Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.11758251G>ACA580031713GATA4c.1147-42G>A (n.1147-42G>A)
c.1150-42G>A (n.1150-42G>A)
n.592-42G>A
c.529-42G>A (n.529-42G>A)
c.1144-42G>A (n.1144-42G>A)
c.403-42G>A (n.403-42G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758251G=CA1764074017GATA4c.1147-42G= (n.1147-42G=)
c.1150-42G= (n.1150-42G=)
n.592-42G=
c.529-42G= (n.529-42G=)
c.1144-42G= (n.1144-42G=)
c.403-42G= (n.403-42G=)
8g.11758251G>TCA2686137348GATA4c.1147-42G>T (n.1147-42G>T)
c.1150-42G>T (n.1150-42G>T)
n.592-42G>T
c.529-42G>T (n.529-42G>T)
c.1144-42G>T (n.1144-42G>T)
c.403-42G>T (n.403-42G>T)
 gnomAD v4
8g.11758252A>CCA2686137350GATA4c.1147-41A>C (n.1147-41A>C)
c.1150-41A>C (n.1150-41A>C)
n.592-41A>C
c.529-41A>C (n.529-41A>C)
c.1144-41A>C (n.1144-41A>C)
c.403-41A>C (n.403-41A>C)
 gnomAD v4
8g.11758252A>GCA2686137351GATA4c.1147-41A>G (n.1147-41A>G)
c.1150-41A>G (n.1150-41A>G)
n.592-41A>G
c.529-41A>G (n.529-41A>G)
c.1144-41A>G (n.1144-41A>G)
c.403-41A>G (n.403-41A>G)
 gnomAD v4
8g.11758253G>ACA4630862GATA4c.1147-40G>A (n.1147-40G>A)
c.1150-40G>A (n.1150-40G>A)
n.592-40G>A
c.529-40G>A (n.529-40G>A)
c.1144-40G>A (n.1144-40G>A)
c.403-40G>A (n.403-40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758253G>CCA580031714GATA4c.1147-40G>C (n.1147-40G>C)
c.1150-40G>C (n.1150-40G>C)
n.592-40G>C
c.529-40G>C (n.529-40G>C)
c.1144-40G>C (n.1144-40G>C)
c.403-40G>C (n.403-40G>C)
 dbSNP gnomAD v2 gnomAD v4
8g.11758253G=CA1764074019GATA4c.1147-40G= (n.1147-40G=)
c.1150-40G= (n.1150-40G=)
n.592-40G=
c.529-40G= (n.529-40G=)
c.1144-40G= (n.1144-40G=)
c.403-40G= (n.403-40G=)
8g.11758254C>ACA2686137353GATA4c.1147-39C>A (n.1147-39C>A)
c.1150-39C>A (n.1150-39C>A)
n.592-39C>A
c.529-39C>A (n.529-39C>A)
c.1144-39C>A (n.1144-39C>A)
c.403-39C>A (n.403-39C>A)
 gnomAD v4
8g.11758254C=CA1764074021GATA4c.1147-39C= (n.1147-39C=)
c.1150-39C= (n.1150-39C=)
n.592-39C=
c.529-39C= (n.529-39C=)
c.1144-39C= (n.1144-39C=)
c.403-39C= (n.403-39C=)
8g.11758254C>TCA4630863GATA4c.1147-39C>T (n.1147-39C>T)
c.1150-39C>T (n.1150-39C>T)
n.592-39C>T
c.529-39C>T (n.529-39C>T)
c.1144-39C>T (n.1144-39C>T)
c.403-39C>T (n.403-39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758255G>ACA4630864GATA4c.1147-38G>A (n.1147-38G>A)
c.1150-38G>A (n.1150-38G>A)
n.592-38G>A
c.529-38G>A (n.529-38G>A)
c.1144-38G>A (n.1144-38G>A)
c.403-38G>A (n.403-38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758255G=CA1764074023GATA4c.1147-38G= (n.1147-38G=)
c.1150-38G= (n.1150-38G=)
n.592-38G=
c.529-38G= (n.529-38G=)
c.1144-38G= (n.1144-38G=)
c.403-38G= (n.403-38G=)
8g.11758255G>TCA2686137355GATA4c.1147-38G>T (n.1147-38G>T)
c.1150-38G>T (n.1150-38G>T)
n.592-38G>T
c.529-38G>T (n.529-38G>T)
c.1144-38G>T (n.1144-38G>T)
c.403-38G>T (n.403-38G>T)
 gnomAD v4
8g.11758256T>CCA4630865GATA4c.1147-37T>C (n.1147-37T>C)
c.1150-37T>C (n.1150-37T>C)
n.592-37T>C
c.529-37T>C (n.529-37T>C)
c.1144-37T>C (n.1144-37T>C)
c.403-37T>C (n.403-37T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758256T=CA1764074025GATA4c.1147-37T= (n.1147-37T=)
c.1150-37T= (n.1150-37T=)
n.592-37T=
c.529-37T= (n.529-37T=)
c.1144-37T= (n.1144-37T=)
c.403-37T= (n.403-37T=)
8g.11758257C>TCA2686137356GATA4c.1147-36C>T (n.1147-36C>T)
c.1150-36C>T (n.1150-36C>T)
n.592-36C>T
c.529-36C>T (n.529-36C>T)
c.1144-36C>T (n.1144-36C>T)
c.403-36C>T (n.403-36C>T)
 gnomAD v4
8g.11758258T>ACA1764074028GATA4c.1147-35T>A (n.1147-35T>A)
c.1150-35T>A (n.1150-35T>A)
n.592-35T>A
c.529-35T>A (n.529-35T>A)
c.1144-35T>A (n.1144-35T>A)
c.403-35T>A (n.403-35T>A)
 dbSNP
8g.11758258T=CA1764074027GATA4c.1147-35T= (n.1147-35T=)
c.1150-35T= (n.1150-35T=)
n.592-35T=
c.529-35T= (n.529-35T=)
c.1144-35T= (n.1144-35T=)
c.403-35T= (n.403-35T=)
8g.11758259C>ACA1764074031GATA4c.1147-34C>A (n.1147-34C>A)
c.1150-34C>A (n.1150-34C>A)
n.592-34C>A
c.529-34C>A (n.529-34C>A)
c.1144-34C>A (n.1144-34C>A)
c.403-34C>A (n.403-34C>A)
 dbSNP
8g.11758259C=CA1764074030GATA4c.1147-34C= (n.1147-34C=)
c.1150-34C= (n.1150-34C=)
n.592-34C=
c.529-34C= (n.529-34C=)
c.1144-34C= (n.1144-34C=)
c.403-34C= (n.403-34C=)
8g.11758259C>GCA1764074032GATA4c.1147-34C>G (n.1147-34C>G)
c.1150-34C>G (n.1150-34C>G)
n.592-34C>G
c.529-34C>G (n.529-34C>G)
c.1144-34C>G (n.1144-34C>G)
c.403-34C>G (n.403-34C>G)
 dbSNP
8g.11758260C>TCA2579094228GATA4c.1147-33C>T (n.1147-33C>T)
c.1150-33C>T (n.1150-33C>T)
n.592-33C>T
c.529-33C>T (n.529-33C>T)
c.1144-33C>T (n.1144-33C>T)
c.403-33C>T (n.403-33C>T)
 gnomAD v4
8g.11758261A=CA1764074034GATA4c.1147-32A= (n.1147-32A=)
c.1150-32A= (n.1150-32A=)
n.592-32A=
c.529-32A= (n.529-32A=)
c.1144-32A= (n.1144-32A=)
c.403-32A= (n.403-32A=)
8g.11758261A>GCA846163712GATA4c.1147-32A>G (n.1147-32A>G)
c.1150-32A>G (n.1150-32A>G)
n.592-32A>G
c.529-32A>G (n.529-32A>G)
c.1144-32A>G (n.1144-32A>G)
c.403-32A>G (n.403-32A>G)
 dbSNP gnomAD v4
8g.11758261A>TCA1110747496GATA4c.1147-32A>T (n.1147-32A>T)
c.1150-32A>T (n.1150-32A>T)
n.592-32A>T
c.529-32A>T (n.529-32A>T)
c.1144-32A>T (n.1144-32A>T)
c.403-32A>T (n.403-32A>T)
 dbSNP gnomAD v3 gnomAD v4
8g.11758263G>ACA580031715GATA4c.1147-30G>A (n.1147-30G>A)
c.1150-30G>A (n.1150-30G>A)
n.592-30G>A
c.529-30G>A (n.529-30G>A)
c.1144-30G>A (n.1144-30G>A)
c.403-30G>A (n.403-30G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758263G=CA1764074036GATA4c.1147-30G= (n.1147-30G=)
c.1150-30G= (n.1150-30G=)
n.592-30G=
c.529-30G= (n.529-30G=)
c.1144-30G= (n.1144-30G=)
c.403-30G= (n.403-30G=)
8g.11758263G>TCA2579094229GATA4c.1147-30G>T (n.1147-30G>T)
c.1150-30G>T (n.1150-30G>T)
n.592-30G>T
c.529-30G>T (n.529-30G>T)
c.1144-30G>T (n.1144-30G>T)
c.403-30G>T (n.403-30G>T)
8g.11758264G>ACA4630866GATA4c.1147-29G>A (n.1147-29G>A)
c.1150-29G>A (n.1150-29G>A)
n.592-29G>A
c.529-29G>A (n.529-29G>A)
c.1144-29G>A (n.1144-29G>A)
c.403-29G>A (n.403-29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758264G=CA1764074038GATA4c.1147-29G= (n.1147-29G=)
c.1150-29G= (n.1150-29G=)
n.592-29G=
c.529-29G= (n.529-29G=)
c.1144-29G= (n.1144-29G=)
c.403-29G= (n.403-29G=)
8g.11758264G>TCA580031716GATA4c.1147-29G>T (n.1147-29G>T)
c.1150-29G>T (n.1150-29G>T)
n.592-29G>T
c.529-29G>T (n.529-29G>T)
c.1144-29G>T (n.1144-29G>T)
c.403-29G>T (n.403-29G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758266C>TCA2686137357GATA4c.1147-27C>T (n.1147-27C>T)
c.1150-27C>T (n.1150-27C>T)
n.592-27C>T
c.529-27C>T (n.529-27C>T)
c.1144-27C>T (n.1144-27C>T)
c.403-27C>T (n.403-27C>T)
 gnomAD v4
8g.11758267C=CA1764074041GATA4c.1147-26C= (n.1147-26C=)
c.1150-26C= (n.1150-26C=)
n.592-26C=
c.529-26C= (n.529-26C=)
c.1144-26C= (n.1144-26C=)
c.403-26C= (n.403-26C=)
8g.11758267C>GCA2686137358GATA4c.1147-26C>G (n.1147-26C>G)
c.1150-26C>G (n.1150-26C>G)
n.592-26C>G
c.529-26C>G (n.529-26C>G)
c.1144-26C>G (n.1144-26C>G)
c.403-26C>G (n.403-26C>G)
 gnomAD v4
8g.11758267C>TCA4630867GATA4c.1147-26C>T (n.1147-26C>T)
c.1150-26C>T (n.1150-26C>T)
n.592-26C>T
c.529-26C>T (n.529-26C>T)
c.1144-26C>T (n.1144-26C>T)
c.403-26C>T (n.403-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758268T>ACA1764074045GATA4c.1147-25T>A (n.1147-25T>A)
c.1150-25T>A (n.1150-25T>A)
n.592-25T>A
c.529-25T>A (n.529-25T>A)
c.1144-25T>A (n.1144-25T>A)
c.403-25T>A (n.403-25T>A)
 dbSNP gnomAD v4
8g.11758268T>CCA2779061073GATA4c.1147-25T>C (n.1147-25T>C)
c.1150-25T>C (n.1150-25T>C)
n.592-25T>C
c.529-25T>C (n.529-25T>C)
c.1144-25T>C (n.1144-25T>C)
c.403-25T>C (n.403-25T>C)
8g.11758268T=CA1764074044GATA4c.1147-25T= (n.1147-25T=)
c.1150-25T= (n.1150-25T=)
n.592-25T=
c.529-25T= (n.529-25T=)
c.1144-25T= (n.1144-25T=)
c.403-25T= (n.403-25T=)
8g.11758269C=CA1764074048GATA4c.1147-24C= (n.1147-24C=)
c.1150-24C= (n.1150-24C=)
n.592-24C=
c.529-24C= (n.529-24C=)
c.1144-24C= (n.1144-24C=)
c.403-24C= (n.403-24C=)
8g.11758269C>TCA846163719GATA4c.1147-24C>T (n.1147-24C>T)
c.1150-24C>T (n.1150-24C>T)
n.592-24C>T
c.529-24C>T (n.529-24C>T)
c.1144-24C>T (n.1144-24C>T)
c.403-24C>T (n.403-24C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.11758270A=CA1764074050GATA4c.1147-23A= (n.1147-23A=)
c.1150-23A= (n.1150-23A=)
n.592-23A=
c.529-23A= (n.529-23A=)
c.1144-23A= (n.1144-23A=)
c.403-23A= (n.403-23A=)
8g.11758270A>GCA580031740GATA4c.1147-23A>G (n.1147-23A>G)
c.1150-23A>G (n.1150-23A>G)
n.592-23A>G
c.529-23A>G (n.529-23A>G)
c.1144-23A>G (n.1144-23A>G)
c.403-23A>G (n.403-23A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758271T>ACA2686137359GATA4c.1147-22T>A (n.1147-22T>A)
c.1150-22T>A (n.1150-22T>A)
n.592-22T>A
c.529-22T>A (n.529-22T>A)
c.1144-22T>A (n.1144-22T>A)
c.403-22T>A (n.403-22T>A)
 gnomAD v4
8g.11758272C=CA1764074056GATA4c.1147-21C= (n.1147-21C=)
c.1150-21C= (n.1150-21C=)
n.592-21C=
c.529-21C= (n.529-21C=)
c.1144-21C= (n.1144-21C=)
c.403-21C= (n.403-21C=)
8g.11758272C>GCA172121328GATA4c.1147-21C>G (n.1147-21C>G)
c.1150-21C>G (n.1150-21C>G)
n.592-21C>G
c.529-21C>G (n.529-21C>G)
c.1144-21C>G (n.1144-21C>G)
c.403-21C>G (n.403-21C>G)
 dbSNP gnomAD v4
8g.11758272C>TCA4630868GATA4c.1147-21C>T (n.1147-21C>T)
c.1150-21C>T (n.1150-21C>T)
n.592-21C>T
c.529-21C>T (n.529-21C>T)
c.1144-21C>T (n.1144-21C>T)
c.403-21C>T (n.403-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758272_11758273delinsCGCA1764074054GATA4c.1147-21_1147-20delinsCG (n.1147-21_1147-20delinsCG)
c.1150-21_1150-20delinsCG (n.1150-21_1150-20delinsCG)
n.592-21_592-20delinsCG
c.529-21_529-20delinsCG (n.529-21_529-20delinsCG)
c.1144-21_1144-20delinsCG (n.1144-21_1144-20delinsCG)
c.403-21_403-20delinsCG (n.403-21_403-20delinsCG)
8g.11758273delCA4630869GATA4c.1147-20del (n.1147-20del)
c.1150-20del (n.1150-20del)
n.592-20del
c.529-20del (n.529-20del)
c.1144-20del (n.1144-20del)
c.403-20del (n.403-20del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758273G>ACA4630870GATA4c.1147-20G>A (n.1147-20G>A)
c.1150-20G>A (n.1150-20G>A)
n.592-20G>A
c.529-20G>A (n.529-20G>A)
c.1144-20G>A (n.1144-20G>A)
c.403-20G>A (n.403-20G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758273G>CCA4630871GATA4c.1147-20G>C (n.1147-20G>C)
c.1150-20G>C (n.1150-20G>C)
n.592-20G>C
c.529-20G>C (n.529-20G>C)
c.1144-20G>C (n.1144-20G>C)
c.403-20G>C (n.403-20G>C)
 dbSNP ExAC gnomAD v4
8g.11758273G=CA1764074059GATA4c.1147-20G= (n.1147-20G=)
c.1150-20G= (n.1150-20G=)
n.592-20G=
c.529-20G= (n.529-20G=)
c.1144-20G= (n.1144-20G=)
c.403-20G= (n.403-20G=)
8g.11758273G>TCA172121342GATA4c.1147-20G>T (n.1147-20G>T)
c.1150-20G>T (n.1150-20G>T)
n.592-20G>T
c.529-20G>T (n.529-20G>T)
c.1144-20G>T (n.1144-20G>T)
c.403-20G>T (n.403-20G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.11758274T>CCA2779061074GATA4c.1147-19T>C (n.1147-19T>C)
c.1150-19T>C (n.1150-19T>C)
n.592-19T>C
c.529-19T>C (n.529-19T>C)
c.1144-19T>C (n.1144-19T>C)
c.403-19T>C (n.403-19T>C)
8g.11758275G>ACA4630872GATA4c.1147-18G>A (n.1147-18G>A)
c.1150-18G>A (n.1150-18G>A)
n.592-18G>A
c.529-18G>A (n.529-18G>A)
c.1144-18G>A (n.1144-18G>A)
c.403-18G>A (n.403-18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11758275G>CCA2573142548GATA4c.1147-18G>C (n.1147-18G>C)
c.1150-18G>C (n.1150-18G>C)
n.592-18G>C
c.529-18G>C (n.529-18G>C)
c.1144-18G>C (n.1144-18G>C)
c.403-18G>C (n.403-18G>C)
 ClinVar dbSNP
8g.11758275G=CA1764074062GATA4c.1147-18G= (n.1147-18G=)
c.1150-18G= (n.1150-18G=)
n.592-18G=
c.529-18G= (n.529-18G=)
c.1144-18G= (n.1144-18G=)
c.403-18G= (n.403-18G=)
8g.11758276T>ACA4630873GATA4c.1147-17T>A (n.1147-17T>A)
c.1150-17T>A (n.1150-17T>A)
n.592-17T>A
c.529-17T>A (n.529-17T>A)
c.1144-17T>A (n.1144-17T>A)
c.403-17T>A (n.403-17T>A)
 dbSNP ExAC
8g.11758276T=CA1764074063GATA4c.1147-17T= (n.1147-17T=)
c.1150-17T= (n.1150-17T=)
n.592-17T=
c.529-17T= (n.529-17T=)
c.1144-17T= (n.1144-17T=)
c.403-17T= (n.403-17T=)
8g.11758277G>ACA2579094230GATA4c.1147-16G>A (n.1147-16G>A)
c.1150-16G>A (n.1150-16G>A)
n.592-16G>A
c.529-16G>A (n.529-16G>A)
c.1144-16G>A (n.1144-16G>A)
c.403-16G>A (n.403-16G>A)
8g.11758277G>TCA2686137360GATA4c.1147-16G>T (n.1147-16G>T)
c.1150-16G>T (n.1150-16G>T)
n.592-16G>T
c.529-16G>T (n.529-16G>T)
c.1144-16G>T (n.1144-16G>T)
c.403-16G>T (n.403-16G>T)
 gnomAD v4
8g.11758278C=CA1764074064GATA4c.1147-15C= (n.1147-15C=)
c.1150-15C= (n.1150-15C=)
n.592-15C=
c.529-15C= (n.529-15C=)
c.1144-15C= (n.1144-15C=)
c.403-15C= (n.403-15C=)
8g.11758278C>TCA1764074065GATA4c.1147-15C>T (n.1147-15C>T)
c.1150-15C>T (n.1150-15C>T)
n.592-15C>T
c.529-15C>T (n.529-15C>T)
c.1144-15C>T (n.1144-15C>T)
c.403-15C>T (n.403-15C>T)
 dbSNP
8g.11758279T>CCA4630874GATA4c.1147-14T>C (n.1147-14T>C)
c.1150-14T>C (n.1150-14T>C)
n.592-14T>C
c.529-14T>C (n.529-14T>C)
c.1144-14T>C (n.1144-14T>C)
c.403-14T>C (n.403-14T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11758279T=CA1764074067GATA4c.1147-14T= (n.1147-14T=)
c.1150-14T= (n.1150-14T=)
n.592-14T=
c.529-14T= (n.529-14T=)
c.1144-14T= (n.1144-14T=)
c.403-14T= (n.403-14T=)
8g.11758282C=CA1764074068GATA4c.1147-11C= (n.1147-11C=)
c.1150-11C= (n.1150-11C=)
n.592-11C=
c.529-11C= (n.529-11C=)
c.1144-11C= (n.1144-11C=)
c.403-11C= (n.403-11C=)
8g.11758282C>TCA846163740GATA4c.1147-11C>T (n.1147-11C>T)
c.1150-11C>T (n.1150-11C>T)
n.592-11C>T
c.529-11C>T (n.529-11C>T)
c.1144-11C>T (n.1144-11C>T)
c.403-11C>T (n.403-11C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.11758285C>TCA2686137361GATA4c.1147-8C>T (n.1147-8C>T)
c.1150-8C>T (n.1150-8C>T)
n.592-8C>T
c.529-8C>T (n.529-8C>T)
c.1144-8C>T (n.1144-8C>T)
c.403-8C>T (n.403-8C>T)
 ClinVar gnomAD v4
8g.11758285_11758286delinsCTCA1764074070GATA4c.1147-8_1147-7delinsCT (n.1147-8_1147-7delinsCT)
c.1150-8_1150-7delinsCT (n.1150-8_1150-7delinsCT)
n.592-8_592-7delinsCT
c.529-8_529-7delinsCT (n.529-8_529-7delinsCT)
c.1144-8_1144-7delinsCT (n.1144-8_1144-7delinsCT)
c.403-8_403-7delinsCT (n.403-8_403-7delinsCT)
8g.11758286T>CCA4630875GATA4c.1147-7T>C (n.1147-7T>C)
c.1150-7T>C (n.1150-7T>C)
n.592-7T>C
c.529-7T>C (n.529-7T>C)
c.1144-7T>C (n.1144-7T>C)
c.403-7T>C (n.403-7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758286T=CA1764074073GATA4c.1147-7T= (n.1147-7T=)
c.1150-7T= (n.1150-7T=)
n.592-7T=
c.529-7T= (n.529-7T=)
c.1144-7T= (n.1144-7T=)
c.403-7T= (n.403-7T=)
8g.11758289delCA1764074076GATA4c.1147-4del (n.1147-4del)
c.1150-4del (n.1150-4del)
n.592-4del
c.529-4del (n.529-4del)
c.1144-4del (n.1144-4del)
c.403-4del (n.403-4del)
 dbSNP
8g.11758290C>GCA2697549754GATA4c.1147-3C>G (n.1147-3C>G)
c.1150-3C>G (n.1150-3C>G)
n.592-3C>G
c.529-3C>G (n.529-3C>G)
c.1144-3C>G (n.1144-3C>G)
c.403-3C>G (n.403-3C>G)
 ClinVar
8g.11758290C>TCA645543525GATA4c.1147-3C>T (n.1147-3C>T)
c.1150-3C>T (n.1150-3C>T)
n.592-3C>T
c.529-3C>T (n.529-3C>T)
c.1144-3C>T (n.1144-3C>T)
c.403-3C>T (n.403-3C>T)
 COSMIC
8g.11758291A>CCA370315521GATA4c.1147-2A>C (n.1147-2A>C)
c.1150-2A>C (n.1150-2A>C)
n.592-2A>C
c.529-2A>C (n.529-2A>C)
c.1144-2A>C (n.1144-2A>C)
c.403-2A>C (n.403-2A>C)
8g.11758291A>GCA370315522GATA4c.1147-2A>G (n.1147-2A>G)
c.1150-2A>G (n.1150-2A>G)
n.592-2A>G
c.529-2A>G (n.529-2A>G)
c.1144-2A>G (n.1144-2A>G)
c.403-2A>G (n.403-2A>G)
8g.11758291A>TCA370315523GATA4c.1147-2A>T (n.1147-2A>T)
c.1150-2A>T (n.1150-2A>T)
n.592-2A>T
c.529-2A>T (n.529-2A>T)
c.1144-2A>T (n.1144-2A>T)
c.403-2A>T (n.403-2A>T)
8g.11758292G>ACA370315524GATA4c.1147-1G>A (n.1147-1G>A)
c.1150-1G>A (n.1150-1G>A)
n.592-1G>A
c.529-1G>A (n.529-1G>A)
c.1144-1G>A (n.1144-1G>A)
c.403-1G>A (n.403-1G>A)
 gnomAD v4
8g.11758292G>CCA370315525GATA4c.1147-1G>C (n.1147-1G>C)
c.1150-1G>C (n.1150-1G>C)
n.592-1G>C
c.529-1G>C (n.529-1G>C)
c.1144-1G>C (n.1144-1G>C)
c.403-1G>C (n.403-1G>C)
8g.11758292G>TCA370315526GATA4c.1147-1G>T (n.1147-1G>T)
c.1150-1G>T (n.1150-1G>T)
n.592-1G>T
c.529-1G>T (n.529-1G>T)
c.1144-1G>T (n.1144-1G>T)
c.403-1G>T (n.403-1G>T)
8g.11758293A>CCA370315527GATA4c.1147A>C (p.Thr383Pro)
c.1150A>C (p.Thr384Pro)
n.592A>C
c.529A>C (p.Thr177Pro)
c.1144A>C (p.Thr382Pro)
c.403A>C (p.Thr135Pro)
 dbSNP gnomAD v4
8g.11758293A>GCA370315528GATA4c.1147A>G (p.Thr383Ala)
c.1150A>G (p.Thr384Ala)
n.592A>G
c.529A>G (p.Thr177Ala)
c.1144A>G (p.Thr382Ala)
c.403A>G (p.Thr135Ala)
8g.11758293A>TCA370315529GATA4c.1147A>T (p.Thr383Ser)
c.1150A>T (p.Thr384Ser)
n.592A>T
c.529A>T (p.Thr177Ser)
c.1144A>T (p.Thr382Ser)
c.403A>T (p.Thr135Ser)
8g.11758294C>ACA370315530GATA4c.1148C>A (p.Thr383Lys)
c.1151C>A (p.Thr384Lys)
n.593C>A
c.530C>A (p.Thr177Lys)
c.1145C>A (p.Thr382Lys)
c.404C>A (p.Thr135Lys)
8g.11758294C=CA1764074083GATA4c.1148C= (p.Thr383=)
c.1151C= (p.Thr384=)
n.593C=
c.530C= (p.Thr177=)
c.1145C= (p.Thr382=)
c.404C= (p.Thr135=)
8g.11758294C>GCA370315531GATA4c.1148C>G (p.Thr383Arg)
c.1151C>G (p.Thr384Arg)
n.593C>G
c.530C>G (p.Thr177Arg)
c.1145C>G (p.Thr382Arg)
c.404C>G (p.Thr135Arg)
8g.11758294C>TCA4630876GATA4c.1148C>T (p.Thr383Met)
c.1151C>T (p.Thr384Met)
n.593C>T
c.530C>T (p.Thr177Met)
c.1145C>T (p.Thr382Met)
c.404C>T (p.Thr135Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758295G>ACA4630877GATA4c.1149G>A (p.Thr383=)
c.1152G>A (p.Thr384=)
n.594G>A
c.531G>A (p.Thr177=)
c.1146G>A (p.Thr382=)
c.405G>A (p.Thr135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758295G>CCA459314019GATA4c.1149G>C (p.Thr383=)
c.1152G>C (p.Thr384=)
n.594G>C
c.531G>C (p.Thr177=)
c.1146G>C (p.Thr382=)
c.405G>C (p.Thr135=)
 gnomAD v4
8g.11758295G=CA1764074090GATA4c.1149G= (p.Thr383=)
c.1152G= (p.Thr384=)
n.594G=
c.531G= (p.Thr177=)
c.1146G= (p.Thr382=)
c.405G= (p.Thr135=)
8g.11758295G>TCA459314021GATA4c.1149G>T (p.Thr383=)
c.1152G>T (p.Thr384=)
n.594G>T
c.531G>T (p.Thr177=)
c.1146G>T (p.Thr382=)
c.405G>T (p.Thr135=)
8g.11758296T>ACA370315534GATA4c.1150T>A (p.Phe384Ile)
c.1153T>A (p.Phe385Ile)
n.595T>A
c.532T>A (p.Phe178Ile)
c.1147T>A (p.Phe383Ile)
c.406T>A (p.Phe136Ile)
8g.11758296T>CCA370315533GATA4c.1150T>C (p.Phe384Leu)
c.1153T>C (p.Phe385Leu)
n.595T>C
c.532T>C (p.Phe178Leu)
c.1147T>C (p.Phe383Leu)
c.406T>C (p.Phe136Leu)
8g.11758296T>GCA370315532GATA4c.1150T>G (p.Phe384Val)
c.1153T>G (p.Phe385Val)
n.595T>G
c.532T>G (p.Phe178Val)
c.1147T>G (p.Phe383Val)
c.406T>G (p.Phe136Val)
8g.11758297T>ACA370315535GATA4c.1151T>A (p.Phe384Tyr)
c.1154T>A (p.Phe385Tyr)
n.596T>A
c.533T>A (p.Phe178Tyr)
c.1148T>A (p.Phe383Tyr)
c.407T>A (p.Phe136Tyr)
8g.11758297T>CCA370315536GATA4c.1151T>C (p.Phe384Ser)
c.1154T>C (p.Phe385Ser)
n.596T>C
c.533T>C (p.Phe178Ser)
c.1148T>C (p.Phe383Ser)
c.407T>C (p.Phe136Ser)
8g.11758297T>GCA370315537GATA4c.1151T>G (p.Phe384Cys)
c.1154T>G (p.Phe385Cys)
n.596T>G
c.533T>G (p.Phe178Cys)
c.1148T>G (p.Phe383Cys)
c.407T>G (p.Phe136Cys)
8g.11758298C>ACA370315538GATA4c.1152C>A (p.Phe384Leu)
c.1155C>A (p.Phe385Leu)
n.597C>A
c.534C>A (p.Phe178Leu)
c.1149C>A (p.Phe383Leu)
c.408C>A (p.Phe136Leu)
8g.11758298C=CA1764074095GATA4c.1152C= (p.Phe384=)
c.1155C= (p.Phe385=)
n.597C=
c.534C= (p.Phe178=)
c.1149C= (p.Phe383=)
c.408C= (p.Phe136=)
8g.11758298C>GCA172121361GATA4c.1152C>G (p.Phe384Leu)
c.1155C>G (p.Phe385Leu)
n.597C>G
c.534C>G (p.Phe178Leu)
c.1149C>G (p.Phe383Leu)
c.408C>G (p.Phe136Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758298C>TCA172121369GATA4c.1152C>T (p.Phe384=)
c.1155C>T (p.Phe385=)
n.597C>T
c.534C>T (p.Phe178=)
c.1149C>T (p.Phe383=)
c.408C>T (p.Phe136=)
 dbSNP gnomAD v3 gnomAD v4
8g.11758299T>ACA370315539GATA4c.1153T>A (p.Ser385Thr)
c.1156T>A (p.Ser386Thr)
n.598T>A
c.535T>A (p.Ser179Thr)
c.1150T>A (p.Ser384Thr)
c.409T>A (p.Ser137Thr)
8g.11758299T>CCA370315540GATA4c.1153T>C (p.Ser385Pro)
c.1156T>C (p.Ser386Pro)
n.598T>C
c.535T>C (p.Ser179Pro)
c.1150T>C (p.Ser384Pro)
c.409T>C (p.Ser137Pro)
8g.11758299T>GCA370315541GATA4c.1153T>G (p.Ser385Ala)
c.1156T>G (p.Ser386Ala)
n.598T>G
c.535T>G (p.Ser179Ala)
c.1150T>G (p.Ser384Ala)
c.409T>G (p.Ser137Ala)
8g.11758300C>ACA370315542GATA4c.1154C>A (p.Ser385Ter)
c.1157C>A (p.Ser386Ter)
n.599C>A
c.536C>A (p.Ser179Ter)
c.1151C>A (p.Ser384Ter)
c.410C>A (p.Ser137Ter)
8g.11758300C=CA1764074098GATA4c.1154C= (p.Ser385=)
c.1157C= (p.Ser386=)
n.599C=
c.536C= (p.Ser179=)
c.1151C= (p.Ser384=)
c.410C= (p.Ser137=)
8g.11758300C>GCA370315543GATA4c.1154C>G (p.Ser385Ter)
c.1157C>G (p.Ser386Ter)
n.599C>G
c.536C>G (p.Ser179Ter)
c.1151C>G (p.Ser384Ter)
c.410C>G (p.Ser137Ter)
8g.11758300C>TCA370315544GATA4c.1154C>T (p.Ser385Leu)
c.1157C>T (p.Ser386Leu)
n.599C>T
c.536C>T (p.Ser179Leu)
c.1151C>T (p.Ser384Leu)
c.410C>T (p.Ser137Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758301A>CCA459314025GATA4c.1155A>C (p.Ser385=)
c.1158A>C (p.Ser386=)
n.600A>C
c.537A>C (p.Ser179=)
c.1152A>C (p.Ser384=)
c.411A>C (p.Ser137=)
8g.11758301A>GCA459314026GATA4c.1155A>G (p.Ser385=)
c.1158A>G (p.Ser386=)
n.600A>G
c.537A>G (p.Ser179=)
c.1152A>G (p.Ser384=)
c.411A>G (p.Ser137=)
8g.11758301A>TCA459314027GATA4c.1155A>T (p.Ser385=)
c.1158A>T (p.Ser386=)
n.600A>T
c.537A>T (p.Ser179=)
c.1152A>T (p.Ser384=)
c.411A>T (p.Ser137=)
8g.11758302G>ACA370315545GATA4c.1156G>A (p.Val386Ile)
c.1159G>A (p.Val387Ile)
n.601G>A
c.538G>A (p.Val180Ile)
c.1153G>A (p.Val385Ile)
c.412G>A (p.Val138Ile)
 dbSNP
8g.11758302G>CCA370315546GATA4c.1156G>C (p.Val386Leu)
c.1159G>C (p.Val387Leu)
n.601G>C
c.538G>C (p.Val180Leu)
c.1153G>C (p.Val385Leu)
c.412G>C (p.Val138Leu)
8g.11758302G=CA1764074100GATA4c.1156G= (p.Val386=)
c.1159G= (p.Val387=)
n.601G=
c.538G= (p.Val180=)
c.1153G= (p.Val385=)
c.412G= (p.Val138=)
8g.11758302G>TCA370315547GATA4c.1156G>T (p.Val386Phe)
c.1159G>T (p.Val387Phe)
n.601G>T
c.538G>T (p.Val180Phe)
c.1153G>T (p.Val385Phe)
c.412G>T (p.Val138Phe)
 dbSNP
8g.11758303T>ACA370315549GATA4c.1157T>A (p.Val386Asp)
c.1160T>A (p.Val387Asp)
n.602T>A
c.539T>A (p.Val180Asp)
c.1154T>A (p.Val385Asp)
c.413T>A (p.Val138Asp)
8g.11758303T>CCA172121374GATA4c.1157T>C (p.Val386Ala)
c.1160T>C (p.Val387Ala)
n.602T>C
c.539T>C (p.Val180Ala)
c.1154T>C (p.Val385Ala)
c.413T>C (p.Val138Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11758303T>GCA370315548GATA4c.1157T>G (p.Val386Gly)
c.1160T>G (p.Val387Gly)
n.602T>G
c.539T>G (p.Val180Gly)
c.1154T>G (p.Val385Gly)
c.413T>G (p.Val138Gly)
8g.11758303T=CA1764074104GATA4c.1157T= (p.Val386=)
c.1160T= (p.Val387=)
n.602T=
c.539T= (p.Val180=)
c.1154T= (p.Val385=)
c.413T= (p.Val138=)
8g.11758304C>ACA459314029GATA4c.1158C>A (p.Val386=)
c.1161C>A (p.Val387=)
n.603C>A
c.540C>A (p.Val180=)
c.1155C>A (p.Val385=)
c.414C>A (p.Val138=)
8g.11758304C=CA1764074109GATA4c.1158C= (p.Val386=)
c.1161C= (p.Val387=)
n.603C=
c.540C= (p.Val180=)
c.1155C= (p.Val385=)
c.414C= (p.Val138=)
8g.11758304C>GCA459314030GATA4c.1158C>G (p.Val386=)
c.1161C>G (p.Val387=)
n.603C>G
c.540C>G (p.Val180=)
c.1155C>G (p.Val385=)
c.414C>G (p.Val138=)
8g.11758304C>TCA4630878GATA4c.1158C>T (p.Val386=)
c.1161C>T (p.Val387=)
n.603C>T
c.540C>T (p.Val180=)
c.1155C>T (p.Val385=)
c.414C>T (p.Val138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758305A=CA1764074111GATA4c.1159A= (p.Ser387=)
c.1162A= (p.Ser388=)
n.604A=
c.541A= (p.Ser181=)
c.1156A= (p.Ser386=)
c.415A= (p.Ser139=)
8g.11758305A>CCA370315550GATA4c.1159A>C (p.Ser387Arg)
c.1162A>C (p.Ser388Arg)
n.604A>C
c.541A>C (p.Ser181Arg)
c.1156A>C (p.Ser386Arg)
c.415A>C (p.Ser139Arg)
8g.11758305A>GCA370315551GATA4c.1159A>G (p.Ser387Gly)
c.1162A>G (p.Ser388Gly)
n.604A>G
c.541A>G (p.Ser181Gly)
c.1156A>G (p.Ser386Gly)
c.415A>G (p.Ser139Gly)
8g.11758305A>TCA370315552GATA4c.1159A>T (p.Ser387Cys)
c.1162A>T (p.Ser388Cys)
n.604A>T
c.541A>T (p.Ser181Cys)
c.1156A>T (p.Ser386Cys)
c.415A>T (p.Ser139Cys)
 dbSNP
8g.11758306G>ACA370315553GATA4c.1160G>A (p.Ser387Asn)
c.1163G>A (p.Ser388Asn)
n.605G>A
c.542G>A (p.Ser181Asn)
c.1157G>A (p.Ser386Asn)
c.416G>A (p.Ser139Asn)
8g.11758306G>CCA370315554GATA4c.1160G>C (p.Ser387Thr)
c.1163G>C (p.Ser388Thr)
n.605G>C
c.542G>C (p.Ser181Thr)
c.1157G>C (p.Ser386Thr)
c.416G>C (p.Ser139Thr)
8g.11758306G>TCA370315555GATA4c.1160G>T (p.Ser387Ile)
c.1163G>T (p.Ser388Ile)
n.605G>T
c.542G>T (p.Ser181Ile)
c.1157G>T (p.Ser386Ile)
c.416G>T (p.Ser139Ile)
8g.11758307T>ACA370315556GATA4c.1161T>A (p.Ser387Arg)
c.1164T>A (p.Ser388Arg)
n.606T>A
c.543T>A (p.Ser181Arg)
c.1158T>A (p.Ser386Arg)
c.417T>A (p.Ser139Arg)
8g.11758307T>CCA459314034GATA4c.1161T>C (p.Ser387=)
c.1164T>C (p.Ser388=)
n.606T>C
c.543T>C (p.Ser181=)
c.1158T>C (p.Ser386=)
c.417T>C (p.Ser139=)
8g.11758307T>GCA370315557GATA4c.1161T>G (p.Ser387Arg)
c.1164T>G (p.Ser388Arg)
n.606T>G
c.543T>G (p.Ser181Arg)
c.1158T>G (p.Ser386Arg)
c.417T>G (p.Ser139Arg)
8g.11758308G>ACA172121384GATA4c.1162G>A (p.Ala388Thr)
c.1165G>A (p.Ala389Thr)
n.607G>A
c.544G>A (p.Ala182Thr)
c.1159G>A (p.Ala387Thr)
c.418G>A (p.Ala140Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758308G>CCA370315558GATA4c.1162G>C (p.Ala388Pro)
c.1165G>C (p.Ala389Pro)
n.607G>C
c.544G>C (p.Ala182Pro)
c.1159G>C (p.Ala387Pro)
c.418G>C (p.Ala140Pro)
8g.11758308G=CA1764074112GATA4c.1162G= (p.Ala388=)
c.1165G= (p.Ala389=)
n.607G=
c.544G= (p.Ala182=)
c.1159G= (p.Ala387=)
c.418G= (p.Ala140=)
8g.11758308G>TCA370315559GATA4c.1162G>T (p.Ala388Ser)
c.1165G>T (p.Ala389Ser)
n.607G>T
c.544G>T (p.Ala182Ser)
c.1159G>T (p.Ala387Ser)
c.418G>T (p.Ala140Ser)
8g.11758309C>ACA172121394GATA4c.1163C>A (p.Ala388Glu)
c.1166C>A (p.Ala389Glu)
n.608C>A
c.545C>A (p.Ala182Glu)
c.1160C>A (p.Ala387Glu)
c.419C>A (p.Ala140Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758309C=CA1764074113GATA4c.1163C= (p.Ala388=)
c.1166C= (p.Ala389=)
n.608C=
c.545C= (p.Ala182=)
c.1160C= (p.Ala387=)
c.419C= (p.Ala140=)
8g.11758309C>GCA370315560GATA4c.1163C>G (p.Ala388Gly)
c.1166C>G (p.Ala389Gly)
n.608C>G
c.545C>G (p.Ala182Gly)
c.1160C>G (p.Ala387Gly)
c.419C>G (p.Ala140Gly)
8g.11758309C>TCA4630879GATA4c.1163C>T (p.Ala388Val)
c.1166C>T (p.Ala389Val)
n.608C>T
c.545C>T (p.Ala182Val)
c.1160C>T (p.Ala387Val)
c.419C>T (p.Ala140Val)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
8g.11758310G>ACA4630880GATA4c.1164G>A (p.Ala388=)
c.1167G>A (p.Ala389=)
n.609G>A
c.546G>A (p.Ala182=)
c.1161G>A (p.Ala387=)
c.420G>A (p.Ala140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758310G>CCA172121398GATA4c.1164G>C (p.Ala388=)
c.1167G>C (p.Ala389=)
n.609G>C
c.546G>C (p.Ala182=)
c.1161G>C (p.Ala387=)
c.420G>C (p.Ala140=)
 dbSNP
8g.11758310G=CA1764074114GATA4c.1164G= (p.Ala388=)
c.1167G= (p.Ala389=)
n.609G=
c.546G= (p.Ala182=)
c.1161G= (p.Ala387=)
c.420G= (p.Ala140=)
8g.11758310G>TCA4630881GATA4c.1164G>T (p.Ala388=)
c.1167G>T (p.Ala389=)
n.609G>T
c.546G>T (p.Ala182=)
c.1161G>T (p.Ala387=)
c.420G>T (p.Ala140=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11758311A>CCA370315561GATA4c.1165A>C (p.Met389Leu)
c.1168A>C (p.Met390Leu)
n.610A>C
c.547A>C (p.Met183Leu)
c.1162A>C (p.Met388Leu)
c.421A>C (p.Met141Leu)
 COSMIC
8g.11758311A>GCA370315562GATA4c.1165A>G (p.Met389Val)
c.1168A>G (p.Met390Val)
n.610A>G
c.547A>G (p.Met183Val)
c.1162A>G (p.Met388Val)
c.421A>G (p.Met141Val)
 gnomAD v4
8g.11758311A>TCA370315563GATA4c.1165A>T (p.Met389Leu)
c.1168A>T (p.Met390Leu)
n.610A>T
c.547A>T (p.Met183Leu)
c.1162A>T (p.Met388Leu)
c.421A>T (p.Met141Leu)
8g.11758312T>ACA370315564GATA4c.1166T>A (p.Met389Lys)
c.1169T>A (p.Met390Lys)
n.611T>A
c.548T>A (p.Met183Lys)
c.1163T>A (p.Met388Lys)
c.422T>A (p.Met141Lys)
8g.11758312T>CCA370315565GATA4c.1166T>C (p.Met389Thr)
c.1169T>C (p.Met390Thr)
n.611T>C
c.548T>C (p.Met183Thr)
c.1163T>C (p.Met388Thr)
c.422T>C (p.Met141Thr)
 dbSNP gnomAD v4
8g.11758312T>GCA370315566GATA4c.1166T>G (p.Met389Arg)
c.1169T>G (p.Met390Arg)
n.611T>G
c.548T>G (p.Met183Arg)
c.1163T>G (p.Met388Arg)
c.422T>G (p.Met141Arg)
8g.11758312T=CA1764074115GATA4c.1166T= (p.Met389=)
c.1169T= (p.Met390=)
n.611T=
c.548T= (p.Met183=)
c.1163T= (p.Met388=)
c.422T= (p.Met141=)
8g.11758313G>ACA370315567GATA4c.1167G>A (p.Met389Ile)
c.1170G>A (p.Met390Ile)
n.612G>A
c.549G>A (p.Met183Ile)
c.1164G>A (p.Met388Ile)
c.423G>A (p.Met141Ile)
8g.11758313G>CCA370315568GATA4c.1167G>C (p.Met389Ile)
c.1170G>C (p.Met390Ile)
n.612G>C
c.549G>C (p.Met183Ile)
c.1164G>C (p.Met388Ile)
c.423G>C (p.Met141Ile)
8g.11758313G>TCA370315569GATA4c.1167G>T (p.Met389Ile)
c.1170G>T (p.Met390Ile)
n.612G>T
c.549G>T (p.Met183Ile)
c.1164G>T (p.Met388Ile)
c.423G>T (p.Met141Ile)
8g.11758314T>ACA172121402GATA4c.1168T>A (p.Ser390Thr)
c.1171T>A (p.Ser391Thr)
n.613T>A
c.550T>A (p.Ser184Thr)
c.1165T>A (p.Ser389Thr)
c.424T>A (p.Ser142Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758314T>CCA370315571GATA4c.1168T>C (p.Ser390Pro)
c.1171T>C (p.Ser391Pro)
n.613T>C
c.550T>C (p.Ser184Pro)
c.1165T>C (p.Ser389Pro)
c.424T>C (p.Ser142Pro)
8g.11758314T>GCA370315570GATA4c.1168T>G (p.Ser390Ala)
c.1171T>G (p.Ser391Ala)
n.613T>G
c.550T>G (p.Ser184Ala)
c.1165T>G (p.Ser389Ala)
c.424T>G (p.Ser142Ala)
8g.11758314T=CA1764074116GATA4c.1168T= (p.Ser390=)
c.1171T= (p.Ser391=)
n.613T=
c.550T= (p.Ser184=)
c.1165T= (p.Ser389=)
c.424T= (p.Ser142=)
8g.11758315C>ACA370315572GATA4c.1169C>A (p.Ser390Tyr)
c.1172C>A (p.Ser391Tyr)
n.614C>A
c.551C>A (p.Ser184Tyr)
c.1166C>A (p.Ser389Tyr)
c.425C>A (p.Ser142Tyr)
8g.11758315C>GCA370315574GATA4c.1169C>G (p.Ser390Cys)
c.1172C>G (p.Ser391Cys)
n.614C>G
c.551C>G (p.Ser184Cys)
c.1166C>G (p.Ser389Cys)
c.425C>G (p.Ser142Cys)
8g.11758315C>TCA370315573GATA4c.1169C>T (p.Ser390Phe)
c.1172C>T (p.Ser391Phe)
n.614C>T
c.551C>T (p.Ser184Phe)
c.1166C>T (p.Ser389Phe)
c.425C>T (p.Ser142Phe)
8g.11758316T>ACA459314036GATA4c.1170T>A (p.Ser390=)
c.1173T>A (p.Ser391=)
n.615T>A
c.552T>A (p.Ser184=)
c.1167T>A (p.Ser389=)
c.426T>A (p.Ser142=)
8g.11758316T>CCA459314038GATA4c.1170T>C (p.Ser390=)
c.1173T>C (p.Ser391=)
n.615T>C
c.552T>C (p.Ser184=)
c.1167T>C (p.Ser389=)
c.426T>C (p.Ser142=)
 gnomAD v4
8g.11758316T>GCA459314037GATA4c.1170T>G (p.Ser390=)
c.1173T>G (p.Ser391=)
n.615T>G
c.552T>G (p.Ser184=)
c.1167T>G (p.Ser389=)
c.426T>G (p.Ser142=)
8g.11758317G>ACA370315575GATA4c.1171G>A (p.Gly391Ser)
c.1174G>A (p.Gly392Ser)
n.616G>A
c.553G>A (p.Gly185Ser)
c.1168G>A (p.Gly390Ser)
c.427G>A (p.Gly143Ser)
8g.11758317G>CCA370315576GATA4c.1171G>C (p.Gly391Arg)
c.1174G>C (p.Gly392Arg)
n.616G>C
c.553G>C (p.Gly185Arg)
c.1168G>C (p.Gly390Arg)
c.427G>C (p.Gly143Arg)
8g.11758317G>TCA370315577GATA4c.1171G>T (p.Gly391Cys)
c.1174G>T (p.Gly392Cys)
n.616G>T
c.553G>T (p.Gly185Cys)
c.1168G>T (p.Gly390Cys)
c.427G>T (p.Gly143Cys)
8g.11758318G>ACA370315578GATA4c.1172G>A (p.Gly391Asp)
c.1175G>A (p.Gly392Asp)
n.617G>A
c.554G>A (p.Gly185Asp)
c.1169G>A (p.Gly390Asp)
c.428G>A (p.Gly143Asp)
 COSMIC
8g.11758318G>CCA4630882GATA4c.1172G>C (p.Gly391Ala)
c.1175G>C (p.Gly392Ala)
n.617G>C
c.554G>C (p.Gly185Ala)
c.1169G>C (p.Gly390Ala)
c.428G>C (p.Gly143Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758318G=CA1764074117GATA4c.1172G= (p.Gly391=)
c.1175G= (p.Gly392=)
n.617G=
c.554G= (p.Gly185=)
c.1169G= (p.Gly390=)
c.428G= (p.Gly143=)
8g.11758318G>TCA370315579GATA4c.1172G>T (p.Gly391Val)
c.1175G>T (p.Gly392Val)
n.617G>T
c.554G>T (p.Gly185Val)
c.1169G>T (p.Gly390Val)
c.428G>T (p.Gly143Val)
 ClinVar dbSNP
8g.11758319C>ACA459314042GATA4c.1173C>A (p.Gly391=)
c.1176C>A (p.Gly392=)
n.618C>A
c.555C>A (p.Gly185=)
c.1170C>A (p.Gly390=)
c.429C>A (p.Gly143=)
8g.11758319C>GCA459314044GATA4c.1173C>G (p.Gly391=)
c.1176C>G (p.Gly392=)
n.618C>G
c.555C>G (p.Gly185=)
c.1170C>G (p.Gly390=)
c.429C>G (p.Gly143=)
8g.11758319C>TCA459314046GATA4c.1173C>T (p.Gly391=)
c.1176C>T (p.Gly392=)
n.618C>T
c.555C>T (p.Gly185=)
c.1170C>T (p.Gly390=)
c.429C>T (p.Gly143=)
8g.11758320C>ACA370315582GATA4c.1174C>A (p.His392Asn)
c.1177C>A (p.His393Asn)
n.619C>A
c.556C>A (p.His186Asn)
c.1171C>A (p.His391Asn)
c.430C>A (p.His144Asn)
8g.11758320C=CA1764074118GATA4c.1174C= (p.His392=)
c.1177C= (p.His393=)
n.619C=
c.556C= (p.His186=)
c.1171C= (p.His391=)
c.430C= (p.His144=)
8g.11758320C>GCA370315580GATA4c.1174C>G (p.His392Asp)
c.1177C>G (p.His393Asp)
n.619C>G
c.556C>G (p.His186Asp)
c.1171C>G (p.His391Asp)
c.430C>G (p.His144Asp)
8g.11758320C>TCA370315581GATA4c.1174C>T (p.His392Tyr)
c.1177C>T (p.His393Tyr)
n.619C>T
c.556C>T (p.His186Tyr)
c.1171C>T (p.His391Tyr)
c.430C>T (p.His144Tyr)
 ClinVar dbSNP
8g.11758321A=CA1764074119GATA4c.1175A= (p.His392=)
c.1178A= (p.His393=)
n.620A=
c.557A= (p.His186=)
c.1172A= (p.His391=)
c.431A= (p.His144=)
8g.11758321A>CCA4630883GATA4c.1175A>C (p.His392Pro)
c.1178A>C (p.His393Pro)
n.620A>C
c.557A>C (p.His186Pro)
c.1172A>C (p.His391Pro)
c.431A>C (p.His144Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758321A>GCA172121414GATA4c.1175A>G (p.His392Arg)
c.1178A>G (p.His393Arg)
n.620A>G
c.557A>G (p.His186Arg)
c.1172A>G (p.His391Arg)
c.431A>G (p.His144Arg)
 ClinVar dbSNP gnomAD v4
8g.11758321A>TCA370315583GATA4c.1175A>T (p.His392Leu)
c.1178A>T (p.His393Leu)
n.620A>T
c.557A>T (p.His186Leu)
c.1172A>T (p.His391Leu)
c.431A>T (p.His144Leu)
 ClinVar
8g.11758322T>ACA370315584GATA4c.1176T>A (p.His392Gln)
c.1179T>A (p.His393Gln)
n.621T>A
c.558T>A (p.His186Gln)
c.1173T>A (p.His391Gln)
c.432T>A (p.His144Gln)
8g.11758322T>CCA459314050GATA4c.1176T>C (p.His392=)
c.1179T>C (p.His393=)
n.621T>C
c.558T>C (p.His186=)
c.1173T>C (p.His391=)
c.432T>C (p.His144=)
 gnomAD v4
8g.11758322T>GCA370315585GATA4c.1176T>G (p.His392Gln)
c.1179T>G (p.His393Gln)
n.621T>G
c.558T>G (p.His186Gln)
c.1173T>G (p.His391Gln)
c.432T>G (p.His144Gln)
8g.11758323G>ACA370315588GATA4c.1177G>A (p.Gly393Arg)
c.1180G>A (p.Gly394Arg)
n.622G>A
c.559G>A (p.Gly187Arg)
c.1174G>A (p.Gly392Arg)
c.433G>A (p.Gly145Arg)
 COSMIC
8g.11758323G>CCA370315586GATA4c.1177G>C (p.Gly393Arg)
c.1180G>C (p.Gly394Arg)
n.622G>C
c.559G>C (p.Gly187Arg)
c.1174G>C (p.Gly392Arg)
c.433G>C (p.Gly145Arg)
8g.11758323G>TCA370315587GATA4c.1177G>T (p.Gly393Trp)
c.1180G>T (p.Gly394Trp)
n.622G>T
c.559G>T (p.Gly187Trp)
c.1174G>T (p.Gly392Trp)
c.433G>T (p.Gly145Trp)
8g.11758324G>ACA172121418GATA4c.1178G>A (p.Gly393Glu)
c.1181G>A (p.Gly394Glu)
n.623G>A
c.560G>A (p.Gly187Glu)
c.1175G>A (p.Gly392Glu)
c.434G>A (p.Gly145Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758324G>CCA370315589GATA4c.1178G>C (p.Gly393Ala)
c.1181G>C (p.Gly394Ala)
n.623G>C
c.560G>C (p.Gly187Ala)
c.1175G>C (p.Gly392Ala)
c.434G>C (p.Gly145Ala)
8g.11758324G=CA1764074120GATA4c.1178G= (p.Gly393=)
c.1181G= (p.Gly394=)
n.623G=
c.560G= (p.Gly187=)
c.1175G= (p.Gly392=)
c.434G= (p.Gly145=)
8g.11758324G>TCA370315590GATA4c.1178G>T (p.Gly393Val)
c.1181G>T (p.Gly394Val)
n.623G>T
c.560G>T (p.Gly187Val)
c.1175G>T (p.Gly392Val)
c.434G>T (p.Gly145Val)
 ClinVar gnomAD v4
8g.11758325G>ACA459314052GATA4c.1179G>A (p.Gly393=)
c.1182G>A (p.Gly394=)
n.624G>A
c.561G>A (p.Gly187=)
c.1176G>A (p.Gly392=)
c.435G>A (p.Gly145=)
8g.11758325G>CCA459314053GATA4c.1179G>C (p.Gly393=)
c.1182G>C (p.Gly394=)
n.624G>C
c.561G>C (p.Gly187=)
c.1176G>C (p.Gly392=)
c.435G>C (p.Gly145=)
8g.11758325G>TCA459314054GATA4c.1179G>T (p.Gly393=)
c.1182G>T (p.Gly394=)
n.624G>T
c.561G>T (p.Gly187=)
c.1176G>T (p.Gly392=)
c.435G>T (p.Gly145=)
 gnomAD v4
8g.11758326C>ACA4630884GATA4c.1180C>A (p.Pro394Thr)
c.1183C>A (p.Pro395Thr)
n.625C>A
c.562C>A (p.Pro188Thr)
c.1177C>A (p.Pro393Thr)
c.436C>A (p.Pro146Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758326C=CA1764074121GATA4c.1180C= (p.Pro394=)
c.1183C= (p.Pro395=)
n.625C=
c.562C= (p.Pro188=)
c.1177C= (p.Pro393=)
c.436C= (p.Pro146=)
8g.11758326C>GCA370315591GATA4c.1180C>G (p.Pro394Ala)
c.1183C>G (p.Pro395Ala)
n.625C>G
c.562C>G (p.Pro188Ala)
c.1177C>G (p.Pro393Ala)
c.436C>G (p.Pro146Ala)
8g.11758326C>TCA370315592GATA4c.1180C>T (p.Pro394Ser)
c.1183C>T (p.Pro395Ser)
n.625C>T
c.562C>T (p.Pro188Ser)
c.1177C>T (p.Pro393Ser)
c.436C>T (p.Pro146Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.11758327C>ACA370315593GATA4c.1181C>A (p.Pro394His)
c.1184C>A (p.Pro395His)
n.626C>A
c.563C>A (p.Pro188His)
c.1178C>A (p.Pro393His)
c.437C>A (p.Pro146His)
8g.11758327C>GCA370315594GATA4c.1181C>G (p.Pro394Arg)
c.1184C>G (p.Pro395Arg)
n.626C>G
c.563C>G (p.Pro188Arg)
c.1178C>G (p.Pro393Arg)
c.437C>G (p.Pro146Arg)
 gnomAD v4
8g.11758327C>TCA370315595GATA4c.1181C>T (p.Pro394Leu)
c.1184C>T (p.Pro395Leu)
n.626C>T
c.563C>T (p.Pro188Leu)
c.1178C>T (p.Pro393Leu)
c.437C>T (p.Pro146Leu)
8g.11758327_11758330delinsCCTCCA1764074122GATA4c.1181_1184delinsCCTC (p.Pro394=)
c.1184_1187delinsCCTC (p.Pro395=)
n.626_629delinsCCTC
c.563_566delinsCCTC (p.Pro188=)
c.1178_1181delinsCCTC (p.Pro393=)
c.437_440delinsCCTC (p.Pro146=)
8g.11758328C>ACA459314056GATA4c.1182C>A (p.Pro394=)
c.1185C>A (p.Pro395=)
n.627C>A
c.564C>A (p.Pro188=)
c.1179C>A (p.Pro393=)
c.438C>A (p.Pro146=)
8g.11758328C=CA1764074126GATA4c.1182C= (p.Pro394=)
c.1185C= (p.Pro395=)
n.627C=
c.564C= (p.Pro188=)
c.1179C= (p.Pro393=)
c.438C= (p.Pro146=)
8g.11758328C>GCA459314058GATA4c.1182C>G (p.Pro394=)
c.1185C>G (p.Pro395=)
n.627C>G
c.564C>G (p.Pro188=)
c.1179C>G (p.Pro393=)
c.438C>G (p.Pro146=)
 gnomAD v4
8g.11758328C>TCA459314059GATA4c.1182C>T (p.Pro394=)
c.1185C>T (p.Pro395=)
n.627C>T
c.564C>T (p.Pro188=)
c.1179C>T (p.Pro393=)
c.438C>T (p.Pro146=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.11758328_11758330delinsTGCA915945610GATA4c.1182_1184delinsTG (p.Ser395AlafsTer9)
c.1185_1187delinsTG (p.Ser396AlafsTer9)
n.627_629delinsTG
c.564_566delinsTG (p.Ser189AlafsTer9)
c.1179_1181delinsTG (p.Ser394AlafsTer9)
c.438_440delinsTG (p.Ser147AlafsTer9)
 ClinVar dbSNP
8g.11758329T>ACA370315596GATA4c.1183T>A (p.Ser395Thr)
c.1186T>A (p.Ser396Thr)
n.628T>A
c.565T>A (p.Ser189Thr)
c.1180T>A (p.Ser394Thr)
c.439T>A (p.Ser147Thr)
8g.11758329T>CCA370315597GATA4c.1183T>C (p.Ser395Pro)
c.1186T>C (p.Ser396Pro)
n.628T>C
c.565T>C (p.Ser189Pro)
c.1180T>C (p.Ser394Pro)
c.439T>C (p.Ser147Pro)
8g.11758329T>GCA370315598GATA4c.1183T>G (p.Ser395Ala)
c.1186T>G (p.Ser396Ala)
n.628T>G
c.565T>G (p.Ser189Ala)
c.1180T>G (p.Ser394Ala)
c.439T>G (p.Ser147Ala)
8g.11758330C>ACA370315599GATA4c.1184C>A (p.Ser395Tyr)
c.1187C>A (p.Ser396Tyr)
n.629C>A
c.566C>A (p.Ser189Tyr)
c.1181C>A (p.Ser394Tyr)
c.440C>A (p.Ser147Tyr)
 gnomAD v4
8g.11758330C>GCA370315601GATA4c.1184C>G (p.Ser395Cys)
c.1187C>G (p.Ser396Cys)
n.629C>G
c.566C>G (p.Ser189Cys)
c.1181C>G (p.Ser394Cys)
c.440C>G (p.Ser147Cys)
 gnomAD v4
8g.11758330C>TCA370315600GATA4c.1184C>T (p.Ser395Phe)
c.1187C>T (p.Ser396Phe)
n.629C>T
c.566C>T (p.Ser189Phe)
c.1181C>T (p.Ser394Phe)
c.440C>T (p.Ser147Phe)
8g.11758331C>ACA4630885GATA4c.1185C>A (p.Ser395=)
c.1188C>A (p.Ser396=)
n.630C>A
c.567C>A (p.Ser189=)
c.1182C>A (p.Ser394=)
c.441C>A (p.Ser147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11758331C=CA1764074128GATA4c.1185C= (p.Ser395=)
c.1188C= (p.Ser396=)
n.630C=
c.567C= (p.Ser189=)
c.1182C= (p.Ser394=)
c.441C= (p.Ser147=)
8g.11758331C>GCA459314062GATA4c.1185C>G (p.Ser395=)
c.1188C>G (p.Ser396=)
n.630C>G
c.567C>G (p.Ser189=)
c.1182C>G (p.Ser394=)
c.441C>G (p.Ser147=)
8g.11758331C>TCA459314063GATA4c.1185C>T (p.Ser395=)
c.1188C>T (p.Ser396=)
n.630C>T
c.567C>T (p.Ser189=)
c.1182C>T (p.Ser394=)
c.441C>T (p.Ser147=)
 ClinVar dbSNP gnomAD v4
8g.11758332A=CA1764074131GATA4c.1186A= (p.Ile396=)
c.1189A= (p.Ile397=)
n.631A=
c.568A= (p.Ile190=)
c.1183A= (p.Ile395=)
c.442A= (p.Ile148=)
8g.11758332A>CCA370315602GATA4c.1186A>C (p.Ile396Leu)
c.1189A>C (p.Ile397Leu)
n.631A>C
c.568A>C (p.Ile190Leu)
c.1183A>C (p.Ile395Leu)
c.442A>C (p.Ile148Leu)
8g.11758332A>GCA370315603GATA4c.1186A>G (p.Ile396Val)
c.1189A>G (p.Ile397Val)
n.631A>G
c.568A>G (p.Ile190Val)
c.1183A>G (p.Ile395Val)
c.442A>G (p.Ile148Val)
 dbSNP
8g.11758332A>TCA370315604GATA4c.1186A>T (p.Ile396Phe)
c.1189A>T (p.Ile397Phe)
n.631A>T
c.568A>T (p.Ile190Phe)
c.1183A>T (p.Ile395Phe)
c.442A>T (p.Ile148Phe)
8g.11758333T>ACA370315605GATA4c.1187T>A (p.Ile396Asn)
c.1190T>A (p.Ile397Asn)
n.632T>A
c.569T>A (p.Ile190Asn)
c.1184T>A (p.Ile395Asn)
c.443T>A (p.Ile148Asn)
8g.11758333T>CCA370315606GATA4c.1187T>C (p.Ile396Thr)
c.1190T>C (p.Ile397Thr)
n.632T>C
c.569T>C (p.Ile190Thr)
c.1184T>C (p.Ile395Thr)
c.443T>C (p.Ile148Thr)
8g.11758333T>GCA370315607GATA4c.1187T>G (p.Ile396Ser)
c.1190T>G (p.Ile397Ser)
n.632T>G
c.569T>G (p.Ile190Ser)
c.1184T>G (p.Ile395Ser)
c.443T>G (p.Ile148Ser)
8g.11758334C>ACA459314066GATA4c.1188C>A (p.Ile396=)
c.1191C>A (p.Ile397=)
n.633C>A
c.570C>A (p.Ile190=)
c.1185C>A (p.Ile395=)
c.444C>A (p.Ile148=)
8g.11758334C>GCA370315608GATA4c.1188C>G (p.Ile396Met)
c.1191C>G (p.Ile397Met)
n.633C>G
c.570C>G (p.Ile190Met)
c.1185C>G (p.Ile395Met)
c.444C>G (p.Ile148Met)
8g.11758334C>TCA459314067GATA4c.1188C>T (p.Ile396=)
c.1191C>T (p.Ile397=)
n.633C>T
c.570C>T (p.Ile190=)
c.1185C>T (p.Ile395=)
c.444C>T (p.Ile148=)
 ClinVar
8g.11758335C>ACA370315609GATA4c.1189C>A (p.His397Asn)
c.1192C>A (p.His398Asn)
n.634C>A
c.571C>A (p.His191Asn)
c.1186C>A (p.His396Asn)
c.445C>A (p.His149Asn)
8g.11758335C=CA1764074133GATA4c.1189C= (p.His397=)
c.1192C= (p.His398=)
n.634C=
c.571C= (p.His191=)
c.1186C= (p.His396=)
c.445C= (p.His149=)
8g.11758335C>GCA370315610GATA4c.1189C>G (p.His397Asp)
c.1192C>G (p.His398Asp)
n.634C>G
c.571C>G (p.His191Asp)
c.1186C>G (p.His396Asp)
c.445C>G (p.His149Asp)
8g.11758335C>TCA370315611GATA4c.1189C>T (p.His397Tyr)
c.1192C>T (p.His398Tyr)
n.634C>T
c.571C>T (p.His191Tyr)
c.1186C>T (p.His396Tyr)
c.445C>T (p.His149Tyr)
 dbSNP gnomAD v4
8g.11758336A=CA1764074136GATA4c.1190A= (p.His397=)
c.1193A= (p.His398=)
n.635A=
c.572A= (p.His191=)
c.1187A= (p.His396=)
c.446A= (p.His149=)
8g.11758336A>CCA370315614GATA4c.1190A>C (p.His397Pro)
c.1193A>C (p.His398Pro)
n.635A>C
c.572A>C (p.His191Pro)
c.1187A>C (p.His396Pro)
c.446A>C (p.His149Pro)
 dbSNP
8g.11758336A>GCA370315613GATA4c.1190A>G (p.His397Arg)
c.1193A>G (p.His398Arg)
n.635A>G
c.572A>G (p.His191Arg)
c.1187A>G (p.His396Arg)
c.446A>G (p.His149Arg)
8g.11758336A>TCA370315612GATA4c.1190A>T (p.His397Leu)
c.1193A>T (p.His398Leu)
n.635A>T
c.572A>T (p.His191Leu)
c.1187A>T (p.His396Leu)
c.446A>T (p.His149Leu)
8g.11758337C>ACA370315615GATA4c.1191C>A (p.His397Gln)
c.1194C>A (p.His398Gln)
n.636C>A
c.573C>A (p.His191Gln)
c.1188C>A (p.His396Gln)
c.447C>A (p.His149Gln)
8g.11758337C>GCA370315616GATA4c.1191C>G (p.His397Gln)
c.1194C>G (p.His398Gln)
n.636C>G
c.573C>G (p.His191Gln)
c.1188C>G (p.His396Gln)
c.447C>G (p.His149Gln)
8g.11758337C>TCA459314069GATA4c.1191C>T (p.His397=)
c.1194C>T (p.His398=)
n.636C>T
c.573C>T (p.His191=)
c.1188C>T (p.His396=)
c.447C>T (p.His149=)
8g.11758338C>ACA370315617GATA4c.1192C>A (p.Pro398Thr)
c.1195C>A (p.Pro399Thr)
n.637C>A
c.574C>A (p.Pro192Thr)
c.1189C>A (p.Pro397Thr)
c.448C>A (p.Pro150Thr)
8g.11758338C>GCA370315618GATA4c.1192C>G (p.Pro398Ala)
c.1195C>G (p.Pro399Ala)
n.637C>G
c.574C>G (p.Pro192Ala)
c.1189C>G (p.Pro397Ala)
c.448C>G (p.Pro150Ala)
8g.11758338C>TCA370315619GATA4c.1192C>T (p.Pro398Ser)
c.1195C>T (p.Pro399Ser)
n.637C>T
c.574C>T (p.Pro192Ser)
c.1189C>T (p.Pro397Ser)
c.448C>T (p.Pro150Ser)
 gnomAD v4
8g.11758339C>ACA370315620GATA4c.1193C>A (p.Pro398His)
c.1196C>A (p.Pro399His)
n.638C>A
c.575C>A (p.Pro192His)
c.1190C>A (p.Pro397His)
c.449C>A (p.Pro150His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758339C=CA1764074139GATA4c.1193C= (p.Pro398=)
c.1196C= (p.Pro399=)
n.638C=
c.575C= (p.Pro192=)
c.1190C= (p.Pro397=)
c.449C= (p.Pro150=)
8g.11758339C>GCA370315621GATA4c.1193C>G (p.Pro398Arg)
c.1196C>G (p.Pro399Arg)
n.638C>G
c.575C>G (p.Pro192Arg)
c.1190C>G (p.Pro397Arg)
c.449C>G (p.Pro150Arg)
8g.11758339C>TCA370315622GATA4c.1193C>T (p.Pro398Leu)
c.1196C>T (p.Pro399Leu)
n.638C>T
c.575C>T (p.Pro192Leu)
c.1190C>T (p.Pro397Leu)
c.449C>T (p.Pro150Leu)
8g.11758340T>ACA459314071GATA4c.1194T>A (p.Pro398=)
c.1197T>A (p.Pro399=)
n.639T>A
c.576T>A (p.Pro192=)
c.1191T>A (p.Pro397=)
c.450T>A (p.Pro150=)
8g.11758340T>CCA459314073GATA4c.1194T>C (p.Pro398=)
c.1197T>C (p.Pro399=)
n.639T>C
c.576T>C (p.Pro192=)
c.1191T>C (p.Pro397=)
c.450T>C (p.Pro150=)
8g.11758340T>GCA459314074GATA4c.1194T>G (p.Pro398=)
c.1197T>G (p.Pro399=)
n.639T>G
c.576T>G (p.Pro192=)
c.1191T>G (p.Pro397=)
c.450T>G (p.Pro150=)
 dbSNP gnomAD v4
8g.11758341G>ACA370315623GATA4c.1195G>A (p.Val399Ile)
c.1198G>A (p.Val400Ile)
n.640G>A
c.577G>A (p.Val193Ile)
c.1192G>A (p.Val398Ile)
c.451G>A (p.Val151Ile)
8g.11758341G>CCA172121423GATA4c.1195G>C (p.Val399Leu)
c.1198G>C (p.Val400Leu)
n.640G>C
c.577G>C (p.Val193Leu)
c.1192G>C (p.Val398Leu)
c.451G>C (p.Val151Leu)
 ClinVar dbSNP gnomAD v4
8g.11758341G=CA1764074142GATA4c.1195G= (p.Val399=)
c.1198G= (p.Val400=)
n.640G=
c.577G= (p.Val193=)
c.1192G= (p.Val398=)
c.451G= (p.Val151=)
8g.11758341G>TCA370315624GATA4c.1195G>T (p.Val399Phe)
c.1198G>T (p.Val400Phe)
n.640G>T
c.577G>T (p.Val193Phe)
c.1192G>T (p.Val398Phe)
c.451G>T (p.Val151Phe)
 ClinVar gnomAD v4
8g.11758342T>ACA370315627GATA4c.1196T>A (p.Val399Asp)
c.1199T>A (p.Val400Asp)
n.641T>A
c.578T>A (p.Val193Asp)
c.1193T>A (p.Val398Asp)
c.452T>A (p.Val151Asp)
8g.11758342T>CCA370315626GATA4c.1196T>C (p.Val399Ala)
c.1199T>C (p.Val400Ala)
n.641T>C
c.578T>C (p.Val193Ala)
c.1193T>C (p.Val398Ala)
c.452T>C (p.Val151Ala)
 ClinVar dbSNP gnomAD v4
8g.11758342T>GCA370315625GATA4c.1196T>G (p.Val399Gly)
c.1199T>G (p.Val400Gly)
n.641T>G
c.578T>G (p.Val193Gly)
c.1193T>G (p.Val398Gly)
c.452T>G (p.Val151Gly)
8g.11758343C>ACA459314078GATA4c.1197C>A (p.Val399=)
c.1200C>A (p.Val400=)
n.642C>A
c.579C>A (p.Val193=)
c.1194C>A (p.Val398=)
c.453C>A (p.Val151=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758343C=CA1764074146GATA4c.1197C= (p.Val399=)
c.1200C= (p.Val400=)
n.642C=
c.579C= (p.Val193=)
c.1194C= (p.Val398=)
c.453C= (p.Val151=)
8g.11758343C>GCA459314079GATA4c.1197C>G (p.Val399=)
c.1200C>G (p.Val400=)
n.642C>G
c.579C>G (p.Val193=)
c.1194C>G (p.Val398=)
c.453C>G (p.Val151=)
 gnomAD v4
8g.11758343C>TCA4630886GATA4c.1197C>T (p.Val399=)
c.1200C>T (p.Val400=)
n.642C>T
c.579C>T (p.Val193=)
c.1194C>T (p.Val398=)
c.453C>T (p.Val151=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.11758344C>ACA370315630GATA4c.1198C>A (p.Leu400Ile)
c.1201C>A (p.Leu401Ile)
n.643C>A
c.580C>A (p.Leu194Ile)
c.1195C>A (p.Leu399Ile)
c.454C>A (p.Leu152Ile)
8g.11758344C=CA1764074148GATA4c.1198C= (p.Leu400=)
c.1201C= (p.Leu401=)
n.643C=
c.580C= (p.Leu194=)
c.1195C= (p.Leu399=)
c.454C= (p.Leu152=)
8g.11758344C>GCA370315628GATA4c.1198C>G (p.Leu400Val)
c.1201C>G (p.Leu401Val)
n.643C>G
c.580C>G (p.Leu194Val)
c.1195C>G (p.Leu399Val)
c.454C>G (p.Leu152Val)
 ClinVar dbSNP gnomAD v4
8g.11758344C>TCA370315629GATA4c.1198C>T (p.Leu400Phe)
c.1201C>T (p.Leu401Phe)
n.643C>T
c.580C>T (p.Leu194Phe)
c.1195C>T (p.Leu399Phe)
c.454C>T (p.Leu152Phe)
8g.11758349_11758363delCA2686137362GATA4c.1203_1217del (p.Ala402_Ser406del)
c.1206_1220del (p.Ala403_Ser407del)
n.648_662del
c.585_599del (p.Ala196_Ser200del)
c.1200_1214del (p.Ala401_Ser405del)
c.459_473del (p.Ala154_Ser158del)
 gnomAD v4
8g.11758345T>ACA370315631GATA4c.1199T>A (p.Leu400His)
c.1202T>A (p.Leu401His)
n.644T>A
c.581T>A (p.Leu194His)
c.1196T>A (p.Leu399His)
c.455T>A (p.Leu152His)
8g.11758345T>CCA370315632GATA4c.1199T>C (p.Leu400Pro)
c.1202T>C (p.Leu401Pro)
n.644T>C
c.581T>C (p.Leu194Pro)
c.1196T>C (p.Leu399Pro)
c.455T>C (p.Leu152Pro)
 ClinVar
8g.11758345T>GCA370315633GATA4c.1199T>G (p.Leu400Arg)
c.1202T>G (p.Leu401Arg)
n.644T>G
c.581T>G (p.Leu194Arg)
c.1196T>G (p.Leu399Arg)
c.455T>G (p.Leu152Arg)
8g.11758346C>ACA459314082GATA4c.1200C>A (p.Leu400=)
c.1203C>A (p.Leu401=)
n.645C>A
c.582C>A (p.Leu194=)
c.1197C>A (p.Leu399=)
c.456C>A (p.Leu152=)
8g.11758346C=CA1764074152GATA4c.1200C= (p.Leu400=)
c.1203C= (p.Leu401=)
n.645C=
c.582C= (p.Leu194=)
c.1197C= (p.Leu399=)
c.456C= (p.Leu152=)
8g.11758346C>GCA459314081GATA4c.1200C>G (p.Leu400=)
c.1203C>G (p.Leu401=)
n.645C>G
c.582C>G (p.Leu194=)
c.1197C>G (p.Leu399=)
c.456C>G (p.Leu152=)
 dbSNP gnomAD v2 gnomAD v4
8g.11758346C>TCA459314080GATA4c.1200C>T (p.Leu400=)
c.1203C>T (p.Leu401=)
n.645C>T
c.582C>T (p.Leu194=)
c.1197C>T (p.Leu399=)
c.456C>T (p.Leu152=)
8g.11758347T>ACA370315634GATA4c.1201T>A (p.Ser401Thr)
c.1204T>A (p.Ser402Thr)
n.646T>A
c.583T>A (p.Ser195Thr)
c.1198T>A (p.Ser400Thr)
c.457T>A (p.Ser153Thr)
8g.11758347T>CCA370315635GATA4c.1201T>C (p.Ser401Pro)
c.1204T>C (p.Ser402Pro)
n.646T>C
c.583T>C (p.Ser195Pro)
c.1198T>C (p.Ser400Pro)
c.457T>C (p.Ser153Pro)
8g.11758347T>GCA370315636GATA4c.1201T>G (p.Ser401Ala)
c.1204T>G (p.Ser402Ala)
n.646T>G
c.583T>G (p.Ser195Ala)
c.1198T>G (p.Ser400Ala)
c.457T>G (p.Ser153Ala)
8g.11758348C>ACA370315637GATA4c.1202C>A (p.Ser401Ter)
c.1205C>A (p.Ser402Ter)
n.647C>A
c.584C>A (p.Ser195Ter)
c.1199C>A (p.Ser400Ter)
c.458C>A (p.Ser153Ter)
 gnomAD v4
8g.11758348C=CA1764074157GATA4c.1202C= (p.Ser401=)
c.1205C= (p.Ser402=)
n.647C=
c.584C= (p.Ser195=)
c.1199C= (p.Ser400=)
c.458C= (p.Ser153=)
8g.11758348C>GCA370315638GATA4c.1202C>G (p.Ser401Trp)
c.1205C>G (p.Ser402Trp)
n.647C>G
c.584C>G (p.Ser195Trp)
c.1199C>G (p.Ser400Trp)
c.458C>G (p.Ser153Trp)
8g.11758348C>TCA4630887GATA4c.1202C>T (p.Ser401Leu)
c.1205C>T (p.Ser402Leu)
n.647C>T
c.584C>T (p.Ser195Leu)
c.1199C>T (p.Ser400Leu)
c.458C>T (p.Ser153Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758349G>ACA4630888GATA4c.1203G>A (p.Ser401=)
c.1206G>A (p.Ser402=)
n.648G>A
c.585G>A (p.Ser195=)
c.1200G>A (p.Ser400=)
c.459G>A (p.Ser153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758349G>CCA459314087GATA4c.1203G>C (p.Ser401=)
c.1206G>C (p.Ser402=)
n.648G>C
c.585G>C (p.Ser195=)
c.1200G>C (p.Ser400=)
c.459G>C (p.Ser153=)
 ClinVar gnomAD v4
8g.11758349G=CA1764074166GATA4c.1203G= (p.Ser401=)
c.1206G= (p.Ser402=)
n.648G=
c.585G= (p.Ser195=)
c.1200G= (p.Ser400=)
c.459G= (p.Ser153=)
8g.11758349G>TCA459314088GATA4c.1203G>T (p.Ser401=)
c.1206G>T (p.Ser402=)
n.648G>T
c.585G>T (p.Ser195=)
c.1200G>T (p.Ser400=)
c.459G>T (p.Ser153=)
8g.11758349_11758350insCCAATCTGTGGTATTCTGTTATGCA1764074165GATA4c.1203_1204insCCAATCTGTGGTATTCTGTTATG (p.Ala402ProfsTer10)
c.1206_1207insCCAATCTGTGGTATTCTGTTATG (p.Ala403ProfsTer10)
n.648_649insCCAATCTGTGGTATTCTGTTATG
c.585_586insCCAATCTGTGGTATTCTGTTATG (p.Ala196ProfsTer10)
c.1200_1201insCCAATCTGTGGTATTCTGTTATG (p.Ala401ProfsTer10)
c.459_460insCCAATCTGTGGTATTCTGTTATG (p.Ala154ProfsTer10)
 dbSNP
8g.11758350G>ACA370315641GATA4c.1204G>A (p.Ala402Thr)
c.1207G>A (p.Ala403Thr)
n.649G>A
c.586G>A (p.Ala196Thr)
c.1201G>A (p.Ala401Thr)
c.460G>A (p.Ala154Thr)
 gnomAD v4
8g.11758350G>CCA370315639GATA4c.1204G>C (p.Ala402Pro)
c.1207G>C (p.Ala403Pro)
n.649G>C
c.586G>C (p.Ala196Pro)
c.1201G>C (p.Ala401Pro)
c.460G>C (p.Ala154Pro)
8g.11758350G>TCA370315640GATA4c.1204G>T (p.Ala402Ser)
c.1207G>T (p.Ala403Ser)
n.649G>T
c.586G>T (p.Ala196Ser)
c.1201G>T (p.Ala401Ser)
c.460G>T (p.Ala154Ser)
8g.11758350_11758351delinsGCCA1764074171GATA4c.1204_1205delinsGC (p.Ala402=)
c.1207_1208delinsGC (p.Ala403=)
n.649_650delinsGC
c.586_587delinsGC (p.Ala196=)
c.1201_1202delinsGC (p.Ala401=)
c.460_461delinsGC (p.Ala154=)
8g.11758351C>ACA370315642GATA4c.1205C>A (p.Ala402Asp)
c.1208C>A (p.Ala403Asp)
n.650C>A
c.587C>A (p.Ala196Asp)
c.1202C>A (p.Ala401Asp)
c.461C>A (p.Ala154Asp)
 ClinVar dbSNP
8g.11758351C=CA1764074175GATA4c.1205C= (p.Ala402=)
c.1208C= (p.Ala403=)
n.650C=
c.587C= (p.Ala196=)
c.1202C= (p.Ala401=)
c.461C= (p.Ala154=)
8g.11758351C>GCA370315643GATA4c.1205C>G (p.Ala402Gly)
c.1208C>G (p.Ala403Gly)
n.650C>G
c.587C>G (p.Ala196Gly)
c.1202C>G (p.Ala401Gly)
c.461C>G (p.Ala154Gly)
8g.11758351C>TCA370315644GATA4c.1205C>T (p.Ala402Val)
c.1208C>T (p.Ala403Val)
n.650C>T
c.587C>T (p.Ala196Val)
c.1202C>T (p.Ala401Val)
c.461C>T (p.Ala154Val)
8g.11758353delCA580031741GATA4c.1207del (p.Leu403Ter)
c.1210del (p.Leu404Ter)
n.652del
c.589del (p.Leu197Ter)
c.1204del (p.Leu402Ter)
c.463del (p.Leu155Ter)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched