Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219060295T>ACA350637137IHHc.173A>T (p.Glu58Val)
2g.219060295T>CCA350637139IHHc.173A>G (p.Glu58Gly)
2g.219060295T>GCA350637140IHHc.173A>C (p.Glu58Ala)
2g.219060296C>ACA350637141IHHc.172G>T (p.Glu58Ter)
ClinVar dbSNP
2g.219060296C>GCA350637142IHHc.172G>C (p.Glu58Gln)
2g.219060296C>TCA350637143IHHc.172G>A (p.Glu58Lys)
ClinVar
2g.219060296_219060297delCA2701545560IHHc.171_172del (p.Lys59AspfsTer9)
dbSNP
2g.219060297G>ACA431420198IHHc.171C>T (p.Pro57=)
2g.219060297G>CCA431420196IHHc.171C>G (p.Pro57=)
gnomAD v4
2g.219060297G>TCA431420197IHHc.171C>A (p.Pro57=)
gnomAD v4
2g.219060298G>ACA350637144IHHc.170C>T (p.Pro57Leu)
2g.219060298G>CCA350637146IHHc.170C>G (p.Pro57Arg)
2g.219060298G=CA1329042630IHHc.170C= (p.Pro57=)
2g.219060298G>TCA350637148IHHc.170C>A (p.Pro57His)
dbSNP gnomAD v4
2g.219060299G>ACA350637149IHHc.169C>T (p.Pro57Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219060299G>CCA350637150IHHc.169C>G (p.Pro57Ala)
2g.219060299G=CA1329042631IHHc.169C= (p.Pro57=)
2g.219060299G>TCA350637151IHHc.169C>A (p.Pro57Thr)
gnomAD v4
2g.219060300C>ACA431420215IHHc.168G>T (p.Val56=)
2g.219060300C>GCA431420214IHHc.168G>C (p.Val56=)
gnomAD v4
2g.219060300C>TCA431420208IHHc.168G>A (p.Val56=)
2g.219060301A>CCA350637161IHHc.167T>G (p.Val56Gly)
2g.219060301A>GCA350637157IHHc.167T>C (p.Val56Ala)
COSMIC
2g.219060301A>TCA350637154IHHc.167T>A (p.Val56Glu)
2g.219060302C>ACA350637162IHHc.166G>T (p.Val56Leu)
2g.219060302C>GCA350637164IHHc.166G>C (p.Val56Leu)
2g.219060302C>TCA350637167IHHc.166G>A (p.Val56Met)
2g.219060303A=CA1329042632IHHc.165T= (p.Asn55=)
2g.219060303A>CCA350637170IHHc.165T>G (p.Asn55Lys)
2g.219060303A>GCA431420226IHHc.165T>C (p.Asn55=)
dbSNP COSMIC
2g.219060303A>TCA350637173IHHc.165T>A (p.Asn55Lys)
2g.219060304T>ACA350637176IHHc.164A>T (p.Asn55Ile)
2g.219060304T>CCA2116761IHHc.164A>G (p.Asn55Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060304T>GCA350637180IHHc.164A>C (p.Asn55Thr)
2g.219060304T=CA1329042633IHHc.164A= (p.Asn55=)
2g.219060305T>ACA350637182IHHc.163A>T (p.Asn55Tyr)
2g.219060305T>CCA350637185IHHc.163A>G (p.Asn55Asp)
dbSNP gnomAD v3 gnomAD v4
2g.219060305T>GCA350637187IHHc.163A>C (p.Asn55His)
2g.219060305T=CA1329042634IHHc.163A= (p.Asn55=)
2g.219060306G>ACA431420235IHHc.162C>T (p.Pro54=)
2g.219060306G>CCA431420236IHHc.162C>G (p.Pro54=)
2g.219060306G>TCA431420238IHHc.162C>A (p.Pro54=)
2g.219060307G>ACA350637189IHHc.161C>T (p.Pro54Leu)
2g.219060307G>CCA350637190IHHc.161C>G (p.Pro54Arg)
2g.219060307G>TCA350637192IHHc.161C>A (p.Pro54His)
2g.219060308G>ACA350637205IHHc.160C>T (p.Pro54Ser)
ClinVar dbSNP
2g.219060308G>CCA350637212IHHc.160C>G (p.Pro54Ala)
2g.219060308G>TCA350637196IHHc.160C>A (p.Pro54Thr)
2g.219060309G>ACA431420250IHHc.159C>T (p.Ser53=)
2g.219060309G>CCA350637217IHHc.159C>G (p.Ser53Arg)
2g.219060309G>TCA350637215IHHc.159C>A (p.Ser53Arg)
gnomAD v4
2g.219060310C>ACA350637223IHHc.158G>T (p.Ser53Ile)
2g.219060310C>GCA350637220IHHc.158G>C (p.Ser53Thr)
2g.219060310C>TCA350637225IHHc.158G>A (p.Ser53Asn)
2g.219060311T>ACA350637228IHHc.157A>T (p.Ser53Cys)
2g.219060311T>CCA350637229IHHc.157A>G (p.Ser53Gly)
dbSNP gnomAD v2 gnomAD v4
2g.219060311T>GCA350637232IHHc.157A>C (p.Ser53Arg)
2g.219060311T=CA1329042635IHHc.157A= (p.Ser53=)
2g.219060312G>ACA431420259IHHc.156C>T (p.Phe52=)
2g.219060312G>CCA350637236IHHc.156C>G (p.Phe52Leu)
2g.219060312G>TCA350637238IHHc.156C>A (p.Phe52Leu)
2g.219060313A>CCA350637242IHHc.155T>G (p.Phe52Cys)
2g.219060313A>GCA350637244IHHc.155T>C (p.Phe52Ser)
2g.219060313A>TCA350637245IHHc.155T>A (p.Phe52Tyr)
2g.219060314A=CA1329042636IHHc.154T= (p.Phe52=)
2g.219060314A>CCA350637247IHHc.154T>G (p.Phe52Val)
2g.219060314A>GCA65951302IHHc.154T>C (p.Phe52Leu)
dbSNP
2g.219060314A>TCA350637252IHHc.154T>A (p.Phe52Ile)
2g.219060315C>ACA350637255IHHc.153G>T (p.Gln51His)
2g.219060315C>GCA350637256IHHc.153G>C (p.Gln51His)
2g.219060315C>TCA431420277IHHc.153G>A (p.Gln51=)
2g.219060316T>ACA350637264IHHc.152A>T (p.Gln51Leu)
2g.219060316T>CCA350637262IHHc.152A>G (p.Gln51Arg)
2g.219060316T>GCA350637260IHHc.152A>C (p.Gln51Pro)
2g.219060317G>ACA350637266IHHc.151C>T (p.Gln51Ter)
2g.219060317G>CCA350637269IHHc.151C>G (p.Gln51Glu)
2g.219060317G=CA1329042637IHHc.151C= (p.Gln51=)
2g.219060317G>TCA350637272IHHc.151C>A (p.Gln51Lys)
ClinVar dbSNP gnomAD v4
2g.219060318C>ACA350637274IHHc.150G>T (p.Lys50Asn)
2g.219060318C>GCA350637277IHHc.150G>C (p.Lys50Asn)
2g.219060318C>TCA431420279IHHc.150G>A (p.Lys50=)
2g.219060319T>ACA350637280IHHc.149A>T (p.Lys50Met)
2g.219060319T>CCA350637281IHHc.149A>G (p.Lys50Arg)
2g.219060319T>GCA350637283IHHc.149A>C (p.Lys50Thr)
2g.219060320T>ACA350637285IHHc.148A>T (p.Lys50Ter)
2g.219060320T>CCA350637287IHHc.148A>G (p.Lys50Glu)
2g.219060320T>GCA350637290IHHc.148A>C (p.Lys50Gln)
2g.219060321G>ACA431420287IHHc.147C>T (p.Tyr49=)
2g.219060321G>CCA350637294IHHc.147C>G (p.Tyr49Ter)
2g.219060321G>TCA350637296IHHc.147C>A (p.Tyr49Ter)
2g.219060322T>ACA350637301IHHc.146A>T (p.Tyr49Phe)
2g.219060322T>CCA350637303IHHc.146A>G (p.Tyr49Cys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.219060322T>GCA350637299IHHc.146A>C (p.Tyr49Ser)
2g.219060322T=CA1329042638IHHc.146A= (p.Tyr49=)
2g.219060323A>CCA350637306IHHc.145T>G (p.Tyr49Asp)
2g.219060323A>GCA350637309IHHc.145T>C (p.Tyr49His)
2g.219060323A>TCA350637311IHHc.145T>A (p.Tyr49Asn)
2g.219060324G>ACA431420297IHHc.144C>T (p.Ala48=)
dbSNP gnomAD v3 gnomAD v4
2g.219060324G>CCA431420296IHHc.144C>G (p.Ala48=)
2g.219060324G=CA1329042639IHHc.144C= (p.Ala48=)
2g.219060324G>TCA431420295IHHc.144C>A (p.Ala48=)
gnomAD v4
2g.219060325G>ACA2116762IHHc.143C>T (p.Ala48Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060325G>CCA350637315IHHc.143C>G (p.Ala48Gly)
2g.219060325G=CA1329042640IHHc.143C= (p.Ala48=)
2g.219060325G>TCA350637316IHHc.143C>A (p.Ala48Asp)
2g.219060326C>ACA350637317IHHc.142G>T (p.Ala48Ser)
gnomAD v4
2g.219060326C=CA1329042641IHHc.142G= (p.Ala48=)
2g.219060326C>GCA350637318IHHc.142G>C (p.Ala48Pro)
2g.219060326C>TCA2116763IHHc.142G>A (p.Ala48Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060327G>ACA2116764IHHc.141C>T (p.Leu47=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060327G>CCA431420307IHHc.141C>G (p.Leu47=)
gnomAD v4
2g.219060327G=CA1329042642IHHc.141C= (p.Leu47=)
2g.219060327G>TCA431420310IHHc.141C>A (p.Leu47=)
2g.219060328A>CCA350637321IHHc.140T>G (p.Leu47Arg)
2g.219060328A>GCA350637322IHHc.140T>C (p.Leu47Pro)
gnomAD v4
2g.219060328A>TCA350637325IHHc.140T>A (p.Leu47His)
2g.219060329G>ACA2116765IHHc.139C>T (p.Leu47Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060329G>CCA350637329IHHc.139C>G (p.Leu47Val)
2g.219060329G=CA1329042643IHHc.139C= (p.Leu47=)
2g.219060329G>TCA350637327IHHc.139C>A (p.Leu47Ile)
2g.219060330C>ACA2116766IHHc.138G>T (p.Pro46=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060330C=CA1329042644IHHc.138G= (p.Pro46=)
2g.219060330C>GCA431420318IHHc.138G>C (p.Pro46=)
dbSNP gnomAD v2
2g.219060330C>TCA431420317IHHc.138G>A (p.Pro46=)
gnomAD v4
2g.219060331G>ACA119977IHHc.137C>T (p.Pro46Leu)
ClinVar dbSNP gnomAD v4
2g.219060331G>CCA350637334IHHc.137C>G (p.Pro46Arg)
2g.219060331G=CA1329042645IHHc.137C= (p.Pro46=)
2g.219060331G>TCA350637336IHHc.137C>A (p.Pro46Gln)
gnomAD v4
2g.219060332G>ACA350637339IHHc.136C>T (p.Pro46Ser)
gnomAD v4
2g.219060332G>CCA350637342IHHc.136C>G (p.Pro46Ala)
2g.219060332G>TCA350637345IHHc.136C>A (p.Pro46Thr)
gnomAD v4
2g.219060333C>ACA431420325IHHc.135G>T (p.Val45=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219060333C=CA1329042646IHHc.135G= (p.Val45=)
2g.219060333C>GCA431420327IHHc.135G>C (p.Val45=)
gnomAD v4
2g.219060333C>TCA431420329IHHc.135G>A (p.Val45=)
2g.219060334A=CA1329042647IHHc.134T= (p.Val45=)
2g.219060334A>CCA2116767IHHc.134T>G (p.Val45Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060334A>GCA350637348IHHc.134T>C (p.Val45Ala)
2g.219060334A>TCA350637351IHHc.134T>A (p.Val45Glu)
2g.219060335C>ACA350637355IHHc.133G>T (p.Val45Leu)
gnomAD v4
2g.219060335C=CA1329042648IHHc.133G= (p.Val45=)
2g.219060335C>GCA350637357IHHc.133G>C (p.Val45Leu)
gnomAD v4
2g.219060335C>TCA350637353IHHc.133G>A (p.Val45Met)
dbSNP gnomAD v2 COSMIC
2g.219060336G>ACA431420333IHHc.132C>T (p.Leu44=)
gnomAD v4
2g.219060336G>CCA65951324IHHc.132C>G (p.Leu44=)
dbSNP gnomAD v4
2g.219060336G=CA1329042649IHHc.132C= (p.Leu44=)
2g.219060336G>TCA431420334IHHc.132C>A (p.Leu44=)
gnomAD v4
2g.219060337A>CCA350637360IHHc.131T>G (p.Leu44Arg)
2g.219060337A>GCA350637361IHHc.131T>C (p.Leu44Pro)
2g.219060337A>TCA350637364IHHc.131T>A (p.Leu44His)
2g.219060338G>ACA350637366IHHc.130C>T (p.Leu44Phe)
2g.219060338G>CCA350637369IHHc.130C>G (p.Leu44Val)
2g.219060338G>TCA350637372IHHc.130C>A (p.Leu44Ile)
gnomAD v4
2g.219060339T>ACA350637376IHHc.129A>T (p.Lys43Asn)
2g.219060339T>CCA431420341IHHc.129A>G (p.Lys43=)
2g.219060339T>GCA350637374IHHc.129A>C (p.Lys43Asn)
2g.219060340T>ACA350637379IHHc.128A>T (p.Lys43Ile)
2g.219060340T>CCA2116768IHHc.128A>G (p.Lys43Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060340T>GCA350637382IHHc.128A>C (p.Lys43Thr)
2g.219060340T=CA1329042650IHHc.128A= (p.Lys43=)
2g.219060341T>ACA350637383IHHc.127A>T (p.Lys43Ter)
2g.219060341T>CCA350637386IHHc.127A>G (p.Lys43Glu)
dbSNP
2g.219060341T>GCA350637388IHHc.127A>C (p.Lys43Gln)
2g.219060341T=CA1329042651IHHc.127A= (p.Lys43=)
2g.219060342G>ACA431420345IHHc.126C>T (p.Arg42=)
2g.219060342G>CCA431420346IHHc.126C>G (p.Arg42=)
2g.219060342G=CA1329042652IHHc.126C= (p.Arg42=)
2g.219060342G>TCA2116769IHHc.126C>A (p.Arg42=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060343C>ACA350637392IHHc.125G>T (p.Arg42Leu)
gnomAD v4
2g.219060343C=CA1329042653IHHc.125G= (p.Arg42=)
2g.219060343C>GCA350637397IHHc.125G>C (p.Arg42Pro)
2g.219060343C>TCA350637395IHHc.125G>A (p.Arg42His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219060344G>ACA350637400IHHc.124C>T (p.Arg42Cys)
COSMIC
2g.219060344G>CCA350637403IHHc.124C>G (p.Arg42Gly)
dbSNP
2g.219060344G=CA1329042654IHHc.124C= (p.Arg42=)
2g.219060344G>TCA2116770IHHc.124C>A (p.Arg42Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060345T>ACA431420353IHHc.123A>T (p.Pro41=)
2g.219060345T>CCA431420350IHHc.123A>G (p.Pro41=)
COSMIC
2g.219060345T>GCA431420351IHHc.123A>C (p.Pro41=)
dbSNP
2g.219060346G>ACA65951371IHHc.122C>T (p.Pro41Leu)
dbSNP
2g.219060346G>CCA350637408IHHc.122C>G (p.Pro41Arg)
2g.219060346G=CA1329042655IHHc.122C= (p.Pro41=)
2g.219060346G>TCA350637411IHHc.122C>A (p.Pro41Gln)
gnomAD v4
2g.219060347G>ACA350637414IHHc.121C>T (p.Pro41Ser)
gnomAD v4
2g.219060347G>CCA350637416IHHc.121C>G (p.Pro41Ala)
2g.219060347G>TCA350637419IHHc.121C>A (p.Pro41Thr)
2g.219060348C>ACA431420357IHHc.120G>T (p.Pro40=)
gnomAD v4
2g.219060348C>GCA431420358IHHc.120G>C (p.Pro40=)
2g.219060348C>TCA431420359IHHc.120G>A (p.Pro40=)
gnomAD v4
2g.219060349G>ACA350637422IHHc.119C>T (p.Pro40Leu)
2g.219060349G>CCA350637424IHHc.119C>G (p.Pro40Arg)
2g.219060349G>TCA350637426IHHc.119C>A (p.Pro40Gln)
2g.219060350G>ACA350637428IHHc.118C>T (p.Pro40Ser)
gnomAD v4
2g.219060350G>CCA350637431IHHc.118C>G (p.Pro40Ala)
2g.219060350G=CA1329042656IHHc.118C= (p.Pro40=)
2g.219060350G>TCA2116771IHHc.118C>A (p.Pro40Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219060351T>ACA431420361IHHc.117A>T (p.Arg39=)
2g.219060351T>CCA431420362IHHc.117A>G (p.Arg39=)
dbSNP
2g.219060351T>GCA431420363IHHc.117A>C (p.Arg39=)
dbSNP
2g.219060351T=CA1329042657IHHc.117A= (p.Arg39=)
2g.219060352C>ACA350637434IHHc.116G>T (p.Arg39Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219060352C=CA1329042658IHHc.116G= (p.Arg39=)
2g.219060352C>GCA350637436IHHc.116G>C (p.Arg39Pro)
COSMIC
2g.219060352C>TCA350637439IHHc.116G>A (p.Arg39Gln)
gnomAD v4
2g.219060353G>ACA350637441IHHc.115C>T (p.Arg39Ter)
gnomAD v4
2g.219060353G>CCA350637442IHHc.115C>G (p.Arg39Gly)
dbSNP
2g.219060353G=CA1329042659IHHc.115C= (p.Arg39=)
2g.219060353G>TCA431420367IHHc.115C>A (p.Arg39=)
gnomAD v4
2g.219060354C>ACA431420368IHHc.114G>T (p.Arg38=)
2g.219060354C>GCA431420369IHHc.114G>C (p.Arg38=)
2g.219060354C>TCA431420370IHHc.114G>A (p.Arg38=)
gnomAD v4
2g.219060355C>ACA350637445IHHc.113G>T (p.Arg38Leu)
2g.219060355C>GCA350637448IHHc.113G>C (p.Arg38Pro)
gnomAD v4 COSMIC
2g.219060355C>TCA350637450IHHc.113G>A (p.Arg38Gln)
gnomAD v4
2g.219060356G>ACA350637453IHHc.112C>T (p.Arg38Trp)
gnomAD v4
2g.219060356G>CCA350637455IHHc.112C>G (p.Arg38Gly)
2g.219060356G>TCA431419484IHHc.112C>A (p.Arg38=)
gnomAD v4
2g.219060357G>ACA431419487IHHc.111C>T (p.Arg37=)
gnomAD v4
2g.219060357G>CCA431419489IHHc.111C>G (p.Arg37=)
2g.219060357G>TCA431419491IHHc.111C>A (p.Arg37=)
gnomAD v4
2g.219060358C>ACA350637459IHHc.110G>T (p.Arg37Leu)
gnomAD v4
2g.219060358C>GCA350637461IHHc.110G>C (p.Arg37Pro)
2g.219060358C>TCA350637465IHHc.110G>A (p.Arg37His)
gnomAD v4
2g.219060359G>ACA350637472IHHc.109C>T (p.Arg37Cys)
2g.219060359G>CCA350637467IHHc.109C>G (p.Arg37Gly)
gnomAD v4
2g.219060359G=CA1329042660IHHc.109C= (p.Arg37=)
2g.219060359G>TCA2116772IHHc.109C>A (p.Arg37Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.219060360G>ACA431419499IHHc.108C>T (p.Ser36=)
2g.219060360G>CCA350637475IHHc.108C>G (p.Ser36Arg)
2g.219060360G>TCA350637477IHHc.108C>A (p.Ser36Arg)
gnomAD v4
2g.219060361C>ACA350637480IHHc.107G>T (p.Ser36Ile)
2g.219060361C=CA1329042661IHHc.107G= (p.Ser36=)
2g.219060361C>GCA350637482IHHc.107G>C (p.Ser36Thr)
dbSNP
2g.219060361C>TCA350637485IHHc.107G>A (p.Ser36Asn)
dbSNP gnomAD v4
2g.219060362T>ACA350637486IHHc.106A>T (p.Ser36Cys)
2g.219060362T>CCA350637488IHHc.106A>G (p.Ser36Gly)
dbSNP
2g.219060362T>GCA350637491IHHc.106A>C (p.Ser36Arg)
2g.219060362T=CA1329042662IHHc.106A= (p.Ser36=)
2g.219060363G>ACA431419512IHHc.105C>T (p.Gly35=)
ClinVar dbSNP gnomAD v4 COSMIC
2g.219060363G>CCA431419517IHHc.105C>G (p.Gly35=)
2g.219060363G=CA1329042663IHHc.105C= (p.Gly35=)
2g.219060363G>TCA431419518IHHc.105C>A (p.Gly35=)
gnomAD v4
2g.219060364C>ACA350637494IHHc.104G>T (p.Gly35Val)
2g.219060364C=CA1329042664IHHc.104G= (p.Gly35=)
2g.219060364C>GCA350637497IHHc.104G>C (p.Gly35Ala)
2g.219060364C>TCA2116773IHHc.104G>A (p.Gly35Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060366delCA2663195114IHHc.104del (p.Gly35AlafsTer?)
gnomAD v4
2g.219060365C>ACA350637506IHHc.103G>T (p.Gly35Cys)
gnomAD v4
2g.219060365C=CA1329042665IHHc.103G= (p.Gly35=)
2g.219060365C>GCA350637503IHHc.103G>C (p.Gly35Arg)
2g.219060365C>TCA350637501IHHc.103G>A (p.Gly35Ser)
2g.219060365_219060366insACGCAAACTCGTGCA916778810IHHc.102_103insCACGAGTTTGCGT (p.Gly35HisfsTer?)
dbSNP
2g.219060366C>ACA431419528IHHc.102G>T (p.Val34=)
2g.219060366C>GCA431419527IHHc.102G>C (p.Val34=)
2g.219060366C>TCA431419523IHHc.102G>A (p.Val34=)
2g.219060367A>CCA350637509IHHc.101T>G (p.Val34Gly)
2g.219060367A>GCA350637513IHHc.101T>C (p.Val34Ala)
2g.219060367A>TCA350637512IHHc.101T>A (p.Val34Glu)
2g.219060368C>ACA350637515IHHc.100G>T (p.Val34Leu)
2g.219060368C>GCA350637516IHHc.100G>C (p.Val34Leu)
gnomAD v4
2g.219060368C>TCA350637518IHHc.100G>A (p.Val34Met)
gnomAD v4
2g.219060369C>ACA431419535IHHc.99G>T (p.Val33=)
gnomAD v4
2g.219060369C>GCA431419538IHHc.99G>C (p.Val33=)
2g.219060369C>TCA431419539IHHc.99G>A (p.Val33=)
2g.219060370A=CA1329042666IHHc.98T= (p.Val33=)
2g.219060370A>CCA65951376IHHc.98T>G (p.Val33Gly)
dbSNP
2g.219060370A>GCA350637520IHHc.98T>C (p.Val33Ala)
dbSNP gnomAD v2 gnomAD v4
2g.219060370A>TCA350637522IHHc.98T>A (p.Val33Glu)
2g.219060371C>ACA350637527IHHc.97G>T (p.Val33Leu)
2g.219060371C>GCA350637524IHHc.97G>C (p.Val33Leu)
2g.219060371C>TCA350637525IHHc.97G>A (p.Val33Met)
gnomAD v4
2g.219060372C>ACA431419548IHHc.96G>T (p.Arg32=)
2g.219060372C>GCA431419555IHHc.96G>C (p.Arg32=)
2g.219060372C>TCA431419552IHHc.96G>A (p.Arg32=)
gnomAD v4
2g.219060373C>ACA350637528IHHc.95G>T (p.Arg32Leu)
gnomAD v4
2g.219060373C=CA1329042667IHHc.95G= (p.Arg32=)
2g.219060373C>GCA2116774IHHc.95G>C (p.Arg32Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060373C>TCA350637530IHHc.95G>A (p.Arg32Gln)
gnomAD v4
2g.219060374G>ACA350637532IHHc.94C>T (p.Arg32Trp)
dbSNP gnomAD v2 gnomAD v4
2g.219060374G>CCA350637535IHHc.94C>G (p.Arg32Gly)
dbSNP
2g.219060374G=CA1329042668IHHc.94C= (p.Arg32=)
2g.219060374G>TCA431419561IHHc.94C>A (p.Arg32=)
gnomAD v4
2g.219060375A>CCA431419562IHHc.93T>G (p.Gly31=)
dbSNP
2g.219060375A>GCA431419563IHHc.93T>C (p.Gly31=)
2g.219060375A>TCA431419565IHHc.93T>A (p.Gly31=)
2g.219060375_219060376delinsACCA1329042669IHHc.92_93delinsGT (p.Gly31=)
2g.219060376C>ACA350637540IHHc.92G>T (p.Gly31Val)
gnomAD v4
2g.219060376C>GCA350637538IHHc.92G>C (p.Gly31Ala)
2g.219060376C>TCA350637539IHHc.92G>A (p.Gly31Asp)
gnomAD v4
2g.219060378delCA539841236IHHc.92del (p.Gly31ValfsTer?)
dbSNP gnomAD v2 gnomAD v4
2g.219060377C>ACA350637542IHHc.91G>T (p.Gly31Cys)
2g.219060377C=CA1329042670IHHc.91G= (p.Gly31=)
2g.219060377C>GCA65951383IHHc.91G>C (p.Gly31Arg)
dbSNP
2g.219060377C>TCA350637545IHHc.91G>A (p.Gly31Ser)
2g.219060378C>ACA65951389IHHc.90G>T (p.Pro30=)
dbSNP gnomAD v4
2g.219060378C=CA1329042671IHHc.90G= (p.Pro30=)
2g.219060378C>GCA431419578IHHc.90G>C (p.Pro30=)
dbSNP gnomAD v4
2g.219060378C>TCA431419579IHHc.90G>A (p.Pro30=)
dbSNP gnomAD v4
2g.219060379G>ACA350637547IHHc.89C>T (p.Pro30Leu)
ClinVar dbSNP gnomAD v4
2g.219060379G>CCA350637549IHHc.89C>G (p.Pro30Arg)
2g.219060379G=CA1329042672IHHc.89C= (p.Pro30=)
2g.219060379G>TCA350637551IHHc.89C>A (p.Pro30Gln)
gnomAD v4
2g.219060380G>ACA350637553IHHc.88C>T (p.Pro30Ser)
dbSNP gnomAD v4 COSMIC
2g.219060380G>CCA350637555IHHc.88C>G (p.Pro30Ala)
2g.219060380G=CA1329042673IHHc.88C= (p.Pro30=)
2g.219060380G>TCA350637556IHHc.88C>A (p.Pro30Thr)
ClinVar dbSNP gnomAD v4
2g.219060381C>ACA431419592IHHc.87G>T (p.Gly29=)
gnomAD v4
2g.219060381C>GCA431419593IHHc.87G>C (p.Gly29=)
2g.219060381C>TCA431419596IHHc.87G>A (p.Gly29=)
gnomAD v4
2g.219060383delCA2663195131IHHc.87del (p.Pro30ArgfsTer?)
gnomAD v4
2g.219060382C>ACA350637557IHHc.86G>T (p.Gly29Val)
2g.219060382C>GCA350637559IHHc.86G>C (p.Gly29Ala)
2g.219060382C>TCA350637561IHHc.86G>A (p.Gly29Glu)
2g.219060383C>ACA350637563IHHc.85G>T (p.Gly29Trp)
2g.219060383C=CA1329042674IHHc.85G= (p.Gly29=)
2g.219060383C>GCA350637565IHHc.85G>C (p.Gly29Arg)
2g.219060383C>TCA2116775IHHc.85G>A (p.Gly29Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060384G>ACA431419605IHHc.84C>T (p.Cys28=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.219060384G>CCA350637566IHHc.84C>G (p.Cys28Trp)
2g.219060384G=CA1329042675IHHc.84C= (p.Cys28=)
2g.219060384G>TCA350637568IHHc.84C>A (p.Cys28Ter)
gnomAD v4
2g.219060385C>ACA350637570IHHc.83G>T (p.Cys28Phe)
2g.219060385C=CA1329042676IHHc.83G= (p.Cys28=)
2g.219060385C>GCA350637571IHHc.83G>C (p.Cys28Ser)
2g.219060385C>TCA2116776IHHc.83G>A (p.Cys28Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060386A=CA1329042677IHHc.82T= (p.Cys28=)
2g.219060386A>CCA350637573IHHc.82T>G (p.Cys28Gly)
dbSNP
2g.219060386A>GCA350637575IHHc.82T>C (p.Cys28Arg)
2g.219060386A>TCA2116777IHHc.82T>A (p.Cys28Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219060387G>ACA431419607IHHc.81C>T (p.Gly27=)
gnomAD v4
2g.219060387G>CCA431419608IHHc.81C>G (p.Gly27=)
2g.219060387G>TCA431419609IHHc.81C>A (p.Gly27=)
gnomAD v4
2g.219060388C>ACA350637578IHHc.80G>T (p.Gly27Val)
2g.219060388C=CA1329042678IHHc.80G= (p.Gly27=)
2g.219060388C>GCA350637579IHHc.80G>C (p.Gly27Ala)
2g.219060388C>TCA350637581IHHc.80G>A (p.Gly27Asp)
dbSNP
2g.219060391delCA2663195138IHHc.80del (p.Gly27AlafsTer?)
gnomAD v4
2g.219060389C>ACA350637586IHHc.79G>T (p.Gly27Cys)
2g.219060389C>GCA350637584IHHc.79G>C (p.Gly27Arg)
2g.219060389C>TCA350637583IHHc.79G>A (p.Gly27Ser)
2g.219060389_219060415delinsCCCATGCCGCCGGCACCACCAGCAGCACA1329042679IHHc.53_79delinsTGCTGCTGGTGGTGCCGGCGGCATGGG (p.Leu18=)
2g.219060390C>ACA350637588IHHc.78G>T (p.Trp26Cys)
2g.219060390C>GCA350637589IHHc.78G>C (p.Trp26Cys)
2g.219060390C>TCA350637591IHHc.78G>A (p.Trp26Ter)
gnomAD v4
2g.219060390_219060415delinsGGCCCCA915941730IHHc.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla)
ClinVar dbSNP
2g.219060391C>ACA350637593IHHc.77G>T (p.Trp26Leu)
2g.219060391C>GCA350637594IHHc.77G>C (p.Trp26Ser)
2g.219060391C>TCA350637596IHHc.77G>A (p.Trp26Ter)
ClinVar dbSNP
2g.219060392A>CCA350637597IHHc.76T>G (p.Trp26Gly)
dbSNP
2g.219060392A>GCA350637599IHHc.76T>C (p.Trp26Arg)
gnomAD v4
2g.219060392A>TCA350637601IHHc.76T>A (p.Trp26Arg)
2g.219060393T>ACA431419626IHHc.75A>T (p.Ala25=)
2g.219060393T>CCA431419627IHHc.75A>G (p.Ala25=)
gnomAD v4
2g.219060393T>GCA431419629IHHc.75A>C (p.Ala25=)
2g.219060394G>ACA350637603IHHc.74C>T (p.Ala25Val)
gnomAD v4
2g.219060394G>CCA350637605IHHc.74C>G (p.Ala25Gly)
dbSNP
2g.219060394G>TCA350637607IHHc.74C>A (p.Ala25Glu)
gnomAD v4
2g.219060395C>ACA65951406IHHc.73G>T (p.Ala25Ser)
dbSNP gnomAD v2 gnomAD v4
2g.219060395C=CA1329042680IHHc.73G= (p.Ala25=)
2g.219060395C>GCA350637610IHHc.73G>C (p.Ala25Pro)
2g.219060395C>TCA350637609IHHc.73G>A (p.Ala25Thr)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched