Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.121446997T>ACA452134093GJA1c.150T>A (p.Ser50=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.121446997T>CCA452134091GJA1c.150T>C (p.Ser50=)
gnomAD v4
6g.121446997T>GCA452134092GJA1c.150T>G (p.Ser50=)
6g.121446997T=CA1659501504GJA1c.150T= (p.Ser50=)
6g.121446998G>ACA365558022GJA1c.151G>A (p.Ala51Thr)
6g.121446998G>CCA365558023GJA1c.151G>C (p.Ala51Pro)
6g.121446998G>TCA365558024GJA1c.151G>T (p.Ala51Ser)
6g.121446999C>ACA365558025GJA1c.152C>A (p.Ala51Asp)
6g.121446999C>GCA365558026GJA1c.152C>G (p.Ala51Gly)
ClinVar
6g.121446999C>TCA365558027GJA1c.152C>T (p.Ala51Val)
6g.121447000C>ACA452134095GJA1c.153C>A (p.Ala51=)
6g.121447000C=CA1659501505GJA1c.153C= (p.Ala51=)
6g.121447000C>GCA452134096GJA1c.153C>G (p.Ala51=)
dbSNP
6g.121447000C>TCA452134098GJA1c.153C>T (p.Ala51=)
dbSNP
6g.121447001T>ACA365558028GJA1c.154T>A (p.Phe52Ile)
6g.121447001T>CCA365558030GJA1c.154T>C (p.Phe52Leu)
6g.121447001T>GCA365558029GJA1c.154T>G (p.Phe52Val)
6g.121447001_121447003dupCA913184965GJA1c.154_156dup (p.Phe52_Arg53insPhe)
ClinVar dbSNP
6g.121447002T>ACA365558031GJA1c.155T>A (p.Phe52Tyr)
6g.121447002T>CCA365558032GJA1c.155T>C (p.Phe52Ser)
6g.121447002T>GCA365558033GJA1c.155T>G (p.Phe52Cys)
6g.121447003T>ACA365558034GJA1c.156T>A (p.Phe52Leu)
6g.121447003T>CCA452134101GJA1c.156T>C (p.Phe52=)
6g.121447003T>GCA365558035GJA1c.156T>G (p.Phe52Leu)
6g.121447004C>ACA365558036GJA1c.157C>A (p.Arg53Ser)
6g.121447004C=CA1659501506GJA1c.157C= (p.Arg53=)
6g.121447004C>GCA365558037GJA1c.157C>G (p.Arg53Gly)
dbSNP gnomAD v4 COSMIC
6g.121447004C>TCA365558038GJA1c.157C>T (p.Arg53Cys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.121447005G>ACA365558039GJA1c.158G>A (p.Arg53His)
ClinVar gnomAD v4
6g.121447005G>CCA365558040GJA1c.158G>C (p.Arg53Pro)
6g.121447005G>TCA365558041GJA1c.158G>T (p.Arg53Leu)
COSMIC
6g.121447006T>ACA452134110GJA1c.159T>A (p.Arg53=)
6g.121447006T>CCA452134111GJA1c.159T>C (p.Arg53=)
6g.121447006T>GCA452134112GJA1c.159T>G (p.Arg53=)
6g.121447007T>ACA365558042GJA1c.160T>A (p.Cys54Ser)
6g.121447007T>CCA365558044GJA1c.160T>C (p.Cys54Arg)
6g.121447007T>GCA365558043GJA1c.160T>G (p.Cys54Gly)
6g.121447008G>ACA365558045GJA1c.161G>A (p.Cys54Tyr)
6g.121447008G>CCA365558046GJA1c.161G>C (p.Cys54Ser)
gnomAD v4
6g.121447008G>TCA365558047GJA1c.161G>T (p.Cys54Phe)
6g.121447009T>ACA365558049GJA1c.162T>A (p.Cys54Ter)
6g.121447009T>CCA452134120GJA1c.162T>C (p.Cys54=)
6g.121447009T>GCA365558051GJA1c.162T>G (p.Cys54Trp)
6g.121447009dupCA2499218051GJA1c.162dup (p.Asn55Ter)
ClinVar dbSNP
6g.121447010A>CCA365558053GJA1c.163A>C (p.Asn55His)
6g.121447010A>GCA365558054GJA1c.163A>G (p.Asn55Asp)
6g.121447010A>TCA365558055GJA1c.163A>T (p.Asn55Tyr)
6g.121447011A=CA1659501507GJA1c.164A= (p.Asn55=)
6g.121447011A>CCA365558056GJA1c.164A>C (p.Asn55Thr)
6g.121447011A>GCA365558057GJA1c.164A>G (p.Asn55Ser)
ClinVar dbSNP
6g.121447011A>TCA365558058GJA1c.164A>T (p.Asn55Ile)
6g.121447012C>ACA365558060GJA1c.165C>A (p.Asn55Lys)
6g.121447012C=CA1659501508GJA1c.165C= (p.Asn55=)
6g.121447012C>GCA365558062GJA1c.165C>G (p.Asn55Lys)
6g.121447012C>TCA452134125GJA1c.165C>T (p.Asn55=)
dbSNP gnomAD v2 gnomAD v4
6g.121447013A>CCA365558064GJA1c.166A>C (p.Thr56Pro)
6g.121447013A>GCA365558067GJA1c.166A>G (p.Thr56Ala)
6g.121447013A>TCA365558065GJA1c.166A>T (p.Thr56Ser)
6g.121447014C>ACA365558070GJA1c.167C>A (p.Thr56Asn)
6g.121447014C>GCA365558074GJA1c.167C>G (p.Thr56Ser)
6g.121447014C>TCA365558076GJA1c.167C>T (p.Thr56Ile)
6g.121447015T>ACA452134130GJA1c.168T>A (p.Thr56=)
6g.121447015T>CCA452134131GJA1c.168T>C (p.Thr56=)
dbSNP gnomAD v3 gnomAD v4
6g.121447015T>GCA3981662GJA1c.168T>G (p.Thr56=)
dbSNP ExAC gnomAD v2
6g.121447015T=CA1659501509GJA1c.168T= (p.Thr56=)
6g.121447015dupCA2695206909GJA1c.168dup (p.Gln57SerfsTer6)
6g.121447016C>ACA365558080GJA1c.169C>A (p.Gln57Lys)
6g.121447016C=CA1659501510GJA1c.169C= (p.Gln57=)
6g.121447016C>GCA365558082GJA1c.169C>G (p.Gln57Glu)
6g.121447016C>TCA365558084GJA1c.169C>T (p.Gln57Ter)
dbSNP gnomAD v2 gnomAD v4
6g.121447017A>CCA365558086GJA1c.170A>C (p.Gln57Pro)
6g.121447017A>GCA365558088GJA1c.170A>G (p.Gln57Arg)
6g.121447017A>TCA365558089GJA1c.170A>T (p.Gln57Leu)
6g.121447018G>ACA3981663GJA1c.171G>A (p.Gln57=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.121447018G>CCA365558094GJA1c.171G>C (p.Gln57His)
6g.121447018G=CA1659501511GJA1c.171G= (p.Gln57=)
6g.121447018G>TCA365558092GJA1c.171G>T (p.Gln57His)
6g.121447019C>ACA365558100GJA1c.172C>A (p.Gln58Lys)
6g.121447019C>GCA365558096GJA1c.172C>G (p.Gln58Glu)
6g.121447019C>TCA365558098GJA1c.172C>T (p.Gln58Ter)
6g.121447020A>CCA365558101GJA1c.173A>C (p.Gln58Pro)
6g.121447020A>GCA365558102GJA1c.173A>G (p.Gln58Arg)
6g.121447020A>TCA365558103GJA1c.173A>T (p.Gln58Leu)
6g.121447021A=CA1659501512GJA1c.174A= (p.Gln58=)
6g.121447021A>CCA365558104GJA1c.174A>C (p.Gln58His)
6g.121447021A>GCA452134144GJA1c.174A>G (p.Gln58=)
dbSNP gnomAD v2 gnomAD v4
6g.121447021A>TCA365558105GJA1c.174A>T (p.Gln58His)
6g.121447022C>ACA365558107GJA1c.175C>A (p.Pro59Thr)
6g.121447022C>GCA365558110GJA1c.175C>G (p.Pro59Ala)
6g.121447022C>TCA365558112GJA1c.175C>T (p.Pro59Ser)
6g.121447023C>ACA365558114GJA1c.176C>A (p.Pro59His)
6g.121447023C>GCA365558116GJA1c.176C>G (p.Pro59Arg)
6g.121447023C>TCA365558117GJA1c.176C>T (p.Pro59Leu)
6g.121447024T>ACA452134154GJA1c.177T>A (p.Pro59=)
6g.121447024T>CCA452134155GJA1c.177T>C (p.Pro59=)
6g.121447024T>GCA452134152GJA1c.177T>G (p.Pro59=)
6g.121447025G>ACA365558120GJA1c.178G>A (p.Gly60Ser)
6g.121447025G>CCA365558122GJA1c.178G>C (p.Gly60Arg)
6g.121447025G>TCA365558121GJA1c.178G>T (p.Gly60Cys)
COSMIC
6g.121447026G>ACA365558125GJA1c.179G>A (p.Gly60Asp)
6g.121447026G>CCA365558127GJA1c.179G>C (p.Gly60Ala)
ClinVar
6g.121447026G>TCA365558128GJA1c.179G>T (p.Gly60Val)
6g.121447027T>ACA452134164GJA1c.180T>A (p.Gly60=)
dbSNP gnomAD v3 gnomAD v4
6g.121447027T>CCA452134163GJA1c.180T>C (p.Gly60=)
ClinVar gnomAD v4
6g.121447027T>GCA452134162GJA1c.180T>G (p.Gly60=)
6g.121447027T=CA1659501513GJA1c.180T= (p.Gly60=)
6g.121447028T>ACA365558130GJA1c.181T>A (p.Cys61Ser)
6g.121447028T>CCA365558132GJA1c.181T>C (p.Cys61Arg)
6g.121447028T>GCA365558133GJA1c.181T>G (p.Cys61Gly)
6g.121447029G>ACA365558135GJA1c.182G>A (p.Cys61Tyr)
dbSNP
6g.121447029G>CCA365558137GJA1c.182G>C (p.Cys61Ser)
6g.121447029G=CA1659501514GJA1c.182G= (p.Cys61=)
6g.121447029G>TCA365558139GJA1c.182G>T (p.Cys61Phe)
6g.121447030T>ACA365558141GJA1c.183T>A (p.Cys61Ter)
6g.121447030T>CCA452134173GJA1c.183T>C (p.Cys61=)
6g.121447030T>GCA365558142GJA1c.183T>G (p.Cys61Trp)
6g.121447031G>ACA365558146GJA1c.184G>A (p.Glu62Lys)
ClinVar
6g.121447031G>CCA365558148GJA1c.184G>C (p.Glu62Gln)
6g.121447031G>TCA365558144GJA1c.184G>T (p.Glu62Ter)
6g.121447032A>CCA365558151GJA1c.185A>C (p.Glu62Ala)
6g.121447032A>GCA365558152GJA1c.185A>G (p.Glu62Gly)
6g.121447032A>TCA365558155GJA1c.185A>T (p.Glu62Val)
6g.121447033A>CCA365558157GJA1c.186A>C (p.Glu62Asp)
6g.121447033A>GCA452134185GJA1c.186A>G (p.Glu62=)
6g.121447033A>TCA365558159GJA1c.186A>T (p.Glu62Asp)
6g.121447034A=CA1659501515GJA1c.187A= (p.Asn63=)
6g.121447034A>CCA365558163GJA1c.187A>C (p.Asn63His)
ClinVar dbSNP
6g.121447034A>GCA365558162GJA1c.187A>G (p.Asn63Asp)
ClinVar
6g.121447034A>TCA365558161GJA1c.187A>T (p.Asn63Tyr)
6g.121447035A>CCA365558165GJA1c.188A>C (p.Asn63Thr)
6g.121447035A>GCA365558167GJA1c.188A>G (p.Asn63Ser)
6g.121447035A>TCA365558169GJA1c.188A>T (p.Asn63Ile)
6g.121447036T>ACA365558171GJA1c.189T>A (p.Asn63Lys)
6g.121447036T>CCA3981664GJA1c.189T>C (p.Asn63=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.121447036T>GCA365558173GJA1c.189T>G (p.Asn63Lys)
ClinVar dbSNP
6g.121447036T=CA1659501516GJA1c.189T= (p.Asn63=)
6g.121447037G>ACA365558175GJA1c.190G>A (p.Val64Ile)
6g.121447037G>CCA365558178GJA1c.190G>C (p.Val64Leu)
6g.121447037G>TCA365558177GJA1c.190G>T (p.Val64Phe)
6g.121447038T>ACA365558180GJA1c.191T>A (p.Val64Asp)
6g.121447038T>CCA365558181GJA1c.191T>C (p.Val64Ala)
6g.121447038T>GCA365558183GJA1c.191T>G (p.Val64Gly)
6g.121447039C>ACA452134204GJA1c.192C>A (p.Val64=)
6g.121447039C=CA1659501517GJA1c.192C= (p.Val64=)
6g.121447039C>GCA452134205GJA1c.192C>G (p.Val64=)
gnomAD v4
6g.121447039C>TCA452134206GJA1c.192C>T (p.Val64=)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.121447040T>ACA365558185GJA1c.193T>A (p.Cys65Ser)
6g.121447040T>CCA365558186GJA1c.193T>C (p.Cys65Arg)
6g.121447040T>GCA365558188GJA1c.193T>G (p.Cys65Gly)
6g.121447041G>ACA365558190GJA1c.194G>A (p.Cys65Tyr)
6g.121447041G>CCA365558191GJA1c.194G>C (p.Cys65Ser)
6g.121447041G>TCA365558193GJA1c.194G>T (p.Cys65Phe)
6g.121447042C>ACA365558195GJA1c.195C>A (p.Cys65Ter)
6g.121447042C=CA1659501518GJA1c.195C= (p.Cys65=)
6g.121447042C>GCA365558197GJA1c.195C>G (p.Cys65Trp)
6g.121447042C>TCA3981665GJA1c.195C>T (p.Cys65=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.121447043T>ACA365558204GJA1c.196T>A (p.Tyr66Asn)
6g.121447043T>CCA365558202GJA1c.196T>C (p.Tyr66His)
ClinVar dbSNP
6g.121447043T>GCA365558200GJA1c.196T>G (p.Tyr66Asp)
6g.121447044A=CA1659501519GJA1c.197A= (p.Tyr66=)
6g.121447044A>CCA365558206GJA1c.197A>C (p.Tyr66Ser)
6g.121447044A>GCA146810022GJA1c.197A>G (p.Tyr66Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.121447044A>TCA365558207GJA1c.197A>T (p.Tyr66Phe)
6g.121447045T>ACA365558210GJA1c.198T>A (p.Tyr66Ter)
6g.121447045T>CCA452134221GJA1c.198T>C (p.Tyr66=)
gnomAD v4
6g.121447045T>GCA365558212GJA1c.198T>G (p.Tyr66Ter)
6g.121447046G>ACA365558214GJA1c.199G>A (p.Asp67Asn)
6g.121447046G>CCA365558216GJA1c.199G>C (p.Asp67His)
6g.121447046G>TCA365558217GJA1c.199G>T (p.Asp67Tyr)
6g.121447047A>CCA365558219GJA1c.200A>C (p.Asp67Ala)
6g.121447047A>GCA365558221GJA1c.200A>G (p.Asp67Gly)
6g.121447047A>TCA365558222GJA1c.200A>T (p.Asp67Val)
6g.121447048C>ACA365558223GJA1c.201C>A (p.Asp67Glu)
6g.121447048C=CA1659501520GJA1c.201C= (p.Asp67=)
6g.121447048C>GCA365558224GJA1c.201C>G (p.Asp67Glu)
6g.121447048C>TCA452134223GJA1c.201C>T (p.Asp67=)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.121447049A=CA1659501521GJA1c.202A= (p.Lys68=)
6g.121447049A>CCA365558225GJA1c.202A>C (p.Lys68Gln)
6g.121447049A>GCA365558226GJA1c.202A>G (p.Lys68Glu)
dbSNP gnomAD v3 gnomAD v4
6g.121447049A>TCA365558227GJA1c.202A>T (p.Lys68Ter)
6g.121447050A=CA1659501522GJA1c.203A= (p.Lys68=)
6g.121447050A>CCA365558229GJA1c.203A>C (p.Lys68Thr)
6g.121447050A>GCA146810023GJA1c.203A>G (p.Lys68Arg)
dbSNP gnomAD v2 gnomAD v4
6g.121447050A>TCA365558228GJA1c.203A>T (p.Lys68Met)
6g.121447051G>ACA452134228GJA1c.204G>A (p.Lys68=)
6g.121447051G>CCA365558230GJA1c.204G>C (p.Lys68Asn)
6g.121447051G>TCA365558231GJA1c.204G>T (p.Lys68Asn)
6g.121447052T>ACA365558232GJA1c.205T>A (p.Ser69Thr)
6g.121447052T>CCA365558233GJA1c.205T>C (p.Ser69Pro)
6g.121447052T>GCA365558234GJA1c.205T>G (p.Ser69Ala)
6g.121447053C>ACA365558235GJA1c.206C>A (p.Ser69Tyr)
6g.121447053C>GCA365558236GJA1c.206C>G (p.Ser69Cys)
6g.121447053C>TCA365558237GJA1c.206C>T (p.Ser69Phe)
6g.121447054T>ACA452134236GJA1c.207T>A (p.Ser69=)
6g.121447054T>CCA452134238GJA1c.207T>C (p.Ser69=)
6g.121447054T>GCA452134240GJA1c.207T>G (p.Ser69=)
6g.121447055T>ACA365558238GJA1c.208T>A (p.Phe70Ile)
6g.121447055T>CCA365558240GJA1c.208T>C (p.Phe70Leu)
6g.121447055T>GCA365558241GJA1c.208T>G (p.Phe70Val)
6g.121447056T>ACA365558245GJA1c.209T>A (p.Phe70Tyr)
6g.121447056T>CCA365558247GJA1c.209T>C (p.Phe70Ser)
6g.121447056T>GCA365558244GJA1c.209T>G (p.Phe70Cys)
6g.121447057C>ACA365558249GJA1c.210C>A (p.Phe70Leu)
6g.121447057C>GCA365558250GJA1c.210C>G (p.Phe70Leu)
6g.121447057C>TCA452134248GJA1c.210C>T (p.Phe70=)
6g.121447058C>ACA365558252GJA1c.211C>A (p.Pro71Thr)
6g.121447058C>GCA365558254GJA1c.211C>G (p.Pro71Ala)
6g.121447058C>TCA365558255GJA1c.211C>T (p.Pro71Ser)
6g.121447059C>ACA365558257GJA1c.212C>A (p.Pro71Gln)
6g.121447059C=CA1659501523GJA1c.212C= (p.Pro71=)
6g.121447059C>GCA365558259GJA1c.212C>G (p.Pro71Arg)
6g.121447059C>TCA365558261GJA1c.212C>T (p.Pro71Leu)
dbSNP
6g.121447060A>CCA452134258GJA1c.213A>C (p.Pro71=)
6g.121447060A>GCA452134259GJA1c.213A>G (p.Pro71=)
6g.121447060A>TCA452134261GJA1c.213A>T (p.Pro71=)
6g.121447061A>CCA365558264GJA1c.214A>C (p.Ile72Leu)
6g.121447061A>GCA365558265GJA1c.214A>G (p.Ile72Val)
gnomAD v4
6g.121447061A>TCA365558267GJA1c.214A>T (p.Ile72Phe)
6g.121447061_121447063delinsATCCA1659501524GJA1c.214_216delinsATC (p.Ile72=)
6g.121447062T>ACA365558271GJA1c.215T>A (p.Ile72Asn)
6g.121447062T>CCA365558272GJA1c.215T>C (p.Ile72Thr)
6g.121447062T>GCA365558269GJA1c.215T>G (p.Ile72Ser)
6g.121447066_121447067delCA570510545GJA1c.219_220del (p.His74CysfsTer?)
dbSNP gnomAD v2 gnomAD v4
6g.121447063C>ACA452134262GJA1c.216C>A (p.Ile72=)
gnomAD v4
6g.121447063C=CA1659501525GJA1c.216C= (p.Ile72=)
6g.121447063C>GCA365558273GJA1c.216C>G (p.Ile72Met)
gnomAD v4
6g.121447063C>TCA3981666GJA1c.216C>T (p.Ile72=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.121447064T>ACA365558276GJA1c.217T>A (p.Ser73Thr)
6g.121447064T>CCA365558278GJA1c.217T>C (p.Ser73Pro)
6g.121447064T>GCA365558280GJA1c.217T>G (p.Ser73Ala)
6g.121447065C>ACA365558285GJA1c.218C>A (p.Ser73Tyr)
6g.121447065C>GCA365558281GJA1c.218C>G (p.Ser73Cys)
6g.121447065C>TCA365558283GJA1c.218C>T (p.Ser73Phe)
6g.121447066T>ACA452134270GJA1c.219T>A (p.Ser73=)
6g.121447066T>CCA452134271GJA1c.219T>C (p.Ser73=)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.121447066T>GCA452134272GJA1c.219T>G (p.Ser73=)
6g.121447066T=CA1659501526GJA1c.219T= (p.Ser73=)
6g.121447067C>ACA365558288GJA1c.220C>A (p.His74Asn)
6g.121447067C>GCA365558289GJA1c.220C>G (p.His74Asp)
6g.121447067C>TCA365558290GJA1c.220C>T (p.His74Tyr)
6g.121447068A>CCA365558292GJA1c.221A>C (p.His74Pro)
6g.121447068A>GCA365558294GJA1c.221A>G (p.His74Arg)
6g.121447068A>TCA365558295GJA1c.221A>T (p.His74Leu)
6g.121447068_121447069delCA2578728864GJA1c.221_222del (p.His74ArgfsTer?)
6g.121447069T>ACA365558299GJA1c.222T>A (p.His74Gln)
6g.121447069T>CCA452134279GJA1c.222T>C (p.His74=)
dbSNP gnomAD v4
6g.121447069T>GCA365558297GJA1c.222T>G (p.His74Gln)
6g.121447069T=CA1659501527GJA1c.222T= (p.His74=)
6g.121447070G>ACA365558302GJA1c.223G>A (p.Val75Met)
gnomAD v4
6g.121447070G>CCA365558305GJA1c.223G>C (p.Val75Leu)
gnomAD v4
6g.121447070G>TCA365558304GJA1c.223G>T (p.Val75Leu)
6g.121447071T>ACA365558307GJA1c.224T>A (p.Val75Glu)
6g.121447071T>CCA365558308GJA1c.224T>C (p.Val75Ala)
6g.121447071T>GCA365558310GJA1c.224T>G (p.Val75Gly)
6g.121447072G>ACA452134284GJA1c.225G>A (p.Val75=)
6g.121447072G>CCA452134287GJA1c.225G>C (p.Val75=)
6g.121447072G>TCA452134288GJA1c.225G>T (p.Val75=)
6g.121447073C>ACA127020GJA1c.226C>A (p.Arg76Ser)
ClinVar dbSNP
6g.121447073C=CA1659501528GJA1c.226C= (p.Arg76=)
6g.121447073C>GCA365558313GJA1c.226C>G (p.Arg76Gly)
6g.121447073C>TCA365558314GJA1c.226C>T (p.Arg76Cys)
ClinVar
6g.121447074G>ACA127019GJA1c.227G>A (p.Arg76His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.121447074G>CCA365558318GJA1c.227G>C (p.Arg76Pro)
6g.121447074G=CA1659501529GJA1c.227G= (p.Arg76=)
6g.121447074G>TCA365558320GJA1c.227G>T (p.Arg76Leu)
6g.121447075C>ACA452134291GJA1c.228C>A (p.Arg76=)
6g.121447075C=CA1659501530GJA1c.228C= (p.Arg76=)
6g.121447075C>GCA452134292GJA1c.228C>G (p.Arg76=)
6g.121447075C>TCA452134297GJA1c.228C>T (p.Arg76=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.121447076T>ACA365558321GJA1c.229T>A (p.Phe77Ile)
6g.121447076T>CCA365558322GJA1c.229T>C (p.Phe77Leu)
6g.121447076T>GCA365558323GJA1c.229T>G (p.Phe77Val)
6g.121447077T>ACA365558326GJA1c.230T>A (p.Phe77Tyr)
6g.121447077T>CCA365558324GJA1c.230T>C (p.Phe77Ser)
6g.121447077T>GCA365558325GJA1c.230T>G (p.Phe77Cys)
6g.121447078C>ACA365558327GJA1c.231C>A (p.Phe77Leu)
6g.121447078C=CA1659501531GJA1c.231C= (p.Phe77=)
6g.121447078C>GCA365558329GJA1c.231C>G (p.Phe77Leu)
dbSNP
6g.121447078C>TCA452134301GJA1c.231C>T (p.Phe77=)
gnomAD v4
6g.121447079T>ACA365558331GJA1c.232T>A (p.Trp78Arg)
6g.121447079T>CCA365558333GJA1c.232T>C (p.Trp78Arg)
6g.121447079T>GCA365558334GJA1c.232T>G (p.Trp78Gly)
6g.121447080G>ACA365558335GJA1c.233G>A (p.Trp78Ter)
6g.121447080G>CCA365558336GJA1c.233G>C (p.Trp78Ser)
6g.121447080G>TCA365558337GJA1c.233G>T (p.Trp78Leu)
6g.121447081G>ACA365558338GJA1c.234G>A (p.Trp78Ter)
6g.121447081G>CCA365558340GJA1c.234G>C (p.Trp78Cys)
gnomAD v4
6g.121447081G>TCA365558341GJA1c.234G>T (p.Trp78Cys)
6g.121447082G>ACA365558344GJA1c.235G>A (p.Val79Ile)
6g.121447082G>CCA365558345GJA1c.235G>C (p.Val79Leu)
6g.121447082G>TCA365558343GJA1c.235G>T (p.Val79Phe)
6g.121447083T>ACA365558346GJA1c.236T>A (p.Val79Asp)
6g.121447083T>CCA365558348GJA1c.236T>C (p.Val79Ala)
6g.121447083T>GCA365558350GJA1c.236T>G (p.Val79Gly)
6g.121447084C>ACA452134314GJA1c.237C>A (p.Val79=)
6g.121447084C=CA1659501532GJA1c.237C= (p.Val79=)
6g.121447084C>GCA452134315GJA1c.237C>G (p.Val79=)
6g.121447084C>TCA452134317GJA1c.237C>T (p.Val79=)
dbSNP gnomAD v2 gnomAD v4
6g.121447085C>ACA365558352GJA1c.238C>A (p.Leu80Met)
6g.121447085C>GCA365558353GJA1c.238C>G (p.Leu80Val)
6g.121447085C>TCA452134320GJA1c.238C>T (p.Leu80=)
gnomAD v4
6g.121447086T>ACA365558355GJA1c.239T>A (p.Leu80Gln)
6g.121447086T>CCA365558357GJA1c.239T>C (p.Leu80Pro)
6g.121447086T>GCA365558359GJA1c.239T>G (p.Leu80Arg)
6g.121447087G>ACA452134323GJA1c.240G>A (p.Leu80=)
dbSNP
6g.121447087G>CCA452134324GJA1c.240G>C (p.Leu80=)
6g.121447087G=CA1659501533GJA1c.240G= (p.Leu80=)
6g.121447087G>TCA452134325GJA1c.240G>T (p.Leu80=)
6g.121447088C>ACA365558361GJA1c.241C>A (p.Gln81Lys)
6g.121447088C>GCA365558362GJA1c.241C>G (p.Gln81Glu)
6g.121447088C>TCA365558364GJA1c.241C>T (p.Gln81Ter)
6g.121447089A>CCA365558366GJA1c.242A>C (p.Gln81Pro)
6g.121447089A>GCA365558368GJA1c.242A>G (p.Gln81Arg)
6g.121447089A>TCA365558370GJA1c.242A>T (p.Gln81Leu)
6g.121447090G>ACA452134329GJA1c.243G>A (p.Gln81=)
gnomAD v4
6g.121447090G>CCA365558372GJA1c.243G>C (p.Gln81His)
6g.121447090G>TCA365558374GJA1c.243G>T (p.Gln81His)
6g.121447091A=CA1659501534GJA1c.244A= (p.Ile82=)
6g.121447091A>CCA365558376GJA1c.244A>C (p.Ile82Leu)
dbSNP
6g.121447091A>GCA365558377GJA1c.244A>G (p.Ile82Val)
dbSNP gnomAD v2 gnomAD v4
6g.121447091A>TCA365558379GJA1c.244A>T (p.Ile82Phe)
dbSNP gnomAD v3 gnomAD v4
6g.121447092T>ACA365558381GJA1c.245T>A (p.Ile82Asn)
6g.121447092T>CCA365558383GJA1c.245T>C (p.Ile82Thr)
6g.121447092T>GCA365558385GJA1c.245T>G (p.Ile82Ser)
6g.121447093C>ACA452134336GJA1c.246C>A (p.Ile82=)
dbSNP
6g.121447093C=CA1659501535GJA1c.246C= (p.Ile82=)
6g.121447093C>GCA365558386GJA1c.246C>G (p.Ile82Met)
ClinVar dbSNP
6g.121447093C>TCA452134339GJA1c.246C>T (p.Ile82=)
COSMIC
6g.121447094A>CCA365558389GJA1c.247A>C (p.Ile83Leu)
6g.121447094A>GCA365558390GJA1c.247A>G (p.Ile83Val)
6g.121447094A>TCA365558391GJA1c.247A>T (p.Ile83Leu)
6g.121447095T>ACA365558394GJA1c.248T>A (p.Ile83Lys)
6g.121447095T>CCA365558395GJA1c.248T>C (p.Ile83Thr)
6g.121447095T>GCA365558397GJA1c.248T>G (p.Ile83Arg)
6g.121447096A>CCA452134344GJA1c.249A>C (p.Ile83=)
6g.121447096A>GCA365558399GJA1c.249A>G (p.Ile83Met)
6g.121447096A>TCA452134347GJA1c.249A>T (p.Ile83=)
gnomAD v4
6g.121447097T>ACA365558403GJA1c.250T>A (p.Phe84Ile)
6g.121447097T>CCA365558405GJA1c.250T>C (p.Phe84Leu)
6g.121447097T>GCA365558401GJA1c.250T>G (p.Phe84Val)

Number of alleles fetched