Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.11756934G>ACA370314714GATA4c.998-1G>A (n.998-1G>A)
c.1001-1G>A (n.1001-1G>A)
n.442G>A
c.380-1G>A (n.380-1G>A)
c.995-1G>A (n.995-1G>A)
c.254-1G>A (n.254-1G>A)
8g.11756934G>CCA370314713GATA4c.998-1G>C (n.998-1G>C)
c.1001-1G>C (n.1001-1G>C)
n.442G>C
c.380-1G>C (n.380-1G>C)
c.995-1G>C (n.995-1G>C)
c.254-1G>C (n.254-1G>C)
8g.11756934G>TCA370314711GATA4c.998-1G>T (n.998-1G>T)
c.1001-1G>T (n.1001-1G>T)
n.442G>T
c.380-1G>T (n.380-1G>T)
c.995-1G>T (n.995-1G>T)
c.254-1G>T (n.254-1G>T)
8g.11756935C>ACA370314716GATA4c.998C>A (p.Ala333Asp)
c.1001C>A (p.Ala334Asp)
n.443C>A
c.380C>A (p.Ala127Asp)
c.995C>A (p.Ala332Asp)
c.254C>A (p.Ala85Asp)
8g.11756935C=CA1764072285GATA4c.998C= (p.Ala333=)
c.1001C= (p.Ala334=)
n.443C=
c.380C= (p.Ala127=)
c.995C= (p.Ala332=)
c.254C= (p.Ala85=)
8g.11756935C>GCA370314718GATA4c.998C>G (p.Ala333Gly)
c.1001C>G (p.Ala334Gly)
n.443C>G
c.380C>G (p.Ala127Gly)
c.995C>G (p.Ala332Gly)
c.254C>G (p.Ala85Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.11756935C>TCA370314719GATA4c.998C>T (p.Ala333Val)
c.1001C>T (p.Ala334Val)
n.443C>T
c.380C>T (p.Ala127Val)
c.995C>T (p.Ala332Val)
c.254C>T (p.Ala85Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11756936T>ACA459313574GATA4c.999T>A (p.Ala333=)
c.1002T>A (p.Ala334=)
n.444T>A
c.381T>A (p.Ala127=)
c.996T>A (p.Ala332=)
c.255T>A (p.Ala85=)
8g.11756936T>CCA459313575GATA4c.999T>C (p.Ala333=)
c.1002T>C (p.Ala334=)
n.444T>C
c.381T>C (p.Ala127=)
c.996T>C (p.Ala332=)
c.255T>C (p.Ala85=)
8g.11756936T>GCA459313576GATA4c.999T>G (p.Ala333=)
c.1002T>G (p.Ala334=)
n.444T>G
c.381T>G (p.Ala127=)
c.996T>G (p.Ala332=)
c.255T>G (p.Ala85=)
8g.11756937C>ACA370314722GATA4c.1000C>A (p.Pro334Thr)
c.1003C>A (p.Pro335Thr)
n.445C>A
c.382C>A (p.Pro128Thr)
c.997C>A (p.Pro333Thr)
c.256C>A (p.Pro86Thr)
 gnomAD v4
8g.11756937C=CA1764072291GATA4c.1000C= (p.Pro334=)
c.1003C= (p.Pro335=)
n.445C=
c.382C= (p.Pro128=)
c.997C= (p.Pro333=)
c.256C= (p.Pro86=)
8g.11756937C>GCA370314724GATA4c.1000C>G (p.Pro334Ala)
c.1003C>G (p.Pro335Ala)
n.445C>G
c.382C>G (p.Pro128Ala)
c.997C>G (p.Pro333Ala)
c.256C>G (p.Pro86Ala)
 dbSNP
8g.11756937C>TCA370314725GATA4c.1000C>T (p.Pro334Ser)
c.1003C>T (p.Pro335Ser)
n.445C>T
c.382C>T (p.Pro128Ser)
c.997C>T (p.Pro333Ser)
c.256C>T (p.Pro86Ser)
 ClinVar dbSNP COSMIC
8g.11756938C>ACA370314727GATA4c.1001C>A (p.Pro334His)
c.1004C>A (p.Pro335His)
n.446C>A
c.383C>A (p.Pro128His)
c.998C>A (p.Pro333His)
c.257C>A (p.Pro86His)
8g.11756938C=CA1764072300GATA4c.1001C= (p.Pro334=)
c.1004C= (p.Pro335=)
n.446C=
c.383C= (p.Pro128=)
c.998C= (p.Pro333=)
c.257C= (p.Pro86=)
8g.11756938C>GCA370314729GATA4c.1001C>G (p.Pro334Arg)
c.1004C>G (p.Pro335Arg)
n.446C>G
c.383C>G (p.Pro128Arg)
c.998C>G (p.Pro333Arg)
c.257C>G (p.Pro86Arg)
8g.11756938C>TCA370314731GATA4c.1001C>T (p.Pro334Leu)
c.1004C>T (p.Pro335Leu)
n.446C>T
c.383C>T (p.Pro128Leu)
c.998C>T (p.Pro333Leu)
c.257C>T (p.Pro86Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.11756939T>ACA459313578GATA4c.1002T>A (p.Pro334=)
c.1005T>A (p.Pro335=)
n.447T>A
c.384T>A (p.Pro128=)
c.999T>A (p.Pro333=)
c.258T>A (p.Pro86=)
8g.11756939T>CCA459313579GATA4c.1002T>C (p.Pro334=)
c.1005T>C (p.Pro335=)
n.447T>C
c.384T>C (p.Pro128=)
c.999T>C (p.Pro333=)
c.258T>C (p.Pro86=)
8g.11756939T>GCA459313581GATA4c.1002T>G (p.Pro334=)
c.1005T>G (p.Pro335=)
n.447T>G
c.384T>G (p.Pro128=)
c.999T>G (p.Pro333=)
c.258T>G (p.Pro86=)
8g.11756940T>ACA370314733GATA4c.1003T>A (p.Ser335Thr)
c.1006T>A (p.Ser336Thr)
n.448T>A
c.385T>A (p.Ser129Thr)
c.1000T>A (p.Ser334Thr)
c.259T>A (p.Ser87Thr)
8g.11756940T>CCA370314734GATA4c.1003T>C (p.Ser335Pro)
c.1006T>C (p.Ser336Pro)
n.448T>C
c.385T>C (p.Ser129Pro)
c.1000T>C (p.Ser334Pro)
c.259T>C (p.Ser87Pro)
8g.11756940T>GCA370314736GATA4c.1003T>G (p.Ser335Ala)
c.1006T>G (p.Ser336Ala)
n.448T>G
c.385T>G (p.Ser129Ala)
c.1000T>G (p.Ser334Ala)
c.259T>G (p.Ser87Ala)
8g.11756941C>ACA370314740GATA4c.1004C>A (p.Ser335Ter)
c.1007C>A (p.Ser336Ter)
n.449C>A
c.386C>A (p.Ser129Ter)
c.1001C>A (p.Ser334Ter)
c.260C>A (p.Ser87Ter)
8g.11756941C>GCA370314738GATA4c.1004C>G (p.Ser335Ter)
c.1007C>G (p.Ser336Ter)
n.449C>G
c.386C>G (p.Ser129Ter)
c.1001C>G (p.Ser334Ter)
c.260C>G (p.Ser87Ter)
8g.11756941C>TCA370314737GATA4c.1004C>T (p.Ser335Leu)
c.1007C>T (p.Ser336Leu)
n.449C>T
c.386C>T (p.Ser129Leu)
c.1001C>T (p.Ser334Leu)
c.260C>T (p.Ser87Leu)
8g.11756942A=CA1764072305GATA4c.1005A= (p.Ser335=)
c.1008A= (p.Ser336=)
n.450A=
c.387A= (p.Ser129=)
c.1002A= (p.Ser334=)
c.261A= (p.Ser87=)
8g.11756942A>CCA459313582GATA4c.1005A>C (p.Ser335=)
c.1008A>C (p.Ser336=)
n.450A>C
c.387A>C (p.Ser129=)
c.1002A>C (p.Ser334=)
c.261A>C (p.Ser87=)
8g.11756942A>GCA4630799GATA4c.1005A>G (p.Ser335=)
c.1008A>G (p.Ser336=)
n.450A>G
c.387A>G (p.Ser129=)
c.1002A>G (p.Ser334=)
c.261A>G (p.Ser87=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756942A>TCA459313584GATA4c.1005A>T (p.Ser335=)
c.1008A>T (p.Ser336=)
n.450A>T
c.387A>T (p.Ser129=)
c.1002A>T (p.Ser334=)
c.261A>T (p.Ser87=)
8g.11756943G>ACA370314743GATA4c.1006G>A (p.Gly336Ser)
c.1009G>A (p.Gly337Ser)
n.451G>A
c.388G>A (p.Gly130Ser)
c.1003G>A (p.Gly335Ser)
c.262G>A (p.Gly88Ser)
8g.11756943G>CCA370314744GATA4c.1006G>C (p.Gly336Arg)
c.1009G>C (p.Gly337Arg)
n.451G>C
c.388G>C (p.Gly130Arg)
c.1003G>C (p.Gly335Arg)
c.262G>C (p.Gly88Arg)
8g.11756943G>TCA370314745GATA4c.1006G>T (p.Gly336Cys)
c.1009G>T (p.Gly337Cys)
n.451G>T
c.388G>T (p.Gly130Cys)
c.1003G>T (p.Gly335Cys)
c.262G>T (p.Gly88Cys)
8g.11756944G>ACA370314746GATA4c.1007G>A (p.Gly336Asp)
c.1010G>A (p.Gly337Asp)
n.452G>A
c.389G>A (p.Gly130Asp)
c.1004G>A (p.Gly335Asp)
c.263G>A (p.Gly88Asp)
 dbSNP gnomAD v3 gnomAD v4
8g.11756944G>CCA370314747GATA4c.1007G>C (p.Gly336Ala)
c.1010G>C (p.Gly337Ala)
n.452G>C
c.389G>C (p.Gly130Ala)
c.1004G>C (p.Gly335Ala)
c.263G>C (p.Gly88Ala)
8g.11756944G=CA1764072312GATA4c.1007G= (p.Gly336=)
c.1010G= (p.Gly337=)
n.452G=
c.389G= (p.Gly130=)
c.1004G= (p.Gly335=)
c.263G= (p.Gly88=)
8g.11756944G>TCA370314748GATA4c.1007G>T (p.Gly336Val)
c.1010G>T (p.Gly337Val)
n.452G>T
c.389G>T (p.Gly130Val)
c.1004G>T (p.Gly335Val)
c.263G>T (p.Gly88Val)
 dbSNP gnomAD v4
8g.11756945C>ACA459313588GATA4c.1008C>A (p.Gly336=)
c.1011C>A (p.Gly337=)
n.453C>A
c.390C>A (p.Gly130=)
c.1005C>A (p.Gly335=)
c.264C>A (p.Gly88=)
8g.11756945C=CA1764072314GATA4c.1008C= (p.Gly336=)
c.1011C= (p.Gly337=)
n.453C=
c.390C= (p.Gly130=)
c.1005C= (p.Gly335=)
c.264C= (p.Gly88=)
8g.11756945C>GCA459313590GATA4c.1008C>G (p.Gly336=)
c.1011C>G (p.Gly337=)
n.453C>G
c.390C>G (p.Gly130=)
c.1005C>G (p.Gly335=)
c.264C>G (p.Gly88=)
8g.11756945C>TCA459313587GATA4c.1008C>T (p.Gly336=)
c.1011C>T (p.Gly337=)
n.453C>T
c.390C>T (p.Gly130=)
c.1005C>T (p.Gly335=)
c.264C>T (p.Gly88=)
 dbSNP gnomAD v3 gnomAD v4
8g.11756945_11756948delinsCAGTCA1764072316GATA4c.1008_1011delinsCAGT (p.Gly336=)
c.1011_1014delinsCAGT (p.Gly337=)
n.453_456delinsCAGT
c.390_393delinsCAGT (p.Gly130=)
c.1005_1008delinsCAGT (p.Gly335=)
c.264_267delinsCAGT (p.Gly88=)
8g.11756946A>CCA370314750GATA4c.1009A>C (p.Ser337Arg)
c.1012A>C (p.Ser338Arg)
n.454A>C
c.391A>C (p.Ser131Arg)
c.1006A>C (p.Ser336Arg)
c.265A>C (p.Ser89Arg)
8g.11756946A>GCA370314751GATA4c.1009A>G (p.Ser337Gly)
c.1012A>G (p.Ser338Gly)
n.454A>G
c.391A>G (p.Ser131Gly)
c.1006A>G (p.Ser336Gly)
c.265A>G (p.Ser89Gly)
 gnomAD v4
8g.11756946A>TCA370314752GATA4c.1009A>T (p.Ser337Cys)
c.1012A>T (p.Ser338Cys)
n.454A>T
c.391A>T (p.Ser131Cys)
c.1006A>T (p.Ser336Cys)
c.265A>T (p.Ser89Cys)
8g.11756946_11756948delCA459313591GATA4c.1009_1011del (p.Ser337del)
c.1012_1014del (p.Ser338del)
n.454_456del
c.391_393del (p.Ser131del)
c.1006_1008del (p.Ser336del)
c.265_267del (p.Ser89del)
 dbSNP gnomAD v2 gnomAD v4
8g.11756947G>ACA4630800GATA4c.1010G>A (p.Ser337Asn)
c.1013G>A (p.Ser338Asn)
n.455G>A
c.392G>A (p.Ser131Asn)
c.1007G>A (p.Ser336Asn)
c.266G>A (p.Ser89Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756947G>CCA370314753GATA4c.1010G>C (p.Ser337Thr)
c.1013G>C (p.Ser338Thr)
n.455G>C
c.392G>C (p.Ser131Thr)
c.1007G>C (p.Ser336Thr)
c.266G>C (p.Ser89Thr)
8g.11756947G=CA1764072323GATA4c.1010G= (p.Ser337=)
c.1013G= (p.Ser338=)
n.455G=
c.392G= (p.Ser131=)
c.1007G= (p.Ser336=)
c.266G= (p.Ser89=)
8g.11756947G>TCA370314754GATA4c.1010G>T (p.Ser337Ile)
c.1013G>T (p.Ser338Ile)
n.455G>T
c.392G>T (p.Ser131Ile)
c.1007G>T (p.Ser336Ile)
c.266G>T (p.Ser89Ile)
 gnomAD v4
8g.11756947_11756949delCA370314755GATA4c.1010_1012del (p.Ser337_Glu338delinsLys)
c.1013_1015del (p.Ser338_Glu339delinsLys)
n.455_457del
c.392_394del (p.Ser131_Glu132delinsLys)
c.1007_1009del (p.Ser336_Glu337delinsLys)
c.266_268del (p.Ser89_Glu90delinsLys)
8g.11756948delCA2573142545GATA4c.1011del (p.Ser337ArgfsTer?)
c.1014del (p.Ser338ArgfsTer?)
n.456del
c.393del (p.Ser131ArgfsTer?)
c.1008del (p.Ser336ArgfsTer?)
c.267del (p.Ser89ArgfsTer?)
 ClinVar dbSNP
8g.11756948T>ACA370314756GATA4c.1011T>A (p.Ser337Arg)
c.1014T>A (p.Ser338Arg)
n.456T>A
c.393T>A (p.Ser131Arg)
c.1008T>A (p.Ser336Arg)
c.267T>A (p.Ser89Arg)
8g.11756948T>CCA459313594GATA4c.1011T>C (p.Ser337=)
c.1014T>C (p.Ser338=)
n.456T>C
c.393T>C (p.Ser131=)
c.1008T>C (p.Ser336=)
c.267T>C (p.Ser89=)
8g.11756948T>GCA370314757GATA4c.1011T>G (p.Ser337Arg)
c.1014T>G (p.Ser338Arg)
n.456T>G
c.393T>G (p.Ser131Arg)
c.1008T>G (p.Ser336Arg)
c.267T>G (p.Ser89Arg)
8g.11756949G>ACA370314758GATA4c.1012G>A (p.Glu338Lys)
c.1015G>A (p.Glu339Lys)
n.457G>A
c.394G>A (p.Glu132Lys)
c.1009G>A (p.Glu337Lys)
c.268G>A (p.Glu90Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.11756949G>CCA370314760GATA4c.1012G>C (p.Glu338Gln)
c.1015G>C (p.Glu339Gln)
n.457G>C
c.394G>C (p.Glu132Gln)
c.1009G>C (p.Glu337Gln)
c.268G>C (p.Glu90Gln)
 gnomAD v4
8g.11756949G=CA1764072326GATA4c.1012G= (p.Glu338=)
c.1015G= (p.Glu339=)
n.457G=
c.394G= (p.Glu132=)
c.1009G= (p.Glu337=)
c.268G= (p.Glu90=)
8g.11756949G>TCA370314763GATA4c.1012G>T (p.Glu338Ter)
c.1015G>T (p.Glu339Ter)
n.457G>T
c.394G>T (p.Glu132Ter)
c.1009G>T (p.Glu337Ter)
c.268G>T (p.Glu90Ter)
8g.11756950A>CCA370314764GATA4c.1013A>C (p.Glu338Ala)
c.1016A>C (p.Glu339Ala)
n.458A>C
c.395A>C (p.Glu132Ala)
c.1010A>C (p.Glu337Ala)
c.269A>C (p.Glu90Ala)
8g.11756950A>GCA370314765GATA4c.1013A>G (p.Glu338Gly)
c.1016A>G (p.Glu339Gly)
n.458A>G
c.395A>G (p.Glu132Gly)
c.1010A>G (p.Glu337Gly)
c.269A>G (p.Glu90Gly)
8g.11756950A>TCA370314766GATA4c.1013A>T (p.Glu338Val)
c.1016A>T (p.Glu339Val)
n.458A>T
c.395A>T (p.Glu132Val)
c.1010A>T (p.Glu337Val)
c.269A>T (p.Glu90Val)
8g.11756951G>ACA4630801GATA4c.1014G>A (p.Glu338=)
c.1017G>A (p.Glu339=)
n.459G>A
c.396G>A (p.Glu132=)
c.1011G>A (p.Glu337=)
c.270G>A (p.Glu90=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756951G>CCA370314767GATA4c.1014G>C (p.Glu338Asp)
c.1017G>C (p.Glu339Asp)
n.459G>C
c.396G>C (p.Glu132Asp)
c.1011G>C (p.Glu337Asp)
c.270G>C (p.Glu90Asp)
8g.11756951G=CA1764072328GATA4c.1014G= (p.Glu338=)
c.1017G= (p.Glu339=)
n.459G=
c.396G= (p.Glu132=)
c.1011G= (p.Glu337=)
c.270G= (p.Glu90=)
8g.11756951G>TCA370314769GATA4c.1014G>T (p.Glu338Asp)
c.1017G>T (p.Glu339Asp)
n.459G>T
c.396G>T (p.Glu132Asp)
c.1011G>T (p.Glu337Asp)
c.270G>T (p.Glu90Asp)
8g.11756952A=CA1764072331GATA4c.1015A= (p.Ser339=)
c.1018A= (p.Ser340=)
n.460A=
c.397A= (p.Ser133=)
c.1012A= (p.Ser338=)
c.271A= (p.Ser91=)
8g.11756952A>CCA370314770GATA4c.1015A>C (p.Ser339Arg)
c.1018A>C (p.Ser340Arg)
n.460A>C
c.397A>C (p.Ser133Arg)
c.1012A>C (p.Ser338Arg)
c.271A>C (p.Ser91Arg)
 gnomAD v4
8g.11756952A>GCA4630802GATA4c.1015A>G (p.Ser339Gly)
c.1018A>G (p.Ser340Gly)
n.460A>G
c.397A>G (p.Ser133Gly)
c.1012A>G (p.Ser338Gly)
c.271A>G (p.Ser91Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11756952A>TCA370314772GATA4c.1015A>T (p.Ser339Cys)
c.1018A>T (p.Ser340Cys)
n.460A>T
c.397A>T (p.Ser133Cys)
c.1012A>T (p.Ser338Cys)
c.271A>T (p.Ser91Cys)
8g.11756953G>ACA370314776GATA4c.1016G>A (p.Ser339Asn)
c.1019G>A (p.Ser340Asn)
n.461G>A
c.398G>A (p.Ser133Asn)
c.1013G>A (p.Ser338Asn)
c.272G>A (p.Ser91Asn)
 gnomAD v4
8g.11756953G>CCA370314778GATA4c.1016G>C (p.Ser339Thr)
c.1019G>C (p.Ser340Thr)
n.461G>C
c.398G>C (p.Ser133Thr)
c.1013G>C (p.Ser338Thr)
c.272G>C (p.Ser91Thr)
 gnomAD v4
8g.11756953G=CA1764072336GATA4c.1016G= (p.Ser339=)
c.1019G= (p.Ser340=)
n.461G=
c.398G= (p.Ser133=)
c.1013G= (p.Ser338=)
c.272G= (p.Ser91=)
8g.11756953G>TCA370314774GATA4c.1016G>T (p.Ser339Ile)
c.1019G>T (p.Ser340Ile)
n.461G>T
c.398G>T (p.Ser133Ile)
c.1013G>T (p.Ser338Ile)
c.272G>T (p.Ser91Ile)
 dbSNP
8g.11756954C>ACA370314780GATA4c.1017C>A (p.Ser339Arg)
c.1020C>A (p.Ser340Arg)
n.462C>A
c.399C>A (p.Ser133Arg)
c.1014C>A (p.Ser338Arg)
c.273C>A (p.Ser91Arg)
 gnomAD v4
8g.11756954C=CA1764072338GATA4c.1017C= (p.Ser339=)
c.1020C= (p.Ser340=)
n.462C=
c.399C= (p.Ser133=)
c.1014C= (p.Ser338=)
c.273C= (p.Ser91=)
8g.11756954C>GCA172120329GATA4c.1017C>G (p.Ser339Arg)
c.1020C>G (p.Ser340Arg)
n.462C>G
c.399C>G (p.Ser133Arg)
c.1014C>G (p.Ser338Arg)
c.273C>G (p.Ser91Arg)
 dbSNP gnomAD v4
8g.11756954C>TCA459313600GATA4c.1017C>T (p.Ser339=)
c.1020C>T (p.Ser340=)
n.462C>T
c.399C>T (p.Ser133=)
c.1014C>T (p.Ser338=)
c.273C>T (p.Ser91=)
 dbSNP gnomAD v3 gnomAD v4
8g.11756955C>ACA370314781GATA4c.1018C>A (p.Leu340Ile)
c.1021C>A (p.Leu341Ile)
n.463C>A
c.400C>A (p.Leu134Ile)
c.1015C>A (p.Leu339Ile)
c.274C>A (p.Leu92Ile)
8g.11756955C>GCA370314782GATA4c.1018C>G (p.Leu340Val)
c.1021C>G (p.Leu341Val)
n.463C>G
c.400C>G (p.Leu134Val)
c.1015C>G (p.Leu339Val)
c.274C>G (p.Leu92Val)
 gnomAD v4
8g.11756955C>TCA370314783GATA4c.1018C>T (p.Leu340Phe)
c.1021C>T (p.Leu341Phe)
n.463C>T
c.400C>T (p.Leu134Phe)
c.1015C>T (p.Leu339Phe)
c.274C>T (p.Leu92Phe)
 COSMIC
8g.11756956T>ACA370314785GATA4c.1019T>A (p.Leu340His)
c.1022T>A (p.Leu341His)
n.464T>A
c.401T>A (p.Leu134His)
c.1016T>A (p.Leu339His)
c.275T>A (p.Leu92His)
8g.11756956T>CCA370314786GATA4c.1019T>C (p.Leu340Pro)
c.1022T>C (p.Leu341Pro)
n.464T>C
c.401T>C (p.Leu134Pro)
c.1016T>C (p.Leu339Pro)
c.275T>C (p.Leu92Pro)
8g.11756956T>GCA370314788GATA4c.1019T>G (p.Leu340Arg)
c.1022T>G (p.Leu341Arg)
n.464T>G
c.401T>G (p.Leu134Arg)
c.1016T>G (p.Leu339Arg)
c.275T>G (p.Leu92Arg)
8g.11756957T>ACA459313602GATA4c.1020T>A (p.Leu340=)
c.1023T>A (p.Leu341=)
n.465T>A
c.402T>A (p.Leu134=)
c.1017T>A (p.Leu339=)
c.276T>A (p.Leu92=)
8g.11756957T>CCA459313603GATA4c.1020T>C (p.Leu340=)
c.1023T>C (p.Leu341=)
n.465T>C
c.402T>C (p.Leu134=)
c.1017T>C (p.Leu339=)
c.276T>C (p.Leu92=)
8g.11756957T>GCA459313604GATA4c.1020T>G (p.Leu340=)
c.1023T>G (p.Leu341=)
n.465T>G
c.402T>G (p.Leu134=)
c.1017T>G (p.Leu339=)
c.276T>G (p.Leu92=)
8g.11756958C>ACA370314789GATA4c.1021C>A (p.Pro341Thr)
c.1024C>A (p.Pro342Thr)
n.466C>A
c.403C>A (p.Pro135Thr)
c.1018C>A (p.Pro340Thr)
c.277C>A (p.Pro93Thr)
8g.11756958C=CA1764072341GATA4c.1021C= (p.Pro341=)
c.1024C= (p.Pro342=)
n.466C=
c.403C= (p.Pro135=)
c.1018C= (p.Pro340=)
c.277C= (p.Pro93=)
8g.11756958C>GCA370314794GATA4c.1021C>G (p.Pro341Ala)
c.1024C>G (p.Pro342Ala)
n.466C>G
c.403C>G (p.Pro135Ala)
c.1018C>G (p.Pro340Ala)
c.277C>G (p.Pro93Ala)
8g.11756958C>TCA370314792GATA4c.1021C>T (p.Pro341Ser)
c.1024C>T (p.Pro342Ser)
n.466C>T
c.403C>T (p.Pro135Ser)
c.1018C>T (p.Pro340Ser)
c.277C>T (p.Pro93Ser)
 dbSNP COSMIC
8g.11756959C>ACA370314796GATA4c.1022C>A (p.Pro341His)
c.1025C>A (p.Pro342His)
n.467C>A
c.404C>A (p.Pro135His)
c.1019C>A (p.Pro340His)
c.278C>A (p.Pro93His)
8g.11756959C=CA1764072343GATA4c.1022C= (p.Pro341=)
c.1025C= (p.Pro342=)
n.467C=
c.404C= (p.Pro135=)
c.1019C= (p.Pro340=)
c.278C= (p.Pro93=)
8g.11756959C>GCA370314798GATA4c.1022C>G (p.Pro341Arg)
c.1025C>G (p.Pro342Arg)
n.467C>G
c.404C>G (p.Pro135Arg)
c.1019C>G (p.Pro340Arg)
c.278C>G (p.Pro93Arg)
8g.11756959C>TCA370314800GATA4c.1022C>T (p.Pro341Leu)
c.1025C>T (p.Pro342Leu)
n.467C>T
c.404C>T (p.Pro135Leu)
c.1019C>T (p.Pro340Leu)
c.278C>T (p.Pro93Leu)
 dbSNP gnomAD v4
8g.11756960T>ACA459313606GATA4c.1023T>A (p.Pro341=)
c.1026T>A (p.Pro342=)
n.468T>A
c.405T>A (p.Pro135=)
c.1020T>A (p.Pro340=)
c.279T>A (p.Pro93=)
8g.11756960T>CCA4630803GATA4c.1023T>C (p.Pro341=)
c.1026T>C (p.Pro342=)
n.468T>C
c.405T>C (p.Pro135=)
c.1020T>C (p.Pro340=)
c.279T>C (p.Pro93=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756960T>GCA459313607GATA4c.1023T>G (p.Pro341=)
c.1026T>G (p.Pro342=)
n.468T>G
c.405T>G (p.Pro135=)
c.1020T>G (p.Pro340=)
c.279T>G (p.Pro93=)
8g.11756960T=CA1764072347GATA4c.1023T= (p.Pro341=)
c.1026T= (p.Pro342=)
n.468T=
c.405T= (p.Pro135=)
c.1020T= (p.Pro340=)
c.279T= (p.Pro93=)
8g.11756961C>ACA370314804GATA4c.1024C>A (p.Pro342Thr)
c.1027C>A (p.Pro343Thr)
n.469C>A
c.406C>A (p.Pro136Thr)
c.1021C>A (p.Pro341Thr)
c.280C>A (p.Pro94Thr)
8g.11756961C=CA1764072354GATA4c.1024C= (p.Pro342=)
c.1027C= (p.Pro343=)
n.469C=
c.406C= (p.Pro136=)
c.1021C= (p.Pro341=)
c.280C= (p.Pro94=)
8g.11756961C>GCA370314803GATA4c.1024C>G (p.Pro342Ala)
c.1027C>G (p.Pro343Ala)
n.469C>G
c.406C>G (p.Pro136Ala)
c.1021C>G (p.Pro341Ala)
c.280C>G (p.Pro94Ala)
8g.11756961C>TCA172120334GATA4c.1024C>T (p.Pro342Ser)
c.1027C>T (p.Pro343Ser)
n.469C>T
c.406C>T (p.Pro136Ser)
c.1021C>T (p.Pro341Ser)
c.280C>T (p.Pro94Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11756962C>ACA370314806GATA4c.1025C>A (p.Pro342His)
c.1028C>A (p.Pro343His)
n.470C>A
c.407C>A (p.Pro136His)
c.1022C>A (p.Pro341His)
c.281C>A (p.Pro94His)
8g.11756962C>GCA370314808GATA4c.1025C>G (p.Pro342Arg)
c.1028C>G (p.Pro343Arg)
n.470C>G
c.407C>G (p.Pro136Arg)
c.1022C>G (p.Pro341Arg)
c.281C>G (p.Pro94Arg)
8g.11756962C>TCA370314809GATA4c.1025C>T (p.Pro342Leu)
c.1028C>T (p.Pro343Leu)
n.470C>T
c.407C>T (p.Pro136Leu)
c.1022C>T (p.Pro341Leu)
c.281C>T (p.Pro94Leu)
 gnomAD v4
8g.11756963C>ACA459313612GATA4c.1026C>A (p.Pro342=)
c.1029C>A (p.Pro343=)
n.471C>A
c.408C>A (p.Pro136=)
c.1023C>A (p.Pro341=)
c.282C>A (p.Pro94=)
8g.11756963C=CA1764072356GATA4c.1026C= (p.Pro342=)
c.1029C= (p.Pro343=)
n.471C=
c.408C= (p.Pro136=)
c.1023C= (p.Pro341=)
c.282C= (p.Pro94=)
8g.11756963C>GCA459313613GATA4c.1026C>G (p.Pro342=)
c.1029C>G (p.Pro343=)
n.471C>G
c.408C>G (p.Pro136=)
c.1023C>G (p.Pro341=)
c.282C>G (p.Pro94=)
8g.11756963C>TCA4630804GATA4c.1026C>T (p.Pro342=)
c.1029C>T (p.Pro343=)
n.471C>T
c.408C>T (p.Pro136=)
c.1023C>T (p.Pro341=)
c.282C>T (p.Pro94=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756964G>ACA4630805GATA4c.1027G>A (p.Ala343Thr)
c.1030G>A (p.Ala344Thr)
n.472G>A
c.409G>A (p.Ala137Thr)
c.1024G>A (p.Ala342Thr)
c.283G>A (p.Ala95Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756964G>CCA370314812GATA4c.1027G>C (p.Ala343Pro)
c.1030G>C (p.Ala344Pro)
n.472G>C
c.409G>C (p.Ala137Pro)
c.1024G>C (p.Ala342Pro)
c.283G>C (p.Ala95Pro)
8g.11756964G=CA1764072358GATA4c.1027G= (p.Ala343=)
c.1030G= (p.Ala344=)
n.472G=
c.409G= (p.Ala137=)
c.1024G= (p.Ala342=)
c.283G= (p.Ala95=)
8g.11756964G>TCA370314814GATA4c.1027G>T (p.Ala343Ser)
c.1030G>T (p.Ala344Ser)
n.472G>T
c.409G>T (p.Ala137Ser)
c.1024G>T (p.Ala342Ser)
c.283G>T (p.Ala95Ser)
 gnomAD v4
8g.11756965C>ACA370314816GATA4c.1028C>A (p.Ala343Asp)
c.1031C>A (p.Ala344Asp)
n.473C>A
c.410C>A (p.Ala137Asp)
c.1025C>A (p.Ala342Asp)
c.284C>A (p.Ala95Asp)
8g.11756965C=CA1764072361GATA4c.1028C= (p.Ala343=)
c.1031C= (p.Ala344=)
n.473C=
c.410C= (p.Ala137=)
c.1025C= (p.Ala342=)
c.284C= (p.Ala95=)
8g.11756965C>GCA370314817GATA4c.1028C>G (p.Ala343Gly)
c.1031C>G (p.Ala344Gly)
n.473C>G
c.410C>G (p.Ala137Gly)
c.1025C>G (p.Ala342Gly)
c.284C>G (p.Ala95Gly)
8g.11756965C>TCA370314818GATA4c.1028C>T (p.Ala343Val)
c.1031C>T (p.Ala344Val)
n.473C>T
c.410C>T (p.Ala137Val)
c.1025C>T (p.Ala342Val)
c.284C>T (p.Ala95Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11756966C>ACA459313619GATA4c.1029C>A (p.Ala343=)
c.1032C>A (p.Ala344=)
n.474C>A
c.411C>A (p.Ala137=)
c.1026C>A (p.Ala342=)
c.285C>A (p.Ala95=)
8g.11756966C>GCA459313617GATA4c.1029C>G (p.Ala343=)
c.1032C>G (p.Ala344=)
n.474C>G
c.411C>G (p.Ala137=)
c.1026C>G (p.Ala342=)
c.285C>G (p.Ala95=)
8g.11756966C>TCA459313618GATA4c.1029C>T (p.Ala343=)
c.1032C>T (p.Ala344=)
n.474C>T
c.411C>T (p.Ala137=)
c.1026C>T (p.Ala342=)
c.285C>T (p.Ala95=)
 gnomAD v4
8g.11756967A>CCA370314819GATA4c.1030A>C (p.Ser344Arg)
c.1033A>C (p.Ser345Arg)
n.475A>C
c.412A>C (p.Ser138Arg)
c.1027A>C (p.Ser343Arg)
c.286A>C (p.Ser96Arg)
8g.11756967A>GCA370314821GATA4c.1030A>G (p.Ser344Gly)
c.1033A>G (p.Ser345Gly)
n.475A>G
c.412A>G (p.Ser138Gly)
c.1027A>G (p.Ser343Gly)
c.286A>G (p.Ser96Gly)
 gnomAD v4
8g.11756967A>TCA370314823GATA4c.1030A>T (p.Ser344Cys)
c.1033A>T (p.Ser345Cys)
n.475A>T
c.412A>T (p.Ser138Cys)
c.1027A>T (p.Ser343Cys)
c.286A>T (p.Ser96Cys)
8g.11756968G>ACA370314826GATA4c.1031G>A (p.Ser344Asn)
c.1034G>A (p.Ser345Asn)
n.476G>A
c.413G>A (p.Ser138Asn)
c.1028G>A (p.Ser343Asn)
c.287G>A (p.Ser96Asn)
8g.11756968G>CCA370314829GATA4c.1031G>C (p.Ser344Thr)
c.1034G>C (p.Ser345Thr)
n.476G>C
c.413G>C (p.Ser138Thr)
c.1028G>C (p.Ser343Thr)
c.287G>C (p.Ser96Thr)
 gnomAD v4
8g.11756968G>TCA370314827GATA4c.1031G>T (p.Ser344Ile)
c.1034G>T (p.Ser345Ile)
n.476G>T
c.413G>T (p.Ser138Ile)
c.1028G>T (p.Ser343Ile)
c.287G>T (p.Ser96Ile)
8g.11756969C>ACA370314832GATA4c.1032C>A (p.Ser344Arg)
c.1035C>A (p.Ser345Arg)
n.477C>A
c.414C>A (p.Ser138Arg)
c.1029C>A (p.Ser343Arg)
c.288C>A (p.Ser96Arg)
8g.11756969C=CA1764072367GATA4c.1032C= (p.Ser344=)
c.1035C= (p.Ser345=)
n.477C=
c.414C= (p.Ser138=)
c.1029C= (p.Ser343=)
c.288C= (p.Ser96=)
8g.11756969C>GCA370314835GATA4c.1032C>G (p.Ser344Arg)
c.1035C>G (p.Ser345Arg)
n.477C>G
c.414C>G (p.Ser138Arg)
c.1029C>G (p.Ser343Arg)
c.288C>G (p.Ser96Arg)
8g.11756969C>TCA4630806GATA4c.1032C>T (p.Ser344=)
c.1035C>T (p.Ser345=)
n.477C>T
c.414C>T (p.Ser138=)
c.1029C>T (p.Ser343=)
c.288C>T (p.Ser96=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11756970G>ACA4630807GATA4c.1033G>A (p.Gly345Ser)
c.1036G>A (p.Gly346Ser)
n.478G>A
c.415G>A (p.Gly139Ser)
c.1030G>A (p.Gly344Ser)
c.289G>A (p.Gly97Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756970G>CCA370314838GATA4c.1033G>C (p.Gly345Arg)
c.1036G>C (p.Gly346Arg)
n.478G>C
c.415G>C (p.Gly139Arg)
c.1030G>C (p.Gly344Arg)
c.289G>C (p.Gly97Arg)
8g.11756970G=CA1764072373GATA4c.1033G= (p.Gly345=)
c.1036G= (p.Gly346=)
n.478G=
c.415G= (p.Gly139=)
c.1030G= (p.Gly344=)
c.289G= (p.Gly97=)
8g.11756970G>TCA370314839GATA4c.1033G>T (p.Gly345Cys)
c.1036G>T (p.Gly346Cys)
n.478G>T
c.415G>T (p.Gly139Cys)
c.1030G>T (p.Gly344Cys)
c.289G>T (p.Gly97Cys)
 dbSNP gnomAD v3 gnomAD v4
8g.11756971G>ACA370314842GATA4c.1034G>A (p.Gly345Asp)
c.1037G>A (p.Gly346Asp)
n.479G>A
c.416G>A (p.Gly139Asp)
c.1031G>A (p.Gly344Asp)
c.290G>A (p.Gly97Asp)
8g.11756971G>CCA370314844GATA4c.1034G>C (p.Gly345Ala)
c.1037G>C (p.Gly346Ala)
n.479G>C
c.416G>C (p.Gly139Ala)
c.1031G>C (p.Gly344Ala)
c.290G>C (p.Gly97Ala)
8g.11756971G>TCA370314846GATA4c.1034G>T (p.Gly345Val)
c.1037G>T (p.Gly346Val)
n.479G>T
c.416G>T (p.Gly139Val)
c.1031G>T (p.Gly344Val)
c.290G>T (p.Gly97Val)
 gnomAD v4
8g.11756972T>ACA459313625GATA4c.1035T>A (p.Gly345=)
c.1038T>A (p.Gly346=)
n.480T>A
c.417T>A (p.Gly139=)
c.1032T>A (p.Gly344=)
c.291T>A (p.Gly97=)
8g.11756972T>CCA459313624GATA4c.1035T>C (p.Gly345=)
c.1038T>C (p.Gly346=)
n.480T>C
c.417T>C (p.Gly139=)
c.1032T>C (p.Gly344=)
c.291T>C (p.Gly97=)
8g.11756972T>GCA459313626GATA4c.1035T>G (p.Gly345=)
c.1038T>G (p.Gly346=)
n.480T>G
c.417T>G (p.Gly139=)
c.1032T>G (p.Gly344=)
c.291T>G (p.Gly97=)
 gnomAD v4
8g.11756973G>ACA4630808GATA4c.1036G>A (p.Ala346Thr)
c.1039G>A (p.Ala347Thr)
n.481G>A
c.418G>A (p.Ala140Thr)
c.1033G>A (p.Ala345Thr)
c.292G>A (p.Ala98Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756973G>CCA370314851GATA4c.1036G>C (p.Ala346Pro)
c.1039G>C (p.Ala347Pro)
n.481G>C
c.418G>C (p.Ala140Pro)
c.1033G>C (p.Ala345Pro)
c.292G>C (p.Ala98Pro)
 dbSNP gnomAD v4
8g.11756973G=CA1764072379GATA4c.1036G= (p.Ala346=)
c.1039G= (p.Ala347=)
n.481G=
c.418G= (p.Ala140=)
c.1033G= (p.Ala345=)
c.292G= (p.Ala98=)
8g.11756973G>TCA370314853GATA4c.1036G>T (p.Ala346Ser)
c.1039G>T (p.Ala347Ser)
n.481G>T
c.418G>T (p.Ala140Ser)
c.1033G>T (p.Ala345Ser)
c.292G>T (p.Ala98Ser)
8g.11756974C>ACA370314858GATA4c.1037C>A (p.Ala346Asp)
c.1040C>A (p.Ala347Asp)
n.482C>A
c.419C>A (p.Ala140Asp)
c.1034C>A (p.Ala345Asp)
c.293C>A (p.Ala98Asp)
8g.11756974C=CA1764072385GATA4c.1037C= (p.Ala346=)
c.1040C= (p.Ala347=)
n.482C=
c.419C= (p.Ala140=)
c.1034C= (p.Ala345=)
c.293C= (p.Ala98=)
8g.11756974C>GCA370314855GATA4c.1037C>G (p.Ala346Gly)
c.1040C>G (p.Ala347Gly)
n.482C>G
c.419C>G (p.Ala140Gly)
c.1034C>G (p.Ala345Gly)
c.293C>G (p.Ala98Gly)
8g.11756974C>TCA212670GATA4c.1037C>T (p.Ala346Val)
c.1040C>T (p.Ala347Val)
n.482C>T
c.419C>T (p.Ala140Val)
c.1034C>T (p.Ala345Val)
c.293C>T (p.Ala98Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756975T>ACA459313628GATA4c.1038T>A (p.Ala346=)
c.1041T>A (p.Ala347=)
n.483T>A
c.420T>A (p.Ala140=)
c.1035T>A (p.Ala345=)
c.294T>A (p.Ala98=)
8g.11756975T>CCA459313629GATA4c.1038T>C (p.Ala346=)
c.1041T>C (p.Ala347=)
n.483T>C
c.420T>C (p.Ala140=)
c.1035T>C (p.Ala345=)
c.294T>C (p.Ala98=)
 dbSNP gnomAD v3 gnomAD v4
8g.11756975T>GCA459313630GATA4c.1038T>G (p.Ala346=)
c.1041T>G (p.Ala347=)
n.483T>G
c.420T>G (p.Ala140=)
c.1035T>G (p.Ala345=)
c.294T>G (p.Ala98=)
8g.11756975T=CA1764072390GATA4c.1038T= (p.Ala346=)
c.1041T= (p.Ala347=)
n.483T=
c.420T= (p.Ala140=)
c.1035T= (p.Ala345=)
c.294T= (p.Ala98=)
8g.11756975_11756984delinsTTCCAGCAACCA1764072388GATA4c.1038_1047delinsTTCCAGCAAC (p.Ala346=)
c.1041_1050delinsTTCCAGCAAC (p.Ala347=)
n.483_492delinsTTCCAGCAAC
c.420_429delinsTTCCAGCAAC (p.Ala140=)
c.1035_1044delinsTTCCAGCAAC (p.Ala345=)
c.294_303delinsTTCCAGCAAC (p.Ala98=)
8g.11756976T>ACA370314859GATA4c.1039T>A (p.Ser347Thr)
c.1042T>A (p.Ser348Thr)
n.484T>A
c.421T>A (p.Ser141Thr)
c.1036T>A (p.Ser346Thr)
c.295T>A (p.Ser99Thr)
8g.11756976T>CCA370314861GATA4c.1039T>C (p.Ser347Pro)
c.1042T>C (p.Ser348Pro)
n.484T>C
c.421T>C (p.Ser141Pro)
c.1036T>C (p.Ser346Pro)
c.295T>C (p.Ser99Pro)
8g.11756976T>GCA370314866GATA4c.1039T>G (p.Ser347Ala)
c.1042T>G (p.Ser348Ala)
n.484T>G
c.421T>G (p.Ser141Ala)
c.1036T>G (p.Ser346Ala)
c.295T>G (p.Ser99Ala)
8g.11756985_11756993delCA579789161GATA4c.1048_1056del (p.Ser350_Asn352del)
c.1051_1059del (p.Ser351_Asn353del)
n.493_501del
c.430_438del (p.Ser144_Asn146del)
c.1045_1053del (p.Ser349_Asn351del)
c.304_312del (p.Ser102_Asn104del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11756977C>ACA370314869GATA4c.1040C>A (p.Ser347Tyr)
c.1043C>A (p.Ser348Tyr)
n.485C>A
c.422C>A (p.Ser141Tyr)
c.1037C>A (p.Ser346Tyr)
c.296C>A (p.Ser99Tyr)
8g.11756977C>GCA370314871GATA4c.1040C>G (p.Ser347Cys)
c.1043C>G (p.Ser348Cys)
n.485C>G
c.422C>G (p.Ser141Cys)
c.1037C>G (p.Ser346Cys)
c.296C>G (p.Ser99Cys)
8g.11756977C>TCA370314872GATA4c.1040C>T (p.Ser347Phe)
c.1043C>T (p.Ser348Phe)
n.485C>T
c.422C>T (p.Ser141Phe)
c.1037C>T (p.Ser346Phe)
c.296C>T (p.Ser99Phe)
8g.11756978C>ACA459313632GATA4c.1041C>A (p.Ser347=)
c.1044C>A (p.Ser348=)
n.486C>A
c.423C>A (p.Ser141=)
c.1038C>A (p.Ser346=)
c.297C>A (p.Ser99=)
8g.11756978C>GCA459313633GATA4c.1041C>G (p.Ser347=)
c.1044C>G (p.Ser348=)
n.486C>G
c.423C>G (p.Ser141=)
c.1038C>G (p.Ser346=)
c.297C>G (p.Ser99=)
8g.11756978C>TCA459313634GATA4c.1041C>T (p.Ser347=)
c.1044C>T (p.Ser348=)
n.486C>T
c.423C>T (p.Ser141=)
c.1038C>T (p.Ser346=)
c.297C>T (p.Ser99=)
8g.11756979A>CCA370314874GATA4c.1042A>C (p.Ser348Arg)
c.1045A>C (p.Ser349Arg)
n.487A>C
c.424A>C (p.Ser142Arg)
c.1039A>C (p.Ser347Arg)
c.298A>C (p.Ser100Arg)
8g.11756979A>GCA370314876GATA4c.1042A>G (p.Ser348Gly)
c.1045A>G (p.Ser349Gly)
n.487A>G
c.424A>G (p.Ser142Gly)
c.1039A>G (p.Ser347Gly)
c.298A>G (p.Ser100Gly)
8g.11756979A>TCA370314877GATA4c.1042A>T (p.Ser348Cys)
c.1045A>T (p.Ser349Cys)
n.487A>T
c.424A>T (p.Ser142Cys)
c.1039A>T (p.Ser347Cys)
c.298A>T (p.Ser100Cys)
8g.11756980G>ACA370314879GATA4c.1043G>A (p.Ser348Asn)
c.1046G>A (p.Ser349Asn)
n.488G>A
c.425G>A (p.Ser142Asn)
c.1040G>A (p.Ser347Asn)
c.299G>A (p.Ser100Asn)
 gnomAD v4
8g.11756980G>CCA370314881GATA4c.1043G>C (p.Ser348Thr)
c.1046G>C (p.Ser349Thr)
n.488G>C
c.425G>C (p.Ser142Thr)
c.1040G>C (p.Ser347Thr)
c.299G>C (p.Ser100Thr)
8g.11756980G=CA1764072395GATA4c.1043G= (p.Ser348=)
c.1046G= (p.Ser349=)
n.488G=
c.425G= (p.Ser142=)
c.1040G= (p.Ser347=)
c.299G= (p.Ser100=)
8g.11756980G>TCA370314883GATA4c.1043G>T (p.Ser348Ile)
c.1046G>T (p.Ser349Ile)
n.488G>T
c.425G>T (p.Ser142Ile)
c.1040G>T (p.Ser347Ile)
c.299G>T (p.Ser100Ile)
 dbSNP
8g.11756981C>ACA370314884GATA4c.1044C>A (p.Ser348Arg)
c.1047C>A (p.Ser349Arg)
n.489C>A
c.426C>A (p.Ser142Arg)
c.1041C>A (p.Ser347Arg)
c.300C>A (p.Ser100Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.11756981C=CA1764072397GATA4c.1044C= (p.Ser348=)
c.1047C= (p.Ser349=)
n.489C=
c.426C= (p.Ser142=)
c.1041C= (p.Ser347=)
c.300C= (p.Ser100=)
8g.11756981C>GCA370314885GATA4c.1044C>G (p.Ser348Arg)
c.1047C>G (p.Ser349Arg)
n.489C>G
c.426C>G (p.Ser142Arg)
c.1041C>G (p.Ser347Arg)
c.300C>G (p.Ser100Arg)
8g.11756981C>TCA459313637GATA4c.1044C>T (p.Ser348=)
c.1047C>T (p.Ser349=)
n.489C>T
c.426C>T (p.Ser142=)
c.1041C>T (p.Ser347=)
c.300C>T (p.Ser100=)
 gnomAD v4
8g.11756982A>CCA370314887GATA4c.1045A>C (p.Asn349His)
c.1048A>C (p.Asn350His)
n.490A>C
c.427A>C (p.Asn143His)
c.1042A>C (p.Asn348His)
c.301A>C (p.Asn101His)
8g.11756982A>GCA370314891GATA4c.1045A>G (p.Asn349Asp)
c.1048A>G (p.Asn350Asp)
n.490A>G
c.427A>G (p.Asn143Asp)
c.1042A>G (p.Asn348Asp)
c.301A>G (p.Asn101Asp)
 gnomAD v4
8g.11756982A>TCA370314889GATA4c.1045A>T (p.Asn349Tyr)
c.1048A>T (p.Asn350Tyr)
n.490A>T
c.427A>T (p.Asn143Tyr)
c.1042A>T (p.Asn348Tyr)
c.301A>T (p.Asn101Tyr)
8g.11756983A>CCA370314893GATA4c.1046A>C (p.Asn349Thr)
c.1049A>C (p.Asn350Thr)
n.491A>C
c.428A>C (p.Asn143Thr)
c.1043A>C (p.Asn348Thr)
c.302A>C (p.Asn101Thr)
8g.11756983A>GCA370314895GATA4c.1046A>G (p.Asn349Ser)
c.1049A>G (p.Asn350Ser)
n.491A>G
c.428A>G (p.Asn143Ser)
c.1043A>G (p.Asn348Ser)
c.302A>G (p.Asn101Ser)
8g.11756983A>TCA370314897GATA4c.1046A>T (p.Asn349Ile)
c.1049A>T (p.Asn350Ile)
n.491A>T
c.428A>T (p.Asn143Ile)
c.1043A>T (p.Asn348Ile)
c.302A>T (p.Asn101Ile)
8g.11756984C>ACA370314902GATA4c.1047C>A (p.Asn349Lys)
c.1050C>A (p.Asn350Lys)
n.492C>A
c.429C>A (p.Asn143Lys)
c.1044C>A (p.Asn348Lys)
c.303C>A (p.Asn101Lys)
8g.11756984C>GCA370314904GATA4c.1047C>G (p.Asn349Lys)
c.1050C>G (p.Asn350Lys)
n.492C>G
c.429C>G (p.Asn143Lys)
c.1044C>G (p.Asn348Lys)
c.303C>G (p.Asn101Lys)
8g.11756984C>TCA459313641GATA4c.1047C>T (p.Asn349=)
c.1050C>T (p.Asn350=)
n.492C>T
c.429C>T (p.Asn143=)
c.1044C>T (p.Asn348=)
c.303C>T (p.Asn101=)
 gnomAD v4
8g.11756985T>ACA370314906GATA4c.1048T>A (p.Ser350Thr)
c.1051T>A (p.Ser351Thr)
n.493T>A
c.430T>A (p.Ser144Thr)
c.1045T>A (p.Ser349Thr)
c.304T>A (p.Ser102Thr)
8g.11756985T>CCA370314908GATA4c.1048T>C (p.Ser350Pro)
c.1051T>C (p.Ser351Pro)
n.493T>C
c.430T>C (p.Ser144Pro)
c.1045T>C (p.Ser349Pro)
c.304T>C (p.Ser102Pro)
8g.11756985T>GCA370314910GATA4c.1048T>G (p.Ser350Ala)
c.1051T>G (p.Ser351Ala)
n.493T>G
c.430T>G (p.Ser144Ala)
c.1045T>G (p.Ser349Ala)
c.304T>G (p.Ser102Ala)
8g.11756986C>ACA370314911GATA4c.1049C>A (p.Ser350Tyr)
c.1052C>A (p.Ser351Tyr)
n.494C>A
c.431C>A (p.Ser144Tyr)
c.1046C>A (p.Ser349Tyr)
c.305C>A (p.Ser102Tyr)
8g.11756986C>GCA370314912GATA4c.1049C>G (p.Ser350Cys)
c.1052C>G (p.Ser351Cys)
n.494C>G
c.431C>G (p.Ser144Cys)
c.1046C>G (p.Ser349Cys)
c.305C>G (p.Ser102Cys)
8g.11756986C>TCA370314913GATA4c.1049C>T (p.Ser350Phe)
c.1052C>T (p.Ser351Phe)
n.494C>T
c.431C>T (p.Ser144Phe)
c.1046C>T (p.Ser349Phe)
c.305C>T (p.Ser102Phe)
8g.11756987C>ACA459313642GATA4c.1050C>A (p.Ser350=)
c.1053C>A (p.Ser351=)
n.495C>A
c.432C>A (p.Ser144=)
c.1047C>A (p.Ser349=)
c.306C>A (p.Ser102=)
8g.11756987C=CA1764072399GATA4c.1050C= (p.Ser350=)
c.1053C= (p.Ser351=)
n.495C=
c.432C= (p.Ser144=)
c.1047C= (p.Ser349=)
c.306C= (p.Ser102=)
8g.11756987C>GCA459313643GATA4c.1050C>G (p.Ser350=)
c.1053C>G (p.Ser351=)
n.495C>G
c.432C>G (p.Ser144=)
c.1047C>G (p.Ser349=)
c.306C>G (p.Ser102=)
8g.11756987C>TCA4630809GATA4c.1050C>T (p.Ser350=)
c.1053C>T (p.Ser351=)
n.495C>T
c.432C>T (p.Ser144=)
c.1047C>T (p.Ser349=)
c.306C>T (p.Ser102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756988A>CCA370315320GATA4c.1051A>C (p.Ser351Arg)
c.1054A>C (p.Ser352Arg)
n.496A>C
c.433A>C (p.Ser145Arg)
c.1048A>C (p.Ser350Arg)
c.307A>C (p.Ser103Arg)
8g.11756988A>GCA370315318GATA4c.1051A>G (p.Ser351Gly)
c.1054A>G (p.Ser352Gly)
n.496A>G
c.433A>G (p.Ser145Gly)
c.1048A>G (p.Ser350Gly)
c.307A>G (p.Ser103Gly)
 ClinVar
8g.11756988A>TCA370315319GATA4c.1051A>T (p.Ser351Cys)
c.1054A>T (p.Ser352Cys)
n.496A>T
c.433A>T (p.Ser145Cys)
c.1048A>T (p.Ser350Cys)
c.307A>T (p.Ser103Cys)
8g.11756989G>ACA370315321GATA4c.1052G>A (p.Ser351Asn)
c.1055G>A (p.Ser352Asn)
n.497G>A
c.434G>A (p.Ser145Asn)
c.1049G>A (p.Ser350Asn)
c.308G>A (p.Ser103Asn)
 dbSNP
8g.11756989G>CCA370315322GATA4c.1052G>C (p.Ser351Thr)
c.1055G>C (p.Ser352Thr)
n.497G>C
c.434G>C (p.Ser145Thr)
c.1049G>C (p.Ser350Thr)
c.308G>C (p.Ser103Thr)
8g.11756989G=CA1764072402GATA4c.1052G= (p.Ser351=)
c.1055G= (p.Ser352=)
n.497G=
c.434G= (p.Ser145=)
c.1049G= (p.Ser350=)
c.308G= (p.Ser103=)
8g.11756989G>TCA370315323GATA4c.1052G>T (p.Ser351Ile)
c.1055G>T (p.Ser352Ile)
n.497G>T
c.434G>T (p.Ser145Ile)
c.1049G>T (p.Ser350Ile)
c.308G>T (p.Ser103Ile)
8g.11756990C>ACA370315324GATA4c.1053C>A (p.Ser351Arg)
c.1056C>A (p.Ser352Arg)
n.498C>A
c.435C>A (p.Ser145Arg)
c.1050C>A (p.Ser350Arg)
c.309C>A (p.Ser103Arg)
 COSMIC
8g.11756990C=CA1764072407GATA4c.1053C= (p.Ser351=)
c.1056C= (p.Ser352=)
n.498C=
c.435C= (p.Ser145=)
c.1050C= (p.Ser350=)
c.309C= (p.Ser103=)
8g.11756990C>GCA370315325GATA4c.1053C>G (p.Ser351Arg)
c.1056C>G (p.Ser352Arg)
n.498C>G
c.435C>G (p.Ser145Arg)
c.1050C>G (p.Ser350Arg)
c.309C>G (p.Ser103Arg)
8g.11756990C>TCA459313685GATA4c.1053C>T (p.Ser351=)
c.1056C>T (p.Ser352=)
n.498C>T
c.435C>T (p.Ser145=)
c.1050C>T (p.Ser350=)
c.309C>T (p.Ser103=)
 ClinVar dbSNP gnomAD v4
8g.11756991A>CCA370315326GATA4c.1054A>C (p.Asn352His)
c.1057A>C (p.Asn353His)
n.499A>C
c.436A>C (p.Asn146His)
c.1051A>C (p.Asn351His)
c.310A>C (p.Asn104His)
8g.11756991A>GCA370315327GATA4c.1054A>G (p.Asn352Asp)
c.1057A>G (p.Asn353Asp)
n.499A>G
c.436A>G (p.Asn146Asp)
c.1051A>G (p.Asn351Asp)
c.310A>G (p.Asn104Asp)
8g.11756991A>TCA370315328GATA4c.1054A>T (p.Asn352Tyr)
c.1057A>T (p.Asn353Tyr)
n.499A>T
c.436A>T (p.Asn146Tyr)
c.1051A>T (p.Asn351Tyr)
c.310A>T (p.Asn104Tyr)
8g.11756992A>CCA370315329GATA4c.1055A>C (p.Asn352Thr)
c.1058A>C (p.Asn353Thr)
n.500A>C
c.437A>C (p.Asn146Thr)
c.1052A>C (p.Asn351Thr)
c.311A>C (p.Asn104Thr)
8g.11756992A>GCA370315330GATA4c.1055A>G (p.Asn352Ser)
c.1058A>G (p.Asn353Ser)
n.500A>G
c.437A>G (p.Asn146Ser)
c.1052A>G (p.Asn351Ser)
c.311A>G (p.Asn104Ser)
8g.11756992A>TCA370315331GATA4c.1055A>T (p.Asn352Ile)
c.1058A>T (p.Asn353Ile)
n.500A>T
c.437A>T (p.Asn146Ile)
c.1052A>T (p.Asn351Ile)
c.311A>T (p.Asn104Ile)
8g.11756993C>ACA370315333GATA4c.1056C>A (p.Asn352Lys)
c.1059C>A (p.Asn353Lys)
n.501C>A
c.438C>A (p.Asn146Lys)
c.1053C>A (p.Asn351Lys)
c.312C>A (p.Asn104Lys)
 dbSNP gnomAD v2
8g.11756993C=CA1764072411GATA4c.1056C= (p.Asn352=)
c.1059C= (p.Asn353=)
n.501C=
c.438C= (p.Asn146=)
c.1053C= (p.Asn351=)
c.312C= (p.Asn104=)
8g.11756993C>GCA370315332GATA4c.1056C>G (p.Asn352Lys)
c.1059C>G (p.Asn353Lys)
n.501C>G
c.438C>G (p.Asn146Lys)
c.1053C>G (p.Asn351Lys)
c.312C>G (p.Asn104Lys)
8g.11756993C>TCA133991GATA4c.1056C>T (p.Asn352=)
c.1059C>T (p.Asn353=)
n.501C>T
c.438C>T (p.Asn146=)
c.1053C>T (p.Asn351=)
c.312C>T (p.Asn104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756994G>ACA4630810GATA4c.1057G>A (p.Ala353Thr)
c.1060G>A (p.Ala354Thr)
n.502G>A
c.439G>A (p.Ala147Thr)
c.1054G>A (p.Ala352Thr)
c.313G>A (p.Ala105Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11756994G>CCA370315334GATA4c.1057G>C (p.Ala353Pro)
c.1060G>C (p.Ala354Pro)
n.502G>C
c.439G>C (p.Ala147Pro)
c.1054G>C (p.Ala352Pro)
c.313G>C (p.Ala105Pro)
 gnomAD v4
8g.11756994G=CA1764072417GATA4c.1057G= (p.Ala353=)
c.1060G= (p.Ala354=)
n.502G=
c.439G= (p.Ala147=)
c.1054G= (p.Ala352=)
c.313G= (p.Ala105=)
8g.11756994G>TCA370315335GATA4c.1057G>T (p.Ala353Ser)
c.1060G>T (p.Ala354Ser)
n.502G>T
c.439G>T (p.Ala147Ser)
c.1054G>T (p.Ala352Ser)
c.313G>T (p.Ala105Ser)
8g.11756995C>ACA370315336GATA4c.1058C>A (p.Ala353Asp)
c.1061C>A (p.Ala354Asp)
n.503C>A
c.440C>A (p.Ala147Asp)
c.1055C>A (p.Ala352Asp)
c.314C>A (p.Ala105Asp)
8g.11756995C>GCA370315337GATA4c.1058C>G (p.Ala353Gly)
c.1061C>G (p.Ala354Gly)
n.503C>G
c.440C>G (p.Ala147Gly)
c.1055C>G (p.Ala352Gly)
c.314C>G (p.Ala105Gly)
8g.11756995C>TCA370315338GATA4c.1058C>T (p.Ala353Val)
c.1061C>T (p.Ala354Val)
n.503C>T
c.440C>T (p.Ala147Val)
c.1055C>T (p.Ala352Val)
c.314C>T (p.Ala105Val)
8g.11756996C>ACA459313689GATA4c.1059C>A (p.Ala353=)
c.1062C>A (p.Ala354=)
n.504C>A
c.441C>A (p.Ala147=)
c.1056C>A (p.Ala352=)
c.315C>A (p.Ala105=)
8g.11756996C>GCA459313688GATA4c.1059C>G (p.Ala353=)
c.1062C>G (p.Ala354=)
n.504C>G
c.441C>G (p.Ala147=)
c.1056C>G (p.Ala352=)
c.315C>G (p.Ala105=)
8g.11756996C>TCA459313687GATA4c.1059C>T (p.Ala353=)
c.1062C>T (p.Ala354=)
n.504C>T
c.441C>T (p.Ala147=)
c.1056C>T (p.Ala352=)
c.315C>T (p.Ala105=)
 gnomAD v4
8g.11756997A=CA1764072423GATA4c.1060A= (p.Thr354=)
c.1063A= (p.Thr355=)
n.505A=
c.442A= (p.Thr148=)
c.1057A= (p.Thr353=)
c.316A= (p.Thr106=)
8g.11756997A>CCA370315339GATA4c.1060A>C (p.Thr354Pro)
c.1063A>C (p.Thr355Pro)
n.505A>C
c.442A>C (p.Thr148Pro)
c.1057A>C (p.Thr353Pro)
c.316A>C (p.Thr106Pro)
 gnomAD v4
8g.11756997A>GCA370315340GATA4c.1060A>G (p.Thr354Ala)
c.1063A>G (p.Thr355Ala)
n.505A>G
c.442A>G (p.Thr148Ala)
c.1057A>G (p.Thr353Ala)
c.316A>G (p.Thr106Ala)
 dbSNP
8g.11756997A>TCA370315341GATA4c.1060A>T (p.Thr354Ser)
c.1063A>T (p.Thr355Ser)
n.505A>T
c.442A>T (p.Thr148Ser)
c.1057A>T (p.Thr353Ser)
c.316A>T (p.Thr106Ser)
8g.11756998C>ACA4630811GATA4c.1061C>A (p.Thr354Asn)
c.1064C>A (p.Thr355Asn)
n.506C>A
c.443C>A (p.Thr148Asn)
c.1058C>A (p.Thr353Asn)
c.317C>A (p.Thr106Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11756998C=CA1764072425GATA4c.1061C= (p.Thr354=)
c.1064C= (p.Thr355=)
n.506C=
c.443C= (p.Thr148=)
c.1058C= (p.Thr353=)
c.317C= (p.Thr106=)
8g.11756998C>GCA370315342GATA4c.1061C>G (p.Thr354Ser)
c.1064C>G (p.Thr355Ser)
n.506C>G
c.443C>G (p.Thr148Ser)
c.1058C>G (p.Thr353Ser)
c.317C>G (p.Thr106Ser)
8g.11756998C>TCA370315343GATA4c.1061C>T (p.Thr354Ile)
c.1064C>T (p.Thr355Ile)
n.506C>T
c.443C>T (p.Thr148Ile)
c.1058C>T (p.Thr353Ile)
c.317C>T (p.Thr106Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.11756999C>ACA459313690GATA4c.1062C>A (p.Thr354=)
c.1065C>A (p.Thr355=)
n.507C>A
c.444C>A (p.Thr148=)
c.1059C>A (p.Thr353=)
c.318C>A (p.Thr106=)
8g.11756999C=CA1764072428GATA4c.1062C= (p.Thr354=)
c.1065C= (p.Thr355=)
n.507C=
c.444C= (p.Thr148=)
c.1059C= (p.Thr353=)
c.318C= (p.Thr106=)
8g.11756999C>GCA459313691GATA4c.1062C>G (p.Thr354=)
c.1065C>G (p.Thr355=)
n.507C>G
c.444C>G (p.Thr148=)
c.1059C>G (p.Thr353=)
c.318C>G (p.Thr106=)
8g.11756999C>TCA4630812GATA4c.1062C>T (p.Thr354=)
c.1065C>T (p.Thr355=)
n.507C>T
c.444C>T (p.Thr148=)
c.1059C>T (p.Thr353=)
c.318C>T (p.Thr106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11757000A=CA1764072430GATA4c.1063A= (p.Thr355=)
c.1066A= (p.Thr356=)
n.508A=
c.445A= (p.Thr149=)
c.1060A= (p.Thr354=)
c.319A= (p.Thr107=)
8g.11757000A>CCA370315346GATA4c.1063A>C (p.Thr355Pro)
c.1066A>C (p.Thr356Pro)
n.508A>C
c.445A>C (p.Thr149Pro)
c.1060A>C (p.Thr354Pro)
c.319A>C (p.Thr107Pro)
8g.11757000A>GCA370315344GATA4c.1063A>G (p.Thr355Ala)
c.1066A>G (p.Thr356Ala)
n.508A>G
c.445A>G (p.Thr149Ala)
c.1060A>G (p.Thr354Ala)
c.319A>G (p.Thr107Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.11757000A>TCA370315345GATA4c.1063A>T (p.Thr355Ser)
c.1066A>T (p.Thr356Ser)
n.508A>T
c.445A>T (p.Thr149Ser)
c.1060A>T (p.Thr354Ser)
c.319A>T (p.Thr107Ser)
8g.11757001C>ACA370315347GATA4c.1064C>A (p.Thr355Asn)
c.1067C>A (p.Thr356Asn)
n.509C>A
c.446C>A (p.Thr149Asn)
c.1061C>A (p.Thr354Asn)
c.320C>A (p.Thr107Asn)
8g.11757001C=CA1764072433GATA4c.1064C= (p.Thr355=)
c.1067C= (p.Thr356=)
n.509C=
c.446C= (p.Thr149=)
c.1061C= (p.Thr354=)
c.320C= (p.Thr107=)
8g.11757001C>GCA4630813GATA4c.1064C>G (p.Thr355Ser)
c.1067C>G (p.Thr356Ser)
n.509C>G
c.446C>G (p.Thr149Ser)
c.1061C>G (p.Thr354Ser)
c.320C>G (p.Thr107Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11757001C>TCA370315348GATA4c.1064C>T (p.Thr355Ile)
c.1067C>T (p.Thr356Ile)
n.509C>T
c.446C>T (p.Thr149Ile)
c.1061C>T (p.Thr354Ile)
c.320C>T (p.Thr107Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11757002C>ACA4630815GATA4c.1065C>A (p.Thr355=)
c.1068C>A (p.Thr356=)
n.510C>A
c.447C>A (p.Thr149=)
c.1062C>A (p.Thr354=)
c.321C>A (p.Thr107=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11757002C=CA1764072438GATA4c.1065C= (p.Thr355=)
c.1068C= (p.Thr356=)
n.510C=
c.447C= (p.Thr149=)
c.1062C= (p.Thr354=)
c.321C= (p.Thr107=)
8g.11757002C>GCA459313692GATA4c.1065C>G (p.Thr355=)
c.1068C>G (p.Thr356=)
n.510C>G
c.447C>G (p.Thr149=)
c.1062C>G (p.Thr354=)
c.321C>G (p.Thr107=)
8g.11757002C>TCA4630814GATA4c.1065C>T (p.Thr355=)
c.1068C>T (p.Thr356=)
n.510C>T
c.447C>T (p.Thr149=)
c.1062C>T (p.Thr354=)
c.321C>T (p.Thr107=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757003A=CA1764072443GATA4c.1066A= (p.Ser356=)
c.1069A= (p.Ser357=)
n.511A=
c.448A= (p.Ser150=)
c.1063A= (p.Ser355=)
c.322A= (p.Ser108=)
8g.11757003A>CCA370315349GATA4c.1066A>C (p.Ser356Arg)
c.1069A>C (p.Ser357Arg)
n.511A>C
c.448A>C (p.Ser150Arg)
c.1063A>C (p.Ser355Arg)
c.322A>C (p.Ser108Arg)
8g.11757003A>GCA370315350GATA4c.1066A>G (p.Ser356Gly)
c.1069A>G (p.Ser357Gly)
n.511A>G
c.448A>G (p.Ser150Gly)
c.1063A>G (p.Ser355Gly)
c.322A>G (p.Ser108Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11757003A>TCA370315351GATA4c.1066A>T (p.Ser356Cys)
c.1069A>T (p.Ser357Cys)
n.511A>T
c.448A>T (p.Ser150Cys)
c.1063A>T (p.Ser355Cys)
c.322A>T (p.Ser108Cys)
 ClinVar dbSNP
8g.11757004G>ACA370315352GATA4c.1067G>A (p.Ser356Asn)
c.1070G>A (p.Ser357Asn)
n.512G>A
c.449G>A (p.Ser150Asn)
c.1064G>A (p.Ser355Asn)
c.323G>A (p.Ser108Asn)
8g.11757004G>CCA370315353GATA4c.1067G>C (p.Ser356Thr)
c.1070G>C (p.Ser357Thr)
n.512G>C
c.449G>C (p.Ser150Thr)
c.1064G>C (p.Ser355Thr)
c.323G>C (p.Ser108Thr)
8g.11757004G=CA1764072444GATA4c.1067G= (p.Ser356=)
c.1070G= (p.Ser357=)
n.512G=
c.449G= (p.Ser150=)
c.1064G= (p.Ser355=)
c.323G= (p.Ser108=)
8g.11757004G>TCA172120394GATA4c.1067G>T (p.Ser356Ile)
c.1070G>T (p.Ser357Ile)
n.512G>T
c.449G>T (p.Ser150Ile)
c.1064G>T (p.Ser355Ile)
c.323G>T (p.Ser108Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11757005C>ACA172120398GATA4c.1068C>A (p.Ser356Arg)
c.1071C>A (p.Ser357Arg)
n.513C>A
c.450C>A (p.Ser150Arg)
c.1065C>A (p.Ser355Arg)
c.324C>A (p.Ser108Arg)
 dbSNP
8g.11757005C=CA1764072447GATA4c.1068C= (p.Ser356=)
c.1071C= (p.Ser357=)
n.513C=
c.450C= (p.Ser150=)
c.1065C= (p.Ser355=)
c.324C= (p.Ser108=)
8g.11757005C>GCA370315354GATA4c.1068C>G (p.Ser356Arg)
c.1071C>G (p.Ser357Arg)
n.513C>G
c.450C>G (p.Ser150Arg)
c.1065C>G (p.Ser355Arg)
c.324C>G (p.Ser108Arg)
 dbSNP gnomAD v4
8g.11757005C>TCA459313693GATA4c.1068C>T (p.Ser356=)
c.1071C>T (p.Ser357=)
n.513C>T
c.450C>T (p.Ser150=)
c.1065C>T (p.Ser355=)
c.324C>T (p.Ser108=)
 dbSNP
8g.11757006A>CCA370315356GATA4c.1069A>C (p.Ser357Arg)
c.1072A>C (p.Ser358Arg)
n.514A>C
c.451A>C (p.Ser151Arg)
c.1066A>C (p.Ser356Arg)
c.325A>C (p.Ser109Arg)
8g.11757006A>GCA370315357GATA4c.1069A>G (p.Ser357Gly)
c.1072A>G (p.Ser358Gly)
n.514A>G
c.451A>G (p.Ser151Gly)
c.1066A>G (p.Ser356Gly)
c.325A>G (p.Ser109Gly)
8g.11757006A>TCA370315355GATA4c.1069A>T (p.Ser357Cys)
c.1072A>T (p.Ser358Cys)
n.514A>T
c.451A>T (p.Ser151Cys)
c.1066A>T (p.Ser356Cys)
c.325A>T (p.Ser109Cys)
8g.11757007G>ACA370315359GATA4c.1070G>A (p.Ser357Asn)
c.1073G>A (p.Ser358Asn)
n.515G>A
c.452G>A (p.Ser151Asn)
c.1067G>A (p.Ser356Asn)
c.326G>A (p.Ser109Asn)
8g.11757007G>CCA370315358GATA4c.1070G>C (p.Ser357Thr)
c.1073G>C (p.Ser358Thr)
n.515G>C
c.452G>C (p.Ser151Thr)
c.1067G>C (p.Ser356Thr)
c.326G>C (p.Ser109Thr)
8g.11757007G=CA1764072450GATA4c.1070G= (p.Ser357=)
c.1073G= (p.Ser358=)
n.515G=
c.452G= (p.Ser151=)
c.1067G= (p.Ser356=)
c.326G= (p.Ser109=)
8g.11757007G>TCA370315360GATA4c.1070G>T (p.Ser357Ile)
c.1073G>T (p.Ser358Ile)
n.515G>T
c.452G>T (p.Ser151Ile)
c.1067G>T (p.Ser356Ile)
c.326G>T (p.Ser109Ile)
 dbSNP
8g.11757008C>ACA370315361GATA4c.1071C>A (p.Ser357Arg)
c.1074C>A (p.Ser358Arg)
n.516C>A
c.453C>A (p.Ser151Arg)
c.1068C>A (p.Ser356Arg)
c.327C>A (p.Ser109Arg)
8g.11757008C>GCA370315362GATA4c.1071C>G (p.Ser357Arg)
c.1074C>G (p.Ser358Arg)
n.516C>G
c.453C>G (p.Ser151Arg)
c.1068C>G (p.Ser356Arg)
c.327C>G (p.Ser109Arg)
 gnomAD v4
8g.11757008C>TCA459313694GATA4c.1071C>T (p.Ser357=)
c.1074C>T (p.Ser358=)
n.516C>T
c.453C>T (p.Ser151=)
c.1068C>T (p.Ser356=)
c.327C>T (p.Ser109=)
8g.11757009A=CA1764072452GATA4c.1072A= (p.Ser358=)
c.1075A= (p.Ser359=)
n.517A=
c.454A= (p.Ser152=)
c.1069A= (p.Ser357=)
c.328A= (p.Ser110=)
8g.11757009A>CCA370315363GATA4c.1072A>C (p.Ser358Arg)
c.1075A>C (p.Ser359Arg)
n.517A>C
c.454A>C (p.Ser152Arg)
c.1069A>C (p.Ser357Arg)
c.328A>C (p.Ser110Arg)
8g.11757009A>GCA172120401GATA4c.1072A>G (p.Ser358Gly)
c.1075A>G (p.Ser359Gly)
n.517A>G
c.454A>G (p.Ser152Gly)
c.1069A>G (p.Ser357Gly)
c.328A>G (p.Ser110Gly)
 dbSNP
8g.11757009A>TCA370315364GATA4c.1072A>T (p.Ser358Cys)
c.1075A>T (p.Ser359Cys)
n.517A>T
c.454A>T (p.Ser152Cys)
c.1069A>T (p.Ser357Cys)
c.328A>T (p.Ser110Cys)
8g.11757010G>ACA370315365GATA4c.1073G>A (p.Ser358Asn)
c.1076G>A (p.Ser359Asn)
n.518G>A
c.455G>A (p.Ser152Asn)
c.1070G>A (p.Ser357Asn)
c.329G>A (p.Ser110Asn)
8g.11757010G>CCA4630816GATA4c.1073G>C (p.Ser358Thr)
c.1076G>C (p.Ser359Thr)
n.518G>C
c.455G>C (p.Ser152Thr)
c.1070G>C (p.Ser357Thr)
c.329G>C (p.Ser110Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757010G=CA1764072454GATA4c.1073G= (p.Ser358=)
c.1076G= (p.Ser359=)
n.518G=
c.455G= (p.Ser152=)
c.1070G= (p.Ser357=)
c.329G= (p.Ser110=)
8g.11757010G>TCA370315366GATA4c.1073G>T (p.Ser358Ile)
c.1076G>T (p.Ser359Ile)
n.518G>T
c.455G>T (p.Ser152Ile)
c.1070G>T (p.Ser357Ile)
c.329G>T (p.Ser110Ile)
8g.11757011delCA2695208950GATA4c.1074del (p.Ser358ArgfsTer?)
c.1077del (p.Ser359ArgfsTer?)
n.519del
c.456del (p.Ser152ArgfsTer?)
c.1071del (p.Ser357ArgfsTer?)
c.330del (p.Ser110ArgfsTer?)
8g.11757011C>ACA370315367GATA4c.1074C>A (p.Ser358Arg)
c.1077C>A (p.Ser359Arg)
n.519C>A
c.456C>A (p.Ser152Arg)
c.1071C>A (p.Ser357Arg)
c.330C>A (p.Ser110Arg)
8g.11757011C=CA1764072459GATA4c.1074C= (p.Ser358=)
c.1077C= (p.Ser359=)
n.519C=
c.456C= (p.Ser152=)
c.1071C= (p.Ser357=)
c.330C= (p.Ser110=)
8g.11757011C>GCA370315368GATA4c.1074C>G (p.Ser358Arg)
c.1077C>G (p.Ser359Arg)
n.519C>G
c.456C>G (p.Ser152Arg)
c.1071C>G (p.Ser357Arg)
c.330C>G (p.Ser110Arg)
 ClinVar dbSNP
8g.11757011C>TCA4630817GATA4c.1074C>T (p.Ser358=)
c.1077C>T (p.Ser359=)
n.519C>T
c.456C>T (p.Ser152=)
c.1071C>T (p.Ser357=)
c.330C>T (p.Ser110=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757011_11757012delinsCGCA1764072461GATA4c.1074_1075delinsCG (p.Ser358=)
c.1077_1078delinsCG (p.Ser359=)
n.519_520delinsCG
c.456_457delinsCG (p.Ser152=)
c.1071_1072delinsCG (p.Ser357=)
c.330_331delinsCG (p.Ser110=)
8g.11757012delCA913184949GATA4c.1075del (p.Glu359ArgfsTer?)
c.1078del (p.Glu360ArgfsTer?)
n.520del
c.457del (p.Glu153ArgfsTer?)
c.1072del (p.Glu358ArgfsTer?)
c.331del (p.Glu111ArgfsTer?)
 ClinVar dbSNP
8g.11757012G>ACA212671GATA4c.1075G>A (p.Glu359Lys)
c.1078G>A (p.Glu360Lys)
n.520G>A
c.457G>A (p.Glu153Lys)
c.1072G>A (p.Glu358Lys)
c.331G>A (p.Glu111Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757012G>CCA370315369GATA4c.1075G>C (p.Glu359Gln)
c.1078G>C (p.Glu360Gln)
n.520G>C
c.457G>C (p.Glu153Gln)
c.1072G>C (p.Glu358Gln)
c.331G>C (p.Glu111Gln)
8g.11757012G=CA1764072470GATA4c.1075G= (p.Glu359=)
c.1078G= (p.Glu360=)
n.520G=
c.457G= (p.Glu153=)
c.1072G= (p.Glu358=)
c.331G= (p.Glu111=)
8g.11757012G>TCA370315370GATA4c.1075G>T (p.Glu359Ter)
c.1078G>T (p.Glu360Ter)
n.520G>T
c.457G>T (p.Glu153Ter)
c.1072G>T (p.Glu358Ter)
c.331G>T (p.Glu111Ter)
 ClinVar dbSNP
8g.11757013A>CCA370315373GATA4c.1076A>C (p.Glu359Ala)
c.1079A>C (p.Glu360Ala)
n.521A>C
c.458A>C (p.Glu153Ala)
c.1073A>C (p.Glu358Ala)
c.332A>C (p.Glu111Ala)
8g.11757013A>GCA370315371GATA4c.1076A>G (p.Glu359Gly)
c.1079A>G (p.Glu360Gly)
n.521A>G
c.458A>G (p.Glu153Gly)
c.1073A>G (p.Glu358Gly)
c.332A>G (p.Glu111Gly)
8g.11757013A>TCA370315372GATA4c.1076A>T (p.Glu359Val)
c.1079A>T (p.Glu360Val)
n.521A>T
c.458A>T (p.Glu153Val)
c.1073A>T (p.Glu358Val)
c.332A>T (p.Glu111Val)
8g.11757013_11757014insCAAACAAACACCCAAACACACCCAACACACA2779061044GATA4c.1076_1077insCAAACAAACACCCAAACACACCCAACACA (p.Glu359AspfsTer?)
c.1079_1080insCAAACAAACACCCAAACACACCCAACACA (p.Glu360AspfsTer?)
n.521_522insCAAACAAACACCCAAACACACCCAACACA
c.458_459insCAAACAAACACCCAAACACACCCAACACA (p.Glu153AspfsTer?)
c.1073_1074insCAAACAAACACCCAAACACACCCAACACA (p.Glu358AspfsTer?)
c.332_333insCAAACAAACACCCAAACACACCCAACACA (p.Glu111AspfsTer?)
8g.11757014G>ACA459313695GATA4c.1077G>A (p.Glu359=)
c.1080G>A (p.Glu360=)
n.522G>A
c.459G>A (p.Glu153=)
c.1074G>A (p.Glu358=)
c.333G>A (p.Glu111=)
 dbSNP gnomAD v4
8g.11757014G>CCA370315374GATA4c.1077G>C (p.Glu359Asp)
c.1080G>C (p.Glu360Asp)
n.522G>C
c.459G>C (p.Glu153Asp)
c.1074G>C (p.Glu358Asp)
c.333G>C (p.Glu111Asp)
8g.11757014G=CA1764072477GATA4c.1077G= (p.Glu359=)
c.1080G= (p.Glu360=)
n.522G=
c.459G= (p.Glu153=)
c.1074G= (p.Glu358=)
c.333G= (p.Glu111=)
8g.11757014G>TCA370315375GATA4c.1077G>T (p.Glu359Asp)
c.1080G>T (p.Glu360Asp)
n.522G>T
c.459G>T (p.Glu153Asp)
c.1074G>T (p.Glu358Asp)
c.333G>T (p.Glu111Asp)
 dbSNP
8g.11757015G>ACA172120413GATA4c.1078G>A (p.Glu360Lys)
c.1081G>A (p.Glu361Lys)
n.523G>A
c.460G>A (p.Glu154Lys)
c.1075G>A (p.Glu359Lys)
c.334G>A (p.Glu112Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11757015G>CCA4630818GATA4c.1078G>C (p.Glu360Gln)
c.1081G>C (p.Glu361Gln)
n.523G>C
c.460G>C (p.Glu154Gln)
c.1075G>C (p.Glu359Gln)
c.334G>C (p.Glu112Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757015G=CA1764072482GATA4c.1078G= (p.Glu360=)
c.1081G= (p.Glu361=)
n.523G=
c.460G= (p.Glu154=)
c.1075G= (p.Glu359=)
c.334G= (p.Glu112=)
8g.11757015G>TCA370315376GATA4c.1078G>T (p.Glu360Ter)
c.1081G>T (p.Glu361Ter)
n.523G>T
c.460G>T (p.Glu154Ter)
c.1075G>T (p.Glu359Ter)
c.334G>T (p.Glu112Ter)
8g.11757016A=CA1764072486GATA4c.1079A= (p.Glu360=)
c.1082A= (p.Glu361=)
n.524A=
c.461A= (p.Glu154=)
c.1076A= (p.Glu359=)
c.335A= (p.Glu112=)
8g.11757016A>CCA370315377GATA4c.1079A>C (p.Glu360Ala)
c.1082A>C (p.Glu361Ala)
n.524A>C
c.461A>C (p.Glu154Ala)
c.1076A>C (p.Glu359Ala)
c.335A>C (p.Glu112Ala)
8g.11757016A>GCA4630819GATA4c.1079A>G (p.Glu360Gly)
c.1082A>G (p.Glu361Gly)
n.524A>G
c.461A>G (p.Glu154Gly)
c.1076A>G (p.Glu359Gly)
c.335A>G (p.Glu112Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11757016A>TCA370315378GATA4c.1079A>T (p.Glu360Val)
c.1082A>T (p.Glu361Val)
n.524A>T
c.461A>T (p.Glu154Val)
c.1076A>T (p.Glu359Val)
c.335A>T (p.Glu112Val)
8g.11757017G>ACA459313696GATA4c.1080G>A (p.Glu360=)
c.1083G>A (p.Glu361=)
n.525G>A
c.462G>A (p.Glu154=)
c.1077G>A (p.Glu359=)
c.336G>A (p.Glu112=)
8g.11757017G>CCA370315379GATA4c.1080G>C (p.Glu360Asp)
c.1083G>C (p.Glu361Asp)
n.525G>C
c.462G>C (p.Glu154Asp)
c.1077G>C (p.Glu359Asp)
c.336G>C (p.Glu112Asp)
8g.11757017G>TCA370315380GATA4c.1080G>T (p.Glu360Asp)
c.1083G>T (p.Glu361Asp)
n.525G>T
c.462G>T (p.Glu154Asp)
c.1077G>T (p.Glu359Asp)
c.336G>T (p.Glu112Asp)
8g.11757018A>CCA370315383GATA4c.1081A>C (p.Met361Leu)
c.1084A>C (p.Met362Leu)
n.526A>C
c.463A>C (p.Met155Leu)
c.1078A>C (p.Met360Leu)
c.337A>C (p.Met113Leu)
8g.11757018A>GCA370315382GATA4c.1081A>G (p.Met361Val)
c.1084A>G (p.Met362Val)
n.526A>G
c.463A>G (p.Met155Val)
c.1078A>G (p.Met360Val)
c.337A>G (p.Met113Val)
8g.11757018A>TCA370315381GATA4c.1081A>T (p.Met361Leu)
c.1084A>T (p.Met362Leu)
n.526A>T
c.463A>T (p.Met155Leu)
c.1078A>T (p.Met360Leu)
c.337A>T (p.Met113Leu)
8g.11757019T>ACA370315384GATA4c.1082T>A (p.Met361Lys)
c.1085T>A (p.Met362Lys)
n.527T>A
c.464T>A (p.Met155Lys)
c.1079T>A (p.Met360Lys)
c.338T>A (p.Met113Lys)
8g.11757019T>CCA370315385GATA4c.1082T>C (p.Met361Thr)
c.1085T>C (p.Met362Thr)
n.527T>C
c.464T>C (p.Met155Thr)
c.1079T>C (p.Met360Thr)
c.338T>C (p.Met113Thr)
8g.11757019T>GCA370315386GATA4c.1082T>G (p.Met361Arg)
c.1085T>G (p.Met362Arg)
n.527T>G
c.464T>G (p.Met155Arg)
c.1079T>G (p.Met360Arg)
c.338T>G (p.Met113Arg)
8g.11757020G>ACA370315387GATA4c.1083G>A (p.Met361Ile)
c.1086G>A (p.Met362Ile)
n.528G>A
c.465G>A (p.Met155Ile)
c.1080G>A (p.Met360Ile)
c.339G>A (p.Met113Ile)
8g.11757020G>CCA370315388GATA4c.1083G>C (p.Met361Ile)
c.1086G>C (p.Met362Ile)
n.528G>C
c.465G>C (p.Met155Ile)
c.1080G>C (p.Met360Ile)
c.339G>C (p.Met113Ile)
 gnomAD v4
8g.11757020G>TCA370315389GATA4c.1083G>T (p.Met361Ile)
c.1086G>T (p.Met362Ile)
n.528G>T
c.465G>T (p.Met155Ile)
c.1080G>T (p.Met360Ile)
c.339G>T (p.Met113Ile)
8g.11757021C>ACA370315390GATA4c.1084C>A (p.Arg362Ser)
c.1087C>A (p.Arg363Ser)
n.529C>A
c.466C>A (p.Arg156Ser)
c.1081C>A (p.Arg361Ser)
c.340C>A (p.Arg114Ser)
8g.11757021C=CA1764072488GATA4c.1084C= (p.Arg362=)
c.1087C= (p.Arg363=)
n.529C=
c.466C= (p.Arg156=)
c.1081C= (p.Arg361=)
c.340C= (p.Arg114=)
8g.11757021C>GCA370315391GATA4c.1084C>G (p.Arg362Gly)
c.1087C>G (p.Arg363Gly)
n.529C>G
c.466C>G (p.Arg156Gly)
c.1081C>G (p.Arg361Gly)
c.340C>G (p.Arg114Gly)
 dbSNP
8g.11757021C>TCA4630820GATA4c.1084C>T (p.Arg362Cys)
c.1087C>T (p.Arg363Cys)
n.529C>T
c.466C>T (p.Arg156Cys)
c.1081C>T (p.Arg361Cys)
c.340C>T (p.Arg114Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.11757022G>ACA4630821GATA4c.1085G>A (p.Arg362His)
c.1088G>A (p.Arg363His)
n.530G>A
c.467G>A (p.Arg156His)
c.1082G>A (p.Arg361His)
c.341G>A (p.Arg114His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757022G>CCA370315392GATA4c.1085G>C (p.Arg362Pro)
c.1088G>C (p.Arg363Pro)
n.530G>C
c.467G>C (p.Arg156Pro)
c.1082G>C (p.Arg361Pro)
c.341G>C (p.Arg114Pro)
8g.11757022G=CA1764072490GATA4c.1085G= (p.Arg362=)
c.1088G= (p.Arg363=)
n.530G=
c.467G= (p.Arg156=)
c.1082G= (p.Arg361=)
c.341G= (p.Arg114=)
8g.11757022G>TCA370315393GATA4c.1085G>T (p.Arg362Leu)
c.1088G>T (p.Arg363Leu)
n.530G>T
c.467G>T (p.Arg156Leu)
c.1082G>T (p.Arg361Leu)
c.341G>T (p.Arg114Leu)
8g.11757023T>ACA4630823GATA4c.1086T>A (p.Arg362=)
c.1089T>A (p.Arg363=)
n.531T>A
c.468T>A (p.Arg156=)
c.1083T>A (p.Arg361=)
c.342T>A (p.Arg114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757023T>CCA4630822GATA4c.1086T>C (p.Arg362=)
c.1089T>C (p.Arg363=)
n.531T>C
c.468T>C (p.Arg156=)
c.1083T>C (p.Arg361=)
c.342T>C (p.Arg114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757023T>GCA459313697GATA4c.1086T>G (p.Arg362=)
c.1089T>G (p.Arg363=)
n.531T>G
c.468T>G (p.Arg156=)
c.1083T>G (p.Arg361=)
c.342T>G (p.Arg114=)
8g.11757023T=CA1764072495GATA4c.1086T= (p.Arg362=)
c.1089T= (p.Arg363=)
n.531T=
c.468T= (p.Arg156=)
c.1083T= (p.Arg361=)
c.342T= (p.Arg114=)
8g.11757024C>ACA370315394GATA4c.1087C>A (p.Pro363Thr)
c.1090C>A (p.Pro364Thr)
n.532C>A
c.469C>A (p.Pro157Thr)
c.1084C>A (p.Pro362Thr)
c.343C>A (p.Pro115Thr)
8g.11757024C>GCA370315395GATA4c.1087C>G (p.Pro363Ala)
c.1090C>G (p.Pro364Ala)
n.532C>G
c.469C>G (p.Pro157Ala)
c.1084C>G (p.Pro362Ala)
c.343C>G (p.Pro115Ala)
8g.11757024C>TCA370315396GATA4c.1087C>T (p.Pro363Ser)
c.1090C>T (p.Pro364Ser)
n.532C>T
c.469C>T (p.Pro157Ser)
c.1084C>T (p.Pro362Ser)
c.343C>T (p.Pro115Ser)
 COSMIC
8g.11757025C>ACA370315397GATA4c.1088C>A (p.Pro363His)
c.1091C>A (p.Pro364His)
n.533C>A
c.470C>A (p.Pro157His)
c.1085C>A (p.Pro362His)
c.344C>A (p.Pro115His)
8g.11757025C=CA1764072500GATA4c.1088C= (p.Pro363=)
c.1091C= (p.Pro364=)
n.533C=
c.470C= (p.Pro157=)
c.1085C= (p.Pro362=)
c.344C= (p.Pro115=)
8g.11757025C>GCA370315398GATA4c.1088C>G (p.Pro363Arg)
c.1091C>G (p.Pro364Arg)
n.533C>G
c.470C>G (p.Pro157Arg)
c.1085C>G (p.Pro362Arg)
c.344C>G (p.Pro115Arg)
 ClinVar dbSNP
8g.11757025C>TCA370315399GATA4c.1088C>T (p.Pro363Leu)
c.1091C>T (p.Pro364Leu)
n.533C>T
c.470C>T (p.Pro157Leu)
c.1085C>T (p.Pro362Leu)
c.344C>T (p.Pro115Leu)
8g.11757026C>ACA459313700GATA4c.1089C>A (p.Pro363=)
c.1092C>A (p.Pro364=)
n.534C>A
c.471C>A (p.Pro157=)
c.1086C>A (p.Pro362=)
c.345C>A (p.Pro115=)
8g.11757026C>GCA459313698GATA4c.1089C>G (p.Pro363=)
c.1092C>G (p.Pro364=)
n.534C>G
c.471C>G (p.Pro157=)
c.1086C>G (p.Pro362=)
c.345C>G (p.Pro115=)
 gnomAD v4
8g.11757026C>TCA459313699GATA4c.1089C>T (p.Pro363=)
c.1092C>T (p.Pro364=)
n.534C>T
c.471C>T (p.Pro157=)
c.1086C>T (p.Pro362=)
c.345C>T (p.Pro115=)
 gnomAD v4
8g.11757027A>CCA370315400GATA4c.1090A>C (p.Ile364Leu)
c.1093A>C (p.Ile365Leu)
n.535A>C
c.472A>C (p.Ile158Leu)
c.1087A>C (p.Ile363Leu)
c.346A>C (p.Ile116Leu)
8g.11757027A>GCA370315401GATA4c.1090A>G (p.Ile364Val)
c.1093A>G (p.Ile365Val)
n.535A>G
c.472A>G (p.Ile158Val)
c.1087A>G (p.Ile363Val)
c.346A>G (p.Ile116Val)
8g.11757027A>TCA370315402GATA4c.1090A>T (p.Ile364Phe)
c.1093A>T (p.Ile365Phe)
n.535A>T
c.472A>T (p.Ile158Phe)
c.1087A>T (p.Ile363Phe)
c.346A>T (p.Ile116Phe)
8g.11757027dupCA2573320617GATA4c.1090dup (p.Ile364AsnfsTer?)
c.1093dup (p.Ile365AsnfsTer?)
n.535dup
c.472dup (p.Ile158AsnfsTer?)
c.1087dup (p.Ile363AsnfsTer?)
c.346dup (p.Ile116AsnfsTer?)
8g.11757028T>ACA370315403GATA4c.1091T>A (p.Ile364Asn)
c.1094T>A (p.Ile365Asn)
n.536T>A
c.473T>A (p.Ile158Asn)
c.1088T>A (p.Ile363Asn)
c.347T>A (p.Ile116Asn)
8g.11757028T>CCA370315404GATA4c.1091T>C (p.Ile364Thr)
c.1094T>C (p.Ile365Thr)
n.536T>C
c.473T>C (p.Ile158Thr)
c.1088T>C (p.Ile363Thr)
c.347T>C (p.Ile116Thr)
8g.11757028T>GCA370315405GATA4c.1091T>G (p.Ile364Ser)
c.1094T>G (p.Ile365Ser)
n.536T>G
c.473T>G (p.Ile158Ser)
c.1088T>G (p.Ile363Ser)
c.347T>G (p.Ile116Ser)
8g.11757029C>ACA459313701GATA4c.1092C>A (p.Ile364=)
c.1095C>A (p.Ile365=)
n.537C>A
c.474C>A (p.Ile158=)
c.1089C>A (p.Ile363=)
c.348C>A (p.Ile116=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11757029C=CA1764072502GATA4c.1092C= (p.Ile364=)
c.1095C= (p.Ile365=)
n.537C=
c.474C= (p.Ile158=)
c.1089C= (p.Ile363=)
c.348C= (p.Ile116=)
8g.11757029C>GCA370315406GATA4c.1092C>G (p.Ile364Met)
c.1095C>G (p.Ile365Met)
n.537C>G
c.474C>G (p.Ile158Met)
c.1089C>G (p.Ile363Met)
c.348C>G (p.Ile116Met)
 dbSNP gnomAD v4
8g.11757029C>TCA459313702GATA4c.1092C>T (p.Ile364=)
c.1095C>T (p.Ile365=)
n.537C>T
c.474C>T (p.Ile158=)
c.1089C>T (p.Ile363=)
c.348C>T (p.Ile116=)
8g.11757030A=CA1764072503GATA4c.1093A= (p.Lys365=)
c.1096A= (p.Lys366=)
n.538A=
c.475A= (p.Lys159=)
c.1090A= (p.Lys364=)
c.349A= (p.Lys117=)
8g.11757030A>CCA4630825GATA4c.1093A>C (p.Lys365Gln)
c.1096A>C (p.Lys366Gln)
n.538A>C
c.475A>C (p.Lys159Gln)
c.1090A>C (p.Lys364Gln)
c.349A>C (p.Lys117Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11757030A>GCA370315407GATA4c.1093A>G (p.Lys365Glu)
c.1096A>G (p.Lys366Glu)
n.538A>G
c.475A>G (p.Lys159Glu)
c.1090A>G (p.Lys364Glu)
c.349A>G (p.Lys117Glu)
8g.11757030A>TCA4630824GATA4c.1093A>T (p.Lys365Ter)
c.1096A>T (p.Lys366Ter)
n.538A>T
c.475A>T (p.Lys159Ter)
c.1090A>T (p.Lys364Ter)
c.349A>T (p.Lys117Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757031A>CCA370315410GATA4c.1094A>C (p.Lys365Thr)
c.1097A>C (p.Lys366Thr)
n.539A>C
c.476A>C (p.Lys159Thr)
c.1091A>C (p.Lys364Thr)
c.350A>C (p.Lys117Thr)
8g.11757031A>GCA370315408GATA4c.1094A>G (p.Lys365Arg)
c.1097A>G (p.Lys366Arg)
n.539A>G
c.476A>G (p.Lys159Arg)
c.1091A>G (p.Lys364Arg)
c.350A>G (p.Lys117Arg)
8g.11757031A>TCA370315409GATA4c.1094A>T (p.Lys365Met)
c.1097A>T (p.Lys366Met)
n.539A>T
c.476A>T (p.Lys159Met)
c.1091A>T (p.Lys364Met)
c.350A>T (p.Lys117Met)
8g.11757032G>ACA459313703GATA4c.1095G>A (p.Lys365=)
c.1098G>A (p.Lys366=)
n.540G>A
c.477G>A (p.Lys159=)
c.1092G>A (p.Lys364=)
c.351G>A (p.Lys117=)
8g.11757032G>CCA370315411GATA4c.1095G>C (p.Lys365Asn)
c.1098G>C (p.Lys366Asn)
n.540G>C
c.477G>C (p.Lys159Asn)
c.1092G>C (p.Lys364Asn)
c.351G>C (p.Lys117Asn)
8g.11757032G>TCA370315412GATA4c.1095G>T (p.Lys365Asn)
c.1098G>T (p.Lys366Asn)
n.540G>T
c.477G>T (p.Lys159Asn)
c.1092G>T (p.Lys364Asn)
c.351G>T (p.Lys117Asn)
8g.11757033A=CA1764072505GATA4c.1096A= (p.Thr366=)
c.1099A= (p.Thr367=)
n.541A=
c.478A= (p.Thr160=)
c.1093A= (p.Thr365=)
c.352A= (p.Thr118=)
8g.11757033A>CCA370315413GATA4c.1096A>C (p.Thr366Pro)
c.1099A>C (p.Thr367Pro)
n.541A>C
c.478A>C (p.Thr160Pro)
c.1093A>C (p.Thr365Pro)
c.352A>C (p.Thr118Pro)
8g.11757033A>GCA370315414GATA4c.1096A>G (p.Thr366Ala)
c.1099A>G (p.Thr367Ala)
n.541A>G
c.478A>G (p.Thr160Ala)
c.1093A>G (p.Thr365Ala)
c.352A>G (p.Thr118Ala)
 gnomAD v4
8g.11757033A>TCA4630826GATA4c.1096A>T (p.Thr366Ser)
c.1099A>T (p.Thr367Ser)
n.541A>T
c.478A>T (p.Thr160Ser)
c.1093A>T (p.Thr365Ser)
c.352A>T (p.Thr118Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757034C>ACA370315415GATA4c.1097C>A (p.Thr366Lys)
c.1100C>A (p.Thr367Lys)
n.542C>A
c.479C>A (p.Thr160Lys)
c.1094C>A (p.Thr365Lys)
c.353C>A (p.Thr118Lys)
 COSMIC
8g.11757034C=CA1764072508GATA4c.1097C= (p.Thr366=)
c.1100C= (p.Thr367=)
n.542C=
c.479C= (p.Thr160=)
c.1094C= (p.Thr365=)
c.353C= (p.Thr118=)
8g.11757034C>GCA370315416GATA4c.1097C>G (p.Thr366Arg)
c.1100C>G (p.Thr367Arg)
n.542C>G
c.479C>G (p.Thr160Arg)
c.1094C>G (p.Thr365Arg)
c.353C>G (p.Thr118Arg)
 ClinVar dbSNP gnomAD v4
8g.11757034C>TCA4630827GATA4c.1097C>T (p.Thr366Met)
c.1100C>T (p.Thr367Met)
n.542C>T
c.479C>T (p.Thr160Met)
c.1094C>T (p.Thr365Met)
c.353C>T (p.Thr118Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched