Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.244054372_244054373delinsTCCA1230659715ZBTB18c.571_572delinsTC (p.Ser191=)
c.*528_*529delinsTC (n.*528_*529delinsTC)
c.598_599delinsTC (p.Ser200=)
1g.244054373delCA16609388ZBTB18c.572del (p.Ser191Ter)
c.*529del (n.*529del)
c.599del (p.Ser200Ter)
 ClinVar dbSNP
1g.244054373C>ACA345673282ZBTB18c.572C>A (p.Ser191Ter)
c.*529C>A (n.*529C>A)
c.599C>A (p.Ser200Ter)
1g.244054373C>GCA345673284ZBTB18c.572C>G (p.Ser191Ter)
c.*529C>G (n.*529C>G)
c.599C>G (p.Ser200Ter)
1g.244054373C>TCA345673283ZBTB18c.572C>T (p.Ser191Leu)
c.*529C>T (n.*529C>T)
c.599C>T (p.Ser200Leu)
1g.244054374A>CCA424410734ZBTB18c.573A>C (p.Ser191=)
c.*530A>C (n.*530A>C)
c.600A>C (p.Ser200=)
1g.244054374A>GCA424410735ZBTB18c.573A>G (p.Ser191=)
c.*530A>G (n.*530A>G)
c.600A>G (p.Ser200=)
1g.244054374A>TCA424410737ZBTB18c.573A>T (p.Ser191=)
c.*530A>T (n.*530A>T)
c.600A>T (p.Ser200=)
1g.244054375G>ACA345673285ZBTB18c.574G>A (p.Ala192Thr)
c.*531G>A (n.*531G>A)
c.601G>A (p.Ala201Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.244054375G>CCA345673286ZBTB18c.574G>C (p.Ala192Pro)
c.*531G>C (n.*531G>C)
c.601G>C (p.Ala201Pro)
1g.244054375G=CA1230659717ZBTB18c.574G= (p.Ala192=)
c.*531G= (n.*531G=)
c.601G= (p.Ala201=)
1g.244054375G>TCA345673287ZBTB18c.574G>T (p.Ala192Ser)
c.*531G>T (n.*531G>T)
c.601G>T (p.Ala201Ser)
1g.244054376C>ACA345673288ZBTB18c.575C>A (p.Ala192Glu)
c.*532C>A (n.*532C>A)
c.602C>A (p.Ala201Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.244054376C=CA1230659718ZBTB18c.575C= (p.Ala192=)
c.*532C= (n.*532C=)
c.602C= (p.Ala201=)
1g.244054376C>GCA345673289ZBTB18c.575C>G (p.Ala192Gly)
c.*532C>G (n.*532C>G)
c.602C>G (p.Ala201Gly)
1g.244054376C>TCA1484321ZBTB18c.575C>T (p.Ala192Val)
c.*532C>T (n.*532C>T)
c.602C>T (p.Ala201Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244054377A>CCA424410739ZBTB18c.576A>C (p.Ala192=)
c.*533A>C (n.*533A>C)
c.603A>C (p.Ala201=)
1g.244054377A>GCA424410741ZBTB18c.576A>G (p.Ala192=)
c.*533A>G (n.*533A>G)
c.603A>G (p.Ala201=)
1g.244054377A>TCA424410740ZBTB18c.576A>T (p.Ala192=)
c.*533A>T (n.*533A>T)
c.603A>T (p.Ala201=)
1g.244054378G>ACA345673290ZBTB18c.577G>A (p.Gly193Ser)
c.*534G>A (n.*534G>A)
c.604G>A (p.Gly202Ser)
1g.244054378G>CCA345673291ZBTB18c.577G>C (p.Gly193Arg)
c.*534G>C (n.*534G>C)
c.604G>C (p.Gly202Arg)
1g.244054378G>TCA345673292ZBTB18c.577G>T (p.Gly193Cys)
c.*534G>T (n.*534G>T)
c.604G>T (p.Gly202Cys)
1g.244054379G>ACA345673293ZBTB18c.578G>A (p.Gly193Asp)
c.*535G>A (n.*535G>A)
c.605G>A (p.Gly202Asp)
 ClinVar gnomAD v4
1g.244054379G>CCA345673294ZBTB18c.578G>C (p.Gly193Ala)
c.*535G>C (n.*535G>C)
c.605G>C (p.Gly202Ala)
1g.244054379G>TCA345673295ZBTB18c.578G>T (p.Gly193Val)
c.*535G>T (n.*535G>T)
c.605G>T (p.Gly202Val)
1g.244054380C>ACA424410747ZBTB18c.579C>A (p.Gly193=)
c.*536C>A (n.*536C>A)
c.606C>A (p.Gly202=)
1g.244054380C>GCA424410748ZBTB18c.579C>G (p.Gly193=)
c.*536C>G (n.*536C>G)
c.606C>G (p.Gly202=)
1g.244054380C>TCA424410749ZBTB18c.579C>T (p.Gly193=)
c.*536C>T (n.*536C>T)
c.606C>T (p.Gly202=)
 gnomAD v4
1g.244054381A=CA1230659719ZBTB18c.580A= (p.Ile194=)
c.*537A= (n.*537A=)
c.607A= (p.Ile203=)
1g.244054381A>CCA1484322ZBTB18c.580A>C (p.Ile194Leu)
c.*537A>C (n.*537A>C)
c.607A>C (p.Ile203Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244054381A>GCA345673297ZBTB18c.580A>G (p.Ile194Val)
c.*537A>G (n.*537A>G)
c.607A>G (p.Ile203Val)
1g.244054381A>TCA345673296ZBTB18c.580A>T (p.Ile194Phe)
c.*537A>T (n.*537A>T)
c.607A>T (p.Ile203Phe)
1g.244054382T>ACA345673298ZBTB18c.581T>A (p.Ile194Asn)
c.*538T>A (n.*538T>A)
c.608T>A (p.Ile203Asn)
1g.244054382T>CCA345673299ZBTB18c.581T>C (p.Ile194Thr)
c.*538T>C (n.*538T>C)
c.608T>C (p.Ile203Thr)
 dbSNP
1g.244054382T>GCA345673300ZBTB18c.581T>G (p.Ile194Ser)
c.*538T>G (n.*538T>G)
c.608T>G (p.Ile203Ser)
1g.244054382T=CA1230659721ZBTB18c.581T= (p.Ile194=)
c.*538T= (n.*538T=)
c.608T= (p.Ile203=)
1g.244054382_244054383delinsTCCA1230659720ZBTB18c.581_582delinsTC (p.Ile194=)
c.*538_*539delinsTC (n.*538_*539delinsTC)
c.608_609delinsTC (p.Ile203=)
1g.244054383C>ACA1484323ZBTB18c.582C>A (p.Ile194=)
c.*539C>A (n.*539C>A)
c.609C>A (p.Ile203=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244054383C=CA1230659722ZBTB18c.582C= (p.Ile194=)
c.*539C= (n.*539C=)
c.609C= (p.Ile203=)
1g.244054383C>GCA345673301ZBTB18c.582C>G (p.Ile194Met)
c.*539C>G (n.*539C>G)
c.609C>G (p.Ile203Met)
1g.244054383C>TCA424410754ZBTB18c.582C>T (p.Ile194=)
c.*539C>T (n.*539C>T)
c.609C>T (p.Ile203=)
 dbSNP gnomAD v3 gnomAD v4
1g.244054387delCA916445828ZBTB18c.586del (p.Gln196ArgfsTer17)
c.*543del (n.*543del)
c.613del (p.Gln205ArgfsTer17)
 dbSNP
1g.244054384C>ACA345673304ZBTB18c.583C>A (p.Pro195Thr)
c.*540C>A (n.*540C>A)
c.610C>A (p.Pro204Thr)
1g.244054384C>GCA345673303ZBTB18c.583C>G (p.Pro195Ala)
c.*540C>G (n.*540C>G)
c.610C>G (p.Pro204Ala)
1g.244054384C>TCA345673302ZBTB18c.583C>T (p.Pro195Ser)
c.*540C>T (n.*540C>T)
c.610C>T (p.Pro204Ser)
 gnomAD v4
1g.244054385C>ACA345673305ZBTB18c.584C>A (p.Pro195His)
c.*541C>A (n.*541C>A)
c.611C>A (p.Pro204His)
1g.244054385C=CA1230659723ZBTB18c.584C= (p.Pro195=)
c.*541C= (n.*541C=)
c.611C= (p.Pro204=)
1g.244054385C>GCA345673306ZBTB18c.584C>G (p.Pro195Arg)
c.*541C>G (n.*541C>G)
c.611C>G (p.Pro204Arg)
 gnomAD v4
1g.244054385C>TCA345673307ZBTB18c.584C>T (p.Pro195Leu)
c.*541C>T (n.*541C>T)
c.611C>T (p.Pro204Leu)
 dbSNP gnomAD v4
1g.244054386C>ACA424410758ZBTB18c.585C>A (p.Pro195=)
c.*542C>A (n.*542C>A)
c.612C>A (p.Pro204=)
1g.244054386C>GCA424410759ZBTB18c.585C>G (p.Pro195=)
c.*542C>G (n.*542C>G)
c.612C>G (p.Pro204=)
1g.244054386C>TCA424410760ZBTB18c.585C>T (p.Pro195=)
c.*542C>T (n.*542C>T)
c.612C>T (p.Pro204=)
 gnomAD v4
1g.244054387C>ACA345673308ZBTB18c.586C>A (p.Gln196Lys)
c.*543C>A (n.*543C>A)
c.613C>A (p.Gln205Lys)
1g.244054387C>GCA345673309ZBTB18c.586C>G (p.Gln196Glu)
c.*543C>G (n.*543C>G)
c.613C>G (p.Gln205Glu)
1g.244054387C>TCA345673310ZBTB18c.586C>T (p.Gln196Ter)
c.*543C>T (n.*543C>T)
c.613C>T (p.Gln205Ter)
1g.244054388A>CCA345673311ZBTB18c.587A>C (p.Gln196Pro)
c.*544A>C (n.*544A>C)
c.614A>C (p.Gln205Pro)
1g.244054388A>GCA345673313ZBTB18c.587A>G (p.Gln196Arg)
c.*544A>G (n.*544A>G)
c.614A>G (p.Gln205Arg)
1g.244054388A>TCA345673312ZBTB18c.587A>T (p.Gln196Leu)
c.*544A>T (n.*544A>T)
c.614A>T (p.Gln205Leu)
1g.244054389G>ACA424410762ZBTB18c.588G>A (p.Gln196=)
c.*545G>A (n.*545G>A)
c.615G>A (p.Gln205=)
 dbSNP gnomAD v4
1g.244054389G>CCA345673314ZBTB18c.588G>C (p.Gln196His)
c.*545G>C (n.*545G>C)
c.615G>C (p.Gln205His)
 gnomAD v4
1g.244054389G=CA1230659724ZBTB18c.588G= (p.Gln196=)
c.*545G= (n.*545G=)
c.615G= (p.Gln205=)
1g.244054389G>TCA345673315ZBTB18c.588G>T (p.Gln196His)
c.*545G>T (n.*545G>T)
c.615G>T (p.Gln205His)
1g.244054390G>ACA345673316ZBTB18c.589G>A (p.Ala197Thr)
c.*546G>A (n.*546G>A)
c.616G>A (p.Ala206Thr)
 gnomAD v4
1g.244054390G>CCA1484324ZBTB18c.589G>C (p.Ala197Pro)
c.*546G>C (n.*546G>C)
c.616G>C (p.Ala206Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244054390G=CA1230659725ZBTB18c.589G= (p.Ala197=)
c.*546G= (n.*546G=)
c.616G= (p.Ala206=)
1g.244054390G>TCA345673317ZBTB18c.589G>T (p.Ala197Ser)
c.*546G>T (n.*546G>T)
c.616G>T (p.Ala206Ser)
1g.244054391C>ACA345673318ZBTB18c.590C>A (p.Ala197Asp)
c.*547C>A (n.*547C>A)
c.617C>A (p.Ala206Asp)
1g.244054391C>GCA345673319ZBTB18c.590C>G (p.Ala197Gly)
c.*547C>G (n.*547C>G)
c.617C>G (p.Ala206Gly)
1g.244054391C>TCA345673320ZBTB18c.590C>T (p.Ala197Val)
c.*547C>T (n.*547C>T)
c.617C>T (p.Ala206Val)
1g.244054392T>ACA424410768ZBTB18c.591T>A (p.Ala197=)
c.*548T>A (n.*548T>A)
c.618T>A (p.Ala206=)
1g.244054392T>CCA424410769ZBTB18c.591T>C (p.Ala197=)
c.*548T>C (n.*548T>C)
c.618T>C (p.Ala206=)
1g.244054392T>GCA424410770ZBTB18c.591T>G (p.Ala197=)
c.*548T>G (n.*548T>G)
c.618T>G (p.Ala206=)
1g.244054393G>ACA345673321ZBTB18c.592G>A (p.Gly198Ser)
c.*549G>A (n.*549G>A)
c.619G>A (p.Gly207Ser)
 dbSNP
1g.244054393G>CCA345673322ZBTB18c.592G>C (p.Gly198Arg)
c.*549G>C (n.*549G>C)
c.619G>C (p.Gly207Arg)
1g.244054393G=CA1230659726ZBTB18c.592G= (p.Gly198=)
c.*549G= (n.*549G=)
c.619G= (p.Gly207=)
1g.244054393G>TCA345673323ZBTB18c.592G>T (p.Gly198Cys)
c.*549G>T (n.*549G>T)
c.619G>T (p.Gly207Cys)
 dbSNP
1g.244054394G>ACA1484325ZBTB18c.593G>A (p.Gly198Asp)
c.*550G>A (n.*550G>A)
c.620G>A (p.Gly207Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244054394G>CCA345673325ZBTB18c.593G>C (p.Gly198Ala)
c.*550G>C (n.*550G>C)
c.620G>C (p.Gly207Ala)
1g.244054394G=CA1230659727ZBTB18c.593G= (p.Gly198=)
c.*550G= (n.*550G=)
c.620G= (p.Gly207=)
1g.244054394G>TCA345673324ZBTB18c.593G>T (p.Gly198Val)
c.*550G>T (n.*550G>T)
c.620G>T (p.Gly207Val)
1g.244054395C>ACA424410775ZBTB18c.594C>A (p.Gly198=)
c.*551C>A (n.*551C>A)
c.621C>A (p.Gly207=)
1g.244054395C=CA1142414414ZBTB18c.594C= (p.Gly198=)
c.*551C= (n.*551C=)
c.621C= (p.Gly207=)
1g.244054395C>GCA424410776ZBTB18c.594C>G (p.Gly198=)
c.*551C>G (n.*551C>G)
c.621C>G (p.Gly207=)
1g.244054395C>TCA1484326ZBTB18c.594C>T (p.Gly198=)
c.*551C>T (n.*551C>T)
c.621C>T (p.Gly207=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244054396G>ACA41081513ZBTB18c.595G>A (p.Gly199Arg)
c.*552G>A (n.*552G>A)
c.622G>A (p.Gly208Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244054396G>CCA345673326ZBTB18c.595G>C (p.Gly199Arg)
c.*552G>C (n.*552G>C)
c.622G>C (p.Gly208Arg)
1g.244054396G=CA1230659728ZBTB18c.595G= (p.Gly199=)
c.*552G= (n.*552G=)
c.622G= (p.Gly208=)
1g.244054396G>TCA345673327ZBTB18c.595G>T (p.Gly199Ter)
c.*552G>T (n.*552G>T)
c.622G>T (p.Gly208Ter)
1g.244054397G>ACA345673328ZBTB18c.596G>A (p.Gly199Glu)
c.*553G>A (n.*553G>A)
c.623G>A (p.Gly208Glu)
1g.244054397G>CCA345673329ZBTB18c.596G>C (p.Gly199Ala)
c.*553G>C (n.*553G>C)
c.623G>C (p.Gly208Ala)
1g.244054397G>TCA345673330ZBTB18c.596G>T (p.Gly199Val)
c.*553G>T (n.*553G>T)
c.623G>T (p.Gly208Val)
1g.244054398A=CA1230659729ZBTB18c.597A= (p.Gly199=)
c.*554A= (n.*554A=)
c.624A= (p.Gly208=)
1g.244054398A>CCA424410787ZBTB18c.597A>C (p.Gly199=)
c.*554A>C (n.*554A>C)
c.624A>C (p.Gly208=)
 dbSNP gnomAD v3 gnomAD v4
1g.244054398A>GCA424410786ZBTB18c.597A>G (p.Gly199=)
c.*554A>G (n.*554A>G)
c.624A>G (p.Gly208=)
1g.244054398A>TCA424410785ZBTB18c.597A>T (p.Gly199=)
c.*554A>T (n.*554A>T)
c.624A>T (p.Gly208=)
1g.244054399G>ACA345673333ZBTB18c.598G>A (p.Glu200Lys)
c.*555G>A (n.*555G>A)
c.625G>A (p.Glu209Lys)
1g.244054399G>CCA345673331ZBTB18c.598G>C (p.Glu200Gln)
c.*555G>C (n.*555G>C)
c.625G>C (p.Glu209Gln)
1g.244054399G>TCA345673332ZBTB18c.598G>T (p.Glu200Ter)
c.*555G>T (n.*555G>T)
c.625G>T (p.Glu209Ter)
1g.244054400A>CCA345673334ZBTB18c.599A>C (p.Glu200Ala)
c.*556A>C (n.*556A>C)
c.626A>C (p.Glu209Ala)
1g.244054400A>GCA345673335ZBTB18c.599A>G (p.Glu200Gly)
c.*556A>G (n.*556A>G)
c.626A>G (p.Glu209Gly)
1g.244054400A>TCA345673336ZBTB18c.599A>T (p.Glu200Val)
c.*556A>T (n.*556A>T)
c.626A>T (p.Glu209Val)
1g.244054400_244054401insTCTCCA2586968541ZBTB18c.599_600insTCTC (p.Glu200AspfsTer?)
c.*556_*557insTCTC (n.*556_*557insTCTC)
c.626_627insTCTC (p.Glu209AspfsTer?)
1g.244054401G>ACA424410790ZBTB18c.600G>A (p.Glu200=)
c.*557G>A (n.*557G>A)
c.627G>A (p.Glu209=)
1g.244054401G>CCA345673337ZBTB18c.600G>C (p.Glu200Asp)
c.*557G>C (n.*557G>C)
c.627G>C (p.Glu209Asp)
1g.244054401G>TCA345673338ZBTB18c.600G>T (p.Glu200Asp)
c.*557G>T (n.*557G>T)
c.627G>T (p.Glu209Asp)
1g.244054402G>ACA345673339ZBTB18c.601G>A (p.Ala201Thr)
c.*558G>A (n.*558G>A)
c.628G>A (p.Ala210Thr)
1g.244054402G>CCA345673341ZBTB18c.601G>C (p.Ala201Pro)
c.*558G>C (n.*558G>C)
c.628G>C (p.Ala210Pro)
1g.244054402G>TCA345673340ZBTB18c.601G>T (p.Ala201Ser)
c.*558G>T (n.*558G>T)
c.628G>T (p.Ala210Ser)
1g.244054403C>ACA345673342ZBTB18c.602C>A (p.Ala201Glu)
c.*559C>A (n.*559C>A)
c.629C>A (p.Ala210Glu)
1g.244054403C=CA1230659730ZBTB18c.602C= (p.Ala201=)
c.*559C= (n.*559C=)
c.629C= (p.Ala210=)
1g.244054403C>GCA345673343ZBTB18c.602C>G (p.Ala201Gly)
c.*559C>G (n.*559C>G)
c.629C>G (p.Ala210Gly)
 ClinVar
1g.244054403C>TCA345673344ZBTB18c.602C>T (p.Ala201Val)
c.*559C>T (n.*559C>T)
c.629C>T (p.Ala210Val)
 dbSNP gnomAD v2 gnomAD v4
1g.244054404A>CCA424410791ZBTB18c.603A>C (p.Ala201=)
c.*560A>C (n.*560A>C)
c.630A>C (p.Ala210=)
 gnomAD v4
1g.244054404A>GCA424410794ZBTB18c.603A>G (p.Ala201=)
c.*560A>G (n.*560A>G)
c.630A>G (p.Ala210=)
 gnomAD v4
1g.244054404A>TCA424410793ZBTB18c.603A>T (p.Ala201=)
c.*560A>T (n.*560A>T)
c.630A>T (p.Ala210=)
1g.244054405G>ACA345673345ZBTB18c.604G>A (p.Glu202Lys)
c.*561G>A (n.*561G>A)
c.631G>A (p.Glu211Lys)
 COSMIC COSMIC
1g.244054405G>CCA345673346ZBTB18c.604G>C (p.Glu202Gln)
c.*561G>C (n.*561G>C)
c.631G>C (p.Glu211Gln)
1g.244054405G>TCA345673347ZBTB18c.604G>T (p.Glu202Ter)
c.*561G>T (n.*561G>T)
c.631G>T (p.Glu211Ter)
1g.244054406A>CCA345673348ZBTB18c.605A>C (p.Glu202Ala)
c.*562A>C (n.*562A>C)
c.632A>C (p.Glu211Ala)
1g.244054406A>GCA345673349ZBTB18c.605A>G (p.Glu202Gly)
c.*562A>G (n.*562A>G)
c.632A>G (p.Glu211Gly)
 gnomAD v4
1g.244054406A>TCA345673350ZBTB18c.605A>T (p.Glu202Val)
c.*562A>T (n.*562A>T)
c.632A>T (p.Glu211Val)
1g.244054407G>ACA424410798ZBTB18c.606G>A (p.Glu202=)
c.*563G>A (n.*563G>A)
c.633G>A (p.Glu211=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244054407G>CCA345673351ZBTB18c.606G>C (p.Glu202Asp)
c.*563G>C (n.*563G>C)
c.633G>C (p.Glu211Asp)
 gnomAD v4
1g.244054407G=CA1230659731ZBTB18c.606G= (p.Glu202=)
c.*563G= (n.*563G=)
c.633G= (p.Glu211=)
1g.244054407G>TCA345673352ZBTB18c.606G>T (p.Glu202Asp)
c.*563G>T (n.*563G>T)
c.633G>T (p.Glu211Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.244054408C>ACA345673353ZBTB18c.607C>A (p.Pro203Thr)
c.*564C>A (n.*564C>A)
c.634C>A (p.Pro212Thr)
 gnomAD v4
1g.244054408C=CA1230659732ZBTB18c.607C= (p.Pro203=)
c.*564C= (n.*564C=)
c.634C= (p.Pro212=)
1g.244054408C>GCA345673355ZBTB18c.607C>G (p.Pro203Ala)
c.*564C>G (n.*564C>G)
c.634C>G (p.Pro212Ala)
1g.244054408C>TCA345673354ZBTB18c.607C>T (p.Pro203Ser)
c.*564C>T (n.*564C>T)
c.634C>T (p.Pro212Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.244054409delCA658764560ZBTB18c.608del (p.Pro203HisfsTer10)
c.*565del (n.*565del)
c.635del (p.Pro212HisfsTer10)
1g.244054409C>ACA345673356ZBTB18c.608C>A (p.Pro203Gln)
c.*565C>A (n.*565C>A)
c.635C>A (p.Pro212Gln)
1g.244054409C=CA1230659733ZBTB18c.608C= (p.Pro203=)
c.*565C= (n.*565C=)
c.635C= (p.Pro212=)
1g.244054409C>GCA345673357ZBTB18c.608C>G (p.Pro203Arg)
c.*565C>G (n.*565C>G)
c.635C>G (p.Pro212Arg)
 gnomAD v4
1g.244054409C>TCA345673358ZBTB18c.608C>T (p.Pro203Leu)
c.*565C>T (n.*565C>T)
c.635C>T (p.Pro212Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244054410A>CCA424410804ZBTB18c.609A>C (p.Pro203=)
c.*566A>C (n.*566A>C)
c.636A>C (p.Pro212=)
1g.244054410A>GCA424410805ZBTB18c.609A>G (p.Pro203=)
c.*566A>G (n.*566A>G)
c.636A>G (p.Pro212=)
1g.244054410A>TCA424410806ZBTB18c.609A>T (p.Pro203=)
c.*566A>T (n.*566A>T)
c.636A>T (p.Pro212=)
1g.244054411C>ACA345673359ZBTB18c.610C>A (p.His204Asn)
c.*567C>A (n.*567C>A)
c.637C>A (p.His213Asn)
1g.244054411C>GCA345673360ZBTB18c.610C>G (p.His204Asp)
c.*567C>G (n.*567C>G)
c.637C>G (p.His213Asp)
1g.244054411C>TCA345673361ZBTB18c.610C>T (p.His204Tyr)
c.*567C>T (n.*567C>T)
c.637C>T (p.His213Tyr)
1g.244054412A=CA1144371146ZBTB18c.611A= (p.His204=)
c.*568A= (n.*568A=)
c.638A= (p.His213=)
1g.244054412A>CCA345673362ZBTB18c.611A>C (p.His204Pro)
c.*568A>C (n.*568A>C)
c.638A>C (p.His213Pro)
1g.244054412A>GCA1484328ZBTB18c.611A>G (p.His204Arg)
c.*568A>G (n.*568A>G)
c.638A>G (p.His213Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244054412A>TCA1484327ZBTB18c.611A>T (p.His204Leu)
c.*568A>T (n.*568A>T)
c.638A>T (p.His213Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244054413C>ACA345673363ZBTB18c.612C>A (p.His204Gln)
c.*569C>A (n.*569C>A)
c.639C>A (p.His213Gln)
1g.244054413C=CA1230659734ZBTB18c.612C= (p.His204=)
c.*569C= (n.*569C=)
c.639C= (p.His213=)
1g.244054413C>GCA345673364ZBTB18c.612C>G (p.His204Gln)
c.*569C>G (n.*569C>G)
c.639C>G (p.His213Gln)
 dbSNP
1g.244054413C>TCA1484329ZBTB18c.612C>T (p.His204=)
c.*569C>T (n.*569C>T)
c.639C>T (p.His213=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.244054414G>ACA1484330ZBTB18c.613G>A (p.Ala205Thr)
c.*570G>A (n.*570G>A)
c.640G>A (p.Ala214Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244054414G>CCA345673365ZBTB18c.613G>C (p.Ala205Pro)
c.*570G>C (n.*570G>C)
c.640G>C (p.Ala214Pro)
1g.244054414G=CA1143497607ZBTB18c.613G= (p.Ala205=)
c.*570G= (n.*570G=)
c.640G= (p.Ala214=)
1g.244054414G>TCA345673366ZBTB18c.613G>T (p.Ala205Ser)
c.*570G>T (n.*570G>T)
c.640G>T (p.Ala214Ser)
 gnomAD v4
1g.244054414_244054415delinsCTCA2580063494ZBTB18c.613_614delinsCT (p.Ala205Leu)
c.*570_*571delinsCT (n.*570_*571delinsCT)
c.640_641delinsCT (p.Ala214Leu)
 ClinVar
1g.244054415C>ACA41081514ZBTB18c.614C>A (p.Ala205Asp)
c.*571C>A (n.*571C>A)
c.641C>A (p.Ala214Asp)
 dbSNP
1g.244054415C=CA1230659735ZBTB18c.614C= (p.Ala205=)
c.*571C= (n.*571C=)
c.641C= (p.Ala214=)
1g.244054415C>GCA345673367ZBTB18c.614C>G (p.Ala205Gly)
c.*571C>G (n.*571C>G)
c.641C>G (p.Ala214Gly)
1g.244054415C>TCA345673368ZBTB18c.614C>T (p.Ala205Val)
c.*571C>T (n.*571C>T)
c.641C>T (p.Ala214Val)
1g.244054416C>ACA424410821ZBTB18c.615C>A (p.Ala205=)
c.*572C>A (n.*572C>A)
c.642C>A (p.Ala214=)
 dbSNP gnomAD v2 gnomAD v4
1g.244054416C=CA1230659736ZBTB18c.615C= (p.Ala205=)
c.*572C= (n.*572C=)
c.642C= (p.Ala214=)
1g.244054416C>GCA424410822ZBTB18c.615C>G (p.Ala205=)
c.*572C>G (n.*572C>G)
c.642C>G (p.Ala214=)
1g.244054416C>TCA424410823ZBTB18c.615C>T (p.Ala205=)
c.*572C>T (n.*572C>T)
c.642C>T (p.Ala214=)
1g.244054417A=CA1140279646ZBTB18c.616A= (p.Thr206=)
c.*573A= (n.*573A=)
c.643A= (p.Thr215=)
1g.244054417A>CCA345673369ZBTB18c.616A>C (p.Thr206Pro)
c.*573A>C (n.*573A>C)
c.643A>C (p.Thr215Pro)
1g.244054417A>GCA345673370ZBTB18c.616A>G (p.Thr206Ala)
c.*573A>G (n.*573A>G)
c.643A>G (p.Thr215Ala)
1g.244054417A>TCA41081515ZBTB18c.616A>T (p.Thr206Ser)
c.*573A>T (n.*573A>T)
c.643A>T (p.Thr215Ser)
 dbSNP
1g.244054418C>ACA345673371ZBTB18c.617C>A (p.Thr206Lys)
c.*574C>A (n.*574C>A)
c.644C>A (p.Thr215Lys)
1g.244054418C>GCA345673372ZBTB18c.617C>G (p.Thr206Arg)
c.*574C>G (n.*574C>G)
c.644C>G (p.Thr215Arg)
1g.244054418C>TCA345673373ZBTB18c.617C>T (p.Thr206Ile)
c.*574C>T (n.*574C>T)
c.644C>T (p.Thr215Ile)
1g.244054419A>CCA424410831ZBTB18c.618A>C (p.Thr206=)
c.*575A>C (n.*575A>C)
c.645A>C (p.Thr215=)
1g.244054419A>GCA424410832ZBTB18c.618A>G (p.Thr206=)
c.*575A>G (n.*575A>G)
c.645A>G (p.Thr215=)
1g.244054419A>TCA424410833ZBTB18c.618A>T (p.Thr206=)
c.*575A>T (n.*575A>T)
c.645A>T (p.Thr215=)
1g.244054420G>ACA345673374ZBTB18c.619G>A (p.Ala207Thr)
c.*576G>A (n.*576G>A)
c.646G>A (p.Ala216Thr)
1g.244054420G>CCA345673375ZBTB18c.619G>C (p.Ala207Pro)
c.*576G>C (n.*576G>C)
c.646G>C (p.Ala216Pro)
1g.244054420G>TCA345673376ZBTB18c.619G>T (p.Ala207Ser)
c.*576G>T (n.*576G>T)
c.646G>T (p.Ala216Ser)
1g.244054421C>ACA345673378ZBTB18c.620C>A (p.Ala207Glu)
c.*577C>A (n.*577C>A)
c.647C>A (p.Ala216Glu)
 gnomAD v4
1g.244054421C=CA1230659737ZBTB18c.620C= (p.Ala207=)
c.*577C= (n.*577C=)
c.647C= (p.Ala216=)
1g.244054421C>GCA345673379ZBTB18c.620C>G (p.Ala207Gly)
c.*577C>G (n.*577C>G)
c.647C>G (p.Ala216Gly)
1g.244054421C>TCA345673377ZBTB18c.620C>T (p.Ala207Val)
c.*577C>T (n.*577C>T)
c.647C>T (p.Ala216Val)
 dbSNP gnomAD v2 gnomAD v4
1g.244054422A>CCA424410835ZBTB18c.621A>C (p.Ala207=)
c.*578A>C (n.*578A>C)
c.648A>C (p.Ala216=)
1g.244054422A>GCA424410836ZBTB18c.621A>G (p.Ala207=)
c.*578A>G (n.*578A>G)
c.648A>G (p.Ala216=)
1g.244054422A>TCA424410838ZBTB18c.621A>T (p.Ala207=)
c.*578A>T (n.*578A>T)
c.648A>T (p.Ala216=)
 gnomAD v4
1g.244054423G>ACA345673381ZBTB18c.622G>A (p.Ala208Thr)
c.*579G>A (n.*579G>A)
c.649G>A (p.Ala217Thr)
1g.244054423G>CCA345673380ZBTB18c.622G>C (p.Ala208Pro)
c.*579G>C (n.*579G>C)
c.649G>C (p.Ala217Pro)
 gnomAD v4
1g.244054423G>TCA345673382ZBTB18c.622G>T (p.Ala208Ser)
c.*579G>T (n.*579G>T)
c.649G>T (p.Ala217Ser)
1g.244054424C>ACA345673383ZBTB18c.623C>A (p.Ala208Asp)
c.*580C>A (n.*580C>A)
c.650C>A (p.Ala217Asp)
1g.244054424C>GCA345673385ZBTB18c.623C>G (p.Ala208Gly)
c.*580C>G (n.*580C>G)
c.650C>G (p.Ala217Gly)
1g.244054424C>TCA345673384ZBTB18c.623C>T (p.Ala208Val)
c.*580C>T (n.*580C>T)
c.650C>T (p.Ala217Val)
1g.244054425T>ACA424410844ZBTB18c.624T>A (p.Ala208=)
c.*581T>A (n.*581T>A)
c.651T>A (p.Ala217=)
 gnomAD v4
1g.244054425T>CCA424410842ZBTB18c.624T>C (p.Ala208=)
c.*581T>C (n.*581T>C)
c.651T>C (p.Ala217=)
1g.244054425T>GCA424410843ZBTB18c.624T>G (p.Ala208=)
c.*581T>G (n.*581T>G)
c.651T>G (p.Ala217=)
1g.244054426G>ACA345673386ZBTB18c.625G>A (p.Gly209Arg)
c.*582G>A (n.*582G>A)
c.652G>A (p.Gly218Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.244054426G>CCA345673388ZBTB18c.625G>C (p.Gly209Arg)
c.*582G>C (n.*582G>C)
c.652G>C (p.Gly218Arg)
1g.244054426G=CA1230659738ZBTB18c.625G= (p.Gly209=)
c.*582G= (n.*582G=)
c.652G= (p.Gly218=)
1g.244054426G>TCA345673387ZBTB18c.625G>T (p.Gly209Ter)
c.*582G>T (n.*582G>T)
c.652G>T (p.Gly218Ter)
1g.244054427G>ACA345673389ZBTB18c.626G>A (p.Gly209Glu)
c.*583G>A (n.*583G>A)
c.653G>A (p.Gly218Glu)
 gnomAD v4
1g.244054427G>CCA345673390ZBTB18c.626G>C (p.Gly209Ala)
c.*583G>C (n.*583G>C)
c.653G>C (p.Gly218Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244054427G=CA1230659739ZBTB18c.626G= (p.Gly209=)
c.*583G= (n.*583G=)
c.653G= (p.Gly218=)
1g.244054427G>TCA41081516ZBTB18c.626G>T (p.Gly209Val)
c.*583G>T (n.*583G>T)
c.653G>T (p.Gly218Val)
 dbSNP
1g.244054428A>CCA424410851ZBTB18c.627A>C (p.Gly209=)
c.*584A>C (n.*584A>C)
c.654A>C (p.Gly218=)
1g.244054428A>GCA424410852ZBTB18c.627A>G (p.Gly209=)
c.*584A>G (n.*584A>G)
c.654A>G (p.Gly218=)
1g.244054428A>TCA424410853ZBTB18c.627A>T (p.Gly209=)
c.*584A>T (n.*584A>T)
c.654A>T (p.Gly218=)
1g.244054432dupCA1139656731ZBTB18c.631dup (p.Thr211AsnfsTer?)
c.631dup (p.Thr211AsnfsTer27)
c.*588dup (n.*588dup)
c.658dup (p.Thr220AsnfsTer27)
 ClinVar dbSNP
1g.244054429A>CCA345673391ZBTB18c.628A>C (p.Lys210Gln)
c.*585A>C (n.*585A>C)
c.655A>C (p.Lys219Gln)
1g.244054429A>GCA345673392ZBTB18c.628A>G (p.Lys210Glu)
c.*585A>G (n.*585A>G)
c.655A>G (p.Lys219Glu)
1g.244054429A>TCA345673393ZBTB18c.628A>T (p.Lys210Ter)
c.*585A>T (n.*585A>T)
c.655A>T (p.Lys219Ter)
1g.244054430A>CCA345673394ZBTB18c.629A>C (p.Lys210Thr)
c.*586A>C (n.*586A>C)
c.656A>C (p.Lys219Thr)
1g.244054430A>GCA345673395ZBTB18c.629A>G (p.Lys210Arg)
c.*586A>G (n.*586A>G)
c.656A>G (p.Lys219Arg)
1g.244054430A>TCA345673396ZBTB18c.629A>T (p.Lys210Ile)
c.*586A>T (n.*586A>T)
c.656A>T (p.Lys219Ile)
1g.244054431A>CCA345673398ZBTB18c.630A>C (p.Lys210Asn)
c.*587A>C (n.*587A>C)
c.657A>C (p.Lys219Asn)
1g.244054431A>GCA424410858ZBTB18c.630A>G (p.Lys210=)
c.*587A>G (n.*587A>G)
c.657A>G (p.Lys219=)
1g.244054431A>TCA345673397ZBTB18c.630A>T (p.Lys210Asn)
c.*587A>T (n.*587A>T)
c.657A>T (p.Lys219Asn)
1g.244054432A=CA1230659740ZBTB18c.631A= (p.Thr211=)
c.*588A= (n.*588A=)
c.658A= (p.Thr220=)
1g.244054432A>CCA345673399ZBTB18c.631A>C (p.Thr211Pro)
c.*588A>C (n.*588A>C)
c.658A>C (p.Thr220Pro)
 dbSNP
1g.244054432A>GCA345673400ZBTB18c.631A>G (p.Thr211Ala)
c.*588A>G (n.*588A>G)
c.658A>G (p.Thr220Ala)
1g.244054432A>TCA345673401ZBTB18c.631A>T (p.Thr211Ser)
c.*588A>T (n.*588A>T)
c.658A>T (p.Thr220Ser)
1g.244054433C>ACA345673402ZBTB18c.632C>A (p.Thr211Lys)
c.*589C>A (n.*589C>A)
c.659C>A (p.Thr220Lys)
1g.244054433C>GCA345673403ZBTB18c.632C>G (p.Thr211Arg)
c.*589C>G (n.*589C>G)
c.659C>G (p.Thr220Arg)
1g.244054433C>TCA345673404ZBTB18c.632C>T (p.Thr211Ile)
c.*589C>T (n.*589C>T)
c.659C>T (p.Thr220Ile)
 gnomAD v4
1g.244054434A>CCA424410862ZBTB18c.633A>C (p.Thr211=)
c.*590A>C (n.*590A>C)
c.660A>C (p.Thr220=)
1g.244054434A>GCA424410863ZBTB18c.633A>G (p.Thr211=)
c.*590A>G (n.*590A>G)
c.660A>G (p.Thr220=)
1g.244054434A>TCA424410864ZBTB18c.633A>T (p.Thr211=)
c.*590A>T (n.*590A>T)
c.660A>T (p.Thr220=)
1g.244054435G>ACA345673407ZBTB18c.634G>A (p.Val212Ile)
c.*591G>A (n.*591G>A)
c.661G>A (p.Val221Ile)
1g.244054435G>CCA345673405ZBTB18c.634G>C (p.Val212Leu)
c.*591G>C (n.*591G>C)
c.661G>C (p.Val221Leu)
1g.244054435G>TCA345673406ZBTB18c.634G>T (p.Val212Leu)
c.*591G>T (n.*591G>T)
c.661G>T (p.Val221Leu)
1g.244054436T>ACA345673408ZBTB18c.635T>A (p.Val212Glu)
c.*592T>A (n.*592T>A)
c.662T>A (p.Val221Glu)
1g.244054436T>CCA345673409ZBTB18c.635T>C (p.Val212Ala)
c.*592T>C (n.*592T>C)
c.662T>C (p.Val221Ala)
 gnomAD v4
1g.244054436T>GCA345673410ZBTB18c.635T>G (p.Val212Gly)
c.*592T>G (n.*592T>G)
c.662T>G (p.Val221Gly)
1g.244054437A>CCA424410872ZBTB18c.636A>C (p.Val212=)
c.*593A>C (n.*593A>C)
c.663A>C (p.Val221=)
1g.244054437A>GCA424410874ZBTB18c.636A>G (p.Val212=)
c.*593A>G (n.*593A>G)
c.663A>G (p.Val221=)
 gnomAD v4
1g.244054437A>TCA424410875ZBTB18c.636A>T (p.Val212=)
c.*593A>T (n.*593A>T)
c.663A>T (p.Val221=)
1g.244054438G>ACA345673411ZBTB18c.637G>A (p.Ala213Thr)
c.*594G>A (n.*594G>A)
c.664G>A (p.Ala222Thr)
1g.244054438G>CCA345673412ZBTB18c.637G>C (p.Ala213Pro)
c.*594G>C (n.*594G>C)
c.664G>C (p.Ala222Pro)
 ClinVar
1g.244054438G>TCA345673413ZBTB18c.637G>T (p.Ala213Ser)
c.*594G>T (n.*594G>T)
c.664G>T (p.Ala222Ser)
1g.244054439C>ACA345673414ZBTB18c.638C>A (p.Ala213Asp)
c.*595C>A (n.*595C>A)
c.665C>A (p.Ala222Asp)
1g.244054439C>GCA345673415ZBTB18c.638C>G (p.Ala213Gly)
c.*595C>G (n.*595C>G)
c.665C>G (p.Ala222Gly)
1g.244054439C>TCA345673416ZBTB18c.638C>T (p.Ala213Val)
c.*595C>T (n.*595C>T)
c.665C>T (p.Ala222Val)
1g.244054440C>ACA424410882ZBTB18c.639C>A (p.Ala213=)
c.*596C>A (n.*596C>A)
c.666C>A (p.Ala222=)
1g.244054440C>GCA424410883ZBTB18c.639C>G (p.Ala213=)
c.*596C>G (n.*596C>G)
c.666C>G (p.Ala222=)
 dbSNP
1g.244054440C>TCA424410884ZBTB18c.639C>T (p.Ala213=)
c.*596C>T (n.*596C>T)
c.666C>T (p.Ala222=)
1g.244054441A>CCA345673417ZBTB18c.640A>C (p.Ser214Arg)
c.*597A>C (n.*597A>C)
c.667A>C (p.Ser223Arg)
1g.244054441A>GCA345673418ZBTB18c.640A>G (p.Ser214Gly)
c.*597A>G (n.*597A>G)
c.667A>G (p.Ser223Gly)
1g.244054441A>TCA345673419ZBTB18c.640A>T (p.Ser214Cys)
c.*597A>T (n.*597A>T)
c.667A>T (p.Ser223Cys)
1g.244054442G>ACA345673422ZBTB18c.641G>A (p.Ser214Asn)
c.*598G>A (n.*598G>A)
c.668G>A (p.Ser223Asn)
1g.244054442G>CCA345673420ZBTB18c.641G>C (p.Ser214Thr)
c.*598G>C (n.*598G>C)
c.668G>C (p.Ser223Thr)
1g.244054442G>TCA345673421ZBTB18c.641G>T (p.Ser214Ile)
c.*598G>T (n.*598G>T)
c.668G>T (p.Ser223Ile)
1g.244054442_244054443delinsGCCA1230659741ZBTB18c.641_642delinsGC (p.Ser214=)
c.*598_*599delinsGC (n.*598_*599delinsGC)
c.668_669delinsGC (p.Ser223=)
1g.244054443C>ACA345673423ZBTB18c.642C>A (p.Ser214Arg)
c.*599C>A (n.*599C>A)
c.669C>A (p.Ser223Arg)
1g.244054443C=CA1230659742ZBTB18c.642C= (p.Ser214=)
c.*599C= (n.*599C=)
c.669C= (p.Ser223=)
1g.244054443C>GCA345673424ZBTB18c.642C>G (p.Ser214Arg)
c.*599C>G (n.*599C>G)
c.669C>G (p.Ser223Arg)
1g.244054443C>TCA424410889ZBTB18c.642C>T (p.Ser214=)
c.*599C>T (n.*599C>T)
c.669C>T (p.Ser223=)
 ClinVar dbSNP
1g.244054446delCA916445829ZBTB18c.645del (p.Cys216AlafsTer28)
c.645del (p.Cys216AlafsTer15)
c.*602del (n.*602del)
c.672del (p.Cys225AlafsTer15)
 dbSNP
1g.244054444C>ACA345673425ZBTB18c.643C>A (p.Pro215Thr)
c.*600C>A (n.*600C>A)
c.670C>A (p.Pro224Thr)
1g.244054444C>GCA345673426ZBTB18c.643C>G (p.Pro215Ala)
c.*600C>G (n.*600C>G)
c.670C>G (p.Pro224Ala)
1g.244054444C>TCA345673427ZBTB18c.643C>T (p.Pro215Ser)
c.*600C>T (n.*600C>T)
c.670C>T (p.Pro224Ser)
 dbSNP
1g.244054445C>ACA345673428ZBTB18c.644C>A (p.Pro215His)
c.*601C>A (n.*601C>A)
c.671C>A (p.Pro224His)
1g.244054445C>GCA345673429ZBTB18c.644C>G (p.Pro215Arg)
c.*601C>G (n.*601C>G)
c.671C>G (p.Pro224Arg)
1g.244054445C>TCA345673430ZBTB18c.644C>T (p.Pro215Leu)
c.*601C>T (n.*601C>T)
c.671C>T (p.Pro224Leu)
1g.244054446C>ACA424410897ZBTB18c.645C>A (p.Pro215=)
c.*602C>A (n.*602C>A)
c.672C>A (p.Pro224=)
1g.244054446C=CA1230659743ZBTB18c.645C= (p.Pro215=)
c.*602C= (n.*602C=)
c.672C= (p.Pro224=)
1g.244054446C>GCA424410900ZBTB18c.645C>G (p.Pro215=)
c.*602C>G (n.*602C>G)
c.672C>G (p.Pro224=)
1g.244054446C>TCA424410904ZBTB18c.645C>T (p.Pro215=)
c.*602C>T (n.*602C>T)
c.672C>T (p.Pro224=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244054447T>ACA345673431ZBTB18c.646T>A (p.Cys216Ser)
c.*603T>A (n.*603T>A)
c.673T>A (p.Cys225Ser)
1g.244054447T>CCA345673432ZBTB18c.646T>C (p.Cys216Arg)
c.*603T>C (n.*603T>C)
c.673T>C (p.Cys225Arg)
1g.244054447T>GCA345673433ZBTB18c.646T>G (p.Cys216Gly)
c.*603T>G (n.*603T>G)
c.673T>G (p.Cys225Gly)
1g.244054448G>ACA345673434ZBTB18c.647G>A (p.Cys216Tyr)
c.*604G>A (n.*604G>A)
c.674G>A (p.Cys225Tyr)
 gnomAD v4
1g.244054448G>CCA345673435ZBTB18c.647G>C (p.Cys216Ser)
c.*604G>C (n.*604G>C)
c.674G>C (p.Cys225Ser)
1g.244054448G>TCA345673436ZBTB18c.647G>T (p.Cys216Phe)
c.*604G>T (n.*604G>T)
c.674G>T (p.Cys225Phe)
1g.244054449C>ACA345673437ZBTB18c.648C>A (p.Cys216Ter)
c.*605C>A (n.*605C>A)
c.675C>A (p.Cys225Ter)
1g.244054449C=CA1230659744ZBTB18c.648C= (p.Cys216=)
c.*605C= (n.*605C=)
c.675C= (p.Cys225=)
1g.244054449C>GCA345673438ZBTB18c.648C>G (p.Cys216Trp)
c.*605C>G (n.*605C>G)
c.675C>G (p.Cys225Trp)
1g.244054449C>TCA424410909ZBTB18c.648C>T (p.Cys216=)
c.*605C>T (n.*605C>T)
c.675C>T (p.Cys225=)
 dbSNP gnomAD v3 gnomAD v4
1g.244054450A>CCA345673439ZBTB18c.649A>C (p.Ser217Arg)
c.*606A>C (n.*606A>C)
c.676A>C (p.Ser226Arg)
1g.244054450A>GCA345673440ZBTB18c.649A>G (p.Ser217Gly)
c.*606A>G (n.*606A>G)
c.676A>G (p.Ser226Gly)
 gnomAD v4
1g.244054450A>TCA345673441ZBTB18c.649A>T (p.Ser217Cys)
c.*606A>T (n.*606A>T)
c.676A>T (p.Ser226Cys)
1g.244054451G>ACA345673442ZBTB18c.650G>A (p.Ser217Asn)
c.*607G>A (n.*607G>A)
c.677G>A (p.Ser226Asn)
1g.244054451G>CCA345673443ZBTB18c.650G>C (p.Ser217Thr)
c.*607G>C (n.*607G>C)
c.677G>C (p.Ser226Thr)
1g.244054451G>TCA345673444ZBTB18c.650G>T (p.Ser217Ile)
c.*607G>T (n.*607G>T)
c.677G>T (p.Ser226Ile)
1g.244054452C>ACA345673445ZBTB18c.651C>A (p.Ser217Arg)
c.*608C>A (n.*608C>A)
c.678C>A (p.Ser226Arg)
1g.244054452C>GCA345673446ZBTB18c.651C>G (p.Ser217Arg)
c.*608C>G (n.*608C>G)
c.678C>G (p.Ser226Arg)
1g.244054452C>TCA424410912ZBTB18c.651C>T (p.Ser217=)
c.*608C>T (n.*608C>T)
c.678C>T (p.Ser226=)
 gnomAD v4
1g.244054453T>ACA345673447ZBTB18c.652T>A (p.Ser218Thr)
c.*609T>A (n.*609T>A)
c.679T>A (p.Ser227Thr)
1g.244054453T>CCA345673448ZBTB18c.652T>C (p.Ser218Pro)
c.*609T>C (n.*609T>C)
c.679T>C (p.Ser227Pro)
1g.244054453T>GCA345673449ZBTB18c.652T>G (p.Ser218Ala)
c.*609T>G (n.*609T>G)
c.679T>G (p.Ser227Ala)
1g.244054454C>ACA345673450ZBTB18c.653C>A (p.Ser218Ter)
c.*610C>A (n.*610C>A)
c.680C>A (p.Ser227Ter)
1g.244054454C>GCA345673452ZBTB18c.653C>G (p.Ser218Ter)
c.*610C>G (n.*610C>G)
c.680C>G (p.Ser227Ter)
1g.244054454C>TCA345673451ZBTB18c.653C>T (p.Ser218Leu)
c.*610C>T (n.*610C>T)
c.680C>T (p.Ser227Leu)
1g.244054455A=CA1230659745ZBTB18c.654A= (p.Ser218=)
c.*611A= (n.*611A=)
c.681A= (p.Ser227=)
1g.244054455A>CCA424410922ZBTB18c.654A>C (p.Ser218=)
c.*611A>C (n.*611A>C)
c.681A>C (p.Ser227=)
 gnomAD v4
1g.244054455A>GCA424410921ZBTB18c.654A>G (p.Ser218=)
c.*611A>G (n.*611A>G)
c.681A>G (p.Ser227=)
 dbSNP gnomAD v4
1g.244054455A>TCA424410919ZBTB18c.654A>T (p.Ser218=)
c.*611A>T (n.*611A>T)
c.681A>T (p.Ser227=)
1g.244054456A>CCA345673453ZBTB18c.655A>C (p.Thr219Pro)
c.*612A>C (n.*612A>C)
c.682A>C (p.Thr228Pro)
1g.244054456A>GCA345673455ZBTB18c.655A>G (p.Thr219Ala)
c.*612A>G (n.*612A>G)
c.682A>G (p.Thr228Ala)
1g.244054456A>TCA345673454ZBTB18c.655A>T (p.Thr219Ser)
c.*612A>T (n.*612A>T)
c.682A>T (p.Thr228Ser)
1g.244054457C>ACA345673456ZBTB18c.656C>A (p.Thr219Lys)
c.*613C>A (n.*613C>A)
c.683C>A (p.Thr228Lys)
1g.244054457C>GCA345673457ZBTB18c.656C>G (p.Thr219Arg)
c.*613C>G (n.*613C>G)
c.683C>G (p.Thr228Arg)
1g.244054457C>TCA345673458ZBTB18c.656C>T (p.Thr219Ile)
c.*613C>T (n.*613C>T)
c.683C>T (p.Thr228Ile)
1g.244054458A=CA1230659746ZBTB18c.657A= (p.Thr219=)
c.*614A= (n.*614A=)
c.684A= (p.Thr228=)
1g.244054458A>CCA424410927ZBTB18c.657A>C (p.Thr219=)
c.*614A>C (n.*614A>C)
c.684A>C (p.Thr228=)
 gnomAD v4
1g.244054458A>GCA424410933ZBTB18c.657A>G (p.Thr219=)
c.*614A>G (n.*614A>G)
c.684A>G (p.Thr228=)
 dbSNP gnomAD v2 gnomAD v4
1g.244054458A>TCA424410929ZBTB18c.657A>T (p.Thr219=)
c.*614A>T (n.*614A>T)
c.684A>T (p.Thr228=)
1g.244054460_244054461delCA2573332362ZBTB18c.659_660del (p.Glu220ValfsTer?)
c.659_660del (p.Glu220ValfsTer17)
c.*616_*617del (n.*616_*617del)
c.686_687del (p.Glu229ValfsTer17)
 ClinVar
1g.244054459G>ACA345673459ZBTB18c.658G>A (p.Glu220Lys)
c.*615G>A (n.*615G>A)
c.685G>A (p.Glu229Lys)
1g.244054459G>CCA345673460ZBTB18c.658G>C (p.Glu220Gln)
c.*615G>C (n.*615G>C)
c.685G>C (p.Glu229Gln)
1g.244054459G>TCA345673461ZBTB18c.658G>T (p.Glu220Ter)
c.*615G>T (n.*615G>T)
c.685G>T (p.Glu229Ter)
1g.244054460A=CA1230659747ZBTB18c.659A= (p.Glu220=)
c.*616A= (n.*616A=)
c.686A= (p.Glu229=)
1g.244054460A>CCA345673462ZBTB18c.659A>C (p.Glu220Ala)
c.*616A>C (n.*616A>C)
c.686A>C (p.Glu229Ala)
1g.244054460A>GCA345673463ZBTB18c.659A>G (p.Glu220Gly)
c.*616A>G (n.*616A>G)
c.686A>G (p.Glu229Gly)
1g.244054460A>TCA345673464ZBTB18c.659A>T (p.Glu220Val)
c.*616A>T (n.*616A>T)
c.686A>T (p.Glu229Val)
 dbSNP
1g.244054461G>ACA424410942ZBTB18c.660G>A (p.Glu220=)
c.*617G>A (n.*617G>A)
c.687G>A (p.Glu229=)
1g.244054461G>CCA345673465ZBTB18c.660G>C (p.Glu220Asp)
c.*617G>C (n.*617G>C)
c.687G>C (p.Glu229Asp)
1g.244054461G>TCA345673466ZBTB18c.660G>T (p.Glu220Asp)
c.*617G>T (n.*617G>T)
c.687G>T (p.Glu229Asp)
1g.244054462T>ACA345673469ZBTB18c.661T>A (p.Ser221Thr)
c.*618T>A (n.*618T>A)
c.688T>A (p.Ser230Thr)
1g.244054462T>CCA345673467ZBTB18c.661T>C (p.Ser221Pro)
c.*618T>C (n.*618T>C)
c.688T>C (p.Ser230Pro)
1g.244054462T>GCA345673468ZBTB18c.661T>G (p.Ser221Ala)
c.*618T>G (n.*618T>G)
c.688T>G (p.Ser230Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.244054462T=CA1230659748ZBTB18c.661T= (p.Ser221=)
c.*618T= (n.*618T=)
c.688T= (p.Ser230=)
1g.244054463C>ACA345673470ZBTB18c.662C>A (p.Ser221Tyr)
c.*619C>A (n.*619C>A)
c.689C>A (p.Ser230Tyr)
 gnomAD v4
1g.244054463C>GCA345673471ZBTB18c.662C>G (p.Ser221Cys)
c.*619C>G (n.*619C>G)
c.689C>G (p.Ser230Cys)
1g.244054463C>TCA345673472ZBTB18c.662C>T (p.Ser221Phe)
c.*619C>T (n.*619C>T)
c.689C>T (p.Ser230Phe)
1g.244054464T>ACA424410949ZBTB18c.663T>A (p.Ser221=)
c.*620T>A (n.*620T>A)
c.690T>A (p.Ser230=)
1g.244054464T>CCA424410950ZBTB18c.663T>C (p.Ser221=)
c.*620T>C (n.*620T>C)
c.690T>C (p.Ser230=)
1g.244054464T>GCA424410952ZBTB18c.663T>G (p.Ser221=)
c.*620T>G (n.*620T>G)
c.690T>G (p.Ser230=)
1g.244054465_244054466delCA2580063495ZBTB18c.664_665del (p.Leu222ValfsTer?)
c.664_665del (p.Leu222ValfsTer15)
c.*621_*622del (n.*621_*622del)
c.691_692del (p.Leu231ValfsTer15)
 ClinVar
1g.244054465T>ACA345673473ZBTB18c.664T>A (p.Leu222Met)
c.*621T>A (n.*621T>A)
c.691T>A (p.Leu231Met)
1g.244054465T>CCA424410953ZBTB18c.664T>C (p.Leu222=)
c.*621T>C (n.*621T>C)
c.691T>C (p.Leu231=)
1g.244054465T>GCA345673474ZBTB18c.664T>G (p.Leu222Val)
c.*621T>G (n.*621T>G)
c.691T>G (p.Leu231Val)
1g.244054466T>ACA345673475ZBTB18c.665T>A (p.Leu222Ter)
c.*622T>A (n.*622T>A)
c.692T>A (p.Leu231Ter)
1g.244054466T>CCA345673476ZBTB18c.665T>C (p.Leu222Ser)
c.*622T>C (n.*622T>C)
c.692T>C (p.Leu231Ser)
1g.244054466T>GCA345673477ZBTB18c.665T>G (p.Leu222Trp)
c.*622T>G (n.*622T>G)
c.692T>G (p.Leu231Trp)
1g.244054467G>ACA424410957ZBTB18c.666G>A (p.Leu222=)
c.*623G>A (n.*623G>A)
c.693G>A (p.Leu231=)
1g.244054467G>CCA345673478ZBTB18c.666G>C (p.Leu222Phe)
c.*623G>C (n.*623G>C)
c.693G>C (p.Leu231Phe)
1g.244054467G>TCA345673479ZBTB18c.666G>T (p.Leu222Phe)
c.*623G>T (n.*623G>T)
c.693G>T (p.Leu231Phe)
1g.244054468T>ACA345673482ZBTB18c.667T>A (p.Ser223Thr)
c.*624T>A (n.*624T>A)
c.694T>A (p.Ser232Thr)
1g.244054468T>CCA345673481ZBTB18c.667T>C (p.Ser223Pro)
c.*624T>C (n.*624T>C)
c.694T>C (p.Ser232Pro)
1g.244054468T>GCA345673480ZBTB18c.667T>G (p.Ser223Ala)
c.*624T>G (n.*624T>G)
c.694T>G (p.Ser232Ala)
1g.244054469C>ACA345673483ZBTB18c.668C>A (p.Ser223Tyr)
c.*625C>A (n.*625C>A)
c.695C>A (p.Ser232Tyr)
 gnomAD v4
1g.244054469C>GCA345673484ZBTB18c.668C>G (p.Ser223Cys)
c.*625C>G (n.*625C>G)
c.695C>G (p.Ser232Cys)
1g.244054469C>TCA345673485ZBTB18c.668C>T (p.Ser223Phe)
c.*625C>T (n.*625C>T)
c.695C>T (p.Ser232Phe)
 gnomAD v4
1g.244054470C>ACA424410962ZBTB18c.669C>A (p.Ser223=)
c.*626C>A (n.*626C>A)
c.696C>A (p.Ser232=)
1g.244054470C>GCA424410963ZBTB18c.669C>G (p.Ser223=)
c.*626C>G (n.*626C>G)
c.696C>G (p.Ser232=)
 gnomAD v4
1g.244054470C>TCA424410965ZBTB18c.669C>T (p.Ser223=)
c.*626C>T (n.*626C>T)
c.696C>T (p.Ser232=)
 gnomAD v4
1g.244054471C>ACA345673486ZBTB18c.670C>A (p.Gln224Lys)
c.*627C>A (n.*627C>A)
c.697C>A (p.Gln233Lys)
1g.244054471C>GCA345673487ZBTB18c.670C>G (p.Gln224Glu)
c.*627C>G (n.*627C>G)
c.697C>G (p.Gln233Glu)
1g.244054471C>TCA345673488ZBTB18c.670C>T (p.Gln224Ter)
c.*627C>T (n.*627C>T)
c.697C>T (p.Gln233Ter)
1g.244054472A>CCA345673489ZBTB18c.671A>C (p.Gln224Pro)
c.*628A>C (n.*628A>C)
c.698A>C (p.Gln233Pro)
1g.244054472A>GCA345673490ZBTB18c.671A>G (p.Gln224Arg)
c.*628A>G (n.*628A>G)
c.698A>G (p.Gln233Arg)
1g.244054472A>TCA345673491ZBTB18c.671A>T (p.Gln224Leu)
c.*628A>T (n.*628A>T)
c.698A>T (p.Gln233Leu)
1g.244054473G>ACA424410970ZBTB18c.672G>A (p.Gln224=)
c.*629G>A (n.*629G>A)
c.699G>A (p.Gln233=)
1g.244054473G>CCA345673492ZBTB18c.672G>C (p.Gln224His)
c.*629G>C (n.*629G>C)
c.699G>C (p.Gln233His)
1g.244054473G>TCA345673493ZBTB18c.672G>T (p.Gln224His)
c.*629G>T (n.*629G>T)
c.699G>T (p.Gln233His)

Number of alleles fetched