Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.244053916C>ACA424360641ZBTB18c.115C>A (p.Arg39=)
c.*72C>A (n.*72C>A)
c.142C>A (p.Arg48=)
1g.244053916C=CA1230659590ZBTB18c.115C= (p.Arg39=)
c.*72C= (n.*72C=)
c.142C= (p.Arg48=)
1g.244053916C>GCA345672226ZBTB18c.115C>G (p.Arg39Gly)
c.*72C>G (n.*72C>G)
c.142C>G (p.Arg48Gly)
 ClinVar dbSNP
1g.244053916C>TCA345672227ZBTB18c.115C>T (p.Arg39Ter)
c.*72C>T (n.*72C>T)
c.142C>T (p.Arg48Ter)
 ClinVar dbSNP gnomAD v4
1g.244053917G>ACA345672230ZBTB18c.116G>A (p.Arg39Gln)
c.*73G>A (n.*73G>A)
c.143G>A (p.Arg48Gln)
 gnomAD v4 COSMIC
1g.244053917G>CCA345672229ZBTB18c.116G>C (p.Arg39Pro)
c.*73G>C (n.*73G>C)
c.143G>C (p.Arg48Pro)
1g.244053917G=CA2497028764ZBTB18c.116G= (p.Arg39=)
c.*73G= (n.*73G=)
c.143G= (p.Arg48=)
1g.244053917G>TCA345672228ZBTB18c.116G>T (p.Arg39Leu)
c.*73G>T (n.*73G>T)
c.143G>T (p.Arg48Leu)
1g.244053918A>CCA424360644ZBTB18c.117A>C (p.Arg39=)
c.*74A>C (n.*74A>C)
c.144A>C (p.Arg48=)
1g.244053918A>GCA424360643ZBTB18c.117A>G (p.Arg39=)
c.*74A>G (n.*74A>G)
c.144A>G (p.Arg48=)
1g.244053918A>TCA424360642ZBTB18c.117A>T (p.Arg39=)
c.*74A>T (n.*74A>T)
c.144A>T (p.Arg48=)
1g.244053919G>ACA345672231ZBTB18c.118G>A (p.Ala40Thr)
c.*75G>A (n.*75G>A)
c.145G>A (p.Ala49Thr)
1g.244053919G>CCA345672232ZBTB18c.118G>C (p.Ala40Pro)
c.*75G>C (n.*75G>C)
c.145G>C (p.Ala49Pro)
 gnomAD v4
1g.244053919G>TCA345672233ZBTB18c.118G>T (p.Ala40Ser)
c.*75G>T (n.*75G>T)
c.145G>T (p.Ala49Ser)
1g.244053920C>ACA345672234ZBTB18c.119C>A (p.Ala40Asp)
c.*76C>A (n.*76C>A)
c.146C>A (p.Ala49Asp)
1g.244053920C>GCA345672235ZBTB18c.119C>G (p.Ala40Gly)
c.*76C>G (n.*76C>G)
c.146C>G (p.Ala49Gly)
1g.244053920C>TCA345672236ZBTB18c.119C>T (p.Ala40Val)
c.*76C>T (n.*76C>T)
c.146C>T (p.Ala49Val)
1g.244053921T>ACA424360645ZBTB18c.120T>A (p.Ala40=)
c.*77T>A (n.*77T>A)
c.147T>A (p.Ala49=)
1g.244053921T>CCA1484270ZBTB18c.120T>C (p.Ala40=)
c.*77T>C (n.*77T>C)
c.147T>C (p.Ala49=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053921T>GCA424360646ZBTB18c.120T>G (p.Ala40=)
c.*77T>G (n.*77T>G)
c.147T>G (p.Ala49=)
1g.244053921T=CA1144130063ZBTB18c.120T= (p.Ala40=)
c.*77T= (n.*77T=)
c.147T= (p.Ala49=)
1g.244053922G>ACA345672237ZBTB18c.121G>A (p.Val41Ile)
c.*78G>A (n.*78G>A)
c.148G>A (p.Val50Ile)
1g.244053922G>CCA345672238ZBTB18c.121G>C (p.Val41Leu)
c.*78G>C (n.*78G>C)
c.148G>C (p.Val50Leu)
1g.244053922G>TCA345672239ZBTB18c.121G>T (p.Val41Leu)
c.*78G>T (n.*78G>T)
c.148G>T (p.Val50Leu)
1g.244053923T>ACA345672240ZBTB18c.122T>A (p.Val41Glu)
c.*79T>A (n.*79T>A)
c.149T>A (p.Val50Glu)
1g.244053923T>CCA345672241ZBTB18c.122T>C (p.Val41Ala)
c.*79T>C (n.*79T>C)
c.149T>C (p.Val50Ala)
1g.244053923T>GCA345672242ZBTB18c.122T>G (p.Val41Gly)
c.*79T>G (n.*79T>G)
c.149T>G (p.Val50Gly)
1g.244053924A>CCA424360649ZBTB18c.123A>C (p.Val41=)
c.*80A>C (n.*80A>C)
c.150A>C (p.Val50=)
1g.244053924A>GCA424360647ZBTB18c.123A>G (p.Val41=)
c.*80A>G (n.*80A>G)
c.150A>G (p.Val50=)
1g.244053924A>TCA424360648ZBTB18c.123A>T (p.Val41=)
c.*80A>T (n.*80A>T)
c.150A>T (p.Val50=)
1g.244053925C>ACA345672243ZBTB18c.124C>A (p.Leu42Met)
c.*81C>A (n.*81C>A)
c.151C>A (p.Leu51Met)
1g.244053925C=CA1230659591ZBTB18c.124C= (p.Leu42=)
c.*81C= (n.*81C=)
c.151C= (p.Leu51=)
1g.244053925C>GCA345672244ZBTB18c.124C>G (p.Leu42Val)
c.*81C>G (n.*81C>G)
c.151C>G (p.Leu51Val)
1g.244053925C>TCA424360650ZBTB18c.124C>T (p.Leu42=)
c.*81C>T (n.*81C>T)
c.151C>T (p.Leu51=)
 dbSNP gnomAD v3 gnomAD v4
1g.244053925_244053934delCA2560637535ZBTB18c.124_133del (p.Leu42AlafsTer21)
c.*81_*90del (n.*81_*90del)
c.151_160del (p.Leu51AlafsTer21)
1g.244053926T>ACA345672245ZBTB18c.125T>A (p.Leu42Gln)
c.*82T>A (n.*82T>A)
c.152T>A (p.Leu51Gln)
1g.244053926T>CCA345672247ZBTB18c.125T>C (p.Leu42Pro)
c.*82T>C (n.*82T>C)
c.152T>C (p.Leu51Pro)
1g.244053926T>GCA345672246ZBTB18c.125T>G (p.Leu42Arg)
c.*82T>G (n.*82T>G)
c.152T>G (p.Leu51Arg)
1g.244053927G>ACA424360651ZBTB18c.126G>A (p.Leu42=)
c.*83G>A (n.*83G>A)
c.153G>A (p.Leu51=)
1g.244053927G>CCA424360652ZBTB18c.126G>C (p.Leu42=)
c.*83G>C (n.*83G>C)
c.153G>C (p.Leu51=)
1g.244053927G>TCA424360653ZBTB18c.126G>T (p.Leu42=)
c.*83G>T (n.*83G>T)
c.153G>T (p.Leu51=)
1g.244053928G>ACA345672248ZBTB18c.127G>A (p.Ala43Thr)
c.*84G>A (n.*84G>A)
c.154G>A (p.Ala52Thr)
1g.244053928G>CCA345672249ZBTB18c.127G>C (p.Ala43Pro)
c.*84G>C (n.*84G>C)
c.154G>C (p.Ala52Pro)
1g.244053928G>TCA345672250ZBTB18c.127G>T (p.Ala43Ser)
c.*84G>T (n.*84G>T)
c.154G>T (p.Ala52Ser)
1g.244053929C>ACA345672251ZBTB18c.128C>A (p.Ala43Asp)
c.*85C>A (n.*85C>A)
c.155C>A (p.Ala52Asp)
1g.244053929C>GCA345672252ZBTB18c.128C>G (p.Ala43Gly)
c.*85C>G (n.*85C>G)
c.155C>G (p.Ala52Gly)
1g.244053929C>TCA345672253ZBTB18c.128C>T (p.Ala43Val)
c.*85C>T (n.*85C>T)
c.155C>T (p.Ala52Val)
1g.244053930T>ACA424360656ZBTB18c.129T>A (p.Ala43=)
c.*86T>A (n.*86T>A)
c.156T>A (p.Ala52=)
1g.244053930T>CCA424360654ZBTB18c.129T>C (p.Ala43=)
c.*86T>C (n.*86T>C)
c.156T>C (p.Ala52=)
 dbSNP gnomAD v4
1g.244053930T>GCA424360655ZBTB18c.129T>G (p.Ala43=)
c.*86T>G (n.*86T>G)
c.156T>G (p.Ala52=)
1g.244053930T=CA1230659592ZBTB18c.129T= (p.Ala43=)
c.*86T= (n.*86T=)
c.156T= (p.Ala52=)
1g.244053931T>ACA345672254ZBTB18c.130T>A (p.Ser44Thr)
c.*87T>A (n.*87T>A)
c.157T>A (p.Ser53Thr)
1g.244053931T>CCA345672255ZBTB18c.130T>C (p.Ser44Pro)
c.*87T>C (n.*87T>C)
c.157T>C (p.Ser53Pro)
1g.244053931T>GCA345672256ZBTB18c.130T>G (p.Ser44Ala)
c.*87T>G (n.*87T>G)
c.157T>G (p.Ser53Ala)
1g.244053932C>ACA345672257ZBTB18c.131C>A (p.Ser44Ter)
c.*88C>A (n.*88C>A)
c.158C>A (p.Ser53Ter)
1g.244053932C>GCA345672258ZBTB18c.131C>G (p.Ser44Ter)
c.*88C>G (n.*88C>G)
c.158C>G (p.Ser53Ter)
1g.244053932C>TCA345672259ZBTB18c.131C>T (p.Ser44Leu)
c.*88C>T (n.*88C>T)
c.158C>T (p.Ser53Leu)
1g.244053933A=CA1141604995ZBTB18c.132A= (p.Ser44=)
c.*89A= (n.*89A=)
c.159A= (p.Ser53=)
1g.244053933A>CCA424360657ZBTB18c.132A>C (p.Ser44=)
c.*89A>C (n.*89A>C)
c.159A>C (p.Ser53=)
1g.244053933A>GCA1484271ZBTB18c.132A>G (p.Ser44=)
c.*89A>G (n.*89A>G)
c.159A>G (p.Ser53=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053933A>TCA424360658ZBTB18c.132A>T (p.Ser44=)
c.*89A>T (n.*89A>T)
c.159A>T (p.Ser53=)
1g.244053934T>ACA345672260ZBTB18c.133T>A (p.Cys45Ser)
c.*90T>A (n.*90T>A)
c.160T>A (p.Cys54Ser)
1g.244053934T>CCA353419ZBTB18c.133T>C (p.Cys45Arg)
c.*90T>C (n.*90T>C)
c.160T>C (p.Cys54Arg)
 ClinVar dbSNP
1g.244053934T>GCA345672261ZBTB18c.133T>G (p.Cys45Gly)
c.*90T>G (n.*90T>G)
c.160T>G (p.Cys54Gly)
1g.244053934T=CA1230659593ZBTB18c.133T= (p.Cys45=)
c.*90T= (n.*90T=)
c.160T= (p.Cys54=)
1g.244053935G>ACA345672262ZBTB18c.134G>A (p.Cys45Tyr)
c.*91G>A (n.*91G>A)
c.161G>A (p.Cys54Tyr)
1g.244053935G>CCA345672263ZBTB18c.134G>C (p.Cys45Ser)
c.*91G>C (n.*91G>C)
c.161G>C (p.Cys54Ser)
1g.244053935G>TCA345672264ZBTB18c.134G>T (p.Cys45Phe)
c.*91G>T (n.*91G>T)
c.161G>T (p.Cys54Phe)
1g.244053936C>ACA345672265ZBTB18c.135C>A (p.Cys45Ter)
c.*92C>A (n.*92C>A)
c.162C>A (p.Cys54Ter)
1g.244053936C=CA1230659594ZBTB18c.135C= (p.Cys45=)
c.*92C= (n.*92C=)
c.162C= (p.Cys54=)
1g.244053936C>GCA345672266ZBTB18c.135C>G (p.Cys45Trp)
c.*92C>G (n.*92C>G)
c.162C>G (p.Cys54Trp)
1g.244053936C>TCA424360659ZBTB18c.135C>T (p.Cys45=)
c.*92C>T (n.*92C>T)
c.162C>T (p.Cys54=)
 dbSNP gnomAD v3 gnomAD v4
1g.244053937A>CCA345672267ZBTB18c.136A>C (p.Ser46Arg)
c.*93A>C (n.*93A>C)
c.163A>C (p.Ser55Arg)
1g.244053937A>GCA345672268ZBTB18c.136A>G (p.Ser46Gly)
c.*93A>G (n.*93A>G)
c.163A>G (p.Ser55Gly)
1g.244053937A>TCA345672269ZBTB18c.136A>T (p.Ser46Cys)
c.*93A>T (n.*93A>T)
c.163A>T (p.Ser55Cys)
1g.244053938G>ACA345672270ZBTB18c.137G>A (p.Ser46Asn)
c.*94G>A (n.*94G>A)
c.164G>A (p.Ser55Asn)
1g.244053938G>CCA345672271ZBTB18c.137G>C (p.Ser46Thr)
c.*94G>C (n.*94G>C)
c.164G>C (p.Ser55Thr)
1g.244053938G>TCA345672272ZBTB18c.137G>T (p.Ser46Ile)
c.*94G>T (n.*94G>T)
c.164G>T (p.Ser55Ile)
1g.244053938_244053960delCA2513495836ZBTB18c.137_159del (p.Ser46LysfsTer27)
c.*94_*116del (n.*94_*116del)
c.164_186del (p.Ser55LysfsTer27)
1g.244053939C>ACA345672273ZBTB18c.138C>A (p.Ser46Arg)
c.*95C>A (n.*95C>A)
c.165C>A (p.Ser55Arg)
1g.244053939C>GCA345672274ZBTB18c.138C>G (p.Ser46Arg)
c.*95C>G (n.*95C>G)
c.165C>G (p.Ser55Arg)
1g.244053939C>TCA424360660ZBTB18c.138C>T (p.Ser46=)
c.*95C>T (n.*95C>T)
c.165C>T (p.Ser55=)
 gnomAD v4
1g.244053940A=CA1230659595ZBTB18c.139A= (p.Met47=)
c.*96A= (n.*96A=)
c.166A= (p.Met56=)
1g.244053940A>CCA345672275ZBTB18c.139A>C (p.Met47Leu)
c.*96A>C (n.*96A>C)
c.166A>C (p.Met56Leu)
1g.244053940A>GCA1484272ZBTB18c.139A>G (p.Met47Val)
c.*96A>G (n.*96A>G)
c.166A>G (p.Met56Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053940A>TCA345672276ZBTB18c.139A>T (p.Met47Leu)
c.*96A>T (n.*96A>T)
c.166A>T (p.Met56Leu)
1g.244053941T>ACA345672277ZBTB18c.140T>A (p.Met47Lys)
c.*97T>A (n.*97T>A)
c.167T>A (p.Met56Lys)
1g.244053941T>CCA1484273ZBTB18c.140T>C (p.Met47Thr)
c.*97T>C (n.*97T>C)
c.167T>C (p.Met56Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053941T>GCA345672278ZBTB18c.140T>G (p.Met47Arg)
c.*97T>G (n.*97T>G)
c.167T>G (p.Met56Arg)
1g.244053941T=CA1230659596ZBTB18c.140T= (p.Met47=)
c.*97T= (n.*97T=)
c.167T= (p.Met56=)
1g.244053942G>ACA345672279ZBTB18c.141G>A (p.Met47Ile)
c.*98G>A (n.*98G>A)
c.168G>A (p.Met56Ile)
1g.244053942G>CCA345672280ZBTB18c.141G>C (p.Met47Ile)
c.*98G>C (n.*98G>C)
c.168G>C (p.Met56Ile)
1g.244053942G>TCA345672281ZBTB18c.141G>T (p.Met47Ile)
c.*98G>T (n.*98G>T)
c.168G>T (p.Met56Ile)
1g.244053943T>ACA345672282ZBTB18c.142T>A (p.Tyr48Asn)
c.*99T>A (n.*99T>A)
c.169T>A (p.Tyr57Asn)
1g.244053943T>CCA345672283ZBTB18c.142T>C (p.Tyr48His)
c.*99T>C (n.*99T>C)
c.169T>C (p.Tyr57His)
1g.244053943T>GCA345672284ZBTB18c.142T>G (p.Tyr48Asp)
c.*99T>G (n.*99T>G)
c.169T>G (p.Tyr57Asp)
1g.244053944A>CCA345672286ZBTB18c.143A>C (p.Tyr48Ser)
c.*100A>C (n.*100A>C)
c.170A>C (p.Tyr57Ser)
1g.244053944A>GCA345672287ZBTB18c.143A>G (p.Tyr48Cys)
c.*100A>G (n.*100A>G)
c.170A>G (p.Tyr57Cys)
1g.244053944A>TCA345672285ZBTB18c.143A>T (p.Tyr48Phe)
c.*100A>T (n.*100A>T)
c.170A>T (p.Tyr57Phe)
 ClinVar gnomAD v4
1g.244053945T>ACA345672288ZBTB18c.144T>A (p.Tyr48Ter)
c.*101T>A (n.*101T>A)
c.171T>A (p.Tyr57Ter)
 ClinVar dbSNP
1g.244053945T>CCA424360661ZBTB18c.144T>C (p.Tyr48=)
c.*101T>C (n.*101T>C)
c.171T>C (p.Tyr57=)
1g.244053945T>GCA345672289ZBTB18c.144T>G (p.Tyr48Ter)
c.*101T>G (n.*101T>G)
c.171T>G (p.Tyr57Ter)
1g.244053945T=CA1230659597ZBTB18c.144T= (p.Tyr48=)
c.*101T= (n.*101T=)
c.171T= (p.Tyr57=)
1g.244053946T>ACA345672290ZBTB18c.145T>A (p.Phe49Ile)
c.*102T>A (n.*102T>A)
c.172T>A (p.Phe58Ile)
1g.244053946T>CCA345672291ZBTB18c.145T>C (p.Phe49Leu)
c.*102T>C (n.*102T>C)
c.172T>C (p.Phe58Leu)
1g.244053946T>GCA345672292ZBTB18c.145T>G (p.Phe49Val)
c.*102T>G (n.*102T>G)
c.172T>G (p.Phe58Val)
1g.244053947T>ACA345672295ZBTB18c.146T>A (p.Phe49Tyr)
c.*103T>A (n.*103T>A)
c.173T>A (p.Phe58Tyr)
1g.244053947T>CCA345672293ZBTB18c.146T>C (p.Phe49Ser)
c.*103T>C (n.*103T>C)
c.173T>C (p.Phe58Ser)
1g.244053947T>GCA345672294ZBTB18c.146T>G (p.Phe49Cys)
c.*103T>G (n.*103T>G)
c.173T>G (p.Phe58Cys)
1g.244053948C>ACA345672296ZBTB18c.147C>A (p.Phe49Leu)
c.*104C>A (n.*104C>A)
c.174C>A (p.Phe58Leu)
1g.244053948C=CA1230659598ZBTB18c.147C= (p.Phe49=)
c.*104C= (n.*104C=)
c.174C= (p.Phe58=)
1g.244053948C>GCA345672297ZBTB18c.147C>G (p.Phe49Leu)
c.*104C>G (n.*104C>G)
c.174C>G (p.Phe58Leu)
1g.244053948C>TCA424360662ZBTB18c.147C>T (p.Phe49=)
c.*104C>T (n.*104C>T)
c.174C>T (p.Phe58=)
 dbSNP
1g.244053949C>ACA345672298ZBTB18c.148C>A (p.His50Asn)
c.*105C>A (n.*105C>A)
c.175C>A (p.His59Asn)
1g.244053949C>GCA345672299ZBTB18c.148C>G (p.His50Asp)
c.*105C>G (n.*105C>G)
c.175C>G (p.His59Asp)
1g.244053949C>TCA345672300ZBTB18c.148C>T (p.His50Tyr)
c.*105C>T (n.*105C>T)
c.175C>T (p.His59Tyr)
1g.244053950A>CCA345672303ZBTB18c.149A>C (p.His50Pro)
c.*106A>C (n.*106A>C)
c.176A>C (p.His59Pro)
1g.244053950A>GCA345672302ZBTB18c.149A>G (p.His50Arg)
c.*106A>G (n.*106A>G)
c.176A>G (p.His59Arg)
1g.244053950A>TCA345672301ZBTB18c.149A>T (p.His50Leu)
c.*106A>T (n.*106A>T)
c.176A>T (p.His59Leu)
1g.244053951C>ACA345672304ZBTB18c.150C>A (p.His50Gln)
c.*107C>A (n.*107C>A)
c.177C>A (p.His59Gln)
1g.244053951C>GCA345672305ZBTB18c.150C>G (p.His50Gln)
c.*107C>G (n.*107C>G)
c.177C>G (p.His59Gln)
1g.244053951C>TCA424360663ZBTB18c.150C>T (p.His50=)
c.*107C>T (n.*107C>T)
c.177C>T (p.His59=)
 gnomAD v4
1g.244053952C>ACA41081497ZBTB18c.151C>A (p.Leu51Ile)
c.*108C>A (n.*108C>A)
c.178C>A (p.Leu60Ile)
 dbSNP
1g.244053952C=CA1140475405ZBTB18c.151C= (p.Leu51=)
c.*108C= (n.*108C=)
c.178C= (p.Leu60=)
1g.244053952C>GCA345672307ZBTB18c.151C>G (p.Leu51Val)
c.*108C>G (n.*108C>G)
c.178C>G (p.Leu60Val)
1g.244053952C>TCA345672306ZBTB18c.151C>T (p.Leu51Phe)
c.*108C>T (n.*108C>T)
c.178C>T (p.Leu60Phe)
1g.244053953T>ACA345672308ZBTB18c.152T>A (p.Leu51His)
c.*109T>A (n.*109T>A)
c.179T>A (p.Leu60His)
 gnomAD v4
1g.244053953T>CCA345672309ZBTB18c.152T>C (p.Leu51Pro)
c.*109T>C (n.*109T>C)
c.179T>C (p.Leu60Pro)
1g.244053953T>GCA345672310ZBTB18c.152T>G (p.Leu51Arg)
c.*109T>G (n.*109T>G)
c.179T>G (p.Leu60Arg)
1g.244053954C>ACA424360664ZBTB18c.153C>A (p.Leu51=)
c.*110C>A (n.*110C>A)
c.180C>A (p.Leu60=)
1g.244053954C>GCA424360665ZBTB18c.153C>G (p.Leu51=)
c.*110C>G (n.*110C>G)
c.180C>G (p.Leu60=)
1g.244053954C>TCA424360666ZBTB18c.153C>T (p.Leu51=)
c.*110C>T (n.*110C>T)
c.180C>T (p.Leu60=)
 gnomAD v4
1g.244053955T>ACA345672311ZBTB18c.154T>A (p.Phe52Ile)
c.*111T>A (n.*111T>A)
c.181T>A (p.Phe61Ile)
1g.244053955T>CCA345672312ZBTB18c.154T>C (p.Phe52Leu)
c.*111T>C (n.*111T>C)
c.181T>C (p.Phe61Leu)
1g.244053955T>GCA345672313ZBTB18c.154T>G (p.Phe52Val)
c.*111T>G (n.*111T>G)
c.181T>G (p.Phe61Val)
1g.244053956T>ACA345672314ZBTB18c.155T>A (p.Phe52Tyr)
c.*112T>A (n.*112T>A)
c.182T>A (p.Phe61Tyr)
1g.244053956T>CCA345672315ZBTB18c.155T>C (p.Phe52Ser)
c.*112T>C (n.*112T>C)
c.182T>C (p.Phe61Ser)
1g.244053956T>GCA345672316ZBTB18c.155T>G (p.Phe52Cys)
c.*112T>G (n.*112T>G)
c.182T>G (p.Phe61Cys)
1g.244053957T>ACA345672317ZBTB18c.156T>A (p.Phe52Leu)
c.*113T>A (n.*113T>A)
c.183T>A (p.Phe61Leu)
1g.244053957T>CCA424360667ZBTB18c.156T>C (p.Phe52=)
c.*113T>C (n.*113T>C)
c.183T>C (p.Phe61=)
1g.244053957T>GCA345672318ZBTB18c.156T>G (p.Phe52Leu)
c.*113T>G (n.*113T>G)
c.183T>G (p.Phe61Leu)
1g.244053958T>ACA345672321ZBTB18c.157T>A (p.Tyr53Asn)
c.*114T>A (n.*114T>A)
c.184T>A (p.Tyr62Asn)
1g.244053958T>CCA345672320ZBTB18c.157T>C (p.Tyr53His)
c.*114T>C (n.*114T>C)
c.184T>C (p.Tyr62His)
1g.244053958T>GCA345672319ZBTB18c.157T>G (p.Tyr53Asp)
c.*114T>G (n.*114T>G)
c.184T>G (p.Tyr62Asp)
1g.244053959A>CCA345672322ZBTB18c.158A>C (p.Tyr53Ser)
c.*115A>C (n.*115A>C)
c.185A>C (p.Tyr62Ser)
1g.244053959A>GCA345672323ZBTB18c.158A>G (p.Tyr53Cys)
c.*115A>G (n.*115A>G)
c.185A>G (p.Tyr62Cys)
1g.244053959A>TCA345672324ZBTB18c.158A>T (p.Tyr53Phe)
c.*115A>T (n.*115A>T)
c.185A>T (p.Tyr62Phe)
1g.244053960C>ACA345672325ZBTB18c.159C>A (p.Tyr53Ter)
c.*116C>A (n.*116C>A)
c.186C>A (p.Tyr62Ter)
1g.244053960C=CA1230659599ZBTB18c.159C= (p.Tyr53=)
c.*116C= (n.*116C=)
c.186C= (p.Tyr62=)
1g.244053960C>GCA345672326ZBTB18c.159C>G (p.Tyr53Ter)
c.*116C>G (n.*116C>G)
c.186C>G (p.Tyr62Ter)
1g.244053960C>TCA1484274ZBTB18c.159C>T (p.Tyr53=)
c.*116C>T (n.*116C>T)
c.186C>T (p.Tyr62=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244053961A>CCA345672327ZBTB18c.160A>C (p.Lys54Gln)
c.*117A>C (n.*117A>C)
c.187A>C (p.Lys63Gln)
1g.244053961A>GCA345672328ZBTB18c.160A>G (p.Lys54Glu)
c.*117A>G (n.*117A>G)
c.187A>G (p.Lys63Glu)
1g.244053961A>TCA345672329ZBTB18c.160A>T (p.Lys54Ter)
c.*117A>T (n.*117A>T)
c.187A>T (p.Lys63Ter)
1g.244053962A>CCA345672330ZBTB18c.161A>C (p.Lys54Thr)
c.*118A>C (n.*118A>C)
c.188A>C (p.Lys63Thr)
1g.244053962A>GCA345672331ZBTB18c.161A>G (p.Lys54Arg)
c.*118A>G (n.*118A>G)
c.188A>G (p.Lys63Arg)
1g.244053962A>TCA345672332ZBTB18c.161A>T (p.Lys54Met)
c.*118A>T (n.*118A>T)
c.188A>T (p.Lys63Met)
1g.244053963G>ACA424360668ZBTB18c.162G>A (p.Lys54=)
c.*119G>A (n.*119G>A)
c.189G>A (p.Lys63=)
1g.244053963G>CCA345672334ZBTB18c.162G>C (p.Lys54Asn)
c.*119G>C (n.*119G>C)
c.189G>C (p.Lys63Asn)
1g.244053963G>TCA345672333ZBTB18c.162G>T (p.Lys54Asn)
c.*119G>T (n.*119G>T)
c.189G>T (p.Lys63Asn)
1g.244053964G>ACA345672335ZBTB18c.163G>A (p.Asp55Asn)
c.*120G>A (n.*120G>A)
c.190G>A (p.Asp64Asn)
 COSMIC
1g.244053964G>CCA345672336ZBTB18c.163G>C (p.Asp55His)
c.*120G>C (n.*120G>C)
c.190G>C (p.Asp64His)
1g.244053964G>TCA345672337ZBTB18c.163G>T (p.Asp55Tyr)
c.*120G>T (n.*120G>T)
c.190G>T (p.Asp64Tyr)
1g.244053965A>CCA345672338ZBTB18c.164A>C (p.Asp55Ala)
c.*121A>C (n.*121A>C)
c.191A>C (p.Asp64Ala)
1g.244053965A>GCA345672339ZBTB18c.164A>G (p.Asp55Gly)
c.*121A>G (n.*121A>G)
c.191A>G (p.Asp64Gly)
1g.244053965A>TCA345672340ZBTB18c.164A>T (p.Asp55Val)
c.*121A>T (n.*121A>T)
c.191A>T (p.Asp64Val)
1g.244053966C>ACA345672341ZBTB18c.165C>A (p.Asp55Glu)
c.*122C>A (n.*122C>A)
c.192C>A (p.Asp64Glu)
1g.244053966C=CA1230659600ZBTB18c.165C= (p.Asp55=)
c.*122C= (n.*122C=)
c.192C= (p.Asp64=)
1g.244053966C>GCA345672342ZBTB18c.165C>G (p.Asp55Glu)
c.*122C>G (n.*122C>G)
c.192C>G (p.Asp64Glu)
1g.244053966C>TCA424360669ZBTB18c.165C>T (p.Asp55=)
c.*122C>T (n.*122C>T)
c.192C>T (p.Asp64=)
 dbSNP gnomAD v4
1g.244053967C>ACA345672343ZBTB18c.166C>A (p.Gln56Lys)
c.*123C>A (n.*123C>A)
c.193C>A (p.Gln65Lys)
1g.244053967C>GCA345672344ZBTB18c.166C>G (p.Gln56Glu)
c.*123C>G (n.*123C>G)
c.193C>G (p.Gln65Glu)
1g.244053967C>TCA345672345ZBTB18c.166C>T (p.Gln56Ter)
c.*123C>T (n.*123C>T)
c.193C>T (p.Gln65Ter)
1g.244053968A=CA1230659601ZBTB18c.167A= (p.Gln56=)
c.*124A= (n.*124A=)
c.194A= (p.Gln65=)
1g.244053968A>CCA345672346ZBTB18c.167A>C (p.Gln56Pro)
c.*124A>C (n.*124A>C)
c.194A>C (p.Gln65Pro)
1g.244053968A>GCA345672347ZBTB18c.167A>G (p.Gln56Arg)
c.*124A>G (n.*124A>G)
c.194A>G (p.Gln65Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244053968A>TCA345672348ZBTB18c.167A>T (p.Gln56Leu)
c.*124A>T (n.*124A>T)
c.194A>T (p.Gln65Leu)
1g.244053969G>ACA424360670ZBTB18c.168G>A (p.Gln56=)
c.*125G>A (n.*125G>A)
c.195G>A (p.Gln65=)
1g.244053969G>CCA1484275ZBTB18c.168G>C (p.Gln56His)
c.*125G>C (n.*125G>C)
c.195G>C (p.Gln65His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053969G=CA1146235486ZBTB18c.168G= (p.Gln56=)
c.*125G= (n.*125G=)
c.195G= (p.Gln65=)
1g.244053969G>TCA345672349ZBTB18c.168G>T (p.Gln56His)
c.*125G>T (n.*125G>T)
c.195G>T (p.Gln65His)
1g.244053970C>ACA345672350ZBTB18c.169C>A (p.Leu57Met)
c.*126C>A (n.*126C>A)
c.196C>A (p.Leu66Met)
1g.244053970C>GCA345672351ZBTB18c.169C>G (p.Leu57Val)
c.*126C>G (n.*126C>G)
c.196C>G (p.Leu66Val)
1g.244053970C>TCA424360671ZBTB18c.169C>T (p.Leu57=)
c.*126C>T (n.*126C>T)
c.196C>T (p.Leu66=)
1g.244053971T>ACA345672352ZBTB18c.170T>A (p.Leu57Gln)
c.*127T>A (n.*127T>A)
c.197T>A (p.Leu66Gln)
1g.244053971T>CCA345672353ZBTB18c.170T>C (p.Leu57Pro)
c.*127T>C (n.*127T>C)
c.197T>C (p.Leu66Pro)
 gnomAD v4
1g.244053971T>GCA345672354ZBTB18c.170T>G (p.Leu57Arg)
c.*127T>G (n.*127T>G)
c.197T>G (p.Leu66Arg)
1g.244053972G>ACA41081498ZBTB18c.171G>A (p.Leu57=)
c.*128G>A (n.*128G>A)
c.198G>A (p.Leu66=)
 dbSNP
1g.244053972G>CCA424360673ZBTB18c.171G>C (p.Leu57=)
c.*128G>C (n.*128G>C)
c.198G>C (p.Leu66=)
1g.244053972G=CA1230659602ZBTB18c.171G= (p.Leu57=)
c.*128G= (n.*128G=)
c.198G= (p.Leu66=)
1g.244053972G>TCA424360672ZBTB18c.171G>T (p.Leu57=)
c.*128G>T (n.*128G>T)
c.198G>T (p.Leu66=)
1g.244053973G>ACA345672355ZBTB18c.172G>A (p.Asp58Asn)
c.*129G>A (n.*129G>A)
c.199G>A (p.Asp67Asn)
1g.244053973G>CCA345672356ZBTB18c.172G>C (p.Asp58His)
c.*129G>C (n.*129G>C)
c.199G>C (p.Asp67His)
1g.244053973G>TCA345672357ZBTB18c.172G>T (p.Asp58Tyr)
c.*129G>T (n.*129G>T)
c.199G>T (p.Asp67Tyr)
1g.244053974A>CCA345672358ZBTB18c.173A>C (p.Asp58Ala)
c.*130A>C (n.*130A>C)
c.200A>C (p.Asp67Ala)
1g.244053974A>GCA345672359ZBTB18c.173A>G (p.Asp58Gly)
c.*130A>G (n.*130A>G)
c.200A>G (p.Asp67Gly)
 gnomAD v4
1g.244053974A>TCA345672360ZBTB18c.173A>T (p.Asp58Val)
c.*130A>T (n.*130A>T)
c.200A>T (p.Asp67Val)
1g.244053975C>ACA345672361ZBTB18c.174C>A (p.Asp58Glu)
c.*131C>A (n.*131C>A)
c.201C>A (p.Asp67Glu)
1g.244053975C=CA1230659603ZBTB18c.174C= (p.Asp58=)
c.*131C= (n.*131C=)
c.201C= (p.Asp67=)
1g.244053975C>GCA345672362ZBTB18c.174C>G (p.Asp58Glu)
c.*131C>G (n.*131C>G)
c.201C>G (p.Asp67Glu)
1g.244053975C>TCA424360674ZBTB18c.174C>T (p.Asp58=)
c.*131C>T (n.*131C>T)
c.201C>T (p.Asp67=)
 dbSNP gnomAD v3 gnomAD v4
1g.244053976A>CCA345672365ZBTB18c.175A>C (p.Lys59Gln)
c.*132A>C (n.*132A>C)
c.202A>C (p.Lys68Gln)
1g.244053976A>GCA345672364ZBTB18c.175A>G (p.Lys59Glu)
c.*132A>G (n.*132A>G)
c.202A>G (p.Lys68Glu)
1g.244053976A>TCA345672363ZBTB18c.175A>T (p.Lys59Ter)
c.*132A>T (n.*132A>T)
c.202A>T (p.Lys68Ter)
1g.244053978_244053979delCA2573106188ZBTB18c.177_178del (p.Asp61HisfsTer19)
c.*134_*135del (n.*134_*135del)
c.204_205del (p.Asp70HisfsTer19)
 ClinVar
1g.244053977A=CA1230659604ZBTB18c.176A= (p.Lys59=)
c.*133A= (n.*133A=)
c.203A= (p.Lys68=)
1g.244053977A>CCA345672366ZBTB18c.176A>C (p.Lys59Thr)
c.*133A>C (n.*133A>C)
c.203A>C (p.Lys68Thr)
1g.244053977A>GCA1484276ZBTB18c.176A>G (p.Lys59Arg)
c.*133A>G (n.*133A>G)
c.203A>G (p.Lys68Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053977A>TCA345672367ZBTB18c.176A>T (p.Lys59Ile)
c.*133A>T (n.*133A>T)
c.203A>T (p.Lys68Ile)
1g.244053978A>CCA345672368ZBTB18c.177A>C (p.Lys59Asn)
c.*134A>C (n.*134A>C)
c.204A>C (p.Lys68Asn)
1g.244053978A>GCA424360675ZBTB18c.177A>G (p.Lys59=)
c.*134A>G (n.*134A>G)
c.204A>G (p.Lys68=)
1g.244053978A>TCA345672369ZBTB18c.177A>T (p.Lys59Asn)
c.*134A>T (n.*134A>T)
c.204A>T (p.Lys68Asn)
1g.244053979A>CCA424360676ZBTB18c.178A>C (p.Arg60=)
c.*135A>C (n.*135A>C)
c.205A>C (p.Arg69=)
1g.244053979A>GCA345672370ZBTB18c.178A>G (p.Arg60Gly)
c.*135A>G (n.*135A>G)
c.205A>G (p.Arg69Gly)
1g.244053979A>TCA345672371ZBTB18c.178A>T (p.Arg60Ter)
c.*135A>T (n.*135A>T)
c.205A>T (p.Arg69Ter)
1g.244053980G>ACA345672374ZBTB18c.179G>A (p.Arg60Lys)
c.*136G>A (n.*136G>A)
c.206G>A (p.Arg69Lys)
1g.244053980G>CCA345672372ZBTB18c.179G>C (p.Arg60Thr)
c.*136G>C (n.*136G>C)
c.206G>C (p.Arg69Thr)
1g.244053980G>TCA345672373ZBTB18c.179G>T (p.Arg60Ile)
c.*136G>T (n.*136G>T)
c.206G>T (p.Arg69Ile)
1g.244053981A=CA1230659605ZBTB18c.180A= (p.Arg60=)
c.*137A= (n.*137A=)
c.207A= (p.Arg69=)
1g.244053981A>CCA345672375ZBTB18c.180A>C (p.Arg60Ser)
c.*137A>C (n.*137A>C)
c.207A>C (p.Arg69Ser)
1g.244053981A>GCA424360677ZBTB18c.180A>G (p.Arg60=)
c.*137A>G (n.*137A>G)
c.207A>G (p.Arg69=)
1g.244053981A>TCA345672376ZBTB18c.180A>T (p.Arg60Ser)
c.*137A>T (n.*137A>T)
c.207A>T (p.Arg69Ser)
1g.244053982G>ACA1484277ZBTB18c.181G>A (p.Asp61Asn)
c.*138G>A (n.*138G>A)
c.208G>A (p.Asp70Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053982G>CCA1484278ZBTB18c.181G>C (p.Asp61His)
c.*138G>C (n.*138G>C)
c.208G>C (p.Asp70His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244053982G=CA1143955508ZBTB18c.181G= (p.Asp61=)
c.*138G= (n.*138G=)
c.208G= (p.Asp70=)
1g.244053982G>TCA345672377ZBTB18c.181G>T (p.Asp61Tyr)
c.*138G>T (n.*138G>T)
c.208G>T (p.Asp70Tyr)
1g.244053991_244054011dupCA1014214458ZBTB18c.190_210dup (p.Val70_Thr71insHisLeuAsnSerAspIleVal)
c.*147_*167dup (n.*147_*167dup)
c.217_237dup (p.Val79_Thr80insHisLeuAsnSerAspIleVal)
 dbSNP gnomAD v3 gnomAD v4
1g.244053983A>CCA345672378ZBTB18c.182A>C (p.Asp61Ala)
c.*139A>C (n.*139A>C)
c.209A>C (p.Asp70Ala)
1g.244053983A>GCA345672380ZBTB18c.182A>G (p.Asp61Gly)
c.*139A>G (n.*139A>G)
c.209A>G (p.Asp70Gly)
1g.244053983A>TCA345672379ZBTB18c.182A>T (p.Asp61Val)
c.*139A>T (n.*139A>T)
c.209A>T (p.Asp70Val)
1g.244053984C>ACA345672381ZBTB18c.183C>A (p.Asp61Glu)
c.*140C>A (n.*140C>A)
c.210C>A (p.Asp70Glu)
1g.244053984C=CA1230659606ZBTB18c.183C= (p.Asp61=)
c.*140C= (n.*140C=)
c.210C= (p.Asp70=)
1g.244053984C>GCA345672382ZBTB18c.183C>G (p.Asp61Glu)
c.*140C>G (n.*140C>G)
c.210C>G (p.Asp70Glu)
1g.244053984C>TCA424360678ZBTB18c.183C>T (p.Asp61=)
c.*140C>T (n.*140C>T)
c.210C>T (p.Asp70=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.244053985A>CCA345672383ZBTB18c.184A>C (p.Ile62Leu)
c.*141A>C (n.*141A>C)
c.211A>C (p.Ile71Leu)
1g.244053985A>GCA345672384ZBTB18c.184A>G (p.Ile62Val)
c.*141A>G (n.*141A>G)
c.211A>G (p.Ile71Val)
1g.244053985A>TCA345672385ZBTB18c.184A>T (p.Ile62Phe)
c.*141A>T (n.*141A>T)
c.211A>T (p.Ile71Phe)
1g.244053985_244053986insATGCA2651317663ZBTB18c.184_185insATG (p.Ile62delinsAsnVal)
c.*141_*142insATG (n.*141_*142insATG)
c.211_212insATG (p.Ile71delinsAsnVal)
 gnomAD v4
1g.244053986T>ACA345672386ZBTB18c.185T>A (p.Ile62Asn)
c.*142T>A (n.*142T>A)
c.212T>A (p.Ile71Asn)
1g.244053986T>CCA345672387ZBTB18c.185T>C (p.Ile62Thr)
c.*142T>C (n.*142T>C)
c.212T>C (p.Ile71Thr)
 gnomAD v4
1g.244053986T>GCA345672388ZBTB18c.185T>G (p.Ile62Ser)
c.*142T>G (n.*142T>G)
c.212T>G (p.Ile71Ser)
1g.244053987T>ACA424360679ZBTB18c.186T>A (p.Ile62=)
c.*143T>A (n.*143T>A)
c.213T>A (p.Ile71=)
1g.244053987T>CCA424360680ZBTB18c.186T>C (p.Ile62=)
c.*143T>C (n.*143T>C)
c.213T>C (p.Ile71=)
 gnomAD v4
1g.244053987T>GCA345672389ZBTB18c.186T>G (p.Ile62Met)
c.*143T>G (n.*143T>G)
c.213T>G (p.Ile71Met)
1g.244053988G>ACA345672390ZBTB18c.187G>A (p.Val63Ile)
c.*144G>A (n.*144G>A)
c.214G>A (p.Val72Ile)
1g.244053988G>CCA345672391ZBTB18c.187G>C (p.Val63Leu)
c.*144G>C (n.*144G>C)
c.214G>C (p.Val72Leu)
1g.244053988G>TCA345672392ZBTB18c.187G>T (p.Val63Phe)
c.*144G>T (n.*144G>T)
c.214G>T (p.Val72Phe)
1g.244053989T>ACA345672393ZBTB18c.188T>A (p.Val63Asp)
c.*145T>A (n.*145T>A)
c.215T>A (p.Val72Asp)
1g.244053989T>CCA345672395ZBTB18c.188T>C (p.Val63Ala)
c.*145T>C (n.*145T>C)
c.215T>C (p.Val72Ala)
1g.244053989T>GCA345672394ZBTB18c.188T>G (p.Val63Gly)
c.*145T>G (n.*145T>G)
c.215T>G (p.Val72Gly)
1g.244053990T>ACA424360681ZBTB18c.189T>A (p.Val63=)
c.*146T>A (n.*146T>A)
c.216T>A (p.Val72=)
1g.244053990T>CCA424360682ZBTB18c.189T>C (p.Val63=)
c.*146T>C (n.*146T>C)
c.216T>C (p.Val72=)
1g.244053990T>GCA424360683ZBTB18c.189T>G (p.Val63=)
c.*146T>G (n.*146T>G)
c.216T>G (p.Val72=)
1g.244053991C>ACA345672396ZBTB18c.190C>A (p.His64Asn)
c.*147C>A (n.*147C>A)
c.217C>A (p.His73Asn)
1g.244053991C=CA1230659607ZBTB18c.190C= (p.His64=)
c.*147C= (n.*147C=)
c.217C= (p.His73=)
1g.244053991C>GCA345672397ZBTB18c.190C>G (p.His64Asp)
c.*147C>G (n.*147C>G)
c.217C>G (p.His73Asp)
 ClinVar
1g.244053991C>TCA41081499ZBTB18c.190C>T (p.His64Tyr)
c.*147C>T (n.*147C>T)
c.217C>T (p.His73Tyr)
 dbSNP gnomAD v4 COSMIC
1g.244053992A=CA1230659608ZBTB18c.191A= (p.His64=)
c.*148A= (n.*148A=)
c.218A= (p.His73=)
1g.244053992A>CCA345672398ZBTB18c.191A>C (p.His64Pro)
c.*148A>C (n.*148A>C)
c.218A>C (p.His73Pro)
1g.244053992A>GCA345672399ZBTB18c.191A>G (p.His64Arg)
c.*148A>G (n.*148A>G)
c.218A>G (p.His73Arg)
 gnomAD v4
1g.244053992A>TCA345672400ZBTB18c.191A>T (p.His64Leu)
c.*148A>T (n.*148A>T)
c.218A>T (p.His73Leu)
 dbSNP
1g.244053993T>ACA345672401ZBTB18c.192T>A (p.His64Gln)
c.*149T>A (n.*149T>A)
c.219T>A (p.His73Gln)
1g.244053993T>CCA424360684ZBTB18c.192T>C (p.His64=)
c.*149T>C (n.*149T>C)
c.219T>C (p.His73=)
 gnomAD v4
1g.244053993T>GCA345672402ZBTB18c.192T>G (p.His64Gln)
c.*149T>G (n.*149T>G)
c.219T>G (p.His73Gln)
 gnomAD v4
1g.244053994C>ACA345672403ZBTB18c.193C>A (p.Leu65Met)
c.*150C>A (n.*150C>A)
c.220C>A (p.Leu74Met)
 COSMIC COSMIC
1g.244053994C>GCA345672404ZBTB18c.193C>G (p.Leu65Val)
c.*150C>G (n.*150C>G)
c.220C>G (p.Leu74Val)
1g.244053994C>TCA424360685ZBTB18c.193C>T (p.Leu65=)
c.*150C>T (n.*150C>T)
c.220C>T (p.Leu74=)
1g.244053995T>ACA345672405ZBTB18c.194T>A (p.Leu65Gln)
c.*151T>A (n.*151T>A)
c.221T>A (p.Leu74Gln)
1g.244053995T>CCA345672406ZBTB18c.194T>C (p.Leu65Pro)
c.*151T>C (n.*151T>C)
c.221T>C (p.Leu74Pro)
1g.244053995T>GCA345672407ZBTB18c.194T>G (p.Leu65Arg)
c.*151T>G (n.*151T>G)
c.221T>G (p.Leu74Arg)
1g.244053996G>ACA424360686ZBTB18c.195G>A (p.Leu65=)
c.*152G>A (n.*152G>A)
c.222G>A (p.Leu74=)
1g.244053996G>CCA424360687ZBTB18c.195G>C (p.Leu65=)
c.*152G>C (n.*152G>C)
c.222G>C (p.Leu74=)
 dbSNP
1g.244053996G=CA1230659609ZBTB18c.195G= (p.Leu65=)
c.*152G= (n.*152G=)
c.222G= (p.Leu74=)
1g.244053996G>TCA424360688ZBTB18c.195G>T (p.Leu65=)
c.*152G>T (n.*152G>T)
c.222G>T (p.Leu74=)
 dbSNP gnomAD v2 gnomAD v4
1g.244053997A>CCA345672410ZBTB18c.196A>C (p.Asn66His)
c.*153A>C (n.*153A>C)
c.223A>C (p.Asn75His)
1g.244053997A>GCA345672408ZBTB18c.196A>G (p.Asn66Asp)
c.*153A>G (n.*153A>G)
c.223A>G (p.Asn75Asp)
1g.244053997A>TCA345672409ZBTB18c.196A>T (p.Asn66Tyr)
c.*153A>T (n.*153A>T)
c.223A>T (p.Asn75Tyr)
1g.244053998A>CCA345672411ZBTB18c.197A>C (p.Asn66Thr)
c.*154A>C (n.*154A>C)
c.224A>C (p.Asn75Thr)
1g.244053998A>GCA345672412ZBTB18c.197A>G (p.Asn66Ser)
c.*154A>G (n.*154A>G)
c.224A>G (p.Asn75Ser)
 gnomAD v4
1g.244053998A>TCA345672413ZBTB18c.197A>T (p.Asn66Ile)
c.*154A>T (n.*154A>T)
c.224A>T (p.Asn75Ile)
1g.244053999C>ACA345672414ZBTB18c.198C>A (p.Asn66Lys)
c.*155C>A (n.*155C>A)
c.225C>A (p.Asn75Lys)
1g.244053999C>GCA345672415ZBTB18c.198C>G (p.Asn66Lys)
c.*155C>G (n.*155C>G)
c.225C>G (p.Asn75Lys)
1g.244053999C>TCA424360689ZBTB18c.198C>T (p.Asn66=)
c.*155C>T (n.*155C>T)
c.225C>T (p.Asn75=)
1g.244054000A=CA1230659610ZBTB18c.199A= (p.Ser67=)
c.*156A= (n.*156A=)
c.226A= (p.Ser76=)
1g.244054000A>CCA41081500ZBTB18c.199A>C (p.Ser67Arg)
c.*156A>C (n.*156A>C)
c.226A>C (p.Ser76Arg)
 dbSNP
1g.244054000A>GCA345672416ZBTB18c.199A>G (p.Ser67Gly)
c.*156A>G (n.*156A>G)
c.226A>G (p.Ser76Gly)
 dbSNP
1g.244054000A>TCA345672417ZBTB18c.199A>T (p.Ser67Cys)
c.*156A>T (n.*156A>T)
c.226A>T (p.Ser76Cys)
1g.244054001G>ACA345672418ZBTB18c.200G>A (p.Ser67Asn)
c.*157G>A (n.*157G>A)
c.227G>A (p.Ser76Asn)
1g.244054001G>CCA345672419ZBTB18c.200G>C (p.Ser67Thr)
c.*157G>C (n.*157G>C)
c.227G>C (p.Ser76Thr)
1g.244054001G>TCA345672420ZBTB18c.200G>T (p.Ser67Ile)
c.*157G>T (n.*157G>T)
c.227G>T (p.Ser76Ile)
1g.244054002C>ACA345672421ZBTB18c.201C>A (p.Ser67Arg)
c.*158C>A (n.*158C>A)
c.228C>A (p.Ser76Arg)
1g.244054002C=CA1143534542ZBTB18c.201C= (p.Ser67=)
c.*158C= (n.*158C=)
c.228C= (p.Ser76=)
1g.244054002C>GCA345672422ZBTB18c.201C>G (p.Ser67Arg)
c.*158C>G (n.*158C>G)
c.228C>G (p.Ser76Arg)
 gnomAD v4
1g.244054002C>TCA1484279ZBTB18c.201C>T (p.Ser67=)
c.*158C>T (n.*158C>T)
c.228C>T (p.Ser76=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.244054003G>ACA345672423ZBTB18c.202G>A (p.Asp68Asn)
c.*159G>A (n.*159G>A)
c.229G>A (p.Asp77Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.244054003G>CCA345672425ZBTB18c.202G>C (p.Asp68His)
c.*159G>C (n.*159G>C)
c.229G>C (p.Asp77His)
1g.244054003G=CA1230659611ZBTB18c.202G= (p.Asp68=)
c.*159G= (n.*159G=)
c.229G= (p.Asp77=)
1g.244054003G>TCA345672424ZBTB18c.202G>T (p.Asp68Tyr)
c.*159G>T (n.*159G>T)
c.229G>T (p.Asp77Tyr)
1g.244054004A>CCA345672426ZBTB18c.203A>C (p.Asp68Ala)
c.*160A>C (n.*160A>C)
c.230A>C (p.Asp77Ala)
1g.244054004A>GCA345672428ZBTB18c.203A>G (p.Asp68Gly)
c.*160A>G (n.*160A>G)
c.230A>G (p.Asp77Gly)
1g.244054004A>TCA345672427ZBTB18c.203A>T (p.Asp68Val)
c.*160A>T (n.*160A>T)
c.230A>T (p.Asp77Val)
1g.244054005C>ACA345672429ZBTB18c.204C>A (p.Asp68Glu)
c.*161C>A (n.*161C>A)
c.231C>A (p.Asp77Glu)
1g.244054005C>GCA345672430ZBTB18c.204C>G (p.Asp68Glu)
c.*161C>G (n.*161C>G)
c.231C>G (p.Asp77Glu)
1g.244054005C>TCA424360690ZBTB18c.204C>T (p.Asp68=)
c.*161C>T (n.*161C>T)
c.231C>T (p.Asp77=)
1g.244054006A=CA1230659612ZBTB18c.205A= (p.Ile69=)
c.*162A= (n.*162A=)
c.232A= (p.Ile78=)
1g.244054006A>CCA345672431ZBTB18c.205A>C (p.Ile69Leu)
c.*162A>C (n.*162A>C)
c.232A>C (p.Ile78Leu)
1g.244054006A>GCA345672433ZBTB18c.205A>G (p.Ile69Val)
c.*162A>G (n.*162A>G)
c.232A>G (p.Ile78Val)
 dbSNP
1g.244054006A>TCA345672432ZBTB18c.205A>T (p.Ile69Phe)
c.*162A>T (n.*162A>T)
c.232A>T (p.Ile78Phe)
1g.244054007T>ACA345672434ZBTB18c.206T>A (p.Ile69Asn)
c.*163T>A (n.*163T>A)
c.233T>A (p.Ile78Asn)
1g.244054007T>CCA345672436ZBTB18c.206T>C (p.Ile69Thr)
c.*163T>C (n.*163T>C)
c.233T>C (p.Ile78Thr)
1g.244054007T>GCA345672435ZBTB18c.206T>G (p.Ile69Ser)
c.*163T>G (n.*163T>G)
c.233T>G (p.Ile78Ser)
1g.244054008T>ACA424360691ZBTB18c.207T>A (p.Ile69=)
c.*164T>A (n.*164T>A)
c.234T>A (p.Ile78=)
1g.244054008T>CCA424360692ZBTB18c.207T>C (p.Ile69=)
c.*164T>C (n.*164T>C)
c.234T>C (p.Ile78=)
 dbSNP gnomAD v2 gnomAD v4
1g.244054008T>GCA345672437ZBTB18c.207T>G (p.Ile69Met)
c.*164T>G (n.*164T>G)
c.234T>G (p.Ile78Met)
1g.244054008T=CA1230659613ZBTB18c.207T= (p.Ile69=)
c.*164T= (n.*164T=)
c.234T= (p.Ile78=)
1g.244054009G>ACA345672438ZBTB18c.208G>A (p.Val70Ile)
c.*165G>A (n.*165G>A)
c.235G>A (p.Val79Ile)
1g.244054009G>CCA345672439ZBTB18c.208G>C (p.Val70Leu)
c.*165G>C (n.*165G>C)
c.235G>C (p.Val79Leu)
1g.244054009G>TCA345672440ZBTB18c.208G>T (p.Val70Phe)
c.*165G>T (n.*165G>T)
c.235G>T (p.Val79Phe)
1g.244054010T>ACA345672441ZBTB18c.209T>A (p.Val70Asp)
c.*166T>A (n.*166T>A)
c.236T>A (p.Val79Asp)
1g.244054010T>CCA345672442ZBTB18c.209T>C (p.Val70Ala)
c.*166T>C (n.*166T>C)
c.236T>C (p.Val79Ala)
1g.244054010T>GCA345672443ZBTB18c.209T>G (p.Val70Gly)
c.*166T>G (n.*166T>G)
c.236T>G (p.Val79Gly)
1g.244054011T>ACA424360693ZBTB18c.210T>A (p.Val70=)
c.*167T>A (n.*167T>A)
c.237T>A (p.Val79=)
1g.244054011T>CCA424360694ZBTB18c.210T>C (p.Val70=)
c.*167T>C (n.*167T>C)
c.237T>C (p.Val79=)
1g.244054011T>GCA424360695ZBTB18c.210T>G (p.Val70=)
c.*167T>G (n.*167T>G)
c.237T>G (p.Val79=)
 COSMIC COSMIC
1g.244054012A=CA1230659614ZBTB18c.211A= (p.Thr71=)
c.*168A= (n.*168A=)
c.238A= (p.Thr80=)
1g.244054012A>CCA345672444ZBTB18c.211A>C (p.Thr71Pro)
c.*168A>C (n.*168A>C)
c.238A>C (p.Thr80Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.244054012A>GCA345672445ZBTB18c.211A>G (p.Thr71Ala)
c.*168A>G (n.*168A>G)
c.238A>G (p.Thr80Ala)
1g.244054012A>TCA345672446ZBTB18c.211A>T (p.Thr71Ser)
c.*168A>T (n.*168A>T)
c.238A>T (p.Thr80Ser)
1g.244054013C>ACA345672449ZBTB18c.212C>A (p.Thr71Lys)
c.*169C>A (n.*169C>A)
c.239C>A (p.Thr80Lys)
1g.244054013C=CA1230659615ZBTB18c.212C= (p.Thr71=)
c.*169C= (n.*169C=)
c.239C= (p.Thr80=)
1g.244054013C>GCA345672448ZBTB18c.212C>G (p.Thr71Arg)
c.*169C>G (n.*169C>G)
c.239C>G (p.Thr80Arg)
 dbSNP
1g.244054013C>TCA345672447ZBTB18c.212C>T (p.Thr71Ile)
c.*169C>T (n.*169C>T)
c.239C>T (p.Thr80Ile)
1g.244054014A=CA1230659616ZBTB18c.213A= (p.Thr71=)
c.*170A= (n.*170A=)
c.240A= (p.Thr80=)
1g.244054014A>CCA424360698ZBTB18c.213A>C (p.Thr71=)
c.*170A>C (n.*170A>C)
c.240A>C (p.Thr80=)
1g.244054014A>GCA424360696ZBTB18c.213A>G (p.Thr71=)
c.*170A>G (n.*170A>G)
c.240A>G (p.Thr80=)
 dbSNP gnomAD v3 gnomAD v4
1g.244054014A>TCA424360697ZBTB18c.213A>T (p.Thr71=)
c.*170A>T (n.*170A>T)
c.240A>T (p.Thr80=)
1g.244054015G>ACA345672450ZBTB18c.214G>A (p.Ala72Thr)
c.*171G>A (n.*171G>A)
c.241G>A (p.Ala81Thr)
1g.244054015G>CCA345672451ZBTB18c.214G>C (p.Ala72Pro)
c.*171G>C (n.*171G>C)
c.241G>C (p.Ala81Pro)
1g.244054015G=CA1230659617ZBTB18c.214G= (p.Ala72=)
c.*171G= (n.*171G=)
c.241G= (p.Ala81=)
1g.244054015G>TCA345672452ZBTB18c.214G>T (p.Ala72Ser)
c.*171G>T (n.*171G>T)
c.241G>T (p.Ala81Ser)
1g.244054016C>ACA345672453ZBTB18c.215C>A (p.Ala72Asp)
c.*172C>A (n.*172C>A)
c.242C>A (p.Ala81Asp)
1g.244054016C>GCA345672454ZBTB18c.215C>G (p.Ala72Gly)
c.*172C>G (n.*172C>G)
c.242C>G (p.Ala81Gly)
 gnomAD v4
1g.244054016C>TCA345672455ZBTB18c.215C>T (p.Ala72Val)
c.*172C>T (n.*172C>T)
c.242C>T (p.Ala81Val)
 gnomAD v4
1g.244054020dupCA1139656729ZBTB18c.219dup (p.Ala74ArgfsTer7)
c.*176dup (n.*176dup)
c.246dup (p.Ala83ArgfsTer7)
 ClinVar dbSNP
1g.244054018_244054020dupCA1139656730ZBTB18c.217_219dup (p.Pro73_Ala74insPro)
c.*174_*176dup (n.*174_*176dup)
c.244_246dup (p.Pro82_Ala83insPro)
 ClinVar

Number of alleles fetched