Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232543001_232543003delCA2663625800CHRNGc.724_726del (p.Leu242del)
c.568_570del (p.Leu190del)
 gnomAD v4
2g.232543003C>ACA431810964CHRNGc.726C>A (p.Leu242=)
c.570C>A (p.Leu190=)
2g.232543003C=CA1335317528CHRNGc.726C= (p.Leu242=)
c.570C= (p.Leu190=)
2g.232543003C>GCA431810965CHRNGc.726C>G (p.Leu242=)
c.570C>G (p.Leu190=)
2g.232543003C>TCA431810966CHRNGc.726C>T (p.Leu242=)
c.570C>T (p.Leu190=)
 dbSNP
2g.232543004T>ACA351012062CHRNGc.727T>A (p.Phe243Ile)
c.571T>A (p.Phe191Ile)
2g.232543004T>CCA351012064CHRNGc.727T>C (p.Phe243Leu)
c.571T>C (p.Phe191Leu)
2g.232543004T>GCA351012065CHRNGc.727T>G (p.Phe243Val)
c.571T>G (p.Phe191Val)
2g.232543005T>ACA351012069CHRNGc.728T>A (p.Phe243Tyr)
c.572T>A (p.Phe191Tyr)
2g.232543005T>CCA351012067CHRNGc.728T>C (p.Phe243Ser)
c.572T>C (p.Phe191Ser)
2g.232543005T>GCA351012068CHRNGc.728T>G (p.Phe243Cys)
c.572T>G (p.Phe191Cys)
2g.232543005_232543006delinsTCCA1335317529CHRNGc.728_729delinsTC (p.Phe243=)
c.572_573delinsTC (p.Phe191=)
2g.232543006delCA540310122CHRNGc.729del (p.Tyr244ThrfsTer?)
c.573del (p.Tyr192ThrfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.232543006C>ACA351012075CHRNGc.729C>A (p.Phe243Leu)
c.573C>A (p.Phe191Leu)
2g.232543006C=CA1335317530CHRNGc.729C= (p.Phe243=)
c.573C= (p.Phe191=)
2g.232543006C>GCA351012077CHRNGc.729C>G (p.Phe243Leu)
c.573C>G (p.Phe191Leu)
 dbSNP
2g.232543006C>TCA431810967CHRNGc.729C>T (p.Phe243=)
c.573C>T (p.Phe191=)
2g.232543007T>ACA351012079CHRNGc.730T>A (p.Tyr244Asn)
c.574T>A (p.Tyr192Asn)
2g.232543007T>CCA351012081CHRNGc.730T>C (p.Tyr244His)
c.574T>C (p.Tyr192His)
2g.232543007T>GCA351012083CHRNGc.730T>G (p.Tyr244Asp)
c.574T>G (p.Tyr192Asp)
2g.232543007T=CA1335317531CHRNGc.730T= (p.Tyr244=)
c.574T= (p.Tyr192=)
2g.232543008A>CCA351012093CHRNGc.731A>C (p.Tyr244Ser)
c.575A>C (p.Tyr192Ser)
2g.232543008A>GCA351012090CHRNGc.731A>G (p.Tyr244Cys)
c.575A>G (p.Tyr192Cys)
2g.232543008A>TCA351012089CHRNGc.731A>T (p.Tyr244Phe)
c.575A>T (p.Tyr192Phe)
2g.232543008dupCA2168778CHRNGc.731dup (p.Tyr244Ter)
c.575dup (p.Tyr192Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232543009C>ACA351012095CHRNGc.732C>A (p.Tyr244Ter)
c.576C>A (p.Tyr192Ter)
2g.232543009C=CA1335317532CHRNGc.732C= (p.Tyr244=)
c.576C= (p.Tyr192=)
2g.232543009C>GCA351012098CHRNGc.732C>G (p.Tyr244Ter)
c.576C>G (p.Tyr192Ter)
2g.232543009C>TCA2168779CHRNGc.732C>T (p.Tyr244=)
c.576C>T (p.Tyr192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543010G>ACA2168781CHRNGc.733G>A (p.Val245Ile)
c.577G>A (p.Val193Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543010G>CCA351012102CHRNGc.733G>C (p.Val245Leu)
c.577G>C (p.Val193Leu)
2g.232543010G=CA1335317533CHRNGc.733G= (p.Val245=)
c.577G= (p.Val193=)
2g.232543010G>TCA351012103CHRNGc.733G>T (p.Val245Phe)
c.577G>T (p.Val193Phe)
2g.232543010_232543013delinsGTCACA1335317534CHRNGc.733_736delinsGTCA (p.Val245=)
c.577_580delinsGTCA (p.Val193=)
2g.232543011T>ACA351012106CHRNGc.734T>A (p.Val245Asp)
c.578T>A (p.Val193Asp)
2g.232543011T>CCA351012107CHRNGc.734T>C (p.Val245Ala)
c.578T>C (p.Val193Ala)
2g.232543011T>GCA351012109CHRNGc.734T>G (p.Val245Gly)
c.578T>G (p.Val193Gly)
2g.232543014_232543016delCA2168780CHRNGc.737_739del (p.Ile246del)
c.581_583del (p.Ile194del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543011_232543017delinsTCATCAACA1335317535CHRNGc.734_740delinsTCATCAA (p.Val245=)
c.578_584delinsTCATCAA (p.Val193=)
2g.232543012C>ACA431810972CHRNGc.735C>A (p.Val245=)
c.579C>A (p.Val193=)
2g.232543012C=CA1335317536CHRNGc.735C= (p.Val245=)
c.579C= (p.Val193=)
2g.232543012C>GCA431810973CHRNGc.735C>G (p.Val245=)
c.579C>G (p.Val193=)
2g.232543012C>TCA2168783CHRNGc.735C>T (p.Val245=)
c.579C>T (p.Val193=)
 dbSNP ExAC gnomAD v2
2g.232543017_232543022delCA2168782CHRNGc.740_745del (p.Asn247_Ile248del)
c.584_589del (p.Asn195_Ile196del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543013A=CA1335317537CHRNGc.736A= (p.Ile246=)
c.580A= (p.Ile194=)
2g.232543013A>CCA351012117CHRNGc.736A>C (p.Ile246Leu)
c.580A>C (p.Ile194Leu)
2g.232543013A>GCA351012118CHRNGc.736A>G (p.Ile246Val)
c.580A>G (p.Ile194Val)
2g.232543013A>TCA351012120CHRNGc.736A>T (p.Ile246Phe)
c.580A>T (p.Ile194Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.232543014T>ACA2168784CHRNGc.737T>A (p.Ile246Asn)
c.581T>A (p.Ile194Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543014T>CCA351012122CHRNGc.737T>C (p.Ile246Thr)
c.581T>C (p.Ile194Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.232543014T>GCA351012123CHRNGc.737T>G (p.Ile246Ser)
c.581T>G (p.Ile194Ser)
2g.232543014T=CA1335317538CHRNGc.737T= (p.Ile246=)
c.581T= (p.Ile194=)
2g.232543014_232543017delinsTCAACA1335317539CHRNGc.737_740delinsTCAA (p.Ile246=)
c.581_584delinsTCAA (p.Ile194=)
2g.232543015C>ACA431810975CHRNGc.738C>A (p.Ile246=)
c.582C>A (p.Ile194=)
2g.232543015C>GCA351012127CHRNGc.738C>G (p.Ile246Met)
c.582C>G (p.Ile194Met)
2g.232543015C>TCA431810974CHRNGc.738C>T (p.Ile246=)
c.582C>T (p.Ile194=)
 gnomAD v4
2g.232543017_232543019delCA351012129CHRNGc.740_742del (p.Asn247del)
c.584_586del (p.Asn195del)
 dbSNP
2g.232543015_232543016insTCA2577278447CHRNGc.738_739insT (p.Asn247Ter)
c.582_583insT (p.Asn195Ter)
2g.232543016A>CCA351012133CHRNGc.739A>C (p.Asn247His)
c.583A>C (p.Asn195His)
2g.232543016A>GCA351012135CHRNGc.739A>G (p.Asn247Asp)
c.583A>G (p.Asn195Asp)
2g.232543016A>TCA351012139CHRNGc.739A>T (p.Asn247Tyr)
c.583A>T (p.Asn195Tyr)
2g.232543017A>CCA351012146CHRNGc.740A>C (p.Asn247Thr)
c.584A>C (p.Asn195Thr)
2g.232543017A>GCA351012141CHRNGc.740A>G (p.Asn247Ser)
c.584A>G (p.Asn195Ser)
2g.232543017A>TCA351012144CHRNGc.740A>T (p.Asn247Ile)
c.584A>T (p.Asn195Ile)
2g.232543018C>ACA351012148CHRNGc.741C>A (p.Asn247Lys)
c.585C>A (p.Asn195Lys)
2g.232543018C>GCA351012151CHRNGc.741C>G (p.Asn247Lys)
c.585C>G (p.Asn195Lys)
2g.232543018C>TCA431810978CHRNGc.741C>T (p.Asn247=)
c.585C>T (p.Asn195=)
2g.232543019A=CA1335317540CHRNGc.742A= (p.Ile248=)
c.586A= (p.Ile196=)
2g.232543019A>CCA351012153CHRNGc.742A>C (p.Ile248Leu)
c.586A>C (p.Ile196Leu)
2g.232543019A>GCA351012156CHRNGc.742A>G (p.Ile248Val)
c.586A>G (p.Ile196Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232543019A>TCA351012157CHRNGc.742A>T (p.Ile248Phe)
c.586A>T (p.Ile196Phe)
2g.232543020T>ACA351012160CHRNGc.743T>A (p.Ile248Asn)
c.587T>A (p.Ile196Asn)
 gnomAD v4
2g.232543020T>CCA351012165CHRNGc.743T>C (p.Ile248Thr)
c.587T>C (p.Ile196Thr)
2g.232543020T>GCA351012162CHRNGc.743T>G (p.Ile248Ser)
c.587T>G (p.Ile196Ser)
2g.232543021C>ACA431810979CHRNGc.744C>A (p.Ile248=)
c.588C>A (p.Ile196=)
2g.232543021C>GCA351012167CHRNGc.744C>G (p.Ile248Met)
c.588C>G (p.Ile196Met)
2g.232543021C>TCA431810980CHRNGc.744C>T (p.Ile248=)
c.588C>T (p.Ile196=)
 gnomAD v4
2g.232543022A=CA1335317541CHRNGc.745A= (p.Ile249=)
c.589A= (p.Ile197=)
2g.232543022A>CCA351012170CHRNGc.745A>C (p.Ile249Leu)
c.589A>C (p.Ile197Leu)
2g.232543022A>GCA351012173CHRNGc.745A>G (p.Ile249Val)
c.589A>G (p.Ile197Val)
2g.232543022A>TCA351012175CHRNGc.745A>T (p.Ile249Phe)
c.589A>T (p.Ile197Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.232543023T>ACA351012178CHRNGc.746T>A (p.Ile249Asn)
c.590T>A (p.Ile197Asn)
2g.232543023T>CCA351012179CHRNGc.746T>C (p.Ile249Thr)
c.590T>C (p.Ile197Thr)
2g.232543023T>GCA351012180CHRNGc.746T>G (p.Ile249Ser)
c.590T>G (p.Ile197Ser)
2g.232543024C>ACA431810988CHRNGc.747C>A (p.Ile249=)
c.591C>A (p.Ile197=)
 ClinVar
2g.232543024C=CA1335317542CHRNGc.747C= (p.Ile249=)
c.591C= (p.Ile197=)
2g.232543024C>GCA351012183CHRNGc.747C>G (p.Ile249Met)
c.591C>G (p.Ile197Met)
 gnomAD v4
2g.232543024C>TCA2168785CHRNGc.747C>T (p.Ile249=)
c.591C>T (p.Ile197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.232543025G>ACA351012186CHRNGc.748G>A (p.Ala250Thr)
c.592G>A (p.Ala198Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.232543025G>CCA351012188CHRNGc.748G>C (p.Ala250Pro)
c.592G>C (p.Ala198Pro)
2g.232543025G=CA1335317543CHRNGc.748G= (p.Ala250=)
c.592G= (p.Ala198=)
2g.232543025G>TCA351012189CHRNGc.748G>T (p.Ala250Ser)
c.592G>T (p.Ala198Ser)
2g.232543026C>ACA351012196CHRNGc.749C>A (p.Ala250Asp)
c.593C>A (p.Ala198Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.232543026C=CA1335317544CHRNGc.749C= (p.Ala250=)
c.593C= (p.Ala198=)
2g.232543026C>GCA351012192CHRNGc.749C>G (p.Ala250Gly)
c.593C>G (p.Ala198Gly)
2g.232543026C>TCA351012193CHRNGc.749C>T (p.Ala250Val)
c.593C>T (p.Ala198Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232543030delCA431810990CHRNGc.753del (p.Cys252ValfsTer?)
c.597del (p.Cys200ValfsTer?)
 COSMIC
2g.232543027C>ACA431810993CHRNGc.750C>A (p.Ala250=)
c.594C>A (p.Ala198=)
2g.232543027C>GCA431810992CHRNGc.750C>G (p.Ala250=)
c.594C>G (p.Ala198=)
2g.232543027C>TCA431810991CHRNGc.750C>T (p.Ala250=)
c.594C>T (p.Ala198=)
 gnomAD v4
2g.232543028C>ACA351012197CHRNGc.751C>A (p.Pro251Thr)
c.595C>A (p.Pro199Thr)
2g.232543028C>GCA351012198CHRNGc.751C>G (p.Pro251Ala)
c.595C>G (p.Pro199Ala)
2g.232543028C>TCA351012199CHRNGc.751C>T (p.Pro251Ser)
c.595C>T (p.Pro199Ser)
2g.232543029C>ACA351012202CHRNGc.752C>A (p.Pro251His)
c.596C>A (p.Pro199His)
 dbSNP gnomAD v2 gnomAD v4
2g.232543029C=CA1335317545CHRNGc.752C= (p.Pro251=)
c.596C= (p.Pro199=)
2g.232543029C>GCA351012204CHRNGc.752C>G (p.Pro251Arg)
c.596C>G (p.Pro199Arg)
 gnomAD v4
2g.232543029C>TCA2168786CHRNGc.752C>T (p.Pro251Leu)
c.596C>T (p.Pro199Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543029_232543031delinsCCTCA1335317546CHRNGc.752_754delinsCCT (p.Pro251=)
c.596_598delinsCCT (p.Pro199=)
2g.232543030C>ACA431810995CHRNGc.753C>A (p.Pro251=)
c.597C>A (p.Pro199=)
2g.232543030C>GCA431810996CHRNGc.753C>G (p.Pro251=)
c.597C>G (p.Pro199=)
2g.232543030C>TCA431810997CHRNGc.753C>T (p.Pro251=)
c.597C>T (p.Pro199=)
2g.232543030_232543031delCA213183CHRNGc.753_754del (p.Val253AlafsTer?)
c.597_598del (p.Val201AlafsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543030_232543031dupCA1335317547CHRNGc.753_754dup (p.Cys252SerfsTer?)
c.597_598dup (p.Cys200SerfsTer?)
 dbSNP
2g.232543031T>ACA351012208CHRNGc.754T>A (p.Cys252Ser)
c.598T>A (p.Cys200Ser)
2g.232543031T>CCA2168787CHRNGc.754T>C (p.Cys252Arg)
c.598T>C (p.Cys200Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543031T>GCA351012211CHRNGc.754T>G (p.Cys252Gly)
c.598T>G (p.Cys200Gly)
2g.232543031T=CA1335317548CHRNGc.754T= (p.Cys252=)
c.598T= (p.Cys200=)
2g.232543035_232543036delCA351012214CHRNGc.758_759del (p.Val253AlafsTer?)
c.602_603del (p.Val201AlafsTer?)
2g.232543032G>ACA351012218CHRNGc.755G>A (p.Cys252Tyr)
c.599G>A (p.Cys200Tyr)
 gnomAD v4
2g.232543032G>CCA351012220CHRNGc.755G>C (p.Cys252Ser)
c.599G>C (p.Cys200Ser)
2g.232543032G>TCA351012223CHRNGc.755G>T (p.Cys252Phe)
c.599G>T (p.Cys200Phe)
2g.232543033T>ACA351012226CHRNGc.756T>A (p.Cys252Ter)
c.600T>A (p.Cys200Ter)
2g.232543033T>CCA431811000CHRNGc.756T>C (p.Cys252=)
c.600T>C (p.Cys200=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.232543033T>GCA351012227CHRNGc.756T>G (p.Cys252Trp)
c.600T>G (p.Cys200Trp)
 gnomAD v4
2g.232543033T=CA1335317549CHRNGc.756T= (p.Cys252=)
c.600T= (p.Cys200=)
2g.232543034G>ACA351012230CHRNGc.757G>A (p.Val253Met)
c.601G>A (p.Val201Met)
2g.232543034G>CCA351012232CHRNGc.757G>C (p.Val253Leu)
c.601G>C (p.Val201Leu)
2g.232543034G>TCA351012234CHRNGc.757G>T (p.Val253Leu)
c.601G>T (p.Val201Leu)
2g.232543035T>ACA351012238CHRNGc.758T>A (p.Val253Glu)
c.602T>A (p.Val201Glu)
2g.232543035T>CCA351012240CHRNGc.758T>C (p.Val253Ala)
c.602T>C (p.Val201Ala)
2g.232543035T>GCA351012243CHRNGc.758T>G (p.Val253Gly)
c.602T>G (p.Val201Gly)
2g.232543036G>ACA431811006CHRNGc.759G>A (p.Val253=)
c.603G>A (p.Val201=)
2g.232543036G>CCA431811005CHRNGc.759G>C (p.Val253=)
c.603G>C (p.Val201=)
2g.232543036G>TCA431811004CHRNGc.759G>T (p.Val253=)
c.603G>T (p.Val201=)
2g.232543037C>ACA351012247CHRNGc.760C>A (p.Leu254Ile)
c.604C>A (p.Leu202Ile)
2g.232543037C>GCA351012249CHRNGc.760C>G (p.Leu254Val)
c.604C>G (p.Leu202Val)
2g.232543037C>TCA351012250CHRNGc.760C>T (p.Leu254Phe)
c.604C>T (p.Leu202Phe)
2g.232543040_232543044delCA2663625856CHRNGc.763_767del (p.Ile255LeufsTer?)
c.607_611del (p.Ile203LeufsTer?)
 gnomAD v4
2g.232543038T>ACA351012254CHRNGc.761T>A (p.Leu254His)
c.605T>A (p.Leu202His)
2g.232543038T>CCA351012256CHRNGc.761T>C (p.Leu254Pro)
c.605T>C (p.Leu202Pro)
2g.232543038T>GCA351012260CHRNGc.761T>G (p.Leu254Arg)
c.605T>G (p.Leu202Arg)
2g.232543039C>ACA431811013CHRNGc.762C>A (p.Leu254=)
c.606C>A (p.Leu202=)
2g.232543039C=CA1335317550CHRNGc.762C= (p.Leu254=)
c.606C= (p.Leu202=)
2g.232543039C>GCA431811012CHRNGc.762C>G (p.Leu254=)
c.606C>G (p.Leu202=)
2g.232543039C>TCA431811011CHRNGc.762C>T (p.Leu254=)
c.606C>T (p.Leu202=)
 dbSNP gnomAD v2
2g.232543040A>CCA351012262CHRNGc.763A>C (p.Ile255Leu)
c.607A>C (p.Ile203Leu)
2g.232543040A>GCA351012266CHRNGc.763A>G (p.Ile255Val)
c.607A>G (p.Ile203Val)
2g.232543040A>TCA351012264CHRNGc.763A>T (p.Ile255Phe)
c.607A>T (p.Ile203Phe)
2g.232543041T>ACA2168788CHRNGc.764T>A (p.Ile255Asn)
c.608T>A (p.Ile203Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543041T>CCA351012275CHRNGc.764T>C (p.Ile255Thr)
c.608T>C (p.Ile203Thr)
 gnomAD v4
2g.232543041T>GCA351012277CHRNGc.764T>G (p.Ile255Ser)
c.608T>G (p.Ile203Ser)
2g.232543041T=CA1335317551CHRNGc.764T= (p.Ile255=)
c.608T= (p.Ile203=)
2g.232543042C>ACA431811018CHRNGc.765C>A (p.Ile255=)
c.609C>A (p.Ile203=)
 dbSNP gnomAD v4
2g.232543042C=CA1335317552CHRNGc.765C= (p.Ile255=)
c.609C= (p.Ile203=)
2g.232543042C>GCA351012279CHRNGc.765C>G (p.Ile255Met)
c.609C>G (p.Ile203Met)
2g.232543042C>TCA431811019CHRNGc.765C>T (p.Ile255=)
c.609C>T (p.Ile203=)
 gnomAD v4
2g.232543045_232543047delCA2607609574CHRNGc.768_770del (p.Ser257del)
c.612_614del (p.Ser205del)
 dbSNP gnomAD v3 gnomAD v4
2g.232543043T>ACA351012282CHRNGc.766T>A (p.Ser256Thr)
c.610T>A (p.Ser204Thr)
2g.232543043T>CCA351012285CHRNGc.766T>C (p.Ser256Pro)
c.610T>C (p.Ser204Pro)
2g.232543043T>GCA351012287CHRNGc.766T>G (p.Ser256Ala)
c.610T>G (p.Ser204Ala)
2g.232543044C>ACA351012290CHRNGc.767C>A (p.Ser256Tyr)
c.611C>A (p.Ser204Tyr)
2g.232543044C=CA1335317553CHRNGc.767C= (p.Ser256=)
c.611C= (p.Ser204=)
2g.232543044C>GCA351012293CHRNGc.767C>G (p.Ser256Cys)
c.611C>G (p.Ser204Cys)
2g.232543044C>TCA2168789CHRNGc.767C>T (p.Ser256Phe)
c.611C>T (p.Ser204Phe)
 dbSNP ExAC gnomAD v4
2g.232543045C>ACA431811020CHRNGc.768C>A (p.Ser256=)
c.612C>A (p.Ser204=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.232543045C=CA1335317554CHRNGc.768C= (p.Ser256=)
c.612C= (p.Ser204=)
2g.232543045C>GCA431811021CHRNGc.768C>G (p.Ser256=)
c.612C>G (p.Ser204=)
2g.232543045C>TCA431811022CHRNGc.768C>T (p.Ser256=)
c.612C>T (p.Ser204=)
 COSMIC
2g.232543047_232543048delCA2663625864CHRNGc.770_771del (p.Ser257CysfsTer?)
c.614_615del (p.Ser205CysfsTer?)
 gnomAD v4
2g.232543046T>ACA351012296CHRNGc.769T>A (p.Ser257Thr)
c.613T>A (p.Ser205Thr)
2g.232543046T>CCA351012297CHRNGc.769T>C (p.Ser257Pro)
c.613T>C (p.Ser205Pro)
2g.232543046T>GCA351012300CHRNGc.769T>G (p.Ser257Ala)
c.613T>G (p.Ser205Ala)
2g.232543047delCA2577278455CHRNGc.770del (p.Ser257LeufsTer?)
c.614del (p.Ser205LeufsTer?)
 gnomAD v4
2g.232543047C>ACA351012305CHRNGc.770C>A (p.Ser257Tyr)
c.614C>A (p.Ser205Tyr)
 gnomAD v4
2g.232543047C>GCA351012304CHRNGc.770C>G (p.Ser257Cys)
c.614C>G (p.Ser205Cys)
2g.232543047C>TCA351012303CHRNGc.770C>T (p.Ser257Phe)
c.614C>T (p.Ser205Phe)
2g.232543047_232543048delinsCTCA1335317555CHRNGc.770_771delinsCT (p.Ser257=)
c.614_615delinsCT (p.Ser205=)
2g.232543048delCA540310123CHRNGc.771del (p.Val258SerfsTer?)
c.615del (p.Val206SerfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.232543048T>ACA431811026CHRNGc.771T>A (p.Ser257=)
c.615T>A (p.Ser205=)
2g.232543048T>CCA66968613CHRNGc.771T>C (p.Ser257=)
c.615T>C (p.Ser205=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232543048T>GCA431811028CHRNGc.771T>G (p.Ser257=)
c.615T>G (p.Ser205=)
2g.232543048T=CA1335317556CHRNGc.771T= (p.Ser257=)
c.615T= (p.Ser205=)
2g.232543049G>ACA351012307CHRNGc.772G>A (p.Val258Ile)
c.616G>A (p.Val206Ile)
 gnomAD v4
2g.232543049G>CCA351012309CHRNGc.772G>C (p.Val258Leu)
c.616G>C (p.Val206Leu)
2g.232543049G>TCA351012310CHRNGc.772G>T (p.Val258Phe)
c.616G>T (p.Val206Phe)
2g.232543050T>ACA351012311CHRNGc.773T>A (p.Val258Asp)
c.617T>A (p.Val206Asp)
2g.232543050T>CCA66968614CHRNGc.773T>C (p.Val258Ala)
c.617T>C (p.Val206Ala)
 dbSNP
2g.232543050T>GCA351012314CHRNGc.773T>G (p.Val258Gly)
c.617T>G (p.Val206Gly)
2g.232543050T=CA1335317557CHRNGc.773T= (p.Val258=)
c.617T= (p.Val206=)
2g.232543051C>ACA431811030CHRNGc.774C>A (p.Val258=)
c.618C>A (p.Val206=)
 gnomAD v4
2g.232543051C=CA1335317558CHRNGc.774C= (p.Val258=)
c.618C= (p.Val206=)
2g.232543051C>GCA431811031CHRNGc.774C>G (p.Val258=)
c.618C>G (p.Val206=)
2g.232543051C>TCA66968615CHRNGc.774C>T (p.Val258=)
c.618C>T (p.Val206=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232543052G>ACA247217CHRNGc.775G>A (p.Ala259Thr)
c.619G>A (p.Ala207Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.232543052G>CCA351012317CHRNGc.775G>C (p.Ala259Pro)
c.619G>C (p.Ala207Pro)
2g.232543052G=CA1335317559CHRNGc.775G= (p.Ala259=)
c.619G= (p.Ala207=)
2g.232543052G>TCA351012319CHRNGc.775G>T (p.Ala259Ser)
c.619G>T (p.Ala207Ser)
2g.232543053C>ACA351012322CHRNGc.776C>A (p.Ala259Asp)
c.620C>A (p.Ala207Asp)
 gnomAD v4
2g.232543053C>GCA351012324CHRNGc.776C>G (p.Ala259Gly)
c.620C>G (p.Ala207Gly)
2g.232543053C>TCA351012326CHRNGc.776C>T (p.Ala259Val)
c.620C>T (p.Ala207Val)
2g.232543054C>ACA431811035CHRNGc.777C>A (p.Ala259=)
c.621C>A (p.Ala207=)
2g.232543054C>GCA431811036CHRNGc.777C>G (p.Ala259=)
c.621C>G (p.Ala207=)
2g.232543054C>TCA431811037CHRNGc.777C>T (p.Ala259=)
c.621C>T (p.Ala207=)
 gnomAD v4
2g.232543055A>CCA351012330CHRNGc.778A>C (p.Ile260Leu)
c.622A>C (p.Ile208Leu)
2g.232543055A>GCA351012332CHRNGc.778A>G (p.Ile260Val)
c.622A>G (p.Ile208Val)
 gnomAD v4
2g.232543055A>TCA351012328CHRNGc.778A>T (p.Ile260Phe)
c.622A>T (p.Ile208Phe)
2g.232543056T>ACA351012336CHRNGc.779T>A (p.Ile260Asn)
c.623T>A (p.Ile208Asn)
2g.232543056T>CCA351012338CHRNGc.779T>C (p.Ile260Thr)
c.623T>C (p.Ile208Thr)
2g.232543056T>GCA351012340CHRNGc.779T>G (p.Ile260Ser)
c.623T>G (p.Ile208Ser)
2g.232543057C>ACA431811042CHRNGc.780C>A (p.Ile260=)
c.624C>A (p.Ile208=)
2g.232543057C>GCA351012342CHRNGc.780C>G (p.Ile260Met)
c.624C>G (p.Ile208Met)
2g.232543057C>TCA431811041CHRNGc.780C>T (p.Ile260=)
c.624C>T (p.Ile208=)
 ClinVar
2g.232543058C>ACA351012344CHRNGc.781C>A (p.Leu261Ile)
c.625C>A (p.Leu209Ile)
2g.232543058C=CA1335317560CHRNGc.781C= (p.Leu261=)
c.625C= (p.Leu209=)
2g.232543058C>GCA351012345CHRNGc.781C>G (p.Leu261Val)
c.625C>G (p.Leu209Val)
2g.232543058C>TCA351012346CHRNGc.781C>T (p.Leu261Phe)
c.625C>T (p.Leu209Phe)
 dbSNP
2g.232543059T>ACA351012347CHRNGc.782T>A (p.Leu261His)
c.626T>A (p.Leu209His)
2g.232543059T>CCA351012349CHRNGc.782T>C (p.Leu261Pro)
c.626T>C (p.Leu209Pro)
2g.232543059T>GCA351012351CHRNGc.782T>G (p.Leu261Arg)
c.626T>G (p.Leu209Arg)
 gnomAD v4
2g.232543060C>ACA431811043CHRNGc.783C>A (p.Leu261=)
c.627C>A (p.Leu209=)
2g.232543060C>GCA431811044CHRNGc.783C>G (p.Leu261=)
c.627C>G (p.Leu209=)
2g.232543060C>TCA431811045CHRNGc.783C>T (p.Leu261=)
c.627C>T (p.Leu209=)
2g.232543061A>CCA351012352CHRNGc.784A>C (p.Ile262Leu)
c.628A>C (p.Ile210Leu)
2g.232543061A>GCA351012355CHRNGc.784A>G (p.Ile262Val)
c.628A>G (p.Ile210Val)
 COSMIC
2g.232543061A>TCA351012357CHRNGc.784A>T (p.Ile262Phe)
c.628A>T (p.Ile210Phe)
2g.232543062T>ACA351012360CHRNGc.785T>A (p.Ile262Asn)
c.629T>A (p.Ile210Asn)
2g.232543062T>CCA66968616CHRNGc.785T>C (p.Ile262Thr)
c.629T>C (p.Ile210Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.232543062T>GCA351012364CHRNGc.785T>G (p.Ile262Ser)
c.629T>G (p.Ile210Ser)
2g.232543062T=CA1335317561CHRNGc.785T= (p.Ile262=)
c.629T= (p.Ile210=)
2g.232543063C>ACA431811050CHRNGc.786C>A (p.Ile262=)
c.630C>A (p.Ile210=)
 dbSNP gnomAD v4
2g.232543063C=CA1335317562CHRNGc.786C= (p.Ile262=)
c.630C= (p.Ile210=)
2g.232543063C>GCA351012365CHRNGc.786C>G (p.Ile262Met)
c.630C>G (p.Ile210Met)
2g.232543063C>TCA431811049CHRNGc.786C>T (p.Ile262=)
c.630C>T (p.Ile210=)
 ClinVar gnomAD v4
2g.232543064C>ACA351012368CHRNGc.787C>A (p.His263Asn)
c.631C>A (p.His211Asn)
2g.232543064C=CA1335317563CHRNGc.787C= (p.His263=)
c.631C= (p.His211=)
2g.232543064C>GCA351012370CHRNGc.787C>G (p.His263Asp)
c.631C>G (p.His211Asp)
2g.232543064C>TCA351012372CHRNGc.787C>T (p.His263Tyr)
c.631C>T (p.His211Tyr)
 dbSNP gnomAD v2
2g.232543065A>CCA351012375CHRNGc.788A>C (p.His263Pro)
c.632A>C (p.His211Pro)
2g.232543065A>GCA351012378CHRNGc.788A>G (p.His263Arg)
c.632A>G (p.His211Arg)
2g.232543065A>TCA351012380CHRNGc.788A>T (p.His263Leu)
c.632A>T (p.His211Leu)
2g.232543066C>ACA351012383CHRNGc.789C>A (p.His263Gln)
c.633C>A (p.His211Gln)
2g.232543066C=CA1335317564CHRNGc.789C= (p.His263=)
c.633C= (p.His211=)
2g.232543066C>GCA351012385CHRNGc.789C>G (p.His263Gln)
c.633C>G (p.His211Gln)
2g.232543066C>TCA2168790CHRNGc.789C>T (p.His263=)
c.633C>T (p.His211=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232543072_232543075delCA2663625898CHRNGc.795_798del (p.Ala267ArgfsTer?)
c.639_642del (p.Ala215ArgfsTer?)
 gnomAD v4
2g.232543067T>ACA351012389CHRNGc.790T>A (p.Phe264Ile)
c.634T>A (p.Phe212Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232543067T>CCA351012392CHRNGc.790T>C (p.Phe264Leu)
c.634T>C (p.Phe212Leu)
 dbSNP gnomAD v4
2g.232543067T>GCA351012387CHRNGc.790T>G (p.Phe264Val)
c.634T>G (p.Phe212Val)
2g.232543067T=CA1335317565CHRNGc.790T= (p.Phe264=)
c.634T= (p.Phe212=)
2g.232543068T>ACA351012397CHRNGc.791T>A (p.Phe264Tyr)
c.635T>A (p.Phe212Tyr)
2g.232543068T>CCA351012395CHRNGc.791T>C (p.Phe264Ser)
c.635T>C (p.Phe212Ser)
2g.232543068T>GCA351012400CHRNGc.791T>G (p.Phe264Cys)
c.635T>G (p.Phe212Cys)
2g.232543069C>ACA351012402CHRNGc.792C>A (p.Phe264Leu)
c.636C>A (p.Phe212Leu)
2g.232543069C=CA1335317566CHRNGc.792C= (p.Phe264=)
c.636C= (p.Phe212=)
2g.232543069C>GCA351012404CHRNGc.792C>G (p.Phe264Leu)
c.636C>G (p.Phe212Leu)
2g.232543069C>TCA431811057CHRNGc.792C>T (p.Phe264=)
c.636C>T (p.Phe212=)
 dbSNP gnomAD v3 gnomAD v4
2g.232543070C>ACA351012407CHRNGc.793C>A (p.Leu265Ile)
c.637C>A (p.Leu213Ile)
2g.232543070C>GCA351012409CHRNGc.793C>G (p.Leu265Val)
c.637C>G (p.Leu213Val)
2g.232543070C>TCA351012411CHRNGc.793C>T (p.Leu265Phe)
c.637C>T (p.Leu213Phe)
2g.232543071T>ACA351012416CHRNGc.794T>A (p.Leu265His)
c.638T>A (p.Leu213His)
2g.232543071T>CCA351012418CHRNGc.794T>C (p.Leu265Pro)
c.638T>C (p.Leu213Pro)
2g.232543071T>GCA351012421CHRNGc.794T>G (p.Leu265Arg)
c.638T>G (p.Leu213Arg)
 ClinVar
2g.232543072T>ACA431811061CHRNGc.795T>A (p.Leu265=)
c.639T>A (p.Leu213=)
2g.232543072T>CCA431811062CHRNGc.795T>C (p.Leu265=)
c.639T>C (p.Leu213=)
2g.232543072T>GCA431811063CHRNGc.795T>G (p.Leu265=)
c.639T>G (p.Leu213=)
2g.232543073C>ACA351012422CHRNGc.796C>A (p.Pro266Thr)
c.640C>A (p.Pro214Thr)
 gnomAD v4
2g.232543073C=CA1335317567CHRNGc.796C= (p.Pro266=)
c.640C= (p.Pro214=)
2g.232543073C>GCA351012425CHRNGc.796C>G (p.Pro266Ala)
c.640C>G (p.Pro214Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.232543073C>TCA351012427CHRNGc.796C>T (p.Pro266Ser)
c.640C>T (p.Pro214Ser)
 gnomAD v4
2g.232543075_232543078delCA2577278463CHRNGc.798_801del (p.Ala267ArgfsTer?)
c.642_645del (p.Ala215ArgfsTer?)
2g.232543074C>ACA351012438CHRNGc.797C>A (p.Pro266His)
c.641C>A (p.Pro214His)
2g.232543074C>GCA351012435CHRNGc.797C>G (p.Pro266Arg)
c.641C>G (p.Pro214Arg)
2g.232543074C>TCA351012431CHRNGc.797C>T (p.Pro266Leu)
c.641C>T (p.Pro214Leu)
2g.232543075T>ACA431811067CHRNGc.798T>A (p.Pro266=)
c.642T>A (p.Pro214=)
2g.232543075T>CCA431811068CHRNGc.798T>C (p.Pro266=)
c.642T>C (p.Pro214=)
2g.232543075T>GCA2168791CHRNGc.798T>G (p.Pro266=)
c.642T>G (p.Pro214=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.232543075T=CA1335317568CHRNGc.798T= (p.Pro266=)
c.642T= (p.Pro214=)
2g.232543076G>ACA351012440CHRNGc.799G>A (p.Ala267Thr)
c.643G>A (p.Ala215Thr)
2g.232543076G>CCA351012442CHRNGc.799G>C (p.Ala267Pro)
c.643G>C (p.Ala215Pro)
2g.232543076G>TCA351012444CHRNGc.799G>T (p.Ala267Ser)
c.643G>T (p.Ala215Ser)
2g.232543077C>ACA351012447CHRNGc.800C>A (p.Ala267Asp)
c.644C>A (p.Ala215Asp)
2g.232543077C>GCA351012450CHRNGc.800C>G (p.Ala267Gly)
c.644C>G (p.Ala215Gly)
2g.232543077C>TCA351012453CHRNGc.800C>T (p.Ala267Val)
c.644C>T (p.Ala215Val)
 gnomAD v4
2g.232543078C>ACA431811070CHRNGc.801C>A (p.Ala267=)
c.645C>A (p.Ala215=)
2g.232543078C>GCA431811071CHRNGc.801C>G (p.Ala267=)
c.645C>G (p.Ala215=)
2g.232543078C>TCA431811073CHRNGc.801C>T (p.Ala267=)
c.645C>T (p.Ala215=)
2g.232543079A=CA1335317569CHRNGc.802A= (p.Lys268=)
c.646A= (p.Lys216=)
2g.232543079A>CCA351012455CHRNGc.802A>C (p.Lys268Gln)
c.646A>C (p.Lys216Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.232543079A>GCA351012458CHRNGc.802A>G (p.Lys268Glu)
c.646A>G (p.Lys216Glu)
2g.232543079A>TCA351012462CHRNGc.802A>T (p.Lys268Ter)
c.646A>T (p.Lys216Ter)
 gnomAD v4
2g.232543080A>CCA351012466CHRNGc.803A>C (p.Lys268Thr)
c.647A>C (p.Lys216Thr)
2g.232543080A>GCA351012469CHRNGc.803A>G (p.Lys268Arg)
c.647A>G (p.Lys216Arg)
2g.232543080A>TCA351012473CHRNGc.803A>T (p.Lys268Met)
c.647A>T (p.Lys216Met)
2g.232543081G>ACA431811075CHRNGc.804G>A (p.Lys268=)
c.648G>A (p.Lys216=)
 dbSNP gnomAD v4
2g.232543081G>CCA351012480CHRNGc.804G>C (p.Lys268Asn)
c.648G>C (p.Lys216Asn)
2g.232543081G=CA1335317570CHRNGc.804G= (p.Lys268=)
c.648G= (p.Lys216=)
2g.232543081G>TCA351012477CHRNGc.804G>T (p.Lys268Asn)
c.648G>T (p.Lys216Asn)
2g.232543082G>ACA351012484CHRNGc.805G>A (p.Ala269Thr)
c.649G>A (p.Ala217Thr)
2g.232543082G>CCA351012487CHRNGc.805G>C (p.Ala269Pro)
c.649G>C (p.Ala217Pro)
2g.232543082G>TCA351012489CHRNGc.805G>T (p.Ala269Ser)
c.649G>T (p.Ala217Ser)
2g.232543083G>ACA2168792CHRNGc.805+1G>A (n.805+1G>A)
c.649+1G>A (n.649+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543083G>CCA351012492CHRNGc.805+1G>C (n.805+1G>C)
c.649+1G>C (n.649+1G>C)
2g.232543083G=CA1335317571CHRNGc.805+1G= (n.805+1G=)
c.649+1G= (n.649+1G=)
2g.232543083G>TCA351012495CHRNGc.805+1G>T (n.805+1G>T)
c.649+1G>T (n.649+1G>T)
 COSMIC
2g.232543084T>ACA351012498CHRNGc.805+2T>A (n.805+2T>A)
c.649+2T>A (n.649+2T>A)
2g.232543084T>CCA351012501CHRNGc.805+2T>C (n.805+2T>C)
c.649+2T>C (n.649+2T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.232543084T>GCA351012503CHRNGc.805+2T>G (n.805+2T>G)
c.649+2T>G (n.649+2T>G)
2g.232543084T=CA1335317572CHRNGc.805+2T= (n.805+2T=)
c.649+2T= (n.649+2T=)
2g.232543085A=CA1335317573CHRNGc.805+3A= (n.805+3A=)
c.649+3A= (n.649+3A=)
2g.232543085A>GCA2168793CHRNGc.805+3A>G (n.805+3A>G)
c.649+3A>G (n.649+3A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232543086C>ACA540310124CHRNGc.805+4C>A (n.805+4C>A)
c.649+4C>A (n.649+4C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.232543086C=CA1335317574CHRNGc.805+4C= (n.805+4C=)
c.649+4C= (n.649+4C=)
2g.232543086C>TCA2168794CHRNGc.805+4C>T (n.805+4C>T)
c.649+4C>T (n.649+4C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543090G>ACA66968655CHRNGc.805+8G>A (n.805+8G>A)
c.649+8G>A (n.649+8G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.232543090G>CCA540310125CHRNGc.805+8G>C (n.805+8G>C)
c.649+8G>C (n.649+8G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.232543090G=CA1335317575CHRNGc.805+8G= (n.805+8G=)
c.649+8G= (n.649+8G=)
2g.232543091A=CA1335317576CHRNGc.805+9A= (n.805+9A=)
c.649+9A= (n.649+9A=)
2g.232543091A>GCA766144435CHRNGc.805+9A>G (n.805+9A>G)
c.649+9A>G (n.649+9A>G)
 dbSNP gnomAD v4
2g.232543092G>ACA431811081CHRNGc.805+10G>A (n.805+10G>A)
c.649+10G>A (n.649+10G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.232543092G>CCA2663625929CHRNGc.805+10G>C (n.805+10G>C)
c.649+10G>C (n.649+10G>C)
 ClinVar gnomAD v4
2g.232543092G=CA1335317577CHRNGc.805+10G= (n.805+10G=)
c.649+10G= (n.649+10G=)
2g.232543093C>ACA2754657218CHRNGc.805+11C>A (n.805+11C>A)
c.649+11C>A (n.649+11C>A)
2g.232543093C>GCA2663625931CHRNGc.805+11C>G (n.805+11C>G)
c.649+11C>G (n.649+11C>G)
 gnomAD v4
2g.232543094C>ACA2754657219CHRNGc.805+12C>A (n.805+12C>A)
c.649+12C>A (n.649+12C>A)
2g.232543095T>CCA2663625932CHRNGc.805+13T>C (n.805+13T>C)
c.649+13T>C (n.649+13T>C)
 ClinVar gnomAD v4
2g.232543096A=CA1335317578CHRNGc.805+14A= (n.805+14A=)
c.649+14A= (n.649+14A=)
2g.232543096A>GCA2168795CHRNGc.805+14A>G (n.805+14A>G)
c.649+14A>G (n.649+14A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.232543097T>ACA2663625939CHRNGc.805+15T>A (n.805+15T>A)
c.649+15T>A (n.649+15T>A)
 gnomAD v4
2g.232543097T>CCA1043460891CHRNGc.805+15T>C (n.805+15T>C)
c.649+15T>C (n.649+15T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.232543097T>GCA540310126CHRNGc.805+15T>G (n.805+15T>G)
c.649+15T>G (n.649+15T>G)
 dbSNP gnomAD v2
2g.232543097T=CA1335317579CHRNGc.805+15T= (n.805+15T=)
c.649+15T= (n.649+15T=)
2g.232543099G>ACA2168797CHRNGc.805+17G>A (n.805+17G>A)
c.649+17G>A (n.649+17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232543099G>CCA2168796CHRNGc.805+17G>C (n.805+17G>C)
c.649+17G>C (n.649+17G>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.232543099G=CA1335317580CHRNGc.805+17G= (n.805+17G=)
c.649+17G= (n.649+17G=)
2g.232543103G>ACA540310127CHRNGc.805+21G>A (n.805+21G>A)
c.649+21G>A (n.649+21G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.232543103G=CA1335317581CHRNGc.805+21G= (n.805+21G=)
c.649+21G= (n.649+21G=)

Number of alleles fetched