Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.11750110G>ACA370312899GATA4c.784-1G>A (n.784-1G>A)
c.787-1G>A (n.787-1G>A)
c.166-1G>A (n.166-1G>A)
c.781-1G>A (n.781-1G>A)
c.165+1025G>A (n.165+1025G>A)
8g.11750110G>CCA370312900GATA4c.784-1G>C (n.784-1G>C)
c.787-1G>C (n.787-1G>C)
c.166-1G>C (n.166-1G>C)
c.781-1G>C (n.781-1G>C)
c.165+1025G>C (n.165+1025G>C)
8g.11750110G>TCA370312901GATA4c.784-1G>T (n.784-1G>T)
c.787-1G>T (n.787-1G>T)
c.166-1G>T (n.166-1G>T)
c.781-1G>T (n.781-1G>T)
c.165+1025G>T (n.165+1025G>T)
8g.11750111T>ACA370312904GATA4c.784T>A (p.Ser262Thr)
c.787T>A (p.Ser263Thr)
c.166T>A (p.Ser56Thr)
c.781T>A (p.Ser261Thr)
c.165+1026T>A (n.165+1026T>A)
8g.11750111T>CCA370312903GATA4c.784T>C (p.Ser262Pro)
c.787T>C (p.Ser263Pro)
c.166T>C (p.Ser56Pro)
c.781T>C (p.Ser261Pro)
c.165+1026T>C (n.165+1026T>C)
8g.11750111T>GCA370312902GATA4c.784T>G (p.Ser262Ala)
c.787T>G (p.Ser263Ala)
c.166T>G (p.Ser56Ala)
c.781T>G (p.Ser261Ala)
c.165+1026T>G (n.165+1026T>G)
8g.11750112C>ACA370312906GATA4c.785C>A (p.Ser262Tyr)
c.788C>A (p.Ser263Tyr)
c.167C>A (p.Ser56Tyr)
c.782C>A (p.Ser261Tyr)
c.165+1027C>A (n.165+1027C>A)
8g.11750112C>GCA370312905GATA4c.785C>G (p.Ser262Cys)
c.788C>G (p.Ser263Cys)
c.167C>G (p.Ser56Cys)
c.782C>G (p.Ser261Cys)
c.165+1027C>G (n.165+1027C>G)
8g.11750112C>TCA370312907GATA4c.785C>T (p.Ser262Phe)
c.788C>T (p.Ser263Phe)
c.167C>T (p.Ser56Phe)
c.782C>T (p.Ser261Phe)
c.165+1027C>T (n.165+1027C>T)
8g.11750113C>ACA459311088GATA4c.786C>A (p.Ser262=)
c.789C>A (p.Ser263=)
c.168C>A (p.Ser56=)
c.783C>A (p.Ser261=)
c.165+1028C>A (n.165+1028C>A)
8g.11750113C=CA1764081069GATA4c.786C= (p.Ser262=)
c.789C= (p.Ser263=)
c.168C= (p.Ser56=)
c.783C= (p.Ser261=)
c.165+1028C= (n.165+1028C=)
8g.11750113C>GCA459311085GATA4c.786C>G (p.Ser262=)
c.789C>G (p.Ser263=)
c.168C>G (p.Ser56=)
c.783C>G (p.Ser261=)
c.165+1028C>G (n.165+1028C>G)
8g.11750113C>TCA4630705GATA4c.786C>T (p.Ser262=)
c.789C>T (p.Ser263=)
c.168C>T (p.Ser56=)
c.783C>T (p.Ser261=)
c.165+1028C>T (n.165+1028C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11750114G>ACA172114363GATA4c.787G>A (p.Ala263Thr)
c.790G>A (p.Ala264Thr)
c.169G>A (p.Ala57Thr)
c.784G>A (p.Ala262Thr)
c.165+1029G>A (n.165+1029G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11750114G>CCA370312908GATA4c.787G>C (p.Ala263Pro)
c.790G>C (p.Ala264Pro)
c.169G>C (p.Ala57Pro)
c.784G>C (p.Ala262Pro)
c.165+1029G>C (n.165+1029G>C)
8g.11750114G=CA1764081074GATA4c.787G= (p.Ala263=)
c.790G= (p.Ala264=)
c.169G= (p.Ala57=)
c.784G= (p.Ala262=)
c.165+1029G= (n.165+1029G=)
8g.11750114G>TCA4630706GATA4c.787G>T (p.Ala263Ser)
c.790G>T (p.Ala264Ser)
c.169G>T (p.Ala57Ser)
c.784G>T (p.Ala262Ser)
c.165+1029G>T (n.165+1029G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750115C>ACA370312909GATA4c.788C>A (p.Ala263Asp)
c.791C>A (p.Ala264Asp)
c.170C>A (p.Ala57Asp)
c.785C>A (p.Ala262Asp)
c.165+1030C>A (n.165+1030C>A)
8g.11750115C=CA1764081078GATA4c.788C= (p.Ala263=)
c.791C= (p.Ala264=)
c.170C= (p.Ala57=)
c.785C= (p.Ala262=)
c.165+1030C= (n.165+1030C=)
8g.11750115C>GCA4630707GATA4c.788C>G (p.Ala263Gly)
c.791C>G (p.Ala264Gly)
c.170C>G (p.Ala57Gly)
c.785C>G (p.Ala262Gly)
c.165+1030C>G (n.165+1030C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750115C>TCA370312910GATA4c.788C>T (p.Ala263Val)
c.791C>T (p.Ala264Val)
c.170C>T (p.Ala57Val)
c.785C>T (p.Ala262Val)
c.165+1030C>T (n.165+1030C>T)
 gnomAD v4
8g.11750116C>ACA459311095GATA4c.789C>A (p.Ala263=)
c.792C>A (p.Ala264=)
c.171C>A (p.Ala57=)
c.786C>A (p.Ala262=)
c.165+1031C>A (n.165+1031C>A)
8g.11750116C>GCA459311096GATA4c.789C>G (p.Ala263=)
c.792C>G (p.Ala264=)
c.171C>G (p.Ala57=)
c.786C>G (p.Ala262=)
c.165+1031C>G (n.165+1031C>G)
8g.11750116C>TCA459311098GATA4c.789C>T (p.Ala263=)
c.792C>T (p.Ala264=)
c.171C>T (p.Ala57=)
c.786C>T (p.Ala262=)
c.165+1031C>T (n.165+1031C>T)
8g.11750117T>ACA370312911GATA4c.790T>A (p.Ser264Thr)
c.793T>A (p.Ser265Thr)
c.172T>A (p.Ser58Thr)
c.787T>A (p.Ser263Thr)
c.165+1032T>A (n.165+1032T>A)
8g.11750117T>CCA370312912GATA4c.790T>C (p.Ser264Pro)
c.793T>C (p.Ser265Pro)
c.172T>C (p.Ser58Pro)
c.787T>C (p.Ser263Pro)
c.165+1032T>C (n.165+1032T>C)
8g.11750117T>GCA370312913GATA4c.790T>G (p.Ser264Ala)
c.793T>G (p.Ser265Ala)
c.172T>G (p.Ser58Ala)
c.787T>G (p.Ser263Ala)
c.165+1032T>G (n.165+1032T>G)
8g.11750118C>ACA370312914GATA4c.791C>A (p.Ser264Tyr)
c.794C>A (p.Ser265Tyr)
c.173C>A (p.Ser58Tyr)
c.788C>A (p.Ser263Tyr)
c.165+1033C>A (n.165+1033C>A)
8g.11750118C=CA1764081080GATA4c.791C= (p.Ser264=)
c.794C= (p.Ser265=)
c.173C= (p.Ser58=)
c.788C= (p.Ser263=)
c.165+1033C= (n.165+1033C=)
8g.11750118C>GCA370312915GATA4c.791C>G (p.Ser264Cys)
c.794C>G (p.Ser265Cys)
c.173C>G (p.Ser58Cys)
c.788C>G (p.Ser263Cys)
c.165+1033C>G (n.165+1033C>G)
 ClinVar dbSNP gnomAD v4
8g.11750118C>TCA370312916GATA4c.791C>T (p.Ser264Phe)
c.794C>T (p.Ser265Phe)
c.173C>T (p.Ser58Phe)
c.788C>T (p.Ser263Phe)
c.165+1033C>T (n.165+1033C>T)
8g.11750119C>ACA459311105GATA4c.792C>A (p.Ser264=)
c.795C>A (p.Ser265=)
c.174C>A (p.Ser58=)
c.789C>A (p.Ser263=)
c.165+1034C>A (n.165+1034C>A)
8g.11750119C>GCA459311109GATA4c.792C>G (p.Ser264=)
c.795C>G (p.Ser265=)
c.174C>G (p.Ser58=)
c.789C>G (p.Ser263=)
c.165+1034C>G (n.165+1034C>G)
8g.11750119C>TCA459311107GATA4c.792C>T (p.Ser264=)
c.795C>T (p.Ser265=)
c.174C>T (p.Ser58=)
c.789C>T (p.Ser263=)
c.165+1034C>T (n.165+1034C>T)
 gnomAD v4
8g.11750120C>ACA370312918GATA4c.793C>A (p.Arg265Ser)
c.796C>A (p.Arg266Ser)
c.175C>A (p.Arg59Ser)
c.790C>A (p.Arg264Ser)
c.165+1035C>A (n.165+1035C>A)
8g.11750120C=CA1764081089GATA4c.793C= (p.Arg265=)
c.796C= (p.Arg266=)
c.175C= (p.Arg59=)
c.790C= (p.Arg264=)
c.165+1035C= (n.165+1035C=)
8g.11750120C>GCA370312917GATA4c.793C>G (p.Arg265Gly)
c.796C>G (p.Arg266Gly)
c.175C>G (p.Arg59Gly)
c.790C>G (p.Arg264Gly)
c.165+1035C>G (n.165+1035C>G)
 gnomAD v4
8g.11750120C>TCA4630708GATA4c.793C>T (p.Arg265Cys)
c.796C>T (p.Arg266Cys)
c.175C>T (p.Arg59Cys)
c.790C>T (p.Arg264Cys)
c.165+1035C>T (n.165+1035C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750121G>ACA4630709GATA4c.794G>A (p.Arg265His)
c.797G>A (p.Arg266His)
c.176G>A (p.Arg59His)
c.791G>A (p.Arg264His)
c.165+1036G>A (n.165+1036G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.11750121G>CCA370312919GATA4c.794G>C (p.Arg265Pro)
c.797G>C (p.Arg266Pro)
c.176G>C (p.Arg59Pro)
c.791G>C (p.Arg264Pro)
c.165+1036G>C (n.165+1036G>C)
8g.11750121G=CA1764081092GATA4c.794G= (p.Arg265=)
c.797G= (p.Arg266=)
c.176G= (p.Arg59=)
c.791G= (p.Arg264=)
c.165+1036G= (n.165+1036G=)
8g.11750121G>TCA370312920GATA4c.794G>T (p.Arg265Leu)
c.797G>T (p.Arg266Leu)
c.176G>T (p.Arg59Leu)
c.791G>T (p.Arg264Leu)
c.165+1036G>T (n.165+1036G>T)
8g.11750122C>ACA459311115GATA4c.795C>A (p.Arg265=)
c.798C>A (p.Arg266=)
c.177C>A (p.Arg59=)
c.792C>A (p.Arg264=)
c.165+1037C>A (n.165+1037C>A)
8g.11750122C>GCA459311116GATA4c.795C>G (p.Arg265=)
c.798C>G (p.Arg266=)
c.177C>G (p.Arg59=)
c.792C>G (p.Arg264=)
c.165+1037C>G (n.165+1037C>G)
 gnomAD v4
8g.11750122C>TCA459311118GATA4c.795C>T (p.Arg265=)
c.798C>T (p.Arg266=)
c.177C>T (p.Arg59=)
c.792C>T (p.Arg264=)
c.165+1037C>T (n.165+1037C>T)
8g.11750123C>ACA459311120GATA4c.796C>A (p.Arg266=)
c.799C>A (p.Arg267=)
c.178C>A (p.Arg60=)
c.793C>A (p.Arg265=)
c.165+1038C>A (n.165+1038C>A)
8g.11750123C>GCA370312921GATA4c.796C>G (p.Arg266Gly)
c.799C>G (p.Arg267Gly)
c.178C>G (p.Arg60Gly)
c.793C>G (p.Arg265Gly)
c.165+1038C>G (n.165+1038C>G)
8g.11750123C>TCA370312922GATA4c.796C>T (p.Arg266Ter)
c.799C>T (p.Arg267Ter)
c.178C>T (p.Arg60Ter)
c.793C>T (p.Arg265Ter)
c.165+1038C>T (n.165+1038C>T)
 ClinVar COSMIC
8g.11750124G>ACA370312923GATA4c.797G>A (p.Arg266Gln)
c.800G>A (p.Arg267Gln)
c.179G>A (p.Arg60Gln)
c.794G>A (p.Arg265Gln)
c.165+1039G>A (n.165+1039G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11750124G>CCA370312924GATA4c.797G>C (p.Arg266Pro)
c.800G>C (p.Arg267Pro)
c.179G>C (p.Arg60Pro)
c.794G>C (p.Arg265Pro)
c.165+1039G>C (n.165+1039G>C)
8g.11750124G=CA1764081095GATA4c.797G= (p.Arg266=)
c.800G= (p.Arg267=)
c.179G= (p.Arg60=)
c.794G= (p.Arg265=)
c.165+1039G= (n.165+1039G=)
8g.11750124G>TCA370312925GATA4c.797G>T (p.Arg266Leu)
c.800G>T (p.Arg267Leu)
c.179G>T (p.Arg60Leu)
c.794G>T (p.Arg265Leu)
c.165+1039G>T (n.165+1039G>T)
8g.11750125A>CCA459311127GATA4c.798A>C (p.Arg266=)
c.801A>C (p.Arg267=)
c.180A>C (p.Arg60=)
c.795A>C (p.Arg265=)
c.165+1040A>C (n.165+1040A>C)
8g.11750125A>GCA459311129GATA4c.798A>G (p.Arg266=)
c.801A>G (p.Arg267=)
c.180A>G (p.Arg60=)
c.795A>G (p.Arg265=)
c.165+1040A>G (n.165+1040A>G)
8g.11750125A>TCA459311130GATA4c.798A>T (p.Arg266=)
c.801A>T (p.Arg267=)
c.180A>T (p.Arg60=)
c.795A>T (p.Arg265=)
c.165+1040A>T (n.165+1040A>T)
 gnomAD v4
8g.11750126G>ACA4630710GATA4c.799G>A (p.Val267Met)
c.802G>A (p.Val268Met)
c.181G>A (p.Val61Met)
c.796G>A (p.Val266Met)
c.165+1041G>A (n.165+1041G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750126G>CCA370312926GATA4c.799G>C (p.Val267Leu)
c.802G>C (p.Val268Leu)
c.181G>C (p.Val61Leu)
c.796G>C (p.Val266Leu)
c.165+1041G>C (n.165+1041G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750126G=CA1764081102GATA4c.799G= (p.Val267=)
c.802G= (p.Val268=)
c.181G= (p.Val61=)
c.796G= (p.Val266=)
c.165+1041G= (n.165+1041G=)
8g.11750126G>TCA370312927GATA4c.799G>T (p.Val267Leu)
c.802G>T (p.Val268Leu)
c.181G>T (p.Val61Leu)
c.796G>T (p.Val266Leu)
c.165+1041G>T (n.165+1041G>T)
8g.11750127T>ACA370312930GATA4c.800T>A (p.Val267Glu)
c.803T>A (p.Val268Glu)
c.182T>A (p.Val61Glu)
c.797T>A (p.Val266Glu)
c.165+1042T>A (n.165+1042T>A)
8g.11750127T>CCA370312929GATA4c.800T>C (p.Val267Ala)
c.803T>C (p.Val268Ala)
c.182T>C (p.Val61Ala)
c.797T>C (p.Val266Ala)
c.165+1042T>C (n.165+1042T>C)
 gnomAD v4
8g.11750127T>GCA370312928GATA4c.800T>G (p.Val267Gly)
c.803T>G (p.Val268Gly)
c.182T>G (p.Val61Gly)
c.797T>G (p.Val266Gly)
c.165+1042T>G (n.165+1042T>G)
 gnomAD v4
8g.11750128G>ACA4630711GATA4c.801G>A (p.Val267=)
c.804G>A (p.Val268=)
c.183G>A (p.Val61=)
c.798G>A (p.Val266=)
c.165+1043G>A (n.165+1043G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750128G>CCA459311135GATA4c.801G>C (p.Val267=)
c.804G>C (p.Val268=)
c.183G>C (p.Val61=)
c.798G>C (p.Val266=)
c.165+1043G>C (n.165+1043G>C)
8g.11750128G=CA1764081110GATA4c.801G= (p.Val267=)
c.804G= (p.Val268=)
c.183G= (p.Val61=)
c.798G= (p.Val266=)
c.165+1043G= (n.165+1043G=)
8g.11750128G>TCA459311136GATA4c.801G>T (p.Val267=)
c.804G>T (p.Val268=)
c.183G>T (p.Val61=)
c.798G>T (p.Val266=)
c.165+1043G>T (n.165+1043G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.11750129G>ACA370312931GATA4c.802G>A (p.Gly268Ser)
c.805G>A (p.Gly269Ser)
c.184G>A (p.Gly62Ser)
c.799G>A (p.Gly267Ser)
c.165+1044G>A (n.165+1044G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.11750129G>CCA370312932GATA4c.802G>C (p.Gly268Arg)
c.805G>C (p.Gly269Arg)
c.184G>C (p.Gly62Arg)
c.799G>C (p.Gly267Arg)
c.165+1044G>C (n.165+1044G>C)
8g.11750129G=CA1764081114GATA4c.802G= (p.Gly268=)
c.805G= (p.Gly269=)
c.184G= (p.Gly62=)
c.799G= (p.Gly267=)
c.165+1044G= (n.165+1044G=)
8g.11750129G>TCA370312933GATA4c.802G>T (p.Gly268Cys)
c.805G>T (p.Gly269Cys)
c.184G>T (p.Gly62Cys)
c.799G>T (p.Gly267Cys)
c.165+1044G>T (n.165+1044G>T)
8g.11750130G>ACA370312934GATA4c.803G>A (p.Gly268Asp)
c.806G>A (p.Gly269Asp)
c.185G>A (p.Gly62Asp)
c.800G>A (p.Gly267Asp)
c.165+1045G>A (n.165+1045G>A)
 dbSNP
8g.11750130G>CCA370312935GATA4c.803G>C (p.Gly268Ala)
c.806G>C (p.Gly269Ala)
c.185G>C (p.Gly62Ala)
c.800G>C (p.Gly267Ala)
c.165+1045G>C (n.165+1045G>C)
8g.11750130G=CA1764081119GATA4c.803G= (p.Gly268=)
c.806G= (p.Gly269=)
c.185G= (p.Gly62=)
c.800G= (p.Gly267=)
c.165+1045G= (n.165+1045G=)
8g.11750130G>TCA370312936GATA4c.803G>T (p.Gly268Val)
c.806G>T (p.Gly269Val)
c.185G>T (p.Gly62Val)
c.800G>T (p.Gly267Val)
c.165+1045G>T (n.165+1045G>T)
8g.11750131C>ACA459311139GATA4c.804C>A (p.Gly268=)
c.807C>A (p.Gly269=)
c.186C>A (p.Gly62=)
c.801C>A (p.Gly267=)
c.165+1046C>A (n.165+1046C>A)
8g.11750131C=CA1764081121GATA4c.804C= (p.Gly268=)
c.807C= (p.Gly269=)
c.186C= (p.Gly62=)
c.801C= (p.Gly267=)
c.165+1046C= (n.165+1046C=)
8g.11750131C>GCA459311140GATA4c.804C>G (p.Gly268=)
c.807C>G (p.Gly269=)
c.186C>G (p.Gly62=)
c.801C>G (p.Gly267=)
c.165+1046C>G (n.165+1046C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750131C>TCA459311141GATA4c.804C>T (p.Gly268=)
c.807C>T (p.Gly269=)
c.186C>T (p.Gly62=)
c.801C>T (p.Gly267=)
c.165+1046C>T (n.165+1046C>T)
 gnomAD v4
8g.11750132C>ACA370312937GATA4c.805C>A (p.Leu269Ile)
c.808C>A (p.Leu270Ile)
c.187C>A (p.Leu63Ile)
c.802C>A (p.Leu268Ile)
c.165+1047C>A (n.165+1047C>A)
8g.11750132C>GCA370312939GATA4c.805C>G (p.Leu269Val)
c.808C>G (p.Leu270Val)
c.187C>G (p.Leu63Val)
c.802C>G (p.Leu268Val)
c.165+1047C>G (n.165+1047C>G)
8g.11750132C>TCA370312938GATA4c.805C>T (p.Leu269Phe)
c.808C>T (p.Leu270Phe)
c.187C>T (p.Leu63Phe)
c.802C>T (p.Leu268Phe)
c.165+1047C>T (n.165+1047C>T)
 gnomAD v4
8g.11750133T>ACA370312940GATA4c.806T>A (p.Leu269His)
c.809T>A (p.Leu270His)
c.188T>A (p.Leu63His)
c.803T>A (p.Leu268His)
c.165+1048T>A (n.165+1048T>A)
8g.11750133T>CCA370312941GATA4c.806T>C (p.Leu269Pro)
c.809T>C (p.Leu270Pro)
c.188T>C (p.Leu63Pro)
c.803T>C (p.Leu268Pro)
c.165+1048T>C (n.165+1048T>C)
8g.11750133T>GCA370312942GATA4c.806T>G (p.Leu269Arg)
c.809T>G (p.Leu270Arg)
c.188T>G (p.Leu63Arg)
c.803T>G (p.Leu268Arg)
c.165+1048T>G (n.165+1048T>G)
8g.11750134C>ACA459311147GATA4c.807C>A (p.Leu269=)
c.810C>A (p.Leu270=)
c.189C>A (p.Leu63=)
c.804C>A (p.Leu268=)
c.165+1049C>A (n.165+1049C>A)
8g.11750134C=CA1764081123GATA4c.807C= (p.Leu269=)
c.810C= (p.Leu270=)
c.189C= (p.Leu63=)
c.804C= (p.Leu268=)
c.165+1049C= (n.165+1049C=)
8g.11750134C>GCA4630712GATA4c.807C>G (p.Leu269=)
c.810C>G (p.Leu270=)
c.189C>G (p.Leu63=)
c.804C>G (p.Leu268=)
c.165+1049C>G (n.165+1049C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750134C>TCA459311150GATA4c.807C>T (p.Leu269=)
c.810C>T (p.Leu270=)
c.189C>T (p.Leu63=)
c.804C>T (p.Leu268=)
c.165+1049C>T (n.165+1049C>T)
8g.11750135T>ACA370312943GATA4c.808T>A (p.Ser270Thr)
c.811T>A (p.Ser271Thr)
c.190T>A (p.Ser64Thr)
c.805T>A (p.Ser269Thr)
c.165+1050T>A (n.165+1050T>A)
8g.11750135T>CCA370312945GATA4c.808T>C (p.Ser270Pro)
c.811T>C (p.Ser271Pro)
c.190T>C (p.Ser64Pro)
c.805T>C (p.Ser269Pro)
c.165+1050T>C (n.165+1050T>C)
8g.11750135T>GCA370312944GATA4c.808T>G (p.Ser270Ala)
c.811T>G (p.Ser271Ala)
c.190T>G (p.Ser64Ala)
c.805T>G (p.Ser269Ala)
c.165+1050T>G (n.165+1050T>G)
8g.11750136C>ACA370312946GATA4c.809C>A (p.Ser270Tyr)
c.812C>A (p.Ser271Tyr)
c.191C>A (p.Ser64Tyr)
c.806C>A (p.Ser269Tyr)
c.165+1051C>A (n.165+1051C>A)
8g.11750136C=CA1764081127GATA4c.809C= (p.Ser270=)
c.812C= (p.Ser271=)
c.191C= (p.Ser64=)
c.806C= (p.Ser269=)
c.165+1051C= (n.165+1051C=)
8g.11750136C>GCA370312947GATA4c.809C>G (p.Ser270Cys)
c.812C>G (p.Ser271Cys)
c.191C>G (p.Ser64Cys)
c.806C>G (p.Ser269Cys)
c.165+1051C>G (n.165+1051C>G)
8g.11750136C>TCA370312948GATA4c.809C>T (p.Ser270Phe)
c.812C>T (p.Ser271Phe)
c.191C>T (p.Ser64Phe)
c.806C>T (p.Ser269Phe)
c.165+1051C>T (n.165+1051C>T)
 dbSNP
8g.11750137C>ACA459311161GATA4c.810C>A (p.Ser270=)
c.813C>A (p.Ser271=)
c.192C>A (p.Ser64=)
c.807C>A (p.Ser269=)
c.165+1052C>A (n.165+1052C>A)
 gnomAD v4
8g.11750137C>GCA459311162GATA4c.810C>G (p.Ser270=)
c.813C>G (p.Ser271=)
c.192C>G (p.Ser64=)
c.807C>G (p.Ser269=)
c.165+1052C>G (n.165+1052C>G)
 COSMIC
8g.11750137C>TCA459311164GATA4c.810C>T (p.Ser270=)
c.813C>T (p.Ser271=)
c.192C>T (p.Ser64=)
c.807C>T (p.Ser269=)
c.165+1052C>T (n.165+1052C>T)
 COSMIC
8g.11750138T>ACA370312949GATA4c.811T>A (p.Cys271Ser)
c.814T>A (p.Cys272Ser)
c.193T>A (p.Cys65Ser)
c.808T>A (p.Cys270Ser)
c.165+1053T>A (n.165+1053T>A)
8g.11750138T>CCA370312950GATA4c.811T>C (p.Cys271Arg)
c.814T>C (p.Cys272Arg)
c.193T>C (p.Cys65Arg)
c.808T>C (p.Cys270Arg)
c.165+1053T>C (n.165+1053T>C)
8g.11750138T>GCA370312951GATA4c.811T>G (p.Cys271Gly)
c.814T>G (p.Cys272Gly)
c.193T>G (p.Cys65Gly)
c.808T>G (p.Cys270Gly)
c.165+1053T>G (n.165+1053T>G)
8g.11750139G>ACA370312952GATA4c.812G>A (p.Cys271Tyr)
c.815G>A (p.Cys272Tyr)
c.194G>A (p.Cys65Tyr)
c.809G>A (p.Cys270Tyr)
c.165+1054G>A (n.165+1054G>A)
8g.11750139G>CCA370312953GATA4c.812G>C (p.Cys271Ser)
c.815G>C (p.Cys272Ser)
c.194G>C (p.Cys65Ser)
c.809G>C (p.Cys270Ser)
c.165+1054G>C (n.165+1054G>C)
8g.11750139G>TCA370312954GATA4c.812G>T (p.Cys271Phe)
c.815G>T (p.Cys272Phe)
c.194G>T (p.Cys65Phe)
c.809G>T (p.Cys270Phe)
c.165+1054G>T (n.165+1054G>T)
8g.11750140T>ACA370312955GATA4c.813T>A (p.Cys271Ter)
c.816T>A (p.Cys272Ter)
c.195T>A (p.Cys65Ter)
c.810T>A (p.Cys270Ter)
c.165+1055T>A (n.165+1055T>A)
8g.11750140T>CCA459311169GATA4c.813T>C (p.Cys271=)
c.816T>C (p.Cys272=)
c.195T>C (p.Cys65=)
c.810T>C (p.Cys270=)
c.165+1055T>C (n.165+1055T>C)
8g.11750140T>GCA370312956GATA4c.813T>G (p.Cys271Trp)
c.816T>G (p.Cys272Trp)
c.195T>G (p.Cys65Trp)
c.810T>G (p.Cys270Trp)
c.165+1055T>G (n.165+1055T>G)
8g.11750141G>ACA370312958GATA4c.814G>A (p.Ala272Thr)
c.817G>A (p.Ala273Thr)
c.196G>A (p.Ala66Thr)
c.811G>A (p.Ala271Thr)
c.165+1056G>A (n.165+1056G>A)
8g.11750141G>CCA370312959GATA4c.814G>C (p.Ala272Pro)
c.817G>C (p.Ala273Pro)
c.196G>C (p.Ala66Pro)
c.811G>C (p.Ala271Pro)
c.165+1056G>C (n.165+1056G>C)
8g.11750141G>TCA370312957GATA4c.814G>T (p.Ala272Ser)
c.817G>T (p.Ala273Ser)
c.196G>T (p.Ala66Ser)
c.811G>T (p.Ala271Ser)
c.165+1056G>T (n.165+1056G>T)
8g.11750142C>ACA370312960GATA4c.815C>A (p.Ala272Asp)
c.818C>A (p.Ala273Asp)
c.197C>A (p.Ala66Asp)
c.812C>A (p.Ala271Asp)
c.165+1057C>A (n.165+1057C>A)
8g.11750142C>GCA370312962GATA4c.815C>G (p.Ala272Gly)
c.818C>G (p.Ala273Gly)
c.197C>G (p.Ala66Gly)
c.812C>G (p.Ala271Gly)
c.165+1057C>G (n.165+1057C>G)
8g.11750142C>TCA370312961GATA4c.815C>T (p.Ala272Val)
c.818C>T (p.Ala273Val)
c.197C>T (p.Ala66Val)
c.812C>T (p.Ala271Val)
c.165+1057C>T (n.165+1057C>T)
 gnomAD v4
8g.11750143C>ACA459311175GATA4c.816C>A (p.Ala272=)
c.819C>A (p.Ala273=)
c.198C>A (p.Ala66=)
c.813C>A (p.Ala271=)
c.165+1058C>A (n.165+1058C>A)
8g.11750143C>GCA459311177GATA4c.816C>G (p.Ala272=)
c.819C>G (p.Ala273=)
c.198C>G (p.Ala66=)
c.813C>G (p.Ala271=)
c.165+1058C>G (n.165+1058C>G)
8g.11750143C>TCA459311180GATA4c.816C>T (p.Ala272=)
c.819C>T (p.Ala273=)
c.198C>T (p.Ala66=)
c.813C>T (p.Ala271=)
c.165+1058C>T (n.165+1058C>T)
8g.11750144A>CCA370312963GATA4c.817A>C (p.Asn273His)
c.820A>C (p.Asn274His)
c.199A>C (p.Asn67His)
c.814A>C (p.Asn272His)
c.165+1059A>C (n.165+1059A>C)
8g.11750144A>GCA370312965GATA4c.817A>G (p.Asn273Asp)
c.820A>G (p.Asn274Asp)
c.199A>G (p.Asn67Asp)
c.814A>G (p.Asn272Asp)
c.165+1059A>G (n.165+1059A>G)
8g.11750144A>TCA370312964GATA4c.817A>T (p.Asn273Tyr)
c.820A>T (p.Asn274Tyr)
c.199A>T (p.Asn67Tyr)
c.814A>T (p.Asn272Tyr)
c.165+1059A>T (n.165+1059A>T)
8g.11750145A=CA1764081129GATA4c.818A= (p.Asn273=)
c.821A= (p.Asn274=)
c.200A= (p.Asn67=)
c.815A= (p.Asn272=)
c.165+1060A= (n.165+1060A=)
8g.11750145A>CCA370312966GATA4c.818A>C (p.Asn273Thr)
c.821A>C (p.Asn274Thr)
c.200A>C (p.Asn67Thr)
c.815A>C (p.Asn272Thr)
c.165+1060A>C (n.165+1060A>C)
8g.11750145A>GCA370312967GATA4c.818A>G (p.Asn273Ser)
c.821A>G (p.Asn274Ser)
c.200A>G (p.Asn67Ser)
c.815A>G (p.Asn272Ser)
c.165+1060A>G (n.165+1060A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750145A>TCA370312968GATA4c.818A>T (p.Asn273Ile)
c.821A>T (p.Asn274Ile)
c.200A>T (p.Asn67Ile)
c.815A>T (p.Asn272Ile)
c.165+1060A>T (n.165+1060A>T)
8g.11750146C>ACA370312969GATA4c.819C>A (p.Asn273Lys)
c.822C>A (p.Asn274Lys)
c.201C>A (p.Asn67Lys)
c.816C>A (p.Asn272Lys)
c.165+1061C>A (n.165+1061C>A)
8g.11750146C>GCA370312970GATA4c.819C>G (p.Asn273Lys)
c.822C>G (p.Asn274Lys)
c.201C>G (p.Asn67Lys)
c.816C>G (p.Asn272Lys)
c.165+1061C>G (n.165+1061C>G)
8g.11750146C>TCA459311193GATA4c.819C>T (p.Asn273=)
c.822C>T (p.Asn274=)
c.201C>T (p.Asn67=)
c.816C>T (p.Asn272=)
c.165+1061C>T (n.165+1061C>T)
8g.11750147T>ACA370312971GATA4c.820T>A (p.Cys274Ser)
c.823T>A (p.Cys275Ser)
c.202T>A (p.Cys68Ser)
c.817T>A (p.Cys273Ser)
c.165+1062T>A (n.165+1062T>A)
8g.11750147T>CCA370312972GATA4c.820T>C (p.Cys274Arg)
c.823T>C (p.Cys275Arg)
c.202T>C (p.Cys68Arg)
c.817T>C (p.Cys273Arg)
c.165+1062T>C (n.165+1062T>C)
8g.11750147T>GCA370312973GATA4c.820T>G (p.Cys274Gly)
c.823T>G (p.Cys275Gly)
c.202T>G (p.Cys68Gly)
c.817T>G (p.Cys273Gly)
c.165+1062T>G (n.165+1062T>G)
8g.11750148G>ACA370312974GATA4c.821G>A (p.Cys274Tyr)
c.824G>A (p.Cys275Tyr)
c.203G>A (p.Cys68Tyr)
c.818G>A (p.Cys273Tyr)
c.165+1063G>A (n.165+1063G>A)
8g.11750148G>CCA370312975GATA4c.821G>C (p.Cys274Ser)
c.824G>C (p.Cys275Ser)
c.203G>C (p.Cys68Ser)
c.818G>C (p.Cys273Ser)
c.165+1063G>C (n.165+1063G>C)
8g.11750148G>TCA370312976GATA4c.821G>T (p.Cys274Phe)
c.824G>T (p.Cys275Phe)
c.203G>T (p.Cys68Phe)
c.818G>T (p.Cys273Phe)
c.165+1063G>T (n.165+1063G>T)
 COSMIC
8g.11750149C>ACA370312978GATA4c.822C>A (p.Cys274Ter)
c.825C>A (p.Cys275Ter)
c.204C>A (p.Cys68Ter)
c.819C>A (p.Cys273Ter)
c.165+1064C>A (n.165+1064C>A)
8g.11750149C=CA1764081135GATA4c.822C= (p.Cys274=)
c.825C= (p.Cys275=)
c.204C= (p.Cys68=)
c.819C= (p.Cys273=)
c.165+1064C= (n.165+1064C=)
8g.11750149C>GCA370312977GATA4c.822C>G (p.Cys274Trp)
c.825C>G (p.Cys275Trp)
c.204C>G (p.Cys68Trp)
c.819C>G (p.Cys273Trp)
c.165+1064C>G (n.165+1064C>G)
8g.11750149C>TCA133997GATA4c.822C>T (p.Cys274=)
c.825C>T (p.Cys275=)
c.204C>T (p.Cys68=)
c.819C>T (p.Cys273=)
c.165+1064C>T (n.165+1064C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750150C>ACA370312979GATA4c.823C>A (p.Gln275Lys)
c.826C>A (p.Gln276Lys)
c.205C>A (p.Gln69Lys)
c.820C>A (p.Gln274Lys)
c.165+1065C>A (n.165+1065C>A)
8g.11750150C>GCA370312980GATA4c.823C>G (p.Gln275Glu)
c.826C>G (p.Gln276Glu)
c.205C>G (p.Gln69Glu)
c.820C>G (p.Gln274Glu)
c.165+1065C>G (n.165+1065C>G)
8g.11750150C>TCA370312981GATA4c.823C>T (p.Gln275Ter)
c.826C>T (p.Gln276Ter)
c.205C>T (p.Gln69Ter)
c.820C>T (p.Gln274Ter)
c.165+1065C>T (n.165+1065C>T)
8g.11750151A=CA1764081140GATA4c.824A= (p.Gln275=)
c.827A= (p.Gln276=)
c.206A= (p.Gln69=)
c.821A= (p.Gln274=)
c.165+1066A= (n.165+1066A=)
8g.11750151A>CCA370312982GATA4c.824A>C (p.Gln275Pro)
c.827A>C (p.Gln276Pro)
c.206A>C (p.Gln69Pro)
c.821A>C (p.Gln274Pro)
c.165+1066A>C (n.165+1066A>C)
8g.11750151A>GCA4630713GATA4c.824A>G (p.Gln275Arg)
c.827A>G (p.Gln276Arg)
c.206A>G (p.Gln69Arg)
c.821A>G (p.Gln274Arg)
c.165+1066A>G (n.165+1066A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750151A>TCA370312983GATA4c.824A>T (p.Gln275Leu)
c.827A>T (p.Gln276Leu)
c.206A>T (p.Gln69Leu)
c.821A>T (p.Gln274Leu)
c.165+1066A>T (n.165+1066A>T)
8g.11750152G>ACA459311210GATA4c.825G>A (p.Gln275=)
c.828G>A (p.Gln276=)
c.207G>A (p.Gln69=)
c.822G>A (p.Gln274=)
c.165+1067G>A (n.165+1067G>A)
8g.11750152G>CCA370312984GATA4c.825G>C (p.Gln275His)
c.828G>C (p.Gln276His)
c.207G>C (p.Gln69His)
c.822G>C (p.Gln274His)
c.165+1067G>C (n.165+1067G>C)
8g.11750152G=CA1764081147GATA4c.825G= (p.Gln275=)
c.828G= (p.Gln276=)
c.207G= (p.Gln69=)
c.822G= (p.Gln274=)
c.165+1067G= (n.165+1067G=)
8g.11750152G>TCA172114395GATA4c.825G>T (p.Gln275His)
c.828G>T (p.Gln276His)
c.207G>T (p.Gln69His)
c.822G>T (p.Gln274His)
c.165+1067G>T (n.165+1067G>T)
 dbSNP
8g.11750152_11750155delinsGACCCA1764081146GATA4c.825_828delinsGACC (p.Gln275=)
c.828_831delinsGACC (p.Gln276=)
c.207_210delinsGACC (p.Gln69=)
c.822_825delinsGACC (p.Gln274=)
c.165+1067_165+1070delinsGACC (n.165+1067_165+1070delinsGACC)
8g.11750153A>CCA370312985GATA4c.826A>C (p.Thr276Pro)
c.829A>C (p.Thr277Pro)
c.208A>C (p.Thr70Pro)
c.823A>C (p.Thr275Pro)
c.165+1068A>C (n.165+1068A>C)
8g.11750153A>GCA370312986GATA4c.826A>G (p.Thr276Ala)
c.829A>G (p.Thr277Ala)
c.208A>G (p.Thr70Ala)
c.823A>G (p.Thr275Ala)
c.165+1068A>G (n.165+1068A>G)
 gnomAD v4
8g.11750153A>TCA370312987GATA4c.826A>T (p.Thr276Ser)
c.829A>T (p.Thr277Ser)
c.208A>T (p.Thr70Ser)
c.823A>T (p.Thr275Ser)
c.165+1068A>T (n.165+1068A>T)
8g.11750164_11750166delCA459311217GATA4c.837_839del (p.Thr280del)
c.840_842del (p.Thr281del)
c.219_221del (p.Thr74del)
c.834_836del (p.Thr279del)
c.165+1079_165+1081del (n.165+1079_165+1081del)
 dbSNP gnomAD v2 gnomAD v4
8g.11750154C>ACA370312990GATA4c.827C>A (p.Thr276Asn)
c.830C>A (p.Thr277Asn)
c.209C>A (p.Thr70Asn)
c.824C>A (p.Thr275Asn)
c.165+1069C>A (n.165+1069C>A)
8g.11750154C=CA1764081151GATA4c.827C= (p.Thr276=)
c.830C= (p.Thr277=)
c.209C= (p.Thr70=)
c.824C= (p.Thr275=)
c.165+1069C= (n.165+1069C=)
8g.11750154C>GCA370312989GATA4c.827C>G (p.Thr276Ser)
c.830C>G (p.Thr277Ser)
c.209C>G (p.Thr70Ser)
c.824C>G (p.Thr275Ser)
c.165+1069C>G (n.165+1069C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11750154C>TCA370312988GATA4c.827C>T (p.Thr276Ile)
c.830C>T (p.Thr277Ile)
c.209C>T (p.Thr70Ile)
c.824C>T (p.Thr275Ile)
c.165+1069C>T (n.165+1069C>T)
 dbSNP
8g.11750155C>ACA459311220GATA4c.828C>A (p.Thr276=)
c.831C>A (p.Thr277=)
c.210C>A (p.Thr70=)
c.825C>A (p.Thr275=)
c.165+1070C>A (n.165+1070C>A)
 COSMIC
8g.11750155C>GCA459311219GATA4c.828C>G (p.Thr276=)
c.831C>G (p.Thr277=)
c.210C>G (p.Thr70=)
c.825C>G (p.Thr275=)
c.165+1070C>G (n.165+1070C>G)
 gnomAD v4
8g.11750155C>TCA459311218GATA4c.828C>T (p.Thr276=)
c.831C>T (p.Thr277=)
c.210C>T (p.Thr70=)
c.825C>T (p.Thr275=)
c.165+1070C>T (n.165+1070C>T)
 gnomAD v4
8g.11750156A=CA1764081153GATA4c.829A= (p.Thr277=)
c.832A= (p.Thr278=)
c.211A= (p.Thr71=)
c.826A= (p.Thr276=)
c.165+1071A= (n.165+1071A=)
8g.11750156A>CCA4630714GATA4c.829A>C (p.Thr277Pro)
c.832A>C (p.Thr278Pro)
c.211A>C (p.Thr71Pro)
c.826A>C (p.Thr276Pro)
c.165+1071A>C (n.165+1071A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750156A>GCA370312991GATA4c.829A>G (p.Thr277Ala)
c.832A>G (p.Thr278Ala)
c.211A>G (p.Thr71Ala)
c.826A>G (p.Thr276Ala)
c.165+1071A>G (n.165+1071A>G)
 ClinVar
8g.11750156A>TCA370312992GATA4c.829A>T (p.Thr277Ser)
c.832A>T (p.Thr278Ser)
c.211A>T (p.Thr71Ser)
c.826A>T (p.Thr276Ser)
c.165+1071A>T (n.165+1071A>T)
 dbSNP gnomAD v3 gnomAD v4
8g.11750157C>ACA370312993GATA4c.830C>A (p.Thr277Asn)
c.833C>A (p.Thr278Asn)
c.212C>A (p.Thr71Asn)
c.827C>A (p.Thr276Asn)
c.165+1072C>A (n.165+1072C>A)
8g.11750157C=CA1764081157GATA4c.830C= (p.Thr277=)
c.833C= (p.Thr278=)
c.212C= (p.Thr71=)
c.827C= (p.Thr276=)
c.165+1072C= (n.165+1072C=)
8g.11750157C>GCA370312994GATA4c.830C>G (p.Thr277Ser)
c.833C>G (p.Thr278Ser)
c.212C>G (p.Thr71Ser)
c.827C>G (p.Thr276Ser)
c.165+1072C>G (n.165+1072C>G)
 dbSNP
8g.11750157C>TCA370312995GATA4c.830C>T (p.Thr277Ile)
c.833C>T (p.Thr278Ile)
c.212C>T (p.Thr71Ile)
c.827C>T (p.Thr276Ile)
c.165+1072C>T (n.165+1072C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.11750158C>ACA459311224GATA4c.831C>A (p.Thr277=)
c.834C>A (p.Thr278=)
c.213C>A (p.Thr71=)
c.828C>A (p.Thr276=)
c.165+1073C>A (n.165+1073C>A)
8g.11750158C>GCA459311226GATA4c.831C>G (p.Thr277=)
c.834C>G (p.Thr278=)
c.213C>G (p.Thr71=)
c.828C>G (p.Thr276=)
c.165+1073C>G (n.165+1073C>G)
 gnomAD v4
8g.11750158C>TCA459311227GATA4c.831C>T (p.Thr277=)
c.834C>T (p.Thr278=)
c.213C>T (p.Thr71=)
c.828C>T (p.Thr276=)
c.165+1073C>T (n.165+1073C>T)
8g.11750159A>CCA370312996GATA4c.832A>C (p.Thr278Pro)
c.835A>C (p.Thr279Pro)
c.214A>C (p.Thr72Pro)
c.829A>C (p.Thr277Pro)
c.165+1074A>C (n.165+1074A>C)
8g.11750159A>GCA370312997GATA4c.832A>G (p.Thr278Ala)
c.835A>G (p.Thr279Ala)
c.214A>G (p.Thr72Ala)
c.829A>G (p.Thr277Ala)
c.165+1074A>G (n.165+1074A>G)
8g.11750159A>TCA370312998GATA4c.832A>T (p.Thr278Ser)
c.835A>T (p.Thr279Ser)
c.214A>T (p.Thr72Ser)
c.829A>T (p.Thr277Ser)
c.165+1074A>T (n.165+1074A>T)
8g.11750160C>ACA370312999GATA4c.833C>A (p.Thr278Asn)
c.836C>A (p.Thr279Asn)
c.215C>A (p.Thr72Asn)
c.830C>A (p.Thr277Asn)
c.165+1075C>A (n.165+1075C>A)
 dbSNP gnomAD v4
8g.11750160C=CA1764081159GATA4c.833C= (p.Thr278=)
c.836C= (p.Thr279=)
c.215C= (p.Thr72=)
c.830C= (p.Thr277=)
c.165+1075C= (n.165+1075C=)
8g.11750160C>GCA370313000GATA4c.833C>G (p.Thr278Ser)
c.836C>G (p.Thr279Ser)
c.215C>G (p.Thr72Ser)
c.830C>G (p.Thr277Ser)
c.165+1075C>G (n.165+1075C>G)
8g.11750160C>TCA370313001GATA4c.833C>T (p.Thr278Ile)
c.836C>T (p.Thr279Ile)
c.215C>T (p.Thr72Ile)
c.830C>T (p.Thr277Ile)
c.165+1075C>T (n.165+1075C>T)
 ClinVar dbSNP gnomAD v4
8g.11750161C>ACA459311232GATA4c.834C>A (p.Thr278=)
c.837C>A (p.Thr279=)
c.216C>A (p.Thr72=)
c.831C>A (p.Thr277=)
c.165+1076C>A (n.165+1076C>A)
8g.11750161C>GCA459311235GATA4c.834C>G (p.Thr278=)
c.837C>G (p.Thr279=)
c.216C>G (p.Thr72=)
c.831C>G (p.Thr277=)
c.165+1076C>G (n.165+1076C>G)
8g.11750161C>TCA459311234GATA4c.834C>T (p.Thr278=)
c.837C>T (p.Thr279=)
c.216C>T (p.Thr72=)
c.831C>T (p.Thr277=)
c.165+1076C>T (n.165+1076C>T)
8g.11750162A>CCA370313004GATA4c.835A>C (p.Thr279Pro)
c.838A>C (p.Thr280Pro)
c.217A>C (p.Thr73Pro)
c.832A>C (p.Thr278Pro)
c.165+1077A>C (n.165+1077A>C)
8g.11750162A>GCA370313002GATA4c.835A>G (p.Thr279Ala)
c.838A>G (p.Thr280Ala)
c.217A>G (p.Thr73Ala)
c.832A>G (p.Thr278Ala)
c.165+1077A>G (n.165+1077A>G)
8g.11750162A>TCA370313003GATA4c.835A>T (p.Thr279Ser)
c.838A>T (p.Thr280Ser)
c.217A>T (p.Thr73Ser)
c.832A>T (p.Thr278Ser)
c.165+1077A>T (n.165+1077A>T)
8g.11750163C>ACA370313005GATA4c.836C>A (p.Thr279Asn)
c.839C>A (p.Thr280Asn)
c.218C>A (p.Thr73Asn)
c.833C>A (p.Thr278Asn)
c.165+1078C>A (n.165+1078C>A)
8g.11750163C>GCA370313006GATA4c.836C>G (p.Thr279Ser)
c.839C>G (p.Thr280Ser)
c.218C>G (p.Thr73Ser)
c.833C>G (p.Thr278Ser)
c.165+1078C>G (n.165+1078C>G)
8g.11750163C>TCA370313007GATA4c.836C>T (p.Thr279Ile)
c.839C>T (p.Thr280Ile)
c.218C>T (p.Thr73Ile)
c.833C>T (p.Thr278Ile)
c.165+1078C>T (n.165+1078C>T)
8g.11750164C>ACA4630716GATA4c.837C>A (p.Thr279=)
c.840C>A (p.Thr280=)
c.219C>A (p.Thr73=)
c.834C>A (p.Thr278=)
c.165+1079C>A (n.165+1079C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750164C=CA1764081165GATA4c.837C= (p.Thr279=)
c.840C= (p.Thr280=)
c.219C= (p.Thr73=)
c.834C= (p.Thr278=)
c.165+1079C= (n.165+1079C=)
8g.11750164C>GCA459311242GATA4c.837C>G (p.Thr279=)
c.840C>G (p.Thr280=)
c.219C>G (p.Thr73=)
c.834C>G (p.Thr278=)
c.165+1079C>G (n.165+1079C>G)
 gnomAD v4
8g.11750164C>TCA4630715GATA4c.837C>T (p.Thr279=)
c.840C>T (p.Thr280=)
c.219C>T (p.Thr73=)
c.834C>T (p.Thr278=)
c.165+1079C>T (n.165+1079C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750165A=CA1764081171GATA4c.838A= (p.Thr280=)
c.841A= (p.Thr281=)
c.220A= (p.Thr74=)
c.835A= (p.Thr279=)
c.165+1080A= (n.165+1080A=)
8g.11750165A>CCA370313008GATA4c.838A>C (p.Thr280Pro)
c.841A>C (p.Thr281Pro)
c.220A>C (p.Thr74Pro)
c.835A>C (p.Thr279Pro)
c.165+1080A>C (n.165+1080A>C)
8g.11750165A>GCA370313009GATA4c.838A>G (p.Thr280Ala)
c.841A>G (p.Thr281Ala)
c.220A>G (p.Thr74Ala)
c.835A>G (p.Thr279Ala)
c.165+1080A>G (n.165+1080A>G)
8g.11750165A>TCA370313010GATA4c.838A>T (p.Thr280Ser)
c.841A>T (p.Thr281Ser)
c.220A>T (p.Thr74Ser)
c.835A>T (p.Thr279Ser)
c.165+1080A>T (n.165+1080A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11750166C>ACA370313011GATA4c.839C>A (p.Thr280Lys)
c.842C>A (p.Thr281Lys)
c.221C>A (p.Thr74Lys)
c.836C>A (p.Thr279Lys)
c.165+1081C>A (n.165+1081C>A)
8g.11750166C=CA1764081173GATA4c.839C= (p.Thr280=)
c.842C= (p.Thr281=)
c.221C= (p.Thr74=)
c.836C= (p.Thr279=)
c.165+1081C= (n.165+1081C=)
8g.11750166C>GCA370313012GATA4c.839C>G (p.Thr280Arg)
c.842C>G (p.Thr281Arg)
c.221C>G (p.Thr74Arg)
c.836C>G (p.Thr279Arg)
c.165+1081C>G (n.165+1081C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750166C>TCA212675GATA4c.839C>T (p.Thr280Met)
c.842C>T (p.Thr281Met)
c.221C>T (p.Thr74Met)
c.836C>T (p.Thr279Met)
c.165+1081C>T (n.165+1081C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11750167G>ACA4630717GATA4c.840G>A (p.Thr280=)
c.843G>A (p.Thr281=)
c.222G>A (p.Thr74=)
c.837G>A (p.Thr279=)
c.165+1082G>A (n.165+1082G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750167G>CCA459311251GATA4c.840G>C (p.Thr280=)
c.843G>C (p.Thr281=)
c.222G>C (p.Thr74=)
c.837G>C (p.Thr279=)
c.165+1082G>C (n.165+1082G>C)
 gnomAD v4 COSMIC
8g.11750167G=CA1764081180GATA4c.840G= (p.Thr280=)
c.843G= (p.Thr281=)
c.222G= (p.Thr74=)
c.837G= (p.Thr279=)
c.165+1082G= (n.165+1082G=)
8g.11750167G>TCA459311249GATA4c.840G>T (p.Thr280=)
c.843G>T (p.Thr281=)
c.222G>T (p.Thr74=)
c.837G>T (p.Thr279=)
c.165+1082G>T (n.165+1082G>T)
8g.11750168C>ACA370313013GATA4c.841C>A (p.Leu281Met)
c.844C>A (p.Leu282Met)
c.223C>A (p.Leu75Met)
c.838C>A (p.Leu280Met)
c.165+1083C>A (n.165+1083C>A)
 dbSNP gnomAD v2
8g.11750168C=CA1764081184GATA4c.841C= (p.Leu281=)
c.844C= (p.Leu282=)
c.223C= (p.Leu75=)
c.838C= (p.Leu280=)
c.165+1083C= (n.165+1083C=)
8g.11750168C>GCA370313014GATA4c.841C>G (p.Leu281Val)
c.844C>G (p.Leu282Val)
c.223C>G (p.Leu75Val)
c.838C>G (p.Leu280Val)
c.165+1083C>G (n.165+1083C>G)
8g.11750168C>TCA459311254GATA4c.841C>T (p.Leu281=)
c.844C>T (p.Leu282=)
c.223C>T (p.Leu75=)
c.838C>T (p.Leu280=)
c.165+1083C>T (n.165+1083C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.11750169T>ACA370313015GATA4c.842T>A (p.Leu281Gln)
c.845T>A (p.Leu282Gln)
c.224T>A (p.Leu75Gln)
c.839T>A (p.Leu280Gln)
c.165+1084T>A (n.165+1084T>A)
8g.11750169T>CCA370313017GATA4c.842T>C (p.Leu281Pro)
c.845T>C (p.Leu282Pro)
c.224T>C (p.Leu75Pro)
c.839T>C (p.Leu280Pro)
c.165+1084T>C (n.165+1084T>C)
8g.11750169T>GCA370313016GATA4c.842T>G (p.Leu281Arg)
c.845T>G (p.Leu282Arg)
c.224T>G (p.Leu75Arg)
c.839T>G (p.Leu280Arg)
c.165+1084T>G (n.165+1084T>G)
8g.11750170G>ACA4630718GATA4c.843G>A (p.Leu281=)
c.846G>A (p.Leu282=)
c.225G>A (p.Leu75=)
c.840G>A (p.Leu280=)
c.165+1085G>A (n.165+1085G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750170G>CCA459311260GATA4c.843G>C (p.Leu281=)
c.846G>C (p.Leu282=)
c.225G>C (p.Leu75=)
c.840G>C (p.Leu280=)
c.165+1085G>C (n.165+1085G>C)
 ClinVar
8g.11750170G=CA1764081188GATA4c.843G= (p.Leu281=)
c.846G= (p.Leu282=)
c.225G= (p.Leu75=)
c.840G= (p.Leu280=)
c.165+1085G= (n.165+1085G=)
8g.11750170G>TCA459311262GATA4c.843G>T (p.Leu281=)
c.846G>T (p.Leu282=)
c.225G>T (p.Leu75=)
c.840G>T (p.Leu280=)
c.165+1085G>T (n.165+1085G>T)
8g.11750171T>ACA370313018GATA4c.844T>A (p.Trp282Arg)
c.847T>A (p.Trp283Arg)
c.226T>A (p.Trp76Arg)
c.841T>A (p.Trp281Arg)
c.165+1086T>A (n.165+1086T>A)
8g.11750171T>CCA370313019GATA4c.844T>C (p.Trp282Arg)
c.847T>C (p.Trp283Arg)
c.226T>C (p.Trp76Arg)
c.841T>C (p.Trp281Arg)
c.165+1086T>C (n.165+1086T>C)
8g.11750171T>GCA370313020GATA4c.844T>G (p.Trp282Gly)
c.847T>G (p.Trp283Gly)
c.226T>G (p.Trp76Gly)
c.841T>G (p.Trp281Gly)
c.165+1086T>G (n.165+1086T>G)
8g.11750172G>ACA370313021GATA4c.845G>A (p.Trp282Ter)
c.848G>A (p.Trp283Ter)
c.227G>A (p.Trp76Ter)
c.842G>A (p.Trp281Ter)
c.165+1087G>A (n.165+1087G>A)
8g.11750172G>CCA370313022GATA4c.845G>C (p.Trp282Ser)
c.848G>C (p.Trp283Ser)
c.227G>C (p.Trp76Ser)
c.842G>C (p.Trp281Ser)
c.165+1087G>C (n.165+1087G>C)
8g.11750172G>TCA370313023GATA4c.845G>T (p.Trp282Leu)
c.848G>T (p.Trp283Leu)
c.227G>T (p.Trp76Leu)
c.842G>T (p.Trp281Leu)
c.165+1087G>T (n.165+1087G>T)
8g.11750173G>ACA370313024GATA4c.846G>A (p.Trp282Ter)
c.849G>A (p.Trp283Ter)
c.228G>A (p.Trp76Ter)
c.843G>A (p.Trp281Ter)
c.165+1088G>A (n.165+1088G>A)
8g.11750173G>CCA370313025GATA4c.846G>C (p.Trp282Cys)
c.849G>C (p.Trp283Cys)
c.228G>C (p.Trp76Cys)
c.843G>C (p.Trp281Cys)
c.165+1088G>C (n.165+1088G>C)
8g.11750173G>TCA370313026GATA4c.846G>T (p.Trp282Cys)
c.849G>T (p.Trp283Cys)
c.228G>T (p.Trp76Cys)
c.843G>T (p.Trp281Cys)
c.165+1088G>T (n.165+1088G>T)
8g.11750174C>ACA370313029GATA4c.847C>A (p.Arg283Ser)
c.850C>A (p.Arg284Ser)
c.229C>A (p.Arg77Ser)
c.844C>A (p.Arg282Ser)
c.165+1089C>A (n.165+1089C>A)
8g.11750174C>GCA370313028GATA4c.847C>G (p.Arg283Gly)
c.850C>G (p.Arg284Gly)
c.229C>G (p.Arg77Gly)
c.844C>G (p.Arg282Gly)
c.165+1089C>G (n.165+1089C>G)
8g.11750174C>TCA370313027GATA4c.847C>T (p.Arg283Cys)
c.850C>T (p.Arg284Cys)
c.229C>T (p.Arg77Cys)
c.844C>T (p.Arg282Cys)
c.165+1089C>T (n.165+1089C>T)
 gnomAD v4
8g.11750175G>ACA172114436GATA4c.848G>A (p.Arg283His)
c.851G>A (p.Arg284His)
c.230G>A (p.Arg77His)
c.845G>A (p.Arg282His)
c.165+1090G>A (n.165+1090G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11750175G>CCA370313030GATA4c.848G>C (p.Arg283Pro)
c.851G>C (p.Arg284Pro)
c.230G>C (p.Arg77Pro)
c.845G>C (p.Arg282Pro)
c.165+1090G>C (n.165+1090G>C)
8g.11750175G=CA1764081191GATA4c.848G= (p.Arg283=)
c.851G= (p.Arg284=)
c.230G= (p.Arg77=)
c.845G= (p.Arg282=)
c.165+1090G= (n.165+1090G=)
8g.11750175G>TCA370313031GATA4c.848G>T (p.Arg283Leu)
c.851G>T (p.Arg284Leu)
c.230G>T (p.Arg77Leu)
c.845G>T (p.Arg282Leu)
c.165+1090G>T (n.165+1090G>T)
8g.11750176C>ACA459311277GATA4c.849C>A (p.Arg283=)
c.852C>A (p.Arg284=)
c.231C>A (p.Arg77=)
c.846C>A (p.Arg282=)
c.165+1091C>A (n.165+1091C>A)
 gnomAD v4
8g.11750176C=CA1764081194GATA4c.849C= (p.Arg283=)
c.852C= (p.Arg284=)
c.231C= (p.Arg77=)
c.846C= (p.Arg282=)
c.165+1091C= (n.165+1091C=)
8g.11750176C>GCA4630719GATA4c.849C>G (p.Arg283=)
c.852C>G (p.Arg284=)
c.231C>G (p.Arg77=)
c.846C>G (p.Arg282=)
c.165+1091C>G (n.165+1091C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750176C>TCA459311275GATA4c.849C>T (p.Arg283=)
c.852C>T (p.Arg284=)
c.231C>T (p.Arg77=)
c.846C>T (p.Arg282=)
c.165+1091C>T (n.165+1091C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750177C>ACA370313032GATA4c.850C>A (p.Arg284Ser)
c.853C>A (p.Arg285Ser)
c.232C>A (p.Arg78Ser)
c.847C>A (p.Arg283Ser)
c.165+1092C>A (n.165+1092C>A)
 dbSNP
8g.11750177C>GCA370313033GATA4c.850C>G (p.Arg284Gly)
c.853C>G (p.Arg285Gly)
c.232C>G (p.Arg78Gly)
c.847C>G (p.Arg283Gly)
c.165+1092C>G (n.165+1092C>G)
8g.11750177C>TCA370313034GATA4c.850C>T (p.Arg284Cys)
c.853C>T (p.Arg285Cys)
c.232C>T (p.Arg78Cys)
c.847C>T (p.Arg283Cys)
c.165+1092C>T (n.165+1092C>T)
 ClinVar
8g.11750178G>ACA370313035GATA4c.851G>A (p.Arg284His)
c.854G>A (p.Arg285His)
c.233G>A (p.Arg78His)
c.848G>A (p.Arg283His)
c.165+1093G>A (n.165+1093G>A)
 ClinVar dbSNP
8g.11750178G>CCA370313036GATA4c.851G>C (p.Arg284Pro)
c.854G>C (p.Arg285Pro)
c.233G>C (p.Arg78Pro)
c.848G>C (p.Arg283Pro)
c.165+1093G>C (n.165+1093G>C)
8g.11750178G>TCA370313037GATA4c.851G>T (p.Arg284Leu)
c.854G>T (p.Arg285Leu)
c.233G>T (p.Arg78Leu)
c.848G>T (p.Arg283Leu)
c.165+1093G>T (n.165+1093G>T)
8g.11750178_11750180delCA2573102939GATA4c.851_853del (p.Arg284_Asn285delinsHis)
c.854_856del (p.Arg285_Asn286delinsHis)
c.233_235del (p.Arg78_Asn79delinsHis)
c.848_850del (p.Arg283_Asn284delinsHis)
c.165+1093_165+1095del (n.165+1093_165+1095del)
 ClinVar
8g.11750179C>ACA459311283GATA4c.852C>A (p.Arg284=)
c.855C>A (p.Arg285=)
c.234C>A (p.Arg78=)
c.849C>A (p.Arg283=)
c.165+1094C>A (n.165+1094C>A)
8g.11750179C=CA1764081197GATA4c.852C= (p.Arg284=)
c.855C= (p.Arg285=)
c.234C= (p.Arg78=)
c.849C= (p.Arg283=)
c.165+1094C= (n.165+1094C=)
8g.11750179C>GCA459311285GATA4c.852C>G (p.Arg284=)
c.855C>G (p.Arg285=)
c.234C>G (p.Arg78=)
c.849C>G (p.Arg283=)
c.165+1094C>G (n.165+1094C>G)
8g.11750179C>TCA4630720GATA4c.852C>T (p.Arg284=)
c.855C>T (p.Arg285=)
c.234C>T (p.Arg78=)
c.849C>T (p.Arg283=)
c.165+1094C>T (n.165+1094C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750180A>CCA370313039GATA4c.853A>C (p.Asn285His)
c.856A>C (p.Asn286His)
c.235A>C (p.Asn79His)
c.850A>C (p.Asn284His)
c.165+1095A>C (n.165+1095A>C)
8g.11750180A>GCA370313040GATA4c.853A>G (p.Asn285Asp)
c.856A>G (p.Asn286Asp)
c.235A>G (p.Asn79Asp)
c.850A>G (p.Asn284Asp)
c.165+1095A>G (n.165+1095A>G)
8g.11750180A>TCA370313038GATA4c.853A>T (p.Asn285Tyr)
c.856A>T (p.Asn286Tyr)
c.235A>T (p.Asn79Tyr)
c.850A>T (p.Asn284Tyr)
c.165+1095A>T (n.165+1095A>T)
8g.11750181A>CCA370313041GATA4c.854A>C (p.Asn285Thr)
c.857A>C (p.Asn286Thr)
c.236A>C (p.Asn79Thr)
c.851A>C (p.Asn284Thr)
c.165+1096A>C (n.165+1096A>C)
8g.11750181A>GCA370313042GATA4c.854A>G (p.Asn285Ser)
c.857A>G (p.Asn286Ser)
c.236A>G (p.Asn79Ser)
c.851A>G (p.Asn284Ser)
c.165+1096A>G (n.165+1096A>G)
8g.11750181A>TCA370313043GATA4c.854A>T (p.Asn285Ile)
c.857A>T (p.Asn286Ile)
c.236A>T (p.Asn79Ile)
c.851A>T (p.Asn284Ile)
c.165+1096A>T (n.165+1096A>T)
8g.11750182T>ACA370313044GATA4c.855T>A (p.Asn285Lys)
c.858T>A (p.Asn286Lys)
c.237T>A (p.Asn79Lys)
c.852T>A (p.Asn284Lys)
c.165+1097T>A (n.165+1097T>A)
8g.11750182T>CCA4630721GATA4c.855T>C (p.Asn285=)
c.858T>C (p.Asn286=)
c.237T>C (p.Asn79=)
c.852T>C (p.Asn284=)
c.165+1097T>C (n.165+1097T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750182T>GCA370313045GATA4c.855T>G (p.Asn285Lys)
c.858T>G (p.Asn286Lys)
c.237T>G (p.Asn79Lys)
c.852T>G (p.Asn284Lys)
c.165+1097T>G (n.165+1097T>G)
8g.11750182T=CA1764081200GATA4c.855T= (p.Asn285=)
c.858T= (p.Asn286=)
c.237T= (p.Asn79=)
c.852T= (p.Asn284=)
c.165+1097T= (n.165+1097T=)
8g.11750183G>ACA370313046GATA4c.856G>A (p.Ala286Thr)
c.859G>A (p.Ala287Thr)
c.238G>A (p.Ala80Thr)
c.853G>A (p.Ala285Thr)
c.165+1098G>A (n.165+1098G>A)
8g.11750183G>CCA370313047GATA4c.856G>C (p.Ala286Pro)
c.859G>C (p.Ala287Pro)
c.238G>C (p.Ala80Pro)
c.853G>C (p.Ala285Pro)
c.165+1098G>C (n.165+1098G>C)
8g.11750183G>TCA370313048GATA4c.856G>T (p.Ala286Ser)
c.859G>T (p.Ala287Ser)
c.238G>T (p.Ala80Ser)
c.853G>T (p.Ala285Ser)
c.165+1098G>T (n.165+1098G>T)
8g.11750184C>ACA370313049GATA4c.857C>A (p.Ala286Glu)
c.860C>A (p.Ala287Glu)
c.239C>A (p.Ala80Glu)
c.854C>A (p.Ala285Glu)
c.165+1099C>A (n.165+1099C>A)
 gnomAD v4
8g.11750184C=CA1764081203GATA4c.857C= (p.Ala286=)
c.860C= (p.Ala287=)
c.239C= (p.Ala80=)
c.854C= (p.Ala285=)
c.165+1099C= (n.165+1099C=)
8g.11750184C>GCA370313050GATA4c.857C>G (p.Ala286Gly)
c.860C>G (p.Ala287Gly)
c.239C>G (p.Ala80Gly)
c.854C>G (p.Ala285Gly)
c.165+1099C>G (n.165+1099C>G)
8g.11750184C>TCA4630722GATA4c.857C>T (p.Ala286Val)
c.860C>T (p.Ala287Val)
c.239C>T (p.Ala80Val)
c.854C>T (p.Ala285Val)
c.165+1099C>T (n.165+1099C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750185G>ACA4630723GATA4c.858G>A (p.Ala286=)
c.861G>A (p.Ala287=)
c.240G>A (p.Ala80=)
c.855G>A (p.Ala285=)
c.165+1100G>A (n.165+1100G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11750185G>CCA459311301GATA4c.858G>C (p.Ala286=)
c.861G>C (p.Ala287=)
c.240G>C (p.Ala80=)
c.855G>C (p.Ala285=)
c.165+1100G>C (n.165+1100G>C)
8g.11750185G=CA1764081210GATA4c.858G= (p.Ala286=)
c.861G= (p.Ala287=)
c.240G= (p.Ala80=)
c.855G= (p.Ala285=)
c.165+1100G= (n.165+1100G=)
8g.11750185G>TCA459311303GATA4c.858G>T (p.Ala286=)
c.861G>T (p.Ala287=)
c.240G>T (p.Ala80=)
c.855G>T (p.Ala285=)
c.165+1100G>T (n.165+1100G>T)
 gnomAD v4
8g.11750186G>ACA370313053GATA4c.859G>A (p.Glu287Lys)
c.862G>A (p.Glu288Lys)
c.241G>A (p.Glu81Lys)
c.856G>A (p.Glu286Lys)
c.165+1101G>A (n.165+1101G>A)
8g.11750186G>CCA370313052GATA4c.859G>C (p.Glu287Gln)
c.862G>C (p.Glu288Gln)
c.241G>C (p.Glu81Gln)
c.856G>C (p.Glu286Gln)
c.165+1101G>C (n.165+1101G>C)
8g.11750186G>TCA370313051GATA4c.859G>T (p.Glu287Ter)
c.862G>T (p.Glu288Ter)
c.241G>T (p.Glu81Ter)
c.856G>T (p.Glu286Ter)
c.165+1101G>T (n.165+1101G>T)
8g.11750187A>CCA370313054GATA4c.860A>C (p.Glu287Ala)
c.863A>C (p.Glu288Ala)
c.242A>C (p.Glu81Ala)
c.857A>C (p.Glu286Ala)
c.165+1102A>C (n.165+1102A>C)
8g.11750187A>GCA370313055GATA4c.860A>G (p.Glu287Gly)
c.863A>G (p.Glu288Gly)
c.242A>G (p.Glu81Gly)
c.857A>G (p.Glu286Gly)
c.165+1102A>G (n.165+1102A>G)
8g.11750187A>TCA370313056GATA4c.860A>T (p.Glu287Val)
c.863A>T (p.Glu288Val)
c.242A>T (p.Glu81Val)
c.857A>T (p.Glu286Val)
c.165+1102A>T (n.165+1102A>T)
8g.11750188G>ACA459311311GATA4c.861G>A (p.Glu287=)
c.864G>A (p.Glu288=)
c.243G>A (p.Glu81=)
c.858G>A (p.Glu286=)
c.165+1103G>A (n.165+1103G>A)
8g.11750188G>CCA370313057GATA4c.861G>C (p.Glu287Asp)
c.864G>C (p.Glu288Asp)
c.243G>C (p.Glu81Asp)
c.858G>C (p.Glu286Asp)
c.165+1103G>C (n.165+1103G>C)
8g.11750188G>TCA370313058GATA4c.861G>T (p.Glu287Asp)
c.864G>T (p.Glu288Asp)
c.243G>T (p.Glu81Asp)
c.858G>T (p.Glu286Asp)
c.165+1103G>T (n.165+1103G>T)
8g.11750189G>ACA370313059GATA4c.862G>A (p.Gly288Ser)
c.865G>A (p.Gly289Ser)
c.244G>A (p.Gly82Ser)
c.859G>A (p.Gly287Ser)
c.165+1104G>A (n.165+1104G>A)
8g.11750189G>CCA370313060GATA4c.862G>C (p.Gly288Arg)
c.865G>C (p.Gly289Arg)
c.244G>C (p.Gly82Arg)
c.859G>C (p.Gly287Arg)
c.165+1104G>C (n.165+1104G>C)
8g.11750189G>TCA370313061GATA4c.862G>T (p.Gly288Cys)
c.865G>T (p.Gly289Cys)
c.244G>T (p.Gly82Cys)
c.859G>T (p.Gly287Cys)
c.165+1104G>T (n.165+1104G>T)
8g.11750190G>ACA370313062GATA4c.863G>A (p.Gly288Asp)
c.866G>A (p.Gly289Asp)
c.245G>A (p.Gly82Asp)
c.860G>A (p.Gly287Asp)
c.165+1105G>A (n.165+1105G>A)
8g.11750190G>CCA370313063GATA4c.863G>C (p.Gly288Ala)
c.866G>C (p.Gly289Ala)
c.245G>C (p.Gly82Ala)
c.860G>C (p.Gly287Ala)
c.165+1105G>C (n.165+1105G>C)
8g.11750190G>TCA370313064GATA4c.863G>T (p.Gly288Val)
c.866G>T (p.Gly289Val)
c.245G>T (p.Gly82Val)
c.860G>T (p.Gly287Val)
c.165+1105G>T (n.165+1105G>T)
8g.11750191C>ACA459311318GATA4c.864C>A (p.Gly288=)
c.867C>A (p.Gly289=)
c.246C>A (p.Gly82=)
c.861C>A (p.Gly287=)
c.165+1106C>A (n.165+1106C>A)
8g.11750191C=CA1764081215GATA4c.864C= (p.Gly288=)
c.867C= (p.Gly289=)
c.246C= (p.Gly82=)
c.861C= (p.Gly287=)
c.165+1106C= (n.165+1106C=)
8g.11750191C>GCA4630725GATA4c.864C>G (p.Gly288=)
c.867C>G (p.Gly289=)
c.246C>G (p.Gly82=)
c.861C>G (p.Gly287=)
c.165+1106C>G (n.165+1106C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750191C>TCA4630724GATA4c.864C>T (p.Gly288=)
c.867C>T (p.Gly289=)
c.246C>T (p.Gly82=)
c.861C>T (p.Gly287=)
c.165+1106C>T (n.165+1106C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750192G>ACA172114452GATA4c.865G>A (p.Glu289Lys)
c.868G>A (p.Glu290Lys)
c.247G>A (p.Glu83Lys)
c.862G>A (p.Glu288Lys)
c.165+1107G>A (n.165+1107G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750192G>CCA370313066GATA4c.865G>C (p.Glu289Gln)
c.868G>C (p.Glu290Gln)
c.247G>C (p.Glu83Gln)
c.862G>C (p.Glu288Gln)
c.165+1107G>C (n.165+1107G>C)
8g.11750192G=CA1764081218GATA4c.865G= (p.Glu289=)
c.868G= (p.Glu290=)
c.247G= (p.Glu83=)
c.862G= (p.Glu288=)
c.165+1107G= (n.165+1107G=)
8g.11750192G>TCA370313065GATA4c.865G>T (p.Glu289Ter)
c.868G>T (p.Glu290Ter)
c.247G>T (p.Glu83Ter)
c.862G>T (p.Glu288Ter)
c.165+1107G>T (n.165+1107G>T)
 gnomAD v4
8g.11750193A>CCA370313068GATA4c.866A>C (p.Glu289Ala)
c.869A>C (p.Glu290Ala)
c.248A>C (p.Glu83Ala)
c.863A>C (p.Glu288Ala)
c.165+1108A>C (n.165+1108A>C)
8g.11750193A>GCA370313067GATA4c.866A>G (p.Glu289Gly)
c.869A>G (p.Glu290Gly)
c.248A>G (p.Glu83Gly)
c.863A>G (p.Glu288Gly)
c.165+1108A>G (n.165+1108A>G)
8g.11750193A>TCA370313069GATA4c.866A>T (p.Glu289Val)
c.869A>T (p.Glu290Val)
c.248A>T (p.Glu83Val)
c.863A>T (p.Glu288Val)
c.165+1108A>T (n.165+1108A>T)
8g.11750194G>ACA459311325GATA4c.867G>A (p.Glu289=)
c.870G>A (p.Glu290=)
c.249G>A (p.Glu83=)
c.864G>A (p.Glu288=)
c.165+1109G>A (n.165+1109G>A)
 gnomAD v4
8g.11750194G>CCA370313070GATA4c.867G>C (p.Glu289Asp)
c.870G>C (p.Glu290Asp)
c.249G>C (p.Glu83Asp)
c.864G>C (p.Glu288Asp)
c.165+1109G>C (n.165+1109G>C)
8g.11750194G>TCA370313071GATA4c.867G>T (p.Glu289Asp)
c.870G>T (p.Glu290Asp)
c.249G>T (p.Glu83Asp)
c.864G>T (p.Glu288Asp)
c.165+1109G>T (n.165+1109G>T)
 ClinVar dbSNP
8g.11750195C>ACA370313072GATA4c.868C>A (p.Pro290Thr)
c.871C>A (p.Pro291Thr)
c.250C>A (p.Pro84Thr)
c.865C>A (p.Pro289Thr)
c.165+1110C>A (n.165+1110C>A)
8g.11750195C>GCA370313073GATA4c.868C>G (p.Pro290Ala)
c.871C>G (p.Pro291Ala)
c.250C>G (p.Pro84Ala)
c.865C>G (p.Pro289Ala)
c.165+1110C>G (n.165+1110C>G)
8g.11750195C>TCA370313074GATA4c.868C>T (p.Pro290Ser)
c.871C>T (p.Pro291Ser)
c.250C>T (p.Pro84Ser)
c.865C>T (p.Pro289Ser)
c.165+1110C>T (n.165+1110C>T)
 COSMIC
8g.11750196C>ACA370313075GATA4c.869C>A (p.Pro290His)
c.872C>A (p.Pro291His)
c.251C>A (p.Pro84His)
c.866C>A (p.Pro289His)
c.165+1111C>A (n.165+1111C>A)
8g.11750196C>GCA370313076GATA4c.869C>G (p.Pro290Arg)
c.872C>G (p.Pro291Arg)
c.251C>G (p.Pro84Arg)
c.866C>G (p.Pro289Arg)
c.165+1111C>G (n.165+1111C>G)
8g.11750196C>TCA370313077GATA4c.869C>T (p.Pro290Leu)
c.872C>T (p.Pro291Leu)
c.251C>T (p.Pro84Leu)
c.866C>T (p.Pro289Leu)
c.165+1111C>T (n.165+1111C>T)
8g.11750197T>ACA459311337GATA4c.870T>A (p.Pro290=)
c.873T>A (p.Pro291=)
c.252T>A (p.Pro84=)
c.867T>A (p.Pro289=)
c.165+1112T>A (n.165+1112T>A)
8g.11750197T>CCA459311335GATA4c.870T>C (p.Pro290=)
c.873T>C (p.Pro291=)
c.252T>C (p.Pro84=)
c.867T>C (p.Pro289=)
c.165+1112T>C (n.165+1112T>C)
 dbSNP gnomAD v4
8g.11750197T>GCA459311334GATA4c.870T>G (p.Pro290=)
c.873T>G (p.Pro291=)
c.252T>G (p.Pro84=)
c.867T>G (p.Pro289=)
c.165+1112T>G (n.165+1112T>G)
8g.11750197T=CA1764081220GATA4c.870T= (p.Pro290=)
c.873T= (p.Pro291=)
c.252T= (p.Pro84=)
c.867T= (p.Pro289=)
c.165+1112T= (n.165+1112T=)
8g.11750198G>ACA370313078GATA4c.871G>A (p.Val291Met)
c.874G>A (p.Val292Met)
c.253G>A (p.Val85Met)
c.868G>A (p.Val290Met)
c.165+1113G>A (n.165+1113G>A)
8g.11750198G>CCA370313079GATA4c.871G>C (p.Val291Leu)
c.874G>C (p.Val292Leu)
c.253G>C (p.Val85Leu)
c.868G>C (p.Val290Leu)
c.165+1113G>C (n.165+1113G>C)
8g.11750198G>TCA370313080GATA4c.871G>T (p.Val291Leu)
c.874G>T (p.Val292Leu)
c.253G>T (p.Val85Leu)
c.868G>T (p.Val290Leu)
c.165+1113G>T (n.165+1113G>T)
8g.11750199T>ACA370313081GATA4c.872T>A (p.Val291Glu)
c.875T>A (p.Val292Glu)
c.254T>A (p.Val85Glu)
c.869T>A (p.Val290Glu)
c.165+1114T>A (n.165+1114T>A)
8g.11750199T>CCA370313082GATA4c.872T>C (p.Val291Ala)
c.875T>C (p.Val292Ala)
c.254T>C (p.Val85Ala)
c.869T>C (p.Val290Ala)
c.165+1114T>C (n.165+1114T>C)
8g.11750199T>GCA370313083GATA4c.872T>G (p.Val291Gly)
c.875T>G (p.Val292Gly)
c.254T>G (p.Val85Gly)
c.869T>G (p.Val290Gly)
c.165+1114T>G (n.165+1114T>G)
8g.11750200G>ACA459311344GATA4c.873G>A (p.Val291=)
c.876G>A (p.Val292=)
c.255G>A (p.Val85=)
c.870G>A (p.Val290=)
c.165+1115G>A (n.165+1115G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.11750200G>CCA459311345GATA4c.873G>C (p.Val291=)
c.876G>C (p.Val292=)
c.255G>C (p.Val85=)
c.870G>C (p.Val290=)
c.165+1115G>C (n.165+1115G>C)
8g.11750200G=CA1764081222GATA4c.873G= (p.Val291=)
c.876G= (p.Val292=)
c.255G= (p.Val85=)
c.870G= (p.Val290=)
c.165+1115G= (n.165+1115G=)
8g.11750200G>TCA459311347GATA4c.873G>T (p.Val291=)
c.876G>T (p.Val292=)
c.255G>T (p.Val85=)
c.870G>T (p.Val290=)
c.165+1115G>T (n.165+1115G>T)
8g.11750201T>ACA370313086GATA4c.874T>A (p.Cys292Ser)
c.877T>A (p.Cys293Ser)
c.256T>A (p.Cys86Ser)
c.871T>A (p.Cys291Ser)
c.165+1116T>A (n.165+1116T>A)
8g.11750201T>CCA370313084GATA4c.874T>C (p.Cys292Arg)
c.877T>C (p.Cys293Arg)
c.256T>C (p.Cys86Arg)
c.871T>C (p.Cys291Arg)
c.165+1116T>C (n.165+1116T>C)
8g.11750201T>GCA370313085GATA4c.874T>G (p.Cys292Gly)
c.877T>G (p.Cys293Gly)
c.256T>G (p.Cys86Gly)
c.871T>G (p.Cys291Gly)
c.165+1116T>G (n.165+1116T>G)
8g.11750202G>ACA370313087GATA4c.875G>A (p.Cys292Tyr)
c.878G>A (p.Cys293Tyr)
c.257G>A (p.Cys86Tyr)
c.872G>A (p.Cys291Tyr)
c.165+1117G>A (n.165+1117G>A)
8g.11750202G>CCA370313088GATA4c.875G>C (p.Cys292Ser)
c.878G>C (p.Cys293Ser)
c.257G>C (p.Cys86Ser)
c.872G>C (p.Cys291Ser)
c.165+1117G>C (n.165+1117G>C)
8g.11750202G>TCA370313089GATA4c.875G>T (p.Cys292Phe)
c.878G>T (p.Cys293Phe)
c.257G>T (p.Cys86Phe)
c.872G>T (p.Cys291Phe)
c.165+1117G>T (n.165+1117G>T)
 COSMIC
8g.11750203C>ACA370313090GATA4c.876C>A (p.Cys292Ter)
c.879C>A (p.Cys293Ter)
c.258C>A (p.Cys86Ter)
c.873C>A (p.Cys291Ter)
c.165+1118C>A (n.165+1118C>A)
8g.11750203C>GCA370313091GATA4c.876C>G (p.Cys292Trp)
c.879C>G (p.Cys293Trp)
c.258C>G (p.Cys86Trp)
c.873C>G (p.Cys291Trp)
c.165+1118C>G (n.165+1118C>G)
 ClinVar dbSNP
8g.11750203C>TCA459311354GATA4c.876C>T (p.Cys292=)
c.879C>T (p.Cys293=)
c.258C>T (p.Cys86=)
c.873C>T (p.Cys291=)
c.165+1118C>T (n.165+1118C>T)
 ClinVar dbSNP
8g.11750204A>CCA370313092GATA4c.877A>C (p.Asn293His)
c.880A>C (p.Asn294His)
c.259A>C (p.Asn87His)
c.874A>C (p.Asn292His)
c.165+1119A>C (n.165+1119A>C)
8g.11750204A>GCA370313093GATA4c.877A>G (p.Asn293Asp)
c.880A>G (p.Asn294Asp)
c.259A>G (p.Asn87Asp)
c.874A>G (p.Asn292Asp)
c.165+1119A>G (n.165+1119A>G)
8g.11750204A>TCA370313094GATA4c.877A>T (p.Asn293Tyr)
c.880A>T (p.Asn294Tyr)
c.259A>T (p.Asn87Tyr)
c.874A>T (p.Asn292Tyr)
c.165+1119A>T (n.165+1119A>T)
8g.11750205A>CCA370313095GATA4c.878A>C (p.Asn293Thr)
c.881A>C (p.Asn294Thr)
c.260A>C (p.Asn87Thr)
c.875A>C (p.Asn292Thr)
c.165+1120A>C (n.165+1120A>C)
8g.11750205A>GCA370313096GATA4c.878A>G (p.Asn293Ser)
c.881A>G (p.Asn294Ser)
c.260A>G (p.Asn87Ser)
c.875A>G (p.Asn292Ser)
c.165+1120A>G (n.165+1120A>G)
8g.11750205A>TCA370313097GATA4c.878A>T (p.Asn293Ile)
c.881A>T (p.Asn294Ile)
c.260A>T (p.Asn87Ile)
c.875A>T (p.Asn292Ile)
c.165+1120A>T (n.165+1120A>T)
8g.11750206T>ACA370313099GATA4c.879T>A (p.Asn293Lys)
c.882T>A (p.Asn294Lys)
c.261T>A (p.Asn87Lys)
c.876T>A (p.Asn292Lys)
c.165+1121T>A (n.165+1121T>A)
8g.11750206T>CCA459311363GATA4c.879T>C (p.Asn293=)
c.882T>C (p.Asn294=)
c.261T>C (p.Asn87=)
c.876T>C (p.Asn292=)
c.165+1121T>C (n.165+1121T>C)
 dbSNP gnomAD v4
8g.11750206T>GCA370313098GATA4c.879T>G (p.Asn293Lys)
c.882T>G (p.Asn294Lys)
c.261T>G (p.Asn87Lys)
c.876T>G (p.Asn292Lys)
c.165+1121T>G (n.165+1121T>G)
8g.11750207G>ACA370313100GATA4c.880G>A (p.Ala294Thr)
c.883G>A (p.Ala295Thr)
c.262G>A (p.Ala88Thr)
c.877G>A (p.Ala293Thr)
c.165+1122G>A (n.165+1122G>A)
8g.11750207G>CCA4630726GATA4c.880G>C (p.Ala294Pro)
c.883G>C (p.Ala295Pro)
c.262G>C (p.Ala88Pro)
c.877G>C (p.Ala293Pro)
c.165+1122G>C (n.165+1122G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750207G=CA1764081227GATA4c.880G= (p.Ala294=)
c.883G= (p.Ala295=)
c.262G= (p.Ala88=)
c.877G= (p.Ala293=)
c.165+1122G= (n.165+1122G=)
8g.11750207G>TCA370313101GATA4c.880G>T (p.Ala294Ser)
c.883G>T (p.Ala295Ser)
c.262G>T (p.Ala88Ser)
c.877G>T (p.Ala293Ser)
c.165+1122G>T (n.165+1122G>T)
 gnomAD v4
8g.11750208C>ACA370313102GATA4c.881C>A (p.Ala294Asp)
c.884C>A (p.Ala295Asp)
c.263C>A (p.Ala88Asp)
c.878C>A (p.Ala293Asp)
c.165+1123C>A (n.165+1123C>A)
8g.11750208C>GCA370313103GATA4c.881C>G (p.Ala294Gly)
c.884C>G (p.Ala295Gly)
c.263C>G (p.Ala88Gly)
c.878C>G (p.Ala293Gly)
c.165+1123C>G (n.165+1123C>G)
8g.11750208C>TCA370313104GATA4c.881C>T (p.Ala294Val)
c.884C>T (p.Ala295Val)
c.263C>T (p.Ala88Val)
c.878C>T (p.Ala293Val)
c.165+1123C>T (n.165+1123C>T)
8g.11750209C>ACA459311369GATA4c.882C>A (p.Ala294=)
c.885C>A (p.Ala295=)
c.264C>A (p.Ala88=)
c.879C>A (p.Ala293=)
c.165+1124C>A (n.165+1124C>A)
8g.11750209C=CA1764081231GATA4c.882C= (p.Ala294=)
c.885C= (p.Ala295=)
c.264C= (p.Ala88=)
c.879C= (p.Ala293=)
c.165+1124C= (n.165+1124C=)
8g.11750209C>GCA459311371GATA4c.882C>G (p.Ala294=)
c.885C>G (p.Ala295=)
c.264C>G (p.Ala88=)
c.879C>G (p.Ala293=)
c.165+1124C>G (n.165+1124C>G)
8g.11750209C>TCA459311373GATA4c.882C>T (p.Ala294=)
c.885C>T (p.Ala295=)
c.264C>T (p.Ala88=)
c.879C>T (p.Ala293=)
c.165+1124C>T (n.165+1124C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750210T>ACA370313105GATA4c.883T>A (p.Cys295Ser)
c.886T>A (p.Cys296Ser)
c.265T>A (p.Cys89Ser)
c.880T>A (p.Cys294Ser)
c.165+1125T>A (n.165+1125T>A)
8g.11750210T>CCA370313106GATA4c.883T>C (p.Cys295Arg)
c.886T>C (p.Cys296Arg)
c.265T>C (p.Cys89Arg)
c.880T>C (p.Cys294Arg)
c.165+1125T>C (n.165+1125T>C)
8g.11750210T>GCA370313107GATA4c.883T>G (p.Cys295Gly)
c.886T>G (p.Cys296Gly)
c.265T>G (p.Cys89Gly)
c.880T>G (p.Cys294Gly)
c.165+1125T>G (n.165+1125T>G)

Number of alleles fetched