-4294966898G=
c.-4294966919+21G=
2g.232528360G>TCA431952135CHRNDc.342G>T (p.Val114=)
c.321+21G>T (n.321+21G>T)
c.297G>T (p.Val99=)
c.71G>T (p.Cys24Phe)
c.50+21G>T (n.50+21G>T)
c.-4294966898G>T
c.-4294966919+21G>T
2g.232528361C>ACA350997586CHRNDc.343C>A (p.Leu115Met)
c.321+22C>A (n.321+22C>A)
c.298C>A (p.Leu100Met)
c.72C>A (p.Cys24Ter)
c.50+22C>A (n.50+22C>A)
c.-4294966897C>A
c.-4294966919+22C>A
2g.232528361C>GCA350997587CHRNDc.343C>G (p.Leu115Val)
c.321+22C>G (n.321+22C>G)
c.298C>G (p.Leu100Val)
c.72C>G (p.Cys24Trp)
c.50+22C>G (n.50+22C>G)
c.-4294966897C>G
c.-4294966919+22C>G
2g.232528361C>TCA431952141CHRNDc.343C>T (p.Leu115=)
c.321+22C>T (n.321+22C>T)
c.298C>T (p.Leu100=)
c.72C>T (p.Cys24=)
c.50+22C>T (n.50+22C>T)
c.-4294966897C>T
c.-4294966919+22C>T
 gnomAD v4
2g.232528362T>ACA350997589CHRNDc.344T>A (p.Leu115Gln)
c.321+23T>A (n.321+23T>A)
c.299T>A (p.Leu100Gln)
c.73T>A (p.Trp25Arg)
c.50+23T>A (n.50+23T>A)
c.-4294966896T>A
c.-4294966919+23T>A
2g.232528362T>CCA350997590CHRNDc.344T>C (p.Leu115Pro)
c.321+23T>C (n.321+23T>C)
c.299T>C (p.Leu100Pro)
c.73T>C (p.Trp25Arg)
c.50+23T>C (n.50+23T>C)
c.-4294966896T>C
c.-4294966919+23T>C
2g.232528362T>GCA350997588CHRNDc.344T>G (p.Leu115Arg)
c.321+23T>G (n.321+23T>G)
c.299T>G (p.Leu100Arg)
c.73T>G (p.Trp25Gly)
c.50+23T>G (n.50+23T>G)
c.-4294966896T>G
c.-4294966919+23T>G
2g.232528363G>ACA431952142CHRNDc.345G>A (p.Leu115=)
c.321+24G>A (n.321+24G>A)
c.300G>A (p.Leu100=)
c.74G>A (p.Trp25Ter)
c.50+24G>A (n.50+24G>A)
c.-4294966895G>A
c.-4294966919+24G>A
2g.232528363G>CCA431952144CHRNDc.345G>C (p.Leu115=)
c.321+24G>C (n.321+24G>C)
c.300G>C (p.Leu100=)
c.74G>C (p.Trp25Ser)
c.50+24G>C (n.50+24G>C)
c.-4294966895G>C
c.-4294966919+24G>C
2g.232528363G>TCA431952145CHRNDc.345G>T (p.Leu115=)
c.321+24G>T (n.321+24G>T)
c.300G>T (p.Leu100=)
c.74G>T (p.Trp25Leu)
c.50+24G>T (n.50+24G>T)
c.-4294966895G>T
c.-4294966919+24G>T
2g.232528364G>ACA350997593CHRNDc.346G>A (p.Glu116Lys)
c.321+25G>A (n.321+25G>A)
c.301G>A (p.Glu101Lys)
c.75G>A (p.Trp25Ter)
c.50+25G>A (n.50+25G>A)
c.-4294966894G>A
c.-4294966919+25G>A
2g.232528364G>CCA350997591CHRNDc.346G>C (p.Glu116Gln)
c.321+25G>C (n.321+25G>C)
c.301G>C (p.Glu101Gln)
c.75G>C (p.Trp25Cys)
c.50+25G>C (n.50+25G>C)
c.-4294966894G>C
c.-4294966919+25G>C
 gnomAD v4
2g.232528364G>TCA350997592CHRNDc.346G>T (p.Glu116Ter)
c.321+25G>T (n.321+25G>T)
c.301G>T (p.Glu101Ter)
c.75G>T (p.Trp25Cys)
c.50+25G>T (n.50+25G>T)
c.-4294966894G>T
c.-4294966919+25G>T
2g.232528365A>CCA350997594CHRNDc.347A>C (p.Glu116Ala)
c.321+26A>C (n.321+26A>C)
c.302A>C (p.Glu101Ala)
c.76A>C (p.Arg26=)
c.50+26A>C (n.50+26A>C)
c.-4294966893A>C
c.-4294966919+26A>C
2g.232528365A>GCA350997595CHRNDc.347A>G (p.Glu116Gly)
c.321+26A>G (n.321+26A>G)
c.302A>G (p.Glu101Gly)
c.76A>G (p.Arg26Gly)
c.50+26A>G (n.50+26A>G)
c.-4294966893A>G
c.-4294966919+26A>G
2g.232528365A>TCA350997596CHRNDc.347A>T (p.Glu116Val)
c.321+26A>T (n.321+26A>T)
c.302A>T (p.Glu101Val)
c.76A>T (p.Arg26Ter)
c.50+26A>T (n.50+26A>T)
c.-4294966893A>T
c.-4294966919+26A>T
2g.232528366G>ACA431952147CHRNDc.348G>A (p.Glu116=)
c.321+27G>A (n.321+27G>A)
c.303G>A (p.Glu101=)
c.77G>A (p.Arg26Lys)
c.50+27G>A (n.50+27G>A)
c.-4294966892G>A
c.-4294966919+27G>A
 ClinVar dbSNP gnomAD v4
2g.232528366G>CCA350997597CHRNDc.348G>C (p.Glu116Asp)
c.321+27G>C (n.321+27G>C)
c.303G>C (p.Glu101Asp)
c.77G>C (p.Arg26Thr)
c.50+27G>C (n.50+27G>C)
c.-4294966892G>C
c.-4294966919+27G>C
 gnomAD v4
2g.232528366G=CA1335310449CHRNDc.348G= (p.Glu116=)
c.321+27G= (n.321+27G=)
c.303G= (p.Glu101=)
c.77G= (p.Arg26=)
c.50+27G= (n.50+27G=)
c.-4294966892G=
c.-4294966919+27G=
2g.232528366G>TCA350997598CHRNDc.348G>T (p.Glu116Asp)
c.321+27G>T (n.321+27G>T)
c.303G>T (p.Glu101Asp)
c.77G>T (p.Arg26Ile)
c.50+27G>T (n.50+27G>T)
c.-4294966892G>T
c.-4294966919+27G>T
2g.232528367A>CCA350997599CHRNDc.349A>C (p.Asn117His)
c.321+28A>C (n.321+28A>C)
c.304A>C (p.Asn102His)
c.78A>C (p.Arg26Ser)
c.50+28A>C (n.50+28A>C)
c.-4294966891A>C
c.-4294966919+28A>C
2g.232528367A>GCA350997600CHRNDc.349A>G (p.Asn117Asp)
c.321+28A>G (n.321+28A>G)
c.304A>G (p.Asn102Asp)
c.78A>G (p.Arg26=)
c.50+28A>G (n.50+28A>G)
c.-4294966891A>G
c.-4294966919+28A>G
2g.232528367A>TCA350997601CHRNDc.349A>T (p.Asn117Tyr)
c.321+28A>T (n.321+28A>T)
c.304A>T (p.Asn102Tyr)
c.78A>T (p.Arg26Ser)
c.50+28A>T (n.50+28A>T)
c.-4294966891A>T
c.-4294966919+28A>T
2g.232528368A>CCA350997602CHRNDc.350A>C (p.Asn117Thr)
c.321+29A>C (n.321+29A>C)
c.305A>C (p.Asn102Thr)
c.79A>C (p.Thr27Pro)
c.50+29A>C (n.50+29A>C)
c.-4294966890A>C
c.-4294966919+29A>C
2g.232528368A>GCA350997603CHRNDc.350A>G (p.Asn117Ser)
c.321+29A>G (n.321+29A>G)
c.305A>G (p.Asn102Ser)
c.79A>G (p.Thr27Ala)
c.50+29A>G (n.50+29A>G)
c.-4294966890A>G
c.-4294966919+29A>G
2g.232528368A>TCA350997604CHRNDc.350A>T (p.Asn117Ile)
c.321+29A>T (n.321+29A>T)
c.305A>T (p.Asn102Ile)
c.79A>T (p.Thr27Ser)
c.50+29A>T (n.50+29A>T)
c.-4294966890A>T
c.-4294966919+29A>T
2g.232528369C>ACA350997606CHRNDc.351C>A (p.Asn117Lys)
c.321+30C>A (n.321+30C>A)
c.306C>A (p.Asn102Lys)
c.80C>A (p.Thr27Lys)
c.50+30C>A (n.50+30C>A)
c.-4294966889C>A
c.-4294966919+30C>A
 dbSNP gnomAD v4
2g.232528369C=CA1335310450CHRNDc.351C= (p.Asn117=)
c.321+30C= (n.321+30C=)
c.306C= (p.Asn102=)
c.80C= (p.Thr27=)
c.50+30C= (n.50+30C=)
c.-4294966889C=
c.-4294966919+30C=
2g.232528369C>GCA350997605CHRNDc.351C>G (p.Asn117Lys)
c.321+30C>G (n.321+30C>G)
c.306C>G (p.Asn102Lys)
c.80C>G (p.Thr27Arg)
c.50+30C>G (n.50+30C>G)
c.-4294966889C>G
c.-4294966919+30C>G
2g.232528369C>TCA431952150CHRNDc.351C>T (p.Asn117=)
c.321+30C>T (n.321+30C>T)
c.306C>T (p.Asn102=)
c.80C>T (p.Thr27Ile)
c.50+30C>T (n.50+30C>T)
c.-4294966889C>T
c.-4294966919+30C>T
2g.232528370A>CCA350997607CHRNDc.352A>C (p.Asn118His)
c.321+31A>C (n.321+31A>C)
c.307A>C (p.Asn103His)
c.81A>C (p.Thr27=)
c.50+31A>C (n.50+31A>C)
c.-4294966888A>C
c.-4294966919+31A>C
2g.232528370A>GCA350997608CHRNDc.352A>G (p.Asn118Asp)
c.321+31A>G (n.321+31A>G)
c.307A>G (p.Asn103Asp)
c.81A>G (p.Thr27=)
c.50+31A>G (n.50+31A>G)
c.-4294966888A>G
c.-4294966919+31A>G
2g.232528370A>TCA350997609CHRNDc.352A>T (p.Asn118Tyr)
c.321+31A>T (n.321+31A>T)
c.307A>T (p.Asn103Tyr)
c.81A>T (p.Thr27=)
c.50+31A>T (n.50+31A>T)
c.-4294966888A>T
c.-4294966919+31A>T
2g.232528371A>CCA350997610CHRNDc.353A>C (p.Asn118Thr)
c.321+32A>C (n.321+32A>C)
c.308A>C (p.Asn103Thr)
c.82A>C (p.Thr28Pro)
c.50+32A>C (n.50+32A>C)
c.-4294966887A>C
c.-4294966919+32A>C
2g.232528371A>GCA350997611CHRNDc.353A>G (p.Asn118Ser)
c.321+32A>G (n.321+32A>G)
c.308A>G (p.Asn103Ser)
c.82A>G (p.Thr28Ala)
c.50+32A>G (n.50+32A>G)
c.-4294966887A>G
c.-4294966919+32A>G
2g.232528371A>TCA350997612CHRNDc.353A>T (p.Asn118Ile)
c.321+32A>T (n.321+32A>T)
c.308A>T (p.Asn103Ile)
c.82A>T (p.Thr28Ser)
c.50+32A>T (n.50+32A>T)
c.-4294966887A>T
c.-4294966919+32A>T
2g.232528372G>ACA350997613CHRNDc.353+1G>A (n.353+1G>A)
c.321+33G>A (n.321+33G>A)
c.308+1G>A (n.308+1G>A)
c.82+1G>A (n.82+1G>A)
c.50+33G>A (n.50+33G>A)
c.-4294966887+1G>A
c.-4294966919+33G>A
2g.232528372G>CCA350997614CHRNDc.353+1G>C (n.353+1G>C)
c.321+33G>C (n.321+33G>C)
c.308+1G>C (n.308+1G>C)
c.82+1G>C (n.82+1G>C)
c.50+33G>C (n.50+33G>C)
c.-4294966887+1G>C
c.-4294966919+33G>C
2g.232528372G>TCA350997615CHRNDc.353+1G>T (n.353+1G>T)
c.321+33G>T (n.321+33G>T)
c.308+1G>T (n.308+1G>T)
c.82+1G>T (n.82+1G>T)
c.50+33G>T (n.50+33G>T)
c.-4294966887+1G>T
c.-4294966919+33G>T
2g.232528373T>ACA350997616CHRNDc.353+2T>A (n.353+2T>A)
c.321+34T>A (n.321+34T>A)
c.308+2T>A (n.308+2T>A)
c.82+2T>A (n.82+2T>A)
c.50+34T>A (n.50+34T>A)
c.-4294966887+2T>A
c.-4294966919+34T>A
2g.232528373T>CCA350997617CHRNDc.353+2T>C (n.353+2T>C)
c.321+34T>C (n.321+34T>C)
c.308+2T>C (n.308+2T>C)
c.82+2T>C (n.82+2T>C)
c.50+34T>C (n.50+34T>C)
c.-4294966887+2T>C
c.-4294966919+34T>C
2g.232528373T>GCA350997618CHRNDc.353+2T>G (n.353+2T>G)
c.321+34T>G (n.321+34T>G)
c.308+2T>G (n.308+2T>G)
c.82+2T>G (n.82+2T>G)
c.50+34T>G (n.50+34T>G)
c.-4294966887+2T>G
c.-4294966919+34T>G
2g.232528375G>ACA2663620488CHRNDc.353+4G>A (n.353+4G>A)
c.321+36G>A (n.321+36G>A)
c.308+4G>A (n.308+4G>A)
c.82+4G>A (n.82+4G>A)
c.50+36G>A (n.50+36G>A)
c.-4294966887+4G>A
c.-4294966919+36G>A
 gnomAD v4
2g.232528375G>CCA66951674CHRNDc.353+4G>C (n.353+4G>C)
c.321+36G>C (n.321+36G>C)
c.308+4G>C (n.308+4G>C)
c.82+4G>C (n.82+4G>C)
c.50+36G>C (n.50+36G>C)
c.-4294966887+4G>C
c.-4294966919+36G>C
 dbSNP
2g.232528375G=CA1335310451CHRNDc.353+4G= (n.353+4G=)
c.321+36G= (n.321+36G=)
c.308+4G= (n.308+4G=)
c.82+4G= (n.82+4G=)
c.50+36G= (n.50+36G=)
c.-4294966887+4G=
c.-4294966919+36G=
2g.232528382G>ACA2577277809CHRNDc.353+11G>A (n.353+11G>A)
c.321+43G>A (n.321+43G>A)
c.308+11G>A (n.308+11G>A)
c.82+11G>A (n.82+11G>A)
c.50+43G>A (n.50+43G>A)
c.-4294966887+11G>A
c.-4294966919+43G>A
2g.232528383C>ACA1043465448CHRNDc.353+12C>A (n.353+12C>A)
c.321+44C>A (n.321+44C>A)
c.308+12C>A (n.308+12C>A)
c.82+12C>A (n.82+12C>A)
c.50+44C>A (n.50+44C>A)
c.-4294966887+12C>A
c.-4294966919+44C>A
 dbSNP gnomAD v3 gnomAD v4
2g.232528383C=CA1335310452CHRNDc.353+12C= (n.353+12C=)
c.321+44C= (n.321+44C=)
c.308+12C= (n.308+12C=)
c.82+12C= (n.82+12C=)
c.50+44C= (n.50+44C=)
c.-4294966887+12C=
c.-4294966919+44C=
2g.232528383C>GCA2663620490CHRNDc.353+12C>G (n.353+12C>G)
c.321+44C>G (n.321+44C>G)
c.308+12C>G (n.308+12C>G)
c.82+12C>G (n.82+12C>G)
c.50+44C>G (n.50+44C>G)
c.-4294966887+12C>G
c.-4294966919+44C>G
 gnomAD v4
2g.232528384C=CA1335310453CHRNDc.353+13C= (n.353+13C=)
c.321+45C= (n.321+45C=)
c.308+13C= (n.308+13C=)
c.82+13C= (n.82+13C=)
c.50+45C= (n.50+45C=)
c.-4294966887+13C=
c.-4294966919+45C=
2g.232528384C>TCA1335310454CHRNDc.353+13C>T (n.353+13C>T)
c.321+45C>T (n.321+45C>T)
c.308+13C>T (n.308+13C>T)
c.82+13C>T (n.82+13C>T)
c.50+45C>T (n.50+45C>T)
c.-4294966887+13C>T
c.-4294966919+45C>T
 dbSNP gnomAD v4
2g.232528385C=CA1335310455CHRNDc.353+14C= (n.353+14C=)
c.321+46C= (n.321+46C=)
c.308+14C= (n.308+14C=)
c.82+14C= (n.82+14C=)
c.50+46C= (n.50+46C=)
c.-4294966887+14C=
c.-4294966919+46C=
2g.232528385C>GCA2167991CHRNDc.353+14C>G (n.353+14C>G)
c.321+46C>G (n.321+46C>G)
c.308+14C>G (n.308+14C>G)
c.82+14C>G (n.82+14C>G)
c.50+46C>G (n.50+46C>G)
c.-4294966887+14C>G
c.-4294966919+46C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232528385C>TCA2663620496CHRNDc.353+14C>T (n.353+14C>T)
c.321+46C>T (n.321+46C>T)
c.308+14C>T (n.308+14C>T)
c.82+14C>T (n.82+14C>T)
c.50+46C>T (n.50+46C>T)
c.-4294966887+14C>T
c.-4294966919+46C>T
 gnomAD v4
2g.232528389C=CA1335310456CHRNDc.353+18C= (n.353+18C=)
c.321+50C= (n.321+50C=)
c.308+18C= (n.308+18C=)
c.82+18C= (n.82+18C=)
c.50+50C= (n.50+50C=)
c.-4294966887+18C=
c.-4294966919+50C=
2g.232528389C>TCA540309759CHRNDc.353+18C>T (n.353+18C>T)
c.321+50C>T (n.321+50C>T)
c.308+18C>T (n.308+18C>T)
c.82+18C>T (n.82+18C>T)
c.50+50C>T (n.50+50C>T)
c.-4294966887+18C>T
c.-4294966919+50C>T
 dbSNP gnomAD v2 gnomAD v4
2g.232528392A=CA1335310457CHRNDc.353+21A= (n.353+21A=)
c.321+53A= (n.321+53A=)
c.308+21A= (n.308+21A=)
c.82+21A= (n.82+21A=)
c.50+53A= (n.50+53A=)
c.-4294966887+21A=
c.-4294966919+53A=
2g.232528392A>CCA1335310458CHRNDc.353+21A>C (n.353+21A>C)
c.321+53A>C (n.321+53A>C)
c.308+21A>C (n.308+21A>C)
c.82+21A>C (n.82+21A>C)
c.50+53A>C (n.50+53A>C)
c.-4294966887+21A>C
c.-4294966919+53A>C
 dbSNP
2g.232528393C>ACA766132653CHRNDc.353+22C>A (n.353+22C>A)
c.321+54C>A (n.321+54C>A)
c.308+22C>A (n.308+22C>A)
c.82+22C>A (n.82+22C>A)
c.50+54C>A (n.50+54C>A)
c.-4294966887+22C>A
c.-4294966919+54C>A
 dbSNP gnomAD v3 gnomAD v4
2g.232528393C=CA1335310459CHRNDc.353+22C= (n.353+22C=)
c.321+54C= (n.321+54C=)
c.308+22C= (n.308+22C=)
c.82+22C= (n.82+22C=)
c.50+54C= (n.50+54C=)
c.-4294966887+22C=
c.-4294966919+54C=
2g.232528393C>TCA2663620498CHRNDc.353+22C>T (n.353+22C>T)
c.321+54C>T (n.321+54C>T)
c.308+22C>T (n.308+22C>T)
c.82+22C>T (n.82+22C>T)
c.50+54C>T (n.50+54C>T)
c.-4294966887+22C>T
c.-4294966919+54C>T
 gnomAD v4
2g.232528396C=CA1335310460CHRNDc.353+25C= (n.353+25C=)
c.321+57C= (n.321+57C=)
c.308+25C= (n.308+25C=)
c.82+25C= (n.82+25C=)
c.50+57C= (n.50+57C=)
c.-4294966887+25C=
c.-4294966919+57C=
2g.232528396C>GCA2167992CHRNDc.353+25C>G (n.353+25C>G)
c.321+57C>G (n.321+57C>G)
c.308+25C>G (n.308+25C>G)
c.82+25C>G (n.82+25C>G)
c.50+57C>G (n.50+57C>G)
c.-4294966887+25C>G
c.-4294966919+57C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232528399delCA2663620499CHRNDc.353+28del (n.353+28del)
c.321+60del (n.321+60del)
c.308+28del (n.308+28del)
c.82+28del (n.82+28del)
c.50+60del (n.50+60del)
c.-4294966887+28del
c.-4294966919+60del
 gnomAD v4
2g.232528397C=CA1335310461CHRNDc.353+26C= (n.353+26C=)
c.321+58C= (n.321+58C=)
c.308+26C= (n.308+26C=)
c.82+26C= (n.82+26C=)
c.50+58C= (n.50+58C=)
c.-4294966887+26C=
c.-4294966919+58C=
2g.232528397C>TCA1043465455CHRNDc.353+26C>T (n.353+26C>T)
c.321+58C>T (n.321+58C>T)
c.308+26C>T (n.308+26C>T)
c.82+26C>T (n.82+26C>T)
c.50+58C>T (n.50+58C>T)
c.-4294966887+26C>T
c.-4294966919+58C>T
 dbSNP gnomAD v3 gnomAD v4
2g.232528398C>TCA2663620504CHRNDc.353+27C>T (n.353+27C>T)
c.321+59C>T (n.321+59C>T)
c.308+27C>T (n.308+27C>T)
c.82+27C>T (n.82+27C>T)
c.50+59C>T (n.50+59C>T)
c.-4294966887+27C>T
c.-4294966919+59C>T
 gnomAD v4
2g.232528401_232528402delCA2754657214CHRNDc.353+30_353+31del (n.353+30_353+31del)
c.321+62_321+63del (n.321+62_321+63del)
c.308+30_308+31del (n.308+30_308+31del)
c.82+30_82+31del (n.82+30_82+31del)
c.50+62_50+63del (n.50+62_50+63del)
c.-4294966887+30_-4294966887+31del
c.-4294966919+62_-4294966919+63del
2g.232528400T>CCA1043465457CHRNDc.353+29T>C (n.353+29T>C)
c.321+61T>C (n.321+61T>C)
c.308+29T>C (n.308+29T>C)
c.82+29T>C (n.82+29T>C)
c.50+61T>C (n.50+61T>C)
c.-4294966887+29T>C
c.-4294966919+61T>C
 dbSNP gnomAD v3 gnomAD v4
2g.232528400T=CA1335310462CHRNDc.353+29T= (n.353+29T=)
c.321+61T= (n.321+61T=)
c.308+29T= (n.308+29T=)
c.82+29T= (n.82+29T=)
c.50+61T= (n.50+61T=)
c.-4294966887+29T=
c.-4294966919+61T=
2g.232528401C>TCA2663620505CHRNDc.353+30C>T (n.353+30C>T)
c.321+62C>T (n.321+62C>T)
c.308+30C>T (n.308+30C>T)
c.82+30C>T (n.82+30C>T)
c.50+62C>T (n.50+62C>T)
c.-4294966887+30C>T
c.-4294966919+62C>T
 gnomAD v4

Number of alleles fetched