Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.230710634G>ACA1448355AGTc.190C>T (p.Gln64Ter)
n.701C>T
c.217C>T (p.Gln73Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710634G>CCA345207429AGTc.190C>G (p.Gln64Glu)
n.701C>G
c.217C>G (p.Gln73Glu)
1g.230710634G=CA1226658636AGTc.190C= (p.Gln64=)
n.701C=
c.217C= (p.Gln73=)
1g.230710634G>TCA345207430AGTc.190C>A (p.Gln64Lys)
n.701C>A
c.217C>A (p.Gln73Lys)
1g.230710635A>CCA345207431AGTc.189T>G (p.Ile63Met)
n.700T>G
c.216T>G (p.Ile72Met)
1g.230710635A>GCA424036713AGTc.189T>C (p.Ile63=)
n.700T>C
c.216T>C (p.Ile72=)
1g.230710635A>TCA424036715AGTc.189T>A (p.Ile63=)
n.700T>A
c.216T>A (p.Ile72=)
1g.230710636A>CCA345207432AGTc.188T>G (p.Ile63Ser)
n.699T>G
c.215T>G (p.Ile72Ser)
1g.230710636A>GCA345207433AGTc.188T>C (p.Ile63Thr)
n.699T>C
c.215T>C (p.Ile72Thr)
gnomAD v4
1g.230710636A>TCA345207434AGTc.188T>A (p.Ile63Asn)
n.699T>A
c.215T>A (p.Ile72Asn)
1g.230710637T>ACA345207435AGTc.187A>T (p.Ile63Phe)
n.698A>T
c.214A>T (p.Ile72Phe)
1g.230710637T>CCA345207436AGTc.187A>G (p.Ile63Val)
n.698A>G
c.214A>G (p.Ile72Val)
dbSNP gnomAD v2 gnomAD v4
1g.230710637T>GCA345207437AGTc.187A>C (p.Ile63Leu)
n.698A>C
c.214A>C (p.Ile72Leu)
1g.230710637T=CA1226658637AGTc.187A= (p.Ile63=)
n.698A=
c.214A= (p.Ile72=)
1g.230710638T>ACA424036718AGTc.186A>T (p.Pro62=)
n.697A>T
c.213A>T (p.Pro71=)
1g.230710638T>CCA424036720AGTc.186A>G (p.Pro62=)
n.697A>G
c.213A>G (p.Pro71=)
dbSNP
1g.230710638T>GCA424036722AGTc.186A>C (p.Pro62=)
n.697A>C
c.213A>C (p.Pro71=)
1g.230710639G>ACA1448356AGTc.185C>T (p.Pro62Leu)
n.696C>T
c.212C>T (p.Pro71Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710639G>CCA345207439AGTc.185C>G (p.Pro62Arg)
n.696C>G
c.212C>G (p.Pro71Arg)
1g.230710639G=CA1141289042AGTc.185C= (p.Pro62=)
n.696C=
c.212C= (p.Pro71=)
1g.230710639G>TCA345207438AGTc.185C>A (p.Pro62Gln)
n.696C>A
c.212C>A (p.Pro71Gln)
1g.230710640G>ACA345207440AGTc.184C>T (p.Pro62Ser)
n.695C>T
c.211C>T (p.Pro71Ser)
1g.230710640G>CCA345207441AGTc.184C>G (p.Pro62Ala)
n.695C>G
c.211C>G (p.Pro71Ala)
1g.230710640G>TCA345207442AGTc.184C>A (p.Pro62Thr)
n.695C>A
c.211C>A (p.Pro71Thr)
COSMIC
1g.230710641A>CCA424036725AGTc.183T>G (p.Ala61=)
n.694T>G
c.210T>G (p.Ala70=)
1g.230710641A>GCA424036726AGTc.183T>C (p.Ala61=)
n.694T>C
c.210T>C (p.Ala70=)
1g.230710641A>TCA424036727AGTc.183T>A (p.Ala61=)
n.694T>A
c.210T>A (p.Ala70=)
gnomAD v4
1g.230710642G>ACA345207443AGTc.182C>T (p.Ala61Val)
n.693C>T
c.209C>T (p.Ala70Val)
gnomAD v4
1g.230710642G>CCA345207444AGTc.182C>G (p.Ala61Gly)
n.693C>G
c.209C>G (p.Ala70Gly)
1g.230710642G>TCA345207445AGTc.182C>A (p.Ala61Asp)
n.693C>A
c.209C>A (p.Ala70Asp)
COSMIC
1g.230710643C>ACA345207446AGTc.181G>T (p.Ala61Ser)
n.692G>T
c.208G>T (p.Ala70Ser)
1g.230710643C=CA1146203446AGTc.181G= (p.Ala61=)
n.692G=
c.208G= (p.Ala70=)
1g.230710643C>GCA345207447AGTc.181G>C (p.Ala61Pro)
n.692G>C
c.208G>C (p.Ala70Pro)
1g.230710643C>TCA38872188AGTc.181G>A (p.Ala61Thr)
n.692G>A
c.208G>A (p.Ala70Thr)
dbSNP gnomAD v4
1g.230710644A=CA1226658641AGTc.180T= (p.Pro60=)
n.691T=
c.207T= (p.Pro69=)
1g.230710644A>CCA424036731AGTc.180T>G (p.Pro60=)
n.691T>G
c.207T>G (p.Pro69=)
gnomAD v4
1g.230710644A>GCA424036730AGTc.180T>C (p.Pro60=)
n.691T>C
c.207T>C (p.Pro69=)
dbSNP
1g.230710644A>TCA424036729AGTc.180T>A (p.Pro60=)
n.691T>A
c.207T>A (p.Pro69=)
1g.230710645G>ACA1448357AGTc.179C>T (p.Pro60Leu)
n.690C>T
c.206C>T (p.Pro69Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710645G>CCA345207448AGTc.179C>G (p.Pro60Arg)
n.690C>G
c.206C>G (p.Pro69Arg)
1g.230710645G=CA1147552511AGTc.179C= (p.Pro60=)
n.690C=
c.206C= (p.Pro69=)
1g.230710645G>TCA345207449AGTc.179C>A (p.Pro60His)
n.690C>A
c.206C>A (p.Pro69His)
1g.230710646G>ACA345207451AGTc.178C>T (p.Pro60Ser)
n.689C>T
c.205C>T (p.Pro69Ser)
dbSNP gnomAD v4
1g.230710646G>CCA345207452AGTc.178C>G (p.Pro60Ala)
n.689C>G
c.205C>G (p.Pro69Ala)
1g.230710646G=CA1226658647AGTc.178C= (p.Pro60=)
n.689C=
c.205C= (p.Pro69=)
1g.230710646G>TCA345207450AGTc.178C>A (p.Pro60Thr)
n.689C>A
c.205C>A (p.Pro69Thr)
dbSNP gnomAD v2 gnomAD v4
1g.230710647T>ACA424036732AGTc.177A>T (p.Ile59=)
n.688A>T
c.204A>T (p.Ile68=)
1g.230710647T>CCA345207453AGTc.177A>G (p.Ile59Met)
n.688A>G
c.204A>G (p.Ile68Met)
1g.230710647T>GCA424036734AGTc.177A>C (p.Ile59=)
n.688A>C
c.204A>C (p.Ile68=)
1g.230710648A=CA1226658652AGTc.176T= (p.Ile59=)
n.687T=
c.203T= (p.Ile68=)
1g.230710648A>CCA345207456AGTc.176T>G (p.Ile59Arg)
n.687T>G
c.203T>G (p.Ile68Arg)
1g.230710648A>GCA345207454AGTc.176T>C (p.Ile59Thr)
n.687T>C
c.203T>C (p.Ile68Thr)
dbSNP
1g.230710648A>TCA345207455AGTc.176T>A (p.Ile59Lys)
n.687T>A
c.203T>A (p.Ile68Lys)
1g.230710649_230710651dupCA2650971416AGTc.174_176dup (p.Ile59_Pro60insIle)
n.685_687dup
c.201_203dup (p.Ile68_Pro69insIle)
gnomAD v4
1g.230710649T>ACA345207457AGTc.175A>T (p.Ile59Leu)
n.686A>T
c.202A>T (p.Ile68Leu)
1g.230710649T>CCA345207458AGTc.175A>G (p.Ile59Val)
n.686A>G
c.202A>G (p.Ile68Val)
1g.230710649T>GCA345207459AGTc.175A>C (p.Ile59Leu)
n.686A>C
c.202A>C (p.Ile68Leu)
1g.230710650G>ACA424036740AGTc.174C>T (p.Phe58=)
n.685C>T
c.201C>T (p.Phe67=)
COSMIC
1g.230710650G>CCA1448358AGTc.174C>G (p.Phe58Leu)
n.685C>G
c.201C>G (p.Phe67Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710650G=CA1143684692AGTc.174C= (p.Phe58=)
n.685C=
c.201C= (p.Phe67=)
1g.230710650G>TCA345207460AGTc.174C>A (p.Phe58Leu)
n.685C>A
c.201C>A (p.Phe67Leu)
1g.230710651A>CCA345207461AGTc.173T>G (p.Phe58Cys)
n.684T>G
c.200T>G (p.Phe67Cys)
1g.230710651A>GCA345207462AGTc.173T>C (p.Phe58Ser)
n.684T>C
c.200T>C (p.Phe67Ser)
1g.230710651A>TCA345207463AGTc.173T>A (p.Phe58Tyr)
n.684T>A
c.200T>A (p.Phe67Tyr)
1g.230710652A>CCA345207464AGTc.172T>G (p.Phe58Val)
n.683T>G
c.199T>G (p.Phe67Val)
1g.230710652A>GCA345207465AGTc.172T>C (p.Phe58Leu)
n.683T>C
c.199T>C (p.Phe67Leu)
1g.230710652A>TCA345207466AGTc.172T>A (p.Phe58Ile)
n.683T>A
c.199T>A (p.Phe67Ile)
1g.230710653G>ACA424036745AGTc.171C>T (p.Thr57=)
n.682C>T
c.198C>T (p.Thr66=)
1g.230710653G>CCA424036746AGTc.171C>G (p.Thr57=)
n.682C>G
c.198C>G (p.Thr66=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710653G=CA1226658659AGTc.171C= (p.Thr57=)
n.682C=
c.198C= (p.Thr66=)
1g.230710653G>TCA1448359AGTc.171C>A (p.Thr57=)
n.682C>A
c.198C>A (p.Thr66=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710654G>ACA345207467AGTc.170C>T (p.Thr57Ile)
n.681C>T
c.197C>T (p.Thr66Ile)
gnomAD v4
1g.230710654G>CCA345207468AGTc.170C>G (p.Thr57Ser)
n.681C>G
c.197C>G (p.Thr66Ser)
1g.230710654G>TCA345207469AGTc.170C>A (p.Thr57Asn)
n.681C>A
c.197C>A (p.Thr66Asn)
1g.230710655T>ACA345207470AGTc.169A>T (p.Thr57Ser)
n.680A>T
c.196A>T (p.Thr66Ser)
1g.230710655T>CCA345207471AGTc.169A>G (p.Thr57Ala)
n.680A>G
c.196A>G (p.Thr66Ala)
1g.230710655T>GCA345207472AGTc.169A>C (p.Thr57Pro)
n.680A>C
c.196A>C (p.Thr66Pro)
dbSNP gnomAD v2 gnomAD v4
1g.230710655T=CA1226658665AGTc.169A= (p.Thr57=)
n.680A=
c.196A= (p.Thr66=)
1g.230710656G>ACA424036751AGTc.168C>T (p.Pro56=)
n.679C>T
c.195C>T (p.Pro65=)
1g.230710656G>CCA424036752AGTc.168C>G (p.Pro56=)
n.679C>G
c.195C>G (p.Pro65=)
1g.230710656G>TCA424036754AGTc.168C>A (p.Pro56=)
n.679C>A
c.195C>A (p.Pro65=)
1g.230710657G>ACA345207473AGTc.167C>T (p.Pro56Leu)
n.678C>T
c.194C>T (p.Pro65Leu)
gnomAD v4
1g.230710657G>CCA345207474AGTc.167C>G (p.Pro56Arg)
n.678C>G
c.194C>G (p.Pro65Arg)
1g.230710657G>TCA345207475AGTc.167C>A (p.Pro56His)
n.678C>A
c.194C>A (p.Pro65His)
1g.230710658G>ACA345207476AGTc.166C>T (p.Pro56Ser)
n.677C>T
c.193C>T (p.Pro65Ser)
1g.230710658G>CCA345207477AGTc.166C>G (p.Pro56Ala)
n.677C>G
c.193C>G (p.Pro65Ala)
1g.230710658G>TCA345207478AGTc.166C>A (p.Pro56Thr)
n.677C>A
c.193C>A (p.Pro65Thr)
1g.230710659G>ACA38872197AGTc.165C>T (p.Asp55=)
n.676C>T
c.192C>T (p.Asp64=)
dbSNP
1g.230710659G>CCA345207480AGTc.165C>G (p.Asp55Glu)
n.676C>G
c.192C>G (p.Asp64Glu)
1g.230710659G=CA1226658669AGTc.165C= (p.Asp55=)
n.676C=
c.192C= (p.Asp64=)
1g.230710659G>TCA345207479AGTc.165C>A (p.Asp55Glu)
n.676C>A
c.192C>A (p.Asp64Glu)
1g.230710660T>ACA345207481AGTc.164A>T (p.Asp55Val)
n.675A>T
c.191A>T (p.Asp64Val)
1g.230710660T>CCA345207482AGTc.164A>G (p.Asp55Gly)
n.675A>G
c.191A>G (p.Asp64Gly)
1g.230710660T>GCA345207483AGTc.164A>C (p.Asp55Ala)
n.675A>C
c.191A>C (p.Asp64Ala)
1g.230710661C>ACA1448360AGTc.163G>T (p.Asp55Tyr)
n.674G>T
c.190G>T (p.Asp64Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710661C=CA1144000887AGTc.163G= (p.Asp55=)
n.674G=
c.190G= (p.Asp64=)
1g.230710661C>GCA345207484AGTc.163G>C (p.Asp55His)
n.674G>C
c.190G>C (p.Asp64His)
gnomAD v4
1g.230710661C>TCA345207485AGTc.163G>A (p.Asp55Asn)
n.674G>A
c.190G>A (p.Asp64Asn)
dbSNP
1g.230710662T>ACA345207487AGTc.162A>T (p.Lys54Asn)
n.673A>T
c.189A>T (p.Lys63Asn)
1g.230710662T>CCA424036878AGTc.162A>G (p.Lys54=)
n.673A>G
c.189A>G (p.Lys63=)
1g.230710662T>GCA345207486AGTc.162A>C (p.Lys54Asn)
n.673A>C
c.189A>C (p.Lys63Asn)
1g.230710662_230710663delinsACA2573051513AGTc.161_162delinsT (p.Lys54MetfsTer28)
n.672_673delinsT
c.188_189delinsT (p.Lys63MetfsTer28)
ClinVar dbSNP
1g.230710663T>ACA345207488AGTc.161A>T (p.Lys54Ile)
n.672A>T
c.188A>T (p.Lys63Ile)
1g.230710663T>CCA345207489AGTc.161A>G (p.Lys54Arg)
n.672A>G
c.188A>G (p.Lys63Arg)
1g.230710663T>GCA345207490AGTc.161A>C (p.Lys54Thr)
n.672A>C
c.188A>C (p.Lys63Thr)
1g.230710664T>ACA345207491AGTc.160A>T (p.Lys54Ter)
n.671A>T
c.187A>T (p.Lys63Ter)
1g.230710664T>CCA1448361AGTc.160A>G (p.Lys54Glu)
n.671A>G
c.187A>G (p.Lys63Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710664T>GCA345207492AGTc.160A>C (p.Lys54Gln)
n.671A>C
c.187A>C (p.Lys63Gln)
1g.230710664T=CA1148898860AGTc.160A= (p.Lys54=)
n.671A=
c.187A= (p.Lys63=)
1g.230710665G>ACA424036883AGTc.159C>T (p.Pro53=)
n.670C>T
c.186C>T (p.Pro62=)
1g.230710665G>CCA424036884AGTc.159C>G (p.Pro53=)
n.670C>G
c.186C>G (p.Pro62=)
1g.230710665G>TCA424036885AGTc.159C>A (p.Pro53=)
n.670C>A
c.186C>A (p.Pro62=)
1g.230710666G>ACA345207493AGTc.158C>T (p.Pro53Leu)
n.669C>T
c.185C>T (p.Pro62Leu)
dbSNP gnomAD v4
1g.230710666G>CCA345207495AGTc.158C>G (p.Pro53Arg)
n.669C>G
c.185C>G (p.Pro62Arg)
1g.230710666G=CA1226658676AGTc.158C= (p.Pro53=)
n.669C=
c.185C= (p.Pro62=)
1g.230710666G>TCA345207494AGTc.158C>A (p.Pro53His)
n.669C>A
c.185C>A (p.Pro62His)
1g.230710667G>ACA1448362AGTc.157C>T (p.Pro53Ser)
n.668C>T
c.184C>T (p.Pro62Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710667G>CCA345207496AGTc.157C>G (p.Pro53Ala)
n.668C>G
c.184C>G (p.Pro62Ala)
1g.230710667G=CA1141866010AGTc.157C= (p.Pro53=)
n.668C=
c.184C= (p.Pro62=)
1g.230710667G>TCA38872237AGTc.157C>A (p.Pro53Thr)
n.668C>A
c.184C>A (p.Pro62Thr)
dbSNP gnomAD v4
1g.230710668C>ACA1448363AGTc.156G>T (p.Lys52Asn)
n.667G>T
c.183G>T (p.Lys61Asn)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.230710668C=CA1226658683AGTc.156G= (p.Lys52=)
n.667G=
c.183G= (p.Lys61=)
1g.230710668C>GCA345207497AGTc.156G>C (p.Lys52Asn)
n.667G>C
c.183G>C (p.Lys61Asn)
1g.230710668C>TCA424036889AGTc.156G>A (p.Lys52=)
n.667G>A
c.183G>A (p.Lys61=)
dbSNP gnomAD v3 gnomAD v4
1g.230710669T>ACA345207498AGTc.155A>T (p.Lys52Met)
n.666A>T
c.182A>T (p.Lys61Met)
1g.230710669T>CCA345207499AGTc.155A>G (p.Lys52Arg)
n.666A>G
c.182A>G (p.Lys61Arg)
1g.230710669T>GCA345207500AGTc.155A>C (p.Lys52Thr)
n.666A>C
c.182A>C (p.Lys61Thr)
1g.230710670T>ACA345207501AGTc.154A>T (p.Lys52Ter)
n.665A>T
c.181A>T (p.Lys61Ter)
1g.230710670T>CCA345207502AGTc.154A>G (p.Lys52Glu)
n.665A>G
c.181A>G (p.Lys61Glu)
1g.230710670T>GCA345207503AGTc.154A>C (p.Lys52Gln)
n.665A>C
c.181A>C (p.Lys61Gln)
1g.230710671C>ACA424036891AGTc.153G>T (p.Gly51=)
n.664G>T
c.180G>T (p.Gly60=)
1g.230710671C>GCA424036893AGTc.153G>C (p.Gly51=)
n.664G>C
c.180G>C (p.Gly60=)
1g.230710671C>TCA424036892AGTc.153G>A (p.Gly51=)
n.664G>A
c.180G>A (p.Gly60=)
1g.230710673delCA2650971417AGTc.153del (p.Lys52SerfsTer?)
n.664del
c.180del (p.Lys61SerfsTer?)
gnomAD v4
1g.230710672C>ACA345207504AGTc.152G>T (p.Gly51Val)
n.663G>T
c.179G>T (p.Gly60Val)
1g.230710672C=CA1226658689AGTc.152G= (p.Gly51=)
n.663G=
c.179G= (p.Gly60=)
1g.230710672C>GCA345207506AGTc.152G>C (p.Gly51Ala)
n.663G>C
c.179G>C (p.Gly60Ala)
1g.230710672C>TCA345207505AGTc.152G>A (p.Gly51Glu)
n.663G>A
c.179G>A (p.Gly60Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710673C>ACA345207507AGTc.151G>T (p.Gly51Trp)
n.662G>T
c.178G>T (p.Gly60Trp)
gnomAD v4
1g.230710673C=CA1148241940AGTc.151G= (p.Gly51=)
n.662G=
c.178G= (p.Gly60=)
1g.230710673C>GCA345207508AGTc.151G>C (p.Gly51Arg)
n.662G>C
c.178G>C (p.Gly60Arg)
1g.230710673C>TCA1448364AGTc.151G>A (p.Gly51Arg)
n.662G>A
c.178G>A (p.Gly60Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710674G>ACA1448365AGTc.150C>T (p.Ala50=)
n.661C>T
c.177C>T (p.Ala59=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710674G>CCA424036900AGTc.150C>G (p.Ala50=)
n.661C>G
c.177C>G (p.Ala59=)
1g.230710674G=CA1226658695AGTc.150C= (p.Ala50=)
n.661C=
c.177C= (p.Ala59=)
1g.230710674G>TCA424036901AGTc.150C>A (p.Ala50=)
n.661C>A
c.177C>A (p.Ala59=)
1g.230710675G>ACA345207511AGTc.149C>T (p.Ala50Val)
n.660C>T
c.176C>T (p.Ala59Val)
COSMIC
1g.230710675G>CCA345207509AGTc.149C>G (p.Ala50Gly)
n.660C>G
c.176C>G (p.Ala59Gly)
1g.230710675G>TCA345207510AGTc.149C>A (p.Ala50Asp)
n.660C>A
c.176C>A (p.Ala59Asp)
1g.230710676C>ACA345207512AGTc.148G>T (p.Ala50Ser)
n.659G>T
c.175G>T (p.Ala59Ser)
1g.230710676C=CA1226658697AGTc.148G= (p.Ala50=)
n.659G=
c.175G= (p.Ala59=)
1g.230710676C>GCA345207513AGTc.148G>C (p.Ala50Pro)
n.659G>C
c.175G>C (p.Ala59Pro)
1g.230710676C>TCA1448366AGTc.148G>A (p.Ala50Thr)
n.659G>A
c.175G>A (p.Ala59Thr)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.230710677A=CA1226658701AGTc.147T= (p.Asn49=)
n.658T=
c.174T= (p.Asn58=)
1g.230710677A>CCA345207514AGTc.147T>G (p.Asn49Lys)
n.658T>G
c.174T>G (p.Asn58Lys)
1g.230710677A>GCA424036903AGTc.147T>C (p.Asn49=)
n.658T>C
c.174T>C (p.Asn58=)
COSMIC
1g.230710677A>TCA345207515AGTc.147T>A (p.Asn49Lys)
n.658T>A
c.174T>A (p.Asn58Lys)
dbSNP gnomAD v2 gnomAD v4
1g.230710678T>ACA345207516AGTc.146A>T (p.Asn49Ile)
n.657A>T
c.173A>T (p.Asn58Ile)
1g.230710678T>CCA345207517AGTc.146A>G (p.Asn49Ser)
n.657A>G
c.173A>G (p.Asn58Ser)
dbSNP gnomAD v2 gnomAD v4
1g.230710678T>GCA345207518AGTc.146A>C (p.Asn49Thr)
n.657A>C
c.173A>C (p.Asn58Thr)
1g.230710678T=CA1226658709AGTc.146A= (p.Asn49=)
n.657A=
c.173A= (p.Asn58=)
1g.230710679T>ACA345207519AGTc.145A>T (p.Asn49Tyr)
n.656A>T
c.172A>T (p.Asn58Tyr)
1g.230710679T>CCA345207520AGTc.145A>G (p.Asn49Asp)
n.656A>G
c.172A>G (p.Asn58Asp)
1g.230710679T>GCA345207521AGTc.145A>C (p.Asn49His)
n.656A>C
c.172A>C (p.Asn58His)
1g.230710680G>ACA424036907AGTc.144C>T (p.Ala48=)
n.655C>T
c.171C>T (p.Ala57=)
1g.230710680G>CCA424036908AGTc.144C>G (p.Ala48=)
n.655C>G
c.171C>G (p.Ala57=)
1g.230710680G=CA1145190341AGTc.144C= (p.Ala48=)
n.655C=
c.171C= (p.Ala57=)
1g.230710680G>TCA1448367AGTc.144C>A (p.Ala48=)
n.655C>A
c.171C>A (p.Ala57=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710681G>ACA345207522AGTc.143C>T (p.Ala48Val)
n.654C>T
c.170C>T (p.Ala57Val)
dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.230710681G>CCA345207523AGTc.143C>G (p.Ala48Gly)
n.654C>G
c.170C>G (p.Ala57Gly)
1g.230710681G=CA1226658717AGTc.143C= (p.Ala48=)
n.654C=
c.170C= (p.Ala57=)
1g.230710681G>TCA38872281AGTc.143C>A (p.Ala48Asp)
n.654C>A
c.170C>A (p.Ala57Asp)
dbSNP COSMIC
1g.230710682C>ACA345207524AGTc.142G>T (p.Ala48Ser)
n.653G>T
c.169G>T (p.Ala57Ser)
1g.230710682C>GCA345207525AGTc.142G>C (p.Ala48Pro)
n.653G>C
c.169G>C (p.Ala57Pro)
1g.230710682C>TCA345207526AGTc.142G>A (p.Ala48Thr)
n.653G>A
c.169G>A (p.Ala57Thr)
1g.230710683C>ACA345207527AGTc.141G>T (p.Lys47Asn)
n.652G>T
c.168G>T (p.Lys56Asn)
dbSNP
1g.230710683C=CA1226658724AGTc.141G= (p.Lys47=)
n.652G=
c.168G= (p.Lys56=)
1g.230710683C>GCA345207528AGTc.141G>C (p.Lys47Asn)
n.652G>C
c.168G>C (p.Lys56Asn)
1g.230710683C>TCA1448368AGTc.141G>A (p.Lys47=)
n.652G>A
c.168G>A (p.Lys56=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710684T>ACA1448369AGTc.140A>T (p.Lys47Met)
n.651A>T
c.167A>T (p.Lys56Met)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710684T>CCA345207529AGTc.140A>G (p.Lys47Arg)
n.651A>G
c.167A>G (p.Lys56Arg)
1g.230710684T>GCA345207530AGTc.140A>C (p.Lys47Thr)
n.651A>C
c.167A>C (p.Lys56Thr)
1g.230710684T=CA1226658728AGTc.140A= (p.Lys47=)
n.651A=
c.167A= (p.Lys56=)
1g.230710685T>ACA345207533AGTc.139A>T (p.Lys47Ter)
n.650A>T
c.166A>T (p.Lys56Ter)
1g.230710685T>CCA345207532AGTc.139A>G (p.Lys47Glu)
n.650A>G
c.166A>G (p.Lys56Glu)
dbSNP
1g.230710685T>GCA345207531AGTc.139A>C (p.Lys47Gln)
n.650A>C
c.166A>C (p.Lys56Gln)
1g.230710685T=CA1226658736AGTc.139A= (p.Lys47=)
n.650A=
c.166A= (p.Lys56=)
1g.230710686T>ACA424036920AGTc.138A>T (p.Ala46=)
n.649A>T
c.165A>T (p.Ala55=)
1g.230710686T>CCA424036921AGTc.138A>G (p.Ala46=)
n.649A>G
c.165A>G (p.Ala55=)
COSMIC
1g.230710686T>GCA424036922AGTc.138A>C (p.Ala46=)
n.649A>C
c.165A>C (p.Ala55=)
1g.230710687G>ACA345207536AGTc.137C>T (p.Ala46Val)
n.648C>T
c.164C>T (p.Ala55Val)
1g.230710687G>CCA345207534AGTc.137C>G (p.Ala46Gly)
n.648C>G
c.164C>G (p.Ala55Gly)
1g.230710687G>TCA345207535AGTc.137C>A (p.Ala46Glu)
n.648C>A
c.164C>A (p.Ala55Glu)
1g.230710688C>ACA345207537AGTc.136G>T (p.Ala46Ser)
n.647G>T
c.163G>T (p.Ala55Ser)
1g.230710688C>GCA345207538AGTc.136G>C (p.Ala46Pro)
n.647G>C
c.163G>C (p.Ala55Pro)
1g.230710688C>TCA345207539AGTc.136G>A (p.Ala46Thr)
n.647G>A
c.163G>A (p.Ala55Thr)
gnomAD v4
1g.230710689C>ACA424036926AGTc.135G>T (p.Leu45=)
n.646G>T
c.162G>T (p.Leu54=)
1g.230710689C=CA1226658740AGTc.135G= (p.Leu45=)
n.646G=
c.162G= (p.Leu54=)
1g.230710689C>GCA424036927AGTc.135G>C (p.Leu45=)
n.646G>C
c.162G>C (p.Leu54=)
1g.230710689C>TCA424036928AGTc.135G>A (p.Leu45=)
n.646G>A
c.162G>A (p.Leu54=)
ClinVar dbSNP
1g.230710690A>CCA345207540AGTc.134T>G (p.Leu45Arg)
n.645T>G
c.161T>G (p.Leu54Arg)
1g.230710690A>GCA345207541AGTc.134T>C (p.Leu45Pro)
n.645T>C
c.161T>C (p.Leu54Pro)
1g.230710690A>TCA345207542AGTc.134T>A (p.Leu45Gln)
n.645T>A
c.161T>A (p.Leu54Gln)
1g.230710691G>ACA424036933AGTc.133C>T (p.Leu45=)
n.644C>T
c.160C>T (p.Leu54=)
1g.230710691G>CCA345207543AGTc.133C>G (p.Leu45Val)
n.644C>G
c.160C>G (p.Leu54Val)
1g.230710691G=CA1226658745AGTc.133C= (p.Leu45=)
n.644C=
c.160C= (p.Leu54=)
1g.230710691G>TCA345207544AGTc.133C>A (p.Leu45Met)
n.644C>A
c.160C>A (p.Leu54Met)
dbSNP gnomAD v2 gnomAD v4
1g.230710692C>ACA345207545AGTc.132G>T (p.Gln44His)
n.643G>T
c.159G>T (p.Gln53His)
1g.230710692C>GCA345207546AGTc.132G>C (p.Gln44His)
n.643G>C
c.159G>C (p.Gln53His)
1g.230710692C>TCA424036936AGTc.132G>A (p.Gln44=)
n.643G>A
c.159G>A (p.Gln53=)
1g.230710693T>ACA345207549AGTc.131A>T (p.Gln44Leu)
n.642A>T
c.158A>T (p.Gln53Leu)
1g.230710693T>CCA345207548AGTc.131A>G (p.Gln44Arg)
n.642A>G
c.158A>G (p.Gln53Arg)
1g.230710693T>GCA345207547AGTc.131A>C (p.Gln44Pro)
n.642A>C
c.158A>C (p.Gln53Pro)
1g.230710694G>ACA38872313AGTc.130C>T (p.Gln44Ter)
n.641C>T
c.157C>T (p.Gln53Ter)
dbSNP
1g.230710694G>CCA1448370AGTc.130C>G (p.Gln44Glu)
n.641C>G
c.157C>G (p.Gln53Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710694G=CA1139772892AGTc.130C= (p.Gln44=)
n.641C=
c.157C= (p.Gln53=)
1g.230710694G>TCA345207553AGTc.130C>A (p.Gln44Lys)
n.641C>A
c.157C>A (p.Gln53Lys)
gnomAD v4
1g.230710695C>ACA345207554AGTc.129G>T (p.Glu43Asp)
n.640G>T
c.156G>T (p.Glu52Asp)
1g.230710695C=CA1226658756AGTc.129G= (p.Glu43=)
n.640G=
c.156G= (p.Glu52=)
1g.230710695C>GCA345207556AGTc.129G>C (p.Glu43Asp)
n.640G>C
c.156G>C (p.Glu52Asp)
1g.230710695C>TCA424036942AGTc.129G>A (p.Glu43=)
n.640G>A
c.156G>A (p.Glu52=)
dbSNP
1g.230710696T>ACA345207558AGTc.128A>T (p.Glu43Val)
n.639A>T
c.155A>T (p.Glu52Val)
1g.230710696T>CCA345207560AGTc.128A>G (p.Glu43Gly)
n.639A>G
c.155A>G (p.Glu52Gly)
gnomAD v4
1g.230710696T>GCA345207561AGTc.128A>C (p.Glu43Ala)
n.639A>C
c.155A>C (p.Glu52Ala)
1g.230710697C>ACA345207562AGTc.127G>T (p.Glu43Ter)
n.638G>T
c.154G>T (p.Glu52Ter)
1g.230710697C>GCA345207565AGTc.127G>C (p.Glu43Gln)
n.638G>C
c.154G>C (p.Glu52Gln)
1g.230710697C>TCA345207566AGTc.127G>A (p.Glu43Lys)
n.638G>A
c.154G>A (p.Glu52Lys)
gnomAD v4
1g.230710698A>CCA345207568AGTc.126T>G (p.Cys42Trp)
n.637T>G
c.153T>G (p.Cys51Trp)
1g.230710698A>GCA424036944AGTc.126T>C (p.Cys42=)
n.637T>C
c.153T>C (p.Cys51=)
1g.230710698A>TCA345207569AGTc.126T>A (p.Cys42Ter)
n.637T>A
c.153T>A (p.Cys51Ter)
1g.230710699C>ACA345207572AGTc.125G>T (p.Cys42Phe)
n.636G>T
c.152G>T (p.Cys51Phe)
1g.230710699C=CA1226658761AGTc.125G= (p.Cys42=)
n.636G=
c.152G= (p.Cys51=)
1g.230710699C>GCA345207573AGTc.125G>C (p.Cys42Ser)
n.636G>C
c.152G>C (p.Cys51Ser)
dbSNP
1g.230710699C>TCA345207570AGTc.125G>A (p.Cys42Tyr)
n.636G>A
c.152G>A (p.Cys51Tyr)
1g.230710700A=CA1140725505AGTc.124T= (p.Cys42=)
n.635T=
c.151T= (p.Cys51=)
1g.230710700A>CCA345207575AGTc.124T>G (p.Cys42Gly)
n.635T>G
c.151T>G (p.Cys51Gly)
1g.230710700A>GCA1448371AGTc.124T>C (p.Cys42Arg)
n.635T>C
c.151T>C (p.Cys51Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710700A>TCA345207576AGTc.124T>A (p.Cys42Ser)
n.635T>A
c.151T>A (p.Cys51Ser)
1g.230710701G>ACA1448372AGTc.123C>T (p.Thr41=)
n.634C>T
c.150C>T (p.Thr50=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710701G>CCA424036949AGTc.123C>G (p.Thr41=)
n.634C>G
c.150C>G (p.Thr50=)
1g.230710701G=CA1226658771AGTc.123C= (p.Thr41=)
n.634C=
c.150C= (p.Thr50=)
1g.230710701G>TCA424036948AGTc.123C>A (p.Thr41=)
n.634C>A
c.150C>A (p.Thr50=)
1g.230710702G>ACA345207579AGTc.122C>T (p.Thr41Ile)
n.633C>T
c.149C>T (p.Thr50Ile)
1g.230710702G>CCA345207581AGTc.122C>G (p.Thr41Ser)
n.633C>G
c.149C>G (p.Thr50Ser)
1g.230710702G>TCA345207583AGTc.122C>A (p.Thr41Asn)
n.633C>A
c.149C>A (p.Thr50Asn)
gnomAD v4
1g.230710703T>ACA1448373AGTc.121A>T (p.Thr41Ser)
n.632A>T
c.148A>T (p.Thr50Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710703T>CCA38872351AGTc.121A>G (p.Thr41Ala)
n.632A>G
c.148A>G (p.Thr50Ala)
dbSNP
1g.230710703T>GCA345207585AGTc.121A>C (p.Thr41Pro)
n.632A>C
c.148A>C (p.Thr50Pro)
1g.230710703T=CA1143505377AGTc.121A= (p.Thr41=)
n.632A=
c.148A= (p.Thr50=)
1g.230710704A>CCA345207588AGTc.120T>G (p.Ser40Arg)
n.631T>G
c.147T>G (p.Ser49Arg)
1g.230710704A>GCA424036953AGTc.120T>C (p.Ser40=)
n.631T>C
c.147T>C (p.Ser49=)
1g.230710704A>TCA345207590AGTc.120T>A (p.Ser40Arg)
n.631T>A
c.147T>A (p.Ser49Arg)
1g.230710705C>ACA345207591AGTc.119G>T (p.Ser40Ile)
n.630G>T
c.146G>T (p.Ser49Ile)
1g.230710705C=CA1144166944AGTc.119G= (p.Ser40=)
n.630G=
c.146G= (p.Ser49=)
1g.230710705C>GCA345207593AGTc.119G>C (p.Ser40Thr)
n.630G>C
c.146G>C (p.Ser49Thr)
1g.230710705C>TCA1448374AGTc.119G>A (p.Ser40Asn)
n.630G>A
c.146G>A (p.Ser49Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710706T>ACA345207596AGTc.118A>T (p.Ser40Cys)
n.629A>T
c.145A>T (p.Ser49Cys)
1g.230710706T>CCA1448375AGTc.118A>G (p.Ser40Gly)
n.629A>G
c.145A>G (p.Ser49Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710706T>GCA345207598AGTc.118A>C (p.Ser40Arg)
n.629A>C
c.145A>C (p.Ser49Arg)
gnomAD v4
1g.230710706T=CA1226658788AGTc.118A= (p.Ser40=)
n.629A=
c.145A= (p.Ser49=)
1g.230710707C>ACA345207600AGTc.117G>T (p.Glu39Asp)
n.628G>T
c.144G>T (p.Glu48Asp)
1g.230710707C=CA1226658793AGTc.117G= (p.Glu39=)
n.628G=
c.144G= (p.Glu48=)
1g.230710707C>GCA345207601AGTc.117G>C (p.Glu39Asp)
n.628G>C
c.144G>C (p.Glu48Asp)
gnomAD v4
1g.230710707C>TCA1448376AGTc.117G>A (p.Glu39=)
n.628G>A
c.144G>A (p.Glu48=)
dbSNP ExAC gnomAD v2
1g.230710708T>ACA345207604AGTc.116A>T (p.Glu39Val)
n.627A>T
c.143A>T (p.Glu48Val)
1g.230710708T>CCA345207606AGTc.116A>G (p.Glu39Gly)
n.627A>G
c.143A>G (p.Glu48Gly)
1g.230710708T>GCA345207607AGTc.116A>C (p.Glu39Ala)
n.627A>C
c.143A>C (p.Glu48Ala)
gnomAD v4
1g.230710709C>ACA345207609AGTc.115G>T (p.Glu39Ter)
n.626G>T
c.142G>T (p.Glu48Ter)
1g.230710709C=CA1226658794AGTc.115G= (p.Glu39=)
n.626G=
c.142G= (p.Glu48=)
1g.230710709C>GCA345207611AGTc.115G>C (p.Glu39Gln)
n.626G>C
c.142G>C (p.Glu48Gln)
1g.230710709C>TCA1448377AGTc.115G>A (p.Glu39Lys)
n.626G>A
c.142G>A (p.Glu48Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710710A>CCA345207612AGTc.114T>G (p.Asn38Lys)
n.625T>G
c.141T>G (p.Asn47Lys)
1g.230710710A>GCA424036961AGTc.114T>C (p.Asn38=)
n.625T>C
c.141T>C (p.Asn47=)
dbSNP gnomAD v4
1g.230710710A>TCA345207613AGTc.114T>A (p.Asn38Lys)
n.625T>A
c.141T>A (p.Asn47Lys)
1g.230710711T>ACA345207614AGTc.113A>T (p.Asn38Ile)
n.624A>T
c.140A>T (p.Asn47Ile)
1g.230710711T>CCA38872379AGTc.113A>G (p.Asn38Ser)
n.624A>G
c.140A>G (p.Asn47Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710711T>GCA345207615AGTc.113A>C (p.Asn38Thr)
n.624A>C
c.140A>C (p.Asn47Thr)
1g.230710711T=CA1226658798AGTc.113A= (p.Asn38=)
n.624A=
c.140A= (p.Asn47=)
1g.230710712delCA2650971418AGTc.113del (p.Asn38MetfsTer?)
n.624del
c.140del (p.Asn47MetfsTer?)
gnomAD v4
1g.230710712T>ACA345207618AGTc.112A>T (p.Asn38Tyr)
n.623A>T
c.139A>T (p.Asn47Tyr)
1g.230710712T>CCA345207619AGTc.112A>G (p.Asn38Asp)
n.623A>G
c.139A>G (p.Asn47Asp)
1g.230710712T>GCA1448378AGTc.112A>C (p.Asn38His)
n.623A>C
c.139A>C (p.Asn47His)
dbSNP ExAC gnomAD v4
1g.230710712T=CA1226658800AGTc.112A= (p.Asn38=)
n.623A=
c.139A= (p.Asn47=)
1g.230710713G>ACA424036965AGTc.111C>T (p.His37=)
n.622C>T
c.138C>T (p.His46=)
gnomAD v4
1g.230710713G>CCA345207621AGTc.111C>G (p.His37Gln)
n.622C>G
c.138C>G (p.His46Gln)
1g.230710713G>TCA345207622AGTc.111C>A (p.His37Gln)
n.622C>A
c.138C>A (p.His46Gln)
1g.230710714T>ACA345207625AGTc.110A>T (p.His37Leu)
n.621A>T
c.137A>T (p.His46Leu)
1g.230710714T>CCA345207626AGTc.110A>G (p.His37Arg)
n.621A>G
c.137A>G (p.His46Arg)
1g.230710714T>GCA345207628AGTc.110A>C (p.His37Pro)
n.621A>C
c.137A>C (p.His46Pro)
1g.230710715G>ACA345207630AGTc.109C>T (p.His37Tyr)
n.620C>T
c.136C>T (p.His46Tyr)
1g.230710715G>CCA345207631AGTc.109C>G (p.His37Asp)
n.620C>G
c.136C>G (p.His46Asp)
1g.230710715G>TCA345207633AGTc.109C>A (p.His37Asn)
n.620C>A
c.136C>A (p.His46Asn)
1g.230710716G>ACA424036968AGTc.108C>T (p.Ile36=)
n.619C>T
c.135C>T (p.Ile45=)
gnomAD v4
1g.230710716G>CCA345207634AGTc.108C>G (p.Ile36Met)
n.619C>G
c.135C>G (p.Ile45Met)
1g.230710716G=CA1226658803AGTc.108C= (p.Ile36=)
n.619C=
c.135C= (p.Ile45=)
1g.230710716G>TCA1448379AGTc.108C>A (p.Ile36=)
n.619C>A
c.135C>A (p.Ile45=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710717A>CCA345207637AGTc.107T>G (p.Ile36Ser)
n.618T>G
c.134T>G (p.Ile45Ser)
1g.230710717A>GCA345207640AGTc.107T>C (p.Ile36Thr)
n.618T>C
c.134T>C (p.Ile45Thr)
1g.230710717A>TCA345207638AGTc.107T>A (p.Ile36Asn)
n.618T>A
c.134T>A (p.Ile45Asn)
1g.230710718T>ACA345207642AGTc.106A>T (p.Ile36Phe)
n.617A>T
c.133A>T (p.Ile45Phe)
1g.230710718T>CCA345207643AGTc.106A>G (p.Ile36Val)
n.617A>G
c.133A>G (p.Ile45Val)
1g.230710718T>GCA345207645AGTc.106A>C (p.Ile36Leu)
n.617A>C
c.133A>C (p.Ile45Leu)
1g.230710719G>ACA424036973AGTc.105C>T (p.Val35=)
n.616C>T
c.132C>T (p.Val44=)
1g.230710719G>CCA424036974AGTc.105C>G (p.Val35=)
n.616C>G
c.132C>G (p.Val44=)
1g.230710719G>TCA424036975AGTc.105C>A (p.Val35=)
n.616C>A
c.132C>A (p.Val44=)
ClinVar
1g.230710720A>CCA345207647AGTc.104T>G (p.Val35Gly)
n.615T>G
c.131T>G (p.Val44Gly)
1g.230710720A>GCA345207649AGTc.104T>C (p.Val35Ala)
n.615T>C
c.131T>C (p.Val44Ala)
1g.230710720A>TCA345207650AGTc.104T>A (p.Val35Asp)
n.615T>A
c.131T>A (p.Val44Asp)
1g.230710721C>ACA38872393AGTc.103G>T (p.Val35Phe)
n.614G>T
c.130G>T (p.Val44Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710721C=CA1142137020AGTc.103G= (p.Val35=)
n.614G=
c.130G= (p.Val44=)
1g.230710721C>GCA345207654AGTc.103G>C (p.Val35Leu)
n.614G>C
c.130G>C (p.Val44Leu)
dbSNP
1g.230710721C>TCA1448380AGTc.103G>A (p.Val35Ile)
n.614G>A
c.130G>A (p.Val44Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710722G>ACA38872403AGTc.102C>T (p.Leu34=)
n.613C>T
c.129C>T (p.Leu43=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710722G>CCA424036980AGTc.102C>G (p.Leu34=)
n.613C>G
c.129C>G (p.Leu43=)
1g.230710722G=CA1143723358AGTc.102C= (p.Leu34=)
n.613C=
c.129C= (p.Leu43=)
1g.230710722G>TCA424036981AGTc.102C>A (p.Leu34=)
n.613C>A
c.129C>A (p.Leu43=)
dbSNP gnomAD v3 gnomAD v4
1g.230710723A=CA1226658817AGTc.101T= (p.Leu34=)
n.612T=
c.128T= (p.Leu43=)
1g.230710723A>CCA345207659AGTc.101T>G (p.Leu34Arg)
n.612T>G
c.128T>G (p.Leu43Arg)
dbSNP gnomAD v2 gnomAD v4
1g.230710723A>GCA345207660AGTc.101T>C (p.Leu34Pro)
n.612T>C
c.128T>C (p.Leu43Pro)
1g.230710723A>TCA345207657AGTc.101T>A (p.Leu34His)
n.612T>A
c.128T>A (p.Leu43His)
1g.230710724G>ACA1448381AGTc.100C>T (p.Leu34Phe)
n.611C>T
c.127C>T (p.Leu43Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710724G>CCA345207663AGTc.100C>G (p.Leu34Val)
n.611C>G
c.127C>G (p.Leu43Val)
1g.230710724G=CA1140611018AGTc.100C= (p.Leu34=)
n.611C=
c.127C= (p.Leu43=)
1g.230710724G>TCA345207665AGTc.100C>A (p.Leu34Ile)
n.611C>A
c.127C>A (p.Leu43Ile)
1g.230710725G>ACA1448382AGTc.99C>T (p.His33=)
n.610C>T
c.126C>T (p.His42=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710725G>CCA1448383AGTc.99C>G (p.His33Gln)
n.610C>G
c.126C>G (p.His42Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710725G=CA1226658824AGTc.99C= (p.His33=)
n.610C=
c.126C= (p.His42=)
1g.230710725G>TCA345207668AGTc.99C>A (p.His33Gln)
n.610C>A
c.126C>A (p.His42Gln)
1g.230710726T>ACA345207671AGTc.98A>T (p.His33Leu)
n.609A>T
c.125A>T (p.His42Leu)
1g.230710726T>CCA345207672AGTc.98A>G (p.His33Arg)
n.609A>G
c.125A>G (p.His42Arg)
1g.230710726T>GCA345207673AGTc.98A>C (p.His33Pro)
n.609A>C
c.125A>C (p.His42Pro)
1g.230710727G>ACA345207674AGTc.97C>T (p.His33Tyr)
n.608C>T
c.124C>T (p.His42Tyr)
1g.230710727G>CCA345207676AGTc.97C>G (p.His33Asp)
n.608C>G
c.124C>G (p.His42Asp)
1g.230710727G>TCA345207678AGTc.97C>A (p.His33Asn)
n.608C>A
c.124C>A (p.His42Asn)
1g.230710728G>ACA424036990AGTc.96C>T (p.Phe32=)
n.607C>T
c.123C>T (p.Phe41=)
1g.230710728G>CCA345207679AGTc.96C>G (p.Phe32Leu)
n.607C>G
c.123C>G (p.Phe41Leu)
1g.230710728G>TCA345207681AGTc.96C>A (p.Phe32Leu)
n.607C>A
c.123C>A (p.Phe41Leu)
1g.230710729A>CCA345207686AGTc.95T>G (p.Phe32Cys)
n.606T>G
c.122T>G (p.Phe41Cys)
1g.230710729A>GCA345207685AGTc.95T>C (p.Phe32Ser)
n.606T>C
c.122T>C (p.Phe41Ser)
gnomAD v4
1g.230710729A>TCA345207683AGTc.95T>A (p.Phe32Tyr)
n.606T>A
c.122T>A (p.Phe41Tyr)
1g.230710730A>CCA345207688AGTc.94T>G (p.Phe32Val)
n.605T>G
c.121T>G (p.Phe41Val)
1g.230710730A>GCA345207690AGTc.94T>C (p.Phe32Leu)
n.605T>C
c.121T>C (p.Phe41Leu)
gnomAD v4
1g.230710730A>TCA345207692AGTc.94T>A (p.Phe32Ile)
n.605T>A
c.121T>A (p.Phe41Ile)
1g.230710731G>ACA424036993AGTc.93C>T (p.Pro31=)
n.604C>T
c.120C>T (p.Pro40=)
gnomAD v4
1g.230710731G>CCA424036994AGTc.93C>G (p.Pro31=)
n.604C>G
c.120C>G (p.Pro40=)
dbSNP gnomAD v3 gnomAD v4
1g.230710731G=CA1226658828AGTc.93C= (p.Pro31=)
n.604C=
c.120C= (p.Pro40=)
1g.230710731G>TCA424036995AGTc.93C>A (p.Pro31=)
n.604C>A
c.120C>A (p.Pro40=)
1g.230710732G>ACA1448384AGTc.92C>T (p.Pro31Leu)
n.603C>T
c.119C>T (p.Pro40Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710732G>CCA345207694AGTc.92C>G (p.Pro31Arg)
n.603C>G
c.119C>G (p.Pro40Arg)
1g.230710732G=CA1148399829AGTc.92C= (p.Pro31=)
n.603C=
c.119C= (p.Pro40=)
1g.230710732G>TCA345207696AGTc.92C>A (p.Pro31His)
n.603C>A
c.119C>A (p.Pro40His)
gnomAD v4
1g.230710733G>ACA345207698AGTc.91C>T (p.Pro31Ser)
n.602C>T
c.118C>T (p.Pro40Ser)
1g.230710733G>CCA345207700AGTc.91C>G (p.Pro31Ala)
n.602C>G
c.118C>G (p.Pro40Ala)
1g.230710733G=CA1226658839AGTc.91C= (p.Pro31=)
n.602C=
c.118C= (p.Pro40=)
1g.230710733G>TCA38872442AGTc.91C>A (p.Pro31Thr)
n.602C>A
c.118C>A (p.Pro40Thr)
dbSNP gnomAD v3 gnomAD v4
1g.230710734G>ACA1448385AGTc.90C>T (p.His30=)
n.601C>T
c.117C>T (p.His39=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710734G>CCA345207703AGTc.90C>G (p.His30Gln)
n.601C>G
c.117C>G (p.His39Gln)
1g.230710734G=CA1144110391AGTc.90C= (p.His30=)
n.601C=
c.117C= (p.His39=)
1g.230710734G>TCA345207704AGTc.90C>A (p.His30Gln)
n.601C>A
c.117C>A (p.His39Gln)

Number of alleles fetched